### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COL1A1)
# 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}}"
"COL1A1"	"collagen type I alpha 1 chain"	"17"	"q21.33"	"unknown"	"NG_007400.1"	"UD_129802545049"	""	"https://www.LOVD.nl/COL1A1"	"Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases <http://www.le.ac.uk/genetics/collagen/>\r\nOsteogenesis Imperfecta Federation Europe (OIFE) <https://oife.org>"	"1"	"2197"	"1277"	"120150"	"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.\r\nThis database is supported by <a href=\"https://oife.org/\" target=\"_blank\"><img src=\"gfx/LOVD_logo_OIFE.png\"> Osteogenesis Imperfecta Federation Europe (OIFE)</a><br>\r\nThis database is supported by <a href=\"https://www.ehlers-danlos.com/\" target=\"_blank\"><img src=\"gfx/LOVD_logo_EDS.png\"></a>\r\n<a href=\"https://www.ehlers-danlos.com/\" target=\"_blank\">The Ehlers-Danlos Society</a>"	""	"g"	"http://databases.lovd.nl/shared/refseq/COL1A1_codingDNA.html"	"1"	""	"<img src=\"gfx/LOVD_logo_IDdatabase.png\"><br><b>Osteogenesis Imperfecta Variant Database</b>\r\n<form action=\"\" id=\"SelectGeneDBOI\" method=\"get\" style=\"margin : 0px;\" onsubmit=\"document.location.href=(document.location.href.replace(\'COL1A1\', $(this).children(\'select\').val())); return false;\">\r\n<select name=\"select_db\" onchange=\"$(this).parent().submit();\">\r\n<option value=\"BMP1\" selected>BMP1 (bone morphogenetic protein 1)</option>\r\n<option value=\"CCDC134\">CCDC134 (coiled-coil domain containing 134)</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=\"CREB3L1\">CREB3L1 (cAMP responsive element binding protein 3 like 1)</option>\r\n<option value=\"CRTAP\">CRTAP (cartilage associated protein)</option>\r\n<option value=\"FAM46A\">FAM46A/TENT5A (family with sequence similarity 46 member A)</option>\r\n<option value=\"FKBP10\">FKBP10 (FKBP prolyl isomerase 10)</option>\r\n<option value=\"IFITM5\">IFITM5 (interferon induced transmembrane protein 5)</option>\r\n<option value=\"KDELR2\">KDELR2 (KDEL endoplasmic reticulum protein retention receptor 2)</option>\r\n<option value=\"LRP5\">LRP5 (LDL receptor related protein 5)</option>\r\n<option value=\"MBTPS2\">MBTPS2 (membrane bound transcription factor peptidase, site 2)</option>\r\n<option value=\"MESDC2\">MESDC2/MESD (mesoderm development candidate 2)</option>\r\n<option value=\"P3H1\">P3H1 (prolyl 3-hydroxylase 1)</option>\r\n<option value=\"P4HB\">P4HB (prolyl 4-hydroxylase subunit beta)</option>\r\n<option value=\"PLOD2\">PLOD2 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 2)</option>\r\n<option value=\"PLS3\">PLS3 (plastin 3)</option>\r\n<option value=\"PPIB\">PPIB (peptidylprolyl isomerase B)</option>\r\n<option value=\"SEC24D\">SEC24D (SEC24 homolog D, COPII coat complex component)</option>\r\n<option value=\"SERPINF1\">SERPINF1 (serpin family F member 1)</option>\r\n<option value=\"SERPINH1\">SERPINH1 (serpin family H member 1)</option>\r\n<option value=\"SP7\">SP7 (Sp7 transcription factor)</option>\r\n<option value=\"SPARC\">SPARC (secreted protein acidic and cysteine rich)</option>\r\n<option value=\"TMEM38B\">TMEM38B (transmembrane protein 38B)</option>\r\n<option value=\"WNT1\">WNT1 (Wnt family member 1)</option>\r\n</select><input type=\"submit\" value=\"Switch OI gene\">\r\n</form>\r\n<div style=\"text-align : left;\">\r\n<form action=\"\" id=\"SelectGeneCOL1A1\" method=\"get\" style=\"margin : 0px;\" \r\nonsubmit=\"document.location.href=(document.location.href.replace(\'COL1A1\', $(this).children(\'select\').val())); return false;\">\r\n<select name=\"select_db\" onchange=\"$(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\" selected> 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\"> COL5A1 (collagen type V alpha 1 chain)</option>\r\n<option value=\"COL5A2\"> COL5A2 (collagen type V alpha 2 chain)</option>\r\n<option value=\"DSE\">DSE (dermatan sulfate epimerase)</option>\r\n<option value=\"FKBP14\">FKBP14 (FKBP prolyl isomerase 14)</option>\r\n<option value=\"PLOD1\"> PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1)</option>\r\n<option value=\"PRDM5\"> PRDM5 (PR domain containing 5)</option>\r\n<option value=\"SLC39A13\"> SLC39A13 (solute carrier family 39 (zinc transporter), member 13)</option>\r\n<option value=\"TNXB\"> TNXB (tenascin XB)</option>\r\n<option value=\"ZNF469\"> ZNF469 (zinc finger protein 469)</option>\r\n</select>\r\n<input type=\"submit\" value=\"Switch EDS Gene\">\r\n</form>\r\n<br></div>"	"-1"	""	"-1"	"00001"	"2008-02-19 00:00:00"	"00085"	"2024-02-13 14:14:58"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00005455"	"COL1A1"	"collagen, type I, alpha 1"	"001"	"NM_000088.3"	""	"NP_000079.2"	""	""	""	"-126"	"5801"	"4395"	"48279000"	"48261457"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 22
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"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"
"00635"	"OI4"	"osteogenesis imperfecta, type IV (OI4)"	"AD"	"166220"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-16 21:54:24"
"00636"	"OI3"	"osteogenesis imperfecta, type III (OI3)"	"AD"	"259420"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-16 21:55:28"
"00637"	"OI2"	"osteogenesis imperfecta, type II (OI2)"	"AD"	"166210"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-16 21:56:03"
"00949"	"craniosynost."	"craniosynostosis, nonspecific"	"AR"	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01219"	"CAFYD"	"Caffey disease (CAFYD)"	"AD"	"114000"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01480"	"SSOAOD"	"short stature and advanced bone age, with/without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)"	"AD"	"165800"	""	""	"autosomal dominant"	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01481"	"OI1"	"osteogenesis imperfecta, type I (OI1)"	"AD"	"166200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-16 21:56:46"
"01482"	"GDD"	"dysplasia, gnathodiaphyseal (GDD)"	"AD"	"166260"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01484"	"-"	"osteoporosis"	"AD"	"166710"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02992"	"OI8"	"osteogenesis imperfecta type VIII (OI8)"	"AR"	"610915"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-16 21:52:18"
"03752"	"OI13"	"osteogenesis imperfecta, type XIII (OI13)"	"AR"	"614856"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-12 13:22:32"
"04267"	"-"	"glaucoma"	""	""	""	""	""	"00006"	"2015-05-14 15:50:28"	""	""
"05118"	"-"	"aneurysms, arterial"	""	""	""	""	""	"00006"	"2016-01-13 01:22:29"	""	""
"05296"	"OI"	"osteogenesis imperfecta"	""	""	""	""	""	"00006"	"2017-06-26 22:59:16"	"00006"	"2025-09-23 21:54:31"
"05369"	"SMD"	"dysplasia, spondylometaphyseal (SMD)"	""	""	""	""	""	"00006"	"2017-12-29 15:48:06"	""	""
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""
"05734"	"BRKS"	"Bruck syndrome (BRKS)"	""	""	""	""	""	"00006"	"2020-04-30 17:10:30"	"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"
"05879"	"EDSARTH1;EDS7A"	"hlers-Danlos syndrome, arthrochalasia, type 1"	"AD"	"130060"	""	""	""	"03701"	"2020-11-16 15:50:09"	"00006"	"2025-06-05 20:08:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 9
"{{geneid}}"	"{{diseaseid}}"
"COL1A1"	"00169"
"COL1A1"	"00635"
"COL1A1"	"00636"
"COL1A1"	"00637"
"COL1A1"	"01219"
"COL1A1"	"01481"
"COL1A1"	"01484"
"COL1A1"	"05296"
"COL1A1"	"05879"


## Individuals ## Do not remove or alter this header ##
## Count = 2966
"{{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}}"
"00050699"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected mother/child"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00079996"	""	""	""	"1"	""	"01745"	""	""	"M"	"no"	"Azerbaijan"	""	"0"	""	""	"white"	""
"00105902"	""	""	""	"2"	""	"02120"	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	"3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II"	"M"	"no"	"Germany"	""	"0"	""	""	"German"	"27380894-FamIIAPat1/II"
"00132059"	""	""	""	"1"	""	"01396"	""	""	"F"	"no"	"Brazil"	""	"0"	""	""	""	"1"
"00154400"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"(Iraq)"	""	"0"	""	""	"jesidic"	"127978"
"00173905"	""	""	""	"1"	""	"01873"	""	""	""	""	"Argentina"	""	"0"	"Marsá Silvana (smarsa @ gmail.com)  FQByF UNSL"	""	""	"?"
"00231402"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231403"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231404"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231405"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231406"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231407"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231408"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231409"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231410"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00231411"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00234068"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004301"
"00234069"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004302"
"00234070"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004303"
"00234071"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004304"
"00234072"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004305"
"00234073"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004306"
"00234074"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004307"
"00234075"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004308"
"00234076"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004309"
"00234077"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004310"
"00234078"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004311"
"00234079"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004312"
"00234080"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004313"
"00234081"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004314"
"00234082"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004315"
"00234083"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004316"
"00234084"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004317"
"00234085"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004318"
"00234086"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004319"
"00234087"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004320"
"00234088"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004321"
"00234089"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004322"
"00234090"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004323"
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"00234127"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004373"
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"00234139"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004386"
"00234140"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004387"
"00234141"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004388"
"00234142"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004389"
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"00234145"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004393"
"00234146"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004394"
"00234147"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004395"
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"00234149"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004397"
"00234150"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004398"
"00234151"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004399"
"00234152"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004400"
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"00234154"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004402"
"00234155"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004404"
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"00234157"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004406"
"00234158"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004407"
"00234159"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004408"
"00234160"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004409"
"00234161"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004410"
"00234162"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004411"
"00234163"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004413"
"00234164"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004417"
"00234165"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004418"
"00234166"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004419"
"00234167"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004420"
"00234168"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004421"
"00234169"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004423"
"00234170"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004424"
"00234171"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004425"
"00234172"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004429"
"00234173"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004430"
"00234174"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004431"
"00234175"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004432"
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"00234214"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004475"
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"00234216"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004478"
"00234217"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004479"
"00234218"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004480"
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"00234224"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004487"
"00234225"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004488"
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"00234228"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004491"
"00234229"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004492"
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"00234232"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004496"
"00234233"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004497"
"00234234"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004499"
"00234235"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004500"
"00234236"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004502"
"00234237"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004503"
"00234238"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004504"
"00234239"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004505"
"00234240"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004506"
"00234241"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004507"
"00234242"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004508"
"00234243"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004509"
"00234244"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004510"
"00234245"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004511"
"00234246"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004512"
"00234247"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004513"
"00234248"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004514"
"00234249"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004515"
"00234250"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004517"
"00234251"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004519"
"00234252"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004522"
"00234253"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004523"
"00234254"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004524"
"00234255"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004525"
"00234256"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004526"
"00234257"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004547"
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"00234260"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004530"
"00234261"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004532"
"00234262"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004533"
"00234263"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004534"
"00234264"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004535"
"00234265"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004536"
"00234266"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004538"
"00234267"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004539"
"00234268"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004540"
"00234269"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004542"
"00234270"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004350"
"00234271"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004351"
"00234272"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004392"
"00234273"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004416"
"00234274"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004426"
"00234275"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004427"
"00234276"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004428"
"00234277"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Pepin et al 1997"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004445"
"00234278"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004454"
"00234279"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004461"
"00234280"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004501"
"00234281"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"COL1A1_00 442"
"00234282"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004521"
"00234283"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004527"
"00234284"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Schwarze et al 1999"	""	""	""	"United States"	""	"0"	""	""	""	"COL1A1_00216"
"00234285"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004334"
"00234286"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004342"
"00234287"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004352"
"00234288"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004354"
"00234289"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004355"
"00234290"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004422"
"00234291"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004460"
"00234292"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Pepin et al. 1997"	""	""	""	"United States"	""	"0"	""	""	""	"95-837"
"00234293"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004537"
"00234294"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004541"
"00234295"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004330"
"00234296"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004336"
"00234297"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004337"
"00234298"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004338"
"00234299"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Pepin et al 1997, Marini et al 2007"	""	""	""	"United States"	""	"0"	""	""	""	"93-378"
"00234300"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004340"
"00234301"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004341"
"00234302"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004343"
"00234303"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"United States"	""	"0"	""	""	""	"AN_004349"
"00234304"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004353"
"00234305"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004356"
"00234306"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	"family history"	""	""	"United States"	""	"0"	""	""	""	"COL1A1_00 394"
"00234307"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004357"
"00234308"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004414"
"00234309"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004415"
"00234310"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004446"
"00234311"	""	""	""	"1"	""	"00004"	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	"no family history"	""	""	"United States"	""	"0"	""	""	""	"AN_004520"
"00260782"	""	""	""	"13"	""	"01864"	""	""	"M"	"no"	"China"	">08y"	"0"	"yes"	"alendronate"	"chinese"	"III-11"
"00260851"	""	""	"00260782"	"1"	""	"01864"	""	""	"F"	"no"	"China"	""	"0"	"yes"	""	"chinese"	"III-9"
"00261189"	""	""	"00260782"	"1"	""	"01864"	""	""	"F"	"no"	"China"	""	"0"	"yes"	""	"chinese"	"lsz"
"00261190"	""	""	"00260782"	"1"	""	"01864"	""	""	"F"	"no"	"China"	""	"0"	"yes"	""	"chinese"	"I-2"
"00261191"	""	""	"00260782"	"1"	""	"01864"	""	""	"M"	"no"	"China"	""	"0"	"yes"	""	"chinese"	"II-1"
"00261192"	""	""	"00260782"	"1"	""	"01864"	""	""	"M"	"no"	"China"	""	"0"	"yes"	""	"chinese"	"II-5"
"00261193"	""	""	"00260782"	"1"	""	"01864"	""	""	"M"	"no"	"China"	""	"0"	"yes"	""	"chinese"	"III-1"
"00265730"	""	""	""	"1"	""	"02544"	""	""	"M"	"?"	"Italy"	"23y"	"0"	""	""	""	"Family4-P8"
"00265731"	""	""	""	"1"	""	"02544"	""	""	"M"	""	"Italy"	"56y"	"0"	""	""	""	"Family5-P9"
"00265734"	""	""	""	"2"	""	"02544"	""	"family, 2 affected"	"M"	""	""	"40y"	"0"	""	""	""	"Family7-P12"
"00265735"	""	""	"00265734"	"1"	""	"02544"	""	""	"F"	""	"Italy"	"06y"	"0"	""	""	""	"Family7-P13"
"00265736"	""	""	""	"1"	""	"02544"	""	""	"F"	""	"Italy"	"23y"	"0"	""	""	""	"Family8-P14"
"00265737"	""	""	""	"1"	""	"02544"	""	""	"M"	""	"Italy"	""	"0"	""	""	""	"Family9-P15ita"
"00269935"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00291780"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291782"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291783"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291784"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295738"	""	""	""	"1"	""	"03528"	""	""	""	""	"Portugal"	""	"0"	""	""	""	""
"00296385"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00299748"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299749"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299750"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299751"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299752"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299753"	""	""	""	"3"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299754"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299755"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299756"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299757"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299758"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299759"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299760"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299761"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299762"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	""	""
"00299763"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299764"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299765"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299766"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299767"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299768"	""	""	""	"3"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299769"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299770"	""	""	""	"3"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299771"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299772"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299774"	""	""	""	"5"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299775"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299776"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299777"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299778"	""	""	""	"3"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299779"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299780"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299781"	""	""	""	"2"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00299782"	""	""	""	"4"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299930"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299931"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299932"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299933"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299934"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299935"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299936"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299937"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299940"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299941"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299942"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299943"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299944"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299945"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299946"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299947"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299948"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299949"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299950"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299951"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299952"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299953"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299954"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299955"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299956"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299957"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299958"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299959"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00299960"	""	""	""	"1"	""	"03235"	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00300347"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam1"
"00300348"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam2"
"00300349"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam3"
"00300350"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam4"
"00300351"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam5"
"00300352"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam6"
"00300353"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam7"
"00300354"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam8"
"00300355"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam9"
"00300356"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam10"
"00300357"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam11"
"00300358"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam12"
"00300359"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam13"
"00300360"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam14"
"00300361"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam15"
"00300362"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam16"
"00300363"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	""	""	"China"	""	"0"	""	""	""	"Fam17"
"00300385"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam39"
"00300386"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam40"
"00300387"	""	""	""	"2"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families, family, 2 affected"	"M"	""	"China"	""	"0"	""	""	""	"Fam41Pat1"
"00300388"	""	""	"00300387"	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"Pat2"	"F"	""	"China"	""	"0"	""	""	""	"Fam41Pat2"
"00300389"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam42"
"00300390"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam43"
"00300391"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam44"
"00300392"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam45"
"00300393"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"F"	""	"China"	""	"0"	""	""	""	"Fam46"
"00300394"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam47"
"00300395"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"F"	""	"China"	""	"0"	""	""	""	"Fam48"
"00300396"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam49"
"00300397"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam50"
"00300398"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam51"
"00300399"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"F"	""	"China"	""	"0"	""	""	""	"Fam52"
"00300400"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam53"
"00300401"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam54"
"00300402"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam55"
"00300403"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"M"	""	"China"	""	"0"	""	""	""	"Fam56"
"00300404"	""	""	""	"1"	""	"00006"	"{PMID:Liu 2017:28725987}"	"analysis 101 unrelated OI families"	"F"	""	"China"	""	"0"	""	""	""	"Fam57"
"00320461"	""	""	""	"1"	""	"00085"	"{PMID:Bardai et al., 2016:26478226}"	"The deletion in this patient spans 47 genes including COL1A1.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320462"	""	""	""	"1"	""	"03870"	""	"The patient harbours a deletion of exons 1 to 6. The 5´ break-point lies somewhere 5´ to the start of transcription. The 3´ break-point lies somewhere within intron 6 between the +33 and -42 positions."	""	""	""	""	"0"	""	""	""	""
"00320463"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320464"	""	""	""	"1"	""	"03854"	"{PMID:van Dijk et al., 2010:21113976}"	"This is patient I.1 in family 4 in {PMID21113976:van Dijk et al., 2010}"	""	""	""	""	"0"	""	""	""	""
"00320465"	""	""	""	"1"	""	"03854"	"{PMID:van Dijk et al., 2010:21113976}"	"This is patient I.2 in family 2 in {PMID21113976:van Dijk et al., 2010}"	""	""	""	""	"0"	""	""	""	""
"00320466"	""	""	""	"1"	""	"03854"	""	"Amsterdam patient ID: VU3"	""	""	""	""	"0"	""	""	""	""
"00320467"	""	""	""	"1"	""	"03854"	"{PMID:van Dijk et al., 2010:21113976}"	"This is patient I.2 in family 3 in {PMID21113976:van Dijk et al., 2010}"	""	""	""	""	"0"	""	""	""	""
"00320468"	""	""	""	"1"	""	"03854"	"{PMID:van Dijk et al., 2010:21113976}"	"This patient II.1 in family 1 in {PMID21113976:van Dijk et al., 2010}"	""	""	""	""	"0"	""	""	""	""
"00320469"	""	""	""	"1"	""	"00085"	"{PMID:Mannstadt et al., 2014:25075839}"	"The patient has a 1.035 Mb deletion encompassing at least 28 genes including COL1A1."	""	""	""	""	"0"	""	""	""	""
"00320470"	""	""	""	"1"	""	"00085"	"{PMID:Liu et al., 2017:28725987}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320471"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	"This patient also had micrognathia and cleft palate (Robin sequence), marfanoid features, blue sclerae and had a fracture at birth with osteopaenia on X-rays.The deletion was demonstrated by FISH analysis, but the identities of the non-hybridising probes are not given."	""	""	""	""	"0"	""	""	""	""
"00320472"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320473"	""	""	""	"1"	""	"00085"	"{DECIPHER:255632}"	"The deletion in this patient spans 46 genes including COL1A1. The patient phenotype is described as Abnormality of the esophagus, Abnormality of the face and Intellectual disability."	""	""	""	""	"0"	""	""	""	""
"00320474"	""	""	""	"1"	""	"00085"	"{DECIPHER:267067}"	"The deletion in this patient spans 43 genes including COL1A1. The patient phenotype is described as Delayed speech and language development, Joint laxity,Kyphosis and Osteoporosis."	""	""	""	""	"0"	""	""	""	""
"00320475"	""	""	""	"1"	""	"00085"	"{PMID:Bardai et al., 2016:26478226}"	"The deletion in this patient spans 34 genes including COL1A1.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320476"	""	""	""	"1"	""	"00085"	"{PMID:Bardai et al., 2016:26478226}"	"The deletion in this patient spans 4 genes including COL1A1.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320477"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320478"	""	""	""	"1"	""	"00085"	"{PMID:Bardai et al., 2016:26478226}"	"The deletion in this patient spans 4 genes including COL1A1.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320479"	""	""	""	"1"	""	"00085"	"{PMID:Bardai et al., 2016:26478226}"	"The deletion in this patient spans just COL1A1.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320480"	""	""	""	"1"	""	"00085"	"{PMID:Harbuz et al., 2013:23949819}"	"The patient has an unbalanced translocation involving chromosomes 7 and 17 with a deletion of 17q21.33-q22 which spans the COL1A1 gene."	""	""	""	""	"0"	""	""	""	""
"00320481"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA32"
"00320482"	""	""	""	"1"	""	"03856"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320483"	""	""	""	"1"	""	"03856"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320484"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00320485"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320486"	""	""	""	"1"	""	"00085"	"{PMID:Cho et al., 2015:25696019}"	"The protein-level consequence of the sequence variant is incorrectly reported as p.Met1Arg."	""	""	""	""	"0"	""	""	"Korean"	""
"00320487"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	""	""
"00320488"	""	""	""	"1"	""	"03885"	"{PMID: Bardai et al., 2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00320489"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00320490"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320491"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	"433"
"00320492"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	"AN_000079"
"00320493"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320494"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320495"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"This patient is reported to harbour two COL1A1 variants, either of which would be expected to result alone in producing the OI phenotype. The c.77G>A variant is previously reported as causing OI I and the frequent c.2461G>A variant causes predominantly OI types III and IV. The possible parental origin of these variants is not reported and the matter of the patient having two disease-causing variants is not discussed by the authors.Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00320496"	""	""	""	"1"	""	"03856"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320497"	""	""	""	"1"	""	"00085"	"{PMID:Balasubramanian et al., 2016:26863094}"	""	""	""	""	""	"0"	""	""	"Canadian"	""
"00320498"	""	""	""	"1"	""	"03891"	""	""	""	""	""	""	"0"	""	""	""	""
"00320499"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320500"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320501"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00320502"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00320503"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320504"	""	""	""	"1"	""	"00085"	"{PMID:Jaleč et al., 2019:30720562}"	"The patient\'s sequence variant is not reported in the published account but was supplied to the database by the authors.The c.2235+1G>A splice site variant is the primary cause of the OI phenotype. The c.104-441G>T variant lies in within the binding site of the transcription factor SP1 and can be considered as a functional SNP that results in reduced BMD.The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	""	""
"00320505"	""	""	""	"1"	""	"00085"	"{PMID:Zarate et al., 2016:27090748}"	"The variant, incorrectly reported as c.104-13_-12CC>AA, is predicted to create a new 3´ splice site resulting in a shifted reading frame. The authors describe the variant as a VUS."	""	""	""	""	"0"	""	""	""	""
"00320506"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320507"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320508"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320509"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2014:25449076}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320510"	""	""	""	"1"	""	"03854"	""	""	""	""	""	""	"0"	""	""	""	""
"00320511"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320512"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320513"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320514"	""	""	""	"1"	""	"00085"	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	""	""	"0"	""	""	"Czech"	""
"00320516"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320518"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320519"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320520"	""	""	""	"1"	""	"02091"	""	""	""	""	""	""	"0"	""	""	"Turkish"	""
"00320521"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320522"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320523"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1993:7691343} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00320524"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320525"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320526"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320527"	""	""	""	"1"	""	"00085"	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	""	""	"0"	""	""	"Czech"	""
"00320528"	""	""	""	"1"	""	"03882"	""	""	""	""	""	""	"0"	""	""	""	""
"00320529"	""	""	""	"1"	""	"00085"	""	"The variant in this patient would be consistent with OI type I.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"white"	""
"00320530"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005807"
"00320534"	""	""	""	"1"	""	"00085"	"{PMID:Kaneto et al., 2014:24767406}"	""	""	""	""	""	"0"	""	""	""	""
"00320535"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320536"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320537"	""	""	""	"1"	""	"00085"	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	""	""	"0"	""	""	"Polish"	""
"00320538"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	"This mutation is incorrectly described as c.243delC in Hartikka et al., 2004."	""	""	""	""	"0"	""	""	""	""
"00320539"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320540"	""	""	""	"1"	""	"00085"	"{PMID:Mrosk et al., 2018:29499418}"	"The patient was heterozygous, while the mutation was absent in the patient\'s parents."	""	""	""	""	"0"	""	""	"Indian"	""
"00320541"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320542"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320543"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320545"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	"The deletion spans from exon 2 to intron 2 and probably results in loss of exon 2, resulting in a frameshift."	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320546"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320547"	""	""	""	"1"	""	"00085"	"{PMID:Yang et al., 2018:29344653}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320548"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320549"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320550"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320551"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320552"	""	""	""	"1"	""	"03855"	""	"No family studies done."	""	""	""	""	"0"	""	""	""	""
"00320553"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320554"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE19"
"00320555"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320556"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320557"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320558"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320559"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320560"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	"This mutation was also found in an additional family member (patient 50)."	""	""	""	""	"0"	""	""	""	""
"00320561"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320562"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320563"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320564"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320565"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	"The variant in this patient is incorrectly reported as c.333-9A>G."	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320566"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320567"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA08"
"00320568"	""	""	""	"1"	""	"03885"	"{PMID: Bardai et al., 2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320569"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320570"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320571"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320572"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320573"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320574"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA85"
"00320575"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00320576"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320577"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320578"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320579"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320580"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	"This mutation was incorrectly described in terms of the HGVS nomenclature in Pollitt et al., 2006."	""	""	""	""	"0"	""	""	""	""
"00320581"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320582"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320583"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320584"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	"The variant in this patient is incorrectly described as c.386_387insC."	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320585"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320586"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320587"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320588"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320589"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320590"	""	""	""	"1"	""	"00085"	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	""	""	"0"	""	""	"Czech"	""
"00320591"	""	""	""	"1"	""	"00085"	"{PMID:Árvai et al., 2016:27335225}"	"The patient\'s father (Patient 2), and paternal grandmother also have OI which is consistent with autosomal dominant inheritance. That and the PTC variant suggest possible type I OI.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"white"	""
"00320592"	""	""	""	"1"	""	"00085"	"{PMID:Nicholls et al., 2000:11073542}"	"The deletion begins in exon 5 and ends in intron 6, resulting in the loss of exons 5 and 6."	""	""	""	""	"0"	""	""	""	""
"00320593"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320594"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320595"	""	""	""	"1"	""	"00085"	"{PMID:Ellison, 2010:21488280}"	"The variant is described as affecting codon-38 but that\'s not consistent with the deletion description. A specific type of OI is not mentioned, but the frameshift resulting from the deletion most probably results in OI I."	""	""	""	""	"0"	""	""	""	""
"00320596"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00320597"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00320598"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320599"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320600"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320602"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00320603"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00320604"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320605"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320606"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320607"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320609"	""	""	""	"1"	""	"03885"	"{PMID: Bardai et al., 2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00320610"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320611"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320612"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320613"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320614"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00320615"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA15"
"00320616"	""	""	""	"1"	""	"00085"	"{PMID:Mauri et al., 2016:27484908}"	"The patient is described as having primary congenital glaucoma/infantile glaucoma and as not having OI."	""	""	""	""	"0"	""	""	"German"	""
"00320617"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00320618"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320619"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320620"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00320621"	""	""	""	"1"	""	"00085"	"{PMID:Ni et al., 2017:28901398}"	"Another person in the pedigree (IV-11), who harbours the same COL1A1 variant, has a much more severe phenotype.The technique used was whole genome sequencing."	""	""	""	""	"0"	""	""	"Chinese"	""
"00320622"	""	""	""	"1"	""	"03885"	"{PMID: Bardai et al., 2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320623"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320624"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	"The variant in this patient would be expected to interfere with the splicing of exon 6 and to lead to the phenotype of EDS VIIA, rather than OI I. The reason for this discrepancy is not clear."	""	""	""	""	"0"	""	""	""	""
"00320625"	""	""	""	"1"	""	"00085"	"{PMID:Giunta et al., 2008:18409203}"	"The variant results in use of a cryptic splice site resulting in loss of the first 15 bases of exon 6 in the mature transcript. This results in the loss of 5 amino acids from the protein including the N-proteinase cleavage site."	""	""	""	""	"0"	""	""	""	""
"00320626"	""	""	""	"1"	""	"03704"	"{PMID:Byers et al., 1997:9295084}"	""	""	""	""	""	"0"	""	""	""	""
"00320627"	""	""	""	"1"	""	"00085"	"{PMID:Nicholls et al., 2000:11073542}"	"This mutation causes skipping of exon 6 as the minor product and use of an AG within exon 6 (bp 14 & 15) as the major product. The latter causes deletion of the first 5 amino acids of exon 6, abolishing the pro-peptide cleavage site."	""	""	""	""	"0"	""	""	""	""
"00320628"	""	""	""	"1"	""	"03854"	""	""	""	""	""	""	"0"	""	""	""	""
"00320629"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	"The variant is incorrectly described as c.477_478insT."	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320630"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320632"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA22"
"00320633"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE18"
"00320634"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320635"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320636"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320637"	""	""	""	"1"	""	"00085"	"{PMID:Taillandier et al., 2015:26432670}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320638"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320639"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320640"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320641"	""	""	""	"1"	""	"00085"	"{PMID:Wallace et al., 2014:25324685}"	"The subject\'s younger sister also harbours the same sequence variant. Both also have primary open angle glaucoma.The variant is incorrectly described as c.540_541insC."	""	""	""	""	"0"	""	""	""	""
"00320642"	""	""	""	"1"	""	"00085"	"{PMID:Weil et al., 1989:2767050}"	"The exonic mutation results predominantly in the skipping of exon 6 but a small amount of correctly spliced mRNA is produced coding for the Ile substitution."	""	""	""	""	"0"	""	""	""	""
"00320643"	""	""	""	"1"	""	"00085"	"{PMID:D\'Alessio et al., 1991:1867198}"	"The exonic mutation results predominantly in the skipping of exon 6 but a small amount of correctly spliced mRNA is produced coding for the Ile substitution. The ratio of mis-spliced to correctly spliced mRNA is temperature dependant."	""	""	""	""	"0"	""	""	""	""
"00320644"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320645"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320646"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320647"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00320648"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320650"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2013:23692737}"	""	""	""	""	""	"0"	""	""	""	""
"00320651"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320652"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	""	""	"0"	""	""	""	""
"00320653"	""	""	""	"1"	""	"00085"	"{PMID:Mayer et al., 1996:8757037}"	"The only manifestations of OI in the patient were bluish sclerae and easy bruisability."	""	""	""	""	"0"	""	""	""	""
"00320654"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320656"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320657"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00320658"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320659"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The patient\'s frameshift is incorrectly described in the paper but the corrected details have been confirmed with the authors, as has the specific OI type."	""	""	""	""	"0"	""	""	""	""
"00320660"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320661"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320662"	""	""	""	"1"	""	"03862"	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	""	""	"0"	""	""	"Tatar"	""
"00320663"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320664"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320665"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00320666"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320667"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320668"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320669"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320670"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320671"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320672"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320673"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320674"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320675"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	"The protein-level consequence of the variant is incorrectly reported as p. Pro193Profs*72."	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320676"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320677"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320678"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320679"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00320680"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320681"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA14"
"00320682"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320683"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00320684"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Spanish"	""
"00320685"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00320686"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320687"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	"The original published variant description is incomplete; the description presented here has been confirmed with the authors."	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320688"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	""	""	"0"	""	""	""	""
"00320689"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320690"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320691"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00320693"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320694"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320695"	""	""	""	"1"	""	"00085"	"Nicholls et al., 1990 {Localnicholls_et_al_1990.pdf:View abstract}"	""	""	""	""	""	"0"	""	""	""	""
"00320696"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1998:9594376}"	""	""	""	""	""	"0"	""	""	""	""
"00320697"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320698"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320699"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320700"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320701"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320702"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320703"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320704"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320705"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320707"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320708"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00320709"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320710"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320711"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00320712"	""	""	""	"1"	""	"00085"	"{PMID:Witecka et al., 2008:18670065}"	"The proband\'s father (patient 29) also harbours the same mutation."	""	""	""	""	"0"	""	""	""	""
"00320713"	""	""	""	"1"	""	"00085"	"{PMID:Balasubramanian et al., 2015:25436829}"	"The authors have confirmed that the patient\'s phenotype is OI type IV, rather than OI I/IV.The patient was subsequently presented again as Patient 1 by {PMID26863094:Balasubramanian et al., 2016}."	""	""	""	""	"0"	""	""	""	""
"00320714"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320715"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00320716"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320717"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320718"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320719"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2013:23692737}"	""	""	""	""	""	"0"	""	""	""	""
"00320720"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320721"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022}"	""	""	""	""	""	"0"	""	""	""	""
"00320722"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320723"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320724"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2005:15728585}"	"In figure 2b of Cabral et al. the mutation is mistakenly described as a substitution to aspartic acid."	""	""	""	""	"0"	""	""	""	""
"00320725"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2005:15728585}"	"In figure 2b of Cabral et al. the mutation is mistakenly described as a substitution to aspartic acid."	""	""	""	""	"0"	""	""	""	""
"00320726"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320727"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00320728"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320729"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320730"	""	""	""	"1"	""	"03888"	"{PMID:Gardner et al., 2018:29644031}"	""	""	""	""	""	"0"	""	""	""	""
"00320731"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320732"	""	""	""	"1"	""	"00085"	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	""	""	"0"	""	""	"Indian"	""
"00320733"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	""	""	"0"	""	""	"Brazilian"	""
"00320734"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00320735"	""	""	""	"1"	""	"00085"	"{PMID:Spotila et al., 1994:8079666}"	""	""	""	""	""	"0"	""	""	""	""
"00320736"	""	""	""	"1"	""	"00085"	"{PMID:Spotila et al., 1994:8079666}"	""	""	""	""	""	"0"	""	""	""	""
"00320737"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	"The patient harbours the g.36436A>G splice site mutation in COL1A2 and the c.613C>G (p.Pro205Ala) missense mutation in COL1A1."	""	""	""	""	"0"	""	""	""	""
"00320738"	""	""	""	"1"	""	"00085"	""	"The patient and variant were presented as a poster (3124/F/Poster Board #1056) at the ASHG 2009 conference. The patient is described as having variant osteogenesis imperfecta and juvenile osteoporosis."	""	""	""	""	"0"	""	""	""	""
"00320739"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320740"	""	""	""	"1"	""	"03855"	""	"Family studies showed this change to be present in affected and unaffected individuals."	""	""	""	""	"0"	""	""	""	""
"00320741"	""	""	""	"1"	""	"00085"	"{PMID:Shaheen et al., 2010:20696291}"	"The FKBP10 variant in this patient is incorrectly described by Shaheen et al. as c.1023insGGAGAATT and p.Tyr342Glyfs*367. The patient is also homozygous for the COL1A1 variant c.613C>G, though any contribution of this variant to the phenotype is not clear.This patient\'s family has the ID OI_F10 ({PMID23054245:Shaheen et al., 2012})."	""	""	""	""	"0"	""	""	"Saudi Arabian"	""
"00320742"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320743"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320744"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320745"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"This variant (c.613C>G) assessed not to cause patient\'s OI type I. Not known if this variant influences phenotype."	""	""	""	""	"0"	""	""	"Swedish"	""
"00320746"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00320747"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320748"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	"This mutation is incorrectly reported as c.610delC."	""	""	""	""	"0"	""	""	""	""
"00320749"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320750"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320751"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	""	""	"0"	""	""	""	""
"00320752"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320753"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	"The reported variant in this patient is not consistent with a phenotype of OI III. In addition, the reported protein alteration of p.Glu210Aspfs*3 is incorrect."	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00320754"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	""	""	"0"	""	""	""	""
"00320755"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320756"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320757"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han"	""
"00320758"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320759"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320760"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320761"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320762"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320763"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1994:7945197}"	"A cryptic splice site in intron 7 is activated resulting in 96 bp of intron 7 being retained in the mRNA from the mutant allele. This results in a 32 amino acid non-collagenous insertion."	""	""	""	""	"0"	""	""	""	""
"00320764"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00320765"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320766"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	""	""	"0"	""	""	""	""
"00320767"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320768"	""	""	""	"1"	""	"00085"	"Wu et al., (2007) Medical Bulletin of Shanghai Jiaotong University, 19 (1) 8-11"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320770"	""	""	""	"1"	""	"03702"	"{PMID:Vandersteen et al., 2013:24311407}"	"This is Patient 3 in {PMID24311407:Vandersteen et al., 2013}."	""	""	""	""	"0"	""	""	"white"	""
"00320771"	""	""	""	"1"	""	"00085"	"{PMID:Vandersteen et al., 2013:24311407}"	"This patient was subsequently reported as Patient ID 36 in {PMID27011056:Weerakkody et al., 2016}."	""	""	""	""	"0"	""	""	"white"	""
"00320772"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00320773"	""	""	""	"1"	""	"03853"	""	"This patient is described as Individual T1 by {PMID25086671:Rauch et al., 2014}."	""	""	""	""	"0"	""	""	"white"	""
"00320774"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320775"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA89"
"00320776"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00320777"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	"This patient was subsequently presented as Patient 3 by {PMID24296239:Fratzl-Zelman et al.,2014}."	""	""	""	""	"0"	""	""	""	""
"00320778"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	""	""	"0"	""	""	""	""
"00320779"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320780"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00320781"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320782"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320783"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00320784"	""	""	""	"1"	""	"00085"	"{PMID:Zhang 2015:26377240}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"Chinese"	""
"00320785"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320786"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320787"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320789"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA19"
"00320790"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320791"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320792"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320793"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320794"	""	""	""	"1"	""	"00085"	"{PMID:Shapiro et al., 1992:1737847}"	""	""	""	""	""	"0"	""	""	""	""
"00320795"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022}"	""	""	""	""	""	"0"	""	""	""	""
"00320796"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320797"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320798"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320799"	""	""	""	"1"	""	"00085"	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	""	""	"0"	""	""	""	""
"00320800"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320801"	""	""	""	"1"	""	"03704"	"{PMID:Byers et al., 1991:1895312}"	""	""	""	""	""	"0"	""	""	""	""
"00320802"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00320803"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320804"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00320805"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320807"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	"The predicted disease phenotype for this patient would normally be OI I, rather than OI IV. The reported phenotype has been confirmed by the submitter."	""	""	""	""	"0"	""	""	""	""
"00320808"	""	""	""	"1"	""	"03878"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320809"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320810"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320811"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	"Possible null allele."	""	""	""	""	"0"	""	""	""	""
"00320812"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320813"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320814"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320815"	""	""	""	"1"	""	"00085"	"{PMID:Zhai et al., 2019:31218168}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320816"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320817"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00320818"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320819"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The patient\'s deletion is incorrectly described in the paper but the corrected details have been confirmed with the authors, as has the specific OI type."	""	""	""	""	"0"	""	""	""	""
"00320820"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320821"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"Skips exon 10."	""	""	""	""	"0"	""	""	""	""
"00320822"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320823"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00320824"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25983617}"	"The reported protein-level variant description is incorrect."	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00320825"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"white"	""
"00320826"	""	""	""	"1"	""	"03853"	"{PMID:Marini et al., 2007:17078022}"	""	""	""	""	""	"0"	""	""	""	""
"00320827"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00320828"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320829"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA53"
"00320830"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320831"	""	""	""	"1"	""	"01819"	"{PMID:Marini et al., 2007:17078022}"	""	""	""	""	""	"0"	""	""	""	""
"00320832"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA33"
"00320833"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320834"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320835"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00320836"	""	""	""	"1"	""	"00085"	"{PMID:Árvai et al., 2016:27335225}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"white"	""
"00320837"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320838"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320839"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320840"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00320841"	""	""	""	"1"	""	"00085"	"{PMID:Seto et al., 2017:28326186}"	"The proband is described as having OI type I but his symptoms, including short stature and scoliosis, suggest a more severe type.The technique used was whole genome sequencing."	""	""	""	""	"0"	""	""	"Japanese"	""
"00320842"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE04"
"00320843"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320844"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320845"	""	""	""	"1"	""	"03855"	""	"Exons 11 to 20 are deleted."	""	""	""	""	"0"	""	""	""	""
"00320846"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	""	""	"0"	""	""	""	""
"00320847"	""	""	""	"1"	""	"01819"	"{PMID:Marini et al., 2007:17078022}"	""	""	""	""	""	"0"	""	""	""	""
"00320848"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Kurdish"	""
"00320849"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00320850"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00320851"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320852"	""	""	""	"1"	""	"03856"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320853"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320854"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	""	""
"00320855"	""	""	""	"1"	""	"00085"	"{PMID:Mauri et al., 2016:27484908}"	"The patient also presented with juvenile open angle glaucoma and cataracts.The patient was previously described by {PMID22130728:Rosbach et al., 2012}."	""	""	""	""	"0"	""	""	"German"	""
"00320856"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320857"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320858"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320859"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320861"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA57"
"00320862"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Mottes, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320863"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2001:11286507}"	"The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00320864"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	""	""	"0"	""	""	""	""
"00320865"	""	""	""	"1"	""	"03872"	"{PMID:Wang et al., 2015:26307460}"	"This is Patient 2 in {PMID26307460:Wang et al., 2015}."	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320866"	""	""	""	"1"	""	"00085"	"{PMID:Gat-Yablonski et al., 1997:9385363}"	""	""	""	""	""	"0"	""	""	""	""
"00320867"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	"OI-3"
"00320868"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	"OI-23"
"00320869"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	"OI-36"
"00320870"	""	""	""	"1"	""	"00085"	"{PMID:Redford-Badwal et al., 1996:8613526}"	""	""	""	""	""	"0"	""	""	""	""
"00320871"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00320872"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00320873"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00320874"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320875"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320876"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320877"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320878"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320879"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320880"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320881"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320882"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320883"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320884"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320885"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320886"	""	""	""	"1"	""	"00475"	""	"de novo mutation"	""	""	""	""	"0"	""	""	"white"	""
"00320887"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320888"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320889"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00320890"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320891"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320892"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320893"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320894"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00320895"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2014:24486247}"	"The OI phenotype is described as severe."	""	""	""	""	"0"	""	""	""	""
"00320896"	""	""	""	"1"	""	"00085"	"{PMID:Zhang 2015:26377240}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"Chinese"	""
"00320897"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320898"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320899"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320900"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320901"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320902"	""	""	""	"1"	""	"00085"	"{PMID:Uehara et al., 2017:28626166}"	""	""	""	""	""	"0"	""	""	"Japanese"	""
"00320903"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320904"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320905"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320906"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320907"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA23"
"00320908"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320909"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00320910"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320911"	""	""	""	"1"	""	"00085"	"{PMID:Deak et al., 1991:1718984}"	""	""	""	""	""	"0"	""	""	""	""
"00320912"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320913"	""	""	""	"1"	""	"00085"	"{PMID:Valli et al., 1993:8223589}"	""	""	""	""	""	"0"	""	""	""	""
"00320914"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320915"	""	""	""	"1"	""	"00085"	"{PMID:Mauri et al., 2016:27484908}"	"The patient is described as having primary congenital glaucoma and retinal detachment.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Italian"	""
"00320916"	""	""	""	"1"	""	"00085"	"{PMID:Zarate et al., 2016:27090748}"	""	""	""	""	""	"0"	""	""	""	""
"00320917"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	""	""	"0"	""	""	""	""
"00320918"	""	""	""	"1"	""	"00085"	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	""	""	"0"	""	""	""	""
"00320919"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification."	""	""	""	""	"0"	""	""	""	""
"00320920"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320921"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320922"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320923"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA80"
"00320924"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"The deletion is described as resulting in defective splicing.Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00320925"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00320926"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320927"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320928"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320929"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320930"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320931"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00320932"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00320933"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320934"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320935"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320936"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320937"	""	""	""	"1"	""	"03704"	"{PMID:Starman et al., 1989:2794057}"	"The technique used was Edman degradation for amino acid sequencing."	""	""	""	""	"0"	""	""	""	""
"00320938"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320939"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320940"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320941"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320942"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320943"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320944"	""	""	""	"1"	""	"00085"	"{PMID:Lightfoot et al., 1992:1460046}"	""	""	""	""	""	"0"	""	""	""	""
"00320945"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320946"	""	""	""	"1"	""	"03880"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00320947"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320948"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320949"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320950"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320951"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320952"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320953"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320954"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00320955"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00320956"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320957"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320958"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA43"
"00320959"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA56"
"00320960"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320961"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320962"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	"The variant in this pateint is not known to affect splicing."	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320963"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00320964"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00320965"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320966"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320967"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320968"	""	""	""	"1"	""	"00085"	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	""	""	"0"	""	""	""	""
"00320969"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320970"	""	""	""	"1"	""	"00085"	"{PMID:Adur et al., 2013:23869235}"	"The patient is described as having moderate OI."	""	""	""	""	"0"	""	""	""	""
"00320971"	""	""	""	"1"	""	"00085"	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	""	""	"0"	""	""	""	""
"00320972"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	"The p.Asp1219Glu mutation lies at the C-propeptide cleavage site. The patient also harbours a c.862G>A (p.Glu288Lys) variant (allele unknown) that is probably not pathogenic. The complete genotype is c.[3657T>G(+)c.862G>A] and the protein changes are p.[Asp1219Glu(+)Glu288Lys]."	""	""	""	""	"0"	""	""	""	""
"00320973"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00320974"	""	""	""	"1"	""	"00085"	"{PMID:Kaneto et al., 2014:24767406}"	"The variant in this patient is incorrectly reported by the authors in Figure 1 and in Table 1."	""	""	""	""	"0"	""	""	""	""
"00320975"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00320976"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320977"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	""	""	"0"	""	""	"Brazilian"	""
"00320978"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00320979"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320980"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320981"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00320983"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00320985"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320986"	""	""	""	"1"	""	"00085"	"{PMID:Schafer et al., 2004:15046069}"	"The substitution creates a new splice acceptor site that is used in preference to the normal site. The inclusion of 8 bases of intron in the mRNA results in a frameshift and NMD."	""	""	""	""	"0"	""	""	""	""
"00320987"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320988"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00320989"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE14"
"00320990"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA25"
"00320992"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320993"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00320994"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00320995"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00320996"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00320997"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	"This mutation was incorrectly listed as c.913G>A in table 1 of Hartikka et al., 2004."	""	""	""	""	"0"	""	""	""	""
"00320998"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00320999"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321000"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321001"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321002"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321003"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321004"	""	""	""	"1"	""	"00085"	"{PMID:Nuytinck et al., 2000:10739762}"	"First diagnosed at age 5 years.\r\n\r\nThis individual was published subsequently as patient F1 II-1 by {PMID:Colman et al., 2022:35587586}."	"F"	""	""	""	"0"	""	""	""	"Patient 1"
"00321005"	""	""	""	"1"	""	"00085"	"{PMID:Nuytinck et al., 2000:10739762}"	"First diagnosed at age 7 years.\r\n\r\nThis individual was subsequently published as patient F2 II-4 by {PMID:Colman et al., 2022:35587586}."	"M"	""	""	""	"0"	""	""	""	"Patient 2"
"00321006"	""	""	""	"1"	""	"00085"	"{PMID:Malfait et al., 2007:17211858}"	""	""	""	""	""	"0"	""	""	""	""
"00321007"	""	""	""	"1"	""	"03702"	""	""	""	""	""	""	"0"	""	""	""	""
"00321008"	""	""	""	"1"	""	"00085"	"{PMID:Gaines et al., 2015:25597651}"	"The patient had a ruptured right iliac artery dissection."	""	""	""	""	"0"	""	""	"Hispanic"	""
"00321009"	""	""	""	"1"	""	"03883"	"{PMID:Colombi et al., 2017:28102596}"	"Daughter of affected individual AN_005701, sister of affected individuals AN_005703, AN_005704, mother of affected individual AN_005705, aunt of affected individual AN_005706This family was reported subsequently by {PMID30261568:Cortini et al., 2018}, but that paper was later retracted {PMID30677842:Cortini et al., 2018}."	""	""	""	""	"0"	""	""	"Italian"	""
"00321010"	""	""	""	"1"	""	"03883"	"{PMID:Ritelli et al., 2013:23587214}"	"This patient was already published by {PMID23587214:Ritelli et al., 2013} as cEDSv-l1. Brother of affected individuals AN_005708, AN_005709, uncle of AN_005710, AN_005711, AN_005712"	""	""	""	""	"0"	""	""	"Italian"	""
"00321011"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321012"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321013"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321014"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321015"	""	""	""	"1"	""	"03704"	"{PMID:Cohn et al., 1993:8097422}"	"In genomic DNA coordinates, the mutation in this patient, which results from an unequal crossover, is g.10328_11056dup"	""	""	""	""	"0"	""	""	""	""
"00321016"	""	""	""	"1"	""	"00085"	"{PMID:Bonadio et al., 1990:2298750}"	"Skips exon 14."	""	""	""	""	"0"	""	""	""	""
"00321017"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	"Skips exon 14."	""	""	""	""	"0"	""	""	""	""
"00321018"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"Skips exon 15 (minor)."	""	""	""	""	"0"	""	""	""	""
"00321019"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321020"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00321021"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321022"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321023"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321024"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	""	""
"00321025"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321026"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321027"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321028"	""	""	""	"1"	""	"03862"	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	""	""	"0"	""	""	"Russian"	""
"00321029"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321030"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321031"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321032"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321035"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321036"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321037"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Patient\'s mother and grandmother more severely affected by OI."	""	""	""	""	"0"	""	""	"Swedish"	""
"00321038"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321039"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321040"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321041"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"Hispanic"	""
"00321042"	""	""	""	"1"	""	"03704"	"{PMID:Pruchno et al., 1991:2037280}"	""	""	""	""	""	"0"	""	""	""	""
"00321043"	""	""	""	"1"	""	"03704"	"{PMID:Pruchno et al., 1991:2037280}"	""	""	""	""	""	"0"	""	""	""	""
"00321044"	""	""	""	"1"	""	"00085"	"{PMID:Zhuang et al., 1996:8669434}"	""	""	""	""	""	"0"	""	""	""	""
"00321045"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321046"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321047"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321048"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321049"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321050"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321051"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321052"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321053"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321054"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321055"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321056"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321057"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321058"	""	""	""	"1"	""	"00085"	"Krakow et al. 1996 {Localkrakow_et_al_1996.pdf:View abstract}"	""	""	""	""	""	"0"	""	""	""	""
"00321059"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321060"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321061"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	"The mutation in this patient is incorrectly described in Ries-Levavi et al., 2004."	""	""	""	""	"0"	""	""	""	""
"00321062"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Variant c.1002+2T>C not found in patient\'s healthy mother or father."	""	""	""	""	"0"	""	""	"Swedish"	""
"00321063"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321064"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00321065"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321066"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	"The deletion may remove the splicing branch site."	""	""	""	""	"0"	""	""	""	""
"00321067"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321068"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321069"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321070"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321071"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321072"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321073"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321074"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321075"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	""	""	"0"	""	""	""	""
"00321076"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321077"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321078"	""	""	""	"1"	""	"03856"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321079"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321080"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321081"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321082"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321083"	""	""	""	"1"	""	"00085"	"{PMID:Witecka et al., 2008:18670065}"	"The proband\'s father (patient 25P) also harbours the same mutation."	""	""	""	""	"0"	""	""	""	""
"00321084"	""	""	""	"1"	""	"00085"	"{PMID:Ziganshin et al., 2015:26188975}"	"The proband had aneurysm of the aortic rootand ascending aorta.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00321085"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1994:8019571}"	""	""	""	""	""	"0"	""	""	""	""
"00321086"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321087"	""	""	""	"1"	""	"00085"	"{PMID:Yamada et al., 2012:22987783}"	"The phenotype of OI type II is not consistent with the data presented in the paper. If the five-base deletion results in retention of the rest of intron 16, an in-frame stop codon (taa) ought to result in nonsense mediated decay (NMD) of the mRNA and a mild OI phenotype."	""	""	""	""	"0"	""	""	"Japanese"	""
"00321088"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00321089"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321090"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	""	""	"0"	""	""	""	""
"00321091"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321093"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	""	""	"0"	""	""	"Brazilian"	""
"00321094"	""	""	""	"1"	""	"00085"	"{PMID:Tamborlane et al., 2004:15502558}"	""	""	""	""	""	"0"	""	""	""	""
"00321095"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321096"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1993:8456806}"	"Skips exon 17 (minor)."	""	""	""	""	"0"	""	""	""	""
"00321097"	""	""	""	"1"	""	"00085"	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	""	""	"0"	""	""	"Czech"	""
"00321098"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321099"	""	""	""	"1"	""	"00085"	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	""	""	"0"	""	""	""	""
"00321100"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321101"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321102"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321103"	""	""	""	"1"	""	"00085"	"{PMID:Wirtz et al., 1993:8339541}"	"The technique used was Edman degradation for amino acid sequencing."	""	""	""	""	"0"	""	""	""	""
"00321104"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321105"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA62"
"00321106"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321107"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2012:22795108}"	""	""	""	""	""	"0"	""	""	""	""
"00321108"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321109"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321110"	""	""	""	"1"	""	"00085"	"{PMID:Valli et al., 1991:1988452}"	"The patient is described as having a moderate form of OI and is classified by the authors as having OI I. However, this patient is listed in Marini et al., 2007 as having OI IV."	""	""	""	""	"0"	""	""	""	""
"00321111"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321112"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321113"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	"The reported single-base deletion in this patient is not consistent with a phenotype of OI III. In addition, the protein alteration is incorrectly reported as p.(Glu358Lysfs*26)."	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321114"	""	""	""	"1"	""	"00085"	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	""	""	"0"	""	""	""	""
"00321115"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321116"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321117"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00321118"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	"This patient was subsequently presented as Patient 10 by {PMID24296239:Fratzl-Zelman et al.,2014}."	""	""	""	""	"0"	""	""	""	""
"00321119"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321120"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321121"	""	""	""	"1"	""	"03862"	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	""	""	"0"	""	""	"Mari"	""
"00321122"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321123"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321124"	""	""	""	"1"	""	"00085"	"{PMID: van Dijk et al, 2011:22570641}"	""	""	""	""	""	"0"	""	""	"Iranian"	""
"00321125"	""	""	""	"1"	""	"00085"	"{PMID:Zhytnik et al., 2017:28810924}"	"This patient harboured a de novo mutation."	""	""	""	""	"0"	""	""	"Estonian"	""
"00321127"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA45"
"00321128"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321130"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321131"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321132"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321133"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321134"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321135"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321136"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321137"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321138"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321139"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321140"	""	""	""	"1"	""	"03866"	"{PMID:Stephen et al., 2014:24668929}"	"Patient 9 in {PMID24668929:Stephen et al., 2014}. de novo mutation"	""	""	""	""	"0"	""	""	""	""
"00321141"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321142"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321143"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321144"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321145"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321146"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321147"	""	""	""	"1"	""	"00085"	"{PMID:Brizola et al., 2015:26604951}"	"The patient exhibits bulbous epiphyses and popcorn calcification. The COL1A2 variant is of unknown significance."	""	""	""	""	"0"	""	""	"Asian ethnicity"	""
"00321148"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321149"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	"do novo mutationThe DNA-level variant description is incorrect in {PMID24668929:Stephen et al., 2014}."	""	""	""	""	"0"	""	""	""	""
"00321151"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00321152"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"Hispanic"	""
"00321153"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00321154"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321155"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321156"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321157"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321158"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321159"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321160"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	""	""	"0"	""	""	""	""
"00321161"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00321162"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321163"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321164"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321165"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321166"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321167"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321168"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321169"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321170"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE10"
"00321172"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321173"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321174"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321175"	""	""	""	"1"	""	"03866"	"{PMID:Stephen et al., 2014:24668929}"	"This is patient 17 in the study by {PMID24668929:Stephen et al., 2014}."	""	""	""	""	"0"	""	""	""	""
"00321176"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321177"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321178"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321181"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321182"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Mottes, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321183"	""	""	""	"1"	""	"03704"	"{PMID:Byers, 1990:2238087}"	""	""	""	""	""	"0"	""	""	""	""
"00321184"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321185"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321186"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	""	""
"00321187"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321188"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321189"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321190"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321191"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Egyptian"	""
"00321192"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321193"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321194"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321196"	""	""	""	"1"	""	"03704"	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	""	""	"0"	""	""	""	""
"00321197"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321198"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	"Skips exon 17."	""	""	""	""	"0"	""	""	""	""
"00321199"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321200"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321201"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Egyptian"	""
"00321202"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE09"
"00321203"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321204"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321205"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	"Although the phenotype is mild in this patient, the mechanism is unlikely to be haploinsufficiency."	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321206"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321207"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321208"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321209"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321210"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321211"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321212"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321213"	""	""	""	"1"	""	"00085"	"{PMID:Sztrolovics et al., 1994:7520724}"	""	""	""	""	""	"0"	""	""	""	""
"00321214"	""	""	""	"1"	""	"00085"	"Wilcox et al., 1994 {Localwilcox_et_al_1994.pdf:View abstract}"	"The existence of this mutation, resulting in moderately severe OI,  is mentioned in Wilcox et al., 1994 but no other supporting evidence is presented."	""	""	""	""	"0"	""	""	""	""
"00321215"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321216"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321218"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321219"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321220"	""	""	""	"1"	""	"00085"	"{PMID:Chandler et al., 2018:29595812}"	"The variant is paternally inherited, but there are no signs of OI or a history of fracturing in the father.The technique used was the custom NGS Exome panel"	""	""	""	""	"0"	""	""	""	""
"00321221"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321222"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321223"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321224"	""	""	""	"1"	""	"00085"	"{PMID:Duan et al., 2018:29637746}"	"The pathogenic variant in this patient was previously incorrectly identified as c.[440_441insT;c.441_442insA] {PMID26694865:Duan et al., 2016}, and this was later disputed {PMID29633577:Dalgleish 2018}."	""	""	""	""	"0"	""	""	"Chinese"	""
"00321225"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA76"
"00321226"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321227"	""	""	""	"1"	""	"03704"	"{PMID:Culbert et al., 1995:7487936}"	""	""	""	""	""	"0"	""	""	""	""
"00321228"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321229"	""	""	""	"1"	""	"00085"	"{PMID:Sarafova et al., 1998:9600458}"	""	""	""	""	""	"0"	""	""	""	""
"00321230"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321231"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	"VN02"
"00321232"	""	""	""	"1"	""	"00635"	""	"The patient is female. Prenatal ultrasound showed shortening of the femur. Pathological fracture in the first days of life, blue sclerae, short and bowed femur. No further symptoms. Parents healthy. Last seen at age of 6 weeks; no further fractures."	""	""	""	""	"0"	""	""	"German/Poland"	""
"00321233"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321234"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005804"
"00321236"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321237"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321238"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321239"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321240"	""	""	""	"1"	""	"00085"	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	""	""	"0"	""	""	""	""
"00321241"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321242"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321243"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321244"	""	""	""	"1"	""	"03704"	"{PMID:Byers, 1990:2238087}"	""	""	""	""	""	"0"	""	""	""	""
"00321245"	""	""	""	"1"	""	"00085"	"Cohen et al., 1996 {Localcohen_et_al_1996a.pdf:View abstract}"	"The mutation in this patient is described as being Gly222Cys (legacy numbering), but Gly223Cys was probably intended."	""	""	""	""	"0"	""	""	""	""
"00321246"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321247"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	""	""
"00321248"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321249"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321250"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321251"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321252"	""	""	""	"1"	""	"00085"	"Wilcox et al., 1994 {Localwilcox_et_al_1994.pdf:View abstract}"	"The phenotype of the patient is simply described in the abstract as moderately severe. The designation here of OI IV is a best guess of what the authors meant."	""	""	""	""	"0"	""	""	""	""
"00321253"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321254"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321255"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321256"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321258"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321259"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321260"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321261"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00321262"	""	""	""	"1"	""	"00085"	"{PMID:Redford-Badwal et al., 1996:8613526}"	""	""	""	""	""	"0"	""	""	""	""
"00321263"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00321264"	""	""	""	"1"	""	"00085"	"{PMID:Reis et al., 2005:15741671}"	""	""	""	""	""	"0"	""	""	""	""
"00321265"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321266"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321267"	""	""	""	"1"	""	"03862"	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	"The severity of the phenotype, which is inconsistent with that of other patients harbouring the same variant, has been confirmed with the submitter."	""	""	""	""	"0"	""	""	"Russian"	""
"00321268"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00321269"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00321270"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00321271"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00321272"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321273"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321274"	""	""	""	"1"	""	"00085"	"{PMID:Hruskova et al., 2016:27132807}"	"The phase of the two variants in this patient is unknown. If they are in cis, the p.Pro1186Ala protein variant will not be expressed and will not affect the phenotype."	""	""	""	""	"0"	""	""	"Czech"	""
"00321275"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321276"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321277"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321278"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321280"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA64"
"00321281"	""	""	""	"1"	""	"00085"	"{PMID:Reis et al., 2005:15741671}"	""	""	""	""	""	"0"	""	""	""	""
"00321282"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00321283"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321284"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321285"	""	""	""	"1"	""	"00085"	"{PMID:Wu et al., 2014:25289482}"	""	""	""	""	""	"0"	""	""	""	""
"00321286"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321287"	""	""	""	"1"	""	"00085"	"{PMID:Fertala et al., 1993:8424758}"	""	""	""	""	""	"0"	""	""	""	""
"00321288"	""	""	""	"1"	""	"00085"	"{PMID:Weerakkody et al., 2016:27011056}"	"The reported phenotype in this patient is OI/EDS. However, the variant would normally be expected to result in OI type I. It has been confirmed subsequently that the patient\'s phenotype is OI rather than OI/EDS."	""	""	""	""	"0"	""	""	""	""
"00321289"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321290"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321291"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321292"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321293"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	""	""	"0"	""	""	""	""
"00321294"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321295"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321296"	""	""	""	"1"	""	"03702"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321297"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321298"	""	""	""	"1"	""	"00085"	"{PMID:Konstantinidou et al., 2009:19637253}"	"At the time of publication, the authors claimed this variant to be novel, though it was not."	""	""	""	""	"0"	""	""	""	""
"00321299"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321300"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321301"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2014:24486247}"	"The OI phenotype is described as severe. The X-rays presented in Figure 3 are consistent with this description."	""	""	""	""	"0"	""	""	""	""
"00321302"	""	""	""	"1"	""	"00085"	"{PMID: Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321303"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321305"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321306"	""	""	""	"1"	""	"00085"	"{PMID:Tongkobpetch et al., 2017:28956891}"	"The authors report the variant as c.1290delG, but it should be c.1292delG.The parents of the affected child are first cousins, but the disease-causing sequence variant has arisen de novo.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Thai"	""
"00321307"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321308"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321309"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321310"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The specific OI type was confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00321311"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321312"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321313"	""	""	""	"1"	""	"03879"	""	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321314"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005808"
"00321315"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321316"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321317"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321318"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321319"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321321"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321322"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321325"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö, Prockop, Dawson and Marini, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321326"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321327"	""	""	""	"1"	""	"00085"	"{PMID:Cabral and Marini, 2004:15024692}"	""	""	""	""	""	"0"	""	""	""	""
"00321328"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Egyptian"	""
"00321329"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321330"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321331"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321332"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321333"	""	""	""	"1"	""	"00085"	"{PMID:Paterson et al., 1989:2470760}"	""	""	""	""	""	"0"	""	""	""	""
"00321334"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321335"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321336"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification."	""	""	""	""	"0"	""	""	""	""
"00321337"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321338"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321339"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321340"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321341"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA30"
"00321342"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321343"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321344"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321345"	""	""	""	"1"	""	"00085"	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	""	""	"0"	""	""	""	""
"00321346"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321347"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321348"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321349"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	"Null allele."	""	""	""	""	"0"	""	""	""	""
"00321350"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321351"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Splice mutation c.1354-12G>A not found in either of patient\'s healthy parents"	""	""	""	""	"0"	""	""	"Swedish"	""
"00321352"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321353"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321354"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321355"	""	""	""	"1"	""	"00085"	"{PMID:Pabinger et al., 2012:22579778}"	""	""	""	""	""	"0"	""	""	""	""
"00321356"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321357"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE25"
"00321358"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321359"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321360"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321361"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321362"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321363"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321364"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2012:22795118}"	"The proband inherited the mutation from her mother and has one son harbouring the same mutation. The protein-level description of the variant is reported incorrectly as p.G461AfsX79."	""	""	""	""	"0"	""	""	""	""
"00321365"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321366"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321367"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321368"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321369"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321370"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321371"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321372"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321373"	""	""	""	"1"	""	"03702"	"{PMID:Schönewolf-Greulich et al., 2011:21453639}"	""	""	""	""	""	"0"	""	""	"white"	""
"00321374"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The specific OI type was confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00321375"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321377"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321378"	""	""	""	"1"	""	"03878"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321379"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321380"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321381"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	"Father said to have OI type III/IV - wheelchair. Possibly mosaic?"	""	""	""	""	"0"	""	""	""	""
"00321382"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321383"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	""	""	"0"	""	""	""	""
"00321384"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	"This patient was subsequently presented as Patient 8 by {PMID24296239:Fratzl-Zelman et al.,2014}."	""	""	""	""	"0"	""	""	""	""
"00321385"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321386"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321387"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321388"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321389"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321390"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321391"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321392"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321393"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321394"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321395"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321396"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321397"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321398"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321399"	""	""	""	"1"	""	"00085"	"{PMID:Suzumori et al., 2011:21450031}"	"The variant in this patient is in COL1A1, not in COL1A2 as reported."	""	""	""	""	"0"	""	""	"Japanese"	""
"00321400"	""	""	""	"1"	""	"03704"	"{PMID:Byers et al., 1991:1895312}"	""	""	""	""	""	"0"	""	""	""	""
"00321401"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"There were two previously affected infants in this family with lethal OI.This patient is referred to as Family 17 in  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00321402"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321403"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	""	""
"00321404"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA17"
"00321405"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321406"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321407"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Milgrom, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321408"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321409"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321410"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321411"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321412"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00321413"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321414"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321415"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321416"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321417"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321418"	""	""	""	"1"	""	"00085"	"{PMID:Jang et al., 2019:31236376}"	"The authors do not state the OI type, but the data are consistent with a moderately severe phenotype."	""	""	""	""	"0"	""	""	""	""
"00321419"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321420"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1994:7942841}"	""	""	""	""	""	"0"	""	""	""	""
"00321421"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321425"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321426"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321427"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321428"	""	""	""	"1"	""	"03704"	"{PMID:Barsh et al., 1985:3857621}; {PMID:Chu et al., 1985:2981843}"	"This patient\'s mutation was determined simultaneously in two independent laboratories and is the first fully characterised COL1A1 mutation.In genomic DNA coordinates, the mutation in this patient is g.12149_12797del"	""	""	""	""	"0"	""	""	""	""
"00321429"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321431"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	"German"	""
"00321432"	""	""	""	"1"	""	"00085"	"{dbSNP1007085}"	""	""	""	""	""	"0"	""	""	""	""
"00321433"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321434"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321435"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321436"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321437"	""	""	""	"1"	""	"00085"	"Cohen et al., 1996b {Localcohen_et_al_1996b.pdf:View abstract}"	""	""	""	""	""	"0"	""	""	""	""
"00321438"	""	""	""	"1"	""	"00085"	"{PMID:Sarafova et al., 1998:9600458}"	""	""	""	""	""	"0"	""	""	""	""
"00321439"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321440"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321441"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321442"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1992:1445258}"	""	""	""	""	""	"0"	""	""	""	""
"00321443"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 1993:8094076}"	"The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00321444"	""	""	""	"1"	""	"00085"	"Marini et al., 1993 {Localmarini_et_al_1993c.pdf:View abstract}"	""	""	""	""	""	"0"	""	""	""	""
"00321445"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321446"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321447"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321448"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321449"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	""	""	"0"	""	""	""	""
"00321450"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321451"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321452"	""	""	""	"1"	""	"03702"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321453"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321454"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321455"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2019:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321457"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA94"
"00321458"	""	""	""	"1"	""	"00085"	"Cohen et al., 1996a {Localcohen_et_al_1996a.pdf:View abstract}"	""	""	""	""	""	"0"	""	""	""	""
"00321459"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321460"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321461"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321462"	""	""	""	"1"	""	"00085"	"{PMID:Raghunath et al., 1994:7816518}"	""	""	""	""	""	"0"	""	""	""	""
"00321463"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321464"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"To date, parental DNA not available. Neither of the patient\'s parents have an OI-phenotype."	""	""	""	""	"0"	""	""	"Swedish"	""
"00321465"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321466"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321467"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321468"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321469"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00321470"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321471"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321472"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00321473"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA40"
"00321474"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321475"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321476"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	"The variant in this patient has dbSNP identifier rs41316657 and is moderately frequent. The variant has also been identified in 136/4268 (3.2%) African American alleles in the Exome Variant server. Hence, this is probably not a disease-causing variant."	""	""	""	""	"0"	""	""	""	""
"00321477"	""	""	""	"1"	""	"03882"	""	"The variant in this patient is relatively common in most populations and is not predicted to affect splicing."	""	""	""	""	"0"	""	""	""	""
"00321478"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321479"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321480"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The phenotype in this patient is unusual in that frameshifts normally result in type I OI.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321481"	""	""	""	"1"	""	"00085"	"{PMID:Ji et al., 2019:31204718}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00321482"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321483"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"There were two previously affected infants in this family with lethal OI.This patient is referred to as Family 18 in  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00321484"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321485"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321486"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321487"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321488"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321489"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	"The variant in this patient which is described as ins C nt 1838 (E24) uses a legacy base numbering system and is also ambiguous with respect to whether the insertion is before or after base 1787. The most plausible explanation is a duplication of a C just before base 1787."	""	""	""	""	"0"	""	""	""	""
"00321490"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321491"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321492"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321493"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321494"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321495"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA48"
"00321496"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	""	""	"0"	""	""	""	""
"00321497"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321498"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321499"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321500"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321501"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321502"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321503"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321504"	""	""	""	"1"	""	"00085"	"{PMID:Reis et al., 2005:15741671}"	""	""	""	""	""	"0"	""	""	""	""
"00321505"	""	""	""	"1"	""	"00085"	"{PMID:Cui et al., 2009:19751715}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321506"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321507"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321508"	""	""	""	"1"	""	"03867"	""	"Thermal stability of the collagen triple helix is decreased by 2.5˚C"	""	""	""	""	"0"	""	""	"European"	""
"00321509"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	""	""	"0"	""	""	""	""
"00321510"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321511"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321512"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321513"	""	""	""	"1"	""	"00085"	"{PMID:Taillandier et al., 2015:26432670}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00321514"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321515"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321516"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321517"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321518"	""	""	""	"1"	""	"00085"	"{PMID:Cohen-Solal et al., 1996:8799376}"	""	""	""	""	""	"0"	""	""	""	""
"00321519"	""	""	""	"1"	""	"03704"	"{PMID:Byers, 1990:2238087}"	""	""	""	""	""	"0"	""	""	""	""
"00321520"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321521"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321523"	""	""	""	"1"	""	"00085"	"{PMID:Galicka et al., 2002:12362986}"	""	""	""	""	""	"0"	""	""	""	""
"00321524"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321525"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Mottes, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321526"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321527"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321528"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321529"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00321530"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321531"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1987:3108247}"	"The technique used was Edman degradation for amino acid sequencing."	""	""	""	""	"0"	""	""	""	""
"00321532"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321533"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321534"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321535"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321536"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321537"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321538"	""	""	""	"1"	""	"00085"	"{PMID:Malfait et al., 2007:17211858}"	""	""	""	""	""	"0"	""	""	""	""
"00321539"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321540"	""	""	""	"1"	""	"03702"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321541"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321542"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321543"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321544"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321545"	""	""	""	"1"	""	"03882"	""	""	""	""	""	""	"0"	""	""	""	""
"00321546"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE24"
"00321547"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321548"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321549"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321550"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321551"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321552"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1992:1445258}"	""	""	""	""	""	"0"	""	""	""	""
"00321553"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321554"	""	""	""	"1"	""	"00085"	"{PMID:Mottes et al., 1993:8364588}"	""	""	""	""	""	"0"	""	""	""	""
"00321557"	""	""	""	"1"	""	"00085"	"{PMID:Nicholls et al., 1991:1770532}"	""	""	""	""	""	"0"	""	""	""	""
"00321558"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321559"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"There were two previously affected infants in this family with lethal OI. The mother is mosaic for the variant.This patient is referred to as Family 19 in  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00321560"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321561"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321563"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321564"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA44"
"00321565"	""	""	""	"1"	""	"00085"	"{PMID:Siegert et al., 2004:15106082}"	""	""	""	""	""	"0"	""	""	""	""
"00321566"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321567"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00321568"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321569"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321570"	""	""	""	"1"	""	"00085"	"{PMID:Duan et al., 2016:27044453}"	"The phenotype is described as Van der Hoeve syndrome."	""	""	""	""	"0"	""	""	"Chinese"	""
"00321571"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321572"	""	""	""	"1"	""	"03891"	""	""	""	""	""	""	"0"	""	""	""	""
"00321573"	""	""	""	"1"	""	"00085"	"{PMID:Mirandola et al., 2000:11090261}  {PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321574"	""	""	""	"1"	""	"03702"	""	"The diagnosis of OI II is not 100% certain."	""	""	""	""	"0"	""	""	"white"	""
"00321575"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321576"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321577"	""	""	""	"1"	""	"00085"	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	""	""	"0"	""	""	""	""
"00321578"	""	""	""	"1"	""	"00085"	"{PMID: van Dijk et al, 2011:22570641}"	""	""	""	""	""	"0"	""	""	"white"	""
"00321579"	""	""	""	"1"	""	"03882"	""	""	""	""	""	""	"0"	""	""	""	""
"00321580"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321581"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321582"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321583"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321584"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321585"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	"Norwegian"	""
"00321586"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA91"
"00321587"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00321588"	""	""	""	"1"	""	"00085"	"{dbSNP41316667}"	"The dbSNP entry for this variant is rather muddled."	""	""	""	""	"0"	""	""	""	""
"00321589"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321590"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321591"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321592"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321593"	""	""	""	"1"	""	"00085"	"{PMID:Stover et al., 1993:8408653}"	"The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00321594"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	""	""	"0"	""	""	""	""
"00321595"	""	""	""	"1"	""	"00085"	"{PMID:Johnson et al., 2000:10931857}"	"The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00321596"	""	""	""	"1"	""	"00085"	"{PMID:Qin et al., 2005:15931785}"	"This is presumed to be a case of type I OI."	""	""	""	""	"0"	""	""	""	""
"00321597"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321598"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321599"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321600"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321601"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321602"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321603"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321604"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321605"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321606"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321607"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE02"
"00321609"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321610"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	""	""	"0"	""	""	""	""
"00321611"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321612"	""	""	""	"1"	""	"03704"	"{PMID:Byers, 1990:2238087}"	"Skips exon 27."	""	""	""	""	"0"	""	""	""	""
"00321613"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321614"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321615"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Patient\'s father, mother and younger sister do not have an OI phenotype and none of them harbour the splice site-affecting sequence variant c.1822-1G>A."	""	""	""	""	"0"	""	""	"Swedish"	""
"00321617"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321618"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1996:9007315}"	""	""	""	""	""	"0"	""	""	""	""
"00321619"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321620"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321621"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321622"	""	""	""	"1"	""	"00085"	"{PMID:Redford-Badwal et al., 1996:8613526}"	""	""	""	""	""	"0"	""	""	""	""
"00321623"	""	""	""	"1"	""	"03867"	""	""	""	""	""	""	"0"	""	""	"European"	""
"00321625"	""	""	""	"1"	""	"00085"	"{PMID:Xia et al., 2008:18755172}"	"The proband\'s daughter also harbours the same mutation."	""	""	""	""	"0"	""	""	"Chinese"	""
"00321626"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321627"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321628"	""	""	""	"1"	""	"00085"	"{PMID:Vora et al., 2017:28518170}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00321629"	""	""	""	"1"	""	"00085"	"{PMID:Barbirato et al., 2009:19283684}"	"The sequencing trace presented in figure 3B is not convincing evidence of the presence of the reported mutation. The result ought to be viewed with caution."	""	""	""	""	"0"	""	""	"Brazilian"	""
"00321630"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321631"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321632"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	"Null allele."	""	""	""	""	"0"	""	""	""	""
"00321633"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321634"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321635"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2009:19491628}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321636"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321637"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	""	""	"0"	""	""	""	""
"00321638"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321639"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321640"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	""	""	"0"	""	""	""	""
"00321641"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321642"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321643"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	""	""	"0"	""	""	""	""
"00321644"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321645"	""	""	""	"1"	""	"00085"	"{PMID:Reis et al., 2005:15741671}"	""	""	""	""	""	"0"	""	""	""	""
"00321646"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321647"	""	""	""	"1"	""	"00085"	"Viana et al., 2007 Proceedings of the 8th World Congress of Perinatal Medicine, pp 799-802."	""	""	""	""	""	"0"	""	""	""	""
"00321648"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321649"	""	""	""	"1"	""	"00085"	"{NewASHG2010:20438:Gu et al., 2010}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321650"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE03"
"00321651"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321652"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	"This mutation is incorrectly described in Marini et al., 2007 as causing a glycine to arginine substitution."	""	""	""	""	"0"	""	""	""	""
"00321653"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321654"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321655"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321656"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	"This mutation is incorrectly described in Venturi et al., 2006."	""	""	""	""	"0"	""	""	""	""
"00321657"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321658"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321659"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321661"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321662"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	"This patient was described again in more detail as Patient 1 by {PMID21567925:Parker et al., 2011} as presenting with a Russell-Silver phenotype."	""	""	""	""	"0"	""	""	""	""
"00321663"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321664"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321665"	""	""	""	"1"	""	"00085"	"{PMID:Mottes et al., 1998:10627137}"	""	""	""	""	""	"0"	""	""	""	""
"00321666"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321667"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	""	""	"0"	""	""	""	""
"00321668"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00321669"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321670"	""	""	""	"1"	""	"00085"	"{PMID:Parker et al., 2011:21567925}"	"This OI patient presents with a Russell-Silver phenotype and is thought to have somatic mosaicism for the variant, though this has not been formally demonstrated.This patient was previously described by {PMID2746617:Donnai et al., 1989} as case 2."	""	""	""	""	"0"	""	""	""	""
"00321671"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	"The reported variant is probably not pathogenic as there is no prediction that it interferes with splicing."	""	""	""	""	"0"	""	""	""	""
"00321672"	""	""	""	"1"	""	"01819"	""	"The reported variant is probably not pathogenic as there is no prediction that it interferes with splicing."	""	""	""	""	"0"	""	""	""	""
"00321673"	""	""	""	"1"	""	"03867"	""	"The reported variant is probably not pathogenic as there is no prediction that it interferes with splicing."	""	""	""	""	"0"	""	""	"European"	""
"00321674"	""	""	""	"1"	""	"03882"	""	"The variant in this patient is relatively common in most populations and is not predicted to affect splicing."	""	""	""	""	"0"	""	""	""	""
"00321675"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	"Null allele."	""	""	""	""	"0"	""	""	""	""
"00321676"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321677"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321678"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321679"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321680"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321681"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There were two previously affected infants in this family with lethal OI."	""	""	""	""	"0"	""	""	""	""
"00321682"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	"The c.2005G>A variant may or may not modify the phenotype."	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321683"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321684"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321685"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321686"	""	""	""	"1"	""	"03855"	"{PMID:Balasubramanian et al., 2016:26863094}"	"This is Patient 3 in {PMID26863094:Balasubramanian et al., 2016}.The authors have added that the phenotype is more a type IV OI rather than a type I."	""	""	""	""	"0"	""	""	""	""
"00321687"	""	""	""	"1"	""	"03867"	""	""	""	""	""	""	"0"	""	""	"European"	""
"00321688"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321691"	""	""	""	"1"	""	"00085"	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	""	""	"0"	""	""	""	""
"00321692"	""	""	""	"1"	""	"00085"	"{PMID:Chandler et al., 2018:29595812}"	"The deletion creates a new splice donor site resulting in the loss of the final five bases of the exon and causes a frameshift. The resulting phenotype is more severe than the expected type I OI.The technique used was the custom NGS Exome panel"	""	""	""	""	"0"	""	""	""	""
"00321693"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321694"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2019:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321695"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321696"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321697"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2019:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321698"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321699"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321700"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321701"	""	""	""	"1"	""	"00085"	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00321702"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	"This patient\'s mutation is incorrectly described in Table 2 of Venturi et al., 2006.Erratum in: Clin Genet. 2006 Nov;70(5):455."	""	""	""	""	"0"	""	""	""	""
"00321703"	""	""	""	"1"	""	"00085"	"{PMID:Alazami 2016:27023906}"	"The patient is described as having an EDS phenotype, but some aspects of the phenotype correspond with OI.The formal ID for this family is 5090066.The technique used was whole exome sequencing."	""	""	"Saudi Arabia"	""	"0"	""	""	""	"Fam13"
"00321704"	""	""	""	"1"	""	"00085"	"{PMID:Alazami 2016:27023906}"	"The patient is described as having an EDS phenotype, but some aspects of the phenotype correspond with OI.The formal ID for this family is 5090065.The technique used was whole genome sequencing."	""	""	"Saudi Arabia"	""	"0"	""	""	""	"Fam14"
"00321705"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2009:19491628}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00321706"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321707"	""	""	""	"1"	""	"00085"	"{PMID:Galicka et al., 2003:12870654}"	""	""	""	""	""	"0"	""	""	""	""
"00321708"	""	""	""	"1"	""	"00085"	"{PMID:Wu et al., 2014:25289482}"	""	""	""	""	""	"0"	""	""	""	""
"00321709"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321710"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321711"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321712"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00321713"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"This patient has a twin (AN_004953) who harbours the same variant."	""	""	""	""	"0"	""	""	"Swedish"	""
"00321714"	""	""	""	"1"	""	"00085"	"{PMID:Wu et al., 2014:25289482}"	""	""	""	""	""	"0"	""	""	""	""
"00321715"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	"This patient was subsequently presented as Patient 5 by {PMID24296239:Fratzl-Zelman et al.,2014}."	""	""	""	""	"0"	""	""	""	""
"00321716"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	""	""	"0"	""	""	""	""
"00321717"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321718"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00321719"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00321720"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321721"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321722"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Quite severely affected despite mutation with expected null allele effect: p.(Arg697*)"	""	""	""	""	"0"	""	""	"Swedish"	""
"00321723"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321724"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321725"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321727"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321728"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321729"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321730"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE13"
"00321731"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321732"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321733"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321734"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	"This mutation is incorrectly described in Ries-Levavi et al., 2004."	""	""	""	""	"0"	""	""	""	""
"00321735"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321736"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Trummer, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321737"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321738"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321739"	""	""	""	"1"	""	"00085"	"{PMID:Sarafova et al., 1998:9600458}"	""	""	""	""	""	"0"	""	""	""	""
"00321740"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA27"
"00321741"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321742"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321743"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321744"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00321745"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification."	""	""	""	""	"0"	""	""	""	""
"00321746"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321747"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321748"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321749"	""	""	""	"1"	""	"03704"	"{PMID:Starman et al., 1989:2794057}"	"The technique used was Edman degradation for amino acid sequencing."	""	""	""	""	"0"	""	""	""	""
"00321750"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	""	""	"0"	""	""	""	""
"00321751"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Mother with OI type III. Older sister (with OI as well) born premature and passed away after complications caused by intracranial hemorrhage."	""	""	""	""	"0"	""	""	"Swedish"	""
"00321752"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321753"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321754"	""	""	""	"1"	""	"00085"	"{dbSNP41316673}"	"The dbSNP entry for this variant is rather muddled."	""	""	""	""	"0"	""	""	""	""
"00321755"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321756"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The G>A substitution at the final base of exon 31 probably reduces the efficiency of splicing."	""	""	""	""	"0"	""	""	""	""
"00321757"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321758"	""	""	""	"1"	""	"00085"	"{PMID:Shaheen et al., 2012:23054245}"	"The patient has an affected sibling harbouring the same variant, hence gonadal mosaicism is suspected in one parent."	""	""	""	""	"0"	""	""	"Saudi Arabian"	""
"00321759"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321761"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321762"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321763"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321764"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321765"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321766"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321767"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321768"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321769"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321770"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321771"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321772"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321773"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321774"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	""	""	"0"	""	""	""	""
"00321775"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321776"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321777"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321778"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321779"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321780"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321781"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	"de novo mutation"	""	""	""	""	"0"	""	""	""	""
"00321782"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321783"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321784"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00321785"	""	""	""	"1"	""	"00085"	"{PMID:Zhuang et al., 1991:2035536}"	""	""	""	""	""	"0"	""	""	""	""
"00321786"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321788"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	"In the absence of supporting information such as inheritance from parents or functional studies, it is not certain that the variant in this patient is the cause of the OI phenotype."	""	""	""	""	"0"	""	""	""	""
"00321789"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321790"	""	""	""	"1"	""	"00085"	"{dbSNP35017779}"	""	""	""	""	""	"0"	""	""	""	""
"00321791"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA93"
"00321792"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321793"	""	""	""	"1"	""	"03704"	"{PMID:Wallis et al., 1990:2339700}"	""	""	""	""	""	"0"	""	""	""	""
"00321795"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	"The position of the varaint is misreported in Table 2, but can be deduced from the sequencing trace in Fig 5 of {PMID25742658:Wang et al., 2015}. The error is corrected in the subsequently published erratum."	""	""	""	""	"0"	""	""	"Chinese"	""
"00321796"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321797"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There were two previously affected infants in this family with lethal OI."	""	""	""	""	"0"	""	""	""	""
"00321798"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA55"
"00321799"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321800"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00321801"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321802"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321803"	""	""	""	"1"	""	"00085"	"{PMID:Pallos et al., 2001:11286811}"	"There is also dentinogenesis imperfecta associated with this mutation. The title of the paper mistakenly describes the mutation as G599C."	""	""	""	""	"0"	""	""	""	""
"00321804"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321805"	""	""	""	"1"	""	"00085"	"Cohn et al., 1990c {Localcohn_et_al_1990c.pdf:View abstract}"	"The mutation is mistakenly described as Gly569Asp in the abstract."	""	""	""	""	"0"	""	""	""	""
"00321806"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321807"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1992:1445258}"	""	""	""	""	""	"0"	""	""	""	""
"00321808"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There were two previously affected infants in this family with lethal OI."	""	""	""	""	"0"	""	""	""	""
"00321809"	""	""	""	"1"	""	"00085"	"{PMID:Mackay et al., 1993:8100209}"	""	""	""	""	""	"0"	""	""	""	""
"00321810"	""	""	""	"1"	""	"03856"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321811"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321812"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321813"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321814"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321815"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321816"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00321817"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321818"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321819"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2014:24486247}"	"The OI phenotype is described as severe. The X-rays presented in Figure 2 are consistent with this description. The deletion is described as 82 bp but is actually 85 bp."	""	""	""	""	"0"	""	""	""	""
"00321820"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321821"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The G>A substitution at the -1 position is predicted to shift the splice site and cause a translation frameshift."	""	""	""	""	"0"	""	""	""	""
"00321822"	""	""	""	"1"	""	"03853"	""	"This patient is described as Individual T4 by {PMID25086671:Rauch et al., 2014}."	""	""	""	""	"0"	""	""	"white"	""
"00321823"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321824"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321825"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321826"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	"The mutation in this patient would be predicted to result in a frameshift and a PTC which should give a phenotype of OI I. This suggests that the mutation may cause the exon to be skipped, giving rise to the OI III phenotype.The mutation for this patient is incorrectly described (c.2246_2247delTC) in the main text. The bases at these positions are G & T respectively."	""	""	""	""	"0"	""	""	""	""
"00321827"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321828"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321829"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321830"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321831"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321832"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321833"	""	""	""	"1"	""	"03855"	""	"Although classified as OI III by the clinicians, the accompanying letter mentions multiple in-utero fractures. This may suggest that the true OI type is II or II/III."	""	""	""	""	"0"	""	""	""	""
"00321834"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There were two previously affected infants in this family with lethal OI."	""	""	""	""	"0"	""	""	""	""
"00321835"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1997:9143923}"	""	""	""	""	""	"0"	""	""	""	""
"00321837"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321838"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321839"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321840"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321841"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321842"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321843"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321844"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321845"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321846"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321847"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321848"	""	""	""	"1"	""	"00085"	"{PMID:Forlino et al., 1994:7881420}"	""	""	""	""	""	"0"	""	""	""	""
"00321849"	""	""	""	"1"	""	"00085"	"{PMID:Zhuang et al., 1996:8829649}"	"The patient was described in the paper as OI IV(?)."	""	""	""	""	"0"	""	""	""	""
"00321850"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1997:9240878}"	""	""	""	""	""	"0"	""	""	""	""
"00321851"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00321852"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321853"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321854"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321855"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321856"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321857"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321858"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321859"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321860"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321861"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321862"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	"do novo mutation"	""	""	""	""	"0"	""	""	""	""
"00321863"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00321864"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00321866"	""	""	""	"1"	""	"00085"	"{PMID:Zhang 2015:26377240}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	"Chinese"	""
"00321867"	""	""	""	"1"	""	"00085"	"{PMID:Mauri et al., 2016:27484908}"	"The patient has juvenile open angle glaucoma/primary open angle glaucoma."	""	""	""	""	"0"	""	""	"American"	""
"00321868"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Egyptian"	""
"00321869"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321870"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321871"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321872"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321873"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321874"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321875"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321876"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321877"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321878"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321879"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2019:29764212}"	"The technique used was whole genome sequencing."	""	""	""	""	"0"	""	""	"Chinese"	""
"00321882"	""	""	""	"1"	""	"00085"	"{PMID: van Dijk et al, 2011:22570641}"	""	""	""	""	""	"0"	""	""	"white"	""
"00321883"	""	""	""	"1"	""	"00085"	"{PMID:Reis et al., 2005:15741671}"	""	""	""	""	""	"0"	""	""	""	""
"00321884"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321885"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"This patient is referred to as Family 4 in  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00321886"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321887"	""	""	""	"1"	""	"03855"	""	"The OI type for this patient was not specified by the centre that requested the variant detection, but symptoms are consistent with type III or IV (osteopenia, slender bones and ribs, coarsening of trabecular pattern, flat occiput with steep base to skull, pronounced scoliosis)."	""	""	""	""	"0"	""	""	""	""
"00321888"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321889"	""	""	""	"1"	""	"00085"	"{PMID:Chamberlain et al., 2004:14976317}"	""	""	""	""	""	"0"	""	""	""	""
"00321890"	""	""	""	"1"	""	"00085"	"{PMID:Maasalu et al., 2015:25958000}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Estonian"	""
"00321891"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00321892"	""	""	""	"1"	""	"03872"	"{PMID:Bai et al., 2014:24928016}"	"This patient was presented subsequently as Patient 1 by {PMID26307460:Wang et al., 2015}."	""	""	""	""	"0"	""	""	""	""
"00321893"	""	""	""	"1"	""	"00085"	"{PMID:Westerhausen et al., 1990:2116413}"	""	""	""	""	""	"0"	""	""	""	""
"00321894"	""	""	""	"1"	""	"00085"	"{PMID:Fan et al., 2015:26634493}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Chinese"	""
"00321895"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1997:9240878}"	""	""	""	""	""	"0"	""	""	""	""
"00321896"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321897"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321898"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321899"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321900"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321901"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 1996:8910493}"	"Three different RNA splicing products are produced from the mutant allele in this patient. The most abundant product produces the protein deletion that is reported. See Fig. 3 of Wang et al., 1996 for full details.In genomic DNA coordinates, the mutation in this patient is g.15815_16373del The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00321902"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Neither of patient\'s healthy parents carry the COL1A1 c.2343+1G>A variant"	""	""	""	""	"0"	""	""	"Swedish"	""
"00321903"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321904"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321905"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Trummer and Eyre, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321906"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321907"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321908"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321909"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321910"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321911"	""	""	""	"1"	""	"00085"	"{PMID:Chandler et al., 2018:29595812}"	"The technique used was the custom NGS Exome panel"	""	""	""	""	"0"	""	""	""	""
"00321912"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321913"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321914"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA10"
"00321915"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321916"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321917"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321918"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00321919"	""	""	""	"1"	""	"00475"	""	"de novo mutation"	""	""	""	""	"0"	""	""	""	""
"00321920"	""	""	""	"1"	""	"00475"	""	"de novo mutation"	""	""	""	""	"0"	""	""	"white"	""
"00321921"	""	""	""	"1"	""	"00085"	"{PMID:Hruskova et al., 2016:27132807}"	"The variant in this patient was incorrectly reported as c.2382T>C but the authors have confirmed that it ought to be c.2382A>G.It is improbable that the variant is the cause of the OI phenotype in this patient."	""	""	""	""	"0"	""	""	"Czech"	""
"00321922"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	"The variant is wrongly reported as c.2384-2394del."	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321923"	""	""	""	"1"	""	"00085"	"{Localsuperti-furga_et_al_1994.pdf:Superti-Furga et al., 1994}"	"The patient also has Williams syndrome due to hemizygosity at the elastin locus (ELN)."	""	""	""	""	"0"	""	""	""	""
"00321924"	""	""	""	"1"	""	"00085"	"{PMID:Donkervoort et al., 2013:24070816}"	"The patient also has Duchenne muscular dystrophy."	""	""	""	""	"0"	""	""	""	""
"00321925"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321926"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00321927"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA61"
"00321928"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00321929"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321931"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321932"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321933"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321934"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321936"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321937"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321938"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00321939"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321940"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321941"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321942"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321943"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321944"	""	""	""	"1"	""	"00085"	"{PMID:Westerhausen et al., 1990:2116413}"	""	""	""	""	""	"0"	""	""	""	""
"00321945"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00321946"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005801"
"00321947"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA78"
"00321948"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00321949"	""	""	""	"1"	""	"00085"	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	""	""	"0"	""	""	""	""
"00321950"	""	""	""	"1"	""	"03862"	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	""	""	"0"	""	""	"Tatar"	""
"00321951"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321952"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321953"	""	""	""	"1"	""	"00085"	"{PMID:Tsuneyoshi et al., 1991:1874719}"	""	""	""	""	""	"0"	""	""	""	""
"00321954"	""	""	""	"1"	""	"00085"	"{PMID:Hoefele et al., 2016:27059743}"	"The proband also harbours the sequence variant NM_000296.3:c.5722C>T, inherited from his mother, which results in a phenotype of autosomal dominant polycystic kidney disease (ADPKD)."	""	""	""	""	"0"	""	""	"Turkish"	""
"00321956"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321957"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	""	""
"00321958"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321959"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321960"	""	""	""	"1"	""	"00085"	"{PMID:Genovese et al., 1989:2542316}"	"A single-base substitution in intron 35 (systematic exon numbering) creates a new donor splice site resulting in retention of the first 75 bp of the intron which are translated into 25 amino acids, maintaining the reading frame. Unpublished molecular details were kindly provided by David Rowe. In genomic DNA coordinates, the mutation in this patient is AF017178.2:g.16390C>T. The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00321961"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	"This patient is presumed to harbour exactly the same mutation as that described by {PMID:Genovese et al., 1989:2542316}."	""	""	""	""	"0"	""	""	""	""
"00321962"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The specific OI type was confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00321963"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The specific OI type was confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00321964"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321965"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321966"	""	""	""	"1"	""	"00085"	"{PMID:Wallace et al., 2014:25324685}"	"Analysis of mRNA reveals a complex pattern of alternative splice site usage."	""	""	""	""	"0"	""	""	""	""
"00321967"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00321969"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00321971"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321972"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321973"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00321974"	""	""	""	"1"	""	"03702"	"{PMID:Lund et al., 1997:9101304}"	""	""	""	""	""	"0"	""	""	"white"	""
"00321975"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2006:16604495}"	"The detection template is assumed to be DNA but this is not stated explicitly in the English abstract of the paper which is in Chinese."	""	""	""	""	"0"	""	""	""	""
"00321976"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00321977"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00321978"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00321979"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00321980"	""	""	""	"1"	""	"03702"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00321981"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321982"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00321983"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321984"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321985"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321986"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00321987"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321988"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321989"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321990"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00321991"	""	""	""	"1"	""	"03867"	""	"Thermal stability of collagen triple helix is decreased by 1.25˚C. Neither parent harbours this variant."	""	""	""	""	"0"	""	""	"European"	""
"00321992"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321993"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00321994"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00321995"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321996"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321997"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00321998"	""	""	""	"1"	""	"00085"	"{PMID:Kloen et al., 2018:29564298}"	"The proband\'s younger brother also harbours the same variant and also has OI type III."	""	""	""	""	"0"	""	""	""	""
"00321999"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322000"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322001"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322002"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322003"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322004"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322005"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322006"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322007"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00322010"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA05"
"00322011"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"This patient is referred to as Family 5 in  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00322012"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	""	""	"0"	""	""	""	""
"00322013"	""	""	""	"1"	""	"00085"	"{PMID:Liu et al., 2007:17392686}"	""	""	""	""	""	"0"	""	""	""	""
"00322014"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322015"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322016"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322017"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done mutation identification."	""	""	""	""	"0"	""	""	""	""
"00322018"	""	""	""	"1"	""	"00085"	"{PMID:Reis et al., 2005:15741671}"	""	""	""	""	""	"0"	""	""	""	""
"00322019"	""	""	""	"1"	""	"03702"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322020"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2014:24486247}"	"The OI phenotype is described as severe. The X-rays presented in Figure 3 are consistent with this description."	""	""	""	""	"0"	""	""	""	""
"00322021"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322022"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322023"	""	""	""	"1"	""	"00085"	"{PMID:Aerts et al., 2006:16566045}"	"The paper provides little information about how the mutation was detected."	""	""	""	""	"0"	""	""	""	""
"00322024"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322025"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	"The systematic protein-level description in Marini et al., 2007 is mistakenly recorded as p.Gly833Ala."	""	""	""	""	"0"	""	""	""	""
"00322026"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322027"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	"Skips exon 37."	""	""	""	""	"0"	""	""	""	""
"00322028"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00322029"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322030"	""	""	""	"1"	""	"00085"	"{PMID:Nuytinck et al., 1996:8786074}"	""	""	""	""	""	"0"	""	""	""	""
"00322031"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322032"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322033"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	"The substituting amino acid is mistakenly recorded as Ser in Marini et al., 2007."	""	""	""	""	"0"	""	""	""	""
"00322034"	""	""	""	"1"	""	"00085"	"{PMID:Ackermann and Levine, 2017:28436160}"	"The three siblings in this family are compound heterozygous for the parental variants and exhibit an OI/EDS phenotype which is more severe than the maternal OI type I phenotype. The father is clinically unaffected."	""	""	""	""	"0"	""	""	""	""
"00322035"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00322036"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00322037"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322038"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322039"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322040"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00322041"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	""	""	"0"	""	""	"Brazilian"	""
"00322042"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA67"
"00322043"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322044"	""	""	""	"1"	""	"03704"	"{PMID:Culbert et al., 1995:7487936}"	""	""	""	""	""	"0"	""	""	""	""
"00322045"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322046"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322047"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322048"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322049"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322050"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1988:3403550}"	""	""	""	""	""	"0"	""	""	""	""
"00322051"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification."	""	""	""	""	"0"	""	""	""	""
"00322052"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Turkish"	""
"00322053"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322054"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322057"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"The patient\'s brother (AN_005070) and father (AN_004970) both harbour the p.(Pro850Leufs*258) and p.(Glu1337Lys) variants in COL1A1, probably in cis."	""	""	""	""	"0"	""	""	""	""
"00322058"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322059"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322060"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322061"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"This patient is referred to as Family 25 by  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00322062"	""	""	""	"1"	""	"03704"	"{Localcohn_et_al_1990c.pdf:Cohn et al., 1990}"	""	""	""	""	""	"0"	""	""	""	""
"00322063"	""	""	""	"1"	""	"03855"	""	"It is assumed that the two nucleotide changes have occured on the same allele."	""	""	""	""	"0"	""	""	""	""
"00322064"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322065"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322066"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	""	""	"0"	""	""	"Brazilian"	""
"00322067"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322068"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322069"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322070"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00322071"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322072"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322073"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322074"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322075"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322076"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322078"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA96"
"00322079"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322080"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322081"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322082"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322083"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322084"	""	""	""	"1"	""	"03704"	"{PMID:Pace et al., 2001:11668615}"	""	""	""	""	""	"0"	""	""	""	""
"00322085"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322086"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322087"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00322088"	""	""	""	"1"	""	"03856"	""	"Voluntary interruption of pregnancy after ultrasound"	""	""	""	""	"0"	""	""	"white"	""
"00322089"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322090"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322091"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322092"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322093"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322094"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322096"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322097"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322098"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322099"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification."	""	""	""	""	"0"	""	""	""	""
"00322100"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00322101"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322102"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322103"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322104"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Milgrom, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322105"	""	""	""	"1"	""	"00085"	"{PMID:Horwitz et al., 1999:10086387}"	""	""	""	""	""	"0"	""	""	""	""
"00322106"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1999:10408781}"	""	""	""	""	""	"0"	""	""	""	""
"00322107"	""	""	""	"1"	""	"00085"	"{PMID:Witecka et al., 2008:18670065}"	"The proband also had a twin (patient 18K) that harboured the same mutation."	""	""	""	""	"0"	""	""	""	""
"00322108"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00322109"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322110"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322111"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00322113"	""	""	""	"1"	""	"00085"	"{PMID:Yin et al., 2018:30131598}"	"The patient was a phenotypically healthy woman that carried the fetus with a de novo variant in COL1A1 causing the OI. Following confirmation through prenatal diagnostic testing at 30 weeks of gestation, the mother decided to receive an induced elective termination ({PMID:Yin et al., 2018:30131598})."	""	""	""	""	"0"	""	""	""	""
"00322114"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322115"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322116"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322117"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00322118"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322119"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322120"	""	""	""	"1"	""	"00085"	"{PMID:Steinmann et al., 1991:1953667}"	""	""	""	""	""	"0"	""	""	""	""
"00322121"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322122"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00322123"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322124"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322125"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322126"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322127"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00322128"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322129"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322130"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA38"
"00322131"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322132"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322133"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00322134"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322135"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322136"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00322137"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322138"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322139"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322140"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322141"	""	""	""	"1"	""	"03855"	""	"Family studies show the c.2644C>T and c.2932C>T variants to be in cis."	""	""	""	""	"0"	""	""	""	""
"00322142"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322143"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00322144"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00322145"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322146"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322147"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322148"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00322149"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322150"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322151"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322152"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322153"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00322154"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322155"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00322156"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Neither of the patient\'s parents have an OI phenotype or harbour the deletion c.2667+3_2667+6del variant in COL1A1."	""	""	""	""	"0"	""	""	"Swedish"	""
"00322157"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322158"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322159"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Variant c.2668-1G>A not found in either healthy parent of this child with OI type IA."	""	""	""	""	"0"	""	""	"Swedish"	""
"00322160"	""	""	""	"1"	""	"03856"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322161"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322162"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	"Genomic deletion of exons 40-48. Father of proband appears to have OI III/IV - possibly mosaic?"	""	""	""	""	"0"	""	""	""	""
"00322163"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322164"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	""	""	"0"	""	""	""	""
"00322165"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00322166"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322167"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322168"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322169"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322170"	""	""	""	"1"	""	"03704"	"{PMID:Starman et al., 1989:2794057}"	"The technique used was Edman degradation for amino acid sequencing."	""	""	""	""	"0"	""	""	""	""
"00322171"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	"This patient may have Hallerman-Streif syndrome. The overall phenotype is milder than OI type II but protein abnormalities were consistent with OI type II."	""	""	""	""	"0"	""	""	""	""
"00322172"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322173"	""	""	""	"1"	""	"03855"	""	"The reported variant is relatively common in some populations ({ExAC17-48266851-C-T}) and is probably not the cause of OI in this patient. In addition, the substituted glycine lies in the X position of the triplet."	""	""	""	""	"0"	""	""	""	""
"00322174"	""	""	""	"1"	""	"03704"	"{PMID:Pace et al., 2001:11668615}"	"This patient is referred to as Family 26 by  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00322175"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	"The patient\'s variant is in exon 40, not 39 as reported."	""	""	""	""	"0"	""	""	""	""
"00322176"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	"A frameshift, as predicted for this variant, would be expected to result in OI type I, not type III."	""	""	""	""	"0"	""	""	"Brazilian"	""
"00322177"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"The substitution is mistakenly reported as being at base 2749 in Marini et al., 2007."	""	""	""	""	"0"	""	""	""	""
"00322178"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322179"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00322180"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322181"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322183"	""	""	""	"1"	""	"00085"	"{PMID:Vogel et al., 1987:3667599}"	""	""	""	""	""	"0"	""	""	""	""
"00322184"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	""	""	"0"	""	""	""	""
"00322185"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00322186"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322187"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322188"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322189"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322190"	""	""	""	"1"	""	"03882"	""	""	""	""	""	""	"0"	""	""	""	""
"00322191"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA31"
"00322192"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322193"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322194"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322195"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322196"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322197"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322198"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322199"	""	""	""	"1"	""	"03881"	""	""	""	""	""	""	"0"	""	""	""	""
"00322200"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322201"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322202"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322203"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322204"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322205"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322206"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322208"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00322209"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322210"	""	""	""	"1"	""	"03862"	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	""	""	"0"	""	""	"Russian/Chuvash"	""
"00322211"	""	""	""	"1"	""	"03878"	""	"The COL1A2 variant in this patient is relatively common in some populations ({ExAC7-94058641-A-C}) and might modify the phenotype resulting from the COL1A1 variant."	""	""	""	""	"0"	""	""	"white"	""
"00322212"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322213"	""	""	""	"1"	""	"00085"	"{ASHG06:30366:Sun et al., 2006}"	"The abstract describes the patient as having a mild form of OI which is interpreted to mean OI I. The substitution is mistakenly described as occuring at amino acid 970, rather than 958."	""	""	""	""	"0"	""	""	""	""
"00322215"	""	""	""	"1"	""	"03872"	""	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322216"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322217"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322218"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322219"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322220"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	"This substituting amino acid is mistakenly given as Arginine in Marini et al., 2007."	""	""	""	""	"0"	""	""	""	""
"00322221"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The specific OI type was confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00322222"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322223"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322224"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322225"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322226"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322227"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322228"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322229"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322230"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2002:11706004}"	"This patient was previously reported as Patient 3 by {PMID:Horwitz et al., 1999:10086387}."	""	""	""	""	"0"	""	""	""	""
"00322231"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322232"	""	""	""	"1"	""	"00085"	"{PMID:Bonaventure et al., 1992:1511982}"	""	""	""	""	""	"0"	""	""	""	""
"00322233"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322234"	""	""	""	"1"	""	"00085"	"{PMID:McVey et al., 2017:28872564}"	"There is an affected father and son in the family and they share symptoms with Grant syndrome."	""	""	""	""	"0"	""	""	"white"	""
"00322235"	""	""	""	"1"	""	"03882"	""	""	""	""	""	""	"0"	""	""	""	""
"00322236"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322237"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322238"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322239"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322240"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322241"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00322242"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322243"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322244"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322245"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322246"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00322247"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00322248"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322249"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322250"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322251"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322252"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322253"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00322254"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322255"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322256"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322257"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322258"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The patient\'s frameshift is incorrectly described in the paper but the corrected details have been confirmed with the authors, as has the specific OI type."	""	""	""	""	"0"	""	""	""	""
"00322259"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 1989:2745420}"	"The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00322260"	""	""	""	"1"	""	"03855"	""	"Patient also has 2405G>T in COL1A2"	""	""	""	""	"0"	""	""	""	""
"00322261"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322262"	""	""	""	"1"	""	"00085"	"{PMID:Gensure et al., 2005:15864348}"	""	""	""	""	""	"0"	""	""	""	""
"00322263"	""	""	""	"1"	""	"00085"	"{PMID:Suphapeetiporn et al., 2007:17309652}"	""	""	""	""	""	"0"	""	""	""	""
"00322264"	""	""	""	"1"	""	"00085"	"{PMID:Gensure et al., 2005:15864348}"	""	""	""	""	""	"0"	""	""	""	""
"00322265"	""	""	""	"1"	""	"00085"	"{PMID:Gensure et al., 2005:15864348}"	""	""	""	""	""	"0"	""	""	""	""
"00322266"	""	""	""	"1"	""	"00085"	"{PMID:Kamoun-Goldrat et al., 2008:18553566}"	""	""	""	""	""	"0"	""	""	""	""
"00322267"	""	""	""	"1"	""	"00085"	"{PMID:Cho et al., 2008:18704262}"	""	""	""	""	""	"0"	""	""	"Korean"	""
"00322268"	""	""	""	"1"	""	"00085"	"{PMID:Cho et al., 2008:18704262}"	"The patient\'s sister (Patient 3) also harbours the same mutation."	""	""	""	""	"0"	""	""	"Korean"	""
"00322269"	""	""	""	"1"	""	"00085"	"{PMID:Cho et al., 2008:18704262}"	""	""	""	""	""	"0"	""	""	"Korean"	""
"00322270"	""	""	""	"1"	""	"00085"	"{PMID:Cho et al., 2008:18704262}"	""	""	""	""	""	"0"	""	""	"Korean"	""
"00322271"	""	""	""	"1"	""	"00085"	"{PMID:Cho et al., 2008:18704262}"	""	""	""	""	""	"0"	""	""	"Korean"	""
"00322272"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00322273"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322274"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322275"	""	""	""	"1"	""	"00085"	"{PMID:Ranganath et al., 2011:21249479}"	"The proband\'s mother has been shown not to carry the variant but no sample could be obtained from the father."	""	""	""	""	"0"	""	""	"Indian"	""
"00322276"	""	""	""	"1"	""	"00085"	"{PMID:Cerruti-Mainardi et al., 2011:21567126}"	"There is variability of symptoms within the family which is presented."	""	""	""	""	"0"	""	""	"Italian"	""
"00322277"	""	""	""	"1"	""	"00085"	"Blood (ASH Annual Meeting Abstracts) 2005 106: Abstract 736"	"Apart from skeletal deformaties, the patient also presented with easy bruising. She was shown to have a defect in platelet morphology and function."	""	""	""	""	"0"	""	""	""	""
"00322278"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322279"	""	""	""	"1"	""	"00085"	"{PMID:Navarre et al., 2013:23389580}"	""	""	""	""	""	"0"	""	""	""	""
"00322280"	""	""	""	"1"	""	"00085"	"{PMID:Prior et al., 2012:23047998}"	"The proband\'s mother and uncle also harbour the same variant and are affected by Caffey disease."	""	""	""	""	"0"	""	""	""	""
"00322281"	""	""	""	"1"	""	"00085"	"{PMID:Kitaoka et al., 2014:24390061}"	"The proband\'s mother, sister and brother all harbour the Caffey-disease sequence variant but the mother and sister have no disease symptoms."	""	""	""	""	"0"	""	""	"Japanese"	""
"00322282"	""	""	""	"1"	""	"00085"	"{PMID:Spranger and Lausch, 2016:27245539}"	"The variant was discovered in affected sisters and also in their mother who had no symptoms."	""	""	""	""	"0"	""	""	""	""
"00322283"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322284"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE17"
"00322285"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"The intron 42 variant is incorrectly described as c.3046-4_3046-5dupCT. This variant has been shown not disrupt splicing and is presumed not to be pathogenic. For this reason, the p.(Pro810Ser) variant is presumed to be disease causing and because it\'s a highly conserved amino acid."	""	""	""	""	"0"	""	""	""	""
"00322286"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322287"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	"Null allele."	""	""	""	""	"0"	""	""	""	""
"00322288"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The patient\'s mutation is incorrectly described in the paper but the corrected details have been confirmed with the authors, as has the specific OI type. This patient was previously published in {PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)."	""	""	""	""	"0"	""	""	""	""
"00322289"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322290"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322291"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322292"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322293"	""	""	""	"1"	""	"00085"	"{PMID:Pack et al., 1989:251192}"	""	""	""	""	""	"0"	""	""	""	""
"00322294"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2012:23072183}"	""	""	""	""	""	"0"	""	""	""	""
"00322295"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322296"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322297"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322298"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322299"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322300"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	""	""	"0"	""	""	""	""
"00322301"	""	""	""	"1"	""	"03702"	"Lund, personal communication"	""	""	""	""	""	"0"	""	""	""	""
"00322302"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322303"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322304"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322305"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322306"	""	""	""	"1"	""	"00085"	"{PMID:Majeed et al., 2019:30942118}"	"The fetus also exhibited a balanced translocation t(1;20)(p13;p11.2)."	""	""	""	""	"0"	""	""	""	""
"00322307"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322308"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322309"	""	""	""	"1"	""	"03704"	"{PMID:Wallis et al., 1990:2339700}"	""	""	""	""	""	"0"	""	""	""	""
"00322310"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322311"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322312"	""	""	""	"1"	""	"00085"	"{PMID:Ries et al., 2000:11113887}"	""	""	""	""	""	"0"	""	""	""	""
"00322313"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00322314"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	""	""	"0"	""	""	""	""
"00322315"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322316"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322317"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322318"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00322319"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322320"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322321"	""	""	""	"1"	""	"00085"	"{PMID:Niramitmahapanya et al., 2013:23682531}"	"The DNA-level variant description is incorrectly reported as c.3202C>T which appears to be based on counting from the start of the transcript."	""	""	""	""	"0"	""	""	"Thai"	""
"00322322"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322323"	""	""	""	"1"	""	"00085"	"{PMID:Kaneto et al., 2014:24767406}"	""	""	""	""	""	"0"	""	""	""	""
"00322324"	""	""	""	"1"	""	"00085"	"{PMID:Duan et al., 2016:27044453}"	"The phenotype is described as Van der Hoeve syndrome."	""	""	""	""	"0"	""	""	"Chinese"	""
"00322325"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322326"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322327"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322329"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA50"
"00322330"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	""	""	"0"	""	""	""	""
"00322331"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322332"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 2008:18028452}"	""	""	""	""	""	"0"	""	""	""	""
"00322333"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00322334"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322335"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322336"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322337"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322338"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322339"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322340"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322341"	""	""	""	"1"	""	"00085"	"{PMID:Virdi et al., 1994:8125479}"	""	""	""	""	""	"0"	""	""	""	""
"00322342"	""	""	""	"1"	""	"00085"	"{PMID:Namikawa et al., 1995:7789952}"	""	""	""	""	""	"0"	""	""	""	""
"00322343"	""	""	""	"1"	""	"00085"	"{PMID:Zhuang et al., 1996:8829649}"	""	""	""	""	""	"0"	""	""	""	""
"00322344"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1997:9101304}"	""	""	""	""	""	"0"	""	""	""	""
"00322345"	""	""	""	"1"	""	"00085"	"{PMID:Chamberlain et al., 2004:14976317}"	""	""	""	""	""	"0"	""	""	""	""
"00322346"	""	""	""	"1"	""	"00085"	"{PMID:Witecka et al., 2008:18670065}"	""	""	""	""	""	"0"	""	""	""	""
"00322347"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322348"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322349"	""	""	""	"1"	""	"00085"	"{PMID:Sule et al., 2013:23443412}"	""	""	""	""	""	"0"	""	""	""	""
"00322350"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Two collagen I alterations were found in this patient with OI type III: c.3118G>A (p.(Gly1040Ser)) in COL1A1 only in the patient and c.1727A>G (p.(His576Arg)) in COL1A2 in both the patient and his non-affected mother."	""	""	""	""	"0"	""	""	"Swedish"	""
"00322351"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322352"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005803"
"00322353"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322355"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322356"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322357"	""	""	""	"1"	""	"03704"	"{PMID:Pace et al., 2001:11668615}"	""	""	""	""	""	"0"	""	""	""	""
"00322358"	""	""	""	"1"	""	"03704"	"{PMID:Pace et al., 2001:11668615}"	""	""	""	""	""	"0"	""	""	""	""
"00322359"	""	""	""	"1"	""	"00085"	"{PMID:Chandler et al., 2018:29595812}"	"The technique used was the custom NGS Exome panel"	""	""	""	""	"0"	""	""	""	""
"00322360"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322361"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322362"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2009:19491628}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322363"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	""	""
"00322364"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322365"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322366"	""	""	""	"1"	""	"00085"	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	""	""	"0"	""	""	""	""
"00322367"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00322368"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1997:9101304}"	""	""	""	""	""	"0"	""	""	""	""
"00322369"	""	""	""	"1"	""	"00085"	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	""	""	"0"	""	""	""	""
"00322370"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322371"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322372"	""	""	""	"1"	""	"00085"	"{PMID:Hawkins et al., 1991:1939261}"	"The technique used was ribonuclease A analysis (RNaseA)."	""	""	""	""	"0"	""	""	""	""
"00322373"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322374"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	""	""	"0"	""	""	""	""
"00322375"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2012:22795119}"	"The protein-level description of the deletion is incorrectly reported as p.1051_1053delProGlyAla."	""	""	""	""	"0"	""	""	""	""
"00322376"	""	""	""	"1"	""	"00085"	"{PMID:Symoens et al., 2017:28261977}"	"The patient is mosaic for the sequence variant."	""	""	""	""	"0"	""	""	"white"	""
"00322377"	""	""	""	"1"	""	"03704"	"{PMID:Pace et al., 2001:11668615}"	""	""	""	""	""	"0"	""	""	""	""
"00322378"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2003:12538651}"	""	""	""	""	""	"0"	""	""	""	""
"00322379"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification.The duplication is incorrectly described at the protein level as p.Pro1051_Ala0153dup."	""	""	""	""	"0"	""	""	""	""
"00322380"	""	""	""	"1"	""	"03888"	""	""	""	""	""	""	"0"	""	""	""	""
"00322381"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322382"	""	""	""	"1"	""	"03890"	""	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322383"	""	""	""	"1"	""	"03704"	"{PMID:Wallis et al., 1992:1460047}"	""	""	""	""	""	"0"	""	""	""	""
"00322384"	""	""	""	"1"	""	"03867"	""	""	""	""	""	""	"0"	""	""	"European"	""
"00322385"	""	""	""	"1"	""	"00085"	"{PMID:Ward et al., 2001:11317364}"	""	""	""	""	""	"0"	""	""	""	""
"00322386"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322387"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322388"	""	""	""	"1"	""	"03886"	""	""	""	""	""	""	"0"	""	""	""	""
"00322389"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	""	""	"0"	""	""	"Brazilian"	""
"00322390"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322391"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00322392"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Trummer, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322393"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1997:9101304}"	""	""	""	""	""	"0"	""	""	""	""
"00322394"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00322397"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322398"	""	""	""	"1"	""	"00085"	"{PMID:Lightfoot et al., 1994:7982948}"	""	""	""	""	""	"0"	""	""	""	""
"00322399"	""	""	""	"1"	""	"03704"	"{PMID:Cohn et al., 1990:2309707}"	"This patient is referred to as Family 27 by  {PMID21239989:Pyott et al., 2011}."	""	""	""	""	"0"	""	""	""	""
"00322400"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Trummer, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322401"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322402"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322403"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	""	""	"0"	""	""	""	""
"00322404"	""	""	""	"1"	""	"00085"	"{PMID:Cabral et al., 2007:17206620}"	""	""	""	""	""	"0"	""	""	""	""
"00322405"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00322406"	""	""	""	"1"	""	"00085"	"{PMID:Peng et al., 2012:22565191}"	"The splice-site variant is demonstrated to activate an upstream cryptic splice resulting in the loss in the mRNA of the final eight bases from exon 44. This results in a frameshift and NMD. It\'s not clear from the data, as presented, whether all of the RNA from the variant allele is mis-spliced as a deletion of eight bases."	""	""	""	""	"0"	""	""	"Chinese"	""
"00322407"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322408"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00322409"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322410"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322411"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"The variant in this patient is not predicted to markedly affect mRNA splicing so is probably not disease-causing."	""	""	""	""	"0"	""	""	""	""
"00322412"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322413"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322414"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE27"
"00322415"	""	""	""	"1"	""	"00085"	"{PMID:Zhao et al., 2014:24711029}"	"Analysis of RNA indicates that the base substitution at the start of exon 44 moves the splice site and creates a frameshift."	""	""	""	""	"0"	""	""	"Chinese"	""
"00322416"	""	""	""	"1"	""	"00085"	"{PMID:Song et al., 2014:25119913}"	"Analysis of RNA demonstrates a frameshift, rather than an amino acid substitution."	""	""	""	""	"0"	""	""	""	""
"00322417"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE08"
"00322418"	""	""	""	"1"	""	"00085"	"{PMID:Sokolov et al., 1991:1870989}, {PMID:Chan et al., 2008:18272325}, {PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322420"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322421"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Nishioka, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322422"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322423"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322424"	""	""	""	"1"	""	"00085"	"{PMID:Lund et al., 1997:9101304}"	""	""	""	""	""	"0"	""	""	""	""
"00322425"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322426"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322427"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322428"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00322429"	""	""	""	"1"	""	"00085"	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	""	""	"0"	""	""	""	""
"00322430"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322431"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_001999"
"00322432"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Egyptian"	""
"00322433"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322434"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00322435"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322436"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322437"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322438"	""	""	""	"1"	""	"00085"	"{PMID: Mohd Nawawi et al., 2019:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00322440"	""	""	""	"1"	""	"00085"	"{PMID:Mohd Nawawi et al., 2018:29807018}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Malaysian"	""
"00322441"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA101"
"00322442"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322443"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322444"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322445"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322446"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322447"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Milgrom, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322448"	""	""	""	"1"	""	"00085"	"{PMID:Mottes et al., 1992:1634225}"	""	""	""	""	""	"0"	""	""	""	""
"00322449"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322450"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	"This patient was subsequently presented as Patient 4 by {PMID24296239:Fratzl-Zelman et al.,2014}."	""	""	""	""	"0"	""	""	""	""
"00322451"	""	""	""	"1"	""	"03702"	"Lund, personal communication"	""	""	""	""	""	"0"	""	""	"white"	""
"00322452"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322453"	""	""	""	"1"	""	"00085"	"{PMID:Kanecko et al., 2011:21594610}"	"Hyperuricemia, due to a mutation in GPATCH8, co-segregates with OI in this family."	""	""	""	""	"0"	""	""	"Japanese"	""
"00322454"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322455"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322456"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322457"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322458"	""	""	""	"1"	""	"00085"	"{PMID:Moraes et al., 2012:23079818}"	"There is variable expressivity of the variant in the proband\'s family."	""	""	""	""	"0"	""	""	"Brazilian"	""
"00322459"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322460"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322461"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322462"	""	""	""	"1"	""	"03872"	"{PMID:Ju et al., 2016:27060301}"	"The paternally inherited p.(Gly1079Ser) variant is the primary determinant of the OI phenotype. The father has no fractures, but has short stature, dentinogenesis imperfecta and hearing loss. It is unclear if the other variant contributes to the phenotype but the mother has no symptoms of OI."	""	""	""	""	"0"	""	""	"Chinese Han"	""
"00322463"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322464"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322465"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322466"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE11"
"00322467"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322469"	""	""	""	"1"	""	"00085"	"{PMID:Trancozo et al., 2019:31429852}"	"A frameshift, as predicted for this variant, would be expected to result in OI type I, not type III."	""	""	""	""	"0"	""	""	"Brazilian"	""
"00322470"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The specific OI type was confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00322471"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00322472"	""	""	""	"1"	""	"00085"	"{PMID:Constantinou et al., 1989:2913053}"	""	""	""	""	""	"0"	""	""	""	""
"00322473"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322474"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322475"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322476"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322477"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE21"
"00322478"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE22"
"00322479"	""	""	""	"1"	""	"00085"	"{PMID:Xia et al., 2014:24682174}"	""	""	""	""	""	"0"	""	""	""	""
"00322480"	""	""	""	"1"	""	"00085"	"{PMID:Valli et al., 1993:7679635}"	""	""	""	""	""	"0"	""	""	""	""
"00322481"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322482"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322483"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322484"	""	""	""	"1"	""	"03704"	"{Localcohn_et_al_1990b.pdf:Cohn et al., 1990}"	""	""	""	""	""	"0"	""	""	""	""
"00322485"	""	""	""	"1"	""	"00085"	"{PMID:Malfait et al., 2007:17211858}"	""	""	""	""	""	"0"	""	""	""	""
"00322486"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322487"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322488"	""	""	""	"1"	""	"00085"	"{PMID:Marshall et al., 2016:27549894}"	"The c.3278G>A variant was present in the mother whoshowed no features of OI. Hence it is most likely benign.The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322489"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322490"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1994:7942841}"	""	""	""	""	""	"0"	""	""	""	""
"00322491"	""	""	""	"1"	""	"00085"	"{PMID:Tanner et al., 2017:28812463}"	"The technique used was the custom Gene panel"	""	""	""	""	"0"	""	""	"Turkish"	""
"00322492"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322493"	""	""	""	"1"	""	"03881"	""	""	""	""	""	""	"0"	""	""	""	""
"00322494"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322495"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00322496"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322497"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	""	""	"0"	""	""	""	""
"00322498"	""	""	""	"1"	""	"00085"	"{PMID:Nwosu et al., 2005:16272059}"	"The patient is described as also having some features of Ehlers-Danlos syndrome, Rieger\'s anomaly and other associated ocular abnormalities."	""	""	""	""	"0"	""	""	""	""
"00322499"	""	""	""	"1"	""	"00085"	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	""	""	"0"	""	""	""	""
"00322500"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00322501"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	""	""	"0"	""	""	""	""
"00322503"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322504"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322505"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322506"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322507"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322508"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00322509"	""	""	""	"1"	""	"00085"	"{PMID:Kurosaka et al., 1994:7961597}"	""	""	""	""	""	"0"	""	""	""	""
"00322510"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2017:28668235}"	"The patient is described as having some features of OI and Russell-Silver syndrome.The technique used was whole genome sequencing."	""	""	""	""	"0"	""	""	""	""
"00322511"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00322512"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322513"	""	""	""	"1"	""	"00475"	""	"de novo mutation"	""	""	""	""	"0"	""	""	"white"	""
"00322514"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322515"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1994:7942841}"	""	""	""	""	""	"0"	""	""	""	""
"00322516"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322517"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322518"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1994:7942841}"	""	""	""	""	""	"0"	""	""	""	""
"00322519"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	""	""	"0"	""	""	""	""
"00322520"	""	""	""	"1"	""	"00085"	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	""	""	"0"	""	""	""	""
"00322521"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00322522"	""	""	""	"1"	""	"00085"	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	""	""	"0"	""	""	""	""
"00322523"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	"This patient was subsequently presented as Patient 11 by {PMID24296239:Fratzl-Zelman et al.,2014}."	""	""	""	""	"0"	""	""	""	""
"00322524"	""	""	""	"1"	""	"03855"	"{PMID:Balasubramanian et al., 2015:25436829}"	"This is patient 2 as presented by {PMID25436829:Balasubramanian et al., 2015}.The patient was subsequently presented again as Patient 2 by {PMID26863094:Balasubramanian et al., 2016}."	""	""	""	""	"0"	""	""	""	""
"00322525"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322526"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322527"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00322528"	""	""	""	"1"	""	"03704"	"{Localwallis_et_al_1990a.pdf:Wallis et al., 1990}"	"The precise details of the mutation are not given in the abstract, but were provided by Peter Byers as a personal communication."	""	""	""	""	"0"	""	""	""	""
"00322529"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	"Skips exon 47."	""	""	""	""	"0"	""	""	""	""
"00322530"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322531"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322532"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322533"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	"Skips exon 48 (minor)."	""	""	""	""	"0"	""	""	""	""
"00322534"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322535"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	"Skips exon 48."	""	""	""	""	"0"	""	""	""	""
"00322537"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322538"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322539"	""	""	""	"1"	""	"03704"	"{Localwallis_et_al_1989.pdf:Wallis et al., 1989}"	""	""	""	""	""	"0"	""	""	""	""
"00322540"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322541"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322542"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322543"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322544"	""	""	""	"1"	""	"00085"	"{Localgomez-lira_et_al_1993.pdf:Gomez-Lira et al., 1993}"	""	""	""	""	""	"0"	""	""	""	""
"00322545"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00322546"	""	""	""	"1"	""	"00085"	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	""	""	"0"	""	""	""	""
"00322547"	""	""	""	"1"	""	"00085"	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	""	""	"0"	""	""	""	""
"00322548"	""	""	""	"1"	""	"00085"	"{PMID:Zhuang et al., 1996:8829649} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322549"	""	""	""	"1"	""	"00085"	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	""	""	"0"	""	""	""	""
"00322550"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2006:16638323}"	""	""	""	""	""	"0"	""	""	""	""
"00322551"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322552"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The patient\'s frameshift is incorrectly described in the paper but the corrected details have been confirmed with the authors, as has the specific OI type."	""	""	""	""	"0"	""	""	""	""
"00322553"	""	""	""	"1"	""	"00085"	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	""	""	"0"	""	""	""	""
"00322554"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA95"
"00322555"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322556"	""	""	""	"1"	""	"00085"	"{PMID:Wang et al., 2009:19491628}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322557"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322558"	""	""	""	"1"	""	"03704"	"{PMID:Cohn et al., 1986:3016737}"	""	""	""	""	""	"0"	""	""	""	""
"00322559"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322560"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322561"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322562"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322563"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322564"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322565"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322566"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322567"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"Arabic"	""
"00322568"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00322569"	""	""	""	"1"	""	"00085"	"{PMID:Sule et al., 2013:23443412}"	""	""	""	""	""	"0"	""	""	""	""
"00322571"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322572"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322573"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322574"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322575"	""	""	""	"1"	""	"00085"	"{PMID:Caparros-Martin et al., 2016:28116328}"	"The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Spanish"	""
"00322576"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322577"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322578"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322579"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322580"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322581"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322582"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322583"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322584"	""	""	""	"1"	""	"00085"	"{PMID:Mottes et al., 1998:10627137}"	""	""	""	""	""	"0"	""	""	""	""
"00322585"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	"This variant should be considered cautiously as alanine in not universally conserved at position 1174. Rat and mouse have serine at this position and frog has valine."	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322586"	""	""	""	"1"	""	"00085"	"{PMID:Shi et al., 2015:25674388}"	"The variant co-segregates with the disease phenotype in six affected individuals in the family and is not found in any unaffected individuals."	""	""	""	""	"0"	""	""	"Chinese"	""
"00322587"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322588"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322589"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322590"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322591"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322592"	""	""	""	"1"	""	"00085"	"Pavón de Paz et al., 2016, Rev Osteoporos Metab Miner, 8, 36-39."	"Both the father and daughter in this family harbour the sequence variant."	""	""	""	""	"0"	""	""	""	""
"00322593"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322594"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00322595"	""	""	""	"1"	""	"01819"	""	""	""	""	""	""	"0"	""	""	""	""
"00322596"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_001998"
"00322597"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322598"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322599"	""	""	""	"1"	""	"00085"	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322600"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322601"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322602"	""	""	""	"1"	""	"00085"	"{PMID:Lee et al., 2006:16705691}"	""	""	""	""	""	"0"	""	""	""	""
"00322603"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322604"	""	""	""	"1"	""	"00085"	"{PMID:Kaliaperumal et al., 2011:22674700}"	"The patient presented initially as aneurysmal subarachnoid haemorrhage.The variant details were provided by the authors."	""	""	""	""	"0"	""	""	""	""
"00322605"	""	""	""	"1"	""	"00085"	"{PMID:Donkervoort et al., 2013:24070816}"	"The patient also has Duchenne muscular dystrophy"	""	""	""	""	"0"	""	""	""	""
"00322606"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322607"	""	""	""	"1"	""	"00085"	"{PMID:Matouk et al., 2011:22005702}"	"The OI-causing variant is not reported in the published account of the patient, but was supplied by the authors."	""	""	""	""	"0"	""	""	""	""
"00322609"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322610"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322611"	""	""	""	"1"	""	"03862"	""	""	""	""	""	""	"0"	""	""	"Yakut"	""
"00322612"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322613"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322614"	""	""	""	"1"	""	"03704"	"{PMID:Pruchno et al., 1991:2037280}"	""	""	""	""	""	"0"	""	""	""	""
"00322615"	""	""	""	"1"	""	"03704"	"{PMID:Pruchno et al., 1991:2037280}"	"This patient was previously described as patient 46 (not 47) by {PMID3341380:Byers et al., 1988}."	""	""	""	""	"0"	""	""	""	""
"00322616"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322617"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322618"	""	""	""	"1"	""	"00085"	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	""	""	"0"	""	""	""	""
"00322619"	""	""	""	"1"	""	"03704"	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	""	""	"0"	""	""	""	""
"00322620"	""	""	""	"1"	""	"00085"	"Cohen et al., 1996 {Localcohen_et_al_1996b.pdf:View abstract}"	""	""	""	""	""	"0"	""	""	""	""
"00322621"	""	""	""	"1"	""	"00085"	"{PMID:Wu et al., 2014:25289482}"	""	""	""	""	""	"0"	""	""	""	""
"00322622"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322623"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322625"	""	""	""	"1"	""	"03704"	"{PMID:Pace et al., 2001:11668615}"	""	""	""	""	""	"0"	""	""	""	""
"00322626"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322627"	""	""	""	"1"	""	"03704"	"{Localcohn_et_al_1990b.pdf:Cohn et al., 1990}"	""	""	""	""	""	"0"	""	""	""	""
"00322628"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322629"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_002000"
"00322630"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005806"
"00322631"	""	""	""	"1"	""	"00085"	"{PMID:Vandersteen et al., 2013:24311407}"	""	""	""	""	""	"0"	""	""	""	""
"00322632"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322633"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322634"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322635"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322636"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00322637"	""	""	""	"1"	""	"03704"	"{PMID:Labhard et al., 1988:3244312} {PMID:Cohn et al., 1988:3170557}"	"The two references relate to the same patient."	""	""	""	""	"0"	""	""	""	""
"00322638"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00322639"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1994:7942841}"	""	""	""	""	""	"0"	""	""	""	""
"00322640"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322641"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322642"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322643"	""	""	""	"1"	""	"00085"	"{PMID:Pavón de Paz et al., 2016:27178384}"	"The sequence variant in this family is found in both the father and his daughter."	""	""	""	""	"0"	""	""	""	""
"00322644"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322646"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322647"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322648"	""	""	""	"1"	""	"00475"	""	"de novo mutation"	""	""	""	""	"0"	""	""	"white"	""
"00322649"	""	""	""	"1"	""	"00085"	"{ECTS2008:0034:Cundy et al., 2008}"	"This mutation is found in a brother and sister who inherited it from their father. The disorder is described as being characterised by high bone mass, a mineralization defect and tendon calcification."	""	""	""	""	"0"	""	""	""	""
"00322650"	""	""	""	"1"	""	"00085"	"{PMID:McInerney-Leo et al., 2015:24891183}"	"The variant is present in a mother and son with GDD. The variant is incorrectly reported as c.G3652A.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"Turkish"	""
"00322651"	""	""	""	"1"	""	"03884"	"{PMID:Le Quesne Stabej et al., 2017:28173822}"	"The variant has been transmitted to two affected children (osteogenesis imperfecta with increased BMD) in an autosomal dominant manner from unaffected gonosomal mosaic father.The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	""	""
"00322652"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA39"
"00322653"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	"Both the DNA and protein changes reported for this patient in Ries-Levavi et al. 2004 and in the subsequent Erratum are incorrect."	""	""	""	""	"0"	""	""	""	""
"00322654"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322655"	""	""	""	"1"	""	"00085"	"{PMID:Lindahl et al., 2011:21344539}"	"The patient is described as having mild OI. Wrist and spine BMD were elevated but there was no radiographic evidence for generalised signs of dense bone."	""	""	""	""	"0"	""	""	"Swedish"	""
"00322657"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA21"
"00322658"	""	""	""	"1"	""	"00085"	"{PMID:Lampart et al., 2018:30567240}"	""	""	""	""	""	"0"	""	""	""	""
"00322659"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322660"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322661"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322662"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322663"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	"The proband\'s OI diagnosed brother also harbours the same mutation."	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005805"
"00322664"	""	""	""	"1"	""	"00085"	"{dbSNP3205325}"	""	""	""	""	""	"0"	""	""	""	""
"00322665"	""	""	""	"1"	""	"00085"	"{PMID:Rolvien et al., 2018:29946973}"	"The DNA-level variant data and OI phenotype were provided by Dr Tim Rolvien."	""	""	""	""	"0"	""	""	""	""
"00322666"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA72"
"00322667"	""	""	""	"1"	""	"00085"	"{PMID:Zhang et al., 2011:21667357}"	"The variant identified in this patient is probably not pathogenic as it is observed in healthy Chinese individuals."	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322668"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	"The reported variant may not be the cause of the OI I phenotype. This variant has been observed in healthy Han Chinese individuals."	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00322669"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322670"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1996:8808594}"	""	""	""	""	""	"0"	""	""	""	""
"00322671"	""	""	""	"1"	""	"03855"	""	"Complete sequencing and MLPA of COL1A1 and COL1A2, no other changes detected."	""	""	""	""	"0"	""	""	""	""
"00322672"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322673"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322674"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2004:15235039}"	"The single-base change results in an amino acid substitution and the creation of a splice site that results in a shortened mRNA with a frameshift."	""	""	""	""	"0"	""	""	""	""
"00322675"	""	""	""	"1"	""	"03879"	""	"Neither of the patient\'s healthy parents harbour the c.3790A>G variant. This patient has OI type I with joint hyper-laxity and markedly blue sclerae.No RNA analysis was performed for this patient."	""	""	""	""	"0"	""	""	"Swedish"	""
"00322676"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00322677"	""	""	""	"1"	""	"00475"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322678"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322679"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322680"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA73"
"00322681"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322682"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA41"
"00322683"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322684"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322685"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322686"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322687"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322688"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322689"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322690"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322692"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322693"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	""	""
"00322694"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322695"	""	""	""	"1"	""	"03863"	""	""	""	""	""	""	"0"	""	""	""	""
"00322696"	""	""	""	"1"	""	"00085"	"{PMID:Chessler et al., 1993:8349697}"	"Detailed analysis of this patient\'s collagen chain synthesis is described by {PMID8349698:Chessler and Byers, 1993}."	""	""	""	""	"0"	""	""	""	""
"00322697"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	""	""	"0"	""	""	""	""
"00322698"	""	""	""	"1"	""	"03865"	"{PMID:Lu et al., 2013:24147872}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322699"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322700"	""	""	""	"1"	""	"03863"	""	""	""	""	""	""	"0"	""	""	""	""
"00322701"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322702"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322703"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322704"	""	""	""	"1"	""	"00085"	"{PMID:Wu et al., 2014:25289482}"	""	""	""	""	""	"0"	""	""	""	""
"00322706"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322707"	""	""	""	"1"	""	"03865"	"{PMID:Lu et al., 2013:24147872}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322708"	""	""	""	"1"	""	"03863"	""	""	""	""	""	""	"0"	""	""	""	""
"00322710"	""	""	""	"1"	""	"00085"	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	""	""	"0"	""	""	""	""
"00322711"	""	""	""	"1"	""	"03865"	"{PMID:Lu et al., 2013:24147872}"	"This patient was first described as having type I OI at the time of submission. However, the published account describes the patient as having type IV OI."	""	""	""	""	"0"	""	""	"Chinese"	""
"00322712"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322713"	""	""	""	"1"	""	"03704"	"{PMID:Pace et al., 2001:11432962}"	"The patient is described as having mild OI which is interpreted to mean OI I.The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	""	""
"00322714"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322715"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322716"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322717"	""	""	""	"1"	""	"00085"	"{PMID:Swinnen et al., 2009:19358256}"	"The specific OI type was confirmed by the authors."	""	""	""	""	"0"	""	""	""	""
"00322718"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322719"	""	""	""	"1"	""	"03870"	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	""	""	"0"	""	""	""	""
"00322720"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322721"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322722"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322723"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	""	""
"00322724"	""	""	""	"1"	""	"00085"	"{PMID:Lamande et al., 1995:7721766}"	"A pair of iPSC lines were later established for this patient {PMID31082677:Howden et al., 2019}. There is a cell line derived directly from the patient and an isogenic line in which the variant has been corrected."	""	""	""	""	"0"	""	""	""	""
"00322725"	""	""	""	"1"	""	"03704"	"{PMID:Ries-Levavi et al., 2004:15024745}"	"Patients 51 & 64 are from the same family."	""	""	""	""	"0"	""	""	""	""
"00322726"	""	""	""	"1"	""	"00085"	"{PMID:Bateman et al., 1989:2500431}"	""	""	""	""	""	"0"	""	""	""	""
"00322727"	""	""	""	"1"	""	"00085"	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	""	""	"0"	""	""	""	""
"00322728"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322729"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322730"	""	""	""	"1"	""	"03861"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00322731"	""	""	""	"1"	""	"03862"	""	""	""	""	""	""	"0"	""	""	"Russian"	""
"00322732"	""	""	""	"1"	""	"00085"	"{PMID:Mackenroth et al., 2016:26799614}"	"The COL1A1 splice-site variant leads to retention of intron 50 which contains a premature stop codon.The patient also harbours two TNXB variants:c.3637G>A p.(Val1213Val) & c.7774G>A p.(Gly2592Ser).The technique used was whole exome sequencing."	""	""	""	""	"0"	""	""	"German"	""
"00322733"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	"The technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322734"	""	""	""	"1"	""	"00085"	"{PMID:Chessler et al., 1993:8349697}"	"Detailed analysis of this patient\'s collagen chain synthesis is described by {PMID8349698:Chessler and Byers, 1993}."	""	""	""	""	"0"	""	""	""	""
"00322735"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322736"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322737"	""	""	""	"1"	""	"03853"	""	"The reported variant is relatively common in some populations ({ExAC17-48263369-C-T}) and may not be the cause of OI in this patient."	""	""	""	""	"0"	""	""	"white"	""
"00322738"	""	""	""	"1"	""	"00085"	"{PMID:Lindert et al., 2016:27380894}"	"The reported variant is relatively common in some populations ({ExAC17-48263369-C-T}) and may not be related to the cause of OI in this patient."	""	""	""	""	"0"	""	""	"German"	""
"00322739"	""	""	""	"1"	""	"03865"	"{PMID:Lu et al., 2013:24147872}"	""	""	""	""	""	"0"	""	""	"Chinese"	""
"00322740"	""	""	""	"1"	""	"00085"	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	""	""	"0"	""	""	"Czech"	""
"00322741"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322742"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	"The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	""	""
"00322743"	""	""	""	"1"	""	"03855"	""	""	""	""	""	""	"0"	""	""	""	""
"00322744"	""	""	""	"1"	""	"03853"	""	""	""	""	""	""	"0"	""	""	"Arabic"	""
"00322745"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322747"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322748"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322749"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00322750"	""	""	""	"1"	""	"00085"	"{dbSNP3205509}"	""	""	""	""	""	"0"	""	""	""	""
"00322751"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	"The affected brother does not carry the variant, so this variant probably not causal, but a possible disease modifying effect cannot be excluded."	""	""	""	""	"0"	""	""	""	""
"00322752"	""	""	""	"1"	""	"00085"	"{PMID:Takagi et al., 2011:21834035}"	"There are two sibs who have this variant. One died at age 4 months and the other survives at the age of 10 years which is rather old for surviving OI II. The father has been shown to be a somatic mosaic for the variant."	""	""	""	""	"0"	""	""	"Japanese"	""
"00322753"	""	""	""	"1"	""	"00085"	"{PMID:Chessler et al., 1993:8349697}"	"Detailed analysis of this patient\'s collagen chain synthesis is described by {PMID8349698:Chessler and Byers, 1993}."	""	""	""	""	"0"	""	""	""	""
"00322755"	""	""	""	"1"	""	"00085"	"{dbSNP2586486}"	""	""	""	""	""	"0"	""	""	""	""
"00322756"	""	""	""	"1"	""	"00085"	"{PMID:Zhuang et al., 1996:8829649} {PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00322757"	""	""	""	"1"	""	"03855"	""	"Unaffected mother also has the same variant."	""	""	""	""	"0"	""	""	""	""
"00322758"	""	""	""	"1"	""	"01819"	"{PMID:Malfait et al., 2013:23692737}"	"The patient has a causal COL1A2 splice site mutation (skips exon 14).The COL1A1 variant (Asn to Ser) is not expected to have serious consequences; probably mild phenotype."	""	""	""	""	"0"	""	""	""	""
"00322759"	""	""	""	"1"	""	"00085"	"{PMID:Huang et al., 2016:27577215}"	"The father of the four affected individuals harbours the same sequence variant but has a normal phenotype.The account of this variant is published in Chinese."	""	""	""	""	"0"	""	""	"Han Chinese"	""
"00322760"	""	""	""	"1"	""	"00085"	"{PMID:Stephen et al., 2014:24668929}"	"The variant is in exon 51, not 50 as reported."	""	""	""	""	"0"	""	""	""	""
"00322761"	""	""	""	"1"	""	"00085"	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	""	""	"0"	""	""	""	""
"00322762"	""	""	""	"1"	""	"00085"	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	""	""	"0"	""	""	""	""
"00322763"	""	""	""	"1"	""	"03704"	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	""	""	"0"	""	""	""	""
"00322764"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification."	""	""	""	""	"0"	""	""	""	""
"00322765"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	"There was one previously affected infant in this family with lethal OI in which prenatal diagnosis was done by mutation identification."	""	""	""	""	"0"	""	""	""	""
"00322766"	""	""	""	"1"	""	"03865"	""	""	""	""	""	""	"0"	""	""	""	""
"00322767"	""	""	""	"1"	""	"01819"	"{PMID:Essawi 2018:29150909}"	""	""	""	"Palestine"	""	"0"	""	""	"Palestinian"	"AN_005802"
"00322768"	""	""	""	"1"	""	"03863"	""	""	""	""	""	""	"0"	""	""	""	""
"00322769"	""	""	""	"1"	""	"03704"	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	""	""	"0"	""	""	""	""
"00322770"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Patient\'s father has the same alteration (c.4239T>A; p.(Asp1413Glu)) in DNA extracted from leukocytes although he does not have an obvious phenotype. Mosaicism? Very mild phenotype in father? This is a conserved aspartic acid in fibrillar collagen and previous reports for this position (but different amino acid substitution) have been pathogenic."	""	""	""	""	"0"	""	""	"Swedish"	""
"00322771"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322772"	""	""	""	"1"	""	"03863"	""	""	""	""	""	""	"0"	""	""	""	""
"00322773"	""	""	""	"1"	""	"00085"	"{PMID:Takagi et al., 2011:21834035}"	"The protein-level variant description is incorrectly reported.The frameshift produced by this deletion results in a PTC in the final exon of the gene and so does not trigger nonsense-mediated decay (NMD) of the mRNA."	""	""	""	""	"0"	""	""	"Japanese"	""
"00322775"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322776"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322777"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322778"	""	""	""	"1"	""	"00085"	"{dbSNP41316725}"	""	""	""	""	""	"0"	""	""	""	""
"00322779"	""	""	""	"1"	""	"00085"	"{dbSNP1059454}"	""	""	""	""	""	"0"	""	""	""	""
"00322780"	""	""	""	"1"	""	"00085"	"{dbSNP1059475}"	""	""	""	""	""	"0"	""	""	""	""
"00322781"	""	""	""	"1"	""	"03890"	""	"OI severe type. De novo mutationThe technique used was the custom NGS Gene panel."	""	""	""	""	"0"	""	""	""	""
"00322782"	""	""	""	"1"	""	"00085"	"{PMID:Chan et al., 2008:18272325}"	""	""	""	""	""	"0"	""	""	""	""
"00322783"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322784"	""	""	""	"1"	""	"00085"	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	""	""	"0"	""	""	""	""
"00322785"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322786"	""	""	""	"1"	""	"00085"	"{PMID:Fuccio et al., 2011:21884818}"	"Although the OI type is not recorded in the publication, the authors have provided this information subsequently."	""	""	""	""	"0"	""	""	""	""
"00322787"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322788"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	"Grey sclerae, no DI."	""	""	""	""	"0"	""	""	""	""
"00322789"	""	""	""	"1"	""	"00085"	"{PMID:Chen et al., 2013:23548228}"	"The variant was detected in a prenatal diagnostic test and the pregnancy was terminated. An older child also has type III OI and the father\'s sperm was shown to be mosaic for the variant.The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	""	""
"00322790"	""	""	""	"1"	""	"00085"	"{PMID:Lin et al., 2015:26627451}"	""	""	""	""	""	"0"	""	""	"Taiwanese"	""
"00322791"	""	""	""	"1"	""	"00085"	"{PMID:Rugolotto et al., 2007:18001342}"	"The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	""	""
"00322792"	""	""	""	"1"	""	"00085"	"{dbSNP17857117}"	""	""	""	""	""	"0"	""	""	""	""
"00322793"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322794"	""	""	""	"1"	""	"00085"	"{PMID:Ke et al., 2009:19199251}"	"The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	"Chinese"	""
"00322795"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322796"	""	""	""	"1"	""	"00085"	"{PMID:Pace et al., 2002:11826020}"	"The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	""	""
"00322797"	""	""	""	"1"	""	"00085"	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	""	""	"0"	""	""	""	""
"00322799"	""	""	""	"1"	""	"00085"	"{PMID:Roschger et al., 2008:18311573}"	"The authors\' variant description for Patient 13 is incorrect. The corrected variant description has been confirmed with the authors."	""	""	""	""	"0"	""	""	""	""
"00322800"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322801"	""	""	""	"1"	""	"03863"	""	""	""	""	""	""	"0"	""	""	""	""
"00322802"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	""	""	"0"	""	""	""	""
"00322803"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322804"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322805"	""	""	""	"1"	""	"03870"	""	""	""	""	""	""	"0"	""	""	""	""
"00322806"	""	""	""	"1"	""	"00085"	"{PMID:Benusiene and Kucinskas, 2003:12590186}"	""	""	""	""	""	"0"	""	""	"Lithuanian"	""
"00322807"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322808"	""	""	""	"1"	""	"03855"	""	"There are three affected family members who each harbour this variant."	""	""	""	""	"0"	""	""	""	""
"00322809"	""	""	""	"1"	""	"03867"	""	"Thermal stability of collagen (by circular dichroism) is decreased by 2°C."	""	""	""	""	"0"	""	""	"European"	""
"00322810"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00322811"	""	""	""	"1"	""	"03897"	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Ukraine"	""	"0"	""	""	""	"UA71"
"00322812"	""	""	""	"1"	""	"03704"	"{PMID:Willing et al., 1990:2295701}"	"The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	""	""
"00322813"	""	""	""	"1"	""	"01819"	"{PMID:Symoens et al., 2014:25146735}"	"Since the mother also harbours the variant without having the Caffey-like phenotype, it can be deduced that this variant alone does not cause the phenotype."	""	""	""	""	"0"	""	""	""	""
"00322815"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322816"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322817"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00322818"	""	""	""	"1"	""	"03885"	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	""	""	"0"	""	""	""	""
"00322819"	""	""	""	"1"	""	"03879"	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	""	""	"0"	""	""	"Swedish"	""
"00322820"	""	""	""	"1"	""	"03871"	""	""	""	""	""	""	"0"	""	""	""	""
"00322821"	""	""	""	"1"	""	"00085"	"{PMID:Oliver et al., 1996:8723681}"	"In addition to the de novo pathogenic c.4391T>C variant in COL1A1, the patient also harbours the inherited variant c.3442A>C (p.Thr1148Pro) in the COL1A2 gene. It is not clear if that variant modifies the patient\'s phenotype.The Patient ID was assigned by the database curator and is not used as an identifier in the published account."	""	""	""	""	"0"	""	""	"British"	""
"00322822"	""	""	""	"1"	""	"00085"	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	""	""	"0"	""	""	"Vietnamese"	""
"00323315"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00323796"	""	""	""	"1"	""	"03894"	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"China"	""	"0"	""	""	""	""
"00327417"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B1"
"00327418"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B2"
"00327419"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B3"
"00327420"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B4"
"00327421"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B5"
"00327422"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B6"
"00327423"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B7"
"00327424"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B8"
"00327425"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B9"
"00327426"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B10"
"00327427"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B11"
"00327428"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B12"
"00327429"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B13"
"00327430"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B14"
"00327431"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B15"
"00327432"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B16"
"00327433"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B17"
"00327434"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B18"
"00327435"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B19"
"00327436"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B20"
"00327437"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B21"
"00327438"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"F"	""	"Turkey"	""	"0"	""	""	""	"B22"
"00327455"	""	""	""	"1"	""	"00006"	"{PMID:Demir 2021:33470886}"	"analysis 43 OI patients"	"M"	""	"Turkey"	""	"0"	""	""	""	"B40"
"00331367"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"no"	""	""	"0"	""	""	"Arab"	"10DG0944"
"00331368"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"M"	"no"	""	""	"0"	""	""	"Arab"	"11DG0155"
"00331369"	""	""	""	"2"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family, 2 affected (F, M)"	"F;M"	""	""	""	"0"	""	""	"Arab"	"10DG2048 , 10DG2049"
"00331370"	""	""	""	"2"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family, 2 affected (F, M)"	"F;M"	"no"	""	""	"0"	""	""	"Arab"	"10DG2173 , 10DG2174"
"00331371"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"17DG0786"
"00359359"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359360"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359361"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359362"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359386"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359387"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359388"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359389"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359390"	""	""	""	"1"	""	"01396"	""	""	""	""	"Brazil"	""	""	""	""	""	""
"00359654"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2021:33777089}"	"fetus, 2 previous pregnancies with similar anomalies"	""	""	"China"	""	"0"	""	""	""	"Pat12"
"00359655"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2021:33777089}"	"fetus"	""	""	"China"	""	"0"	""	""	""	"Pat13"
"00363761"	""	""	""	"1"	""	"04060"	""	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00374127"	""	""	""	"1"	""	"00006"	"{PMID:Lefebvre 2021:32732226}"	"fetus"	"F"	""	"France"	""	"0"	""	""	""	""
"00377137"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	"Germany"	""	"0"	""	""	""	"181226"
"00385919"	""	""	""	"1"	""	"00006"	"{PMID:Prasad 2016:26502894}"	""	"M"	""	""	""	"0"	""	""	""	"V2.58"
"00388259"	""	""	""	"4"	""	"00085"	"{PMID:Datta et al., 2021:33796912} {DOI:Datta et al., 2021:10.1007/s00198-021-05933-3}"	"The daughter of the index case also harbours the same COL1A1 sequence variant. The mother and elder brother of the index case both have osteoporosis,"	"F"	""	""	""	"0"	""	""	"white"	"II:1"
"00393431"	""	""	""	"1"	""	"01164"	""	""	"F"	"no"	""	""	"0"	""	""	""	"189727"
"00397354"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV1"
"00397356"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV3"
"00397357"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV4"
"00397358"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV5"
"00397359"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV7"
"00397360"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV8"
"00397361"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV9"
"00397362"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV10"
"00397365"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV13"
"00397369"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV17"
"00397370"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV18"
"00397371"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV19"
"00397374"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV22"
"00397376"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV24"
"00397378"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2014:25086671}"	""	""	""	"Canada"	""	"0"	""	""	""	"PatV26"
"00399289"	""	""	""	"1"	""	"00006"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE05"
"00399290"	""	""	""	"1"	""	"00006"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE07"
"00399292"	""	""	""	"1"	""	"00006"	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Estonia"	""	"0"	""	""	""	"EE31"
"00409134"	""	""	""	"1"	""	"03897"	"{PMID:Li et al., 2019:30614853}"	""	"?"	"?"	"China"	"?"	"0"	"{DB:Uveo[1]}"	""	""	"30614853-1"
"00411521"	""	""	""	"1"	""	"00085"	"{PMID:Lessel et al., 2018:30450527}"	"This individual has Wiedemann–Rautenstrauch progeroid syndrome rather than the expected osteogenesis type II phenotype. \r\n\r\nThe authors speculate that the individual might harbour an additional unidentified variant or that he is mosaic for the identified COL1A1 variant."	"M"	"no"	"Germany"	""	"0"	""	""	""	"Individual 3"
"00413444"	""	""	""	"1"	""	"00006"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	""	""	"0"	""	""	""	""
"00413445"	""	""	""	"1"	""	"00006"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	""	""	"0"	""	""	""	""
"00413446"	""	""	""	"1"	""	"00006"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	""	""	"0"	""	""	""	""
"00413447"	""	""	""	"1"	""	"00006"	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	""	""	"0"	""	""	""	""
"00416394"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat2"
"00416395"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	"?"	""	"China"	""	"0"	""	""	""	"Pat3"
"00416396"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat4"
"00416397"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat5"
"00416398"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat6"
"00416399"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat7"
"00416400"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat8"
"00416401"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat9"
"00416402"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat10"
"00416403"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat11"
"00416404"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat12"
"00416405"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat14"
"00416406"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat16"
"00416407"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat18"
"00416408"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat19"
"00416409"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat20"
"00416410"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat21"
"00416411"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat22"
"00416412"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat23"
"00416413"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat24"
"00416414"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat25"
"00416415"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat26"
"00416416"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat28"
"00416417"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat29"
"00416418"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat30"
"00416419"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat32"
"00416420"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat33"
"00416421"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat34"
"00416422"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat35"
"00416423"	""	""	""	"1"	""	"04298"	"{PMID:Li 2019:30614853}"	""	""	""	"China"	""	"0"	""	""	""	"Pat38"
"00416424"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat1"
"00416425"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat2"
"00416426"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat3"
"00416427"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat4"
"00416428"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat5"
"00416429"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat6"
"00416430"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat7"
"00416431"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat8"
"00416432"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat9"
"00416433"	""	""	""	"1"	""	"04298"	"{PMID:Ohata 2019:31363794}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat10"
"00417019"	""	""	""	"1"	""	"02544"	"{PMID:Morlino 2020:31794058}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417020"	""	""	""	"1"	""	"02544"	"{PMID:Morlino 2020:31794058}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417028"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417033"	""	""	""	"1"	""	"02544"	"{PMID:Morlino 2020:31794058}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417062"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417071"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417081"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417088"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417090"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417091"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417093"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417096"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417097"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417099"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417101"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417113"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417114"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417125"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417131"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417134"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417137"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417139"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417143"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417146"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417153"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417154"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417157"	""	""	""	"1"	""	"02544"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00417578"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	"0"	""	""	""	""
"00418529"	""	""	"00418528"	"1"	""	"00006"	"{PMID:Pagnamenta 2022:34782440}"	"brother"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"Fam1PatIV6"
"00419496"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"8027"
"00419497"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"8114"
"00419498"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"F"	""	"Greece"	""	"0"	""	""	""	"9133"
"00419610"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"F"	""	"Greece"	""	"0"	""	""	""	"20098"
"00427822"	""	""	""	"1"	""	"03145"	""	""	""	""	""	""	"0"	""	""	""	""
"00427873"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-01"
"00427874"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-01"
"00427875"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-02"
"00427876"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-02"
"00427877"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-03"
"00427878"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-04"
"00427879"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-03"
"00427880"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-04"
"00427881"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-05"
"00427882"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-05"
"00427883"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-06"
"00427884"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-06"
"00427885"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-07"
"00427886"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-07"
"00427887"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-08"
"00427888"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-08"
"00427889"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-09"
"00427890"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-10"
"00427891"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-11"
"00427892"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-12"
"00427893"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-13"
"00427894"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-09"
"00427895"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-14"
"00427896"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-10"
"00427897"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-15"
"00427898"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-16"
"00427899"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-11"
"00427900"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-17"
"00427901"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-18"
"00427902"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-19"
"00427903"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-20"
"00427904"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-21"
"00427905"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-22"
"00427906"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-12"
"00427907"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-23"
"00427908"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-13"
"00427909"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-14"
"00427910"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-15"
"00427911"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-16"
"00427912"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-17"
"00427913"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-24"
"00427914"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-18"
"00427915"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-19"
"00427916"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-20"
"00427917"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-21"
"00427918"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-25"
"00427919"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"France"	""	"0"	""	""	""	"FR2022-26"
"00427920"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"France"	""	"0"	""	""	""	"FR2022-27"
"00427921"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"BR2022-22"
"00427922"	""	""	""	"1"	""	"03820"	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"BR2022-23"
"00428049"	""	""	""	"1"	""	"04419"	"{PMID:Lu et al., 2018:29552444}"	""	"M"	"no"	"China"	""	""	""	""	""	"1"
"00430290"	""	""	""	"3"	""	"04419"	"{PMID:Almatrafi et al., 2020:33693443}"	"A five generation consanguineous family with suspected symptoms of cEDS. Homozygous variant detected in affected individuals. Unaffected individuals were either heterozygous or wild type."	"-"	"yes"	"Saudi Arabia"	""	""	""	""	""	"IV-1, IV-2, V-1"
"00431151"	""	""	""	"1"	""	"04305"	"{PMID:Morabito et al., 2022:35456387}"	""	"F"	"no"	"Italy"	""	""	""	""	"Caucasian"	"1"
"00431152"	""	""	""	"1"	""	"04305"	"{PMID:Junkiert-Czarnecka et al., 2022:35723357}"	"Father carrier of c.2451T>C with mild clinical symptoms."	"?"	"?"	"Poland"	""	""	""	""	""	"22"
"00431153"	""	""	""	"1"	""	"04305"	"{PMID:Junkiert-Czarnecka et al., 2022:35723357}"	""	"F"	"no"	"Poland"	""	""	""	""	""	"23"
"00431154"	""	""	""	"1"	""	"04305"	"{PMID:Junkiert-Czarnecka et al., 2022:35723357}"	""	"?"	"?"	"Poland"	""	""	""	""	""	"24"
"00431346"	""	""	""	"1"	""	"04465"	"{PMID:Li 2020:31898422}"	""	"?"	""	"China"	""	"0"	""	""	""	"Pat1"
"00431347"	""	""	""	"1"	""	"04465"	"{PMID:Li 2020:31898422}"	""	"?"	"?"	"China"	">00y00m"	"0"	""	""	""	"Pat2"
"00431387"	""	""	""	"4"	""	"04465"	"{PMID:Han 2020:32588564}"	""	"M"	""	"China"	">30y"	""	""	""	""	"patient"
"00431418"	""	""	""	"1"	""	"04465"	"{PMID:Gug 2020:32165296}"	""	"M"	"?"	""	""	""	""	""	""	"patient"
"00431537"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"M"	"?"	""	">07y"	""	""	""	""	"OI NB6"
"00431538"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"F"	"?"	""	">02y"	""	""	""	""	"OI NB8"
"00431539"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"M"	"?"	""	">10y"	""	""	""	""	"OI NB9"
"00431541"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"F"	"?"	""	">07y"	""	""	""	""	"OI B2"
"00431545"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"M"	"?"	""	">03y"	""	""	""	""	"OI B3"
"00431546"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"M"	"?"	""	">07y"	""	""	""	""	"OI B4"
"00431547"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"F"	"?"	""	">04y"	""	""	""	""	"OI B7"
"00431548"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"M"	"?"	""	">11y"	""	""	""	""	"OI B9"
"00431551"	""	""	""	"2"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"F"	"?"	""	">06y"	""	""	""	""	"OI NB3"
"00431552"	""	""	"00431551"	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"M"	"?"	""	">01y"	""	""	""	""	"OI NB4"
"00431776"	""	""	""	"1"	""	"04465"	"{PMID:Duangchan 2021:34015290}"	""	"M"	"?"	"Thailand"	">18y"	""	""	""	""	"Pat1"
"00431785"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0142"
"00431809"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0169"
"00431810"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0170"
"00431811"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0171"
"00431813"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0173"
"00431814"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0174"
"00431815"	""	""	""	"1"	""	"04136"	"Leone 2023, submitted"	""	""	""	"Italy"	""	"0"	""	""	""	"P-0175"
"00431836"	""	""	""	"1"	""	"04465"	"{PMID:Sałacińska 2022:35748117}"	"Severe OI"	"F"	"no"	""	">15y"	""	""	""	"Caucasian"	"Pat1"
"00432069"	""	""	""	"1"	""	"04465"	"{PMID:Leguiller 2021:33475155}"	""	"M"	"?"	""	">09y"	""	""	""	""	"OI NB5"
"00432210"	""	""	""	"1"	""	"04465"	"{PMID:Yang 2022:36140746}"	""	"?"	"no"	""	"00y00m"	""	""	""	""	"Pat1"
"00432211"	""	""	""	"1"	""	"04465"	"{PMID:Yang 2022:36140746}"	""	"?"	"no"	""	"00y00m"	""	""	""	""	"Pat2"
"00432217"	""	""	""	"4"	""	"04465"	"{PMID:Niu 2022:35855543}"	"4-generation family, 4 affected (3F, M)"	"F"	"?"	"China"	">33y"	"0"	""	""	""	"FamPatIII2"
"00432218"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina et al., 2022:35052464}"	""	"F"	"?"	"Russia"	">68y"	"0"	""	""	""	"Pat1"
"00432219"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">54y"	""	""	""	""	"Pat2"
"00432220"	""	""	""	"2"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	"2-generation family, 2 affected, son and mother (Pat6)"	"M"	"?"	"Russia"	">26y"	"0"	""	""	"Tatar ethnicity"	"Pat5"
"00432221"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">09y"	""	""	""	""	"Pat7"
"00432222"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">32y"	""	""	""	""	"Pat8"
"00432223"	""	""	""	"2"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">30y"	""	""	""	""	"Pat9"
"00432224"	""	""	"00432223"	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">52y"	""	""	""	""	"Pat10"
"00432225"	""	""	""	"2"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">29y"	""	""	""	""	"Pat11"
"00432226"	""	""	"00432225"	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">52y"	""	""	""	""	"Pat12"
"00432227"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">28y"	""	""	""	""	"Pat13"
"00432228"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">28y"	""	""	""	""	"Pat15"
"00432229"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">12y"	""	""	""	""	"Pat16"
"00432230"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">09y"	""	""	""	"Tatar ethnicity"	"Pat19"
"00432231"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">17y"	""	""	""	"Tatar ethnicity"	"Pat20"
"00432371"	""	""	""	"3"	""	"04465"	"{PMID:Lin 2019:31653500}"	""	"F"	"?"	"China"	">31y"	""	""	""	""	"Pat1"
"00432372"	""	""	"00432371"	"1"	""	"04465"	"{PMID:Lin 2019:31653500}"	""	"F"	"?"	"China"	">60y"	""	""	""	""	"Pat2"
"00432373"	""	""	"00431422"	"1"	""	"04465"	"{PMID:Lin 2019:31653500}"	""	"F"	"?"	"China"	">34y"	""	""	""	""	"Pat3"
"00432480"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">05y"	"0"	""	""	""	"Pat3"
"00432481"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">27y"	"0"	""	""	""	"Pat14"
"00432482"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">06y"	"0"	""	""	""	"Pat21"
"00432483"	""	""	""	"2"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"M"	"?"	"Russia"	">10y"	"0"	""	""	""	"Pat22"
"00432484"	""	""	"00432483"	"1"	""	"04465"	"{PMID:Nadyrshina 2022:35052464}"	""	"F"	"?"	"Russia"	">36y"	"0"	""	""	""	"Pat23"
"00432533"	""	""	"00432217"	"1"	""	"04465"	"{PMID:Niu 2022:35855543}"	""	"M"	"?"	"China"	">05y"	"0"	""	""	""	"Pat2"
"00432534"	""	""	"00432217"	"1"	""	"04465"	"{PMID:Niu 2022:35855543}"	""	"F"	"?"	"China"	"?"	"0"	""	""	""	"Pat3"
"00432946"	""	""	"00432220"	"1"	""	"04465"	"{PMID:Nadyrshina 2022:3505246}"	""	"F"	"?"	"Russia"	">59y"	"0"	""	""	"Tatar ethnicity"	"Pat6"
"00433440"	""	""	""	"3"	""	"04465"	"{PMID:Yang 2022:36140746}"	"2 fetuses and the father have the same variant, the fetuses have suspected OI but the father is not sick."	"?"	"?"	"? (unknown)"	"00y"	"0"	""	""	""	"Pat3a"
"00433441"	""	""	"00433440"	"1"	""	"04465"	"{PMID:Yang 2022:36140746}"	""	"?"	"?"	"? (unknown)"	"00y"	"0"	""	""	""	"Pat3b"
"00433681"	""	""	""	"1"	""	"04465"	"{PMID:Yang 2022:36140746}"	""	"?"	"no"	"? (unknown)"	"00y00m"	"0"	""	""	""	"Pat8"
"00434122"	""	""	""	"1"	""	"04465"	"{PMID:Nadyrshina 2022:3505246}"	""	"M"	"?"	"Russia"	">19y"	"0"	""	""	"Tatar ethnicity"	"Pat4"
"00434123"	""	""	""	"2"	""	"04465"	"{PMID:Nadyrshina 2022:3505246}"	""	"F"	"?"	"Russia"	">17y"	"0"	""	""	""	"Pat17"
"00434124"	""	""	"00434123"	"1"	""	"04465"	"{PMID:Nadyrshina 2022:3505246}"	""	"M"	"?"	"Russia"	">46y"	"0"	""	""	""	"Pat18"
"00434910"	""	""	""	"1"	""	"04465"	"{PMID:Cao 2023:36734182}"	""	"F"	"?"	"China"	">05y"	"0"	""	""	""	"Pat1"
"00435007"	""	""	""	"1"	""	"04465"	"{PMID:Kalayci 2023:36398383}"	""	"?"	"?"	"Turkey"	"00y00m"	"0"	""	""	""	"Pat3"
"00435008"	""	""	""	"1"	""	"04465"	"{PMID:Kalayci 2023:36398383}"	""	"?"	"?"	"Turkey"	"00y00m"	"0"	""	""	""	"Pat4"
"00435009"	""	""	""	"1"	""	"04465"	"{PMID:Kalayci 2023:36398383}"	""	"?"	"?"	"Turkey"	"00y00m"	"0"	""	""	""	"Pat5"
"00435010"	""	""	""	"1"	""	"04465"	"{PMID:Kalayci 2023:36398383}"	""	"?"	"?"	"Turkey"	"00y00m"	"0"	""	""	""	"Pat6"
"00435090"	""	""	""	"1"	""	"04419"	"{PMID:Gnoli et al., 2021:34025714}"	""	"F"	"no"	"Italy"	""	""	""	""	""	"1"
"00452926"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00453744"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV978"
"00453745"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV271"
"00453771"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV148"
"00453791"	""	""	""	"1"	""	"00006"	"{PMID:Mansoorshahi 2024:39226896}"	"analysis 215 early-onset complications bicuspid aortic valve-affected families."	""	""	"United States"	""	"0"	""	""	""	"BAV315"
"00459438"	""	""	""	"1"	""	"00085"	"{PMID:Schouw et al., 2024:39711104}"	"A second pregnancy was identified with the same OI2 characteristics and was also terminated."	"?"	"no"	"Netherlands"	""	"0"	""	""	""	"Fetus 1"
"00466714"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat1"
"00466715"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat2"
"00466716"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat3"
"00466717"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat4"
"00466718"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat5"
"00466719"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat6"
"00466720"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat7"
"00466721"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat8"
"00466722"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat9"
"00466723"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat10"
"00466724"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat11"
"00466725"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat12"
"00466726"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat13"
"00466727"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat14"
"00466728"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat15"
"00466729"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat16"
"00466730"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat17"
"00466731"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat18"
"00466732"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat19"
"00466733"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat20"
"00466734"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat21"
"00466735"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat22"
"00466736"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat23"
"00466737"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat24"
"00466738"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat25"
"00466739"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat26"
"00466740"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat27"
"00466741"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat28"
"00466742"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat29"
"00466743"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat30"
"00466744"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat31"
"00466745"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat32"
"00466746"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat33"
"00466747"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat34"
"00466748"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat35"
"00466749"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat36"
"00466750"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat37"
"00466751"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat38"
"00466752"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat39"
"00466753"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat40"
"00466754"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat41"
"00466755"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat42"
"00466756"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat43"
"00466757"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat44"
"00466758"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat45"
"00466759"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat46"
"00466760"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat47"
"00466761"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat48"
"00466762"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat49"
"00466763"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat50"
"00466764"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat51"
"00466765"	""	""	""	"1"	""	"00006"	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Turkey"	""	"0"	""	""	""	"Pat52"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5148
"{{individualid}}"	"{{diseaseid}}"
"00050699"	"00198"
"00079996"	"01481"
"00105902"	"05296"
"00132059"	"00637"
"00154400"	"00949"
"00173905"	"05296"
"00231402"	"01481"
"00231403"	"01481"
"00231404"	"01481"
"00231405"	"01481"
"00231406"	"01481"
"00231407"	"01481"
"00231408"	"01481"
"00231409"	"01481"
"00231410"	"01481"
"00231411"	"01481"
"00234068"	"05296"
"00234069"	"05296"
"00234070"	"05296"
"00234071"	"05296"
"00234072"	"05296"
"00234073"	"05296"
"00234074"	"05296"
"00234075"	"05296"
"00234076"	"05296"
"00234077"	"05296"
"00234078"	"05296"
"00234079"	"05296"
"00234080"	"05296"
"00234081"	"05296"
"00234082"	"05296"
"00234083"	"05296"
"00234084"	"05296"
"00234085"	"05296"
"00234086"	"05296"
"00234087"	"05296"
"00234088"	"05296"
"00234089"	"05296"
"00234090"	"05296"
"00234091"	"05296"
"00234092"	"05296"
"00234093"	"05296"
"00234094"	"05296"
"00234095"	"05296"
"00234096"	"05296"
"00234097"	"05296"
"00234098"	"05296"
"00234099"	"05296"
"00234100"	"05296"
"00234101"	"05296"
"00234102"	"05296"
"00234103"	"05296"
"00234104"	"05296"
"00234105"	"05296"
"00234106"	"05296"
"00234107"	"05296"
"00234108"	"05296"
"00234109"	"05296"
"00234110"	"05296"
"00234111"	"05296"
"00234112"	"05296"
"00234113"	"05296"
"00234114"	"05296"
"00234115"	"05296"
"00234116"	"05296"
"00234117"	"05296"
"00234118"	"05296"
"00234119"	"05296"
"00234120"	"05296"
"00234121"	"05296"
"00234122"	"05296"
"00234123"	"05296"
"00234124"	"05296"
"00234125"	"05296"
"00234126"	"05296"
"00234127"	"05296"
"00234128"	"05296"
"00234129"	"05296"
"00234130"	"05296"
"00234131"	"05296"
"00234132"	"05296"
"00234133"	"05296"
"00234134"	"05296"
"00234135"	"05296"
"00234136"	"05296"
"00234137"	"05296"
"00234138"	"05296"
"00234139"	"05296"
"00234140"	"05296"
"00234141"	"05296"
"00234142"	"05296"
"00234143"	"05296"
"00234144"	"05296"
"00234145"	"05296"
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"00397365"	"05296"
"00397369"	"05296"
"00397370"	"05296"
"00397371"	"05296"
"00397374"	"05296"
"00397376"	"05296"
"00397378"	"05296"
"00399289"	"05296"
"00399290"	"05296"
"00399292"	"05296"
"00409134"	"01481"
"00411521"	"00198"
"00413444"	"00169"
"00413445"	"00169"
"00413446"	"00169"
"00413447"	"00169"
"00416394"	"00636"
"00416395"	"00636"
"00416396"	"01481"
"00416397"	"00636"
"00416398"	"00636"
"00416399"	"05296"
"00416400"	"05296"
"00416401"	"01481"
"00416402"	"00635"
"00416403"	"00635"
"00416404"	"00635"
"00416405"	"01481"
"00416406"	"00635"
"00416407"	"01481"
"00416408"	"01481"
"00416409"	"00635"
"00416410"	"01481"
"00416411"	"01481"
"00416412"	"00635"
"00416413"	"01481"
"00416414"	"01481"
"00416415"	"01481"
"00416416"	"01481"
"00416417"	"01481"
"00416418"	"01481"
"00416419"	"01481"
"00416420"	"01481"
"00416421"	"01481"
"00416422"	"00636"
"00416423"	"01481"
"00416424"	"01481"
"00416425"	"01481"
"00416426"	"00636"
"00416427"	"01481"
"00416428"	"01481"
"00416429"	"01481"
"00416430"	"01481"
"00416431"	"01481"
"00416432"	"01481"
"00416433"	"01481"
"00417019"	"00198"
"00417020"	"00198"
"00417028"	"00198"
"00417033"	"00198"
"00417062"	"00198"
"00417071"	"00198"
"00417081"	"00198"
"00417088"	"00198"
"00417090"	"05296"
"00417091"	"05296"
"00417093"	"05296"
"00417096"	"00198"
"00417097"	"05296"
"00417099"	"00198"
"00417101"	"05296"
"00417113"	"05296"
"00417114"	"05296"
"00417125"	"05296"
"00417131"	"05296"
"00417134"	"05296"
"00417137"	"05296"
"00417139"	"05296"
"00417143"	"05296"
"00417146"	"05296"
"00417153"	"00198"
"00417154"	"05296"
"00417157"	"05296"
"00417578"	"05879"
"00418529"	"05296"
"00418529"	"05369"
"00419496"	"00198"
"00419497"	"00198"
"00419498"	"00198"
"00419610"	"00198"
"00427822"	"05296"
"00427873"	"05296"
"00427874"	"05296"
"00427875"	"05296"
"00427876"	"05296"
"00427877"	"05296"
"00427878"	"05296"
"00427879"	"05296"
"00427880"	"05296"
"00427881"	"05296"
"00427882"	"05296"
"00427883"	"05296"
"00427884"	"05296"
"00427885"	"05296"
"00427886"	"05296"
"00427887"	"05296"
"00427888"	"05296"
"00427889"	"05296"
"00427890"	"05296"
"00427891"	"05296"
"00427892"	"05296"
"00427893"	"05296"
"00427894"	"05296"
"00427895"	"05296"
"00427896"	"05296"
"00427897"	"05296"
"00427898"	"05296"
"00427899"	"05296"
"00427900"	"05296"
"00427901"	"05296"
"00427902"	"05296"
"00427903"	"05296"
"00427904"	"05296"
"00427905"	"05296"
"00427906"	"05296"
"00427907"	"05296"
"00427908"	"05296"
"00427909"	"05296"
"00427910"	"05296"
"00427911"	"05296"
"00427912"	"05296"
"00427913"	"05296"
"00427914"	"05296"
"00427915"	"05296"
"00427916"	"05296"
"00427917"	"05296"
"00427918"	"05296"
"00427919"	"05296"
"00427920"	"05296"
"00427921"	"05296"
"00427922"	"05296"
"00428049"	"00169"
"00428049"	"05296"
"00430290"	"05784"
"00431151"	"00169"
"00431151"	"05296"
"00431152"	"05784"
"00431153"	"05784"
"00431154"	"05784"
"00431346"	"05296"
"00431347"	"05296"
"00431387"	"01481"
"00431418"	"05296"
"00431537"	"00636"
"00431538"	"01481"
"00431539"	"01481"
"00431541"	"01481"
"00431545"	"01481"
"00431546"	"01481"
"00431547"	"00635"
"00431548"	"01481"
"00431551"	"01481"
"00431552"	"01481"
"00431776"	"05296"
"00431785"	"00169"
"00431809"	"05296"
"00431810"	"05296"
"00431811"	"00198"
"00431813"	"05296"
"00431814"	"05296"
"00431815"	"05296"
"00431836"	"05296"
"00432069"	"01481"
"00432210"	"05296"
"00432211"	"05296"
"00432217"	"01481"
"00432218"	"01481"
"00432219"	"01481"
"00432220"	"01481"
"00432221"	"01481"
"00432222"	"01481"
"00432223"	"01481"
"00432224"	"01481"
"00432225"	"00636"
"00432226"	"00636"
"00432227"	"01481"
"00432228"	"00636"
"00432229"	"00636"
"00432230"	"01481"
"00432231"	"01481"
"00432371"	"01481"
"00432372"	"01481"
"00432373"	"01481"
"00432480"	"01481"
"00432481"	"01481"
"00432482"	"00635"
"00432483"	"01481"
"00432484"	"01481"
"00432533"	"01481"
"00432534"	"01481"
"00432946"	"01481"
"00433440"	"05296"
"00433441"	"05296"
"00433681"	"05296"
"00434122"	"01481"
"00434123"	"01481"
"00434124"	"01481"
"00434910"	"03752"
"00435007"	"00637"
"00435008"	"00637"
"00435009"	"00637"
"00435010"	"00637"
"00435090"	"00169"
"00435090"	"05296"
"00452926"	"05296"
"00453744"	"00152"
"00453745"	"00152"
"00453771"	"00152"
"00453791"	"00152"
"00459438"	"00637"
"00466714"	"05296"
"00466715"	"05296"
"00466716"	"05296"
"00466717"	"05296"
"00466718"	"05296"
"00466719"	"05296"
"00466720"	"05296"
"00466721"	"05296"
"00466722"	"05296"
"00466723"	"05296"
"00466724"	"05296"
"00466725"	"05296"
"00466726"	"05296"
"00466727"	"05296"
"00466728"	"05296"
"00466729"	"05296"
"00466730"	"05296"
"00466731"	"05296"
"00466732"	"05296"
"00466733"	"05296"
"00466734"	"05296"
"00466735"	"05296"
"00466736"	"05296"
"00466737"	"05296"
"00466738"	"05296"
"00466739"	"05296"
"00466740"	"05296"
"00466741"	"05296"
"00466742"	"05296"
"00466743"	"05296"
"00466744"	"05296"
"00466745"	"05296"
"00466746"	"05296"
"00466747"	"05296"
"00466748"	"05296"
"00466749"	"05296"
"00466750"	"05296"
"00466751"	"05296"
"00466752"	"05296"
"00466753"	"05296"
"00466754"	"05296"
"00466755"	"05296"
"00466756"	"05296"
"00466757"	"05296"
"00466758"	"05296"
"00466759"	"05296"
"00466760"	"05296"
"00466761"	"05296"
"00466762"	"05296"
"00466763"	"05296"
"00466764"	"05296"
"00466765"	"05296"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00152, 00169, 00198, 00635, 00636, 00637, 00949, 01219, 01480, 01481, 01482, 01484, 02992, 03752, 04267, 05118, 05296, 05369, 05517, 05734, 05784, 05879
## Count = 819
"{{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}}"
"0000037311"	"00198"	"00050699"	"00006"	"Unknown"	""	"recurrent fractures, blue sclerae, horizontal nystagmus, ataxia, poor coordination, global developmental delay, delayed speech and language development, joint hypermobility"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000083822"	"05296"	"00105902"	"02120"	"Familial, X-linked dominant"	""	"osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000104265"	"00637"	"00132059"	"01396"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000104270"	"01481"	"00079996"	"01745"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000127075"	"00949"	"00154400"	"01164"	"Unknown"	"05y"	"Craniosynostosis, Low anterior hairline, Long eyelashes, Wide nose, Restlessness, Expressive language delay, Receptive language delay, Global developmental delay, Obesity"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000138760"	"05296"	"00173905"	"01873"	"Unknown"	""	"no family history, no tumors"	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	""	""
"0000173794"	"01481"	"00231402"	"03235"	"Familial, autosomal dominant"	"52y"	"mild; no blue sclera (-HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757);"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173795"	"01481"	"00231403"	"03235"	"Familial, autosomal dominant"	"22y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173796"	"01481"	"00231404"	"03235"	"Familial, autosomal dominant"	"8y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173797"	"01481"	"00231405"	"03235"	"Unknown"	"1y"	"mild; no deformities lower extremity; recurrent fractures (HP:0002757);"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173798"	"01481"	"00231406"	"03235"	"Familial, autosomal dominant"	"4y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173799"	"01481"	"00231407"	"03235"	"Familial, autosomal dominant"	"1y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173800"	"01481"	"00231408"	"03235"	"Unknown"	"28y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757);"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173801"	"01481"	"00231409"	"03235"	"Unknown"	"0y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173802"	"01481"	"00231410"	"03235"	"Unknown"	"1y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000173803"	"01481"	"00231411"	"03235"	"Unknown"	"0y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000174489"	"05296"	"00234068"	"00004"	"Unknown"	"4y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174490"	"05296"	"00234069"	"00004"	"Unknown"	"31y"	""	""	""	""	""	""	""	""	"Reduced type I procollagen, altered gel mobility"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174491"	"05296"	"00234070"	"00004"	"Familial, autosomal dominant"	"20y"	"multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174492"	"05296"	"00234071"	"00004"	"Familial, autosomal dominant"	"30y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174493"	"05296"	"00234072"	"00004"	"Unknown"	"23m"	"blue sclerae (HP:000592); fractures at birth; triangular face"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174494"	"05296"	"00234073"	"00004"	"Isolated (sporadic)"	"30y"	"Height/weight 146cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (6); Maligned spine; Beighton 5/9; mild bruising"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174495"	"05296"	"00234074"	"00004"	"Unknown"	"21m"	"blue sclerae (HP:000592); 2 fractures"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174496"	"05296"	"00234075"	"00004"	"Isolated (sporadic)"	"3y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Diffuse osteopenia; Joint laxity"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174497"	"05296"	"00234076"	"00004"	"Familial, autosomal dominant"	"30y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (4)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174498"	"05296"	"00234077"	"00004"	"Familial, autosomal dominant"	"35y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Finger and Forearm deformity; no hearing loss (-HP:0000365); no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174499"	"05296"	"00234078"	"00004"	"Familial, autosomal dominant"	"2y"	"2 fractures"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174500"	"05296"	"00234079"	"00004"	"Unknown"	"33y"	""	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174501"	"05296"	"00234080"	"00004"	"Familial, autosomal dominant"	"6y"	"blue sclerae (HP:000592); 1 fracture; triangular face, frontal bossing; Macrocephaly"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174502"	"05296"	"00234081"	"00004"	"Familial, autosomal dominant"	"30y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); Easy bruising, loose joints, scoliosis"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174503"	"05296"	"00234082"	"00004"	"Familial, autosomal dominant"	"35y"	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174504"	"05296"	"00234083"	"00004"	"Familial, autosomal dominant"	"22y"	"multiple fractures (HP:0002757) (14)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174505"	"05296"	"00234084"	"00004"	"Familial, autosomal dominant"	"5d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174506"	"05296"	"00234085"	"00004"	"Unknown"	"4y"	"blue/grey sclera (HP:0000591); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174507"	"05296"	"00234086"	"00004"	"Familial, autosomal dominant"	"33y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174508"	"05296"	"00234087"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174509"	"05296"	"00234088"	"00004"	"Familial, autosomal dominant"	"<1d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174510"	"05296"	"00234089"	"00004"	"Unknown"	"1d"	"1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174511"	"05296"	"00234090"	"00004"	"Unknown"	"1y"	"dark blue sclera (HP:0000591); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174512"	"05296"	"00234091"	"00004"	"Unknown"	"3m"	"dark blue sclera (HP:0000591); multiple fractures (HP:0002757); Hypermobile thumbs"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174513"	"05296"	"00234092"	"00004"	"Unknown"	"1y"	"blue sclerae (HP:000592); 1 fracture; Hypermobility of some joints (hands and wrist);"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174514"	"05296"	"00234093"	"00004"	"Familial, autosomal dominant"	"34y"	"grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174515"	"05296"	"00234094"	"00004"	"Familial, autosomal dominant"	"8y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Joint laxity; was on intravenous bisphosphonate s"	""	""	""	""	""	""	""	"Abnormal proα1(I) chains"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174516"	"05296"	"00234095"	"00004"	"Isolated (sporadic)"	"13y"	"Height/weight normal; blue sclerae (HP:000592); multiple fractures (HP:0002757); Prominent large and small joint hypermobility; exaggerated lordosis of back; was receiving bisphosphonate treatment as part of Novartis bisphosphonate intervention study but discontinued due to needle phobia"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174517"	"05296"	"00234096"	"00004"	"Unknown"	"18m"	"Height/weight 66cm at 8m; blue sclerae (HP:000592); multiple fractures (HP:0002757) (5)"	""	""	""	""	""	""	""	"collagen screen inconclusive"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174518"	"05296"	"00234097"	"00004"	"Unknown"	"31y"	""	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174519"	"05296"	"00234098"	"00004"	"Familial, autosomal dominant"	"20y"	"multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174520"	"05296"	"00234099"	"00004"	"Unknown"	"30y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174521"	"05296"	"00234100"	"00004"	"Unknown"	"5m"	"Height/weight 3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757); Wormian Bones"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174522"	"05296"	"00234101"	"00004"	"Familial, autosomal dominant"	"7m"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174523"	"05296"	"00234102"	"00004"	"Unknown"	"39y"	""	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174524"	"05296"	"00234103"	"00004"	"Familial, autosomal dominant"	"4y"	"2 fractures"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174525"	"05296"	"00234104"	"00004"	"Familial, autosomal dominant"	"2y"	"blue sclerae (HP:000592); 2 fractures"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174526"	"05296"	"00234105"	"00004"	"Familial, autosomal dominant"	"11m"	"Height/weight 50th%; blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174527"	"05296"	"00234106"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174528"	"05296"	"00234107"	"00004"	"Familial, autosomal dominant"	"53y"	"Height/weight 152cm; blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703); Severe aortic regurgitation w/out BAV or aortic stenosis, ascending aortic dilatation, possible endocarditis; thoracolumbar scoliosis"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174529"	"05296"	"00234108"	"00004"	"Unknown"	"22y"	"Height/weight 149cm; multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174530"	"05296"	"00234109"	"00004"	"Familial, autosomal dominant"	"47y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174531"	"05296"	"00234110"	"00004"	"Isolated (sporadic)"	"21d"	"Height/weight >3rd%; blue sclerae (HP:000592); multiple fractures (HP:0002757) (9); Curving of long bones; Decreased movement of the extremities"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174532"	"05296"	"00234111"	"00004"	"Unknown"	"24y"	"short stature (HP:0004322); blue sclerae (HP:000592); bowing long bones; hearing loss (HP:0000365); no dentinogenesis imperfecta (-HP:0000703); Scoliosis, bilateral femur and tibia rodding"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174533"	"05296"	"00234112"	"00004"	"Unknown"	"5y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (3)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174534"	"05296"	"00234113"	"00004"	"Isolated (sporadic)"	"5y"	"blue sclerae (HP:000592); fractures at birth"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174535"	"05296"	"00234114"	"00004"	"Isolated (sporadic)"	"26y"	"Height/weight 162cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (50+); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174536"	"05296"	"00234115"	"00004"	"Familial, autosomal dominant"	"1y2m"	"blue sclerae (HP:000592); no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174537"	"05296"	"00234116"	"00004"	"Familial, autosomal dominant"	""	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (20+); Forearm deformity; hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174538"	"05296"	"00234117"	"00004"	"Unknown"	"30y"	"multiple fractures (HP:0002757) (20+); bowed femurs"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174539"	"05296"	"00234118"	"00004"	"Familial, autosomal dominant"	"44y"	"multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174540"	"05296"	"00234119"	"00004"	"Unknown"	"18m"	"blue sclerae (HP:000592); 1 fracture; Joint hypermobility"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174541"	"05296"	"00234120"	"00004"	"Familial, autosomal dominant"	"36y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174542"	"05296"	"00234121"	"00004"	"Unknown"	"1y"	"grey sclera (HP:0000591); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174543"	"05296"	"00234122"	"00004"	"Isolated (sporadic)"	"26y"	"multiple fractures (HP:0002757) (70+); Scoliosis"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174544"	"05296"	"00234123"	"00004"	"Unknown"	"30y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); no hearing loss (-HP:0000365); dentinogenesis imperfecta (HP:0000703); Scoliosis; long, hyperextensible fingers; about 10 nevi in face and thorax"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174545"	"05296"	"00234124"	"00004"	"Familial, autosomal dominant"	"2y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (4)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174546"	"05296"	"00234125"	"00004"	"Unknown"	"27y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174547"	"05296"	"00234126"	"00004"	"Familial, autosomal dominant"	"2y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174548"	"05296"	"00234127"	"00004"	"Familial, autosomal dominant"	"21y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174549"	"05296"	"00234128"	"00004"	"Familial, autosomal dominant"	"1m"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174550"	"05296"	"00234129"	"00004"	"Unknown"	"31y"	"Height/weight 155cm; blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174551"	"05296"	"00234130"	"00004"	"Familial, autosomal dominant"	""	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (7); Frontal bowing"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174552"	"05296"	"00234131"	"00004"	"Familial, autosomal dominant"	"36y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174553"	"05296"	"00234132"	"00004"	"Unknown"	"4d"	"fractures at birth; Contralateral femur bowing"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174554"	"05296"	"00234133"	"00004"	"Unknown"	"34y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (8)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174555"	"05296"	"00234134"	"00004"	"Familial, autosomal dominant"	"9y"	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174556"	"05296"	"00234135"	"00004"	"Familial, autosomal dominant"	"1y6m"	"blue sclerae (HP:000592); Possible tibial bowing"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174557"	"05296"	"00234136"	"00004"	"Familial, autosomal dominant"	"29y"	"multiple fractures (HP:0002757); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174558"	"05296"	"00234137"	"00004"	"Familial, autosomal dominant"	"<1d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174559"	"05296"	"00234138"	"00004"	"Unknown"	"7m"	"blue sclerae (HP:000592); Flexible joints"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174560"	"05296"	"00234139"	"00004"	"Familial, autosomal dominant"	"33y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (12)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174561"	"05296"	"00234140"	"00004"	"Familial, autosomal dominant"	"14y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (3)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174562"	"05296"	"00234141"	"00004"	"Familial, autosomal dominant"	"45d"	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174563"	"05296"	"00234142"	"00004"	"Familial, autosomal dominant"	"8m"	"blue/grey sclera (HP:0000591); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174564"	"05296"	"00234143"	"00004"	"Unknown"	"31y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) (5)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174565"	"05296"	"00234144"	"00004"	"Unknown"	"41y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (32); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174566"	"05296"	"00234145"	"00004"	"Familial, autosomal dominant"	"6m"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174567"	"05296"	"00234146"	"00004"	"Familial, autosomal dominant"	"13m"	"Height/weight 50-75th%; blue sclerae (HP:000592); 2 fractures; Large head (OFC 97%), mother and other relatives with large heads"	""	""	""	""	""	""	""	"collagen screen inconclusive"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174568"	"05296"	"00234147"	"00004"	"Familial, autosomal dominant"	"33y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (3); Easy bruising, joint hypermobility, scoliosis"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174569"	"05296"	"00234148"	"00004"	"Familial, autosomal dominant"	"14y"	"multiple fractures (HP:0002757) (11); Deformity of elbows; Flat feet, cannot walk on tiptoes"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174570"	"05296"	"00234149"	"00004"	"Isolated (sporadic)"	"26y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174571"	"05296"	"00234150"	"00004"	"Familial, autosomal dominant"	"36y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174572"	"05296"	"00234151"	"00004"	"Familial, autosomal dominant"	"2y6m"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174573"	"05296"	"00234152"	"00004"	"Familial, autosomal dominant"	"2y"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174574"	"05296"	"00234153"	"00004"	"Unknown"	"8y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (4)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174575"	"05296"	"00234154"	"00004"	"Unknown"	"5y"	"blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703); Followed for \"hip clicks\" - no intervention"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174576"	"05296"	"00234155"	"00004"	"Familial, autosomal dominant"	"8y"	"blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) (3)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174577"	"05296"	"00234156"	"00004"	"Familial, autosomal dominant"	"1m"	"grey sclera (HP:0000591); multiple fractures (HP:0002757) (3)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174578"	"05296"	"00234157"	"00004"	"Familial, autosomal dominant"	"28y"	"fractures at birth; rodding femur rods – bilateral L. tibia rod"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174579"	"05296"	"00234158"	"00004"	"Familial, autosomal dominant"	"25y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174580"	"05296"	"00234159"	"00004"	"Familial, autosomal dominant"	"35d"	"fractures at birth"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174581"	"05296"	"00234160"	"00004"	"Familial, autosomal dominant"	"5y"	"blue sclerae (HP:000592); no multiple fractures (-HP:0002757) ; Mild joint hyperextensibilit y"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174582"	"05296"	"00234161"	"00004"	"Familial, autosomal dominant"	"5m"	"blue sclerae (HP:000592); 2 fractures"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174583"	"05296"	"00234162"	"00004"	"Unknown"	"26y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174584"	"05296"	"00234163"	"00004"	"Familial, autosomal dominant"	"3y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174585"	"05296"	"00234164"	"00004"	"Familial, autosomal dominant"	"1y"	"Height/weight 10th%; grey sclera (HP:0000591); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174586"	"05296"	"00234165"	"00004"	"Familial, autosomal dominant"	"7y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); osteopenia (HP:0000938)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174587"	"05296"	"00234166"	"00004"	"Familial, autosomal dominant"	"2m"	"multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174588"	"05296"	"00234167"	"00004"	"Unknown"	"6m"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); Bowing of tibias, cortical thickening"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174589"	"05296"	"00234168"	"00004"	"Unknown"	"84d"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174590"	"05296"	"00234169"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174591"	"05296"	"00234170"	"00004"	"Familial, autosomal dominant"	"30y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174592"	"05296"	"00234171"	"00004"	"Familial, autosomal dominant"	"84d"	"blue sclerae (HP:000592); no multiple fractures (-HP:0002757) ; no bone deformity"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174593"	"05296"	"00234172"	"00004"	"Unknown"	"8y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174594"	"05296"	"00234173"	"00004"	"Familial, autosomal dominant"	"7m"	"Height/weight 10th%; blue sclerae (HP:000592); multiple fractures (HP:0002757); Wormian Bones, osteopenia"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174595"	"05296"	"00234174"	"00004"	"Isolated (sporadic)"	"3y"	"Height/weight 60th%; blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); bowing bones; dentinogenesis imperfecta (HP:0000703); Loose jointed"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174596"	"05296"	"00234175"	"00004"	"Familial, autosomal dominant"	"1y"	"Height/weight 25-50th%; dark sclera (HP:0000591); 1 fracture; Mild bowing of long bones, osteopenia"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174597"	"05296"	"00234176"	"00004"	"Familial, autosomal dominant"	"32y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) (5)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174598"	"05296"	"00234177"	"00004"	"Familial, autosomal dominant"	"21y"	"blue sclerae (HP:000592); 2 fractures"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174599"	"05296"	"00234178"	"00004"	"Familial, autosomal dominant"	"6y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174600"	"05296"	"00234179"	"00004"	"Unknown"	"1y"	"blue sclerae (HP:000592); osteopenia (HP:0000938)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174601"	"05296"	"00234180"	"00004"	"Familial, autosomal dominant"	"1y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (3)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174602"	"05296"	"00234181"	"00004"	"Familial, autosomal dominant"	"5d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174603"	"05296"	"00234182"	"00004"	"Familial, autosomal dominant"	"36y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174604"	"05296"	"00234183"	"00004"	"Familial, autosomal dominant"	"<1d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174605"	"05296"	"00234184"	"00004"	"Familial, autosomal dominant"	"3m"	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174606"	"05296"	"00234185"	"00004"	"Familial, autosomal dominant"	"25y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757) (10)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174607"	"05296"	"00234186"	"00004"	"Familial, autosomal dominant"	"3y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (3); no dentinogenesis imperfecta (-HP:0000703); Easy bruising"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174608"	"05296"	"00234187"	"00004"	"Familial, autosomal dominant"	"34y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365); Hypermobility"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174609"	"05296"	"00234188"	"00004"	"Unknown"	"26y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (10)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174610"	"05296"	"00234189"	"00004"	"Familial, autosomal dominant"	"4y"	"grey sclera (HP:0000591); 2 fractures"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174611"	"05296"	"00234190"	"00004"	"Unknown"	"21y"	"multiple fractures (HP:0002757) (40-50)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174612"	"05296"	"00234191"	"00004"	"Familial, autosomal dominant"	"25y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (100+); hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703); Thoracic scoliosis"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174613"	"05296"	"00234192"	"00004"	"Unknown"	"5y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174614"	"05296"	"00234193"	"00004"	"Familial, autosomal dominant"	"12y"	"Takes fosamax"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174615"	"05296"	"00234194"	"00004"	"Familial, autosomal dominant"	"6y"	"blue sclerae (HP:000592); 1 fracture; osteopenia (HP:0000938)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174616"	"05296"	"00234195"	"00004"	"Unknown"	"1y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Low bone density"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174617"	"05296"	"00234196"	"00004"	"Familial, autosomal dominant"	"27y"	"blue/grey sclera (HP:0000591); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174618"	"05296"	"00234197"	"00004"	"Unknown"	"11y"	"multiple fractures (HP:0002757); Decreased bone density"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174619"	"05296"	"00234198"	"00004"	"Unknown"	"1y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174620"	"05296"	"00234199"	"00004"	"Familial, autosomal dominant"	"2y"	"Height/weight 10th%; blue sclerae (HP:000592); 1 fracture; Hypospadias; dermatoglyphics"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174621"	"05296"	"00234200"	"00004"	"Unknown"	"6m"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174622"	"05296"	"00234201"	"00004"	"Isolated (sporadic)"	"3y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (6); Congenital communicating hydrocephalus"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174623"	"05296"	"00234202"	"00004"	"Familial, autosomal dominant"	"2y"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174624"	"05296"	"00234203"	"00004"	"Unknown"	"<1d"	"bent tibia/fibula, short femurs/humerii, clubbed feet, abnormal spine"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174625"	"05296"	"00234204"	"00004"	"Isolated (sporadic)"	"1y"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174626"	"05296"	"00234205"	"00004"	"Isolated (sporadic)"	"2y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); Hypermobility"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174627"	"05296"	"00234206"	"00004"	"Unknown"	"2y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174628"	"05296"	"00234207"	"00004"	"Isolated (sporadic)"	"13y"	"blue sclerae (HP:000592); 2 fractures; Hypermobility"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174629"	"05296"	"00234208"	"00004"	"Familial, autosomal dominant"	"27y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365); no dentinogenesis imperfecta (-HP:0000703); Scoliosis"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174630"	"05296"	"00234209"	"00004"	"Familial, autosomal dominant"	"8y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174631"	"05296"	"00234210"	"00004"	"Familial, autosomal dominant"	"39y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); dentinogenesis imperfecta (HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174632"	"05296"	"00234211"	"00004"	"Unknown"	"3y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); Hyperextensible fingers"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174633"	"05296"	"00234212"	"00004"	"Unknown"	"70d"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174634"	"05296"	"00234213"	"00004"	"Isolated (sporadic)"	"43y"	"Height/weight normal; blue sclerae (HP:000592); multiple fractures (HP:0002757) (40-50); hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174635"	"05296"	"00234214"	"00004"	"Familial, autosomal dominant"	"8y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); hearing loss (HP:0000365); no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174636"	"05296"	"00234215"	"00004"	"Isolated (sporadic)"	"3y"	"Height/weight normal; multiple fractures (HP:0002757); no hearing loss (-HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174637"	"05296"	"00234216"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174638"	"05296"	"00234217"	"00004"	"Familial, autosomal dominant"	"9m"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"collagen screen inconclusive"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174639"	"05296"	"00234218"	"00004"	"Familial, autosomal dominant"	"28y"	"Height/weight 179cm; blue sclerae (HP:000592); multiple fractures (HP:0002757) (10+); no hearing loss (-HP:0000365); no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174640"	"05296"	"00234219"	"00004"	"Familial, autosomal dominant"	"26y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174641"	"05296"	"00234220"	"00004"	"Familial, autosomal dominant"	"28y"	"short stature (HP:0004322); blue/grey sclera (HP:0000591); dentinogenesis imperfecta (HP:0000703); Hypermobility, thin skin, easy bruising"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174642"	"05296"	"00234221"	"00004"	"Familial, autosomal dominant"	"33y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174643"	"05296"	"00234222"	"00004"	"Familial, autosomal dominant"	"10y"	"Height/weight Normal; blue sclerae (HP:000592); no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174644"	"05296"	"00234223"	"00004"	"Familial, autosomal dominant"	"35d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174645"	"05296"	"00234224"	"00004"	"Familial, autosomal dominant"	"6m"	"blue sclerae (HP:000592); 1 fracture; hearing loss (HP:0000365); no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174646"	"05296"	"00234225"	"00004"	"Isolated (sporadic)"	"15y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174647"	"05296"	"00234226"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174648"	"05296"	"00234227"	"00004"	"Familial, autosomal dominant"	"7m"	"blue sclerae (HP:000592); no multiple fractures (-HP:0002757) ; bowing and shortening of femurs"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174649"	"05296"	"00234228"	"00004"	"Unknown"	"42d"	"blue sclerae (HP:000592); 1 fracture; Tibial bowing"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174650"	"05296"	"00234229"	"00004"	"Unknown"	"6y"	"Height/weight 75-90th%; blue/grey sclera (HP:0000591); 2 fractures; Hyperextensible joints, flat feet, easy bruising, prolonged bleeding"	""	""	""	""	""	""	""	"collagen screen positive"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174651"	"05296"	"00234230"	"00004"	"Isolated (sporadic)"	"7y"	"Height/weight 10-25th%; blue sclerae (HP:000592); multiple fractures (HP:0002757); Madelung-type deformity; no dentinogenesis imperfecta (-HP:0000703); Frontal bossing with relative macrocephaly and angular profile of the lower facies"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174652"	"05296"	"00234231"	"00004"	"Familial, autosomal dominant"	"77d"	"multiple fractures (HP:0002757); Hypopituitarism"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174653"	"05296"	"00234232"	"00004"	"Isolated (sporadic)"	"6y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (5+); dentinogenesis imperfecta (HP:0000703); Increased flexibility"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174654"	"05296"	"00234233"	"00004"	"Familial, autosomal dominant"	"25y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174655"	"05296"	"00234234"	"00004"	"Unknown"	"1y"	"blue sclerae (HP:000592); 2 fractures; osteopenia (HP:0000938); no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174656"	"05296"	"00234235"	"00004"	"Familial, autosomal dominant"	"9m"	"blue sclerae (HP:000592); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174657"	"05296"	"00234236"	"00004"	"Familial, autosomal dominant"	"10m"	"Height/weight 25-50th%; blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174658"	"05296"	"00234237"	"00004"	"Familial, autosomal dominant"	"56d"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174659"	"05296"	"00234238"	"00004"	"Familial, autosomal dominant"	"1y"	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174660"	"05296"	"00234239"	"00004"	"Familial, autosomal dominant"	"21y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174661"	"05296"	"00234240"	"00004"	"Unknown"	"10y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174662"	"05296"	"00234241"	"00004"	"Familial, autosomal dominant"	""	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174663"	"05296"	"00234242"	"00004"	"Isolated (sporadic)"	"2y"	"blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); Decreased bone density; no hearing loss (-HP:0000365); no dentinogenesis imperfecta (-HP:0000703); Spontaneous intracranial hemorrhage subgaleal and posterior fossa on 2nd DOL; mild joint laxity; dev. delay; ligamentous laxity and hypotonia; valgus feet when standing (feet are still when weight- bearing);"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174664"	"05296"	"00234243"	"00004"	"Familial, autosomal dominant"	"18y11m"	"Height/weight 10th%; blue sclerae (HP:000592); multiple fractures (HP:0002757) (3); Parietal bossing of the forehead; dentinogenesis imperfecta (HP:0000703); Easy bruising, mild hyperflexibility of joints, moderate lordosis"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174665"	"05296"	"00234244"	"00004"	"Unknown"	"34y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174666"	"05296"	"00234245"	"00004"	"Familial, autosomal dominant"	"39y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174667"	"05296"	"00234246"	"00004"	"Familial, autosomal dominant"	"16y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); Trisomy 21"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174668"	"05296"	"00234247"	"00004"	"Familial, autosomal dominant"	"3y"	"Height/weight normal; multiple fractures (HP:0002757); Decreased bone density"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174669"	"05296"	"00234248"	"00004"	"Familial, autosomal dominant"	"8y"	"1 fracture; osteopenia (HP:0000938), platyspondly"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174670"	"05296"	"00234249"	"00004"	"Familial, autosomal dominant"	"5m"	"blue/grey sclera (HP:0000591); 1 fracture"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174671"	"05296"	"00234250"	"00004"	"Familial, autosomal dominant"	"3y"	"blue sclerae (HP:000592); 2 fractures; Loose Joints"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174672"	"05296"	"00234251"	"00004"	"Familial, autosomal dominant"	"34y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (5); Hyperelasticity"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174673"	"05296"	"00234252"	"00004"	"Unknown"	"34y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174674"	"05296"	"00234253"	"00004"	"Familial, autosomal dominant"	"9y"	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174675"	"05296"	"00234254"	"00004"	"Familial, autosomal dominant"	"13y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174676"	"05296"	"00234255"	"00004"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174677"	"05296"	"00234256"	"00004"	"Unknown"	"12y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); Low bone density"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174678"	"05296"	"00234257"	"00004"	"Familial, autosomal dominant"	"1y"	"blue sclerae (HP:000592); 1 fracture; dentinogenesis imperfecta (HP:0000703); Hyperextensible fingers, easy bruising"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174679"	"05296"	"00234258"	"00004"	"Isolated (sporadic)"	"25y"	"Height/weight 150cm; multiple fractures (HP:0002757) (100-150)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174680"	"05296"	"00234259"	"00004"	"Familial, autosomal dominant"	"30y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174681"	"05296"	"00234260"	"00004"	"Familial, autosomal dominant"	"23y"	"Height/weight normal; blue sclerae (HP:000592); multiple fractures (HP:0002757); Minimal deformity; no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174682"	"05296"	"00234261"	"00004"	"Familial, autosomal dominant"	"34y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (20)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174683"	"05296"	"00234262"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174684"	"05296"	"00234263"	"00004"	"Isolated (sporadic)"	"9m"	"multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174685"	"05296"	"00234264"	"00004"	"Familial, autosomal dominant"	"10y"	"Height/weight 135cm at 10y; blue sclerae (HP:000592); multiple fractures (HP:0002757) (9); no bone deformity"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174686"	"05296"	"00234265"	"00004"	"Isolated (sporadic)"	"3m"	"blue sclerae (HP:000592)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174687"	"05296"	"00234266"	"00004"	"Familial, autosomal dominant"	"6m"	"Height/weight 3rd%; fractures at birth"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174688"	"05296"	"00234267"	"00004"	"Unknown"	"6m"	"Height/weight 3rd%; blue sclerae (HP:000592); no multiple fractures (-HP:0002757) ; Developmental delay"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174689"	"05296"	"00234268"	"00004"	"Isolated (sporadic)"	"21d"	"grey sclera (HP:0000591)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174690"	"05296"	"00234269"	"00004"	"Unknown"	""	"Height/weight reduced; blue sclerae (HP:000592); multiple fractures (HP:0002757); Shortened extremities with distal atrophy and bowing;; no dentinogenesis imperfecta (-HP:0000703); face slightly triangular and dysmorphic; developmental delay"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000174691"	"05296"	"00234270"	"00004"	"Unknown"	"1d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174692"	"05296"	"00234271"	"00004"	"Unknown"	"5m"	"multiple fractures (HP:0002757) (both femurs, tibia, fibular, radii, l. humerus, and 1st-7th ribs); absence of ossification of calvarium, thick crumbled long bones, continuously beaded ribs; radiology undermineralized bones"	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen chains"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174693"	"05296"	"00234272"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen chains"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174694"	"05296"	"00234273"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174695"	"05296"	"00234274"	"00004"	"Unknown"	"1d"	"multiple fractures (HP:0002757) (all long bones, several ribs)"	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen chains"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174696"	"05296"	"00234275"	"00004"	"Unknown"	"9m"	"multiple fractures (HP:0002757) ribs and long bones; Short limbs, short ribs, absent sternum; Stillbirth"	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen chains"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174697"	"05296"	"00234276"	"00004"	"Unknown"	"<1d"	"short limbs; fractures (HP:0002757) ; Crumpled bones of all limbs, beaded ribs, and decreased skull mineralizatio n\""	""	""	""	""	""	""	""	"Subtle abnormality of type I procollagen"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174698"	"05296"	"00234277"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174699"	"05296"	"00234278"	"00004"	"Unknown"	"1y"	"multiple fractures (HP:0002757) at birth (radius, ulna, fractures of femurs); Severely deformed, cupped ribs, thorax narrow and misshapen, metaphyseal cupping, bowing of tibias and femurs, shortened limbs; flat fontanelle, softnes top cranium; radiologyt hin ribs, wormian bones of skull, thick femur"	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen chains"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174700"	"05296"	"00234279"	"00004"	"Unknown"	"1d"	"congenital fractures; Respiratory failure"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174701"	"05296"	"00234280"	"00004"	"Unknown"	"2d"	"High arched palate"	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen chains"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174702"	"05296"	"00234281"	"00004"	"Unknown"	"3d"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174703"	"05296"	"00234282"	"00004"	"Unknown"	"2m"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174704"	"05296"	"00234283"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen chains"	""	""	""	""	"OI-2"	"osteogenesis imperfecta"	""
"0000174705"	"05296"	"00234284"	"00004"	"Unknown"	"47y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (150+); Scoliosis; r. hip dislocation"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174706"	"05296"	"00234285"	"00004"	"Unknown"	"9y"	"Height/weight 10th%; blue sclerae (HP:000592); multiple fractures (HP:0002757); Bowing of right thigh and left leg; rodding both lower limbs; triangular, tapered face; Excess joint laxity, particularly of small joints; minimal muscle mass; minimal scoliosis; received pamidronate therapy"	""	""	""	""	""	""	""	"Reduced type I procollagen"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174707"	"05296"	"00234286"	"00004"	"Unknown"	"9y"	"short stature (HP:0004322); blue sclerae (HP:000592); multiple fractures (HP:0002757); Bowing of r. humerus,  r. ulna, l. humerus and tibia/fibia; Bilateral femoral, tibial rodding, and l. humeral rodding, r. radial/ulnar K- wire fixation, r. tibial IM fixation; dentinogenesis imperfecta (HP:0000703); triangular facies, mild frontal bossing,"	""	""	""	""	""	""	""	"collagen screen normal"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174708"	"05296"	"00234287"	"00004"	"Unknown"	"1m"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174709"	"05296"	"00234288"	"00004"	"Unknown"	""	"Height/weight 3rd%; multiple fractures (HP:0002757); bowing long bones; Thin ribs"	""	""	""	""	""	""	""	""	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174710"	"05296"	"00234289"	"00004"	"Isolated (sporadic)"	"24y"	"short stature (HP:0004322); blue sclerae (HP:000592); bowing long bones; dentinogenesis imperfecta (HP:0000703)"	""	""	""	""	""	""	""	"Scoliosis, bilateral femur and tibia rodding"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174711"	"05296"	"00234290"	"00004"	"Familial, autosomal dominant"	"22y"	"grey sclera (HP:0000591); multiple fractures (HP:0002757); \"Barrel chest\""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174712"	"05296"	"00234291"	"00004"	"Unknown"	"1d"	"blue/grey sclera (HP:0000591); multiple fractures (HP:0002757); bowing and shortening of limbs; hyperflexion of l. hip causing abnormal positioning of l. leg, reduced bone density; rodding"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174713"	"05296"	"00234292"	"00004"	"Unknown"	"37y"	"short stature (HP:0004322)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174714"	"05296"	"00234293"	"00004"	"Isolated (sporadic)"	"26y"	"Height/weight 1.33m; blue sclerae (HP:000592); multiple fractures (HP:0002757) (60+); bowing long bones; no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174715"	"05296"	"00234294"	"00004"	"Unknown"	"<1d"	"multiple fractures (HP:0002757); l. femur bowed, l. clubfoot, r. femur shortened"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-3"	"osteogenesis imperfecta"	""
"0000174716"	"05296"	"00234295"	"00004"	"Unknown"	"4y"	"blue sclerae (HP:000592); Multiple limb deformities"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174717"	"05296"	"00234296"	"00004"	"Isolated (sporadic)"	"12y"	"Height/weight 45th%; blue sclerae (HP:000592); multiple fractures (HP:0002757) (3); dentinogenesis imperfecta (HP:0000703); Thoracic kyphosis and cervical and lumbar lordosis"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174718"	"05296"	"00234297"	"00004"	"Unknown"	"35y"	"multiple fractures (HP:0002757) (9); Osteonecrosis after foot injury"	""	""	""	""	""	""	""	""	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174719"	"05296"	"00234298"	"00004"	"Unknown"	"20y"	"multiple fractures (HP:0002757); hearing loss (HP:0000365); dentinogenesis imperfecta (HP:0000703)"	""	""	""	""	""	""	""	"Abnormal proα1(I) chain"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174720"	"05296"	"00234299"	"00004"	"Unknown"	"6y"	""	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174721"	"05296"	"00234300"	"00004"	"Isolated (sporadic)"	"4m"	"height/weight was SGA; blue sclerae (HP:000592); fractures at birth; bilateral bowed femurs, detected on prenatal ultrasound; Mild hip subluxation"	""	""	""	""	""	""	""	"collagen screen normal"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174722"	"05296"	"00234301"	"00004"	"Unknown"	"18y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757); rodding femur and tibia; no dentinogenesis imperfecta (-HP:0000703)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174723"	"05296"	"00234302"	"00004"	"Unknown"	"4m"	"blue sclerae (HP:000592); fractures at birth; bowing bones"	""	""	""	""	""	""	""	"collagen screen normal"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174724"	"05296"	"00234303"	"00004"	"Unknown"	"2y"	"Height/weight 50th%; blue/grey sclera (HP:0000591); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"Abnormal proα1(I) chain"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174725"	"05296"	"00234304"	"00004"	"Familial, autosomal dominant"	"56y"	"short stature (HP:0004322); blue/grey sclera (HP:0000591); multiple fractures (HP:0002757) (6); hearing loss (HP:0000365)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174726"	"05296"	"00234305"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	"Altered electrophoretic mobility of type I procollagen"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174727"	"05296"	"00234306"	"00004"	"Familial, autosomal dominant"	"30y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (100+); rodding"	""	""	""	""	""	""	""	"collagen screen positive"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174728"	"05296"	"00234307"	"00004"	"Familial, autosomal dominant"	"2y"	"blue sclerae (HP:000592); multiple fractures (HP:0002757) (4)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174729"	"05296"	"00234308"	"00004"	"Familial, autosomal dominant"	"36y"	"multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174730"	"05296"	"00234309"	"00004"	"Familial, autosomal dominant"	"<1d"	"multiple fractures (HP:0002757) at birth; Femur shortening/angulati on (consistent w/ bilateral femur fxs); shortening and bowing of both tibias and fibulas, slight shortening of humeri, radii, and ulnae w/o bowing"	""	""	""	""	""	""	""	"Reduced type I procollagen and abnormal electrophoretic mobility"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174731"	"05296"	"00234310"	"00004"	"Isolated (sporadic)"	"1y"	"multiple fractures (HP:0002757) at birth; Significant bowing of femorae and tibiae; marked flexed attitude of both knees; mild bowing of forearm bilaterally"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000174732"	"05296"	"00234311"	"00004"	"Isolated (sporadic)"	"4m"	"blue sclerae (HP:000592); multiple fractures (HP:0002757)"	""	""	""	""	""	""	""	"no collagen screen performed"	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000199334"	"01481"	"00260782"	"01864"	"Familial, autosomal dominant"	"05y11m"	"1 fracture,\r\n(HP:0000703) Dentinogenesis imperfecta,\r\n(HP:0002980) Femoral bowing,\r\n(HP:0000592) Blue sclerae"	"?"	""	""	""	""	"06y?"	"?"	"?"	""	""	""	""	"short stature and osteogenesis imperfecta, type I"	"short stature"	""
"0000199335"	"04184"	"00260782"	"01864"	"Familial, autosomal dominant"	"05y11m"	"(HP:0004322) Short stature"	"?"	""	""	""	""	"06y?"	"?"	"?"	""	""	""	""	"short stature and osteogenesis imperfecta, type I"	"short stature"	""
"0000199383"	"01481"	"00260851"	"01864"	"Familial, autosomal dominant"	""	"2 fracture"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199402"	"04184"	"00260851"	"01864"	"Familial, autosomal dominant"	""	"short stature (HP:0004322)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199695"	"01481"	"00261189"	"01864"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199697"	"01481"	"00261191"	"01864"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199698"	"01481"	"00261192"	"01864"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000199699"	"01481"	"00261193"	"01864"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000200603"	"01481"	"00261190"	"01864"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000203515"	"00169"	"00265730"	"02544"	"Unknown"	"23y"	"The patient has blue sclerae, generalized joint hypermobility, multiple joint dislocations, three fractures in adulthood, recurrent diverticulitis requiring hemicolectomy, mild mitral valve prolapse, and insufficiency and stenosis of moderate degree of the aortic valve."	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta/Ehlers-Danlos syndrome overlap"	"suspected EDS"	""
"0000203516"	"00169"	"00265731"	"02544"	"Unknown"	"56y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"suspected EDS"	""
"0000203519"	"00169"	"00265734"	"02544"	"Unknown"	"40y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta/Ehlers-Danlos syndrome overlap"	"suspected EDS"	""
"0000203521"	"00169"	"00265735"	"02544"	"Familial"	"06y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta/Ehlers-Danlos syndrome overlap"	"suspected EDS"	""
"0000203522"	"00169"	"00265736"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta/Ehlers-Danlos syndrome overlap"	"suspected EDS"	""
"0000203523"	"00169"	"00265737"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta/Ehlers-Danlos syndrome overlap"	"suspected EDS"	""
"0000207731"	"00198"	"00269935"	"01164"	"Unknown"	""	"Abnormality of the sclera (HP:0000591); Abnormality of movement (HP:0100022); Abnormality of dental enamel (HP:0000682)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000223799"	"00198"	"00296385"	"01164"	"Unknown"	""	"Recurrent fractures (HP:0002757); Blue sclerae (HP:0000592)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000227061"	"01481"	"00299748"	"03235"	"Familial, autosomal dominant"	"1y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227062"	"01481"	"00299749"	"03235"	"Unknown"	"28y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227063"	"01481"	"00299750"	"03235"	"Familial, autosomal dominant"	"7y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	"yousukehiguchi"	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227064"	"01481"	"00299751"	"03235"	"Isolated (sporadic)"	"11y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	"11y"	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227065"	"01481"	"00299752"	"03235"	"Isolated (sporadic)"	"38y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227066"	"01481"	"00299753"	"03235"	"Familial, autosomal dominant"	"0y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227067"	"01481"	"00299754"	"03235"	"Unknown"	"7y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	"07y"	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227068"	"01481"	"00299755"	"03235"	"Familial, autosomal dominant"	"0y"	"mild; no deformities lower extremity;"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227069"	"01481"	"00299756"	"03235"	"Unknown"	"8y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	"08y"	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227070"	"01481"	"00299757"	"03235"	"Unknown"	"0y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227071"	"01481"	"00299758"	"03235"	"Familial, autosomal dominant"	"0y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227072"	"01481"	"00299759"	"03235"	"Unknown"	"12y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227073"	"01481"	"00299760"	"03235"	"Unknown"	"4y"	"mild; no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227074"	"01481"	"00299761"	"03235"	"Familial, autosomal dominant"	"11y"	"mild; blue sclera (HP:0000592); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227075"	"01481"	"00299762"	"03235"	"Familial, autosomal dominant"	"0y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227076"	"01481"	"00299763"	"03235"	"Familial, autosomal dominant"	"3y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227077"	"01481"	"00299764"	"03235"	"Unknown"	"40y"	"mild; no deformities lower extremity;"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227078"	"01481"	"00299765"	"03235"	"Familial, autosomal dominant"	"10y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227079"	"01481"	"00299766"	"03235"	"Familial, autosomal dominant"	"0y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227080"	"01481"	"00299767"	"03235"	"Familial, autosomal dominant"	"18y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757);"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227081"	"01481"	"00299768"	"03235"	"Familial, autosomal dominant"	"4y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227082"	"01481"	"00299769"	"03235"	"Familial, autosomal dominant"	"0y"	"mild; no deformities lower extremity; no recurrent fractures (-HP:0002757); no bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227083"	"01481"	"00299770"	"03235"	"Familial, autosomal dominant"	"28y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227085"	"01481"	"00299771"	"03235"	"Familial, autosomal dominant"	"3y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227086"	"01481"	"00299772"	"03235"	"Unknown"	"24y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deafness (HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227088"	"01481"	"00299774"	"03235"	"Familial, autosomal dominant"	"2y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757);"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227092"	"01481"	"00299775"	"03235"	"Unknown"	"11y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227093"	"01481"	"00299776"	"03235"	"Unknown"	"4y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227094"	"01481"	"00299777"	"03235"	"Unknown"	"9y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227095"	"01481"	"00299778"	"03235"	"Familial, autosomal dominant"	"2y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227096"	"01481"	"00299779"	"03235"	"Familial, autosomal dominant"	"12y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757);"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227097"	"01481"	"00299780"	"03235"	"Familial, autosomal dominant"	"0y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227098"	"01481"	"00299781"	"03235"	"Familial, autosomal dominant"	"1y"	"mild; no deformities lower extremity;"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227099"	"01481"	"00299782"	"03235"	"Familial, autosomal dominant"	"3y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227251"	"01481"	"00299930"	"03235"	"Unknown"	"11y"	"mild; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227252"	"01481"	"00299931"	"03235"	"Unknown"	"1y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227253"	"01481"	"00299932"	"03235"	"Unknown"	"0y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227254"	"01481"	"00299933"	"03235"	"Unknown"	"3y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); no bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227255"	"01481"	"00299934"	"03235"	"Unknown"	"12y"	"mild; no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227256"	"01481"	"00299935"	"03235"	"Unknown"	"10y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227257"	"01481"	"00299936"	"03235"	"Unknown"	"5y"	"mild; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227258"	"01481"	"00299937"	"03235"	"Unknown"	"14y"	"mild; blue sclera (HP:0000592); no deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227261"	"05296"	"00299940"	"03235"	"Unknown"	"14y"	"moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227262"	"05296"	"00299941"	"03235"	"Unknown"	"0y"	"moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227263"	"05296"	"00299942"	"03235"	"Unknown"	"0y"	"moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227264"	"05296"	"00299943"	"03235"	"Unknown"	"36y"	"moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227265"	"05296"	"00299944"	"03235"	"Unknown"	"4y"	"moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227266"	"05296"	"00299945"	"03235"	"Unknown"	"1y"	"moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227267"	"05296"	"00299946"	"03235"	"Unknown"	"33y"	"moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); no deafness (-HP:0000365); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227268"	"05296"	"00299947"	"03235"	"Unknown"	"0y"	"moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227269"	"05296"	"00299948"	"03235"	"Unknown"	"0y"	"moderate/severe; deformities lower extremity;"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227270"	"05296"	"00299949"	"03235"	"Unknown"	"15y"	"moderate/severe; no blue sclera (-HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227271"	"05296"	"00299950"	"03235"	"Unknown"	"0y"	"moderate/severe; blue sclera (HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227272"	"05296"	"00299951"	"03235"	"Unknown"	"0y"	"moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; no recurrent fractures (-HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227273"	"05296"	"00299952"	"03235"	"Unknown"	"2y"	"moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227274"	"05296"	"00299953"	"03235"	"Unknown"	"0y"	"moderate/severe; deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227275"	"05296"	"00299954"	"03235"	"Unknown"	"30y"	"moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227276"	"05296"	"00299955"	"03235"	"Unknown"	"16y"	"moderate/severe; blue sclera (HP:0000592); no dentinogenesis imperfecta (-HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227277"	"05296"	"00299956"	"03235"	"Unknown"	"28y"	"moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227278"	"05296"	"00299957"	"03235"	"Unknown"	"11y"	"moderate/severe; no blue sclera (-HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227279"	"05296"	"00299958"	"03235"	"Unknown"	"17y"	"moderate/severe; blue sclera (HP:0000592); dentinogenesis imperfecta (HP:0000703); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227280"	"05296"	"00299959"	"03235"	"Unknown"	"6y"	"moderate/severe; no blue sclera (-HP:0000592); no dentinogenesis imperfecta (-HP:0000703); no deafness (-HP:0000365); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227281"	"05296"	"00299960"	"03235"	"Unknown"	"0y"	"moderate/severe; no blue sclera (-HP:0000592); deformities lower extremity; recurrent fractures (HP:0002757); bone fragility (-HP:0002659)"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"osteogenesis imperfecta"	""
"0000227655"	"05296"	"00300347"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227656"	"05296"	"00300348"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227657"	"05296"	"00300349"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227658"	"05296"	"00300350"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  IV"	""
"0000227659"	"05296"	"00300351"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  IV"	""
"0000227660"	"05296"	"00300352"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227661"	"05296"	"00300353"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  IV"	""
"0000227662"	"05296"	"00300354"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227663"	"05296"	"00300355"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227664"	"05296"	"00300356"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  III"	""
"0000227665"	"05296"	"00300357"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  III"	""
"0000227666"	"05296"	"00300358"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  IV"	""
"0000227667"	"05296"	"00300359"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  IV"	""
"0000227668"	"05296"	"00300360"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227669"	"05296"	"00300361"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  I"	""
"0000227670"	"05296"	"00300362"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  IV"	""
"0000227671"	"05296"	"00300363"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogeneis imperfecta type  III"	""
"0000227693"	"05296"	"00300385"	"00006"	"Familial, autosomal dominant"	"4y7m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type IV"	""
"0000227694"	"05296"	"00300386"	"00006"	"Familial, autosomal dominant"	"16y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type I"	""
"0000227695"	"05296"	"00300387"	"00006"	"Familial, autosomal dominant"	"11y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type I"	""
"0000227696"	"05296"	"00300388"	"00006"	"Familial, autosomal dominant"	"4y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227697"	"05296"	"00300389"	"00006"	"Familial, autosomal dominant"	"10y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type IV"	""
"0000227698"	"05296"	"00300390"	"00006"	"Familial, autosomal dominant"	"12y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227699"	"05296"	"00300391"	"00006"	"Familial, autosomal dominant"	"11y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227700"	"05296"	"00300392"	"00006"	"Familial, autosomal dominant"	"10y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type IV"	""
"0000227701"	"05296"	"00300393"	"00006"	"Familial, autosomal dominant"	"25y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227702"	"05296"	"00300394"	"00006"	"Familial, autosomal dominant"	"12y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227703"	"05296"	"00300395"	"00006"	"Familial, autosomal dominant"	"6y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type IV"	""
"0000227704"	"05296"	"00300396"	"00006"	"Familial, autosomal dominant"	"6y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type IV"	""
"0000227705"	"05296"	"00300397"	"00006"	"Familial, autosomal dominant"	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type I"	""
"0000227706"	"05296"	"00300398"	"00006"	"Familial, autosomal dominant"	"6y7m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227707"	"05296"	"00300399"	"00006"	"Familial, autosomal dominant"	"23y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227708"	"05296"	"00300400"	"00006"	"Familial, autosomal dominant"	"14y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227709"	"05296"	"00300401"	"00006"	"Familial, autosomal dominant"	"5y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000227710"	"05296"	"00300402"	"00006"	"Familial, autosomal dominant"	"7y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type I"	""
"0000227711"	"05296"	"00300403"	"00006"	"Familial, autosomal dominant"	"3y2m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type IV"	""
"0000227712"	"05296"	"00300404"	"00006"	"Familial, autosomal dominant"	"31y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta type III"	""
"0000242438"	"05296"	"00320483"	"03856"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242439"	"05296"	"00320511"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242440"	"05296"	"00320514"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242441"	"05296"	"00320563"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242442"	"05296"	"00320564"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242443"	"05296"	"00320590"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242444"	"05296"	"00320598"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242445"	"05296"	"00320599"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242446"	"05296"	"00320610"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242447"	"05296"	"00320611"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242448"	"05296"	"00320612"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242449"	"05296"	"00320613"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242450"	"00169"	"00320650"	"01819"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242451"	"00169"	"00320651"	"03879"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242452"	"00169"	"00320652"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242453"	"05296"	"00320665"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242454"	"05296"	"00320667"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242455"	"05296"	"00320668"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242456"	"05296"	"00320669"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242457"	"05296"	"00320670"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242458"	"05296"	"00320671"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242459"	"05296"	"00320672"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242460"	"05296"	"00320673"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242461"	"05296"	"00320674"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242462"	"00169"	"00320688"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242463"	"05296"	"00320700"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242464"	"05296"	"00320701"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242465"	"05296"	"00320702"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242466"	"05296"	"00320703"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242467"	"05296"	"00320704"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242468"	"00169"	"00320705"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242469"	"00169"	"00320719"	"01819"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242470"	"00198"	"00320735"	"00085"	"-"	""	"Low bone mineral density,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242471"	"00198"	"00320736"	"00085"	"-"	""	"Low bone mineral density,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242472"	"05734"	"00320741"	"00085"	"-"	""	"Rare instance of Bruck syndrome type 3,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242473"	"00169"	"00320750"	"01819"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242474"	"00169"	"00320770"	"03702"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242475"	"05296"	"00320782"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242476"	"00169"	"00320799"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242477"	"00169"	"00320804"	"03865"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242479"	"00169"	"00320808"	"03878"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242480"	"05296"	"00320854"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242481"	"05296"	"00320867"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242482"	"05296"	"00320868"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242483"	"05296"	"00320902"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242484"	"05296"	"00320920"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242485"	"05296"	"00320921"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242486"	"05296"	"00320948"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242487"	"05296"	"00320953"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242488"	"05296"	"00320954"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242489"	"05296"	"00321030"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242490"	"05296"	"00321037"	"03879"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242491"	"05296"	"00321052"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242492"	"05296"	"00321062"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242493"	"05296"	"00321094"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242494"	"05296"	"00321101"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242495"	"05296"	"00321123"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242496"	"05296"	"00321131"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242497"	"05296"	"00321154"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242498"	"05296"	"00321155"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242499"	"05296"	"00321156"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242500"	"05296"	"00321157"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242501"	"05296"	"00321158"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242502"	"05296"	"00321159"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242503"	"05296"	"00321241"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242504"	"05296"	"00321242"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242505"	"05296"	"00321273"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242506"	"05296"	"00321274"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242507"	"05296"	"00321290"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242508"	"05296"	"00321291"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242509"	"05296"	"00321298"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242510"	"05296"	"00321351"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242511"	"05296"	"00321356"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242512"	"05296"	"00321361"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242513"	"05296"	"00321362"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242514"	"00169"	"00321378"	"03878"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242515"	"05296"	"00321429"	"00085"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242516"	"05296"	"00321442"	"00085"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242517"	"05296"	"00321464"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242518"	"05296"	"00321467"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242519"	"05296"	"00321468"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242520"	"05296"	"00321488"	"00085"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242521"	"05296"	"00321491"	"00085"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242522"	"05296"	"00321510"	"03879"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242523"	"05296"	"00321511"	"03879"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242524"	"05296"	"00321512"	"03879"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242525"	"05296"	"00321552"	"00085"	"-"	""	"Osteogenesis imperfecta type 3/type 4 B overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242526"	"05296"	"00321568"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242527"	"05296"	"00321569"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242528"	"05296"	"00321578"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242529"	"05296"	"00321601"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242530"	"05296"	"00321615"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242531"	"05296"	"00321647"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242534"	"05296"	"00321701"	"00085"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242535"	"00169"	"00321703"	"00085"	"Familial, autosomal recessive"	""	"skin and joint laxity, respiratory distress at birth, craniofacial dysmorphism (high forehead, blue sclera, mid-face hypoplasia, saggy cheeks, and microstomia/carp mouth), severe hypotonia with muscle wasting, head lag and absent reflexes"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSARTH1"	"Ehlers-Danlos syndrome"	""
"0000242536"	"00169"	"00321704"	"00085"	"Familial, autosomal dominant"	""	"skin and joint laxity, respiratory distress at birth, craniofacial dysmorphism (high forehead, blue sclera, mid-face hypoplasia, saggy cheeks and microstomia/carp mouth), severe hypotonia with muscle wasting, head lag and absent reflexes"	""	""	""	""	""	""	""	""	""	""	""	""	"EDSARTH1"	"Ehlers-Danlos syndrome"	""
"0000242537"	"05296"	"00321723"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242538"	"05296"	"00321724"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242539"	"05296"	"00321731"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242540"	"05296"	"00321732"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242541"	"05296"	"00321733"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242542"	"05296"	"00321801"	"00085"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242543"	"05296"	"00321810"	"03856"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242544"	"05296"	"00321882"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242545"	"05296"	"00321894"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242546"	"05296"	"00321898"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242547"	"05296"	"00321902"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242548"	"00198"	"00321923"	"00085"	"-"	""	"Unclassified connective tissue disorder,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242549"	"05296"	"00321939"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242550"	"05296"	"00321940"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242551"	"05296"	"00321941"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242552"	"05296"	"00321957"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242553"	"05296"	"00321958"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242554"	"05296"	"00321993"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242555"	"05296"	"00322018"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242556"	"05296"	"00322031"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242557"	"00169"	"00322034"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242558"	"05296"	"00322045"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242559"	"05296"	"00322046"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242560"	"05296"	"00322047"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242563"	"05296"	"00322057"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242564"	"05296"	"00322059"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242565"	"05296"	"00322144"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242566"	"05296"	"00322156"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242567"	"05296"	"00322159"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242568"	"05296"	"00322160"	"03856"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242569"	"00169"	"00322211"	"03878"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242570"	"05296"	"00322216"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242571"	"05296"	"00322226"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242572"	"05296"	"00322227"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242573"	"05296"	"00322250"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242574"	"05296"	"00322257"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242575"	"05296"	"00322283"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242576"	"00169"	"00322332"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242577"	"05296"	"00322341"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242578"	"05296"	"00322372"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242579"	"00169"	"00322376"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242580"	"00169"	"00322404"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242581"	"05296"	"00322409"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242582"	"05296"	"00322430"	"03879"	"-"	""	"Osteogenesis imperfecta type 4, subtype B,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242583"	"05296"	"00322443"	"03855"	"-"	""	"Osteogenesis imperfecta Type 2, subtype A,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242584"	"05296"	"00322444"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242585"	"05296"	"00322448"	"00085"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242586"	"05296"	"00322531"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242587"	"05296"	"00322532"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242588"	"05296"	"00322571"	"03879"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242589"	"05296"	"00322572"	"03879"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242590"	"05296"	"00322573"	"03879"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242591"	"00169"	"00322586"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242592"	"00198"	"00322617"	"03855"	"-"	""	"Low bone mineral density,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242593"	"05296"	"00322632"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242594"	"05296"	"00322633"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242595"	"05296"	"00322642"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242596"	"05296"	"00322644"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242597"	"05296"	"00322662"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242598"	"05296"	"00322672"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242599"	"05296"	"00322673"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242600"	"00169"	"00322674"	"01819"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242601"	"00169"	"00322732"	"00085"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242602"	"05296"	"00322738"	"00085"	"-"	""	"Osteogenesis imperfecta X-linked,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242603"	"05296"	"00322740"	"00085"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242604"	"05296"	"00322747"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242605"	"05296"	"00322752"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype C (rare),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242606"	"00169"	"00322758"	"01819"	"-"	""	"Osteogenesis imperfecta/Ehlers-Danlos syndrome overlap,"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242607"	"05296"	"00322770"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242608"	"05296"	"00322773"	"00085"	"-"	""	"Osteogenesis imperfecta Type 2, subtype C (rare),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242609"	"05296"	"00322803"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242610"	"05296"	"00322806"	"00085"	"-"	""	"Osteogenesis imperfacta Type 1, subtype B (absence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000242611"	"05296"	"00322819"	"03879"	"-"	""	"Osteogenesis imperfecta Type 1, subtype A (presence of dentinogenesis imperfecta),"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000245706"	"05296"	"00327417"	"00006"	"Unknown"	"32y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245707"	"05296"	"00327418"	"00006"	"Isolated (sporadic)"	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245708"	"05296"	"00327419"	"00006"	"Unknown"	"12y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245709"	"05296"	"00327420"	"00006"	"Isolated (sporadic)"	"3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245710"	"05296"	"00327421"	"00006"	"Unknown"	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000245711"	"05296"	"00327422"	"00006"	"Unknown"	"29y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245712"	"05296"	"00327423"	"00006"	"Isolated (sporadic)"	"5y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245713"	"05296"	"00327424"	"00006"	"Unknown"	"0y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000245714"	"05296"	"00327425"	"00006"	"Unknown"	"30y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245715"	"05296"	"00327426"	"00006"	"Unknown"	"3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245716"	"05296"	"00327427"	"00006"	"Unknown"	"9y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245717"	"05296"	"00327428"	"00006"	"Isolated (sporadic)"	"1y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-4"	"osteogenesis imperfecta"	""
"0000245718"	"05296"	"00327429"	"00006"	"Isolated (sporadic)"	"26y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245719"	"05296"	"00327430"	"00006"	"Unknown"	"3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245720"	"05296"	"00327431"	"00006"	"Unknown"	"14y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245721"	"05296"	"00327432"	"00006"	"Isolated (sporadic)"	"19y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245722"	"05296"	"00327433"	"00006"	"Unknown"	"4y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245723"	"05296"	"00327434"	"00006"	"Unknown"	"9y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245724"	"05296"	"00327435"	"00006"	"Unknown"	"14y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245725"	"05296"	"00327436"	"00006"	"Unknown"	"54y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245726"	"05296"	"00327437"	"00006"	"Unknown"	"3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245727"	"05296"	"00327438"	"00006"	"Unknown"	"5y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-1"	"osteogenesis imperfecta"	""
"0000245744"	"05296"	"00327455"	"00006"	"Unknown"	"5y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI-14"	"osteogenesis imperfecta"	""
"0000249559"	"05517"	"00331367"	"00000"	"Familial, autosomal dominant"	""	"Osteopenia, Recurent fractures"	""	""	""	""	""	""	""	""	""	""	""	""	"Osteogenesis imperfecta and decreased bone density group"	"skeletal dysplasia"	""
"0000249560"	"05517"	"00331368"	"00000"	"Familial, autosomal dominant"	""	"Osteopenia"	""	""	""	""	""	""	""	""	""	""	""	""	"Osteogenesis imperfecta and decreased bone density group"	"skeletal dysplasia"	""
"0000249561"	"05517"	"00331369"	"00000"	"Familial, autosomal dominant"	""	"Osteopenia, Recurent fractures, Tibial bowing, Bowing of the legs"	""	""	""	""	""	""	""	""	""	""	""	""	"Osteogenesis imperfecta and decreased bone density group"	"skeletal dysplasia"	""
"0000249562"	"05517"	"00331370"	"00000"	"Familial, autosomal dominant"	""	"Osteopenia , Recurrent fractures"	""	""	""	""	""	""	""	""	""	""	""	""	"Osteogenesis imperfecta and decreased bone density group"	"skeletal dysplasia"	""
"0000249563"	"05517"	"00331371"	"00000"	"Familial, autosomal dominant"	""	"Muscular hypotonia, Microcephaly, Osteopenia, Abnormal facial shape, Failure to thrive, I Yes"	""	""	""	""	""	""	""	""	""	""	""	""	"Osteogenesis imperfecta and decreased bone density group"	"skeletal dysplasia"	""
"0000254927"	"05517"	"00359654"	"00006"	"Familial, autosomal dominant"	"<0d"	"23w-fetus short limbs, narrow thorax, bell-shaped chest; anasarca cardiothoracic ration >0.5 pleural effusion"	""	""	""	""	""	""	""	""	""	""	""	""	""	"fetal skeletal dysplasia"	""
"0000254928"	"05517"	"00359655"	"00006"	"Isolated (sporadic)"	"<0d"	"20w-fetus short long bones with abnormal thorax; nuchal translucency 4.4 mm"	""	""	""	""	""	""	""	""	""	""	""	""	""	"fetal skeletal dysplasia"	""
"0000269338"	"00198"	"00374127"	"00006"	"Unknown"	"<0d"	"30w-fetus, ultrasound intrauterine growth retardation, shortened long bones; autopsy facial dysmorphism, shortening of the long bones, narrow thorax"	""	""	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital abnormalities"	""
"0000272300"	"05879"	"00377137"	"01164"	"Unknown"	"26y"	"Joint hypermobility, striae"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000279722"	"05296"	"00385919"	"00006"	"Familial, autosomal dominant"	"47y"	"osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000281249"	"05296"	"00320472"	"03894"	"Unknown"	""	"mild phenotype with typical hearing loss, classified as type I OI"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	""	""
"0000281250"	"05296"	"00321353"	"03894"	"Familial, autosomal dominant"	""	"father OI1 patient with blue sclerae and history of four fractures in childhood; mother no obvious symptoms except significantly low bone mineral density"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000281251"	"05296"	"00323796"	"03894"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000281252"	"05296"	"00323315"	"03894"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000286637"	"05296"	"00393431"	"01164"	"Isolated (sporadic)"	""	"Premature birth, Intrauterine growth retardation, Severe intrauterine growth retardation, Muscular hypotonia, Respiratory insufficiency, Pathologic fracture, Abnormality of the fontanelles or cranial sutures, Large fontanelles, Widely patent sagittal suture, Increased susceptibility to fractures, Abnormality of long bone morphology, Abnormality of femur morphology, Abnormality of tibia morphology, Hypoplasia of the corpus callosum"	""	""	""	""	""	""	""	""	""	""	""	""	""	"0y"	""
"0000290493"	"05296"	"00397354"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-I"	"osteogenesis imperfecta"	""
"0000290495"	"05296"	"00397356"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-I"	"osteogenesis imperfecta"	""
"0000290496"	"05296"	"00397357"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-I"	"osteogenesis imperfecta"	""
"0000290497"	"05296"	"00397358"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-I"	"osteogenesis imperfecta"	""
"0000290498"	"05296"	"00397359"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-I"	"osteogenesis imperfecta"	""
"0000290499"	"05296"	"00397360"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-I"	"osteogenesis imperfecta"	""
"0000290500"	"05296"	"00397361"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-I"	"osteogenesis imperfecta"	""
"0000290501"	"05296"	"00397362"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-III"	"osteogenesis imperfecta"	""
"0000290504"	"05296"	"00397365"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-III"	"osteogenesis imperfecta"	""
"0000290508"	"05296"	"00397369"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-IV"	"osteogenesis imperfecta"	""
"0000290509"	"05296"	"00397370"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-IV"	"osteogenesis imperfecta"	""
"0000290510"	"05296"	"00397371"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-IV"	"osteogenesis imperfecta"	""
"0000290513"	"05296"	"00397374"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-IV"	"osteogenesis imperfecta"	""
"0000290515"	"05296"	"00397376"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-IV"	"osteogenesis imperfecta"	""
"0000290517"	"05296"	"00397378"	"00006"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	"OI-IV"	"osteogenesis imperfecta"	""
"0000292406"	"05296"	"00399289"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000292407"	"05296"	"00399290"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000292409"	"05296"	"00399292"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000305417"	"00169"	"00413444"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Ehlers-Danlos syndrome"	""
"0000305418"	"00169"	"00413445"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Ehlers-Danlos syndrome"	""
"0000305419"	"00169"	"00413446"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Ehlers-Danlos syndrome"	""
"0000305420"	"00169"	"00413447"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Ehlers-Danlos syndrome"	""
"0000308529"	"00198"	"00417019"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"COL1-related overlap disorder"	""
"0000308530"	"00198"	"00417020"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"COL1-related overlap disorder"	""
"0000308538"	"00198"	"00417028"	"02544"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308543"	"00198"	"00417033"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"COL1-related overlap disorder"	""
"0000308572"	"00198"	"00417062"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308581"	"00198"	"00417071"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308591"	"00198"	"00417081"	"02544"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308598"	"00198"	"00417088"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308600"	"05296"	"00417090"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308601"	"05296"	"00417091"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308603"	"05296"	"00417093"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308606"	"00198"	"00417096"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308607"	"05296"	"00417097"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308609"	"00198"	"00417099"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308611"	"05296"	"00417101"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308623"	"05296"	"00417113"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308624"	"05296"	"00417114"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308635"	"05296"	"00417125"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308641"	"05296"	"00417131"	"02544"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308644"	"05296"	"00417134"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308647"	"05296"	"00417137"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308649"	"05296"	"00417139"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308653"	"05296"	"00417143"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308656"	"05296"	"00417146"	"02544"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308663"	"00198"	"00417153"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"soft connective tissue disorder"	""
"0000308664"	"05296"	"00417154"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000308667"	"05296"	"00417157"	"02544"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000309865"	"05369"	"00418529"	"00006"	"Familial, autosomal recessive"	"22y"	"hypotonia; normal developmental milestones; poor feeder; height 140.8 cm (-4.9 SD); moderate rhizomelia upper and lower limbs; OFC 50-75th; mild kyphosis, mid-thoracic; broad thumb; no acromelia; triangular face (when younger); multiple Wormian bones; normal palate; platyspondyly; metaphyseal changes; slender bones with thin cortices, mild bowing femur, small irregular femoral heads; multiple fractures (arm as infant, wrist aged 8y, wedge T6 vertebra), blue sclerae"	"00y08m"	""	""	""	""	""	"poor weight gain, unusual limb proportions, hypotonia, large head"	""	""	""	""	""	""	"spondylometaphyseal dysplasia"	""
"0000309868"	"05296"	"00418529"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis Imperfecta type 1"	""
"0000310777"	"00198"	"00419496"	"02300"	"Isolated (sporadic)"	"24y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"skeletal and/or connective tissue abnormality"	""
"0000310778"	"00198"	"00419497"	"02300"	"Isolated (sporadic)"	"4m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"skeletal and/or connective tissue abnormality"	""
"0000310779"	"00198"	"00419498"	"02300"	"Isolated (sporadic)"	"4y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"skeletal and/or connective tissue abnormality"	""
"0000310891"	"00198"	"00419610"	"02300"	"Isolated (sporadic)"	"40y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"skeletal and/or connective tissue abnormality"	""
"0000318795"	"05296"	"00427822"	"03145"	"Isolated (sporadic)"	""	"hypoplastic long bones of the extremities, poorly ossified skull, and unrevealing nasal bones, and the fetus had generalized subcutaneous edema."	""	""	""	""	""	""	"Hydrops fetalis"	""	""	""	""	""	""	""	""
"0000318818"	"05296"	"00427873"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318819"	"05296"	"00427874"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI IV"	""
"0000318820"	"05296"	"00427875"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318821"	"05296"	"00427876"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318822"	"05296"	"00427877"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318823"	"05296"	"00427878"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI IV"	""
"0000318824"	"05296"	"00427879"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318825"	"05296"	"00427880"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318826"	"05296"	"00427881"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318827"	"05296"	"00427882"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318828"	"05296"	"00427883"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318829"	"05296"	"00427884"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318830"	"05296"	"00427885"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318831"	"05296"	"00427886"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318832"	"05296"	"00427887"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318833"	"05296"	"00427888"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI IV "	""
"0000318834"	"05296"	"00427889"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318835"	"05296"	"00427890"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318836"	"05296"	"00427891"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318837"	"05296"	"00427892"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318838"	"05296"	"00427893"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318839"	"05296"	"00427894"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III "	""
"0000318840"	"05296"	"00427895"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318841"	"05296"	"00427896"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318842"	"05296"	"00427897"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318843"	"05296"	"00427898"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318844"	"05296"	"00427899"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI IV"	""
"0000318845"	"05296"	"00427900"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318846"	"05296"	"00427901"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318847"	"05296"	"00427902"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318848"	"05296"	"00427903"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318849"	"05296"	"00427904"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/SED"	""
"0000318850"	"05296"	"00427905"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318851"	"05296"	"00427906"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318852"	"05296"	"00427907"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318853"	"05296"	"00427908"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III "	""
"0000318854"	"05296"	"00427909"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318855"	"05296"	"00427910"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318856"	"05296"	"00427911"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318857"	"05296"	"00427912"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI IV"	""
"0000318858"	"05296"	"00427913"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318859"	"05296"	"00427914"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318860"	"05296"	"00427915"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI IV"	""
"0000318861"	"05296"	"00427916"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318862"	"05296"	"00427917"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI IV "	""
"0000318863"	"05296"	"00427918"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318864"	"05296"	"00427919"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I/IV"	""
"0000318865"	"05296"	"00427920"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI I"	""
"0000318866"	"05296"	"00427921"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III"	""
"0000318867"	"05296"	"00427922"	"03820"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI III "	""
"0000318996"	"00169"	"00428049"	"04419"	"Unknown"	"30y"	"Beighton score of 6, but he could not put his hands flat on the floor or bend either elbow backwards due to radial head dislocation and bone deformities"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000318997"	"05296"	"00428049"	"04419"	"Unknown"	"30y"	"Oval-shaped face, protuberant eyes and jaw, grayish-blue sclerae, and tooth loss. Severe kyphoscoliosis was present, and both radial heads were dislocated. More than 60 fractures during lifetime."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321098"	"05784"	"00430290"	"04419"	"Familial, autosomal recessive"	""	"Symptoms of the EDS type 1, including hyperextensible skin, tissue fragility, and bruised skin. A Beighton score of 5."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321759"	"00169"	"00431151"	"04305"	"Unknown"	"10y"	"Hyperelastic skin, bilateral ectropion, and blue sclerae, joint hypermobility of large and finger joints (Beighton score 7/9), scoliotic curvature of the spine,"	""	"normal"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321760"	"05296"	"00431151"	"04305"	"Unknown"	"10y"	"Severe short stature with 2 years delayed bone age. Tooth decay. Height 4 SD below target height."	""	""	""	""	""	""	""	""	""	""	""	""	""	"9y"	""
"0000321761"	"05784"	"00431152"	"04305"	"Familial"	"18y"	"Meets major criteria. Dislocation of joints, diffuse body pain."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321762"	"05784"	"00431153"	"04305"	"Familial"	"20y"	"Meets major criteria. Dislocation of joints, Family history of cEDS. IBS, Marfanoid habitus, migraines, myopia, mitral insufficiency, ADHD."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321763"	"05784"	"00431154"	"04305"	"Unknown"	""	"Meets major criteria. Delayed wound healing, dislocation of joints, arthralgias."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321946"	"05296"	"00431346"	"04465"	"Isolated (sporadic)"	"00y00m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321947"	"05296"	"00431347"	"04465"	"Isolated (sporadic)"	"00y00m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321980"	"01481"	"00431387"	"04465"	"Familial, autosomal dominant"	"30y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000321993"	"05296"	"00431418"	"04465"	"Isolated (sporadic)"	"37y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322107"	"00636"	"00431537"	"04465"	"Isolated (sporadic)"	"07y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322108"	"01481"	"00431538"	"04465"	"Unknown"	"02y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322119"	"01481"	"00431539"	"04465"	"Isolated (sporadic)"	"10y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322121"	"01481"	"00431545"	"04465"	"Unknown"	"03y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322122"	"01481"	"00431546"	"04465"	"Isolated (sporadic)"	"07y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322123"	"00635"	"00431547"	"04465"	"Isolated (sporadic)"	"04y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322124"	"01481"	"00431548"	"04465"	"Unknown"	"11y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322127"	"01481"	"00431551"	"04465"	"Unknown"	"06y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322128"	"01481"	"00431552"	"04465"	"Unknown"	"01y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322344"	"05296"	"00431776"	"04465"	"Unknown"	"18y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322354"	"00169"	"00431785"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"vascular EDS syndrome"	""
"0000322378"	"05296"	"00431809"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000322379"	"05296"	"00431810"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000322380"	"00198"	"00431811"	"04136"	"Unknown"	""	"reclassified as Stickler syndrome after molecular testing"	""	""	""	""	""	""	""	""	""	""	""	""	"STL"	"unclassified Mendelian soft connective tissue disorder"	""
"0000322382"	"05296"	"00431813"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000322383"	"05296"	"00431814"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000322384"	"05296"	"00431815"	"04136"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"osteogenesis imperfecta"	""
"0000322405"	"05296"	"00431836"	"04465"	"Isolated (sporadic)"	"15y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322636"	"01481"	"00432069"	"04465"	"Isolated (sporadic)"	"09y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322777"	"05296"	"00432210"	"04465"	"Isolated (sporadic)"	"0m0y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322778"	"05296"	"00432211"	"04465"	"Isolated (sporadic)"	"0m0y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322784"	"01481"	"00432217"	"04465"	"Familial, autosomal dominant"	"33y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322785"	"01481"	"00432218"	"04465"	"Isolated (sporadic)"	"68y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322786"	"01481"	"00432219"	"04465"	"Isolated (sporadic)"	"54y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322787"	"01481"	"00432220"	"04465"	"Familial, autosomal dominant"	"26y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322788"	"01481"	"00432221"	"04465"	"Unknown"	"09y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322789"	"01481"	"00432222"	"04465"	"Unknown"	"32y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322790"	"01481"	"00432223"	"04465"	"Familial, autosomal dominant"	"30y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322791"	"01481"	"00432224"	"04465"	"Familial, autosomal dominant"	"52y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322792"	"00636"	"00432225"	"04465"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322793"	"00636"	"00432226"	"04465"	"Familial, autosomal dominant"	"52y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322794"	"01481"	"00432227"	"04465"	"Isolated (sporadic)"	"28y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322795"	"00636"	"00432228"	"04465"	"Unknown"	"28y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322796"	"00636"	"00432229"	"04465"	"Unknown"	"12y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322797"	"01481"	"00432230"	"04465"	"Isolated (sporadic)"	"09y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322798"	"01481"	"00432231"	"04465"	"Unknown"	"17y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322938"	"01481"	"00432371"	"04465"	"Familial"	"31y"	"Frequent fractures, low bone mass, and dental caries"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322939"	"01481"	"00432372"	"04465"	"Unknown"	"60y"	"Splintered fracture of right femur once and severe osteoporosis after menostasis"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000322940"	"01481"	"00432373"	"04465"	"Familial"	"34y"	"Only low bone mass and no other typical clinical symptoms about OI"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323042"	"01481"	"00432480"	"04465"	"Isolated (sporadic)"	"05y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323043"	"01481"	"00432481"	"04465"	"Unknown"	"27y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323044"	"00635"	"00432482"	"04465"	"Isolated (sporadic)"	"06y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323045"	"01481"	"00432483"	"04465"	"Familial, autosomal dominant"	"10y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323046"	"01481"	"00432484"	"04465"	"Familial, autosomal dominant"	"36y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323093"	"01481"	"00432533"	"04465"	"Familial, autosomal dominant"	"05y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323094"	"01481"	"00432534"	"04465"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323509"	"01481"	"00432946"	"04465"	"Familial, autosomal dominant"	"59y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323916"	"05296"	"00433440"	"04465"	"Familial"	"00y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000323917"	"05296"	"00433441"	"04465"	"Familial"	"00y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000324104"	"05296"	"00433681"	"04465"	"Isolated (sporadic)"	"00y00m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000324476"	"01481"	"00434122"	"04465"	"Isolated (sporadic)"	"19y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000324477"	"01481"	"00434123"	"04465"	"Familial, autosomal dominant"	"17y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000324478"	"01481"	"00434124"	"04465"	"Familial, autosomal dominant"	"46y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325156"	"03752"	"00434910"	"04465"	"Isolated (sporadic)"	"05y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325247"	"00637"	"00435007"	"04465"	"Unknown"	"00y00m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325248"	"00637"	"00435008"	"04465"	"Unknown"	"00y00m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325249"	"00637"	"00435009"	"04465"	"Unknown"	"00y00m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325250"	"00637"	"00435010"	"04465"	"Unknown"	"00y00m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325328"	"00169"	"00435090"	"04419"	"Familial"	"30y"	"hypermobility, Beighton score of 9/9, mild high frequency hearing loss, recurrent joint dislocations."	"19y"	"high frequency"	""	""	""	""	""	""	""	""	""	""	"23y"	"EDS"	""
"0000325329"	"05296"	"00435090"	"04419"	"Familial"	""	"Mother has mild OI symptoms and was diagnosed after molecular testing."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000341569"	"05296"	"00452926"	"03544"	"Isolated (sporadic)"	""	"HP:0002757, HP:0002953, HP:0003307, HP:0002650, HP:0000592"	""	""	""	""	""	""	""	""	""	""	""	""	"OI"	"OI"	""
"0000342401"	"00152"	"00453744"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342402"	"00152"	"00453745"	"00006"	"Unknown"	""	"tricuspid valve prolapse"	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342428"	"00152"	"00453771"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000342448"	"00152"	"00453791"	"00006"	"Unknown"	""	"aortic root replacement and aortic valve replacement; large root aneurysm"	""	""	""	""	""	""	""	""	""	""	""	""	""	"bicuspid aortic valve"	""
"0000352077"	"05296"	"00466714"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352078"	"05296"	"00466715"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352079"	"05296"	"00466716"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352080"	"05296"	"00466717"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352081"	"05296"	"00466718"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352082"	"05296"	"00466719"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352083"	"05296"	"00466720"	"00006"	"Isolated (sporadic)"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352084"	"05296"	"00466721"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352085"	"05296"	"00466722"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352086"	"05296"	"00466723"	"00006"	"Familial, autosomal dominant"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352087"	"05296"	"00466724"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352088"	"05296"	"00466725"	"00006"	"Isolated (sporadic)"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352089"	"05296"	"00466726"	"00006"	"Familial, autosomal dominant"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352090"	"05296"	"00466727"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352091"	"05296"	"00466728"	"00006"	"Unknown"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352092"	"05296"	"00466729"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352093"	"05296"	"00466730"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352094"	"05296"	"00466731"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352095"	"05296"	"00466732"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352096"	"05296"	"00466733"	"00006"	"Familial, autosomal dominant"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352097"	"05296"	"00466734"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352098"	"05296"	"00466735"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352099"	"05296"	"00466736"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352100"	"05296"	"00466737"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352101"	"05296"	"00466738"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352102"	"05296"	"00466739"	"00006"	"Familial, autosomal dominant"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352103"	"05296"	"00466740"	"00006"	"Familial, autosomal dominant"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352104"	"05296"	"00466741"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352105"	"05296"	"00466742"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352106"	"05296"	"00466743"	"00006"	"Unknown"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352107"	"05296"	"00466744"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352108"	"05296"	"00466745"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352109"	"05296"	"00466746"	"00006"	"Isolated (sporadic)"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352110"	"05296"	"00466747"	"00006"	"Isolated (sporadic)"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352111"	"05296"	"00466748"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352112"	"05296"	"00466749"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352113"	"05296"	"00466750"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352114"	"05296"	"00466751"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352115"	"05296"	"00466752"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352116"	"05296"	"00466753"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352117"	"05296"	"00466754"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352118"	"05296"	"00466755"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352119"	"05296"	"00466756"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352120"	"05296"	"00466757"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352121"	"05296"	"00466758"	"00006"	"Isolated (sporadic)"	""	"OI3 progressively deforming osteogenesis imperfecta"	""	""	""	""	""	""	""	""	""	""	""	""	"OI3"	"osteogenesis imperfecta"	""
"0000352122"	"05296"	"00466759"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352123"	"05296"	"00466760"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352124"	"05296"	"00466761"	"00006"	"Isolated (sporadic)"	""	"OI2 perinatally lethal"	""	""	""	""	""	""	""	""	""	""	""	""	"OI2"	"osteogenesis imperfecta"	""
"0000352125"	"05296"	"00466762"	"00006"	"Familial, autosomal dominant"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""
"0000352126"	"05296"	"00466763"	"00006"	"Isolated (sporadic)"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352127"	"05296"	"00466764"	"00006"	"Isolated (sporadic)"	""	"OI4 common variable osteogenesis imperfecta, normal sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI4"	"osteogenesis imperfecta"	""
"0000352128"	"05296"	"00466765"	"00006"	"Isolated (sporadic)"	""	"OI1 classic non-deforming osteogenesis imperfecta, blue sclerae"	""	""	""	""	""	""	""	""	""	""	""	""	"OI1"	"osteogenesis imperfecta"	""


## Screenings ## Do not remove or alter this header ##
## Count = 2966
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050644"	"00050699"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000080074"	"00079996"	"1"	"01745"	"01745"	"2016-08-31 14:19:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000106373"	"00105902"	"1"	"02120"	"02120"	"2017-06-26 14:10:54"	""	""	"SEQ-NG-I"	"DNA"	"Fibroblasts"	""
"0000132897"	"00132059"	"1"	"01396"	"01396"	"2017-10-18 17:18:33"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000155260"	"00154400"	"1"	"01164"	"01164"	"2018-02-23 11:00:45"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000174795"	"00173905"	"1"	"01873"	"01873"	"2018-04-25 17:09:54"	""	""	"SEQ"	"DNA"	""	""
"0000232500"	"00231402"	"1"	"03235"	"03235"	"2019-05-02 03:13:49"	""	""	"SEQ"	"DNA"	""	""
"0000232501"	"00231403"	"1"	"03235"	"03235"	"2019-05-02 04:27:44"	""	""	"SEQ"	"DNA"	""	""
"0000232502"	"00231404"	"1"	"03235"	"03235"	"2019-05-02 04:38:02"	""	""	"SEQ"	"DNA"	""	""
"0000232503"	"00231405"	"1"	"03235"	"03235"	"2019-05-02 04:43:16"	""	""	"SEQ"	"DNA"	""	""
"0000232504"	"00231406"	"1"	"03235"	"03235"	"2019-05-02 04:48:43"	""	""	"SEQ"	"DNA"	""	""
"0000232505"	"00231407"	"1"	"03235"	"03235"	"2019-05-02 05:04:07"	""	""	"SEQ"	"DNA"	""	""
"0000232506"	"00231408"	"1"	"03235"	"03235"	"2019-05-02 05:08:16"	""	""	"SEQ"	"DNA"	""	""
"0000232508"	"00231409"	"1"	"03235"	"03235"	"2019-05-02 05:13:59"	""	""	"SEQ"	"DNA"	""	""
"0000232509"	"00231410"	"1"	"03235"	"03235"	"2019-05-02 05:18:35"	""	""	"SEQ"	"DNA"	""	""
"0000232510"	"00231411"	"1"	"03235"	"03235"	"2019-05-02 05:22:17"	""	""	"SEQ"	"DNA"	""	""
"0000235169"	"00234068"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235170"	"00234069"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235171"	"00234070"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235172"	"00234071"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235173"	"00234072"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235174"	"00234073"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235175"	"00234074"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235176"	"00234075"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235177"	"00234076"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235178"	"00234077"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235179"	"00234078"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235180"	"00234079"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235181"	"00234080"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235182"	"00234081"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235183"	"00234082"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235184"	"00234083"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235185"	"00234084"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235186"	"00234085"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235187"	"00234086"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235188"	"00234087"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235189"	"00234088"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235190"	"00234089"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235191"	"00234090"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235192"	"00234091"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235193"	"00234092"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235194"	"00234093"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235195"	"00234094"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235196"	"00234095"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235197"	"00234096"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235198"	"00234097"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235199"	"00234098"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235200"	"00234099"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235201"	"00234100"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235202"	"00234101"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235203"	"00234102"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235204"	"00234103"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235205"	"00234104"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235206"	"00234105"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235207"	"00234106"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235208"	"00234107"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235209"	"00234108"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235210"	"00234109"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235211"	"00234110"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235212"	"00234111"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235213"	"00234112"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235214"	"00234113"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235215"	"00234114"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235216"	"00234115"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235217"	"00234116"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235218"	"00234117"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235219"	"00234118"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235220"	"00234119"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235221"	"00234120"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235222"	"00234121"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235223"	"00234122"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235224"	"00234123"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235225"	"00234124"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235226"	"00234125"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235227"	"00234126"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235228"	"00234127"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235229"	"00234128"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235230"	"00234129"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235231"	"00234130"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235232"	"00234131"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235233"	"00234132"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235234"	"00234133"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235235"	"00234134"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235236"	"00234135"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235237"	"00234136"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235238"	"00234137"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235239"	"00234138"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235240"	"00234139"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235241"	"00234140"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235242"	"00234141"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235243"	"00234142"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235244"	"00234143"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235245"	"00234144"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235246"	"00234145"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235247"	"00234146"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235248"	"00234147"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235249"	"00234148"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235250"	"00234149"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235251"	"00234150"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235252"	"00234151"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235253"	"00234152"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235254"	"00234153"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235255"	"00234154"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235256"	"00234155"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235257"	"00234156"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235258"	"00234157"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235259"	"00234158"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235260"	"00234159"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235261"	"00234160"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235262"	"00234161"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235263"	"00234162"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235264"	"00234163"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235265"	"00234164"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235266"	"00234165"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235267"	"00234166"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235268"	"00234167"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235269"	"00234168"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235270"	"00234169"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235271"	"00234170"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235272"	"00234171"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235273"	"00234172"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235274"	"00234173"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235275"	"00234174"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235276"	"00234175"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235277"	"00234176"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235278"	"00234177"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235279"	"00234178"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235280"	"00234179"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235281"	"00234180"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235282"	"00234181"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235283"	"00234182"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235284"	"00234183"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235285"	"00234184"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235286"	"00234185"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235287"	"00234186"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235288"	"00234187"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235289"	"00234188"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235290"	"00234189"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235291"	"00234190"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235292"	"00234191"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235293"	"00234192"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235294"	"00234193"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235295"	"00234194"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235296"	"00234195"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235297"	"00234196"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235298"	"00234197"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235299"	"00234198"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235300"	"00234199"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235301"	"00234200"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235302"	"00234201"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235303"	"00234202"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235304"	"00234203"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235305"	"00234204"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235306"	"00234205"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235307"	"00234206"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235308"	"00234207"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235309"	"00234208"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235310"	"00234209"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235311"	"00234210"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235312"	"00234211"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235313"	"00234212"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235314"	"00234213"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235315"	"00234214"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235316"	"00234215"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235317"	"00234216"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235318"	"00234217"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235319"	"00234218"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235320"	"00234219"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235321"	"00234220"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235322"	"00234221"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235323"	"00234222"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235324"	"00234223"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235325"	"00234224"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235326"	"00234225"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235327"	"00234226"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235328"	"00234227"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235329"	"00234228"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235330"	"00234229"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235331"	"00234230"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235332"	"00234231"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235333"	"00234232"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235334"	"00234233"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235335"	"00234234"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235336"	"00234235"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235337"	"00234236"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235338"	"00234237"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235339"	"00234238"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235340"	"00234239"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235341"	"00234240"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235342"	"00234241"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235343"	"00234242"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235344"	"00234243"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235345"	"00234244"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235346"	"00234245"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235347"	"00234246"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235348"	"00234247"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235349"	"00234248"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235350"	"00234249"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235351"	"00234250"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235352"	"00234251"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235353"	"00234252"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235354"	"00234253"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235355"	"00234254"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235356"	"00234255"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235357"	"00234256"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235358"	"00234257"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235359"	"00234258"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235360"	"00234259"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235361"	"00234260"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235362"	"00234261"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235363"	"00234262"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235364"	"00234263"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235365"	"00234264"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235366"	"00234265"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235367"	"00234266"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235368"	"00234267"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235369"	"00234268"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235370"	"00234269"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235371"	"00234270"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235372"	"00234271"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235373"	"00234272"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235374"	"00234273"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235375"	"00234274"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235376"	"00234275"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235377"	"00234276"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235378"	"00234277"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235379"	"00234278"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235380"	"00234279"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235381"	"00234280"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235382"	"00234281"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235383"	"00234282"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235384"	"00234283"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235385"	"00234284"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235386"	"00234285"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235387"	"00234286"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235388"	"00234287"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235389"	"00234288"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235390"	"00234289"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235391"	"00234290"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235392"	"00234291"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235393"	"00234292"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235394"	"00234293"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235395"	"00234294"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235396"	"00234295"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235397"	"00234296"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235398"	"00234297"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235399"	"00234298"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235400"	"00234299"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235401"	"00234300"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235402"	"00234301"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235403"	"00234302"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235404"	"00234303"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235405"	"00234304"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235406"	"00234305"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235407"	"00234306"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235408"	"00234307"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235409"	"00234308"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235410"	"00234309"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235411"	"00234310"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000235412"	"00234311"	"1"	"00004"	"00004"	"2019-01-13 12:23:00"	""	""	"SEQ"	"DNA"	""	""
"0000261907"	"00260782"	"1"	"01864"	"01864"	"2019-08-08 02:55:28"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"blood"	"gene panel"
"0000261973"	"00260851"	"1"	"01864"	"01864"	"2019-08-09 10:44:31"	""	""	"SEQ"	"DNA"	"blood"	""
"0000262295"	"00261189"	"1"	"01864"	"01864"	"2019-08-12 08:01:47"	""	""	"SEQ"	"DNA"	"blood"	""
"0000262296"	"00261190"	"1"	"01864"	"01864"	"2019-08-12 08:20:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000262297"	"00261191"	"1"	"01864"	"01864"	"2019-08-12 08:27:12"	""	""	"SEQ"	"DNA"	"blood"	""
"0000262298"	"00261192"	"1"	"01864"	"01864"	"2019-08-12 08:33:35"	""	""	"SEQ"	"DNA"	"blood"	""
"0000262299"	"00261193"	"1"	"01864"	"01864"	"2019-08-12 08:36:19"	""	""	"SEQ"	"DNA"	"blood"	""
"0000266853"	"00265730"	"1"	"02544"	"02544"	"2019-10-02 10:37:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000266854"	"00265731"	"1"	"02544"	"02544"	"2019-10-02 10:48:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000266857"	"00265734"	"1"	"02544"	"02544"	"2019-10-02 11:03:50"	""	""	"SEQ"	"DNA"	""	""
"0000266858"	"00265735"	"1"	"02544"	"02544"	"2019-10-02 11:11:16"	""	""	"SEQ"	"DNA"	"blood"	""
"0000266859"	"00265736"	"1"	"02544"	"02544"	"2019-10-02 12:11:22"	""	""	"SEQ"	"DNA"	"blood"	""
"0000266860"	"00265737"	"1"	"02544"	"02544"	"2019-10-02 12:14:53"	""	""	"SEQ"	"DNA"	"blood"	""
"0000271088"	"00269935"	"1"	"01164"	"01164"	"2019-12-10 12:34:07"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000292948"	"00291780"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292950"	"00291782"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292951"	"00291783"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292952"	"00291784"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296911"	"00295738"	"1"	"03528"	"03528"	"2020-03-26 11:55:50"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000297496"	"00296385"	"1"	"01164"	"01164"	"2020-04-06 09:47:49"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000300861"	"00299748"	"1"	"03235"	"03235"	"2020-04-21 04:19:29"	""	""	"SEQ"	"DNA"	""	""
"0000300862"	"00299749"	"1"	"03235"	"03235"	"2020-04-21 04:42:32"	""	""	"SEQ"	"DNA"	""	""
"0000300863"	"00299750"	"1"	"03235"	"03235"	"2020-04-21 04:53:45"	""	""	"SEQ"	"DNA"	""	""
"0000300864"	"00299751"	"1"	"03235"	"03235"	"2020-04-21 05:00:23"	""	""	"SEQ"	"DNA"	""	""
"0000300865"	"00299752"	"1"	"03235"	"03235"	"2020-04-21 05:06:17"	""	""	"SEQ"	"DNA"	""	""
"0000300866"	"00299753"	"1"	"03235"	"03235"	"2020-04-21 05:12:00"	""	""	"SEQ"	"DNA"	""	""
"0000300867"	"00299754"	"1"	"03235"	"03235"	"2020-04-21 05:56:02"	""	""	"SEQ"	"DNA"	""	""
"0000300868"	"00299755"	"1"	"03235"	"03235"	"2020-04-21 06:00:45"	""	""	"SEQ"	"DNA"	""	""
"0000300869"	"00299756"	"1"	"03235"	"03235"	"2020-04-21 06:04:19"	""	""	"SEQ"	"DNA"	""	""
"0000300870"	"00299757"	"1"	"03235"	"03235"	"2020-04-21 06:07:10"	""	""	"SEQ"	"DNA"	""	""
"0000300871"	"00299758"	"1"	"03235"	"03235"	"2020-04-21 06:11:01"	""	""	"SEQ"	"DNA"	""	""
"0000300872"	"00299759"	"1"	"03235"	"03235"	"2020-04-21 08:11:16"	""	""	"SEQ"	"DNA"	""	""
"0000300874"	"00299760"	"1"	"03235"	"03235"	"2020-04-21 08:14:41"	""	""	"SEQ"	"DNA"	""	""
"0000300875"	"00299761"	"1"	"03235"	"03235"	"2020-04-21 08:23:18"	""	""	"SEQ"	"DNA"	""	""
"0000300876"	"00299762"	"1"	"03235"	"03235"	"2020-04-21 08:32:14"	""	""	"SEQ"	"DNA"	""	""
"0000300877"	"00299763"	"1"	"03235"	"03235"	"2020-04-21 08:35:30"	""	""	"SEQ"	"DNA"	""	""
"0000300878"	"00299764"	"1"	"03235"	"03235"	"2020-04-21 08:41:49"	""	""	"SEQ"	"DNA"	""	""
"0000300879"	"00299765"	"1"	"03235"	"03235"	"2020-04-21 08:45:40"	""	""	"SEQ"	"DNA"	""	""
"0000300880"	"00299766"	"1"	"03235"	"03235"	"2020-04-21 08:48:45"	""	""	"SEQ"	"DNA"	""	""
"0000300881"	"00299767"	"1"	"03235"	"03235"	"2020-04-21 08:54:35"	""	""	"SEQ"	"DNA"	""	""
"0000300882"	"00299768"	"1"	"03235"	"03235"	"2020-04-21 08:58:10"	""	""	"SEQ"	"DNA"	""	""
"0000300883"	"00299769"	"1"	"03235"	"03235"	"2020-04-21 09:02:58"	""	""	"SEQ"	"DNA"	""	""
"0000300884"	"00299770"	"1"	"03235"	"03235"	"2020-04-21 09:07:49"	""	""	"SEQ"	"DNA"	""	""
"0000300885"	"00299771"	"1"	"03235"	"03235"	"2020-04-21 09:19:33"	""	""	"SEQ"	"DNA"	""	""
"0000300886"	"00299772"	"1"	"03235"	"03235"	"2020-04-21 09:23:21"	""	""	"SEQ"	"DNA"	""	""
"0000300888"	"00299774"	"1"	"03235"	"03235"	"2020-04-21 09:44:33"	""	""	"SEQ"	"DNA"	""	""
"0000300889"	"00299775"	"1"	"03235"	"03235"	"2020-04-21 10:04:27"	""	""	"SEQ"	"DNA"	""	""
"0000300890"	"00299776"	"1"	"03235"	"03235"	"2020-04-21 10:09:11"	""	""	"SEQ"	"DNA"	""	""
"0000300891"	"00299777"	"1"	"03235"	"03235"	"2020-04-21 10:12:11"	""	""	"SEQ"	"DNA"	""	""
"0000300892"	"00299778"	"1"	"03235"	"03235"	"2020-04-21 10:25:42"	""	""	"SEQ"	"DNA"	""	""
"0000300893"	"00299779"	"1"	"03235"	"03235"	"2020-04-21 10:30:41"	""	""	"SEQ"	"DNA"	""	""
"0000300894"	"00299780"	"1"	"03235"	"03235"	"2020-04-21 11:03:12"	""	""	"SEQ"	"DNA"	""	""
"0000300895"	"00299781"	"1"	"03235"	"03235"	"2020-04-21 11:06:26"	""	""	"SEQ"	"DNA"	""	""
"0000300896"	"00299782"	"1"	"03235"	"03235"	"2020-04-21 11:10:28"	""	""	"SEQ"	"DNA"	""	""
"0000301046"	"00299930"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301047"	"00299931"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301048"	"00299932"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301049"	"00299933"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301050"	"00299934"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301051"	"00299935"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301052"	"00299936"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301053"	"00299937"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301056"	"00299940"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301057"	"00299941"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301058"	"00299942"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301059"	"00299943"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301060"	"00299944"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301061"	"00299945"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301062"	"00299946"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301063"	"00299947"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301064"	"00299948"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301065"	"00299949"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301066"	"00299950"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301067"	"00299951"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301068"	"00299952"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301069"	"00299953"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301070"	"00299954"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301071"	"00299955"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301072"	"00299956"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301073"	"00299957"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301074"	"00299958"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301075"	"00299959"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301076"	"00299960"	"1"	"03235"	"00006"	"2020-04-22 15:48:57"	""	""	"SEQ"	"DNA"	""	""
"0000301468"	"00300347"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301469"	"00300348"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301470"	"00300349"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301471"	"00300350"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301472"	"00300351"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301473"	"00300352"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301474"	"00300353"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301475"	"00300354"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301476"	"00300355"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301477"	"00300356"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301478"	"00300357"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301479"	"00300358"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301480"	"00300359"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301481"	"00300360"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301482"	"00300361"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301483"	"00300362"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301484"	"00300363"	"1"	"00006"	"00006"	"2020-05-01 16:05:35"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301506"	"00300385"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301507"	"00300386"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301508"	"00300387"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301509"	"00300388"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301510"	"00300389"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301511"	"00300390"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301512"	"00300391"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301513"	"00300392"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301514"	"00300393"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301515"	"00300394"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301516"	"00300395"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301517"	"00300396"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301518"	"00300397"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301519"	"00300398"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301520"	"00300399"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301521"	"00300400"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301522"	"00300401"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301523"	"00300402"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301524"	"00300403"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000301525"	"00300404"	"1"	"00006"	"00006"	"2020-05-01 16:46:56"	""	""	"SEQ-NG"	"DNA"	""	"targeted 14-gene panel OI"
"0000321650"	"00320461"	"1"	"00085"	"00085"	"2015-12-08 14:55:20"	"00085"	"2017-03-17 14:16:23"	"arrayCGH;SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000321651"	"00320462"	"1"	"03870"	"03870"	"2017-01-20 15:23:57"	"00085"	"2017-03-14 08:14:14"	"MLPA"	"DNA"	""	""
"0000321652"	"00320463"	"1"	"03855"	"03855"	"2009-12-30 10:17:19"	"00085"	"2012-05-18 12:50:00"	"MLPA"	"DNA"	""	""
"0000321653"	"00320464"	"1"	"03854"	"03854"	"2012-04-13 12:39:47"	"00085"	"2012-06-19 14:06:07"	"MLPA"	"DNA"	""	""
"0000321654"	"00320465"	"1"	"03854"	"03854"	"2012-04-13 12:43:36"	"00085"	"2012-06-19 14:07:38"	"MLPA"	"DNA"	""	""
"0000321655"	"00320466"	"1"	"03854"	"03854"	"2012-05-14 10:56:59"	"00085"	"2012-06-19 14:12:11"	"MLPA"	"DNA"	""	""
"0000321656"	"00320467"	"1"	"03854"	"03854"	"2012-05-14 11:05:30"	"00085"	"2012-06-20 09:13:28"	"MLPA"	"DNA"	""	""
"0000321657"	"00320468"	"1"	"03854"	"03854"	"2012-05-14 11:57:14"	"00085"	"2012-06-19 14:26:09"	"MLPA"	"DNA"	""	""
"0000321658"	"00320469"	"1"	"00085"	"00085"	"2014-08-06 09:29:36"	""	""	"arrayCGH"	"DNA"	""	""
"0000321659"	"00320470"	"1"	"00085"	"00085"	"2019-09-05 09:02:47"	""	""	"SEQ"	"DNA"	""	""
"0000321660"	"00320471"	"1"	"00085"	"00085"	"2008-06-17 14:47:54"	"00085"	"2013-03-18 15:28:35"	"FISH"	"DNA"	""	""
"0000321661"	"00320472"	"1"	"03894"	"03894"	"2018-09-27 12:54:54"	"00006"	"2021-10-30 11:43:57"	"SEQ-NG"	"DNA"	""	"WGS"
"0000321662"	"00320473"	"1"	"00085"	"00085"	"2015-12-08 13:44:09"	"00085"	"2015-12-08 14:02:54"	"?"	"DNA"	""	""
"0000321663"	"00320474"	"1"	"00085"	"00085"	"2015-12-08 14:39:32"	""	""	"?"	"DNA"	""	""
"0000321664"	"00320475"	"1"	"00085"	"00085"	"2015-12-08 15:14:19"	"00085"	"2017-03-17 14:16:43"	"arrayCGH;SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000321665"	"00320476"	"1"	"00085"	"00085"	"2015-12-08 15:29:52"	"00085"	"2017-03-17 14:17:26"	"arrayCGH;SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000321666"	"00320477"	"1"	"03894"	"03894"	"2018-09-27 13:07:17"	"00006"	"2021-10-30 11:46:52"	"arrayCGH;MLPA;PCR;SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000321667"	"00320478"	"1"	"00085"	"00085"	"2015-12-08 15:23:51"	"00085"	"2017-03-17 14:17:49"	"arrayCGH;SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000321668"	"00320479"	"1"	"00085"	"00085"	"2015-12-08 15:35:00"	"00085"	"2017-03-17 14:18:12"	"arrayCGH;SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000321669"	"00320480"	"1"	"00085"	"00085"	"2015-12-08 15:52:11"	"00085"	"2015-12-08 15:53:14"	"arrayCGH"	"DNA"	""	""
"0000321670"	"00320481"	"1"	"03897"	"03897"	"2020-04-11 16:37:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321671"	"00320482"	"1"	"03856"	"03856"	"2009-09-24 14:59:35"	"00085"	"2010-03-01 14:02:22"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000321672"	"00320483"	"1"	"03856"	"03856"	"2009-09-24 15:42:03"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000321673"	"00320484"	"1"	"03853"	"03853"	"2008-11-05 17:39:39"	"00085"	"2008-11-18 16:00:46"	"SEQ"	"DNA"	""	""
"0000321674"	"00320485"	"1"	"03870"	"03870"	"2010-03-05 16:26:32"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321675"	"00320486"	"1"	"00085"	"00085"	"2015-02-20 14:20:41"	"00085"	"2015-05-20 14:27:44"	"PCR;SEQ"	"DNA"	""	""
"0000321676"	"00320487"	"1"	"00475"	"00475"	"2010-01-11 17:05:33"	""	""	"SEQ"	"DNA"	""	""
"0000321677"	"00320488"	"1"	"03885"	"03885"	"2016-09-29 15:55:15"	"00085"	"2016-09-29 17:11:32"	"SEQ"	"DNA"	""	""
"0000321678"	"00320489"	"1"	"00085"	"00085"	"2014-08-05 14:12:03"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000321679"	"00320490"	"1"	"03894"	"03894"	"2018-09-25 12:56:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321680"	"00320491"	"1"	"00085"	"00085"	"2008-02-28 16:26:32"	"00085"	"2013-04-24 10:35:24"	"SEQ"	"DNA"	""	""
"0000321681"	"00320492"	"1"	"03870"	"03870"	"2010-09-27 16:49:31"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321682"	"00320493"	"1"	"03879"	"03879"	"2014-12-08 09:10:30"	"00085"	"2015-08-07 08:58:34"	"PCR;SEQ"	"DNA"	""	""
"0000321683"	"00320494"	"1"	"03855"	"03855"	"2009-12-18 17:12:08"	"00085"	"2009-12-21 10:49:47"	"SEQ"	"DNA"	""	""
"0000321684"	"00320495"	"1"	"00085"	"00085"	"2011-10-07 10:01:56"	"00085"	"2011-11-02 08:53:35"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000321685"	"00320496"	"1"	"03856"	"03856"	"2009-09-28 10:43:02"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000321686"	"00320497"	"1"	"00085"	"00085"	"2016-02-19 14:05:32"	""	""	"SEQ"	"DNA"	""	""
"0000321687"	"00320498"	"1"	"03891"	"03891"	"2018-06-14 15:20:34"	""	""	"SEQ"	"DNA"	""	""
"0000321688"	"00320499"	"1"	"00085"	"00085"	"2008-07-11 16:38:34"	"00085"	"2012-03-07 16:56:32"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321689"	"00320500"	"1"	"03870"	"03870"	"2017-01-20 16:22:37"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321690"	"00320501"	"1"	"00085"	"00085"	"2018-01-18 12:47:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321691"	"00320502"	"1"	"00085"	"00085"	"2018-01-19 08:46:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321692"	"00320503"	"1"	"03894"	"03894"	"2018-09-27 10:12:12"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000321693"	"00320504"	"1"	"00085"	"00085"	"2019-05-23 15:26:43"	"00085"	"2019-08-29 12:02:02"	"SEQ-NG"	"DNA"	""	""
"0000321694"	"00320505"	"1"	"00085"	"00085"	"2016-07-26 14:29:52"	"00085"	"2016-07-26 15:35:24"	"PCR;SEQ"	"DNA"	""	""
"0000321695"	"00320506"	"1"	"00085"	"00085"	"2008-07-28 16:07:29"	"00085"	"2012-03-07 16:57:20"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321696"	"00320507"	"1"	"00085"	"00085"	"2015-03-10 09:43:28"	"00085"	"2016-02-16 13:46:14"	"PCR;SEQ;arraySEQ"	"DNA"	""	""
"0000321697"	"00320508"	"1"	"03894"	"03894"	"2018-09-27 13:47:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321698"	"00320509"	"1"	"00085"	"00085"	"2014-12-03 16:35:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321699"	"00320510"	"1"	"03854"	"03854"	"2012-05-14 12:02:58"	""	""	"MLPA"	"DNA"	""	""
"0000321700"	"00320511"	"1"	"03879"	"03879"	"2014-12-08 16:20:51"	"00085"	"2015-08-07 14:19:11"	"PCR;SEQ"	"DNA"	""	""
"0000321701"	"00320512"	"1"	"03870"	"03870"	"2017-02-16 10:33:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321702"	"00320513"	"1"	"03870"	"03870"	"2017-02-16 10:35:30"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321703"	"00320514"	"1"	"00085"	"00085"	"2016-06-14 13:21:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321705"	"00320516"	"1"	"03894"	"03894"	"2018-09-26 13:12:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321707"	"00320518"	"1"	"03870"	"03870"	"2017-02-16 10:37:53"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321708"	"00320519"	"1"	"03870"	"03870"	"2017-02-16 10:39:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321709"	"00320520"	"1"	"02091"	"02091"	"2016-02-01 22:11:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000321710"	"00320521"	"1"	"03894"	"03894"	"2018-09-25 02:43:50"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321711"	"00320522"	"1"	"03894"	"03894"	"2018-09-26 12:31:42"	"03894"	"2018-09-28 08:10:09"	"PCR;SEQ"	"DNA"	""	""
"0000321712"	"00320523"	"1"	"00085"	"00085"	"2009-02-26 11:35:58"	"00085"	"2012-03-12 13:26:33"	"PCR;SEQ"	"DNA"	""	""
"0000321713"	"00320524"	"1"	"03894"	"03894"	"2018-09-27 08:27:38"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321714"	"00320525"	"1"	"03894"	"03894"	"2018-09-26 13:28:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321715"	"00320526"	"1"	"00085"	"00085"	"2011-06-17 13:29:41"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321716"	"00320527"	"1"	"00085"	"00085"	"2016-06-14 13:24:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321717"	"00320528"	"1"	"03882"	"00085"	"2016-06-03 08:29:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321718"	"00320529"	"1"	"00085"	"00085"	"2016-08-01 09:55:47"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000321719"	"00320530"	"1"	"01819"	"01819"	"2016-11-28 13:20:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321723"	"00320534"	"1"	"00085"	"00085"	"2016-06-14 10:52:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321724"	"00320535"	"1"	"03870"	"03870"	"2009-07-30 10:03:57"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321725"	"00320536"	"1"	"03894"	"03894"	"2018-09-27 12:43:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321726"	"00320537"	"1"	"00085"	"00085"	"2019-08-16 15:42:06"	"00085"	"2019-08-23 15:56:47"	"SEQ"	"DNA"	""	""
"0000321727"	"00320538"	"1"	"00085"	"00085"	"2008-05-02 15:58:37"	"00085"	"2012-03-12 13:07:37"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321728"	"00320539"	"1"	"03894"	"03894"	"2018-09-27 13:53:54"	"00006"	"2021-10-30 10:44:54"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000321729"	"00320540"	"1"	"00085"	"00085"	"2019-08-20 10:28:50"	"00085"	"2019-08-22 13:06:09"	"SEQ"	"DNA"	""	""
"0000321730"	"00320541"	"1"	"03894"	"03894"	"2018-09-26 12:16:39"	"03894"	"2018-09-28 08:11:23"	"PCR;SEQ"	"DNA"	""	""
"0000321731"	"00320542"	"1"	"03855"	"03855"	"2010-01-05 15:26:21"	"00085"	"2010-03-30 13:42:36"	"SEQ"	"DNA"	""	""
"0000321732"	"00320543"	"1"	"03853"	"03853"	"2009-12-18 15:15:52"	""	""	"SEQ"	"DNA"	""	""
"0000321734"	"00320545"	"1"	"00085"	"00085"	"2011-06-17 13:33:32"	"00085"	"2011-06-17 13:36:11"	"PCR;SEQ"	"DNA"	""	""
"0000321735"	"00320546"	"1"	"03894"	"03894"	"2018-09-27 10:57:28"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000321736"	"00320547"	"1"	"00085"	"00085"	"2018-01-19 14:18:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321737"	"00320548"	"1"	"00475"	"00475"	"2010-01-11 17:13:07"	""	""	"SEQ"	"DNA"	""	""
"0000321738"	"00320549"	"1"	"03855"	"03855"	"2009-12-29 12:50:29"	""	""	"SEQ"	"DNA"	""	""
"0000321739"	"00320550"	"1"	"03894"	"03894"	"2018-09-25 14:33:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321740"	"00320551"	"1"	"03870"	"03870"	"2009-10-02 15:15:12"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321741"	"00320552"	"1"	"03855"	"03855"	"2009-12-29 12:43:31"	"00085"	"2010-03-30 15:48:17"	"SEQ"	"DNA"	""	""
"0000321742"	"00320553"	"1"	"03870"	"03870"	"2017-02-16 10:42:39"	""	""	"SEQ"	"DNA"	""	""
"0000321743"	"00320554"	"1"	"03897"	"00085"	"2019-08-29 12:51:36"	""	""	"SEQ"	"DNA"	""	""
"0000321744"	"00320555"	"1"	"03870"	"03870"	"2017-02-21 09:07:04"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321745"	"00320556"	"1"	"00085"	"00085"	"2008-05-02 16:26:30"	"00085"	"2012-03-12 13:22:46"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321746"	"00320557"	"1"	"00085"	"00085"	"2008-05-02 16:28:26"	"00085"	"2012-03-12 13:24:17"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321747"	"00320558"	"1"	"03894"	"03894"	"2018-09-25 13:06:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321748"	"00320559"	"1"	"00085"	"00085"	"2011-06-17 13:38:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321749"	"00320560"	"1"	"03704"	"00085"	"2008-07-28 16:26:19"	"00085"	"2012-03-12 13:28:04"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000321750"	"00320561"	"1"	"03894"	"03894"	"2018-09-27 12:01:41"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321751"	"00320562"	"1"	"00085"	"00085"	"2008-07-28 16:31:26"	"00085"	"2012-03-12 13:29:09"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321752"	"00320563"	"1"	"03879"	"03879"	"2014-12-05 08:04:16"	"00085"	"2015-08-07 14:19:25"	"PCR;SEQ"	"DNA"	""	""
"0000321753"	"00320564"	"1"	"03879"	"03879"	"2014-12-05 08:21:17"	"00085"	"2015-08-07 14:20:00"	"PCR;SEQ"	"DNA"	""	""
"0000321754"	"00320565"	"1"	"00085"	"00085"	"2015-12-09 09:49:55"	"00085"	"2015-12-09 09:50:30"	"PCR;SEQ"	"DNA"	""	""
"0000321755"	"00320566"	"1"	"00085"	"00085"	"2008-07-28 16:37:51"	"00085"	"2012-03-12 13:30:00"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321756"	"00320567"	"1"	"03897"	"03897"	"2020-04-11 18:38:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321757"	"00320568"	"1"	"03885"	"03885"	"2016-09-29 16:48:52"	"03885"	"2016-10-06 18:04:52"	"SEQ-NG"	"DNA"	""	""
"0000321758"	"00320569"	"1"	"03894"	"03894"	"2018-09-27 11:49:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321759"	"00320570"	"1"	"03870"	"03870"	"2017-02-21 09:10:15"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000321760"	"00320571"	"1"	"03870"	"03870"	"2017-02-21 09:11:50"	""	""	"SEQ"	"DNA"	""	""
"0000321761"	"00320572"	"1"	"00085"	"00085"	"2011-06-17 13:53:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321762"	"00320573"	"1"	"03894"	"03894"	"2018-09-27 13:46:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321763"	"00320574"	"1"	"03897"	"03897"	"2020-04-11 18:30:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321764"	"00320575"	"1"	"00085"	"00085"	"2008-05-06 10:28:31"	"00085"	"2012-03-12 13:20:50"	"PCR;SEQ"	"DNA"	""	""
"0000321765"	"00320576"	"1"	"00475"	"00475"	"2010-01-11 17:18:17"	""	""	"SEQ"	"DNA"	""	""
"0000321766"	"00320577"	"1"	"03870"	"03870"	"2010-04-19 15:37:22"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321767"	"00320578"	"1"	"03870"	"03870"	"2017-02-21 09:13:37"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321768"	"00320579"	"1"	"03894"	"03894"	"2018-09-25 14:22:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321769"	"00320580"	"1"	"00085"	"00085"	"2008-05-06 10:22:33"	"00085"	"2012-03-12 13:31:10"	"PCR;SEQ"	"DNA"	""	""
"0000321770"	"00320581"	"1"	"03870"	"03870"	"2008-10-27 14:56:30"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321771"	"00320582"	"1"	"03870"	"03870"	"2008-11-07 13:35:44"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321772"	"00320583"	"1"	"03855"	"03855"	"2009-12-29 12:52:12"	""	""	"SEQ"	"DNA"	""	""
"0000321773"	"00320584"	"1"	"00085"	"00085"	"2015-12-09 10:46:23"	"00085"	"2015-12-09 10:47:42"	"PCR;SEQ"	"DNA"	""	""
"0000321774"	"00320585"	"1"	"03870"	"03870"	"2017-02-21 09:15:07"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000321775"	"00320586"	"1"	"03870"	"03870"	"2017-02-21 09:16:52"	""	""	"SEQ"	"DNA"	""	""
"0000321776"	"00320587"	"1"	"00085"	"00085"	"2008-05-06 10:38:34"	"00085"	"2012-03-12 13:32:34"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321777"	"00320588"	"1"	"03870"	"03870"	"2008-10-23 09:25:13"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321778"	"00320589"	"1"	"00085"	"00085"	"2015-12-09 14:55:05"	"00085"	"2015-12-09 14:55:24"	"PCR;SEQ"	"DNA"	""	""
"0000321779"	"00320590"	"1"	"00085"	"00085"	"2016-06-14 13:31:56"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321780"	"00320591"	"1"	"00085"	"00085"	"2016-08-01 09:26:17"	"00085"	"2016-08-01 09:34:48"	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000321781"	"00320592"	"1"	"00085"	"00085"	"2008-05-08 13:40:23"	"00085"	"2012-03-12 13:41:03"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321782"	"00320593"	"1"	"03870"	"03870"	"2017-02-22 08:43:16"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321783"	"00320594"	"1"	"03894"	"03894"	"2018-09-27 11:50:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321784"	"00320595"	"1"	"00085"	"00085"	"2011-04-14 14:04:31"	"00085"	"2012-07-10 15:05:57"	"?"	"?"	""	""
"0000321785"	"00320596"	"1"	"00085"	"00085"	"2008-05-06 10:44:33"	"00085"	"2012-03-12 13:42:38"	"PCR;SEQ"	"DNA"	""	""
"0000321786"	"00320597"	"1"	"03870"	"03870"	"2010-10-06 16:25:24"	"00085"	"2013-04-22 10:54:07"	"DHPLC;SEQ"	"DNA"	""	""
"0000321787"	"00320598"	"1"	"03879"	"03879"	"2014-12-08 13:46:53"	"00085"	"2015-08-07 14:20:46"	"PCR;SEQ"	"DNA"	""	""
"0000321788"	"00320599"	"1"	"03879"	"03879"	"2014-12-08 13:48:02"	"00085"	"2015-08-07 14:21:24"	"PCR;SEQ"	"DNA"	""	""
"0000321789"	"00320600"	"1"	"03894"	"03894"	"2018-09-27 13:26:40"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321791"	"00320602"	"1"	"03704"	"00085"	"2009-02-13 16:07:39"	"00085"	"2012-03-12 13:44:34"	"PCR;SEQ"	"DNA"	""	""
"0000321792"	"00320603"	"1"	"03853"	"03853"	"2008-11-05 17:46:39"	"00085"	"2008-11-18 16:17:31"	"SEQ"	"DNA"	""	""
"0000321793"	"00320604"	"1"	"00085"	"00085"	"2011-06-17 14:22:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321794"	"00320605"	"1"	"00085"	"00085"	"2015-12-09 09:55:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321795"	"00320606"	"1"	"03855"	"03855"	"2009-12-29 11:29:53"	""	""	"SEQ"	"DNA"	""	""
"0000321796"	"00320607"	"1"	"03894"	"03894"	"2018-09-25 14:19:01"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321798"	"00320609"	"1"	"03885"	"03885"	"2016-09-29 17:00:15"	""	""	"SEQ"	"DNA"	""	""
"0000321799"	"00320610"	"1"	"03879"	"03879"	"2014-12-02 11:19:14"	"00085"	"2015-08-07 14:22:07"	"PCR"	"DNA"	""	""
"0000321800"	"00320611"	"1"	"03879"	"03879"	"2014-12-03 09:16:49"	"00085"	"2015-08-07 14:23:05"	"PCR"	"DNA"	""	""
"0000321801"	"00320612"	"1"	"03879"	"03879"	"2014-12-05 08:56:36"	"00085"	"2015-08-07 14:24:23"	"PCR;SEQ"	"DNA"	""	""
"0000321802"	"00320613"	"1"	"03879"	"03879"	"2014-12-08 11:29:47"	"00085"	"2015-08-07 14:25:02"	"PCR;SEQ"	"DNA"	""	""
"0000321803"	"00320614"	"1"	"03704"	"00085"	"2008-05-06 10:51:41"	"00085"	"2012-03-12 13:47:51"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000321804"	"00320615"	"1"	"03897"	"03897"	"2020-03-26 14:11:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321805"	"00320616"	"1"	"00085"	"00085"	"2016-08-04 14:49:00"	"00085"	"2016-08-04 14:49:35"	"PCR;SEQ"	"DNA"	""	""
"0000321806"	"00320617"	"1"	"00085"	"00085"	"2009-03-04 11:54:18"	"00085"	"2012-03-12 13:52:05"	"PCR;SEQ"	"DNA"	""	""
"0000321807"	"00320618"	"1"	"03870"	"03870"	"2017-02-22 08:50:41"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321808"	"00320619"	"1"	"03870"	"03870"	"2017-02-22 08:51:59"	""	""	"SEQ"	"DNA"	""	""
"0000321809"	"00320620"	"1"	"00085"	"00085"	"2008-07-28 16:44:04"	"00085"	"2012-07-31 16:45:55"	"PCR;SEQ"	"DNA"	""	""
"0000321810"	"00320621"	"1"	"00085"	"00085"	"2018-06-29 08:27:08"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000321811"	"00320622"	"1"	"03885"	"03885"	"2016-09-29 17:06:48"	"03885"	"2016-10-06 18:05:25"	"SEQ-NG"	"DNA"	""	""
"0000321812"	"00320623"	"1"	"03870"	"03870"	"2017-02-22 08:54:17"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321813"	"00320624"	"1"	"00085"	"00085"	"2008-07-11 16:08:41"	"00085"	"2012-07-31 16:46:41"	"CSGE;SEQ"	"DNA"	""	""
"0000321814"	"00320625"	"1"	"00085"	"00085"	"2012-04-16 11:50:25"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321815"	"00320626"	"1"	"03704"	"00085"	"2008-07-28 14:51:07"	"00085"	"2012-07-31 16:47:35"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321816"	"00320627"	"1"	"00085"	"00085"	"2008-07-28 16:52:56"	"00085"	"2012-07-31 16:50:53"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321817"	"00320628"	"1"	"03854"	"03854"	"2012-05-14 12:06:39"	"00085"	"2012-05-24 14:00:18"	"MLPA"	"DNA"	""	""
"0000321818"	"00320629"	"1"	"00085"	"00085"	"2015-12-09 14:59:07"	"00085"	"2015-12-09 14:59:46"	"PCR;SEQ"	"DNA"	""	""
"0000321819"	"00320630"	"1"	"03870"	"03870"	"2017-02-22 08:56:18"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321821"	"00320632"	"1"	"03897"	"03897"	"2020-04-11 11:30:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321822"	"00320633"	"1"	"03897"	"00085"	"2019-08-28 16:47:14"	""	""	"SEQ"	"DNA"	""	""
"0000321823"	"00320634"	"1"	"03870"	"03870"	"2010-05-31 15:55:55"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321824"	"00320635"	"1"	"03870"	"03870"	"2017-02-23 12:34:13"	""	""	"SEQ"	"DNA"	""	""
"0000321825"	"00320636"	"1"	"03870"	"03870"	"2017-02-23 12:35:33"	""	""	"SEQ"	"DNA"	""	""
"0000321826"	"00320637"	"1"	"00085"	"00085"	"2015-10-07 15:38:43"	""	""	"SEQ-NG"	"DNA"	""	""
"0000321827"	"00320638"	"1"	"03872"	"03872"	"2014-11-02 12:08:42"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000321828"	"00320639"	"1"	"03879"	"03879"	"2014-12-09 12:52:46"	"00085"	"2015-08-07 14:25:41"	"PCR;SEQ"	"DNA"	""	""
"0000321829"	"00320640"	"1"	"00085"	"00085"	"2008-05-06 10:55:28"	"00085"	"2012-07-10 13:53:43"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321830"	"00320641"	"1"	"00085"	"00085"	"2014-10-20 09:22:38"	"00085"	"2014-10-20 09:24:00"	"PCR;SEQ"	"DNA"	""	""
"0000321831"	"00320642"	"1"	"00085"	"00085"	"2008-07-29 09:28:45"	"00085"	"2012-07-31 16:48:58"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321832"	"00320643"	"1"	"00085"	"00085"	"2008-07-29 09:35:09"	"00085"	"2012-07-31 16:49:51"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321833"	"00320644"	"1"	"03870"	"03870"	"2017-02-23 12:38:36"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321834"	"00320645"	"1"	"01819"	"01819"	"2011-09-21 14:11:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321835"	"00320646"	"1"	"03855"	"03855"	"2009-12-29 13:30:43"	""	""	"SEQ"	"DNA"	""	""
"0000321836"	"00320647"	"1"	"03872"	"03872"	"2015-03-07 14:40:22"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000321837"	"00320648"	"1"	"03855"	"03855"	"2009-12-29 13:33:05"	""	""	"SEQ"	"DNA"	""	""
"0000321839"	"00320650"	"1"	"01819"	"01819"	"2011-09-19 14:38:58"	"00085"	"2013-05-23 13:05:29"	"PCR"	"DNA"	""	""
"0000321840"	"00320651"	"1"	"03879"	"03879"	"2014-12-09 13:01:18"	"00085"	"2015-08-07 14:26:18"	"PCR;SEQ"	"DNA"	""	""
"0000321841"	"00320652"	"1"	"00085"	"00085"	"2008-02-28 14:55:59"	"00085"	"2013-02-13 14:31:46"	"SEQ"	"RNA"	""	""
"0000321842"	"00320653"	"1"	"00085"	"00085"	"2008-02-26 14:07:29"	"00085"	"2014-01-14 09:33:41"	"SEQ;SSCA"	"RNA"	""	""
"0000321843"	"00320654"	"1"	"03704"	"00085"	"2008-02-26 14:44:22"	"00085"	"2012-07-31 16:54:58"	"?"	"?"	""	""
"0000321845"	"00320656"	"1"	"03870"	"03870"	"2010-06-25 14:17:40"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321846"	"00320657"	"1"	"00085"	"00085"	"2008-05-06 10:59:51"	"00085"	"2011-08-30 08:23:26"	"PCR;SEQ"	"DNA"	""	""
"0000321847"	"00320658"	"1"	"03870"	"03870"	"2008-10-27 15:11:30"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321848"	"00320659"	"1"	"00085"	"00085"	"2009-04-21 11:47:42"	"00085"	"2011-08-30 08:22:43"	"PCR;SEQ"	"DNA"	""	""
"0000321849"	"00320660"	"1"	"00475"	"00475"	"2010-01-11 17:59:59"	""	""	"SEQ"	"DNA"	""	""
"0000321850"	"00320661"	"1"	"00475"	"00475"	"2010-01-11 18:01:25"	""	""	"SEQ"	"DNA"	""	""
"0000321851"	"00320662"	"1"	"03862"	"03862"	"2011-02-03 08:18:24"	"00085"	"2012-08-01 11:42:59"	"SEQ"	"DNA"	""	""
"0000321852"	"00320663"	"1"	"00085"	"00085"	"2011-06-17 14:24:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321853"	"00320664"	"1"	"03870"	"03870"	"2011-08-29 12:16:19"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321854"	"00320665"	"1"	"00085"	"00085"	"2011-11-02 10:22:01"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000321855"	"00320666"	"1"	"03870"	"03870"	"2012-02-10 09:55:01"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321856"	"00320667"	"1"	"03879"	"03879"	"2014-12-03 10:58:10"	"00085"	"2015-08-07 14:27:00"	"PCR"	"DNA"	""	""
"0000321857"	"00320668"	"1"	"03879"	"03879"	"2014-12-05 14:23:53"	"00085"	"2015-08-07 14:27:37"	"PCR;SEQ"	"DNA"	""	""
"0000321858"	"00320669"	"1"	"03879"	"03879"	"2014-12-08 13:35:32"	"00085"	"2015-08-07 14:28:13"	"PCR;SEQ"	"DNA"	""	""
"0000321859"	"00320670"	"1"	"03879"	"03879"	"2014-12-08 13:36:23"	"00085"	"2015-08-07 14:28:47"	"PCR;SEQ"	"DNA"	""	""
"0000321860"	"00320671"	"1"	"03879"	"03879"	"2014-12-08 13:37:14"	"00085"	"2015-08-07 14:29:21"	"PCR;SEQ"	"DNA"	""	""
"0000321861"	"00320672"	"1"	"03879"	"03879"	"2014-12-08 13:39:47"	"00085"	"2015-08-07 14:30:47"	"PCR;SEQ"	"DNA"	""	""
"0000321862"	"00320673"	"1"	"03879"	"03879"	"2014-12-08 13:40:37"	"00085"	"2015-08-07 14:31:19"	"PCR;SEQ"	"DNA"	""	""
"0000321863"	"00320674"	"1"	"03879"	"03879"	"2014-12-08 13:42:24"	"00085"	"2015-08-07 14:31:54"	"PCR;SEQ"	"DNA"	""	""
"0000321864"	"00320675"	"1"	"00085"	"00085"	"2015-12-09 15:04:29"	"00085"	"2015-12-09 15:05:22"	"PCR;SEQ"	"DNA"	""	""
"0000321865"	"00320676"	"1"	"03870"	"03870"	"2017-02-22 09:05:14"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321866"	"00320677"	"1"	"03870"	"03870"	"2017-02-22 09:06:27"	""	""	"SEQ"	"DNA"	""	""
"0000321867"	"00320678"	"1"	"03870"	"03870"	"2017-05-26 14:12:12"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321868"	"00320679"	"1"	"00085"	"00085"	"2018-08-03 08:57:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321869"	"00320680"	"1"	"00085"	"00085"	"2019-08-30 13:57:32"	""	""	"SEQ"	"DNA"	""	""
"0000321870"	"00320681"	"1"	"03897"	"03897"	"2020-03-26 14:13:51"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321871"	"00320682"	"1"	"01819"	"01819"	"2011-09-21 12:45:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321872"	"00320683"	"1"	"00085"	"00085"	"2008-02-29 08:54:28"	"00085"	"2012-07-31 16:56:14"	"SEQ"	"DNA"	""	""
"0000321873"	"00320684"	"1"	"00085"	"00085"	"2017-03-16 13:36:16"	""	""	"SEQ-NG"	"DNA"	""	""
"0000321874"	"00320685"	"1"	"03870"	"03870"	"2010-10-08 13:33:56"	"00085"	"2013-04-22 10:55:22"	"DHPLC;SEQ"	"DNA"	""	""
"0000321875"	"00320686"	"1"	"03870"	"03870"	"2017-02-23 12:41:47"	""	""	"SEQ"	"DNA"	""	""
"0000321876"	"00320687"	"1"	"00085"	"00085"	"2011-06-27 08:46:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321877"	"00320688"	"1"	"00085"	"00085"	"2008-07-29 10:02:33"	"00085"	"2013-03-18 15:31:09"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321878"	"00320689"	"1"	"03870"	"03870"	"2017-02-23 12:45:33"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321879"	"00320690"	"1"	"03894"	"03894"	"2018-09-27 13:24:21"	"00006"	"2021-10-30 10:44:54"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000321880"	"00320691"	"1"	"00085"	"00085"	"2008-07-29 10:45:59"	"00085"	"2013-03-18 15:32:20"	"PCR;SEQ"	"DNA"	""	""
"0000321882"	"00320693"	"1"	"00085"	"00085"	"2008-02-29 11:58:55"	"00085"	"2013-03-18 15:33:42"	"?"	"?"	""	""
"0000321883"	"00320694"	"1"	"03855"	"03855"	"2009-12-29 11:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000321884"	"00320695"	"1"	"00085"	"00085"	"2008-02-29 09:07:23"	"00085"	"2013-03-18 15:35:15"	"SEQ"	"RNA"	""	""
"0000321885"	"00320696"	"1"	"00085"	"00085"	"2008-02-29 10:26:32"	"00085"	"2013-03-18 15:36:56"	"?"	"?"	""	""
"0000321886"	"00320697"	"1"	"03704"	"00085"	"2008-02-29 10:38:05"	"00085"	"2013-03-18 15:38:37"	"?"	"?"	""	""
"0000321887"	"00320698"	"1"	"00085"	"00085"	"2008-02-29 10:59:54"	"00085"	"2013-03-18 15:40:16"	"?"	"?"	""	""
"0000321888"	"00320699"	"1"	"03855"	"03855"	"2009-12-29 11:31:49"	""	""	"SEQ"	"DNA"	""	""
"0000321889"	"00320700"	"1"	"03879"	"03879"	"2014-12-04 10:53:44"	"00085"	"2015-08-07 14:32:33"	"PCR;SEQ"	"DNA"	""	""
"0000321890"	"00320701"	"1"	"03879"	"03879"	"2014-12-05 15:26:17"	"00085"	"2015-08-07 14:33:27"	"PCR;SEQ"	"DNA"	""	""
"0000321891"	"00320702"	"1"	"03879"	"03879"	"2014-12-05 15:27:29"	"00085"	"2015-08-07 14:34:04"	"PCR;SEQ"	"DNA"	""	""
"0000321892"	"00320703"	"1"	"03879"	"03879"	"2014-12-08 12:40:30"	"00085"	"2015-08-07 14:34:39"	"PCR;SEQ"	"DNA"	""	""
"0000321893"	"00320704"	"1"	"03879"	"03879"	"2014-12-08 12:41:31"	"00085"	"2015-08-07 14:39:48"	"PCR;SEQ"	"DNA"	""	""
"0000321894"	"00320705"	"1"	"00085"	"00085"	"2008-02-29 12:58:02"	"00085"	"2013-03-19 09:55:58"	"?"	"?"	""	""
"0000321896"	"00320707"	"1"	"00085"	"00085"	"2015-12-09 15:39:55"	"00085"	"2015-12-09 15:40:19"	"PCR;SEQ"	"DNA"	""	""
"0000321897"	"00320708"	"1"	"00085"	"00085"	"2018-01-19 08:44:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321898"	"00320709"	"1"	"03870"	"03870"	"2017-02-23 12:47:10"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000321899"	"00320710"	"1"	"03894"	"03894"	"2018-09-27 11:39:50"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321900"	"00320711"	"1"	"00085"	"00085"	"2018-08-01 15:32:44"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321901"	"00320712"	"1"	"00085"	"00085"	"2008-08-04 09:03:56"	"00085"	"2013-03-19 09:56:51"	"PCR;SEQ;EMC"	"DNA"	""	""
"0000321902"	"00320713"	"1"	"00085"	"00085"	"2015-06-17 11:36:07"	"00085"	"2016-02-22 08:21:00"	"PCR;SEQ"	"DNA"	""	""
"0000321903"	"00320714"	"1"	"03894"	"03894"	"2018-09-27 12:04:53"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321904"	"00320715"	"1"	"00085"	"00085"	"2019-08-15 16:30:43"	"00085"	"2019-08-28 16:13:19"	"SEQ-NG"	"DNA"	""	""
"0000321905"	"00320716"	"1"	"00085"	"00085"	"2011-06-17 14:34:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321906"	"00320717"	"1"	"03704"	"00085"	"2008-02-29 13:37:44"	"00085"	"2013-03-19 09:58:00"	"?"	"?"	""	""
"0000321907"	"00320718"	"1"	"03704"	"00085"	"2008-02-29 13:40:21"	"00085"	"2013-03-19 09:58:51"	"?"	"?"	""	""
"0000321908"	"00320719"	"1"	"01819"	"01819"	"2013-04-17 09:47:41"	"00085"	"2013-05-23 13:06:40"	"PCR;SEQ"	"DNA"	""	""
"0000321909"	"00320720"	"1"	"03870"	"03870"	"2017-02-23 12:48:43"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321910"	"00320721"	"1"	"03704"	"00085"	"2008-02-29 13:43:32"	"00085"	"2012-08-08 16:06:10"	"?"	"?"	""	""
"0000321911"	"00320722"	"1"	"03704"	"00085"	"2008-02-29 13:46:42"	"00085"	"2013-03-19 10:02:55"	"?"	"?"	""	""
"0000321912"	"00320723"	"1"	"00085"	"00085"	"2008-02-29 13:48:18"	"00085"	"2013-04-26 14:19:31"	"?"	"?"	""	""
"0000321913"	"00320724"	"1"	"00085"	"00085"	"2008-02-29 14:03:10"	"00085"	"2013-05-08 13:35:55"	"SEQ"	"RNA"	""	""
"0000321914"	"00320725"	"1"	"00085"	"00085"	"2008-02-29 14:09:02"	"00085"	"2013-05-08 13:36:38"	"SEQ"	"RNA"	""	""
"0000321915"	"00320726"	"1"	"00085"	"00085"	"2008-02-29 14:12:07"	"00085"	"2013-04-24 09:32:49"	"?"	"?"	""	""
"0000321916"	"00320727"	"1"	"00085"	"00085"	"2008-02-29 14:21:42"	"00085"	"2013-04-24 10:19:03"	"SEQ"	"DNA"	""	""
"0000321917"	"00320728"	"1"	"03855"	"03855"	"2009-12-30 11:29:26"	""	""	"SEQ"	"DNA"	""	""
"0000321918"	"00320729"	"1"	"00475"	"00475"	"2010-01-11 18:03:13"	""	""	"SEQ"	"DNA"	""	""
"0000321919"	"00320730"	"1"	"03888"	"00085"	"2018-04-13 11:13:14"	""	""	"?"	"DNA"	""	""
"0000321920"	"00320731"	"1"	"03894"	"03894"	"2018-09-27 12:45:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321921"	"00320732"	"1"	"00085"	"00085"	"2019-08-19 15:48:00"	"00085"	"2019-08-19 16:15:49"	"SEQ"	"DNA"	""	""
"0000321922"	"00320733"	"1"	"00085"	"00085"	"2019-09-04 10:35:06"	""	""	"SEQ"	"DNA"	""	""
"0000321923"	"00320734"	"1"	"03704"	"00085"	"2009-02-26 11:46:01"	"00085"	"2012-08-08 16:07:59"	"PCR;SEQ"	"DNA"	""	""
"0000321924"	"00320735"	"1"	"00085"	"00085"	"2008-02-29 15:13:26"	"00085"	"2013-05-08 13:37:40"	"SEQ"	"RNA"	""	""
"0000321925"	"00320736"	"1"	"00085"	"00085"	"2008-02-29 15:14:54"	"00085"	"2013-05-08 13:38:19"	"SEQ"	"RNA"	""	""
"0000321926"	"00320737"	"1"	"00085"	"00085"	"2008-08-06 11:02:50"	"00085"	"2012-07-10 13:38:38"	"PCR;SEQ"	"DNA"	""	""
"0000321927"	"00320738"	"1"	"00085"	"00085"	"2009-11-19 15:51:00"	"00085"	"2013-03-12 12:38:53"	"?"	"?"	""	""
"0000321928"	"00320739"	"1"	"03855"	"03855"	"2009-12-18 17:11:05"	""	""	"SEQ"	"DNA"	""	""
"0000321929"	"00320740"	"1"	"03855"	"03855"	"2009-12-30 11:11:16"	"00085"	"2010-03-30 16:31:27"	"SEQ"	"DNA"	""	""
"0000321930"	"00320741"	"1"	"00085"	"00085"	"2010-08-16 09:16:19"	"00085"	"2012-10-12 13:38:56"	"PCR;SEQ"	"DNA"	""	""
"0000321931"	"00320742"	"1"	"03865"	"03865"	"2012-06-23 14:30:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321932"	"00320743"	"1"	"03865"	"03865"	"2013-08-22 09:40:25"	"00085"	"2013-08-23 13:52:40"	"PCR;SEQ"	"DNA"	""	""
"0000321933"	"00320744"	"1"	"03879"	"03879"	"2014-12-08 14:25:05"	"00085"	"2015-08-10 09:44:19"	"PCR;SEQ"	"DNA"	""	""
"0000321934"	"00320745"	"1"	"03879"	"03879"	"2014-12-10 10:50:46"	"00085"	"2015-08-10 09:45:43"	"PCR;SEQ"	"DNA"	""	""
"0000321935"	"00320746"	"1"	"00085"	"00085"	"2018-08-03 09:23:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321936"	"00320747"	"1"	"03894"	"03894"	"2018-09-25 12:36:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321937"	"00320748"	"1"	"00085"	"00085"	"2008-05-07 14:02:38"	"00085"	"2012-08-08 16:09:52"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000321938"	"00320749"	"1"	"03894"	"03894"	"2018-09-26 12:38:58"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321939"	"00320750"	"1"	"01819"	"01819"	"2011-09-21 12:48:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321940"	"00320751"	"1"	"00085"	"00085"	"2014-04-02 09:01:53"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321941"	"00320752"	"1"	"03894"	"03894"	"2018-09-27 12:27:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321942"	"00320753"	"1"	"00085"	"00085"	"2018-01-18 13:35:59"	"00085"	"2018-01-18 13:36:21"	"PCR;SEQ"	"DNA"	""	""
"0000321943"	"00320754"	"1"	"00085"	"00085"	"2008-02-29 15:27:49"	"00085"	"2013-05-08 13:39:11"	"SEQ"	"RNA"	""	""
"0000321944"	"00320755"	"1"	"00085"	"00085"	"2008-02-29 15:43:08"	"00085"	"2012-08-17 16:27:30"	"?"	"?"	""	""
"0000321945"	"00320756"	"1"	"00085"	"00085"	"2011-06-17 14:57:41"	"00085"	"2011-06-17 15:01:22"	"PCR;SEQ"	"DNA"	""	""
"0000321946"	"00320757"	"1"	"03872"	"03872"	"2014-11-02 13:09:03"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000321947"	"00320758"	"1"	"03894"	"03894"	"2018-09-27 11:33:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321948"	"00320759"	"1"	"00085"	"00085"	"2008-07-29 10:12:37"	"00085"	"2013-04-24 09:24:07"	"?"	"?"	""	""
"0000321949"	"00320760"	"1"	"00085"	"00085"	"2015-12-09 15:09:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321950"	"00320761"	"1"	"03894"	"03894"	"2018-09-27 14:02:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321951"	"00320762"	"1"	"03894"	"03894"	"2019-10-14 02:42:04"	"00006"	"2021-10-30 11:41:12"	"SEQ-NG"	"DNA;RNA"	""	"WES"
"0000321952"	"00320763"	"1"	"00085"	"00085"	"2008-07-29 10:37:55"	"00085"	"2012-08-02 11:56:36"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000321953"	"00320764"	"1"	"00085"	"00085"	"2008-07-29 10:50:38"	"00085"	"2012-08-02 12:00:41"	"PCR;SEQ"	"DNA"	""	""
"0000321954"	"00320765"	"1"	"03865"	"03865"	"2012-06-23 14:34:49"	"00085"	"2013-08-23 13:39:03"	"MS;PCR;SEQ"	"DNA"	""	""
"0000321955"	"00320766"	"1"	"00085"	"00085"	"2014-04-02 09:04:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321956"	"00320767"	"1"	"03894"	"03894"	"2018-09-27 13:25:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321957"	"00320768"	"1"	"00085"	"00085"	"2012-08-24 13:25:43"	"00085"	"2012-08-28 11:32:33"	"?"	"?"	""	""
"0000321959"	"00320770"	"1"	"03702"	"03702"	"2010-08-11 12:26:48"	"00085"	"2016-08-12 16:20:26"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000321960"	"00320771"	"1"	"00085"	"00085"	"2013-12-11 15:55:12"	"00085"	"2016-08-12 16:21:48"	"PCR;SEQ"	"DNA"	""	""
"0000321961"	"00320772"	"1"	"03853"	"03853"	"2008-11-05 17:41:37"	"00085"	"2008-11-18 16:19:33"	"SEQ"	"DNA"	""	""
"0000321962"	"00320773"	"1"	"03853"	"03853"	"2009-03-06 14:53:29"	"00085"	"2014-08-05 11:34:57"	"SEQ"	"DNA"	""	""
"0000321963"	"00320774"	"1"	"03853"	"03853"	"2009-08-28 15:29:13"	""	""	"SEQ"	"DNA"	""	""
"0000321964"	"00320775"	"1"	"03897"	"03897"	"2020-04-11 16:09:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321965"	"00320776"	"1"	"00085"	"00085"	"2008-02-29 16:37:52"	"00085"	"2013-05-08 13:40:21"	"CSGE"	"DNA"	""	""
"0000321966"	"00320777"	"1"	"00085"	"00085"	"2008-03-05 09:54:59"	"00085"	"2014-04-07 08:54:28"	"PCR;SEQ"	"DNA"	""	""
"0000321967"	"00320778"	"1"	"00085"	"00085"	"2008-03-05 09:59:06"	"00085"	"2013-04-24 10:53:30"	"PCR;SEQ"	"DNA"	""	""
"0000321968"	"00320779"	"1"	"03855"	"03855"	"2009-12-29 11:36:06"	""	""	"SEQ"	"DNA"	""	""
"0000321969"	"00320780"	"1"	"03870"	"03870"	"2010-09-27 16:26:32"	"00085"	"2013-04-22 10:56:13"	"DHPLC;SEQ"	"DNA"	""	""
"0000321970"	"00320781"	"1"	"00085"	"00085"	"2011-06-17 15:00:41"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321971"	"00320782"	"1"	"03879"	"03879"	"2014-12-08 13:50:40"	"00085"	"2015-08-07 14:40:21"	"PCR;SEQ"	"DNA"	""	""
"0000321972"	"00320783"	"1"	"03872"	"03872"	"2015-04-27 14:45:53"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000321973"	"00320784"	"1"	"00085"	"00085"	"2015-10-08 11:13:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000321974"	"00320785"	"1"	"00085"	"00085"	"2015-12-09 15:42:45"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321975"	"00320786"	"1"	"03870"	"03870"	"2017-02-24 10:49:12"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000321976"	"00320787"	"1"	"03894"	"03894"	"2018-09-25 14:20:17"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321978"	"00320789"	"1"	"03897"	"03897"	"2020-04-11 10:41:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321979"	"00320790"	"1"	"03870"	"03870"	"2010-02-05 17:37:30"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321980"	"00320791"	"1"	"03853"	"03853"	"2009-08-28 15:34:40"	""	""	"SEQ"	"DNA"	""	""
"0000321981"	"00320792"	"1"	"01819"	"01819"	"2011-09-21 12:50:49"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321982"	"00320793"	"1"	"01819"	"01819"	"2011-09-21 12:52:49"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321983"	"00320794"	"1"	"00085"	"00085"	"2008-03-03 09:04:11"	"00085"	"2012-08-17 16:35:50"	"CMC;SEQ"	"RNA"	""	""
"0000321984"	"00320795"	"1"	"03704"	"00085"	"2008-03-03 09:05:32"	"00085"	"2012-08-17 16:37:47"	"?"	"?"	""	""
"0000321985"	"00320796"	"1"	"03855"	"03855"	"2009-12-30 11:12:19"	""	""	"SEQ"	"DNA"	""	""
"0000321986"	"00320797"	"1"	"03855"	"03855"	"2009-12-29 11:38:26"	""	""	"SEQ"	"DNA"	""	""
"0000321987"	"00320798"	"1"	"03870"	"03870"	"2010-03-05 16:22:16"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321988"	"00320799"	"1"	"00085"	"00085"	"2016-08-02 13:29:59"	""	""	"SEQ-NG"	"DNA"	""	""
"0000321989"	"00320800"	"1"	"00085"	"00085"	"2011-06-17 15:05:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321990"	"00320801"	"1"	"03704"	"00085"	"2008-03-03 09:12:38"	"00085"	"2013-05-08 13:41:13"	"?"	"?"	""	""
"0000321991"	"00320802"	"1"	"03870"	"03870"	"2010-10-13 16:16:48"	"00085"	"2013-04-22 10:57:11"	"DHPLC;SEQ"	"DNA"	""	""
"0000321992"	"00320803"	"1"	"03870"	"03870"	"2017-02-24 10:50:22"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000321993"	"00320804"	"1"	"03865"	"03865"	"2012-06-25 08:35:38"	"03865"	"2013-11-02 01:32:35"	"PCR;SEQ;MS"	"DNA"	""	""
"0000321994"	"00320805"	"1"	"03894"	"03894"	"2018-09-26 12:14:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000321996"	"00320807"	"1"	"03870"	"03870"	"2010-10-06 16:45:39"	"00085"	"2013-04-22 10:57:55"	"DHPLC;SEQ"	"DNA"	""	""
"0000321997"	"00320808"	"1"	"03878"	"03878"	"2014-10-22 15:03:07"	""	""	"SEQ-NG"	"DNA"	""	""
"0000321998"	"00320809"	"1"	"03870"	"03870"	"2010-03-05 16:35:36"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000321999"	"00320810"	"1"	"03894"	"03894"	"2018-09-27 10:22:02"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000322000"	"00320811"	"1"	"00085"	"00085"	"2008-07-29 10:54:43"	"00085"	"2013-05-08 13:42:08"	"?"	"?"	""	""
"0000322001"	"00320812"	"1"	"00085"	"00085"	"2008-07-29 11:14:54"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322002"	"00320813"	"1"	"00085"	"00085"	"2008-07-29 11:17:34"	"00085"	"2013-04-24 09:33:21"	"?"	"?"	""	""
"0000322003"	"00320814"	"1"	"03855"	"03855"	"2009-12-30 11:07:17"	""	""	"SEQ"	"DNA"	""	""
"0000322004"	"00320815"	"1"	"00085"	"00085"	"2019-08-12 14:46:02"	""	""	"SEQ"	"DNA"	""	""
"0000322005"	"00320816"	"1"	"00085"	"00085"	"2008-07-29 11:06:29"	"00085"	"2013-04-24 09:33:56"	"?"	"?"	""	""
"0000322006"	"00320817"	"1"	"00085"	"00085"	"2008-07-29 11:09:46"	"00085"	"2013-04-24 16:49:07"	"PCR;SEQ"	"DNA"	""	""
"0000322007"	"00320818"	"1"	"00085"	"00085"	"2008-07-29 11:19:45"	"00085"	"2013-04-26 14:20:53"	"?"	"?"	""	""
"0000322008"	"00320819"	"1"	"00085"	"00085"	"2009-05-08 08:57:30"	"00085"	"2013-03-18 15:48:38"	"PCR;SEQ"	"DNA"	""	""
"0000322009"	"00320820"	"1"	"01819"	"01819"	"2011-09-21 14:13:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322010"	"00320821"	"1"	"03704"	"00085"	"2008-07-29 12:56:46"	"00085"	"2013-04-26 14:21:41"	"?"	"?"	""	""
"0000322011"	"00320822"	"1"	"03853"	"03853"	"2009-12-18 15:20:39"	""	""	"SEQ"	"DNA"	""	""
"0000322012"	"00320823"	"1"	"00085"	"00085"	"2018-08-02 16:36:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322013"	"00320824"	"1"	"00085"	"00085"	"2015-05-20 14:09:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322014"	"00320825"	"1"	"03879"	"03879"	"2014-12-09 08:59:35"	"00085"	"2015-08-07 14:40:53"	"PCR;SEQ"	"DNA"	""	""
"0000322015"	"00320826"	"1"	"03853"	"00085"	"2008-03-03 09:15:09"	"00085"	"2012-08-17 16:21:26"	"?"	"?"	""	""
"0000322016"	"00320827"	"1"	"00085"	"00085"	"2008-03-03 09:48:46"	"00085"	"2012-08-17 16:41:51"	"SEQ"	"DNA"	""	""
"0000322017"	"00320828"	"1"	"03894"	"03894"	"2018-09-27 11:45:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322018"	"00320829"	"1"	"03897"	"03897"	"2020-04-11 16:13:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322019"	"00320830"	"1"	"00475"	"00475"	"2010-01-11 18:07:45"	""	""	"SEQ"	"DNA"	""	""
"0000322020"	"00320831"	"1"	"01819"	"00085"	"2008-03-03 09:17:43"	"00085"	"2012-08-17 16:44:33"	"?"	"?"	""	""
"0000322021"	"00320832"	"1"	"03897"	"03897"	"2020-04-11 16:17:06"	"03897"	"2020-04-11 16:54:07"	"PCR;SEQ"	"DNA"	""	""
"0000322022"	"00320833"	"1"	"03853"	"03853"	"2009-08-28 15:36:58"	""	""	"SEQ"	"DNA"	""	""
"0000322023"	"00320834"	"1"	"00475"	"00475"	"2010-01-11 18:10:24"	""	""	"SEQ"	"DNA"	""	""
"0000322024"	"00320835"	"1"	"03870"	"03870"	"2011-09-22 16:19:12"	"00085"	"2013-04-22 10:58:47"	"DHPLC;SEQ"	"DNA"	""	""
"0000322025"	"00320836"	"1"	"00085"	"00085"	"2016-08-01 10:02:52"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000322026"	"00320837"	"1"	"03894"	"03894"	"2018-09-26 13:42:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322027"	"00320838"	"1"	"03894"	"03894"	"2018-09-26 13:45:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322028"	"00320839"	"1"	"03894"	"03894"	"2018-09-27 10:51:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322029"	"00320840"	"1"	"00085"	"00085"	"2014-08-05 14:23:05"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000322030"	"00320841"	"1"	"00085"	"00085"	"2017-03-23 10:40:11"	"00085"	"2017-03-23 10:41:25"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000322031"	"00320842"	"1"	"03897"	"00085"	"2019-08-28 14:06:51"	""	""	"SEQ"	"DNA"	""	""
"0000322032"	"00320843"	"1"	"03870"	"03870"	"2017-02-24 10:56:24"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322033"	"00320844"	"1"	"03870"	"03870"	"2017-02-24 10:53:15"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322034"	"00320845"	"1"	"03855"	"03855"	"2009-12-30 11:34:14"	"00085"	"2010-03-30 16:50:24"	"MLPA"	"DNA"	""	""
"0000322035"	"00320846"	"1"	"00085"	"00085"	"2014-04-02 09:08:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322036"	"00320847"	"1"	"01819"	"00085"	"2008-03-03 09:20:36"	"00085"	"2012-08-17 17:02:22"	"?"	"?"	""	""
"0000322037"	"00320848"	"1"	"03879"	"03879"	"2014-12-04 10:11:07"	"00085"	"2015-08-07 14:41:42"	"PCR;SEQ"	"DNA"	""	""
"0000322038"	"00320849"	"1"	"03704"	"00085"	"2008-03-03 10:05:06"	"00085"	"2013-04-26 14:23:31"	"DGGE;SEQ"	"DNA"	""	""
"0000322039"	"00320850"	"1"	"00085"	"00085"	"2008-03-03 10:23:50"	"00085"	"2013-04-24 10:19:03"	"SEQ"	"DNA"	""	""
"0000322040"	"00320851"	"1"	"03870"	"03870"	"2009-06-12 16:33:57"	"00085"	"2014-02-18 13:55:25"	"DHPLC;SEQ"	"DNA"	""	""
"0000322041"	"00320852"	"1"	"03856"	"03856"	"2009-09-18 15:14:48"	"00085"	"2014-02-18 13:55:51"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000322042"	"00320853"	"1"	"03870"	"03870"	"2010-09-02 11:34:07"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322043"	"00320854"	"1"	"03879"	"03879"	"2014-12-08 11:16:29"	"00085"	"2015-08-07 14:42:33"	"PCR;SEQ"	"DNA"	""	""
"0000322044"	"00320855"	"1"	"00085"	"00085"	"2016-08-04 14:09:24"	"00085"	"2016-08-04 14:31:45"	"PCR;SEQ"	"DNA"	""	""
"0000322045"	"00320856"	"1"	"03870"	"03870"	"2017-02-28 14:28:18"	""	""	"SEQ"	"DNA"	""	""
"0000322046"	"00320857"	"1"	"03870"	"03870"	"2017-02-28 14:34:08"	""	""	"SEQ"	"DNA"	""	""
"0000322047"	"00320858"	"1"	"03870"	"03870"	"2017-02-28 14:34:59"	""	""	"SEQ"	"DNA"	""	""
"0000322048"	"00320859"	"1"	"03870"	"03870"	"2017-02-28 14:35:47"	""	""	"SEQ"	"DNA"	""	""
"0000322050"	"00320861"	"1"	"03897"	"03897"	"2020-04-11 12:08:54"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322051"	"00320862"	"1"	"00085"	"00085"	"2008-03-03 09:25:26"	"00085"	"2012-08-17 17:06:09"	"?"	"?"	""	""
"0000322052"	"00320863"	"1"	"00085"	"00085"	"2008-03-03 09:33:16"	"00085"	"2012-08-17 17:07:48"	"NUC;SEQ"	"RNA"	""	""
"0000322053"	"00320864"	"1"	"00085"	"00085"	"2008-03-03 10:38:27"	"00085"	"2012-08-17 17:09:19"	"SEQ"	"RNA"	""	""
"0000322054"	"00320865"	"1"	"03872"	"03872"	"2014-02-18 18:55:01"	"00085"	"2015-09-07 08:45:09"	"MCA;PCR;SEQ"	"DNA"	""	""
"0000322055"	"00320866"	"1"	"00085"	"00085"	"2008-03-03 13:43:52"	"00085"	"2013-04-26 14:24:30"	"DGGE;SEQ"	"DNA"	""	""
"0000322056"	"00320867"	"1"	"00085"	"00085"	"2008-03-03 13:50:33"	"00085"	"2012-05-30 13:02:02"	"CSGE;SEQ"	"DNA"	""	""
"0000322057"	"00320868"	"1"	"00085"	"00085"	"2008-03-03 13:54:40"	"00085"	"2012-05-30 13:02:33"	"CSGE;SEQ"	"DNA"	""	""
"0000322058"	"00320869"	"1"	"00085"	"00085"	"2008-03-03 13:59:11"	"00085"	"2012-05-30 13:03:08"	"CSGE;SEQ"	"DNA"	""	""
"0000322059"	"00320870"	"1"	"00085"	"00085"	"2008-03-03 14:09:56"	"00085"	"2013-04-26 14:25:23"	"SEQ;SSCA"	"RNA"	""	""
"0000322060"	"00320871"	"1"	"03704"	"00085"	"2008-03-03 14:21:41"	"00085"	"2013-04-26 14:26:17"	"DGGE;SEQ"	"DNA"	""	""
"0000322061"	"00320872"	"1"	"00085"	"00085"	"2008-03-03 14:46:40"	"00085"	"2013-04-24 16:49:07"	"SEQ"	"DNA"	""	""
"0000322062"	"00320873"	"1"	"00085"	"00085"	"2008-03-03 15:00:02"	"00085"	"2013-04-24 10:19:03"	"SEQ"	"DNA"	""	""
"0000322063"	"00320874"	"1"	"03704"	"00085"	"2008-03-03 15:04:18"	"00085"	"2013-04-26 14:26:58"	"?"	"?"	""	""
"0000322064"	"00320875"	"1"	"03704"	"00085"	"2008-03-03 15:05:25"	"00085"	"2013-04-26 14:27:42"	"?"	"?"	""	""
"0000322065"	"00320876"	"1"	"03704"	"00085"	"2008-03-03 15:06:54"	"00085"	"2013-04-26 14:28:46"	"?"	"?"	""	""
"0000322066"	"00320877"	"1"	"03704"	"00085"	"2008-03-03 15:08:15"	"00085"	"2013-05-08 13:43:08"	"?"	"?"	""	""
"0000322067"	"00320878"	"1"	"00085"	"00085"	"2008-03-03 15:09:48"	"00085"	"2013-05-08 13:44:13"	"?"	"?"	""	""
"0000322068"	"00320879"	"1"	"00085"	"00085"	"2008-03-03 15:10:54"	"00085"	"2013-05-08 13:45:07"	"?"	"?"	""	""
"0000322069"	"00320880"	"1"	"00085"	"00085"	"2008-03-03 15:11:57"	"00085"	"2013-05-08 13:45:49"	"?"	"?"	""	""
"0000322070"	"00320881"	"1"	"00085"	"00085"	"2008-03-03 15:13:16"	"00085"	"2013-05-08 13:46:29"	"?"	"?"	""	""
"0000322071"	"00320882"	"1"	"03870"	"03870"	"2009-06-16 17:52:38"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322072"	"00320883"	"1"	"03855"	"03855"	"2009-12-29 12:17:14"	""	""	"SEQ"	"DNA"	""	""
"0000322073"	"00320884"	"1"	"03855"	"03855"	"2009-12-29 12:30:08"	""	""	"SEQ"	"DNA"	""	""
"0000322074"	"00320885"	"1"	"00475"	"00475"	"2010-01-13 12:31:59"	""	""	"SEQ"	"DNA"	""	""
"0000322075"	"00320886"	"1"	"00475"	"00475"	"2010-01-13 12:46:13"	""	""	"SEQ"	"DNA"	""	""
"0000322076"	"00320887"	"1"	"03870"	"03870"	"2010-03-05 16:28:15"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322077"	"00320888"	"1"	"03870"	"03870"	"2010-07-26 16:16:31"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322078"	"00320889"	"1"	"03870"	"03870"	"2010-10-06 16:51:09"	"00085"	"2013-04-22 11:00:03"	"DHPLC;SEQ"	"DNA"	""	""
"0000322079"	"00320890"	"1"	"00085"	"00085"	"2011-06-17 15:17:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322080"	"00320891"	"1"	"00085"	"00085"	"2011-06-17 15:24:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322081"	"00320892"	"1"	"01819"	"01819"	"2011-09-21 12:55:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322082"	"00320893"	"1"	"01819"	"01819"	"2011-09-21 12:56:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322083"	"00320894"	"1"	"00085"	"00085"	"2011-11-02 08:42:21"	"00085"	"2011-11-02 08:52:48"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000322084"	"00320895"	"1"	"00085"	"00085"	"2014-02-05 09:49:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322085"	"00320896"	"1"	"00085"	"00085"	"2015-10-08 11:14:56"	""	""	"SEQ-NG"	"DNA"	""	""
"0000322086"	"00320897"	"1"	"00085"	"00085"	"2015-12-09 15:45:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322087"	"00320898"	"1"	"03870"	"03870"	"2017-02-28 14:37:13"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322088"	"00320899"	"1"	"03870"	"03870"	"2017-02-28 14:38:28"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322089"	"00320900"	"1"	"03870"	"03870"	"2017-02-28 14:39:20"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322090"	"00320901"	"1"	"03870"	"03870"	"2017-02-28 14:40:13"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322091"	"00320902"	"1"	"00085"	"00085"	"2017-06-20 11:36:43"	"00085"	"2017-06-20 11:36:58"	"PCR;SEQ"	"DNA"	""	""
"0000322092"	"00320903"	"1"	"03894"	"03894"	"2018-09-27 12:37:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322093"	"00320904"	"1"	"03894"	"03894"	"2018-09-27 14:07:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322094"	"00320905"	"1"	"00085"	"00085"	"2019-08-30 14:21:53"	""	""	"SEQ"	"DNA"	""	""
"0000322095"	"00320906"	"1"	"00085"	"00085"	"2019-08-30 14:23:49"	""	""	"SEQ"	"DNA"	""	""
"0000322096"	"00320907"	"1"	"03897"	"03897"	"2020-04-11 12:01:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322097"	"00320908"	"1"	"03894"	"03894"	"2018-09-27 11:31:59"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322098"	"00320909"	"1"	"03704"	"00085"	"2008-05-08 14:01:52"	"00085"	"2012-08-17 17:10:14"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000322099"	"00320910"	"1"	"03885"	"03885"	"2016-09-30 20:11:18"	"03885"	"2016-10-06 18:05:44"	"SEQ-NG"	"DNA"	""	""
"0000322100"	"00320911"	"1"	"00085"	"00085"	"2008-03-03 15:33:41"	"00085"	"2013-02-13 14:46:25"	"SEQ"	"RNA"	""	""
"0000322101"	"00320912"	"1"	"03853"	"03853"	"2010-05-03 14:11:49"	""	""	"SEQ"	"DNA"	""	""
"0000322102"	"00320913"	"1"	"00085"	"00085"	"2008-03-03 15:38:35"	"00085"	"2013-02-13 14:48:44"	"SEQ;CMC"	"RNA"	""	""
"0000322103"	"00320914"	"1"	"00475"	"00475"	"2010-01-13 12:34:03"	""	""	"SEQ"	"DNA"	""	""
"0000322104"	"00320915"	"1"	"00085"	"00085"	"2016-08-04 13:47:48"	"00085"	"2016-08-04 13:52:14"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000322105"	"00320916"	"1"	"00085"	"00085"	"2016-07-26 14:26:35"	"00085"	"2016-07-26 15:30:16"	"PCR;SEQ"	"DNA"	""	""
"0000322106"	"00320917"	"1"	"00085"	"00085"	"2008-03-04 11:02:02"	"00085"	"2013-02-13 14:50:05"	"SEQ"	"RNA"	""	""
"0000322107"	"00320918"	"1"	"00085"	"00085"	"2008-03-04 11:34:51"	"00085"	"2013-02-13 14:51:54"	"DHPLC;SEQ"	"DNA"	""	""
"0000322108"	"00320919"	"1"	"03704"	"00085"	"2011-02-16 16:34:36"	"00085"	"2011-02-18 08:17:21"	"PCR;SEQ"	"DNA"	""	""
"0000322109"	"00320920"	"1"	"03879"	"03879"	"2014-12-08 13:55:53"	"00085"	"2015-08-07 14:43:06"	"PCR;SEQ"	"DNA"	""	""
"0000322110"	"00320921"	"1"	"03879"	"03879"	"2014-12-08 13:56:51"	"00085"	"2015-08-07 14:44:48"	"PCR;SEQ"	"DNA"	""	""
"0000322111"	"00320922"	"1"	"01819"	"01819"	"2011-09-21 14:15:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322112"	"00320923"	"1"	"03897"	"03897"	"2020-04-11 11:57:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322113"	"00320924"	"1"	"00085"	"00085"	"2011-11-02 10:49:27"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000322114"	"00320925"	"1"	"00085"	"00085"	"2008-07-29 13:03:07"	"00085"	"2013-04-24 10:51:22"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000322115"	"00320926"	"1"	"00085"	"00085"	"2008-07-29 13:04:27"	"00085"	"2013-04-24 09:34:30"	"?"	"?"	""	""
"0000322116"	"00320927"	"1"	"03870"	"03870"	"2010-03-05 16:31:10"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322117"	"00320928"	"1"	"00085"	"00085"	"2008-07-30 08:11:29"	"00085"	"2013-05-08 13:47:24"	"?"	"?"	""	""
"0000322118"	"00320929"	"1"	"00085"	"00085"	"2008-03-04 11:04:36"	"00085"	"2013-03-15 16:27:47"	"?"	"?"	""	""
"0000322119"	"00320930"	"1"	"00085"	"00085"	"2008-03-04 11:06:52"	"00085"	"2013-03-15 16:29:06"	"?"	"?"	""	""
"0000322120"	"00320931"	"1"	"00085"	"00085"	"2008-05-09 10:08:37"	"00085"	"2014-03-20 13:04:24"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322121"	"00320932"	"1"	"03870"	"03870"	"2011-04-28 09:53:31"	"00085"	"2013-04-22 11:01:08"	"DHPLC;SEQ"	"DNA"	""	""
"0000322122"	"00320933"	"1"	"03870"	"03870"	"2017-03-01 09:40:39"	""	""	"SEQ"	"DNA"	""	""
"0000322123"	"00320934"	"1"	"03870"	"03870"	"2017-03-01 09:41:28"	""	""	"SEQ"	"DNA"	""	""
"0000322124"	"00320935"	"1"	"03870"	"03870"	"2017-03-01 09:42:05"	""	""	"SEQ"	"DNA"	""	""
"0000322125"	"00320936"	"1"	"03894"	"03894"	"2018-09-27 14:08:19"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322126"	"00320937"	"1"	"03704"	"00085"	"2008-03-04 11:13:52"	"00085"	"2013-03-15 16:31:47"	"SEQ"	"protein"	""	""
"0000322127"	"00320938"	"1"	"03704"	"00085"	"2008-03-04 11:25:15"	"00085"	"2013-03-15 16:32:48"	"?"	"?"	""	""
"0000322128"	"00320939"	"1"	"03704"	"00085"	"2008-03-04 11:26:36"	"00085"	"2013-03-15 16:33:47"	"?"	"?"	""	""
"0000322129"	"00320940"	"1"	"03855"	"03855"	"2009-12-29 12:31:15"	""	""	"SEQ"	"DNA"	""	""
"0000322130"	"00320941"	"1"	"03853"	"03853"	"2010-05-03 14:15:07"	""	""	"SEQ"	"DNA"	""	""
"0000322131"	"00320942"	"1"	"03894"	"03894"	"2018-09-25 12:34:04"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322132"	"00320943"	"1"	"03704"	"00085"	"2008-03-04 11:29:15"	"00085"	"2013-03-15 16:35:41"	"?"	"?"	""	""
"0000322133"	"00320944"	"1"	"00085"	"00085"	"2008-03-04 11:42:43"	"00085"	"2013-03-15 16:37:13"	"?"	"?"	""	""
"0000322134"	"00320945"	"1"	"03855"	"03855"	"2009-12-29 12:32:55"	""	""	"SEQ"	"DNA"	""	""
"0000322135"	"00320946"	"1"	"03880"	"00085"	"2015-06-15 09:12:45"	"00085"	"2015-06-15 15:06:58"	"PCR;SEQ"	"DNA"	""	""
"0000322136"	"00320947"	"1"	"00085"	"00085"	"2008-03-04 11:45:19"	"00085"	"2013-03-15 16:39:51"	"?"	"?"	""	""
"0000322137"	"00320948"	"1"	"03879"	"03879"	"2014-12-04 09:21:33"	"00085"	"2015-08-07 14:43:54"	"PCR;SEQ"	"DNA"	""	""
"0000322138"	"00320949"	"1"	"00085"	"00085"	"2008-03-04 11:47:55"	"00085"	"2013-03-15 16:41:44"	"?"	"?"	""	""
"0000322139"	"00320950"	"1"	"03704"	"00085"	"2008-03-04 11:52:06"	"00085"	"2013-03-15 16:43:44"	"?"	"?"	""	""
"0000322140"	"00320951"	"1"	"03704"	"00085"	"2008-03-04 11:53:55"	"00085"	"2013-03-15 16:45:15"	"?"	"?"	""	""
"0000322141"	"00320952"	"1"	"03879"	"03879"	"2014-12-02 11:06:48"	"00085"	"2015-08-07 14:45:31"	"PCR"	"DNA"	""	""
"0000322142"	"00320953"	"1"	"03879"	"03879"	"2014-12-08 10:38:33"	"00085"	"2015-08-07 14:46:13"	"PCR;SEQ"	"DNA"	""	""
"0000322143"	"00320954"	"1"	"03879"	"03879"	"2014-12-08 12:31:17"	"00085"	"2015-08-07 14:46:53"	"PCR;SEQ"	"DNA"	""	""
"0000322144"	"00320955"	"1"	"00085"	"00085"	"2008-07-30 08:17:15"	"00085"	"2013-05-08 13:48:37"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322145"	"00320956"	"1"	"01819"	"01819"	"2011-09-21 14:22:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322146"	"00320957"	"1"	"03894"	"03894"	"2018-09-27 11:37:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322147"	"00320958"	"1"	"03897"	"03897"	"2020-04-11 11:53:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322148"	"00320959"	"1"	"03897"	"03897"	"2020-04-11 11:54:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322149"	"00320960"	"1"	"00085"	"00085"	"2008-07-30 08:14:18"	"00085"	"2013-05-08 13:49:51"	"?"	"?"	""	""
"0000322150"	"00320961"	"1"	"00085"	"00085"	"2011-06-17 15:29:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322151"	"00320962"	"1"	"00085"	"00085"	"2015-12-09 15:48:11"	"00085"	"2015-12-09 15:48:59"	"PCR;SEQ"	"DNA"	""	""
"0000322152"	"00320963"	"1"	"00085"	"00085"	"2008-07-30 08:25:57"	"00085"	"2012-08-01 15:23:21"	"PCR;SEQ"	"DNA"	""	""
"0000322153"	"00320964"	"1"	"00085"	"00085"	"2011-06-17 16:43:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322154"	"00320965"	"1"	"01819"	"01819"	"2011-09-21 14:25:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322155"	"00320966"	"1"	"00085"	"00085"	"2008-07-30 08:21:13"	"00085"	"2013-05-08 13:50:37"	"?"	"?"	""	""
"0000322156"	"00320967"	"1"	"00085"	"00085"	"2008-07-30 08:21:58"	"00085"	"2013-05-08 13:51:14"	"?"	"?"	""	""
"0000322157"	"00320968"	"1"	"00085"	"00085"	"2008-03-05 11:29:36"	"00085"	"2013-03-18 15:43:29"	"DHPLC;SEQ"	"DNA"	""	""
"0000322158"	"00320969"	"1"	"01819"	"01819"	"2011-09-21 12:58:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322159"	"00320970"	"1"	"00085"	"00085"	"2014-04-04 14:15:48"	""	""	"SEQ"	"DNA"	""	""
"0000322160"	"00320971"	"1"	"00085"	"00085"	"2014-10-30 10:28:58"	""	""	"SEQ"	"DNA"	""	""
"0000322161"	"00320972"	"1"	"00085"	"00085"	"2008-03-17 14:08:46"	"00085"	"2012-08-03 15:50:26"	"SEQ"	"DNA"	""	""
"0000322162"	"00320973"	"1"	"03704"	"00085"	"2009-02-13 15:22:30"	"00085"	"2013-03-15 16:48:51"	"PCR;SEQ"	"DNA"	""	""
"0000322163"	"00320974"	"1"	"00085"	"00085"	"2016-06-14 10:47:05"	"00085"	"2016-08-12 16:27:30"	"PCR;SEQ"	"DNA"	""	""
"0000322164"	"00320975"	"1"	"00085"	"00085"	"2015-12-09 15:53:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322165"	"00320976"	"1"	"03870"	"03870"	"2011-03-11 14:46:49"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322166"	"00320977"	"1"	"00085"	"00085"	"2019-09-04 10:40:59"	""	""	"SEQ"	"DNA"	""	""
"0000322167"	"00320978"	"1"	"00085"	"00085"	"2008-03-04 11:58:07"	"00085"	"2013-03-15 16:51:01"	"SEQ;CSGE"	"DNA"	""	""
"0000322168"	"00320979"	"1"	"03894"	"03894"	"2018-09-27 13:55:15"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322169"	"00320980"	"1"	"00085"	"00085"	"2008-03-04 12:39:59"	"00085"	"2013-05-08 13:51:59"	"?"	"?"	""	""
"0000322170"	"00320981"	"1"	"01819"	"01819"	"2011-09-21 13:02:13"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322172"	"00320983"	"1"	"03855"	"03855"	"2009-12-30 11:08:18"	""	""	"SEQ"	"DNA"	""	""
"0000322174"	"00320985"	"1"	"03894"	"03894"	"2018-09-27 08:36:58"	"00006"	"2021-10-30 12:00:21"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"custom gene panel, WES"
"0000322175"	"00320986"	"1"	"00085"	"00085"	"2008-07-30 08:36:04"	"00085"	"2013-05-08 13:52:56"	"?"	"?"	""	""
"0000322176"	"00320987"	"1"	"03894"	"03894"	"2018-09-25 12:50:22"	"03894"	"2018-09-27 14:29:47"	"PCR;SEQ"	"DNA"	""	""
"0000322177"	"00320988"	"1"	"03885"	"03885"	"2016-09-30 20:24:41"	"03885"	"2016-10-06 18:06:06"	"SEQ-NG"	"DNA"	""	""
"0000322178"	"00320989"	"1"	"03897"	"00085"	"2019-08-28 15:51:35"	"00085"	"2020-03-29 11:43:52"	"SEQ"	"DNA"	""	""
"0000322179"	"00320990"	"1"	"03897"	"03897"	"2020-04-11 11:32:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322181"	"00320992"	"1"	"03894"	"03894"	"2018-09-26 13:36:53"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322182"	"00320993"	"1"	"00085"	"00085"	"2008-03-04 12:46:14"	"00085"	"2013-03-15 16:55:28"	"SEQ;CMC"	"RNA"	""	""
"0000322183"	"00320994"	"1"	"03870"	"03870"	"2009-11-25 16:50:56"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322184"	"00320995"	"1"	"03865"	"03865"	"2012-06-23 15:03:25"	"00085"	"2013-08-23 13:39:25"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322185"	"00320996"	"1"	"00085"	"00085"	"2008-03-04 12:50:29"	"00085"	"2013-03-18 15:10:53"	"?"	"?"	""	""
"0000322186"	"00320997"	"1"	"00085"	"00085"	"2008-03-04 12:55:22"	"00085"	"2013-03-18 15:12:19"	"SEQ;CSGE"	"DNA"	""	""
"0000322187"	"00320998"	"1"	"03894"	"03894"	"2018-09-27 10:36:01"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000322188"	"00320999"	"1"	"00085"	"00085"	"2008-03-04 13:07:21"	"00085"	"2013-03-18 15:13:50"	"SEQ;CSGE"	"RNA"	""	""
"0000322189"	"00321000"	"1"	"00475"	"00475"	"2010-01-13 12:52:07"	""	""	"SEQ"	"DNA"	""	""
"0000322190"	"00321001"	"1"	"03704"	"00085"	"2008-03-04 13:21:23"	"00085"	"2013-03-18 15:17:54"	"?"	"?"	""	""
"0000322191"	"00321002"	"1"	"03704"	"00085"	"2008-03-04 13:22:43"	"00085"	"2013-03-18 15:19:13"	"?"	"?"	""	""
"0000322192"	"00321003"	"1"	"00085"	"00085"	"2018-01-18 15:18:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322193"	"00321004"	"1"	"00085"	"00085"	"2008-03-04 13:45:32"	"00085"	"2013-05-08 13:53:58"	"SEQ;SSCA"	"RNA"	""	""
"0000322194"	"00321005"	"1"	"00085"	"00085"	"2008-03-04 13:49:46"	"00085"	"2013-05-08 13:54:39"	"SEQ;SSCA"	"RNA"	""	""
"0000322195"	"00321006"	"1"	"00085"	"00085"	"2008-03-04 13:52:52"	"00085"	"2013-05-08 13:55:30"	"DHPLC;SEQ"	"RNA"	""	""
"0000322196"	"00321007"	"1"	"03702"	"03702"	"2008-09-03 13:40:07"	"00085"	"2012-03-07 13:42:44"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000322197"	"00321008"	"1"	"00085"	"00085"	"2015-04-28 12:59:40"	"00085"	"2015-05-21 16:07:54"	"PCR;SEQ"	"DNA"	""	""
"0000322198"	"00321009"	"1"	"03883"	"03883"	"2016-08-08 09:22:26"	"00085"	"2020-06-08 12:04:47"	"PCR;SEQ"	"DNA"	""	""
"0000322199"	"00321010"	"1"	"03883"	"03883"	"2016-08-08 09:38:35"	"00085"	"2016-08-08 15:12:46"	"PCR;SEQ"	"DNA"	""	""
"0000322200"	"00321011"	"1"	"00085"	"00085"	"2008-03-04 13:32:26"	"00085"	"2013-03-18 15:21:29"	"?"	"?"	""	""
"0000322201"	"00321012"	"1"	"03894"	"03894"	"2018-09-27 12:34:18"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322202"	"00321013"	"1"	"00085"	"00085"	"2018-01-18 15:43:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322203"	"00321014"	"1"	"03870"	"03870"	"2017-03-01 09:44:53"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322204"	"00321015"	"1"	"03704"	"00085"	"2008-06-13 15:58:17"	"00085"	"2013-03-18 15:23:15"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000322205"	"00321016"	"1"	"00085"	"00085"	"2008-07-30 08:47:39"	"00085"	"2013-03-19 08:49:31"	"RT-PCR;SEQ"	"RNA"	""	""
"0000322206"	"00321017"	"1"	"03704"	"00085"	"2009-02-25 11:56:35"	"00085"	"2013-03-19 08:50:15"	"PCR;SEQ"	"DNA"	""	""
"0000322207"	"00321018"	"1"	"03704"	"00085"	"2008-07-30 08:51:30"	"00085"	"2015-04-17 15:35:44"	"?"	"?"	""	""
"0000322208"	"00321019"	"1"	"03872"	"03872"	"2014-11-02 11:56:41"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000322209"	"00321020"	"1"	"03885"	"03885"	"2016-09-30 20:29:59"	"00085"	"2017-03-13 16:00:57"	"SEQ-NG"	"DNA"	""	""
"0000322210"	"00321021"	"1"	"00085"	"00085"	"2018-01-18 13:29:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322211"	"00321022"	"1"	"00085"	"00085"	"2008-03-04 15:36:59"	"00085"	"2013-03-18 15:25:11"	"SEQ"	"DNA"	""	""
"0000322212"	"00321023"	"1"	"03855"	"03855"	"2009-12-30 11:31:49"	""	""	"SEQ"	"DNA"	""	""
"0000322213"	"00321024"	"1"	"00475"	"00475"	"2010-01-13 12:54:08"	""	""	"SEQ"	"DNA"	""	""
"0000322214"	"00321025"	"1"	"00085"	"00085"	"2015-03-10 11:15:00"	"00085"	"2016-02-16 13:40:24"	"PCR;SEQ;arraySEQ"	"DNA"	""	""
"0000322215"	"00321026"	"1"	"03894"	"03894"	"2018-09-25 12:29:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322216"	"00321027"	"1"	"03894"	"03894"	"2018-09-27 12:40:05"	"00006"	"2021-10-30 10:44:54"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000322217"	"00321028"	"1"	"03862"	"03862"	"2011-02-03 08:12:04"	"00085"	"2012-08-01 11:43:42"	"SEQ"	"DNA"	""	""
"0000322218"	"00321029"	"1"	"03704"	"00085"	"2008-03-04 13:34:32"	"00085"	"2013-03-18 15:26:43"	"?"	"?"	""	""
"0000322219"	"00321030"	"1"	"03879"	"03879"	"2014-12-09 09:25:11"	"00085"	"2015-08-07 14:47:38"	"PCR;SEQ"	"DNA"	""	""
"0000322220"	"00321031"	"1"	"03704"	"00085"	"2008-03-04 13:55:44"	"00085"	"2013-03-19 08:27:18"	"?"	"?"	""	""
"0000322221"	"00321032"	"1"	"00085"	"00085"	"2008-03-04 13:56:44"	"00085"	"2013-03-19 08:28:13"	"?"	"?"	""	""
"0000322224"	"00321035"	"1"	"00085"	"00085"	"2008-03-04 15:42:32"	"00085"	"2013-03-19 08:30:30"	"?"	"?"	""	""
"0000322225"	"00321036"	"1"	"00085"	"00085"	"2008-03-04 15:44:01"	"00085"	"2013-03-19 08:31:31"	"?"	"?"	""	""
"0000322226"	"00321037"	"1"	"03879"	"03879"	"2014-12-04 09:27:46"	"00085"	"2015-08-10 09:38:24"	"PCR;SEQ"	"DNA"	""	""
"0000322227"	"00321038"	"1"	"00085"	"00085"	"2018-01-19 08:29:50"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322228"	"00321039"	"1"	"00085"	"00085"	"2014-08-05 14:26:01"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000322229"	"00321040"	"1"	"03853"	"03853"	"2009-12-18 15:12:21"	""	""	"SEQ"	"DNA"	""	""
"0000322230"	"00321041"	"1"	"03853"	"03853"	"2009-04-03 13:57:54"	""	""	"SEQ"	"DNA"	""	""
"0000322231"	"00321042"	"1"	"03704"	"00085"	"2008-03-04 15:57:43"	"00085"	"2013-03-19 08:35:14"	"SEQ"	"RNA"	""	""
"0000322232"	"00321043"	"1"	"03704"	"00085"	"2008-03-04 15:59:12"	"00085"	"2013-03-19 08:35:55"	"SEQ"	"RNA"	""	""
"0000322233"	"00321044"	"1"	"00085"	"00085"	"2008-03-04 16:05:10"	"00085"	"2013-03-19 08:37:00"	"SEQ"	"RNA"	""	""
"0000322234"	"00321045"	"1"	"03704"	"00085"	"2008-03-04 16:28:12"	"00085"	"2013-03-19 08:37:49"	"?"	"?"	""	""
"0000322235"	"00321046"	"1"	"03704"	"00085"	"2008-03-04 16:29:03"	"00085"	"2013-03-19 08:38:36"	"?"	"?"	""	""
"0000322236"	"00321047"	"1"	"03704"	"00085"	"2008-03-04 16:29:55"	"00085"	"2013-03-19 08:39:16"	"?"	"?"	""	""
"0000322237"	"00321048"	"1"	"00085"	"00085"	"2008-03-04 16:30:53"	"00085"	"2013-03-19 08:40:34"	"?"	"?"	""	""
"0000322238"	"00321049"	"1"	"00085"	"00085"	"2008-03-04 16:31:52"	"00085"	"2013-03-19 08:41:29"	"?"	"?"	""	""
"0000322239"	"00321050"	"1"	"03855"	"03855"	"2009-12-29 13:34:11"	""	""	"SEQ"	"DNA"	""	""
"0000322240"	"00321051"	"1"	"03879"	"03879"	"2014-12-02 10:38:13"	"00085"	"2015-08-07 14:48:05"	"PCR"	"DNA"	""	""
"0000322241"	"00321052"	"1"	"03879"	"03879"	"2014-12-05 13:29:50"	"00085"	"2015-08-07 14:49:10"	"PCR;SEQ"	"DNA"	""	""
"0000322242"	"00321053"	"1"	"03870"	"03870"	"2017-03-01 09:45:57"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322243"	"00321054"	"1"	"03894"	"03894"	"2018-09-27 12:06:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322244"	"00321055"	"1"	"00085"	"00085"	"2019-08-15 16:17:11"	"00085"	"2019-08-28 16:00:34"	"SEQ-NG"	"DNA"	""	""
"0000322245"	"00321056"	"1"	"00085"	"00085"	"2014-08-05 16:06:25"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000322246"	"00321057"	"1"	"03885"	"03885"	"2016-09-30 20:44:10"	""	""	"SEQ"	"DNA"	""	""
"0000322247"	"00321058"	"1"	"00085"	"00085"	"2008-03-05 08:44:48"	"00085"	"2013-03-19 08:42:56"	"SEQ;SSCA"	"RNA"	""	""
"0000322248"	"00321059"	"1"	"03894"	"03894"	"2018-09-27 12:30:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322249"	"00321060"	"1"	"00085"	"00085"	"2008-05-09 10:22:31"	"00085"	"2013-03-19 08:44:55"	"PCR;SEQ"	"DNA"	""	""
"0000322250"	"00321061"	"1"	"03704"	"00085"	"2008-05-09 10:17:48"	"00085"	"2013-03-19 08:47:04"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000322251"	"00321062"	"1"	"03879"	"03879"	"2014-12-05 13:39:56"	"00085"	"2015-08-10 09:37:48"	"PCR;SEQ"	"DNA"	""	""
"0000322252"	"00321063"	"1"	"00085"	"00085"	"2018-01-19 08:16:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322253"	"00321064"	"1"	"03885"	"03885"	"2016-09-30 20:49:32"	"00085"	"2017-03-13 16:04:25"	"SEQ-NG"	"DNA"	""	""
"0000322254"	"00321065"	"1"	"03865"	"03865"	"2012-06-23 15:10:59"	"00085"	"2013-08-23 13:39:57"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322255"	"00321066"	"1"	"00085"	"00085"	"2008-07-30 09:05:29"	"00085"	"2013-03-19 08:51:10"	"RT-PCR;SEQ;CSGE"	"RNA"	""	""
"0000322256"	"00321067"	"1"	"00085"	"00085"	"2008-07-30 09:08:28"	"00085"	"2013-05-08 13:58:15"	"?"	"?"	""	""
"0000322257"	"00321068"	"1"	"03870"	"03870"	"2010-04-19 15:31:14"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322258"	"00321069"	"1"	"03870"	"03870"	"2017-03-02 10:43:47"	""	""	"SEQ"	"DNA"	""	""
"0000322259"	"00321070"	"1"	"03870"	"03870"	"2017-03-02 10:44:49"	""	""	"SEQ"	"DNA"	""	""
"0000322260"	"00321071"	"1"	"00085"	"00085"	"2008-07-30 09:10:13"	"00085"	"2013-03-19 08:53:56"	"?"	"?"	""	""
"0000322261"	"00321072"	"1"	"03894"	"03894"	"2018-09-27 14:00:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322262"	"00321073"	"1"	"00085"	"00085"	"2008-03-05 08:57:48"	"00085"	"2013-03-19 08:54:59"	"?"	"?"	""	""
"0000322263"	"00321074"	"1"	"03855"	"03855"	"2009-12-29 13:36:44"	""	""	"SEQ"	"DNA"	""	""
"0000322264"	"00321075"	"1"	"00085"	"00085"	"2014-04-02 09:10:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322265"	"00321076"	"1"	"00085"	"00085"	"2008-03-05 08:55:56"	"00085"	"2013-03-19 08:56:54"	"?"	"?"	""	""
"0000322266"	"00321077"	"1"	"00085"	"00085"	"2015-12-09 16:05:09"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322267"	"00321078"	"1"	"03856"	"03856"	"2009-09-21 15:48:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322268"	"00321079"	"1"	"03872"	"03872"	"2014-11-02 12:03:31"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000322269"	"00321080"	"1"	"03894"	"03894"	"2018-09-27 12:41:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322270"	"00321081"	"1"	"00475"	"00475"	"2010-01-13 12:58:55"	""	""	"SEQ"	"DNA"	""	""
"0000322271"	"00321082"	"1"	"03885"	"03885"	"2016-09-30 20:54:32"	""	""	"SEQ"	"DNA"	""	""
"0000322272"	"00321083"	"1"	"00085"	"00085"	"2008-08-04 09:00:09"	"00085"	"2013-03-19 08:59:52"	"PCR;SEQ;EMC"	"DNA"	""	""
"0000322273"	"00321084"	"1"	"00085"	"00085"	"2015-07-27 15:49:44"	""	""	"SEQ-NG"	"DNA"	""	""
"0000322274"	"00321085"	"1"	"00085"	"00085"	"2008-03-05 09:05:41"	"00085"	"2013-03-18 16:05:51"	"SEQ;SSCA"	"RNA"	""	""
"0000322275"	"00321086"	"1"	"00085"	"00085"	"2008-03-05 09:07:37"	"00085"	"2013-03-19 09:02:00"	"?"	"?"	""	""
"0000322276"	"00321087"	"1"	"00085"	"00085"	"2012-10-03 11:37:13"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000322277"	"00321088"	"1"	"00085"	"00085"	"2018-08-01 15:29:33"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322278"	"00321089"	"1"	"00085"	"00085"	"2008-07-30 09:12:50"	"00085"	"2013-03-19 09:03:24"	"?"	"?"	""	""
"0000322279"	"00321090"	"1"	"00085"	"00085"	"2014-04-02 09:12:38"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322280"	"00321091"	"1"	"03870"	"03870"	"2017-03-02 10:46:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322282"	"00321093"	"1"	"00085"	"00085"	"2019-09-04 10:48:23"	"00085"	"2019-09-04 11:56:44"	"SSCA"	"DNA"	""	""
"0000322283"	"00321094"	"1"	"00085"	"00085"	"2008-07-30 09:18:53"	"00085"	"2013-03-19 09:04:41"	"PCR;SEQ"	"DNA"	""	""
"0000322284"	"00321095"	"1"	"00085"	"00085"	"2008-07-30 09:20:35"	"00085"	"2013-03-19 09:05:55"	"?"	"?"	""	""
"0000322285"	"00321096"	"1"	"03704"	"00085"	"2008-07-30 09:30:35"	"00085"	"2013-03-19 09:08:25"	"?"	"?"	""	""
"0000322286"	"00321097"	"1"	"00085"	"00085"	"2016-06-14 13:50:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322287"	"00321098"	"1"	"00085"	"00085"	"2008-03-05 10:23:26"	"00085"	"2013-03-19 09:09:43"	"?"	"?"	""	""
"0000322288"	"00321099"	"1"	"00085"	"00085"	"2008-03-05 11:25:49"	"00085"	"2013-03-18 15:42:49"	"DHPLC;SEQ"	"DNA"	""	""
"0000322289"	"00321100"	"1"	"01819"	"01819"	"2011-09-21 13:03:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322290"	"00321101"	"1"	"03879"	"03879"	"2014-12-05 13:58:00"	"00085"	"2015-08-10 10:22:03"	"PCR;SEQ"	"DNA"	""	""
"0000322291"	"00321102"	"1"	"03870"	"03870"	"2017-03-02 10:47:13"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322292"	"00321103"	"1"	"00085"	"00085"	"2008-03-05 10:10:05"	"00085"	"2013-03-19 09:10:48"	"SEQ;SEQ"	"DNA;RNA;protein"	""	""
"0000322293"	"00321104"	"1"	"03704"	"00085"	"2008-03-05 10:20:08"	"00085"	"2013-03-19 09:11:29"	"?"	"?"	""	""
"0000322294"	"00321105"	"1"	"03897"	"03897"	"2020-04-11 12:06:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322295"	"00321106"	"1"	"03704"	"00085"	"2009-02-13 13:10:12"	"00085"	"2013-03-19 09:13:39"	"PCR;SEQ"	"DNA"	""	""
"0000322296"	"00321107"	"1"	"00085"	"00085"	"2012-08-08 10:18:26"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322297"	"00321108"	"1"	"03894"	"03894"	"2018-09-27 11:42:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322298"	"00321109"	"1"	"03894"	"03894"	"2018-09-27 13:50:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322299"	"00321110"	"1"	"00085"	"00085"	"2008-03-05 10:32:26"	"00085"	"2013-03-19 09:15:53"	"SEQ;CMC"	"RNA"	""	""
"0000322300"	"00321111"	"1"	"03871"	"03871"	"2013-09-16 14:33:02"	""	""	"SEQ"	"DNA"	""	""
"0000322301"	"00321112"	"1"	"03871"	"03871"	"2013-09-16 14:34:54"	""	""	"SEQ"	"DNA"	""	""
"0000322302"	"00321113"	"1"	"00085"	"00085"	"2018-01-18 12:24:18"	"00085"	"2018-01-18 12:26:27"	"PCR;SEQ"	"DNA"	""	""
"0000322303"	"00321114"	"1"	"00085"	"00085"	"2014-11-05 08:30:02"	""	""	"SEQ"	"DNA"	""	""
"0000322304"	"00321115"	"1"	"00085"	"00085"	"2008-03-05 11:35:56"	"00085"	"2013-03-19 09:17:51"	"SEQ;CSGE"	"DNA"	""	""
"0000322305"	"00321116"	"1"	"00085"	"00085"	"2008-03-05 11:39:43"	"00085"	"2012-05-30 13:03:36"	"CSGE;SEQ"	"DNA"	""	""
"0000322306"	"00321117"	"1"	"03704"	"00085"	"2008-03-05 11:43:58"	"00085"	"2013-03-19 09:18:37"	"DGGE;SEQ"	"DNA"	""	""
"0000322307"	"00321118"	"1"	"00085"	"00085"	"2008-03-10 10:46:32"	"00085"	"2014-04-07 09:01:15"	"PCR;SEQ"	"DNA"	""	""
"0000322308"	"00321119"	"1"	"03853"	"03853"	"2009-12-18 15:23:14"	""	""	"SEQ"	"DNA"	""	""
"0000322309"	"00321120"	"1"	"00475"	"00475"	"2010-01-14 16:35:53"	""	""	"SEQ"	"DNA"	""	""
"0000322310"	"00321121"	"1"	"03862"	"03862"	"2011-02-03 07:57:19"	"00085"	"2012-08-01 11:44:12"	"SEQ"	"DNA"	""	""
"0000322311"	"00321122"	"1"	"00085"	"00085"	"2011-06-17 16:45:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322312"	"00321123"	"1"	"03879"	"03879"	"2014-12-05 10:15:25"	"00085"	"2015-08-10 10:21:28"	"PCR;SEQ"	"DNA"	""	""
"0000322313"	"00321124"	"1"	"00085"	"00085"	"2017-04-24 14:36:58"	"00085"	"2017-04-24 14:37:17"	"SEQ"	"DNA"	""	""
"0000322314"	"00321125"	"1"	"00085"	"00085"	"2019-08-29 14:30:19"	"00085"	"2020-03-25 09:17:17"	"SEQ"	"DNA"	""	""
"0000322316"	"00321127"	"1"	"03897"	"03897"	"2020-04-11 10:43:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322317"	"00321128"	"1"	"03894"	"03894"	"2018-09-27 11:35:41"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322319"	"00321130"	"1"	"01819"	"01819"	"2011-09-21 13:05:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322320"	"00321131"	"1"	"03879"	"03879"	"2014-12-08 08:54:21"	"00085"	"2015-08-10 10:20:54"	"PCR;SEQ"	"DNA"	""	""
"0000322321"	"00321132"	"1"	"03894"	"03894"	"2018-09-26 12:42:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322322"	"00321133"	"1"	"00085"	"00085"	"2008-03-05 11:48:07"	"00085"	"2013-03-19 09:21:15"	"?"	"?"	""	""
"0000322323"	"00321134"	"1"	"03704"	"00085"	"2008-03-05 10:50:58"	"00085"	"2013-03-19 09:22:43"	"?"	"?"	""	""
"0000322324"	"00321135"	"1"	"03853"	"03853"	"2009-02-04 16:01:56"	""	""	"SEQ"	"DNA"	""	""
"0000322325"	"00321136"	"1"	"03870"	"03870"	"2009-02-05 15:28:05"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322326"	"00321137"	"1"	"03853"	"03853"	"2009-02-06 13:24:12"	""	""	"SEQ"	"DNA"	""	""
"0000322327"	"00321138"	"1"	"03894"	"03894"	"2018-09-21 13:19:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322328"	"00321139"	"1"	"00085"	"00085"	"2008-03-05 11:54:20"	"00085"	"2013-03-19 09:24:29"	"?"	"?"	""	""
"0000322329"	"00321140"	"1"	"03866"	"03866"	"2012-08-30 10:50:10"	"00085"	"2014-04-02 09:31:12"	"SEQ"	"DNA"	""	""
"0000322330"	"00321141"	"1"	"00085"	"00085"	"2018-01-18 15:01:33"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322331"	"00321142"	"1"	"01819"	"01819"	"2011-09-21 13:07:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322332"	"00321143"	"1"	"03894"	"03894"	"2018-09-27 10:45:51"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000322333"	"00321144"	"1"	"03704"	"00085"	"2009-02-13 13:16:47"	"00085"	"2013-03-19 09:30:00"	"PCR;SEQ"	"DNA"	""	""
"0000322334"	"00321145"	"1"	"00085"	"00085"	"2008-03-05 11:52:09"	"00085"	"2013-03-19 09:28:23"	"?"	"?"	""	""
"0000322335"	"00321146"	"1"	"00085"	"00085"	"2011-06-17 16:47:15"	"00085"	"2011-06-17 16:51:42"	"PCR;SEQ"	"DNA"	""	""
"0000322336"	"00321147"	"1"	"00085"	"00085"	"2015-11-26 11:31:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322337"	"00321148"	"1"	"03855"	"03855"	"2009-12-29 13:39:25"	""	""	"SEQ"	"DNA"	""	""
"0000322338"	"00321149"	"1"	"00085"	"00085"	"2014-04-02 13:47:46"	"00085"	"2014-04-02 13:48:46"	"PCR;SEQ"	"DNA"	""	""
"0000322340"	"00321151"	"1"	"03704"	"00085"	"2008-05-09 15:29:27"	"00085"	"2013-03-19 09:32:58"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000322341"	"00321152"	"1"	"03853"	"03853"	"2009-05-20 14:38:09"	"00085"	"2013-03-19 09:33:31"	"SEQ"	"DNA"	""	""
"0000322342"	"00321153"	"1"	"03704"	"00085"	"2008-05-09 15:34:21"	"00085"	"2013-03-19 09:35:02"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000322343"	"00321154"	"1"	"03879"	"03879"	"2014-12-02 11:01:38"	"00085"	"2015-08-10 10:20:20"	"PCR"	"DNA"	""	""
"0000322344"	"00321155"	"1"	"03879"	"03879"	"2014-12-03 09:25:36"	"00085"	"2015-08-10 10:19:37"	"PCR"	"DNA"	""	""
"0000322345"	"00321156"	"1"	"03879"	"03879"	"2014-12-03 11:06:04"	"00085"	"2015-08-10 10:19:01"	"PCR"	"DNA"	""	""
"0000322346"	"00321157"	"1"	"03879"	"03879"	"2014-12-04 09:32:03"	"00085"	"2015-08-10 10:18:25"	"PCR;SEQ"	"DNA"	""	""
"0000322347"	"00321158"	"1"	"03879"	"03879"	"2014-12-08 16:13:44"	"00085"	"2015-08-10 10:17:56"	"PCR;SEQ"	"DNA"	""	""
"0000322348"	"00321159"	"1"	"03879"	"03879"	"2014-12-08 16:14:41"	"00085"	"2015-08-10 10:17:23"	"PCR;SEQ"	"DNA"	""	""
"0000322349"	"00321160"	"1"	"00085"	"00085"	"2008-04-07 15:34:50"	"00085"	"2013-03-19 09:36:47"	"PCR;SEQ"	"DNA"	""	""
"0000322350"	"00321161"	"1"	"03704"	"00085"	"2008-05-09 15:38:31"	"00085"	"2013-03-19 09:37:25"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000322351"	"00321162"	"1"	"03855"	"03855"	"2009-12-29 13:45:17"	""	""	"SEQ"	"DNA"	""	""
"0000322352"	"00321163"	"1"	"03855"	"03855"	"2009-12-30 11:30:25"	""	""	"SEQ"	"DNA"	""	""
"0000322353"	"00321164"	"1"	"00475"	"00475"	"2010-01-14 16:39:12"	""	""	"SEQ"	"DNA"	""	""
"0000322354"	"00321165"	"1"	"00475"	"00475"	"2010-01-14 16:42:47"	""	""	"SEQ"	"DNA"	""	""
"0000322355"	"00321166"	"1"	"00085"	"00085"	"2011-06-17 16:51:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322356"	"00321167"	"1"	"03870"	"03870"	"2017-03-10 09:02:24"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322357"	"00321168"	"1"	"03870"	"03870"	"2017-03-10 09:03:36"	""	""	"SEQ"	"DNA"	""	""
"0000322358"	"00321169"	"1"	"03894"	"03894"	"2018-09-27 13:13:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322359"	"00321170"	"1"	"03897"	"00085"	"2019-08-28 15:17:55"	""	""	"SEQ"	"DNA"	""	""
"0000322361"	"00321172"	"1"	"03885"	"03885"	"2016-10-04 14:42:56"	""	""	"SEQ"	"DNA"	""	""
"0000322362"	"00321173"	"1"	"03865"	"03865"	"2012-06-23 15:14:00"	"00085"	"2013-08-23 13:40:18"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322363"	"00321174"	"1"	"03704"	"00085"	"2008-03-05 15:56:54"	"00085"	"2013-03-19 09:40:04"	"?"	"?"	""	""
"0000322364"	"00321175"	"1"	"03866"	"03866"	"2012-08-30 16:23:21"	"00085"	"2014-04-02 08:57:01"	"SEQ"	"DNA"	""	""
"0000322365"	"00321176"	"1"	"03872"	"03872"	"2013-06-09 06:49:45"	""	""	"SEQ"	"DNA"	""	""
"0000322366"	"00321177"	"1"	"03894"	"03894"	"2018-09-26 13:17:53"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322367"	"00321178"	"1"	"03704"	"00085"	"2008-03-05 15:59:15"	"00085"	"2013-03-19 09:41:34"	"?"	"?"	""	""
"0000322370"	"00321181"	"1"	"00085"	"00085"	"2008-03-05 16:01:50"	"00085"	"2013-03-19 09:43:12"	"?"	"?"	""	""
"0000322371"	"00321182"	"1"	"00085"	"00085"	"2008-03-06 10:21:26"	"00085"	"2013-03-19 09:44:41"	"?"	"?"	""	""
"0000322372"	"00321183"	"1"	"03704"	"00085"	"2008-03-05 16:38:05"	"00085"	"2013-03-19 09:47:36"	"?"	"?"	""	""
"0000322373"	"00321184"	"1"	"03704"	"00085"	"2008-03-05 16:41:38"	"00085"	"2013-03-19 09:48:13"	"?"	"?"	""	""
"0000322374"	"00321185"	"1"	"03704"	"00085"	"2008-03-05 16:42:37"	"00085"	"2013-03-19 09:48:51"	"?"	"?"	""	""
"0000322375"	"00321186"	"1"	"03872"	"03872"	"2013-12-13 14:37:25"	""	""	"SEQ"	"DNA"	""	""
"0000322376"	"00321187"	"1"	"00085"	"00085"	"2015-03-10 10:14:06"	"00085"	"2016-02-16 13:37:31"	"PCR;SEQ;arraySEQ"	"DNA"	""	""
"0000322377"	"00321188"	"1"	"00085"	"00085"	"2015-03-10 10:15:35"	"00085"	"2016-02-16 13:38:02"	"PCR;SEQ;arraySEQ"	"DNA"	""	""
"0000322378"	"00321189"	"1"	"03870"	"03870"	"2017-03-10 09:04:44"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322379"	"00321190"	"1"	"03870"	"03870"	"2017-03-10 09:05:46"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322380"	"00321191"	"1"	"00085"	"00085"	"2017-03-15 15:45:48"	"00085"	"2017-03-15 15:51:14"	"SEQ-NG"	"DNA"	""	""
"0000322381"	"00321192"	"1"	"03894"	"03894"	"2018-09-27 12:28:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322382"	"00321193"	"1"	"03894"	"03894"	"2018-09-27 12:38:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322383"	"00321194"	"1"	"03894"	"03894"	"2018-09-27 13:51:04"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322385"	"00321196"	"1"	"03704"	"00085"	"2008-07-30 09:41:43"	"00085"	"2013-03-19 09:50:36"	"PCR;SEQ"	"DNA"	""	""
"0000322386"	"00321197"	"1"	"00085"	"00085"	"2008-07-30 09:46:12"	"00085"	"2013-03-19 09:51:57"	"PCR;SEQ"	"DNA"	""	""
"0000322387"	"00321198"	"1"	"00085"	"00085"	"2008-07-30 09:48:30"	"00085"	"2013-03-19 09:52:43"	"?"	"?"	""	""
"0000322388"	"00321199"	"1"	"00085"	"00085"	"2008-07-30 09:50:35"	"00085"	"2013-03-19 09:53:21"	"PCR;SEQ"	"DNA"	""	""
"0000322389"	"00321200"	"1"	"03870"	"03870"	"2017-03-10 09:07:07"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322390"	"00321201"	"1"	"00085"	"00085"	"2017-03-15 15:54:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000322391"	"00321202"	"1"	"03897"	"00085"	"2019-08-28 15:09:55"	""	""	"SEQ"	"DNA"	""	""
"0000322392"	"00321203"	"1"	"03894"	"03894"	"2018-09-27 13:05:38"	"03894"	"2018-09-27 14:42:18"	"PCR;SEQ"	"DNA"	""	""
"0000322393"	"00321204"	"1"	"00085"	"00085"	"2008-07-30 09:55:44"	"00085"	"2013-03-19 09:54:19"	"PCR;SEQ"	"DNA"	""	""
"0000322394"	"00321205"	"1"	"00085"	"00085"	"2015-12-09 16:12:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322395"	"00321206"	"1"	"00085"	"00085"	"2014-08-05 14:17:52"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000322396"	"00321207"	"1"	"03855"	"03855"	"2009-12-29 13:49:11"	""	""	"SEQ"	"DNA"	""	""
"0000322397"	"00321208"	"1"	"00085"	"00085"	"2008-03-06 14:40:30"	"00085"	"2013-04-04 13:20:12"	"?"	"?"	""	""
"0000322398"	"00321209"	"1"	"03865"	"03865"	"2013-08-22 09:43:02"	"00085"	"2013-08-23 13:52:54"	"PCR;SEQ"	"DNA"	""	""
"0000322399"	"00321210"	"1"	"03865"	"03865"	"2013-08-22 09:45:03"	"00085"	"2013-08-23 13:53:23"	"PCR;SEQ"	"DNA"	""	""
"0000322400"	"00321211"	"1"	"00085"	"00085"	"2018-01-19 08:20:51"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322401"	"00321212"	"1"	"03894"	"03894"	"2018-09-27 10:52:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322402"	"00321213"	"1"	"00085"	"00085"	"2008-03-06 10:29:40"	"00085"	"2013-04-04 13:26:18"	"SEQ;CMC"	"RNA"	""	""
"0000322403"	"00321214"	"1"	"00085"	"00085"	"2008-03-06 12:05:59"	"00085"	"2013-04-04 13:31:32"	"?"	"?"	""	""
"0000322404"	"00321215"	"1"	"03704"	"00085"	"2008-03-06 14:38:41"	"00085"	"2013-04-04 13:33:30"	"?"	"?"	""	""
"0000322405"	"00321216"	"1"	"00085"	"00085"	"2018-01-19 08:19:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322407"	"00321218"	"1"	"03855"	"03855"	"2009-12-29 13:51:19"	""	""	"SEQ"	"DNA"	""	""
"0000322408"	"00321219"	"1"	"03704"	"00085"	"2009-02-13 14:43:16"	"00085"	"2013-04-04 13:43:30"	"PCR;SEQ"	"DNA"	""	""
"0000322409"	"00321220"	"1"	"00085"	"00085"	"2018-05-30 13:16:43"	"00085"	"2018-05-30 13:37:23"	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000322410"	"00321221"	"1"	"03865"	"03865"	"2012-06-23 15:17:42"	"00085"	"2013-08-23 13:40:37"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322411"	"00321222"	"1"	"00085"	"00085"	"2008-03-06 14:42:06"	"00085"	"2013-04-04 13:47:37"	"?"	"?"	""	""
"0000322412"	"00321223"	"1"	"00085"	"00085"	"2008-03-06 14:44:17"	"00085"	"2013-04-04 13:51:23"	"?"	"?"	""	""
"0000322413"	"00321224"	"1"	"00085"	"00085"	"2018-08-03 08:28:19"	"00085"	"2018-08-03 08:41:28"	"PCR;SEQ"	"DNA"	""	""
"0000322414"	"00321225"	"1"	"03897"	"03897"	"2020-04-11 16:23:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322415"	"00321226"	"1"	"03704"	"00085"	"2008-03-06 14:57:05"	"00085"	"2013-04-04 13:57:36"	"?"	"?"	""	""
"0000322416"	"00321227"	"1"	"03704"	"00085"	"2008-03-06 15:11:08"	"00085"	"2013-04-04 13:59:02"	"SEQ;SSCA"	"RNA"	""	""
"0000322417"	"00321228"	"1"	"03704"	"00085"	"2008-03-06 15:12:24"	"00085"	"2013-04-04 13:59:39"	"?"	"?"	""	""
"0000322418"	"00321229"	"1"	"00085"	"00085"	"2008-03-06 15:02:48"	"00085"	"2013-04-04 14:01:08"	"SEQ;SSCA"	"RNA"	""	""
"0000322419"	"00321230"	"1"	"00085"	"00085"	"2008-03-06 15:05:18"	"00085"	"2013-04-04 14:02:03"	"?"	"?"	""	""
"0000322420"	"00321231"	"1"	"00085"	"00085"	"2018-01-18 12:19:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322421"	"00321232"	"1"	"00635"	"00635"	"2009-04-08 12:49:43"	"00085"	"2009-04-08 13:16:55"	"PCR;SEQ"	"DNA"	""	""
"0000322422"	"00321233"	"1"	"03870"	"03870"	"2008-10-27 14:53:28"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322423"	"00321234"	"1"	"01819"	"01819"	"2016-11-28 11:54:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322425"	"00321236"	"1"	"03853"	"03853"	"2008-11-05 18:02:21"	"00085"	"2008-11-18 16:35:07"	"SEQ"	"DNA"	""	""
"0000322426"	"00321237"	"1"	"03894"	"03894"	"2018-09-25 14:12:04"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322427"	"00321238"	"1"	"00085"	"00085"	"2008-07-30 10:52:43"	"00085"	"2012-07-30 13:52:18"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322428"	"00321239"	"1"	"03872"	"03872"	"2014-11-02 11:44:35"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000322429"	"00321240"	"1"	"00085"	"00085"	"2014-11-05 08:44:34"	""	""	"SEQ"	"DNA"	""	""
"0000322430"	"00321241"	"1"	"03879"	"03879"	"2014-12-08 09:00:48"	"00085"	"2015-08-10 10:17:08"	"PCR;SEQ"	"DNA"	""	""
"0000322431"	"00321242"	"1"	"03879"	"03879"	"2014-12-08 14:53:02"	"00085"	"2015-08-10 10:16:16"	"PCR;SEQ"	"DNA"	""	""
"0000322432"	"00321243"	"1"	"03894"	"03894"	"2018-09-21 13:23:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322433"	"00321244"	"1"	"03704"	"00085"	"2008-03-07 14:37:46"	"00085"	"2013-04-24 10:46:01"	"?"	"?"	""	""
"0000322434"	"00321245"	"1"	"00085"	"00085"	"2008-03-07 14:40:35"	"00085"	"2013-05-08 13:59:50"	"?"	"?"	""	""
"0000322435"	"00321246"	"1"	"03704"	"00085"	"2008-03-07 14:44:28"	"00085"	"2013-05-02 13:25:20"	"?"	"?"	""	""
"0000322436"	"00321247"	"1"	"00475"	"00475"	"2010-01-14 16:44:54"	""	""	"SEQ"	"DNA"	""	""
"0000322437"	"00321248"	"1"	"00085"	"00085"	"2014-08-05 11:39:19"	"00085"	"2014-08-05 13:55:43"	"PCRm;SEQ"	"DNA"	""	""
"0000322438"	"00321249"	"1"	"00085"	"00085"	"2008-03-07 16:01:18"	"00085"	"2013-05-02 13:29:07"	"?"	"?"	""	""
"0000322439"	"00321250"	"1"	"00475"	"00475"	"2010-01-14 16:47:09"	""	""	"SEQ"	"DNA"	""	""
"0000322440"	"00321251"	"1"	"00085"	"00085"	"2008-03-10 09:13:47"	"00085"	"2013-05-02 13:31:26"	"?"	"?"	""	""
"0000322441"	"00321252"	"1"	"00085"	"00085"	"2008-03-07 16:08:31"	"00085"	"2013-05-02 13:33:16"	"SEQ;HD;SSCA"	"RNA"	""	""
"0000322442"	"00321253"	"1"	"03855"	"03855"	"2009-12-29 13:59:53"	""	""	"SEQ"	"DNA"	""	""
"0000322443"	"00321254"	"1"	"00085"	"00085"	"2008-03-10 09:17:11"	"00085"	"2013-04-24 10:51:22"	"CSGE;SEQ"	"RNA"	""	""
"0000322444"	"00321255"	"1"	"00475"	"00475"	"2010-01-14 16:49:00"	""	""	"SEQ"	"DNA"	""	""
"0000322445"	"00321256"	"1"	"03704"	"00085"	"2008-03-10 09:18:53"	"00085"	"2013-05-02 13:37:36"	"?"	"?"	""	""
"0000322447"	"00321258"	"1"	"00085"	"00085"	"2008-03-10 09:20:51"	"00085"	"2013-05-02 13:43:43"	"?"	"?"	""	""
"0000322448"	"00321259"	"1"	"00475"	"00475"	"2010-01-14 16:52:01"	""	""	"SEQ"	"DNA"	""	""
"0000322449"	"00321260"	"1"	"00085"	"00085"	"2008-03-10 09:38:43"	"00085"	"2013-04-24 09:35:07"	"?"	"?"	""	""
"0000322450"	"00321261"	"1"	"03704"	"00085"	"2008-03-10 09:57:42"	"00085"	"2013-04-24 10:47:46"	"SEQ;SSCA"	"DNA"	""	""
"0000322451"	"00321262"	"1"	"00085"	"00085"	"2008-03-10 10:02:06"	"00085"	"2013-05-08 14:00:59"	"SEQ;SSCA"	"RNA"	""	""
"0000322452"	"00321263"	"1"	"03704"	"00085"	"2008-03-10 10:05:01"	"00085"	"2013-05-08 14:01:41"	"DGGE;SEQ"	"DNA"	""	""
"0000322453"	"00321264"	"1"	"00085"	"00085"	"2008-03-10 10:08:31"	"00085"	"2012-07-09 15:31:32"	"SEQ"	"DNA"	""	""
"0000322454"	"00321265"	"1"	"03855"	"03855"	"2009-12-29 13:52:03"	""	""	"SEQ"	"DNA"	""	""
"0000322455"	"00321266"	"1"	"03870"	"03870"	"2010-09-27 16:34:08"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322456"	"00321267"	"1"	"03862"	"03862"	"2011-02-03 08:01:16"	"00085"	"2012-08-01 11:44:52"	"SEQ"	"DNA"	""	""
"0000322457"	"00321268"	"1"	"03861"	"03861"	"2011-05-03 10:37:18"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322458"	"00321269"	"1"	"03861"	"03861"	"2013-05-21 12:32:37"	"00085"	"2013-05-22 13:14:14"	"SEQ"	"DNA"	""	""
"0000322459"	"00321270"	"1"	"03861"	"03861"	"2013-05-21 12:35:50"	""	""	"SEQ"	"DNA"	""	""
"0000322460"	"00321271"	"1"	"03861"	"03861"	"2013-05-21 12:37:41"	""	""	"SEQ"	"DNA"	""	""
"0000322461"	"00321272"	"1"	"03872"	"03872"	"2014-07-03 17:11:53"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322462"	"00321273"	"1"	"03879"	"03879"	"2014-12-08 08:28:38"	"00085"	"2015-08-10 09:36:04"	"PCR;SEQ"	"DNA"	""	""
"0000322463"	"00321274"	"1"	"00085"	"00085"	"2016-06-14 13:41:17"	"00085"	"2016-06-14 13:43:33"	"PCR;SEQ"	"DNA"	""	""
"0000322464"	"00321275"	"1"	"03870"	"03870"	"2017-03-10 09:09:24"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322465"	"00321276"	"1"	"03870"	"03870"	"2017-03-10 09:10:28"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322466"	"00321277"	"1"	"03894"	"03894"	"2018-09-27 11:17:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322467"	"00321278"	"1"	"03894"	"03894"	"2018-09-27 11:57:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322469"	"00321280"	"1"	"03897"	"03897"	"2020-04-11 10:45:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322470"	"00321281"	"1"	"00085"	"00085"	"2008-03-10 10:12:44"	"00085"	"2013-04-24 10:32:39"	"SEQ"	"DNA"	""	""
"0000322471"	"00321282"	"1"	"03885"	"03885"	"2016-10-04 15:01:57"	"00085"	"2017-03-13 16:17:51"	"SEQ-NG"	"DNA"	""	""
"0000322472"	"00321283"	"1"	"03870"	"03870"	"2017-03-10 09:11:55"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322473"	"00321284"	"1"	"03870"	"03870"	"2017-03-10 09:13:03"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322474"	"00321285"	"1"	"00085"	"00085"	"2014-10-08 13:06:21"	"00085"	"2015-02-09 08:44:11"	"SEQ-NG"	"DNA"	""	""
"0000322475"	"00321286"	"1"	"03855"	"03855"	"2009-12-29 13:54:04"	""	""	"SEQ"	"DNA"	""	""
"0000322476"	"00321287"	"1"	"00085"	"00085"	"2008-03-10 09:45:09"	"00085"	"2013-05-08 14:03:56"	"SEQ"	"RNA"	""	""
"0000322477"	"00321288"	"1"	"00085"	"00085"	"2016-08-02 13:23:59"	"00085"	"2016-08-12 16:28:27"	"SEQ-NG"	"DNA"	""	""
"0000322478"	"00321289"	"1"	"03704"	"00085"	"2008-03-10 09:47:11"	"00085"	"2013-05-08 14:02:25"	"?"	"?"	""	""
"0000322479"	"00321290"	"1"	"03879"	"03879"	"2014-12-05 15:03:12"	"03879"	"2015-08-07 11:43:39"	"PCR;SEQ"	"DNA"	""	""
"0000322480"	"00321291"	"1"	"03879"	"03879"	"2014-12-08 16:28:01"	"00085"	"2015-08-10 10:10:34"	"PCR;SEQ"	"DNA"	""	""
"0000322481"	"00321292"	"1"	"03704"	"00085"	"2008-03-10 10:18:37"	"00085"	"2013-05-08 14:05:43"	"?"	"?"	""	""
"0000322482"	"00321293"	"1"	"00085"	"00085"	"2008-03-10 10:21:51"	"00085"	"2013-03-18 16:08:45"	"SEQ;SSCA"	"RNA"	""	""
"0000322483"	"00321294"	"1"	"03704"	"00085"	"2008-03-10 10:23:47"	"00085"	"2013-05-08 14:06:23"	"?"	"?"	""	""
"0000322484"	"00321295"	"1"	"00085"	"00085"	"2008-03-10 10:24:49"	"00085"	"2013-05-08 14:07:38"	"?"	"?"	""	""
"0000322485"	"00321296"	"1"	"03702"	"03702"	"2008-09-03 21:34:25"	"00085"	"2014-02-11 16:51:05"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000322486"	"00321297"	"1"	"03704"	"00085"	"2009-02-13 13:18:28"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000322487"	"00321298"	"1"	"00085"	"00085"	"2009-07-30 08:44:59"	"00085"	"2013-05-08 14:08:48"	"PCR;SEQ"	"DNA"	""	""
"0000322488"	"00321299"	"1"	"03855"	"03855"	"2009-12-29 13:56:46"	""	""	"SEQ"	"DNA"	""	""
"0000322489"	"00321300"	"1"	"01819"	"01819"	"2011-09-21 13:19:04"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322490"	"00321301"	"1"	"00085"	"00085"	"2014-02-05 09:37:40"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322491"	"00321302"	"1"	"00085"	"00085"	"2019-08-15 15:30:10"	"00085"	"2019-08-28 13:59:10"	"SEQ-NG"	"DNA"	""	""
"0000322492"	"00321303"	"1"	"00085"	"00085"	"2008-03-10 10:33:06"	"00085"	"2013-05-08 14:09:52"	"?"	"?"	""	""
"0000322494"	"00321305"	"1"	"03865"	"03865"	"2012-06-23 15:26:38"	"00085"	"2013-08-23 13:41:09"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322495"	"00321306"	"1"	"00085"	"00085"	"2017-09-29 14:21:42"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000322496"	"00321307"	"1"	"00085"	"00085"	"2008-03-10 10:36:55"	"00085"	"2013-05-08 14:10:29"	"?"	"?"	""	""
"0000322497"	"00321308"	"1"	"00085"	"00085"	"2008-07-30 11:16:04"	"00085"	"2013-05-08 14:11:13"	"?"	"?"	""	""
"0000322498"	"00321309"	"1"	"00085"	"00085"	"2008-07-30 11:42:26"	"00085"	"2012-05-30 13:01:27"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322499"	"00321310"	"1"	"00085"	"00085"	"2009-04-21 11:09:08"	"00085"	"2013-03-18 15:53:11"	"PCR;SEQ"	"DNA"	""	""
"0000322500"	"00321311"	"1"	"03855"	"03855"	"2009-12-29 13:55:18"	""	""	"SEQ"	"DNA"	""	""
"0000322501"	"00321312"	"1"	"03870"	"03870"	"2010-07-30 10:47:32"	"00085"	"2013-04-22 11:01:49"	"DHPLC;SEQ"	"DNA"	""	""
"0000322502"	"00321313"	"1"	"03879"	"03879"	"2016-04-18 18:30:56"	"00085"	"2016-04-19 09:00:44"	"PCR;SEQ"	"DNA"	""	""
"0000322503"	"00321314"	"1"	"01819"	"01819"	"2016-11-28 13:24:52"	"01819"	"2016-11-28 13:27:25"	"PCR;SEQ"	"DNA"	""	""
"0000322504"	"00321315"	"1"	"03870"	"03870"	"2017-03-13 14:25:59"	"00085"	"2017-03-14 09:21:13"	"DHPLC;SEQ"	"DNA"	""	""
"0000322505"	"00321316"	"1"	"03870"	"03870"	"2017-03-13 14:27:13"	""	""	"SEQ"	"DNA"	""	""
"0000322506"	"00321317"	"1"	"03870"	"03870"	"2017-03-13 14:29:24"	""	""	"SEQ"	"DNA"	""	""
"0000322507"	"00321318"	"1"	"03870"	"03870"	"2017-03-13 14:30:26"	""	""	"SEQ"	"DNA"	""	""
"0000322508"	"00321319"	"1"	"03870"	"03870"	"2017-03-13 14:31:12"	""	""	"SEQ"	"DNA"	""	""
"0000322510"	"00321321"	"1"	"03894"	"03894"	"2018-09-25 12:52:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322511"	"00321322"	"1"	"03894"	"03894"	"2018-09-27 13:55:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322514"	"00321325"	"1"	"00085"	"00085"	"2008-07-30 11:13:35"	"00085"	"2013-05-08 14:12:28"	"?"	"?"	""	""
"0000322515"	"00321326"	"1"	"00085"	"00085"	"2008-07-30 11:14:29"	"00085"	"2013-04-24 09:36:19"	"?"	"?"	""	""
"0000322516"	"00321327"	"1"	"00085"	"00085"	"2008-07-30 11:51:23"	"00085"	"2013-05-08 14:13:26"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322517"	"00321328"	"1"	"00085"	"00085"	"2017-03-15 15:57:44"	""	""	"SEQ-NG"	"DNA"	""	""
"0000322518"	"00321329"	"1"	"00085"	"00085"	"2018-01-19 08:40:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322519"	"00321330"	"1"	"03894"	"03894"	"2018-09-27 11:53:43"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000322520"	"00321331"	"1"	"03870"	"03870"	"2017-03-13 14:37:03"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322521"	"00321332"	"1"	"03894"	"03894"	"2018-09-26 13:29:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322522"	"00321333"	"1"	"00085"	"00085"	"2008-03-10 10:42:06"	"00085"	"2013-05-08 14:14:31"	"SEQ"	"RNA"	""	""
"0000322523"	"00321334"	"1"	"01819"	"01819"	"2011-09-21 13:21:44"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322524"	"00321335"	"1"	"03870"	"03870"	"2017-03-13 14:38:34"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322525"	"00321336"	"1"	"03704"	"00085"	"2011-02-17 15:34:18"	"00085"	"2011-03-07 15:42:08"	"PCR;SEQ"	"DNA"	""	""
"0000322526"	"00321337"	"1"	"03894"	"03894"	"2018-09-27 11:25:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322527"	"00321338"	"1"	"03865"	"03865"	"2012-06-23 15:29:36"	"00085"	"2013-08-23 13:41:28"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322528"	"00321339"	"1"	"03870"	"03870"	"2017-03-13 14:40:06"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322529"	"00321340"	"1"	"03870"	"03870"	"2017-03-13 14:40:55"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322530"	"00321341"	"1"	"03897"	"03897"	"2020-04-11 16:20:33"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322531"	"00321342"	"1"	"00085"	"00085"	"2018-01-19 08:54:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322532"	"00321343"	"1"	"03870"	"03870"	"2017-03-13 14:42:23"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322533"	"00321344"	"1"	"03704"	"00085"	"2008-07-30 12:49:36"	"00085"	"2013-05-08 14:15:25"	"?"	"?"	""	""
"0000322534"	"00321345"	"1"	"00085"	"00085"	"2014-11-05 08:40:10"	""	""	"SEQ"	"DNA"	""	""
"0000322535"	"00321346"	"1"	"00085"	"00085"	"2008-07-30 11:55:12"	"00085"	"2013-04-24 10:51:22"	"CSGE;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000322536"	"00321347"	"1"	"03870"	"03870"	"2012-02-10 09:51:11"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322537"	"00321348"	"1"	"00085"	"00085"	"2008-07-30 12:33:56"	"00085"	"2013-05-08 14:20:29"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322538"	"00321349"	"1"	"00085"	"00085"	"2008-07-30 12:47:26"	"00085"	"2014-02-11 16:53:03"	"?"	"?"	""	""
"0000322539"	"00321350"	"1"	"01819"	"01819"	"2011-09-21 14:27:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322540"	"00321351"	"1"	"03879"	"03879"	"2014-12-05 09:36:18"	"00085"	"2015-08-10 09:31:16"	"PCR;SEQ"	"DNA"	""	""
"0000322541"	"00321352"	"1"	"00085"	"00085"	"2015-12-09 16:16:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322542"	"00321353"	"1"	"03894"	"03894"	"2018-09-27 10:19:21"	"00006"	"2021-10-30 12:06:35"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"custom gene panel"
"0000322543"	"00321354"	"1"	"03894"	"03894"	"2018-09-27 13:06:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322544"	"00321355"	"1"	"00085"	"00085"	"2012-05-30 13:14:57"	""	""	"?"	"?"	""	""
"0000322545"	"00321356"	"1"	"00085"	"00085"	"2008-07-30 13:06:35"	"00085"	"2012-05-30 13:04:03"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322546"	"00321357"	"1"	"03897"	"00085"	"2019-08-29 13:56:55"	"00085"	"2019-08-29 14:17:04"	"SEQ"	"DNA"	""	""
"0000322547"	"00321358"	"1"	"03704"	"00085"	"2008-03-10 10:49:04"	"00085"	"2013-05-08 14:26:50"	"?"	"?"	""	""
"0000322548"	"00321359"	"1"	"03704"	"00085"	"2009-02-13 13:24:32"	"00085"	"2011-08-25 14:44:23"	"PCR;SEQ"	"DNA"	""	""
"0000322549"	"00321360"	"1"	"03865"	"03865"	"2012-06-23 15:35:02"	"00085"	"2013-08-23 13:41:48"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322550"	"00321361"	"1"	"03879"	"03879"	"2014-12-05 13:54:00"	"00085"	"2015-08-10 10:10:02"	"PCR;SEQ"	"DNA"	""	""
"0000322551"	"00321362"	"1"	"03879"	"03879"	"2014-12-08 13:19:25"	"00085"	"2015-08-10 10:09:24"	"PCR;SEQ"	"DNA"	""	""
"0000322552"	"00321363"	"1"	"00085"	"00085"	"2008-05-09 15:50:00"	"00085"	"2013-04-04 13:50:02"	"PCR;SEQ"	"DNA"	""	""
"0000322553"	"00321364"	"1"	"00085"	"00085"	"2012-08-08 10:35:54"	"00085"	"2012-08-08 10:37:09"	"PCR;SEQ"	"DNA"	""	""
"0000322554"	"00321365"	"1"	"00085"	"00085"	"2015-12-09 16:19:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322555"	"00321366"	"1"	"03894"	"03894"	"2018-09-27 13:36:15"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322556"	"00321367"	"1"	"03870"	"03870"	"2017-03-13 14:43:52"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322557"	"00321368"	"1"	"00085"	"00085"	"2008-03-10 10:52:14"	"00085"	"2013-05-08 14:34:14"	"?"	"?"	""	""
"0000322558"	"00321369"	"1"	"00085"	"00085"	"2008-03-10 10:53:47"	"00085"	"2013-05-08 14:36:23"	"?"	"?"	""	""
"0000322559"	"00321370"	"1"	"03894"	"03894"	"2018-09-27 11:48:54"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322560"	"00321371"	"1"	"00085"	"00085"	"2008-03-10 10:55:23"	"00085"	"2013-05-08 14:37:37"	"?"	"?"	""	""
"0000322561"	"00321372"	"1"	"00085"	"00085"	"2008-03-10 10:56:32"	"00085"	"2013-05-08 14:38:17"	"?"	"?"	""	""
"0000322562"	"00321373"	"1"	"03702"	"03702"	"2010-08-11 12:50:06"	"00085"	"2012-07-31 16:44:34"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000322563"	"00321374"	"1"	"00085"	"00085"	"2009-04-21 13:12:44"	"00085"	"2012-07-09 16:00:27"	"PCR;SEQ"	"DNA"	""	""
"0000322564"	"00321375"	"1"	"03855"	"03855"	"2009-12-29 14:02:32"	""	""	"SEQ"	"DNA"	""	""
"0000322566"	"00321377"	"1"	"00085"	"00085"	"2014-08-05 14:15:04"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000322567"	"00321378"	"1"	"03878"	"03878"	"2014-10-22 14:51:10"	""	""	"SEQ-NG"	"DNA"	""	""
"0000322568"	"00321379"	"1"	"03894"	"03894"	"2018-09-27 10:23:56"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000322569"	"00321380"	"1"	"00085"	"00085"	"2011-06-24 09:32:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322570"	"00321381"	"1"	"03704"	"00085"	"2009-02-13 14:18:06"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000322571"	"00321382"	"1"	"00085"	"00085"	"2008-03-10 11:37:47"	"00085"	"2013-04-24 10:35:24"	"PCR;SEQ"	"DNA"	""	""
"0000322572"	"00321383"	"1"	"00085"	"00085"	"2008-03-11 09:38:51"	"00085"	"2013-04-24 10:53:30"	"PCR;SEQ"	"DNA"	""	""
"0000322573"	"00321384"	"1"	"00085"	"00085"	"2008-03-11 09:39:57"	"00085"	"2014-04-07 09:00:02"	"PCR;SEQ"	"DNA"	""	""
"0000322574"	"00321385"	"1"	"03853"	"03853"	"2009-02-06 13:14:49"	"00085"	"2014-02-18 13:56:30"	"SEQ"	"DNA"	""	""
"0000322575"	"00321386"	"1"	"03853"	"03853"	"2009-04-03 13:50:38"	"00085"	"2014-02-18 13:57:14"	"SEQ"	"DNA"	""	""
"0000322576"	"00321387"	"1"	"03853"	"03853"	"2009-05-20 14:36:00"	"00085"	"2014-02-18 13:57:47"	"SEQ"	"DNA"	""	""
"0000322577"	"00321388"	"1"	"03855"	"03855"	"2009-12-29 14:03:41"	""	""	"SEQ"	"DNA"	""	""
"0000322578"	"00321389"	"1"	"03870"	"03870"	"2010-09-02 13:14:50"	"00085"	"2013-04-22 11:02:39"	"DHPLC;SEQ"	"DNA"	""	""
"0000322579"	"00321390"	"1"	"03870"	"03870"	"2012-02-16 14:59:22"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322580"	"00321391"	"1"	"03870"	"03870"	"2017-03-14 09:09:34"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322581"	"00321392"	"1"	"03870"	"03870"	"2017-03-14 09:10:23"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322582"	"00321393"	"1"	"03870"	"03870"	"2017-03-14 09:12:20"	""	""	"SEQ"	"DNA"	""	""
"0000322583"	"00321394"	"1"	"00085"	"00085"	"2008-03-10 11:05:30"	"00085"	"2013-05-08 14:39:24"	"?"	"?"	""	""
"0000322584"	"00321395"	"1"	"00085"	"00085"	"2008-03-10 11:06:36"	"00085"	"2013-05-08 14:40:08"	"?"	"?"	""	""
"0000322585"	"00321396"	"1"	"00085"	"00085"	"2008-03-10 11:07:54"	"00085"	"2013-05-08 14:40:50"	"?"	"?"	""	""
"0000322586"	"00321397"	"1"	"00085"	"00085"	"2008-03-10 11:08:57"	"00085"	"2013-05-08 14:41:31"	"?"	"?"	""	""
"0000322587"	"00321398"	"1"	"00085"	"00085"	"2008-03-10 11:10:15"	"00085"	"2013-05-08 14:42:11"	"?"	"?"	""	""
"0000322588"	"00321399"	"1"	"00085"	"00085"	"2011-04-01 12:56:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322589"	"00321400"	"1"	"03704"	"00085"	"2008-03-10 11:01:31"	"00085"	"2013-05-08 14:43:25"	"?"	"?"	""	""
"0000322590"	"00321401"	"1"	"03704"	"00085"	"2008-03-10 11:02:43"	"00085"	"2013-05-08 14:44:49"	"PCR;SEQ"	"DNA"	""	""
"0000322591"	"00321402"	"1"	"03855"	"03855"	"2009-12-29 14:05:13"	""	""	"SEQ"	"DNA"	""	""
"0000322592"	"00321403"	"1"	"03879"	"03879"	"2014-12-05 08:23:55"	"00085"	"2015-08-10 10:08:43"	"PCR;SEQ"	"DNA"	""	""
"0000322593"	"00321404"	"1"	"03897"	"03897"	"2020-04-11 10:49:34"	"03897"	"2020-04-11 16:53:07"	"PCR;SEQ"	"DNA"	""	""
"0000322594"	"00321405"	"1"	"03704"	"00085"	"2008-03-10 11:41:43"	"00085"	"2013-05-10 16:46:29"	"?"	"?"	""	""
"0000322595"	"00321406"	"1"	"00085"	"00085"	"2008-03-10 11:43:06"	"00085"	"2013-05-10 16:47:50"	"?"	"?"	""	""
"0000322596"	"00321407"	"1"	"00085"	"00085"	"2008-03-10 11:45:15"	"00085"	"2013-05-10 16:48:44"	"?"	"?"	""	""
"0000322597"	"00321408"	"1"	"03894"	"03894"	"2018-09-27 10:33:32"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000322598"	"00321409"	"1"	"00085"	"00085"	"2008-05-09 16:04:09"	"00085"	"2013-04-04 13:40:28"	"RT-PCR;SEQ;CSGE"	"RNA"	""	""
"0000322599"	"00321410"	"1"	"03870"	"03870"	"2017-03-14 09:13:46"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322600"	"00321411"	"1"	"03894"	"03894"	"2018-09-26 12:28:02"	"03894"	"2018-09-28 08:12:39"	"PCR;SEQ"	"DNA"	""	""
"0000322601"	"00321412"	"1"	"00085"	"00085"	"2008-07-30 13:16:31"	"00085"	"2013-04-24 10:19:03"	"PCR;SEQ"	"DNA"	""	""
"0000322602"	"00321413"	"1"	"03870"	"03870"	"2010-06-18 15:07:16"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322603"	"00321414"	"1"	"03870"	"03870"	"2017-03-14 09:22:14"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322604"	"00321415"	"1"	"03870"	"03870"	"2009-06-03 11:06:32"	"00085"	"2013-04-22 11:03:33"	"DHPLC;SEQ"	"DNA"	""	""
"0000322605"	"00321416"	"1"	"03872"	"03872"	"2014-11-02 13:00:46"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000322606"	"00321417"	"1"	"03870"	"03870"	"2017-03-15 08:08:45"	""	""	"SEQ"	"DNA"	""	""
"0000322607"	"00321418"	"1"	"00085"	"00085"	"2019-08-12 13:46:58"	""	""	"SEQ"	"?"	""	""
"0000322608"	"00321419"	"1"	"00085"	"00085"	"2008-03-10 11:49:04"	"00085"	"2013-05-10 16:50:34"	"?"	"?"	""	""
"0000322609"	"00321420"	"1"	"03704"	"00085"	"2008-05-09 16:16:47"	"00085"	"2013-05-10 16:52:01"	"DGGE;PCR;SEQ;SSCA"	"DNA"	""	""
"0000322610"	"00321421"	"1"	"03870"	"03870"	"2017-03-15 08:10:21"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322614"	"00321425"	"1"	"03704"	"00085"	"2008-03-10 11:50:40"	"00085"	"2014-02-11 16:55:38"	"?"	"?"	""	""
"0000322615"	"00321426"	"1"	"00085"	"00085"	"2008-07-30 13:27:14"	"00085"	"2013-05-10 16:54:03"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322616"	"00321427"	"1"	"00085"	"00085"	"2008-07-30 13:31:47"	"00085"	"2014-02-11 16:56:47"	"?"	"?"	""	""
"0000322617"	"00321428"	"1"	"03704"	"00085"	"2008-06-17 14:31:26"	"00085"	"2012-07-31 15:14:13"	"SEQ"	"DNA"	""	""
"0000322618"	"00321429"	"1"	"00085"	"00085"	"2008-07-30 13:38:16"	"00085"	"2012-05-30 13:04:28"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322620"	"00321431"	"1"	"03704"	"00085"	"2009-02-13 14:21:35"	"00085"	"2013-04-04 13:36:00"	"PCR;SEQ"	"DNA"	""	""
"0000322621"	"00321432"	"1"	"00085"	"00085"	"2009-11-30 13:11:45"	"00085"	"2010-03-31 13:25:46"	"?"	"?"	""	""
"0000322622"	"00321433"	"1"	"03870"	"03870"	"2017-03-15 08:12:12"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322623"	"00321434"	"1"	"03870"	"03870"	"2017-03-15 08:15:18"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322624"	"00321435"	"1"	"03870"	"03870"	"2017-03-15 08:17:17"	""	""	"SEQ"	"DNA"	""	""
"0000322625"	"00321436"	"1"	"03870"	"03870"	"2017-03-15 08:18:06"	""	""	"SEQ"	"DNA"	""	""
"0000322626"	"00321437"	"1"	"00085"	"00085"	"2008-03-10 12:56:46"	"00085"	"2014-02-11 16:57:39"	"?"	"?"	""	""
"0000322627"	"00321438"	"1"	"00085"	"00085"	"2008-03-10 13:00:26"	"00085"	"2013-04-24 10:11:49"	"SEQ;SSCA"	"RNA"	""	""
"0000322628"	"00321439"	"1"	"03855"	"03855"	"2009-12-29 14:06:16"	""	""	"SEQ"	"DNA"	""	""
"0000322629"	"00321440"	"1"	"03855"	"03855"	"2009-12-29 14:08:45"	""	""	"SEQ"	"DNA"	""	""
"0000322630"	"00321441"	"1"	"00085"	"00085"	"2008-03-10 13:04:39"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000322631"	"00321442"	"1"	"00085"	"00085"	"2008-03-10 13:50:26"	"00085"	"2014-02-11 16:58:56"	"SEQ;CMC"	"RNA"	""	""
"0000322632"	"00321443"	"1"	"00085"	"00085"	"2008-03-10 13:56:13"	"00085"	"2014-02-11 17:00:11"	"SEQ;NUC"	"RNA"	""	""
"0000322633"	"00321444"	"1"	"00085"	"00085"	"2008-03-10 14:01:17"	"00085"	"2014-02-11 17:01:09"	"?"	"?"	""	""
"0000322634"	"00321445"	"1"	"03704"	"00085"	"2008-03-10 14:23:06"	"00085"	"2014-02-12 13:17:29"	"?"	"?"	""	""
"0000322635"	"00321446"	"1"	"03704"	"00085"	"2008-03-10 15:20:04"	"00085"	"2014-02-12 13:18:27"	"?"	"?"	""	""
"0000322636"	"00321447"	"1"	"03704"	"00085"	"2008-03-10 15:21:02"	"00085"	"2014-02-12 13:19:09"	"?"	"?"	""	""
"0000322637"	"00321448"	"1"	"00085"	"00085"	"2008-03-10 15:22:31"	"00085"	"2014-02-18 13:23:25"	"?"	"?"	""	""
"0000322638"	"00321449"	"1"	"00085"	"00085"	"2008-03-10 15:27:30"	"00085"	"2013-03-18 16:12:56"	"SEQ;SSCA"	"RNA"	""	""
"0000322639"	"00321450"	"1"	"00085"	"00085"	"2008-03-10 15:29:01"	"00085"	"2014-02-18 13:24:32"	"?"	"?"	""	""
"0000322640"	"00321451"	"1"	"03853"	"03853"	"2009-02-06 13:10:48"	"00085"	"2014-02-18 13:58:21"	"SEQ"	"DNA"	""	""
"0000322641"	"00321452"	"1"	"03702"	"03702"	"2010-08-11 12:30:13"	"00085"	"2010-08-13 13:06:16"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000322642"	"00321453"	"1"	"03872"	"03872"	"2014-11-02 12:17:07"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000322643"	"00321454"	"1"	"03894"	"03894"	"2018-09-25 14:39:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322644"	"00321455"	"1"	"00085"	"00085"	"2019-08-15 16:20:44"	"00085"	"2019-08-28 16:02:43"	"SEQ-NG"	"DNA"	""	""
"0000322646"	"00321457"	"1"	"03897"	"03897"	"2020-04-11 16:24:58"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322647"	"00321458"	"1"	"00085"	"00085"	"2008-03-10 13:10:20"	"00085"	"2013-08-21 10:28:07"	"?"	"?"	""	""
"0000322648"	"00321459"	"1"	"03704"	"00085"	"2008-03-10 13:12:32"	"00085"	"2014-02-12 13:20:48"	"?"	"?"	""	""
"0000322649"	"00321460"	"1"	"03704"	"00085"	"2008-03-10 13:15:16"	"00085"	"2014-02-12 13:22:25"	"?"	"?"	""	""
"0000322650"	"00321461"	"1"	"03704"	"00085"	"2008-03-10 15:38:28"	"00085"	"2014-02-12 13:23:06"	"?"	"?"	""	""
"0000322651"	"00321462"	"1"	"00085"	"00085"	"2008-03-10 15:47:04"	"00085"	"2013-08-21 10:33:29"	"SEQ;SSCA"	"RNA"	""	""
"0000322652"	"00321463"	"1"	"03865"	"03865"	"2012-06-23 15:37:49"	"00085"	"2013-08-23 13:42:12"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322653"	"00321464"	"1"	"03879"	"03879"	"2014-12-09 09:50:51"	"00085"	"2015-08-10 09:28:15"	"PCR;SEQ"	"DNA"	""	""
"0000322654"	"00321465"	"1"	"03855"	"03855"	"2009-12-29 14:10:12"	""	""	"SEQ"	"DNA"	""	""
"0000322655"	"00321466"	"1"	"03885"	"03885"	"2016-10-04 15:04:57"	""	""	"SEQ"	"DNA"	""	""
"0000322656"	"00321467"	"1"	"03879"	"03879"	"2014-12-04 10:50:22"	"00085"	"2015-08-10 10:02:14"	"PCR;SEQ"	"DNA"	""	""
"0000322657"	"00321468"	"1"	"03879"	"03879"	"2014-12-08 16:29:42"	"00085"	"2015-08-10 10:00:43"	"PCR;SEQ"	"DNA"	""	""
"0000322658"	"00321469"	"1"	"00085"	"00085"	"2018-08-03 09:01:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322659"	"00321470"	"1"	"00085"	"00085"	"2008-07-30 15:49:02"	"00085"	"2014-02-12 13:32:54"	"?"	"?"	""	""
"0000322660"	"00321471"	"1"	"01819"	"01819"	"2011-09-21 14:28:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322661"	"00321472"	"1"	"00085"	"00085"	"2018-08-03 08:59:15"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322662"	"00321473"	"1"	"03897"	"03897"	"2020-04-11 11:37:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322663"	"00321474"	"1"	"00085"	"00085"	"2008-07-30 15:52:16"	"00085"	"2013-04-24 09:30:55"	"?"	"?"	""	""
"0000322664"	"00321475"	"1"	"00085"	"00085"	"2015-12-09 16:27:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322665"	"00321476"	"1"	"00085"	"00085"	"2008-07-30 16:07:19"	"00085"	"2013-04-24 09:28:12"	"?"	"?"	""	""
"0000322666"	"00321477"	"1"	"03882"	"00085"	"2016-06-03 08:44:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322667"	"00321478"	"1"	"03853"	"03853"	"2008-11-05 18:03:47"	"00085"	"2008-11-18 16:38:59"	"SEQ"	"DNA"	""	""
"0000322668"	"00321479"	"1"	"00475"	"00475"	"2010-01-14 16:54:42"	""	""	"SEQ"	"DNA"	""	""
"0000322669"	"00321480"	"1"	"00085"	"00085"	"2019-08-15 16:07:43"	"00085"	"2019-08-28 15:58:13"	"SEQ-NG"	"DNA"	""	""
"0000322670"	"00321481"	"1"	"00085"	"00085"	"2019-08-12 16:30:11"	"00085"	"2019-08-22 14:51:41"	"SEQ-NG"	"DNA"	""	""
"0000322671"	"00321482"	"1"	"03704"	"00085"	"2009-02-13 14:23:57"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000322672"	"00321483"	"1"	"03704"	"00085"	"2008-03-10 15:50:23"	"00085"	"2014-02-12 13:23:55"	"PCR;SEQ"	"DNA"	""	""
"0000322673"	"00321484"	"1"	"00085"	"00085"	"2008-03-10 16:28:20"	"00085"	"2013-04-24 10:35:24"	"SEQ"	"DNA"	""	""
"0000322674"	"00321485"	"1"	"00085"	"00085"	"2015-12-09 16:24:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322675"	"00321486"	"1"	"03870"	"03870"	"2017-03-15 10:20:34"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322676"	"00321487"	"1"	"03870"	"03870"	"2017-03-15 10:21:29"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322677"	"00321488"	"1"	"00085"	"00085"	"2008-05-14 15:54:22"	"00085"	"2012-05-30 13:04:56"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322678"	"00321489"	"1"	"00085"	"00085"	"2008-05-14 16:35:10"	"00085"	"2013-08-21 13:10:12"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322679"	"00321490"	"1"	"03870"	"03870"	"2017-03-15 08:22:52"	""	""	"SEQ"	"DNA"	""	""
"0000322680"	"00321491"	"1"	"00085"	"00085"	"2008-05-14 16:03:24"	"00085"	"2012-05-30 13:06:19"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322681"	"00321492"	"1"	"03855"	"03855"	"2009-12-29 14:11:26"	""	""	"SEQ"	"DNA"	""	""
"0000322682"	"00321493"	"1"	"00085"	"00085"	"2008-07-31 09:16:43"	"00085"	"2012-08-01 15:24:39"	"PCR;SEQ"	"DNA"	""	""
"0000322683"	"00321494"	"1"	"03870"	"03870"	"2011-04-28 09:58:30"	"00085"	"2013-04-22 11:04:25"	"DHPLC;SEQ"	"DNA"	""	""
"0000322684"	"00321495"	"1"	"03897"	"00085"	"2020-03-26 09:37:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322685"	"00321496"	"1"	"00085"	"00085"	"2008-03-10 16:06:07"	"00085"	"2013-03-18 16:14:35"	"SEQ;SSCA"	"RNA"	""	""
"0000322686"	"00321497"	"1"	"03704"	"00085"	"2008-03-10 16:09:46"	"00085"	"2014-02-12 13:34:46"	"?"	"?"	""	""
"0000322687"	"00321498"	"1"	"03704"	"00085"	"2008-03-10 16:10:52"	"00085"	"2014-02-12 13:35:24"	"?"	"?"	""	""
"0000322688"	"00321499"	"1"	"00085"	"00085"	"2008-03-10 16:12:01"	"00085"	"2014-02-12 13:36:25"	"?"	"?"	""	""
"0000322689"	"00321500"	"1"	"00085"	"00085"	"2008-03-10 16:13:20"	"00085"	"2014-02-12 13:37:13"	"?"	"?"	""	""
"0000322690"	"00321501"	"1"	"00085"	"00085"	"2008-03-10 16:14:23"	"00085"	"2014-02-12 13:37:49"	"?"	"?"	""	""
"0000322691"	"00321502"	"1"	"00085"	"00085"	"2008-03-10 16:15:20"	"00085"	"2014-02-12 13:39:45"	"?"	"?"	""	""
"0000322692"	"00321503"	"1"	"00085"	"00085"	"2008-03-10 16:16:20"	"00085"	"2014-02-12 13:38:59"	"?"	"?"	""	""
"0000322693"	"00321504"	"1"	"00085"	"00085"	"2008-03-10 16:32:11"	"00085"	"2013-04-24 10:32:39"	"SEQ"	"DNA"	""	""
"0000322694"	"00321505"	"1"	"00085"	"00085"	"2009-09-16 12:00:20"	"00085"	"2012-08-24 12:08:37"	"PCR;SEQ"	"DNA"	""	""
"0000322695"	"00321506"	"1"	"03870"	"03870"	"2010-03-05 16:29:53"	"00085"	"2013-04-22 11:05:28"	"DHPLC;SEQ"	"DNA"	""	""
"0000322696"	"00321507"	"1"	"01819"	"01819"	"2011-09-21 13:23:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322697"	"00321508"	"1"	"03867"	"03867"	"2013-01-16 08:14:48"	"03701"	"2020-11-18 12:24:14"	"PCR;SEQ"	"DNA;protein"	""	""
"0000322698"	"00321509"	"1"	"00085"	"00085"	"2014-04-02 09:40:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322699"	"00321510"	"1"	"03879"	"03879"	"2014-12-05 13:47:59"	"00085"	"2015-08-10 10:00:07"	"PCR;SEQ"	"DNA"	""	""
"0000322700"	"00321511"	"1"	"03879"	"03879"	"2014-12-05 13:49:11"	"00085"	"2015-08-10 09:52:04"	"PCR;SEQ"	"DNA"	""	""
"0000322701"	"00321512"	"1"	"03879"	"03879"	"2014-12-05 13:50:05"	"00085"	"2015-08-10 09:51:17"	"PCR;SEQ"	"DNA"	""	""
"0000322702"	"00321513"	"1"	"00085"	"00085"	"2015-10-07 15:20:33"	""	""	"SEQ-NG"	"DNA"	""	""
"0000322703"	"00321514"	"1"	"03870"	"03870"	"2017-03-15 16:48:45"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322704"	"00321515"	"1"	"03894"	"03894"	"2018-09-25 14:17:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322705"	"00321516"	"1"	"03894"	"03894"	"2018-09-26 13:33:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322706"	"00321517"	"1"	"03894"	"03894"	"2018-09-27 11:52:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322707"	"00321518"	"1"	"00085"	"00085"	"2008-03-10 16:00:05"	"00085"	"2014-02-12 13:40:44"	"SEQ;CMC"	"RNA"	""	""
"0000322708"	"00321519"	"1"	"03704"	"00085"	"2008-03-10 16:20:05"	"00085"	"2013-04-24 10:46:01"	"?"	"?"	""	""
"0000322709"	"00321520"	"1"	"03704"	"00085"	"2008-03-10 16:21:11"	"00085"	"2014-02-12 13:45:19"	"?"	"?"	""	""
"0000322710"	"00321521"	"1"	"03704"	"00085"	"2008-03-10 16:22:17"	"00085"	"2014-02-12 13:46:22"	"?"	"?"	""	""
"0000322712"	"00321523"	"1"	"00085"	"00085"	"2008-03-10 16:42:01"	"00085"	"2014-02-12 13:48:11"	"SEQ"	"RNA"	""	""
"0000322713"	"00321524"	"1"	"00085"	"00085"	"2008-03-11 08:45:41"	"00085"	"2014-02-12 13:49:18"	"?"	"?"	""	""
"0000322714"	"00321525"	"1"	"00085"	"00085"	"2008-03-11 08:46:45"	"00085"	"2014-02-12 13:50:20"	"?"	"?"	""	""
"0000322715"	"00321526"	"1"	"03704"	"00085"	"2008-03-11 08:47:41"	"00085"	"2014-02-12 13:47:09"	"?"	"?"	""	""
"0000322716"	"00321527"	"1"	"03855"	"03855"	"2009-12-29 14:15:44"	""	""	"SEQ"	"DNA"	""	""
"0000322717"	"00321528"	"1"	"01819"	"01819"	"2011-09-21 13:24:40"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322718"	"00321529"	"1"	"00085"	"00085"	"2011-11-02 08:50:23"	"00085"	"2011-11-02 08:52:00"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000322719"	"00321530"	"1"	"00085"	"00085"	"2008-03-11 08:51:26"	"00085"	"2014-02-12 13:44:14"	"?"	"?"	""	""
"0000322720"	"00321531"	"1"	"00085"	"00085"	"2008-03-11 08:58:17"	"00085"	"2014-02-12 13:51:31"	"SEQ"	"protein"	""	""
"0000322721"	"00321532"	"1"	"03855"	"03855"	"2009-12-29 14:17:41"	""	""	"SEQ"	"DNA"	""	""
"0000322722"	"00321533"	"1"	"03870"	"03870"	"2009-12-01 17:07:30"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322723"	"00321534"	"1"	"00085"	"00085"	"2008-05-15 10:37:38"	"00085"	"2013-08-21 13:17:01"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322724"	"00321535"	"1"	"03870"	"03870"	"2009-07-08 10:30:32"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322725"	"00321536"	"1"	"03870"	"03870"	"2011-02-07 15:48:36"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322726"	"00321537"	"1"	"03870"	"03870"	"2017-03-15 16:50:37"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322727"	"00321538"	"1"	"00085"	"00085"	"2008-03-11 09:30:19"	"00085"	"2014-02-12 13:53:30"	"DHPLC;SEQ"	"RNA"	""	""
"0000322728"	"00321539"	"1"	"00475"	"00475"	"2010-01-14 17:00:43"	""	""	"SEQ"	"DNA"	""	""
"0000322729"	"00321540"	"1"	"03702"	"03702"	"2010-08-11 12:33:16"	"00085"	"2010-08-13 13:07:04"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000322730"	"00321541"	"1"	"00085"	"00085"	"2008-03-11 09:34:50"	"00085"	"2013-04-24 10:35:24"	"SEQ"	"DNA"	""	""
"0000322731"	"00321542"	"1"	"00085"	"00085"	"2008-03-11 09:01:48"	"00085"	"2014-02-12 13:54:57"	"?"	"?"	""	""
"0000322732"	"00321543"	"1"	"00085"	"00085"	"2008-03-11 09:04:27"	"00085"	"2014-02-12 13:56:07"	"?"	"?"	""	""
"0000322733"	"00321544"	"1"	"03885"	"03885"	"2016-10-04 15:17:48"	""	""	"SEQ"	"DNA"	""	""
"0000322734"	"00321545"	"1"	"03882"	"00085"	"2016-06-03 08:37:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322735"	"00321546"	"1"	"03897"	"00085"	"2019-08-29 13:50:32"	""	""	"SEQ"	"DNA"	""	""
"0000322736"	"00321547"	"1"	"00085"	"00085"	"2008-07-31 09:12:41"	"00085"	"2014-02-12 13:57:20"	"?"	"?"	""	""
"0000322737"	"00321548"	"1"	"00085"	"00085"	"2008-07-31 09:20:48"	"00085"	"2014-02-12 13:58:00"	"?"	"?"	""	""
"0000322738"	"00321549"	"1"	"00085"	"00085"	"2008-07-31 09:23:12"	"00085"	"2012-07-30 13:51:24"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322739"	"00321550"	"1"	"00085"	"00085"	"2011-06-24 09:34:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322740"	"00321551"	"1"	"03894"	"03894"	"2018-09-27 11:21:49"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322741"	"00321552"	"1"	"00085"	"00085"	"2008-03-11 09:49:42"	"00085"	"2014-02-12 13:59:19"	"SEQ;CMC"	"RNA"	""	""
"0000322742"	"00321553"	"1"	"00085"	"00085"	"2008-03-11 09:54:04"	"00085"	"2014-02-12 14:00:29"	"SEQ"	"?"	""	""
"0000322743"	"00321554"	"1"	"00085"	"00085"	"2008-03-11 09:57:54"	"00085"	"2014-02-12 14:01:42"	"SEQ;CMC"	"RNA"	""	""
"0000322746"	"00321557"	"1"	"00085"	"00085"	"2008-03-11 09:21:08"	"00085"	"2014-02-12 14:02:50"	"SEQ"	"RNA"	""	""
"0000322747"	"00321558"	"1"	"03704"	"00085"	"2008-03-11 09:22:18"	"00085"	"2014-02-18 13:26:31"	"?"	"?"	""	""
"0000322748"	"00321559"	"1"	"03704"	"00085"	"2008-03-11 10:17:00"	"00085"	"2014-02-18 13:31:28"	"PCR;SEQ"	"DNA"	""	""
"0000322749"	"00321560"	"1"	"03855"	"03855"	"2009-12-29 14:18:47"	""	""	"SEQ"	"DNA"	""	""
"0000322750"	"00321561"	"1"	"03885"	"03885"	"2016-10-04 15:20:12"	""	""	"SEQ"	"DNA"	""	""
"0000322752"	"00321563"	"1"	"03870"	"03870"	"2009-12-01 16:22:57"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322753"	"00321564"	"1"	"03897"	"03897"	"2020-04-11 10:37:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322754"	"00321565"	"1"	"00085"	"00085"	"2008-03-11 10:39:17"	"00085"	"2014-02-18 13:32:57"	"?"	"?"	""	""
"0000322755"	"00321566"	"1"	"03870"	"03870"	"2010-12-13 15:27:59"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322756"	"00321567"	"1"	"03861"	"03861"	"2013-05-21 12:40:37"	""	""	"SEQ"	"DNA"	""	""
"0000322757"	"00321568"	"1"	"03879"	"03879"	"2014-12-05 14:01:23"	"00085"	"2015-08-10 09:50:45"	"PCR;SEQ"	"DNA"	""	""
"0000322758"	"00321569"	"1"	"03879"	"03879"	"2014-12-05 14:04:02"	"00085"	"2015-08-10 09:50:02"	"PCR;SEQ"	"DNA"	""	""
"0000322759"	"00321570"	"1"	"00085"	"00085"	"2016-07-26 11:52:06"	"00085"	"2016-07-26 11:52:18"	"PCR;SEQ"	"DNA"	""	""
"0000322760"	"00321571"	"1"	"03870"	"03870"	"2017-03-15 16:51:38"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322761"	"00321572"	"1"	"03891"	"03891"	"2018-06-14 14:00:37"	"00085"	"2018-06-25 11:30:22"	"SEQ"	"DNA"	""	""
"0000322762"	"00321573"	"1"	"00085"	"00085"	"2009-02-26 11:48:37"	"00085"	"2014-02-18 13:34:28"	"PCR;SEQ"	"DNA"	""	""
"0000322763"	"00321574"	"1"	"03702"	"00085"	"2008-03-11 10:43:38"	"00085"	"2014-02-18 13:35:54"	"PAGE;PCR;RT-PCR;SEQ;?"	"?"	""	""
"0000322764"	"00321575"	"1"	"03704"	"00085"	"2009-02-13 14:27:25"	"00085"	"2014-02-18 13:58:55"	"PCR;SEQ"	"DNA"	""	""
"0000322765"	"00321576"	"1"	"03704"	"00085"	"2009-02-13 14:28:48"	"00085"	"2014-02-18 13:59:30"	"PCR;SEQ"	"DNA"	""	""
"0000322766"	"00321577"	"1"	"00085"	"00085"	"2014-10-30 10:30:57"	""	""	"SEQ"	"DNA"	""	""
"0000322767"	"00321578"	"1"	"00085"	"00085"	"2017-04-24 14:23:31"	"00085"	"2017-04-24 14:24:00"	"SEQ"	"DNA"	""	""
"0000322768"	"00321579"	"1"	"03882"	"00085"	"2016-06-03 08:40:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322769"	"00321580"	"1"	"03870"	"03870"	"2017-03-15 16:53:02"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322770"	"00321581"	"1"	"03871"	"03871"	"2013-09-16 14:23:20"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322771"	"00321582"	"1"	"03871"	"03871"	"2013-09-16 14:25:30"	""	""	"SEQ"	"DNA"	""	""
"0000322772"	"00321583"	"1"	"03871"	"03871"	"2013-09-16 14:27:04"	""	""	"SEQ"	"DNA"	""	""
"0000322773"	"00321584"	"1"	"00085"	"00085"	"2008-05-15 16:20:52"	"00085"	"2013-04-24 16:49:07"	"PCR;SEQ"	"DNA"	""	""
"0000322774"	"00321585"	"1"	"03704"	"00085"	"2009-02-13 14:31:56"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000322775"	"00321586"	"1"	"03897"	"03897"	"2020-03-26 12:07:38"	"00085"	"2020-03-26 13:20:36"	"PCR;SEQ"	"DNA"	""	""
"0000322776"	"00321587"	"1"	"00085"	"00085"	"2009-03-04 13:01:13"	"00085"	"2014-02-18 13:37:18"	"PCR;SEQ"	"DNA"	""	""
"0000322777"	"00321588"	"1"	"00085"	"00085"	"2009-11-30 13:08:46"	"00085"	"2014-04-29 09:01:22"	"?"	"?"	""	""
"0000322778"	"00321589"	"1"	"00085"	"00085"	"2008-07-31 09:26:14"	"00085"	"2014-02-18 13:39:29"	"?"	"?"	""	""
"0000322779"	"00321590"	"1"	"00085"	"00085"	"2008-07-31 09:27:16"	"00085"	"2014-02-18 13:40:22"	"?"	"?"	""	""
"0000322780"	"00321591"	"1"	"00085"	"00085"	"2008-07-31 09:30:22"	"00085"	"2014-02-18 13:41:17"	"?"	"?"	""	""
"0000322781"	"00321592"	"1"	"00085"	"00085"	"2008-07-31 09:31:20"	"00085"	"2014-02-18 13:42:16"	"?"	"?"	""	""
"0000322782"	"00321593"	"1"	"00085"	"00085"	"2008-07-31 09:38:05"	"00085"	"2014-02-18 13:43:11"	"PCR;RT-PCR;SEQ;NUC"	"DNA;RNA"	""	""
"0000322783"	"00321594"	"1"	"00085"	"00085"	"2008-07-31 09:46:35"	"00085"	"2014-02-18 13:44:19"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000322784"	"00321595"	"1"	"00085"	"00085"	"2008-07-31 10:05:31"	"00085"	"2014-02-18 13:45:32"	"PCR;SEQ;NUC"	"DNA;RNA"	""	""
"0000322785"	"00321596"	"1"	"00085"	"00085"	"2008-07-31 10:11:44"	"00085"	"2014-02-18 13:49:19"	"?"	"?"	""	""
"0000322786"	"00321597"	"1"	"03870"	"03870"	"2010-04-19 15:24:59"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322787"	"00321598"	"1"	"03870"	"03870"	"2010-04-19 15:29:39"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322788"	"00321599"	"1"	"03871"	"03871"	"2013-09-16 14:12:09"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322789"	"00321600"	"1"	"03871"	"03871"	"2013-09-16 14:14:27"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322790"	"00321601"	"1"	"03879"	"03879"	"2014-12-08 12:29:10"	"00085"	"2015-08-10 09:48:36"	"PCR;SEQ"	"DNA"	""	""
"0000322791"	"00321602"	"1"	"03870"	"03870"	"2017-03-15 16:54:10"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322792"	"00321603"	"1"	"03870"	"03870"	"2017-03-17 11:36:41"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322793"	"00321604"	"1"	"03870"	"03870"	"2017-03-17 11:37:30"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322794"	"00321605"	"1"	"03870"	"03870"	"2017-03-17 11:38:34"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322795"	"00321606"	"1"	"03894"	"03894"	"2018-09-27 12:26:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322796"	"00321607"	"1"	"03897"	"00085"	"2019-08-28 13:56:01"	""	""	"SEQ"	"DNA"	""	""
"0000322798"	"00321609"	"1"	"00085"	"00085"	"2008-07-31 09:28:54"	"00085"	"2014-02-18 13:53:52"	"?"	"?"	""	""
"0000322799"	"00321610"	"1"	"00085"	"00085"	"2008-07-31 09:48:21"	"00085"	"2014-02-18 14:01:13"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000322800"	"00321611"	"1"	"03870"	"03870"	"2017-03-17 11:40:04"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322801"	"00321612"	"1"	"03704"	"00085"	"2008-07-31 10:17:48"	"00085"	"2013-04-24 10:46:01"	"?"	"?"	""	""
"0000322802"	"00321613"	"1"	"03704"	"00085"	"2008-07-31 10:21:10"	"00085"	"2014-03-18 16:12:20"	"?"	"?"	""	""
"0000322803"	"00321614"	"1"	"03855"	"03855"	"2009-12-29 14:21:11"	""	""	"SEQ"	"DNA"	""	""
"0000322804"	"00321615"	"1"	"03879"	"03879"	"2014-12-03 12:08:05"	"00085"	"2015-08-10 09:27:46"	"PCR;SEQ"	"DNA"	""	""
"0000322806"	"00321617"	"1"	"03704"	"00085"	"2009-02-13 14:35:58"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000322807"	"00321618"	"1"	"00085"	"00085"	"2008-05-15 16:31:44"	"00085"	"2014-03-18 16:14:46"	"RT-PCR;SEQ"	"RNA"	""	""
"0000322808"	"00321619"	"1"	"00085"	"00085"	"2008-03-11 10:21:02"	"00085"	"2014-03-18 16:17:00"	"SEQ"	"?"	""	""
"0000322809"	"00321620"	"1"	"00085"	"00085"	"2008-05-16 09:39:50"	"00085"	"2013-04-04 13:34:38"	"PCR;SEQ"	"DNA"	""	""
"0000322810"	"00321621"	"1"	"03870"	"03870"	"2017-03-17 11:41:35"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322811"	"00321622"	"1"	"00085"	"00085"	"2008-05-16 09:48:44"	"00085"	"2014-03-19 09:47:58"	"RT-PCR;SEQ;SSCA"	"RNA"	""	""
"0000322812"	"00321623"	"1"	"03867"	"03867"	"2013-01-16 08:21:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322814"	"00321625"	"1"	"00085"	"00085"	"2008-09-01 10:24:28"	"00085"	"2012-08-24 12:11:39"	"PCR;SEQ"	"DNA"	""	""
"0000322815"	"00321626"	"1"	"00085"	"00085"	"2014-08-05 11:42:25"	"00085"	"2014-08-05 13:56:45"	"PCRm;SEQ"	"DNA"	""	""
"0000322816"	"00321627"	"1"	"03872"	"03872"	"2014-12-21 02:33:23"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322817"	"00321628"	"1"	"00085"	"00085"	"2017-05-19 14:45:23"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000322818"	"00321629"	"1"	"00085"	"00085"	"2009-03-16 08:23:46"	"00085"	"2014-03-18 16:20:12"	"PCR;SEQ"	"DNA"	""	""
"0000322819"	"00321630"	"1"	"03855"	"03855"	"2009-12-29 14:19:41"	""	""	"SEQ"	"DNA"	""	""
"0000322820"	"00321631"	"1"	"03870"	"03870"	"2017-03-17 11:43:54"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322821"	"00321632"	"1"	"00085"	"00085"	"2008-07-31 10:24:52"	"00085"	"2014-03-18 16:24:05"	"?"	"?"	""	""
"0000322822"	"00321633"	"1"	"00085"	"00085"	"2008-07-31 10:39:05"	"00085"	"2013-04-24 10:35:25"	"PCR;SEQ"	"DNA"	""	""
"0000322823"	"00321634"	"1"	"00085"	"00085"	"2008-07-31 10:36:49"	"00085"	"2013-04-24 16:49:07"	"PCR;SEQ"	"DNA"	""	""
"0000322824"	"00321635"	"1"	"00085"	"00085"	"2009-07-01 15:26:30"	"00085"	"2014-03-20 11:38:38"	"PCR;SEQ"	"DNA"	""	""
"0000322825"	"00321636"	"1"	"00085"	"00085"	"2008-07-31 10:43:56"	"00085"	"2013-04-24 10:51:22"	"CSGE;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000322826"	"00321637"	"1"	"00085"	"00085"	"2008-03-11 11:15:46"	"00085"	"2013-04-24 10:43:52"	"SEQ"	"DNA"	""	""
"0000322827"	"00321638"	"1"	"03704"	"00085"	"2008-03-11 11:26:51"	"00085"	"2014-03-18 16:25:16"	"?"	"?"	""	""
"0000322828"	"00321639"	"1"	"00085"	"00085"	"2008-03-11 11:28:03"	"00085"	"2014-03-18 16:26:22"	"?"	"?"	""	""
"0000322829"	"00321640"	"1"	"00085"	"00085"	"2008-03-11 10:29:18"	"00085"	"2013-04-24 10:43:52"	"SEQ"	"DNA"	""	""
"0000322830"	"00321641"	"1"	"00085"	"00085"	"2008-03-11 11:11:44"	"00085"	"2014-02-18 14:03:40"	"?"	"?"	""	""
"0000322831"	"00321642"	"1"	"03704"	"00085"	"2008-03-11 11:12:54"	"00085"	"2014-03-18 16:27:10"	"?"	"?"	""	""
"0000322832"	"00321643"	"1"	"00085"	"00085"	"2008-03-11 11:35:20"	"00085"	"2013-04-24 10:43:52"	"SEQ"	"DNA"	""	""
"0000322833"	"00321644"	"1"	"03704"	"00085"	"2008-03-11 11:41:26"	"00085"	"2014-03-18 16:27:54"	"?"	"?"	""	""
"0000322834"	"00321645"	"1"	"00085"	"00085"	"2008-05-16 09:53:08"	"00085"	"2013-04-04 13:38:06"	"PCR;SEQ"	"DNA"	""	""
"0000322835"	"00321646"	"1"	"00085"	"00085"	"2011-06-24 09:39:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322836"	"00321647"	"1"	"00085"	"00085"	"2008-10-06 14:30:57"	"00085"	"2008-12-10 13:36:42"	"?"	"?"	""	""
"0000322837"	"00321648"	"1"	"01819"	"01819"	"2011-09-21 13:26:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322838"	"00321649"	"1"	"00085"	"00085"	"2013-03-12 12:32:10"	""	""	"SEQ"	"?"	""	""
"0000322839"	"00321650"	"1"	"03897"	"00085"	"2019-08-28 14:02:56"	""	""	"SEQ"	"DNA"	""	""
"0000322840"	"00321651"	"1"	"00085"	"00085"	"2019-08-15 16:03:40"	"00085"	"2019-08-28 15:52:52"	"SEQ-NG"	"DNA"	""	""
"0000322841"	"00321652"	"1"	"00085"	"00085"	"2008-03-11 11:48:44"	"00085"	"2014-03-18 16:28:42"	"?"	"?"	""	""
"0000322842"	"00321653"	"1"	"03865"	"03865"	"2012-06-23 15:39:54"	"00085"	"2013-08-23 13:42:29"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322843"	"00321654"	"1"	"03865"	"03865"	"2012-06-23 15:42:09"	"00085"	"2013-08-23 13:42:48"	"MS;PCR;SEQ"	"DNA"	""	""
"0000322844"	"00321655"	"1"	"00085"	"00085"	"2008-03-11 11:54:12"	"00085"	"2014-03-18 16:29:30"	"?"	"?"	""	""
"0000322845"	"00321656"	"1"	"00085"	"00085"	"2008-05-16 10:01:57"	"00085"	"2013-04-24 10:19:03"	"PCR;SEQ"	"DNA"	""	""
"0000322846"	"00321657"	"1"	"03870"	"03870"	"2010-06-18 15:08:39"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322847"	"00321658"	"1"	"03855"	"03855"	"2009-12-29 14:23:36"	""	""	"SEQ"	"DNA"	""	""
"0000322848"	"00321659"	"1"	"03870"	"03870"	"2008-12-16 16:54:38"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322850"	"00321661"	"1"	"03870"	"03870"	"2017-03-20 16:26:27"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000322851"	"00321662"	"1"	"00085"	"00085"	"2008-03-11 15:38:41"	"00085"	"2013-04-24 10:35:24"	"SEQ"	"DNA"	""	""
"0000322852"	"00321663"	"1"	"00085"	"00085"	"2008-05-16 10:05:59"	"00085"	"2013-04-24 10:35:24"	"PCR;SEQ"	"DNA"	""	""
"0000322853"	"00321664"	"1"	"00085"	"00085"	"2008-03-11 11:56:20"	"00085"	"2014-03-18 16:30:48"	"?"	"?"	""	""
"0000322854"	"00321665"	"1"	"00085"	"00085"	"2008-03-11 12:48:44"	"00085"	"2014-03-18 16:32:30"	"SEQ"	"RNA"	""	""
"0000322855"	"00321666"	"1"	"00085"	"00085"	"2008-03-11 12:52:50"	"00085"	"2012-05-30 13:07:33"	"CSGE;SEQ"	"DNA"	""	""
"0000322856"	"00321667"	"1"	"00085"	"00085"	"2008-03-17 15:50:03"	"00085"	"2013-04-24 10:53:30"	"PCR;SEQ"	"DNA"	""	""
"0000322857"	"00321668"	"1"	"03704"	"00085"	"2008-03-11 15:33:40"	"00085"	"2014-03-20 11:31:21"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000322858"	"00321669"	"1"	"03853"	"03853"	"2008-11-05 18:00:53"	"00085"	"2008-11-18 16:42:49"	"SEQ"	"DNA"	""	""
"0000322859"	"00321670"	"1"	"00085"	"00085"	"2011-06-02 08:14:21"	"00085"	"2014-03-03 10:36:44"	"PCR;SEQ"	"DNA"	""	""
"0000322860"	"00321671"	"1"	"00085"	"00085"	"2008-07-31 10:52:52"	"00085"	"2014-07-25 15:40:23"	"PCR;SEQ"	"DNA"	""	""
"0000322861"	"00321672"	"1"	"01819"	"01819"	"2011-09-21 14:30:21"	"00085"	"2014-07-25 15:42:42"	"PCR;SEQ"	"DNA"	""	""
"0000322862"	"00321673"	"1"	"03867"	"03867"	"2014-05-28 11:01:16"	"00085"	"2014-07-25 15:37:25"	"PCR;SEQ"	"DNA"	""	""
"0000322863"	"00321674"	"1"	"03882"	"00085"	"2016-06-03 08:30:54"	"00085"	"2016-06-03 08:34:57"	"PCR;SEQ"	"DNA"	""	""
"0000322864"	"00321675"	"1"	"00085"	"00085"	"2008-07-31 10:48:29"	"00085"	"2014-03-18 16:33:13"	"?"	"?"	""	""
"0000322865"	"00321676"	"1"	"03704"	"00085"	"2008-07-31 10:58:24"	"00085"	"2015-04-17 16:21:17"	"?"	"?"	""	""
"0000322866"	"00321677"	"1"	"00085"	"00085"	"2008-07-31 10:59:22"	"00085"	"2013-04-24 09:37:54"	"?"	"?"	""	""
"0000322867"	"00321678"	"1"	"03870"	"03870"	"2009-11-25 16:48:35"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322868"	"00321679"	"1"	"03855"	"03855"	"2009-12-29 14:24:53"	""	""	"SEQ"	"DNA"	""	""
"0000322869"	"00321680"	"1"	"00085"	"00085"	"2008-05-16 10:11:46"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322870"	"00321681"	"1"	"03704"	"00085"	"2011-03-07 15:40:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322871"	"00321682"	"1"	"00085"	"00085"	"2018-01-18 11:44:44"	"00085"	"2018-01-18 12:08:20"	"PCR;SEQ"	"DNA"	""	""
"0000322872"	"00321683"	"1"	"00085"	"00085"	"2018-01-19 08:34:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322873"	"00321684"	"1"	"00085"	"00085"	"2018-01-19 08:36:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322874"	"00321685"	"1"	"00085"	"00085"	"2008-05-16 10:15:23"	"00085"	"2013-04-24 10:51:22"	"CSGE;RT-PCR;SEQ"	"RNA"	""	""
"0000322875"	"00321686"	"1"	"03855"	"03855"	"2009-12-29 14:25:48"	"00085"	"2016-02-22 08:30:51"	"SEQ"	"DNA"	""	""
"0000322876"	"00321687"	"1"	"03867"	"03867"	"2013-01-16 08:24:38"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322877"	"00321688"	"1"	"03894"	"03894"	"2018-09-27 13:25:20"	"03894"	"2018-09-28 08:13:55"	"PCR;SEQ"	"DNA"	""	""
"0000322880"	"00321691"	"1"	"00085"	"00085"	"2014-10-30 10:23:55"	""	""	"SEQ"	"DNA"	""	""
"0000322881"	"00321692"	"1"	"00085"	"00085"	"2018-05-31 09:44:26"	"00085"	"2018-05-31 09:47:04"	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000322882"	"00321693"	"1"	"01819"	"01819"	"2011-09-21 14:32:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322883"	"00321694"	"1"	"00085"	"00085"	"2019-08-15 16:13:30"	"00085"	"2019-08-28 15:59:11"	"SEQ-NG"	"DNA"	""	""
"0000322884"	"00321695"	"1"	"00085"	"00085"	"2008-07-31 11:05:45"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322885"	"00321696"	"1"	"00085"	"00085"	"2019-08-15 16:24:06"	"00085"	"2019-08-28 16:04:42"	"SEQ-NG"	"DNA"	""	""
"0000322886"	"00321697"	"1"	"00085"	"00085"	"2019-08-23 14:33:01"	"00085"	"2019-08-28 16:08:12"	"SEQ-NG"	"DNA"	""	""
"0000322887"	"00321698"	"1"	"00475"	"00475"	"2010-01-14 17:03:31"	""	""	"SEQ"	"DNA"	""	""
"0000322888"	"00321699"	"1"	"03870"	"03870"	"2011-03-10 11:58:49"	"00085"	"2013-04-22 11:06:11"	"DHPLC;SEQ"	"DNA"	""	""
"0000322889"	"00321700"	"1"	"03894"	"03894"	"2018-09-27 11:51:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322890"	"00321701"	"1"	"00085"	"00085"	"2008-05-16 10:20:35"	"00085"	"2012-05-30 13:08:08"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322891"	"00321702"	"1"	"00085"	"00085"	"2008-03-11 15:18:05"	"00085"	"2013-04-24 10:19:03"	"SEQ"	"DNA"	""	""
"0000322892"	"00321703"	"1"	"00085"	"00085"	"2019-08-27 11:25:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000322893"	"00321704"	"1"	"00085"	"00085"	"2019-08-27 11:31:15"	"00085"	"2019-08-27 11:32:48"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000322894"	"00321705"	"1"	"00085"	"00085"	"2009-07-01 15:16:13"	"00085"	"2014-03-20 09:37:39"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000322895"	"00321706"	"1"	"00085"	"00085"	"2008-03-10 15:05:45"	"00085"	"2014-03-18 16:34:59"	"?"	"?"	""	""
"0000322896"	"00321707"	"1"	"00085"	"00085"	"2008-03-11 12:57:52"	"00085"	"2014-03-18 16:35:56"	"SEQ"	"RNA"	""	""
"0000322897"	"00321708"	"1"	"00085"	"00085"	"2014-10-08 13:00:27"	""	""	"SEQ-NG"	"DNA"	""	""
"0000322898"	"00321709"	"1"	"03855"	"03855"	"2009-12-29 14:35:32"	""	""	"SEQ"	"DNA"	""	""
"0000322899"	"00321710"	"1"	"00085"	"00085"	"2008-05-16 10:24:07"	"00085"	"2013-04-24 10:51:22"	"CSGE;RT-PCR;SEQ"	"RNA"	""	""
"0000322900"	"00321711"	"1"	"00085"	"00085"	"2008-05-15 13:44:42"	"00085"	"2014-03-18 16:37:39"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000322901"	"00321712"	"1"	"00085"	"00085"	"2018-08-03 09:25:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322902"	"00321713"	"1"	"03879"	"03879"	"2014-12-05 15:58:41"	"00085"	"2015-08-10 09:46:46"	"PCR;SEQ"	"DNA"	""	""
"0000322903"	"00321714"	"1"	"00085"	"00085"	"2014-10-08 13:03:23"	"00085"	"2015-02-09 08:41:25"	"SEQ-NG"	"DNA"	""	""
"0000322904"	"00321715"	"1"	"00085"	"00085"	"2008-04-11 10:20:01"	"00085"	"2014-04-07 08:58:08"	"PCR;SEQ"	"DNA"	""	""
"0000322905"	"00321716"	"1"	"00085"	"00085"	"2008-04-11 10:23:50"	"00085"	"2013-04-24 10:53:30"	"PCR;SEQ"	"DNA"	""	""
"0000322906"	"00321717"	"1"	"03870"	"03870"	"2009-09-29 15:09:29"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322907"	"00321718"	"1"	"03704"	"00085"	"2008-03-11 15:05:22"	"00085"	"2013-04-24 10:47:46"	"SEQ;SSCA"	"DNA"	""	""
"0000322908"	"00321719"	"1"	"00085"	"00085"	"2008-03-11 15:08:06"	"00085"	"2014-03-18 16:39:25"	"SEQ;CSGE"	"DNA"	""	""
"0000322909"	"00321720"	"1"	"03870"	"03870"	"2009-04-16 09:10:10"	"00085"	"2014-03-20 09:15:28"	"DHPLC;SEQ"	"DNA"	""	""
"0000322910"	"00321721"	"1"	"00085"	"00085"	"2011-06-24 09:48:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322911"	"00321722"	"1"	"03879"	"03879"	"2014-12-05 14:22:12"	"00085"	"2015-08-10 09:47:34"	"PCR;SEQ"	"DNA"	""	""
"0000322912"	"00321723"	"1"	"03879"	"03879"	"2014-12-08 11:56:58"	"00085"	"2015-08-10 09:27:02"	"PCR;SEQ"	"DNA"	""	""
"0000322913"	"00321724"	"1"	"03879"	"03879"	"2014-12-09 13:02:24"	"00085"	"2015-08-10 09:26:19"	"PCR;SEQ"	"DNA"	""	""
"0000322914"	"00321725"	"1"	"03870"	"03870"	"2017-03-20 16:27:23"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322916"	"00321727"	"1"	"03894"	"03894"	"2018-09-27 13:14:37"	"03894"	"2018-09-28 08:15:04"	"PCR;SEQ"	"DNA"	""	""
"0000322917"	"00321728"	"1"	"03894"	"03894"	"2018-09-27 13:44:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322918"	"00321729"	"1"	"03894"	"03894"	"2018-09-27 13:50:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322919"	"00321730"	"1"	"03897"	"00085"	"2019-08-28 15:32:57"	""	""	"SEQ"	"DNA"	""	""
"0000322920"	"00321731"	"1"	"03879"	"03879"	"2014-12-08 12:54:07"	"00085"	"2015-08-10 09:22:04"	"PCR;SEQ"	"DNA"	""	""
"0000322921"	"00321732"	"1"	"03879"	"03879"	"2014-12-08 12:56:07"	"00085"	"2015-08-10 09:21:28"	"PCR;SEQ"	"DNA"	""	""
"0000322922"	"00321733"	"1"	"03879"	"03879"	"2014-12-08 12:57:10"	"00085"	"2015-08-10 09:20:27"	"PCR;SEQ"	"DNA"	""	""
"0000322923"	"00321734"	"1"	"03704"	"00085"	"2008-05-16 10:37:16"	"00085"	"2013-10-16 09:07:26"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000322924"	"00321735"	"1"	"03871"	"03871"	"2013-09-06 11:10:01"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000322925"	"00321736"	"1"	"00085"	"00085"	"2008-03-10 15:19:50"	"00085"	"2014-03-18 16:40:26"	"?"	"?"	""	""
"0000322926"	"00321737"	"1"	"03855"	"03855"	"2009-12-29 14:26:30"	""	""	"SEQ"	"DNA"	""	""
"0000322927"	"00321738"	"1"	"00085"	"00085"	"2014-08-05 14:30:23"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000322928"	"00321739"	"1"	"00085"	"00085"	"2008-03-11 13:02:27"	"00085"	"2013-04-24 10:11:49"	"SEQ;SSCA"	"RNA"	""	""
"0000322929"	"00321740"	"1"	"03897"	"03897"	"2020-04-11 12:04:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322930"	"00321741"	"1"	"03704"	"00085"	"2008-03-10 15:37:33"	"00085"	"2014-03-18 16:41:48"	"?"	"?"	""	""
"0000322931"	"00321742"	"1"	"03704"	"00085"	"2008-03-10 15:39:03"	"00085"	"2014-03-18 16:48:08"	"?"	"?"	""	""
"0000322932"	"00321743"	"1"	"00085"	"00085"	"2008-03-10 15:42:20"	"00085"	"2014-03-19 09:12:30"	"?"	"?"	""	""
"0000322933"	"00321744"	"1"	"00085"	"00085"	"2008-03-11 14:56:32"	"00085"	"2013-04-24 10:51:22"	"CSGE;SEQ"	"RNA"	""	""
"0000322934"	"00321745"	"1"	"03704"	"00085"	"2011-02-17 15:40:46"	"00085"	"2011-02-18 08:16:35"	"PCR;SEQ"	"DNA"	""	""
"0000322935"	"00321746"	"1"	"03704"	"00085"	"2008-03-10 15:22:28"	"00085"	"2014-03-19 09:13:26"	"?"	"?"	""	""
"0000322936"	"00321747"	"1"	"03704"	"00085"	"2008-03-10 15:25:32"	"00085"	"2014-03-19 09:14:04"	"?"	"?"	""	""
"0000322937"	"00321748"	"1"	"03704"	"00085"	"2008-03-10 15:33:41"	"00085"	"2014-03-19 09:14:52"	"?"	"?"	""	""
"0000322938"	"00321749"	"1"	"03704"	"00085"	"2008-03-11 14:39:44"	"00085"	"2013-04-24 10:38:26"	"SEQ"	"protein"	""	""
"0000322939"	"00321750"	"1"	"00085"	"00085"	"2008-03-11 14:42:56"	"00085"	"2013-04-24 10:43:52"	"SEQ"	"DNA"	""	""
"0000322940"	"00321751"	"1"	"03879"	"03879"	"2014-12-08 10:52:59"	"00085"	"2015-08-10 09:18:52"	"PCR;SEQ"	"DNA"	""	""
"0000322941"	"00321752"	"1"	"03879"	"03879"	"2014-12-08 10:54:42"	"00085"	"2015-08-10 09:19:37"	"PCR;SEQ"	"DNA"	""	""
"0000322942"	"00321753"	"1"	"00085"	"00085"	"2009-02-26 11:52:29"	"00085"	"2014-03-18 16:43:09"	"PCR;SEQ"	"DNA"	""	""
"0000322943"	"00321754"	"1"	"00085"	"00085"	"2009-11-30 13:06:25"	"00085"	"2014-04-29 09:00:48"	"?"	"?"	""	""
"0000322944"	"00321755"	"1"	"03855"	"03855"	"2009-12-29 14:31:36"	"00085"	"2010-04-07 10:37:29"	"SEQ"	"DNA"	""	""
"0000322945"	"00321756"	"1"	"03885"	"03885"	"2016-10-04 15:41:01"	"00085"	"2017-03-13 16:29:12"	"SEQ"	"DNA"	""	""
"0000322946"	"00321757"	"1"	"03894"	"03894"	"2018-09-27 10:48:47"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000322947"	"00321758"	"1"	"00085"	"00085"	"2012-11-13 10:50:53"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322948"	"00321759"	"1"	"00085"	"00085"	"2008-07-31 11:11:22"	"00085"	"2012-11-13 10:47:42"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000322950"	"00321761"	"1"	"01819"	"01819"	"2011-09-21 14:33:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322951"	"00321762"	"1"	"00085"	"00085"	"2008-07-31 11:29:22"	"00085"	"2014-03-19 09:15:30"	"?"	"?"	""	""
"0000322952"	"00321763"	"1"	"00085"	"00085"	"2008-07-31 11:30:38"	"00085"	"2014-03-19 09:16:04"	"?"	"?"	""	""
"0000322953"	"00321764"	"1"	"00085"	"00085"	"2008-07-31 11:31:18"	"00085"	"2014-03-19 09:16:41"	"?"	"?"	""	""
"0000322954"	"00321765"	"1"	"03855"	"03855"	"2009-12-29 14:32:30"	""	""	"SEQ"	"DNA"	""	""
"0000322955"	"00321766"	"1"	"00085"	"00085"	"2008-07-31 11:33:21"	"00085"	"2014-03-19 09:17:20"	"?"	"?"	""	""
"0000322956"	"00321767"	"1"	"01819"	"01819"	"2011-09-21 13:28:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322957"	"00321768"	"1"	"03855"	"03855"	"2009-12-29 14:37:33"	""	""	"SEQ"	"DNA"	""	""
"0000322958"	"00321769"	"1"	"03894"	"03894"	"2018-09-27 11:19:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322959"	"00321770"	"1"	"03704"	"00085"	"2008-03-10 15:59:08"	"00085"	"2013-12-18 12:21:02"	"?"	"?"	""	""
"0000322960"	"00321771"	"1"	"00085"	"00085"	"2008-03-10 16:08:25"	"00085"	"2014-03-19 09:18:09"	"?"	"?"	""	""
"0000322961"	"00321772"	"1"	"00085"	"00085"	"2008-03-10 16:09:34"	"00085"	"2014-03-19 09:19:33"	"?"	"?"	""	""
"0000322962"	"00321773"	"1"	"00085"	"00085"	"2008-03-10 16:11:40"	"00085"	"2014-03-19 09:20:10"	"?"	"?"	""	""
"0000322963"	"00321774"	"1"	"00085"	"00085"	"2008-03-11 15:50:20"	"00085"	"2013-03-18 16:15:23"	"SEQ;SSCA"	"RNA"	""	""
"0000322964"	"00321775"	"1"	"03853"	"03853"	"2009-02-06 13:13:17"	"00085"	"2014-03-20 09:16:21"	"SEQ"	"DNA"	""	""
"0000322965"	"00321776"	"1"	"03855"	"03855"	"2009-12-29 14:40:24"	""	""	"SEQ"	"DNA"	""	""
"0000322966"	"00321777"	"1"	"03855"	"03855"	"2009-12-29 14:41:02"	""	""	"SEQ"	"DNA"	""	""
"0000322967"	"00321778"	"1"	"03855"	"03855"	"2009-12-29 14:43:06"	""	""	"SEQ"	"DNA"	""	""
"0000322968"	"00321779"	"1"	"03855"	"03855"	"2009-12-30 11:09:07"	""	""	"SEQ"	"DNA"	""	""
"0000322969"	"00321780"	"1"	"00085"	"00085"	"2011-06-24 13:19:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322970"	"00321781"	"1"	"00085"	"00085"	"2014-04-02 09:47:37"	"00085"	"2014-04-02 09:47:59"	"PCR;SEQ"	"DNA"	""	""
"0000322971"	"00321782"	"1"	"03879"	"03879"	"2014-12-08 13:30:37"	"00085"	"2015-08-10 09:18:20"	"PCR;SEQ"	"DNA"	""	""
"0000322972"	"00321783"	"1"	"03894"	"03894"	"2018-09-27 12:08:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322973"	"00321784"	"1"	"00085"	"00085"	"2019-08-15 16:27:55"	"00085"	"2019-08-28 16:11:11"	"SEQ-NG"	"DNA"	""	""
"0000322974"	"00321785"	"1"	"00085"	"00085"	"2008-03-11 16:13:00"	"03701"	"2020-11-18 12:25:30"	"SEQ"	"RNA"	""	""
"0000322975"	"00321786"	"1"	"00085"	"00085"	"2008-03-11 16:36:53"	"00085"	"2013-04-24 16:49:07"	"SEQ"	"DNA"	""	""
"0000322977"	"00321788"	"1"	"00085"	"00085"	"2014-04-02 09:44:56"	"00085"	"2014-06-24 09:09:35"	"PCR;SEQ"	"DNA"	""	""
"0000322978"	"00321789"	"1"	"00085"	"00085"	"2009-02-26 11:55:46"	"00085"	"2014-03-18 16:45:05"	"PCR;SEQ"	"DNA"	""	""
"0000322979"	"00321790"	"1"	"00085"	"00085"	"2009-11-30 13:03:37"	""	""	"?"	"?"	""	""
"0000322980"	"00321791"	"1"	"03897"	"03897"	"2020-04-11 11:19:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322981"	"00321792"	"1"	"03704"	"00085"	"2008-03-10 16:13:26"	"00085"	"2014-03-19 09:20:52"	"?"	"?"	""	""
"0000322982"	"00321793"	"1"	"03704"	"00085"	"2008-03-11 16:32:44"	"00085"	"2014-03-19 09:22:21"	"SEQ"	"RNA"	""	""
"0000322984"	"00321795"	"1"	"00085"	"00085"	"2015-03-10 09:58:49"	"00085"	"2016-02-16 13:45:54"	"PCR;SEQ;arraySEQ"	"DNA"	""	""
"0000322985"	"00321796"	"1"	"03894"	"03894"	"2018-09-27 13:28:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322986"	"00321797"	"1"	"03704"	"00085"	"2011-03-07 15:46:40"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322987"	"00321798"	"1"	"03897"	"03897"	"2020-04-11 18:29:05"	"03897"	"2020-04-11 18:45:05"	"PCR;SEQ"	"DNA"	""	""
"0000322988"	"00321799"	"1"	"03865"	"03865"	"2012-06-23 15:44:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322989"	"00321800"	"1"	"00085"	"00085"	"2008-03-11 16:42:16"	"00085"	"2013-04-24 10:35:24"	"SEQ"	"DNA"	""	""
"0000322990"	"00321801"	"1"	"00085"	"00085"	"2008-03-10 16:15:28"	"00085"	"2014-03-19 09:23:35"	"?"	"?"	""	""
"0000322991"	"00321802"	"1"	"03704"	"00085"	"2008-03-10 16:17:17"	"00085"	"2014-03-19 09:24:25"	"?"	"?"	""	""
"0000322992"	"00321803"	"1"	"00085"	"00085"	"2008-03-12 08:44:28"	"00085"	"2014-03-19 09:26:03"	"SEQ"	"DNA"	""	""
"0000322993"	"00321804"	"1"	"03704"	"00085"	"2008-03-10 16:20:04"	"00085"	"2014-03-19 09:27:40"	"?"	"?"	""	""
"0000322994"	"00321805"	"1"	"00085"	"00085"	"2008-03-12 08:57:32"	"00085"	"2014-03-19 09:28:55"	"?"	"?"	""	""
"0000322995"	"00321806"	"1"	"03870"	"03870"	"2010-12-13 15:32:08"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000322996"	"00321807"	"1"	"00085"	"00085"	"2008-03-12 09:05:19"	"00085"	"2014-03-19 09:30:22"	"SEQ;CMC"	"RNA"	""	""
"0000322997"	"00321808"	"1"	"03704"	"00085"	"2011-03-07 16:33:51"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000322998"	"00321809"	"1"	"00085"	"00085"	"2008-03-12 09:11:06"	"00085"	"2013-03-18 16:07:44"	"SEQ;SSCA"	"RNA"	""	""
"0000322999"	"00321810"	"1"	"03856"	"03856"	"2009-09-25 11:00:06"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323000"	"00321811"	"1"	"00085"	"00085"	"2011-06-24 13:28:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323001"	"00321812"	"1"	"03870"	"03870"	"2017-03-20 16:29:39"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323002"	"00321813"	"1"	"03853"	"03853"	"2008-11-05 18:05:03"	"00085"	"2008-11-19 08:53:07"	"SEQ"	"DNA"	""	""
"0000323003"	"00321814"	"1"	"03879"	"03879"	"2014-12-04 08:52:33"	"00085"	"2015-08-10 09:13:25"	"PCR;SEQ"	"DNA"	""	""
"0000323004"	"00321815"	"1"	"03879"	"03879"	"2014-12-08 08:18:53"	"00085"	"2015-08-10 09:17:35"	"PCR;SEQ"	"DNA"	""	""
"0000323005"	"00321816"	"1"	"03872"	"03872"	"2015-04-27 14:53:18"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323006"	"00321817"	"1"	"03894"	"03894"	"2018-09-27 11:15:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323007"	"00321818"	"1"	"03885"	"03885"	"2016-10-04 16:03:18"	""	""	"SEQ"	"DNA"	""	""
"0000323008"	"00321819"	"1"	"00085"	"00085"	"2014-02-05 09:32:51"	"00085"	"2014-02-05 09:33:48"	"PCR;SEQ"	"DNA"	""	""
"0000323009"	"00321820"	"1"	"00085"	"00085"	"2018-01-18 15:52:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323010"	"00321821"	"1"	"03885"	"03885"	"2016-10-04 16:06:00"	"00085"	"2017-03-13 16:35:09"	"SEQ"	"DNA"	""	""
"0000323011"	"00321822"	"1"	"03853"	"03853"	"2009-05-20 14:47:07"	"00085"	"2014-08-05 11:44:26"	"SEQ"	"DNA"	""	""
"0000323012"	"00321823"	"1"	"03704"	"00085"	"2008-03-10 16:22:08"	"00085"	"2014-03-19 09:34:38"	"?"	"?"	""	""
"0000323013"	"00321824"	"1"	"03853"	"03853"	"2010-05-03 14:27:27"	""	""	"SEQ"	"DNA"	""	""
"0000323014"	"00321825"	"1"	"03894"	"03894"	"2018-09-25 14:31:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323015"	"00321826"	"1"	"00085"	"00085"	"2008-07-31 11:51:38"	"00085"	"2012-07-10 15:31:41"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323016"	"00321827"	"1"	"03870"	"03870"	"2010-07-12 15:39:39"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323017"	"00321828"	"1"	"03870"	"03870"	"2017-03-20 16:31:12"	""	""	"SEQ"	"DNA"	""	""
"0000323018"	"00321829"	"1"	"03870"	"03870"	"2017-03-20 16:32:31"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323019"	"00321830"	"1"	"03855"	"03855"	"2009-12-30 10:29:26"	""	""	"SEQ"	"DNA"	""	""
"0000323020"	"00321831"	"1"	"03704"	"00085"	"2008-03-10 16:23:54"	"00085"	"2014-03-19 10:38:51"	"?"	"?"	""	""
"0000323021"	"00321832"	"1"	"00085"	"00085"	"2018-01-18 16:45:41"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323022"	"00321833"	"1"	"03855"	"03855"	"2009-12-30 10:25:08"	"00085"	"2010-04-07 15:29:52"	"SEQ"	"DNA"	""	""
"0000323023"	"00321834"	"1"	"03704"	"00085"	"2011-03-07 16:38:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323024"	"00321835"	"1"	"00085"	"00085"	"2008-03-12 09:17:13"	"00085"	"2014-03-19 10:39:54"	"SEQ"	"RNA"	""	""
"0000323026"	"00321837"	"1"	"03704"	"00085"	"2008-03-10 16:25:48"	"00085"	"2014-03-19 10:41:36"	"?"	"?"	""	""
"0000323027"	"00321838"	"1"	"03704"	"00085"	"2008-03-10 16:27:51"	"00085"	"2014-03-19 10:42:18"	"?"	"?"	""	""
"0000323028"	"00321839"	"1"	"00085"	"00085"	"2008-03-10 16:29:43"	"00085"	"2014-03-19 10:43:00"	"?"	"?"	""	""
"0000323029"	"00321840"	"1"	"00085"	"00085"	"2008-03-10 16:31:32"	"00085"	"2014-03-19 10:43:58"	"?"	"?"	""	""
"0000323030"	"00321841"	"1"	"00085"	"00085"	"2008-03-10 16:32:54"	"00085"	"2014-03-19 10:44:42"	"?"	"?"	""	""
"0000323031"	"00321842"	"1"	"00085"	"00085"	"2008-03-10 16:33:52"	"00085"	"2014-03-19 10:45:21"	"?"	"?"	""	""
"0000323032"	"00321843"	"1"	"00085"	"00085"	"2008-03-11 10:45:24"	"00085"	"2014-03-19 10:53:20"	"?"	"?"	""	""
"0000323033"	"00321844"	"1"	"00085"	"00085"	"2008-03-11 10:46:35"	"00085"	"2014-03-19 10:53:57"	"?"	"?"	""	""
"0000323034"	"00321845"	"1"	"00085"	"00085"	"2008-03-11 10:48:40"	"00085"	"2014-03-19 10:54:37"	"?"	"?"	""	""
"0000323035"	"00321846"	"1"	"00085"	"00085"	"2008-03-11 10:50:04"	"00085"	"2014-03-19 10:55:29"	"?"	"?"	""	""
"0000323036"	"00321847"	"1"	"00085"	"00085"	"2008-03-11 10:51:08"	"00085"	"2014-03-19 10:56:10"	"?"	"?"	""	""
"0000323037"	"00321848"	"1"	"00085"	"00085"	"2008-03-12 09:35:01"	"00085"	"2014-03-19 10:56:59"	"SEQ;CMC"	"RNA"	""	""
"0000323038"	"00321849"	"1"	"00085"	"00085"	"2008-03-12 09:40:17"	"00085"	"2014-03-19 10:58:00"	"SEQ"	"RNA"	""	""
"0000323039"	"00321850"	"1"	"00085"	"00085"	"2008-03-12 10:03:53"	"00085"	"2013-04-26 09:45:24"	"SEQ"	"RNA"	""	""
"0000323040"	"00321851"	"1"	"03704"	"00085"	"2008-03-12 10:07:59"	"00085"	"2014-03-19 10:58:48"	"DGGE;SEQ"	"DNA"	""	""
"0000323041"	"00321852"	"1"	"00085"	"00085"	"2008-03-12 10:11:19"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323042"	"00321853"	"1"	"00085"	"00085"	"2008-03-12 10:13:28"	"00085"	"2013-04-24 16:49:07"	"SEQ"	"DNA"	""	""
"0000323043"	"00321854"	"1"	"03870"	"03870"	"2009-07-30 10:13:22"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323044"	"00321855"	"1"	"03853"	"03853"	"2009-12-18 15:18:39"	""	""	"SEQ"	"DNA"	""	""
"0000323045"	"00321856"	"1"	"03870"	"03870"	"2010-10-26 17:32:58"	"00085"	"2013-04-22 11:07:19"	"DHPLC;SEQ"	"DNA"	""	""
"0000323046"	"00321857"	"1"	"00085"	"00085"	"2011-06-24 13:57:38"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323047"	"00321858"	"1"	"00085"	"00085"	"2011-06-24 14:01:09"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323048"	"00321859"	"1"	"00085"	"00085"	"2011-06-24 14:02:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323049"	"00321860"	"1"	"00085"	"00085"	"2011-06-24 14:03:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323050"	"00321861"	"1"	"03865"	"03865"	"2012-06-23 15:46:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323051"	"00321862"	"1"	"00085"	"00085"	"2014-04-02 09:51:19"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323052"	"00321863"	"1"	"00085"	"00085"	"2014-08-05 15:46:25"	"00085"	"2014-08-05 16:19:47"	"PCRm;SEQ"	"DNA"	""	""
"0000323053"	"00321864"	"1"	"03872"	"03872"	"2015-04-17 14:40:05"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323055"	"00321866"	"1"	"00085"	"00085"	"2015-10-08 11:16:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323056"	"00321867"	"1"	"00085"	"00085"	"2016-08-04 14:38:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323057"	"00321868"	"1"	"00085"	"00085"	"2017-03-17 11:18:58"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000323058"	"00321869"	"1"	"03870"	"03870"	"2017-03-21 10:30:28"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323059"	"00321870"	"1"	"03870"	"03870"	"2017-03-21 10:31:46"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323060"	"00321871"	"1"	"00085"	"00085"	"2018-01-18 16:42:51"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323061"	"00321872"	"1"	"00085"	"00085"	"2018-01-19 08:42:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323062"	"00321873"	"1"	"03894"	"03894"	"2018-09-25 12:40:09"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323063"	"00321874"	"1"	"03894"	"03894"	"2018-09-27 08:39:59"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323064"	"00321875"	"1"	"03894"	"03894"	"2018-09-27 12:04:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323065"	"00321876"	"1"	"03894"	"03894"	"2018-09-27 12:05:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323066"	"00321877"	"1"	"03894"	"03894"	"2018-09-27 13:23:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323067"	"00321878"	"1"	"03894"	"03894"	"2018-09-27 14:01:49"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323068"	"00321879"	"1"	"00085"	"00085"	"2019-04-17 13:51:25"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000323071"	"00321882"	"1"	"00085"	"00085"	"2017-04-24 14:28:49"	""	""	"SEQ"	"DNA"	""	""
"0000323072"	"00321883"	"1"	"00085"	"00085"	"2008-03-12 10:31:10"	"00085"	"2013-04-24 10:32:39"	"SEQ"	"DNA"	""	""
"0000323073"	"00321884"	"1"	"00475"	"00475"	"2010-01-15 13:22:57"	""	""	"SEQ"	"DNA"	""	""
"0000323074"	"00321885"	"1"	"03704"	"00085"	"2008-03-11 10:52:34"	"00085"	"2011-02-18 09:40:45"	"?"	"?"	""	""
"0000323075"	"00321886"	"1"	"03704"	"00085"	"2008-03-11 10:53:35"	"00085"	"2014-03-19 10:59:27"	"?"	"?"	""	""
"0000323076"	"00321887"	"1"	"03855"	"03855"	"2009-12-30 10:26:51"	"00085"	"2010-04-07 10:47:44"	"SEQ"	"DNA"	""	""
"0000323077"	"00321888"	"1"	"03704"	"00085"	"2008-03-11 10:54:50"	"00085"	"2014-03-19 11:01:34"	"?"	"?"	""	""
"0000323078"	"00321889"	"1"	"00085"	"00085"	"2008-03-12 10:36:07"	"00085"	"2014-03-19 11:02:25"	"?"	"?"	""	""
"0000323079"	"00321890"	"1"	"00085"	"00085"	"2015-05-11 11:27:20"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000323080"	"00321891"	"1"	"03871"	"03871"	"2013-09-16 14:59:57"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323081"	"00321892"	"1"	"03872"	"03872"	"2013-12-13 08:57:04"	"00085"	"2015-09-07 08:47:29"	"SEQ"	"DNA"	""	""
"0000323082"	"00321893"	"1"	"00085"	"00085"	"2008-03-12 10:25:28"	"00085"	"2014-03-19 11:03:53"	"SEQ"	"RNA"	""	""
"0000323083"	"00321894"	"1"	"00085"	"00085"	"2015-12-07 15:49:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323084"	"00321895"	"1"	"00085"	"00085"	"2008-03-12 10:44:41"	"00085"	"2013-04-26 09:45:24"	"SEQ"	"RNA"	""	""
"0000323085"	"00321896"	"1"	"00085"	"00085"	"2011-06-24 14:06:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323086"	"00321897"	"1"	"01819"	"01819"	"2011-09-21 13:30:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323087"	"00321898"	"1"	"03879"	"03879"	"2014-12-05 13:43:52"	"00085"	"2015-08-10 09:11:32"	"PCR;SEQ"	"DNA"	""	""
"0000323088"	"00321899"	"1"	"03894"	"03894"	"2018-09-27 10:42:46"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000323089"	"00321900"	"1"	"03894"	"03894"	"2018-09-27 11:28:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323090"	"00321901"	"1"	"00085"	"00085"	"2008-05-16 12:01:39"	"00085"	"2014-03-18 16:49:43"	"PCR;RT-PCR;SEQ;NUC;SSCA"	"DNA;RNA"	""	""
"0000323091"	"00321902"	"1"	"03879"	"03879"	"2014-12-08 08:34:10"	"00085"	"2015-08-07 15:47:13"	"PCR;SEQ"	"DNA"	""	""
"0000323092"	"00321903"	"1"	"01819"	"01819"	"2011-09-21 14:36:01"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323093"	"00321904"	"1"	"03704"	"00085"	"2008-03-11 10:58:49"	"00085"	"2014-03-19 11:05:18"	"?"	"?"	""	""
"0000323094"	"00321905"	"1"	"00085"	"00085"	"2008-03-11 11:00:46"	"00085"	"2014-03-19 11:06:14"	"?"	"?"	""	""
"0000323095"	"00321906"	"1"	"00085"	"00085"	"2008-03-11 11:02:11"	"00085"	"2014-03-19 11:07:16"	"?"	"?"	""	""
"0000323096"	"00321907"	"1"	"00085"	"00085"	"2008-03-11 11:03:58"	"00085"	"2013-04-24 09:38:26"	"?"	"?"	""	""
"0000323097"	"00321908"	"1"	"03855"	"03855"	"2009-12-29 14:43:52"	""	""	"SEQ"	"DNA"	""	""
"0000323098"	"00321909"	"1"	"03865"	"03865"	"2012-06-23 15:49:23"	"00085"	"2013-08-23 13:43:25"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323099"	"00321910"	"1"	"03870"	"03870"	"2017-03-21 10:32:49"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323100"	"00321911"	"1"	"00085"	"00085"	"2018-05-31 09:29:55"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000323101"	"00321912"	"1"	"03894"	"03894"	"2018-09-25 12:45:54"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323102"	"00321913"	"1"	"03894"	"03894"	"2018-09-27 13:48:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323103"	"00321914"	"1"	"03897"	"03897"	"2020-04-11 16:26:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323104"	"00321915"	"1"	"03704"	"00085"	"2008-03-11 10:56:35"	"00085"	"2014-03-19 11:08:09"	"?"	"?"	""	""
"0000323105"	"00321916"	"1"	"03704"	"00085"	"2008-03-11 10:57:19"	"00085"	"2014-03-19 11:08:55"	"?"	"?"	""	""
"0000323106"	"00321917"	"1"	"00085"	"00085"	"2008-03-12 10:52:49"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323107"	"00321918"	"1"	"03870"	"03870"	"2010-07-26 15:58:09"	"00085"	"2013-04-22 11:08:16"	"DHPLC;SEQ"	"DNA"	""	""
"0000323108"	"00321919"	"1"	"00475"	"00475"	"2009-12-23 23:40:28"	""	""	"SEQ"	"DNA"	""	""
"0000323109"	"00321920"	"1"	"00475"	"00475"	"2010-01-14 17:08:24"	""	""	"SEQ"	"DNA"	""	""
"0000323110"	"00321921"	"1"	"00085"	"00085"	"2016-06-15 09:32:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323111"	"00321922"	"1"	"00085"	"00085"	"2015-12-09 16:31:42"	"00085"	"2015-12-09 16:32:52"	"PCR;SEQ"	"DNA"	""	""
"0000323112"	"00321923"	"1"	"00085"	"00085"	"2008-03-12 12:41:20"	"00085"	"2014-03-20 09:40:00"	"SEQ;SSCA"	"RNA"	""	""
"0000323113"	"00321924"	"1"	"00085"	"00085"	"2013-09-30 08:47:37"	""	""	"SEQ"	"DNA"	""	""
"0000323114"	"00321925"	"1"	"00475"	"00475"	"2010-01-14 17:12:58"	""	""	"SEQ"	"DNA"	""	""
"0000323115"	"00321926"	"1"	"03853"	"03853"	"2008-11-05 17:37:45"	"00085"	"2008-11-19 08:55:45"	"SEQ"	"DNA"	""	""
"0000323116"	"00321927"	"1"	"03897"	"03897"	"2020-03-26 14:22:48"	""	""	"PCR;SEQ"	"RNA"	""	""
"0000323117"	"00321928"	"1"	"03885"	"03885"	"2016-10-04 16:09:40"	""	""	"SEQ"	"DNA"	""	""
"0000323118"	"00321929"	"1"	"03894"	"03894"	"2018-09-25 14:14:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323120"	"00321931"	"1"	"03870"	"03870"	"2017-03-21 10:34:37"	""	""	"SEQ"	"DNA"	""	""
"0000323121"	"00321932"	"1"	"03870"	"03870"	"2017-03-21 10:35:51"	""	""	"SEQ"	"DNA"	""	""
"0000323122"	"00321933"	"1"	"03870"	"03870"	"2017-03-21 10:36:42"	""	""	"SEQ"	"DNA"	""	""
"0000323123"	"00321934"	"1"	"03894"	"03894"	"2018-09-27 08:54:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323125"	"00321936"	"1"	"00475"	"00475"	"2010-01-14 17:15:15"	""	""	"SEQ"	"DNA"	""	""
"0000323126"	"00321937"	"1"	"00085"	"00085"	"2011-06-24 14:08:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323127"	"00321938"	"1"	"03894"	"03894"	"2018-09-27 08:24:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323128"	"00321939"	"1"	"03879"	"03879"	"2014-12-05 15:22:27"	"00085"	"2015-08-10 09:10:54"	"PCR;SEQ"	"DNA"	""	""
"0000323129"	"00321940"	"1"	"03879"	"03879"	"2014-12-05 15:23:16"	"00085"	"2015-08-10 09:10:25"	"PCR;SEQ"	"DNA"	""	""
"0000323130"	"00321941"	"1"	"03879"	"03879"	"2014-12-05 15:24:15"	"00085"	"2015-08-07 16:27:57"	"PCR;SEQ"	"DNA"	""	""
"0000323131"	"00321942"	"1"	"03704"	"00085"	"2008-03-11 11:05:27"	"00085"	"2014-03-19 09:32:48"	"?"	"?"	""	""
"0000323132"	"00321943"	"1"	"03704"	"00085"	"2008-03-11 11:06:23"	"00085"	"2014-03-19 11:10:59"	"?"	"?"	""	""
"0000323133"	"00321944"	"1"	"00085"	"00085"	"2008-03-12 12:50:04"	"00085"	"2014-03-19 13:19:12"	"SEQ"	"RNA"	""	""
"0000323134"	"00321945"	"1"	"03704"	"00085"	"2009-02-13 14:49:16"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323135"	"00321946"	"1"	"01819"	"01819"	"2016-11-28 11:20:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323136"	"00321947"	"1"	"03897"	"03897"	"2020-04-11 16:30:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323137"	"00321948"	"1"	"03872"	"03872"	"2015-04-27 14:30:23"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323138"	"00321949"	"1"	"00085"	"00085"	"2008-05-16 16:14:51"	"00085"	"2013-03-18 15:44:05"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000323139"	"00321950"	"1"	"03862"	"03862"	"2011-02-03 08:23:02"	"00085"	"2012-08-01 11:45:12"	"SEQ"	"DNA"	""	""
"0000323140"	"00321951"	"1"	"00085"	"00085"	"2008-03-11 11:09:32"	"00085"	"2009-12-01 16:57:15"	"?"	"?"	""	""
"0000323141"	"00321952"	"1"	"03704"	"00085"	"2008-03-11 11:07:58"	"00085"	"2009-12-01 16:57:30"	"?"	"?"	""	""
"0000323142"	"00321953"	"1"	"00085"	"00085"	"2008-03-12 12:57:25"	"00085"	"2009-12-01 16:57:41"	"SEQ"	"RNA"	""	""
"0000323143"	"00321954"	"1"	"00085"	"00085"	"2016-04-12 16:05:01"	"00085"	"2016-04-12 16:05:19"	"PCR;SEQ"	"DNA"	""	""
"0000323145"	"00321956"	"1"	"00085"	"00085"	"2008-05-16 16:23:25"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323146"	"00321957"	"1"	"03879"	"03879"	"2014-12-02 10:44:48"	"00085"	"2015-08-07 16:27:14"	"PCR"	"DNA"	""	""
"0000323147"	"00321958"	"1"	"03879"	"03879"	"2014-12-02 10:46:50"	"00085"	"2015-08-07 16:26:23"	"PCR"	"DNA"	""	""
"0000323148"	"00321959"	"1"	"03870"	"03870"	"2017-03-21 10:37:55"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323149"	"00321960"	"1"	"00085"	"00085"	"2008-05-21 10:38:07"	"00085"	"2012-08-02 09:45:42"	"NUC;RT-PCR;SEQ"	"RNA"	""	""
"0000323150"	"00321961"	"1"	"00085"	"00085"	"2008-08-01 08:33:00"	"00085"	"2014-03-19 09:52:43"	"?"	"?"	""	""
"0000323151"	"00321962"	"1"	"00085"	"00085"	"2009-04-21 11:00:17"	"00085"	"2013-03-18 15:53:55"	"PCR;SEQ"	"DNA"	""	""
"0000323152"	"00321963"	"1"	"00085"	"00085"	"2009-04-21 11:07:03"	"00085"	"2013-03-18 15:54:31"	"PCR;SEQ"	"DNA"	""	""
"0000323153"	"00321964"	"1"	"00085"	"00085"	"2008-07-31 13:29:35"	"00085"	"2009-12-01 15:00:17"	"?"	"?"	""	""
"0000323154"	"00321965"	"1"	"00085"	"00085"	"2008-07-31 13:31:53"	"00085"	"2013-04-24 16:49:07"	"PCR;SEQ"	"DNA"	""	""
"0000323155"	"00321966"	"1"	"00085"	"00085"	"2014-10-20 09:28:56"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000323156"	"00321967"	"1"	"00085"	"00085"	"2008-07-31 13:35:18"	"00085"	"2013-04-24 10:23:45"	"PCR;SEQ"	"DNA"	""	""
"0000323158"	"00321969"	"1"	"03704"	"00085"	"2008-05-16 16:32:00"	"00085"	"2013-04-24 10:47:46"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000323160"	"00321971"	"1"	"00085"	"00085"	"2008-03-11 11:11:02"	"00085"	"2014-03-20 09:41:30"	"?"	"?"	""	""
"0000323161"	"00321972"	"1"	"00085"	"00085"	"2008-03-11 11:12:13"	"00085"	"2009-12-01 16:34:28"	"?"	"?"	""	""
"0000323162"	"00321973"	"1"	"03704"	"00085"	"2008-03-11 11:13:31"	"00085"	"2009-12-01 16:34:38"	"?"	"?"	""	""
"0000323163"	"00321974"	"1"	"03702"	"00085"	"2008-03-12 13:13:57"	"00085"	"2014-03-19 13:24:08"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000323164"	"00321975"	"1"	"00085"	"00085"	"2008-03-12 13:55:48"	"00085"	"2014-03-19 14:28:05"	"SEQ"	"DNA"	""	""
"0000323165"	"00321976"	"1"	"00085"	"00085"	"2008-03-12 13:59:36"	"00085"	"2013-04-24 16:49:07"	"SEQ"	"DNA"	""	""
"0000323166"	"00321977"	"1"	"00085"	"00085"	"2008-03-12 14:03:30"	"00085"	"2013-04-24 10:19:03"	"SEQ"	"DNA"	""	""
"0000323167"	"00321978"	"1"	"03870"	"03870"	"2009-09-14 15:04:32"	"00085"	"2014-03-20 09:17:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323168"	"00321979"	"1"	"03855"	"03855"	"2009-12-29 14:54:37"	""	""	"SEQ"	"DNA"	""	""
"0000323169"	"00321980"	"1"	"03702"	"03702"	"2010-08-11 14:52:50"	"00085"	"2010-08-13 13:09:04"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000323170"	"00321981"	"1"	"00085"	"00085"	"2011-06-24 14:21:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323171"	"00321982"	"1"	"00085"	"00085"	"2011-06-24 14:22:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323172"	"00321983"	"1"	"01819"	"01819"	"2011-09-21 13:31:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323173"	"00321984"	"1"	"01819"	"01819"	"2011-09-21 13:33:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323174"	"00321985"	"1"	"01819"	"01819"	"2011-09-21 13:34:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323175"	"00321986"	"1"	"01819"	"01819"	"2011-09-21 13:35:45"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323176"	"00321987"	"1"	"03865"	"03865"	"2012-06-23 15:51:20"	"00085"	"2013-08-23 13:43:47"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323177"	"00321988"	"1"	"03865"	"03865"	"2012-06-23 15:53:07"	"00085"	"2013-08-23 13:44:09"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323178"	"00321989"	"1"	"03865"	"03865"	"2012-06-23 15:55:48"	"00085"	"2013-08-23 13:45:02"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323179"	"00321990"	"1"	"03865"	"03865"	"2012-06-23 15:57:54"	"00085"	"2013-08-23 13:45:19"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323180"	"00321991"	"1"	"03867"	"03867"	"2013-01-16 08:31:19"	"03701"	"2020-11-18 12:24:37"	"PCR;SEQ"	"DNA;protein"	""	""
"0000323181"	"00321992"	"1"	"03879"	"03879"	"2014-12-04 08:44:08"	"00085"	"2015-08-07 16:25:45"	"PCR;SEQ"	"DNA"	""	""
"0000323182"	"00321993"	"1"	"03879"	"03879"	"2014-12-05 10:08:24"	"00085"	"2015-08-07 16:25:06"	"PCR;SEQ"	"DNA"	""	""
"0000323183"	"00321994"	"1"	"00085"	"00085"	"2015-12-09 16:44:13"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323184"	"00321995"	"1"	"00085"	"00085"	"2018-01-18 13:20:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323185"	"00321996"	"1"	"00085"	"00085"	"2018-01-18 13:38:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323186"	"00321997"	"1"	"00085"	"00085"	"2018-01-18 15:04:55"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323187"	"00321998"	"1"	"00085"	"00085"	"2018-03-23 12:54:01"	""	""	"SEQ"	"DNA"	""	""
"0000323188"	"00321999"	"1"	"03894"	"03894"	"2018-09-25 14:30:03"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323189"	"00322000"	"1"	"03894"	"03894"	"2018-09-25 14:35:01"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323190"	"00322001"	"1"	"03894"	"03894"	"2018-09-26 12:23:44"	"03894"	"2018-09-28 08:16:16"	"PCR;SEQ"	"DNA"	""	""
"0000323191"	"00322002"	"1"	"03894"	"03894"	"2018-09-27 10:09:48"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000323192"	"00322003"	"1"	"03894"	"03894"	"2018-09-27 12:07:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323193"	"00322004"	"1"	"03894"	"03894"	"2018-09-27 12:24:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323194"	"00322005"	"1"	"03894"	"03894"	"2018-09-27 13:27:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323195"	"00322006"	"1"	"03894"	"03894"	"2018-09-27 14:05:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323196"	"00322007"	"1"	"00085"	"00085"	"2019-08-15 15:26:01"	"00085"	"2019-08-28 13:56:50"	"SEQ-NG"	"DNA"	""	""
"0000323199"	"00322010"	"1"	"03897"	"03897"	"2020-04-11 16:31:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323200"	"00322011"	"1"	"03704"	"00085"	"2008-03-11 11:14:42"	"00085"	"2011-02-18 09:38:04"	"?"	"?"	""	""
"0000323201"	"00322012"	"1"	"03704"	"00085"	"2011-03-30 12:51:19"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323202"	"00322013"	"1"	"00085"	"00085"	"2008-03-12 14:18:32"	"00085"	"2009-12-01 14:59:49"	"SEQ"	"DNA"	""	""
"0000323203"	"00322014"	"1"	"03704"	"00085"	"2009-02-13 14:52:45"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323204"	"00322015"	"1"	"00085"	"00085"	"2008-03-11 11:16:32"	"00085"	"2009-12-01 14:59:35"	"?"	"?"	""	""
"0000323205"	"00322016"	"1"	"00475"	"00475"	"2010-01-14 17:17:23"	""	""	"SEQ"	"DNA"	""	""
"0000323206"	"00322017"	"1"	"03704"	"00085"	"2011-02-17 15:44:35"	"00085"	"2011-02-18 08:29:06"	"PCR;SEQ"	"DNA"	""	""
"0000323207"	"00322018"	"1"	"00085"	"00085"	"2008-03-12 14:22:40"	"00085"	"2013-04-24 10:32:39"	"SEQ"	"DNA"	""	""
"0000323208"	"00322019"	"1"	"03702"	"03702"	"2008-09-03 21:46:18"	"00085"	"2014-03-20 09:42:17"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000323209"	"00322020"	"1"	"00085"	"00085"	"2014-02-05 09:41:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323210"	"00322021"	"1"	"00085"	"00085"	"2008-03-11 11:27:01"	"00085"	"2009-12-01 16:55:04"	"?"	"?"	""	""
"0000323211"	"00322022"	"1"	"00085"	"00085"	"2008-03-11 11:28:14"	"00085"	"2009-12-01 16:55:14"	"?"	"?"	""	""
"0000323212"	"00322023"	"1"	"00085"	"00085"	"2008-03-12 14:28:07"	"00085"	"2009-12-01 16:55:25"	"SEQ"	"DNA"	""	""
"0000323213"	"00322024"	"1"	"01819"	"01819"	"2011-09-21 13:37:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323214"	"00322025"	"1"	"00085"	"00085"	"2008-03-11 11:31:10"	"00085"	"2009-12-01 16:54:47"	"?"	"?"	""	""
"0000323215"	"00322026"	"1"	"00085"	"00085"	"2008-03-11 11:32:56"	"00085"	"2009-12-01 14:59:03"	"?"	"?"	""	""
"0000323216"	"00322027"	"1"	"03704"	"00085"	"2009-02-25 12:41:29"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323217"	"00322028"	"1"	"03704"	"00085"	"2008-05-21 11:23:18"	"00085"	"2013-04-24 10:47:46"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000323218"	"00322029"	"1"	"00085"	"00085"	"2008-03-11 11:34:33"	"00085"	"2009-12-01 14:58:36"	"?"	"?"	""	""
"0000323219"	"00322030"	"1"	"00085"	"00085"	"2008-03-12 13:45:43"	"00085"	"2014-03-19 14:29:29"	"SEQ;SSCA"	"DNA"	""	""
"0000323220"	"00322031"	"1"	"03879"	"03879"	"2014-12-05 10:05:45"	"00085"	"2015-08-07 16:24:24"	"PCR;SEQ"	"DNA"	""	""
"0000323221"	"00322032"	"1"	"03870"	"03870"	"2014-06-04 15:18:23"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323222"	"00322033"	"1"	"00085"	"00085"	"2008-03-11 11:41:25"	"00085"	"2009-12-01 14:58:22"	"?"	"?"	""	""
"0000323223"	"00322034"	"1"	"00085"	"00085"	"2017-04-25 14:53:44"	"00085"	"2017-04-25 14:56:25"	"PCR;SEQ"	"DNA"	""	""
"0000323224"	"00322035"	"1"	"03704"	"00085"	"2008-05-22 11:42:11"	"00085"	"2013-04-24 10:47:46"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000323225"	"00322036"	"1"	"00085"	"00085"	"2008-05-16 16:37:52"	"00085"	"2013-04-24 10:51:22"	"CSGE;RT-PCR;SEQ"	"RNA"	""	""
"0000323226"	"00322037"	"1"	"03855"	"03855"	"2009-12-29 14:55:24"	""	""	"SEQ"	"DNA"	""	""
"0000323227"	"00322038"	"1"	"03870"	"03870"	"2011-07-18 13:46:41"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323228"	"00322039"	"1"	"00085"	"00085"	"2015-12-10 08:30:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323229"	"00322040"	"1"	"00085"	"00085"	"2018-01-18 15:45:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323230"	"00322041"	"1"	"00085"	"00085"	"2019-09-04 11:17:20"	""	""	"SEQ"	"DNA"	""	""
"0000323231"	"00322042"	"1"	"03897"	"03897"	"2020-04-11 09:48:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323232"	"00322043"	"1"	"03704"	"00085"	"2008-03-11 11:42:43"	"00085"	"2009-12-01 14:57:35"	"?"	"?"	""	""
"0000323233"	"00322044"	"1"	"03704"	"00085"	"2008-03-12 14:50:00"	"00085"	"2013-04-24 10:03:47"	"SEQ;SSCA"	"RNA"	""	""
"0000323234"	"00322045"	"1"	"03879"	"03879"	"2014-12-04 09:54:44"	"00085"	"2015-08-07 16:23:26"	"PCR;SEQ"	"DNA"	""	""
"0000323235"	"00322046"	"1"	"03879"	"03879"	"2014-12-08 10:46:06"	"00085"	"2015-08-07 16:22:36"	"PCR;SEQ"	"DNA"	""	""
"0000323236"	"00322047"	"1"	"03879"	"03879"	"2014-12-08 10:47:34"	"00085"	"2015-08-07 16:21:27"	"PCR;SEQ"	"DNA"	""	""
"0000323237"	"00322048"	"1"	"03704"	"00085"	"2008-03-11 11:44:06"	"00085"	"2009-12-01 14:57:17"	"?"	"?"	""	""
"0000323238"	"00322049"	"1"	"03704"	"00085"	"2008-03-11 11:45:23"	"00085"	"2009-12-01 14:56:41"	"?"	"?"	""	""
"0000323239"	"00322050"	"1"	"00085"	"00085"	"2008-03-12 14:56:03"	"00085"	"2009-12-01 14:56:59"	"SEQ"	"RNA"	""	""
"0000323240"	"00322051"	"1"	"03704"	"00085"	"2011-02-18 08:15:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323241"	"00322052"	"1"	"00085"	"00085"	"2017-03-16 13:28:07"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323242"	"00322053"	"1"	"03704"	"00085"	"2009-02-13 15:01:38"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323243"	"00322054"	"1"	"03704"	"00085"	"2009-02-13 15:06:31"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323246"	"00322057"	"1"	"03879"	"03879"	"2014-12-08 12:20:40"	"00085"	"2015-08-07 16:20:03"	"PCR;SEQ"	"DNA"	""	""
"0000323247"	"00322058"	"1"	"03870"	"03870"	"2010-04-19 15:34:51"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323248"	"00322059"	"1"	"03879"	"03879"	"2014-12-03 10:30:43"	"00085"	"2015-08-07 16:19:00"	"PCR"	"DNA"	""	""
"0000323249"	"00322060"	"1"	"00085"	"00085"	"2008-05-21 10:48:06"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323250"	"00322061"	"1"	"03704"	"00085"	"2008-03-11 11:46:44"	"00085"	"2011-03-30 12:53:25"	"?"	"?"	""	""
"0000323251"	"00322062"	"1"	"03704"	"00085"	"2008-03-12 15:00:28"	"00085"	"2014-03-19 14:30:29"	"?"	"?"	""	""
"0000323252"	"00322063"	"1"	"03855"	"03855"	"2009-12-29 14:53:50"	"00085"	"2010-08-09 10:46:49"	"SEQ"	"DNA"	""	""
"0000323253"	"00322064"	"1"	"00085"	"00085"	"2011-06-24 14:28:40"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323254"	"00322065"	"1"	"01819"	"01819"	"2011-09-22 13:37:58"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323255"	"00322066"	"1"	"00085"	"00085"	"2019-09-04 11:19:45"	""	""	"SSCA"	"DNA"	""	""
"0000323256"	"00322067"	"1"	"03855"	"03855"	"2009-12-30 11:04:13"	""	""	"SEQ"	"DNA"	""	""
"0000323257"	"00322068"	"1"	"00085"	"00085"	"2008-07-31 13:43:31"	"00085"	"2009-12-01 14:55:59"	"?"	"?"	""	""
"0000323258"	"00322069"	"1"	"00085"	"00085"	"2008-07-31 13:47:43"	"00085"	"2013-04-24 09:39:03"	"?"	"?"	""	""
"0000323259"	"00322070"	"1"	"00085"	"00085"	"2019-08-15 15:59:18"	"00085"	"2019-08-28 15:51:31"	"SEQ-NG"	"DNA"	""	""
"0000323260"	"00322071"	"1"	"00085"	"00085"	"2008-03-11 11:48:12"	"00085"	"2009-12-01 14:54:51"	"?"	"?"	""	""
"0000323261"	"00322072"	"1"	"00085"	"00085"	"2008-03-11 11:49:52"	"00085"	"2009-12-01 14:55:25"	"?"	"?"	""	""
"0000323262"	"00322073"	"1"	"03894"	"03894"	"2018-09-25 13:03:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323263"	"00322074"	"1"	"03894"	"03894"	"2018-09-25 14:25:24"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323264"	"00322075"	"1"	"03894"	"03894"	"2018-09-27 11:13:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323265"	"00322076"	"1"	"03894"	"03894"	"2018-09-27 11:26:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323267"	"00322078"	"1"	"03897"	"03897"	"2020-04-11 16:33:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323268"	"00322079"	"1"	"01819"	"01819"	"2011-09-21 13:39:41"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323269"	"00322080"	"1"	"03885"	"03885"	"2016-10-04 16:19:32"	"00085"	"2017-03-13 16:38:00"	"SEQ"	"DNA"	""	""
"0000323270"	"00322081"	"1"	"03855"	"03855"	"2009-12-29 15:06:59"	""	""	"SEQ"	"DNA"	""	""
"0000323271"	"00322082"	"1"	"03894"	"03894"	"2018-09-27 10:28:51"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000323272"	"00322083"	"1"	"03704"	"00085"	"2009-02-13 15:42:54"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323273"	"00322084"	"1"	"03704"	"00085"	"2008-05-21 11:02:22"	"00085"	"2013-03-26 09:43:57"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323274"	"00322085"	"1"	"01819"	"01819"	"2011-09-22 13:45:15"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323275"	"00322086"	"1"	"03704"	"00085"	"2008-03-11 11:51:26"	"00085"	"2009-12-01 14:54:08"	"?"	"?"	""	""
"0000323276"	"00322087"	"1"	"03853"	"03853"	"2009-02-06 13:17:31"	"00085"	"2014-03-20 09:19:49"	"SEQ"	"DNA"	""	""
"0000323277"	"00322088"	"1"	"03856"	"03856"	"2009-10-13 15:27:21"	"00085"	"2014-03-20 09:20:26"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323278"	"00322089"	"1"	"03855"	"03855"	"2009-12-29 15:13:47"	""	""	"SEQ"	"DNA"	""	""
"0000323279"	"00322090"	"1"	"03865"	"03865"	"2012-06-23 16:00:02"	"00085"	"2013-08-23 13:45:46"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323280"	"00322091"	"1"	"03865"	"03865"	"2012-06-23 16:01:38"	"00085"	"2013-08-23 13:46:30"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323281"	"00322092"	"1"	"03865"	"03865"	"2013-08-22 09:48:02"	""	""	"MS;PCR;SEQ"	"DNA"	""	""
"0000323282"	"00322093"	"1"	"00085"	"00085"	"2016-02-16 13:34:20"	"00085"	"2016-02-16 13:45:12"	"PCR;SEQ;arraySEQ"	"DNA"	""	""
"0000323283"	"00322094"	"1"	"03894"	"03894"	"2018-09-25 12:43:54"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323285"	"00322096"	"1"	"00085"	"00085"	"2008-03-11 11:53:02"	"00085"	"2009-12-01 14:53:55"	"?"	"?"	""	""
"0000323286"	"00322097"	"1"	"01819"	"01819"	"2011-09-21 13:41:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323287"	"00322098"	"1"	"03855"	"03855"	"2009-12-29 15:12:01"	""	""	"SEQ"	"DNA"	""	""
"0000323288"	"00322099"	"1"	"03704"	"00085"	"2011-02-18 08:19:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323289"	"00322100"	"1"	"03870"	"03870"	"2010-07-30 10:49:48"	"00085"	"2013-04-22 11:09:01"	"DHPLC;SEQ"	"DNA"	""	""
"0000323290"	"00322101"	"1"	"03704"	"00085"	"2008-03-11 11:57:00"	"00085"	"2009-12-01 16:42:37"	"?"	"?"	""	""
"0000323291"	"00322102"	"1"	"00085"	"00085"	"2008-03-11 11:58:09"	"00085"	"2009-12-01 16:42:48"	"?"	"?"	""	""
"0000323292"	"00322103"	"1"	"00085"	"00085"	"2008-03-11 11:59:46"	"00085"	"2009-12-01 16:43:01"	"?"	"?"	""	""
"0000323293"	"00322104"	"1"	"00085"	"00085"	"2008-03-11 12:01:26"	"00085"	"2009-12-01 16:43:13"	"?"	"?"	""	""
"0000323294"	"00322105"	"1"	"00085"	"00085"	"2008-03-12 15:25:53"	"00085"	"2009-12-01 16:43:27"	"?"	"?"	""	""
"0000323295"	"00322106"	"1"	"00085"	"00085"	"2008-03-12 15:34:34"	"00085"	"2009-12-01 16:43:40"	"SEQ"	"RNA"	""	""
"0000323296"	"00322107"	"1"	"00085"	"00085"	"2008-08-04 09:08:32"	"00085"	"2013-04-24 10:09:21"	"EMC;PCR;SEQ"	"DNA"	""	""
"0000323297"	"00322108"	"1"	"03853"	"03853"	"2009-02-06 13:16:07"	"00085"	"2014-03-20 09:21:10"	"SEQ"	"DNA"	""	""
"0000323298"	"00322109"	"1"	"03855"	"03855"	"2009-12-29 15:12:57"	""	""	"SEQ"	"DNA"	""	""
"0000323299"	"00322110"	"1"	"03879"	"03879"	"2014-12-05 14:56:05"	"00085"	"2015-08-07 16:18:29"	"PCR;SEQ"	"DNA"	""	""
"0000323300"	"00322111"	"1"	"00085"	"00085"	"2018-01-18 16:03:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323302"	"00322113"	"1"	"00085"	"00085"	"2019-08-14 15:23:04"	""	""	"SEQ"	"DNA"	""	""
"0000323303"	"00322114"	"1"	"03704"	"00085"	"2008-03-11 11:54:02"	"00085"	"2009-12-01 16:44:22"	"?"	"?"	""	""
"0000323304"	"00322115"	"1"	"03704"	"00085"	"2008-03-11 11:54:56"	"00085"	"2009-12-01 16:44:36"	"?"	"?"	""	""
"0000323305"	"00322116"	"1"	"03704"	"00085"	"2008-03-11 11:55:46"	"00085"	"2009-12-01 16:44:46"	"?"	"?"	""	""
"0000323306"	"00322117"	"1"	"00085"	"00085"	"2008-03-12 15:18:21"	"00085"	"2013-04-24 10:51:22"	"CSGE;SEQ"	"RNA"	""	""
"0000323307"	"00322118"	"1"	"03704"	"00085"	"2009-02-13 15:10:51"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323308"	"00322119"	"1"	"01819"	"01819"	"2011-09-21 13:43:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323309"	"00322120"	"1"	"00085"	"00085"	"2008-03-12 15:42:14"	"00085"	"2009-12-01 14:53:40"	"SEQ"	"RNA"	""	""
"0000323310"	"00322121"	"1"	"03870"	"03870"	"2008-10-22 14:39:06"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323311"	"00322122"	"1"	"00085"	"00085"	"2014-08-05 13:54:06"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000323312"	"00322123"	"1"	"00085"	"00085"	"2018-08-02 16:40:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323313"	"00322124"	"1"	"00085"	"00085"	"2018-08-02 16:41:56"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323314"	"00322125"	"1"	"03870"	"03870"	"2011-03-11 14:53:13"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323315"	"00322126"	"1"	"03870"	"03870"	"2017-03-21 15:32:40"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323316"	"00322127"	"1"	"00085"	"00085"	"2008-05-22 13:19:56"	"00085"	"2013-08-21 13:14:24"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000323317"	"00322128"	"1"	"03870"	"03870"	"2017-03-21 15:35:11"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323318"	"00322129"	"1"	"03894"	"03894"	"2018-09-27 08:43:24"	"00006"	"2021-10-30 11:53:32"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000323319"	"00322130"	"1"	"03897"	"03897"	"2020-04-11 11:34:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323320"	"00322131"	"1"	"03853"	"03853"	"2009-10-06 13:18:43"	"00085"	"2009-10-20 10:58:48"	"SEQ"	"DNA"	""	""
"0000323321"	"00322132"	"1"	"03885"	"03885"	"2016-10-04 16:23:13"	"00085"	"2017-03-13 16:39:51"	"SEQ-NG"	"DNA"	""	""
"0000323322"	"00322133"	"1"	"00085"	"00085"	"2014-08-05 16:15:03"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000323323"	"00322134"	"1"	"03704"	"00085"	"2008-03-11 12:03:10"	"00085"	"2009-12-01 14:53:01"	"?"	"?"	""	""
"0000323324"	"00322135"	"1"	"03704"	"00085"	"2008-03-11 12:04:22"	"00085"	"2009-12-01 14:52:47"	"?"	"?"	""	""
"0000323325"	"00322136"	"1"	"03861"	"03861"	"2012-03-30 13:11:56"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323326"	"00322137"	"1"	"01819"	"01819"	"2011-09-21 13:46:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323327"	"00322138"	"1"	"00085"	"00085"	"2008-03-12 16:10:52"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323328"	"00322139"	"1"	"03855"	"03855"	"2009-12-29 15:14:39"	""	""	"SEQ"	"DNA"	""	""
"0000323329"	"00322140"	"1"	"03855"	"03855"	"2009-12-29 15:15:19"	""	""	"SEQ"	"DNA"	""	""
"0000323330"	"00322141"	"1"	"03855"	"03855"	"2009-12-30 10:54:50"	"00085"	"2010-03-31 15:14:26"	"SEQ"	"DNA"	""	""
"0000323331"	"00322142"	"1"	"00085"	"00085"	"2011-06-24 14:42:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323332"	"00322143"	"1"	"03870"	"03870"	"2011-07-18 13:43:04"	"00085"	"2013-04-22 11:10:00"	"DHPLC;SEQ"	"DNA"	""	""
"0000323333"	"00322144"	"1"	"00085"	"00085"	"2011-11-02 10:28:04"	"00085"	"2011-11-02 10:28:20"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323334"	"00322145"	"1"	"03872"	"03872"	"2014-11-02 13:28:22"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323335"	"00322146"	"1"	"00085"	"00085"	"2015-12-10 08:32:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323336"	"00322147"	"1"	"03894"	"03894"	"2018-09-26 12:47:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323337"	"00322148"	"1"	"00085"	"00085"	"2014-08-05 14:20:54"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000323338"	"00322149"	"1"	"00085"	"00085"	"2008-05-22 11:48:52"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323339"	"00322150"	"1"	"03704"	"00085"	"2009-02-13 15:26:57"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323340"	"00322151"	"1"	"03704"	"00085"	"2009-02-13 15:28:57"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323341"	"00322152"	"1"	"03704"	"00085"	"2008-03-11 12:05:54"	"00085"	"2009-12-01 14:52:10"	"?"	"?"	""	""
"0000323342"	"00322153"	"1"	"00085"	"00085"	"2008-07-31 14:00:20"	"00085"	"2013-04-24 10:19:03"	"PCR;SEQ"	"DNA"	""	""
"0000323343"	"00322154"	"1"	"01819"	"01819"	"2011-09-22 13:46:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323344"	"00322155"	"1"	"03861"	"03861"	"2013-05-22 11:10:36"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323345"	"00322156"	"1"	"03879"	"03879"	"2014-12-09 13:08:35"	"00085"	"2015-08-07 16:17:45"	"PCR;SEQ"	"DNA"	""	""
"0000323346"	"00322157"	"1"	"01819"	"01819"	"2011-09-22 13:48:07"	"00085"	"2012-02-01 10:07:10"	"PCR;SEQ"	"DNA"	""	""
"0000323347"	"00322158"	"1"	"01819"	"01819"	"2011-09-22 13:49:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323348"	"00322159"	"1"	"03879"	"03879"	"2014-12-03 11:49:12"	"00085"	"2015-08-07 16:16:48"	"PCR;SEQ"	"DNA"	""	""
"0000323349"	"00322160"	"1"	"03856"	"03856"	"2009-09-25 11:19:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323350"	"00322161"	"1"	"03870"	"03870"	"2010-09-02 11:38:47"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323351"	"00322162"	"1"	"03704"	"00085"	"2009-02-25 13:12:57"	"00085"	"2012-07-31 15:17:00"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323352"	"00322163"	"1"	"03885"	"03885"	"2016-10-04 17:41:53"	""	""	"SEQ"	"DNA"	""	""
"0000323353"	"00322164"	"1"	"00085"	"00085"	"2008-04-07 15:12:41"	"00085"	"2013-04-24 10:53:30"	"PCR;SEQ"	"DNA"	""	""
"0000323354"	"00322165"	"1"	"00085"	"00085"	"2008-05-22 13:03:20"	"00085"	"2012-07-10 15:15:57"	"CSGE;RT-PCR;SEQ"	"RNA"	""	""
"0000323355"	"00322166"	"1"	"03885"	"03885"	"2016-10-04 16:25:49"	""	""	"SEQ"	"DNA"	""	""
"0000323356"	"00322167"	"1"	"03870"	"03870"	"2017-03-21 15:37:01"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323357"	"00322168"	"1"	"03870"	"03870"	"2017-03-21 15:38:08"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323358"	"00322169"	"1"	"03704"	"00085"	"2008-03-11 12:06:59"	"00085"	"2009-12-01 14:50:59"	"?"	"?"	""	""
"0000323359"	"00322170"	"1"	"03704"	"00085"	"2008-03-12 16:13:52"	"00085"	"2013-04-24 10:38:26"	"SEQ"	"protein"	""	""
"0000323360"	"00322171"	"1"	"03704"	"00085"	"2009-02-13 15:35:36"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323361"	"00322172"	"1"	"03894"	"03894"	"2018-09-27 12:26:59"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323362"	"00322173"	"1"	"03855"	"03855"	"2009-12-29 15:19:43"	"00085"	"2016-08-23 10:36:17"	"SEQ"	"DNA"	""	""
"0000323363"	"00322174"	"1"	"03704"	"00085"	"2008-05-22 13:13:40"	"00085"	"2013-04-24 10:41:34"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323364"	"00322175"	"1"	"00085"	"00085"	"2014-04-02 09:54:57"	"00085"	"2014-04-02 09:55:43"	"PCR;SEQ"	"DNA"	""	""
"0000323365"	"00322176"	"1"	"00085"	"00085"	"2019-09-04 11:56:16"	"00085"	"2019-09-11 15:11:53"	"SSCA"	"DNA"	""	""
"0000323366"	"00322177"	"1"	"03704"	"00085"	"2008-03-11 12:38:57"	"00085"	"2009-12-01 14:50:45"	"?"	"?"	""	""
"0000323367"	"00322178"	"1"	"03855"	"03855"	"2009-12-29 15:18:05"	""	""	"SEQ"	"DNA"	""	""
"0000323368"	"00322179"	"1"	"03872"	"03872"	"2015-04-16 21:18:53"	""	""	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323369"	"00322180"	"1"	"00085"	"00085"	"2015-12-10 08:36:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323370"	"00322181"	"1"	"03894"	"03894"	"2018-09-27 11:56:18"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323372"	"00322183"	"1"	"00085"	"00085"	"2008-03-12 16:56:36"	"00085"	"2014-03-19 14:31:36"	"SEQ"	"RNA"	""	""
"0000323373"	"00322184"	"1"	"00085"	"00085"	"2008-04-07 15:38:31"	"00085"	"2013-04-24 10:53:30"	"PCR;SEQ"	"DNA"	""	""
"0000323374"	"00322185"	"1"	"00085"	"00085"	"2008-05-22 13:35:07"	"00085"	"2013-04-24 10:51:22"	"CSGE;RT-PCR;SEQ"	"RNA"	""	""
"0000323375"	"00322186"	"1"	"03855"	"03855"	"2009-12-29 15:16:00"	""	""	"SEQ"	"DNA"	""	""
"0000323376"	"00322187"	"1"	"03894"	"03894"	"2018-09-27 11:51:45"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323377"	"00322188"	"1"	"03894"	"03894"	"2018-09-27 12:59:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323378"	"00322189"	"1"	"01819"	"01819"	"2011-09-21 13:48:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323379"	"00322190"	"1"	"03882"	"00085"	"2016-06-03 08:53:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323380"	"00322191"	"1"	"03897"	"03897"	"2020-04-11 10:08:02"	"03897"	"2020-04-11 16:51:42"	"PCR;SEQ"	"DNA"	""	""
"0000323381"	"00322192"	"1"	"00085"	"00085"	"2008-07-31 13:54:56"	"00085"	"2009-12-01 14:49:45"	"?"	"?"	""	""
"0000323382"	"00322193"	"1"	"03870"	"03870"	"2017-03-21 15:39:06"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323383"	"00322194"	"1"	"03870"	"03870"	"2017-03-21 15:39:53"	""	""	"SEQ"	"DNA"	""	""
"0000323384"	"00322195"	"1"	"03894"	"03894"	"2018-09-26 13:50:35"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323385"	"00322196"	"1"	"00085"	"00085"	"2008-07-31 14:16:36"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323386"	"00322197"	"1"	"01819"	"01819"	"2011-09-22 13:51:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323387"	"00322198"	"1"	"01819"	"01819"	"2011-09-22 13:55:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323388"	"00322199"	"1"	"03881"	"03881"	"2015-08-21 09:53:50"	""	""	"SEQ"	"DNA"	""	""
"0000323389"	"00322200"	"1"	"00085"	"00085"	"2018-08-03 09:05:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323390"	"00322201"	"1"	"03704"	"00085"	"2008-03-11 12:40:22"	"00085"	"2009-12-01 14:49:15"	"?"	"?"	""	""
"0000323391"	"00322202"	"1"	"00085"	"00085"	"2008-03-11 12:41:42"	"00085"	"2009-12-01 14:48:50"	"?"	"?"	""	""
"0000323392"	"00322203"	"1"	"03704"	"00085"	"2008-03-11 12:43:01"	"00085"	"2009-12-01 14:48:33"	"?"	"?"	""	""
"0000323393"	"00322204"	"1"	"00085"	"00085"	"2018-08-01 15:13:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323394"	"00322205"	"1"	"00085"	"00085"	"2018-08-01 15:16:44"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323395"	"00322206"	"1"	"00085"	"00085"	"2018-08-01 15:25:09"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323397"	"00322208"	"1"	"03704"	"00085"	"2008-03-13 09:26:30"	"00085"	"2014-03-19 14:32:26"	"DGGE;SEQ"	"DNA"	""	""
"0000323398"	"00322209"	"1"	"03855"	"03855"	"2009-12-29 15:20:33"	""	""	"SEQ"	"DNA"	""	""
"0000323399"	"00322210"	"1"	"03862"	"03862"	"2011-02-03 08:09:17"	"00085"	"2012-08-01 11:45:48"	"SEQ"	"DNA"	""	""
"0000323400"	"00322211"	"1"	"03878"	"03878"	"2014-10-22 14:26:39"	"00085"	"2014-10-24 09:15:26"	"SEQ"	"DNA"	""	""
"0000323401"	"00322212"	"1"	"03870"	"03870"	"2017-03-21 15:43:32"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323402"	"00322213"	"1"	"00085"	"00085"	"2008-03-13 09:36:55"	"00085"	"2014-03-19 14:34:33"	"SEQ"	"RNA"	""	""
"0000323404"	"00322215"	"1"	"03872"	"03872"	"2014-07-03 16:45:19"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323405"	"00322216"	"1"	"03879"	"03879"	"2014-12-03 11:24:02"	"00085"	"2015-08-07 16:16:07"	"PCR"	"DNA"	""	""
"0000323406"	"00322217"	"1"	"00085"	"00085"	"2008-03-11 12:44:17"	"00085"	"2009-12-01 14:47:50"	"?"	"?"	""	""
"0000323407"	"00322218"	"1"	"03894"	"03894"	"2018-09-27 12:23:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323408"	"00322219"	"1"	"00475"	"00475"	"2010-01-14 17:20:34"	""	""	"SEQ"	"DNA"	""	""
"0000323409"	"00322220"	"1"	"00085"	"00085"	"2008-03-11 12:48:51"	"00085"	"2009-12-01 14:47:28"	"?"	"?"	""	""
"0000323410"	"00322221"	"1"	"00085"	"00085"	"2009-04-21 11:15:05"	"00085"	"2013-03-18 15:55:21"	"PCR;SEQ"	"DNA"	""	""
"0000323411"	"00322222"	"1"	"01819"	"01819"	"2011-09-21 13:50:09"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323412"	"00322223"	"1"	"01819"	"01819"	"2011-09-21 13:51:17"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323413"	"00322224"	"1"	"03870"	"03870"	"2017-03-21 15:44:36"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323414"	"00322225"	"1"	"03704"	"00085"	"2009-02-13 15:46:02"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323415"	"00322226"	"1"	"03879"	"03879"	"2014-12-05 15:49:51"	"00085"	"2015-08-07 16:15:27"	"PCR;SEQ"	"DNA"	""	""
"0000323416"	"00322227"	"1"	"03879"	"03879"	"2014-12-05 15:52:41"	"00085"	"2015-08-07 16:14:54"	"PCR;SEQ"	"DNA"	""	""
"0000323417"	"00322228"	"1"	"03870"	"03870"	"2017-03-21 15:45:57"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323418"	"00322229"	"1"	"01819"	"01819"	"2011-09-22 13:56:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323419"	"00322230"	"1"	"00085"	"00085"	"2008-07-31 14:36:21"	"00085"	"2014-03-20 11:26:03"	"PCR;RT-PCR;SEQ;CSGE"	"DNA;RNA"	""	""
"0000323420"	"00322231"	"1"	"03894"	"03894"	"2019-10-14 02:53:21"	"00006"	"2021-10-30 11:40:39"	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000323421"	"00322232"	"1"	"00085"	"00085"	"2008-03-13 10:50:38"	"00085"	"2009-12-01 14:46:53"	"CMC;SEQ"	"RNA"	""	""
"0000323422"	"00322233"	"1"	"03870"	"03870"	"2009-05-08 10:53:04"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323423"	"00322234"	"1"	"00085"	"00085"	"2017-09-26 13:41:27"	""	""	"SEQ"	"DNA"	""	""
"0000323424"	"00322235"	"1"	"03882"	"00085"	"2016-06-03 08:46:26"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323425"	"00322236"	"1"	"00475"	"00475"	"2010-01-14 17:30:43"	""	""	"SEQ"	"DNA"	""	""
"0000323426"	"00322237"	"1"	"03870"	"03870"	"2017-03-23 09:11:34"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323427"	"00322238"	"1"	"03870"	"03870"	"2017-03-23 09:13:05"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323428"	"00322239"	"1"	"03870"	"03870"	"2017-03-23 09:13:56"	""	""	"SEQ"	"DNA"	""	""
"0000323429"	"00322240"	"1"	"00475"	"00475"	"2010-01-14 17:34:09"	""	""	"SEQ"	"DNA"	""	""
"0000323430"	"00322241"	"1"	"03870"	"03870"	"2010-09-27 16:40:51"	"00085"	"2013-04-22 11:10:52"	"DHPLC;SEQ"	"DNA"	""	""
"0000323431"	"00322242"	"1"	"00085"	"00085"	"2011-06-24 15:06:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323432"	"00322243"	"1"	"03870"	"03870"	"2017-03-23 09:18:59"	""	""	"SEQ"	"DNA"	""	""
"0000323433"	"00322244"	"1"	"03704"	"00085"	"2008-03-11 12:50:04"	"00085"	"2009-12-01 14:46:28"	"?"	"?"	""	""
"0000323434"	"00322245"	"1"	"03704"	"00085"	"2009-02-13 15:48:23"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323435"	"00322246"	"1"	"00085"	"00085"	"2008-05-22 13:38:30"	"00085"	"2013-04-24 10:35:25"	"PCR;SEQ"	"DNA"	""	""
"0000323436"	"00322247"	"1"	"00085"	"00085"	"2008-05-22 13:39:38"	"00085"	"2013-04-24 10:35:25"	"PCR;SEQ"	"DNA"	""	""
"0000323437"	"00322248"	"1"	"03855"	"03855"	"2009-12-29 15:22:17"	""	""	"SEQ"	"DNA"	""	""
"0000323438"	"00322249"	"1"	"03870"	"03870"	"2010-12-13 14:53:47"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323439"	"00322250"	"1"	"03879"	"03879"	"2014-12-04 09:09:11"	"00085"	"2015-08-07 16:14:15"	"PCR;SEQ"	"DNA"	""	""
"0000323440"	"00322251"	"1"	"03870"	"03870"	"2017-03-23 09:25:45"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323441"	"00322252"	"1"	"03894"	"03894"	"2018-09-25 12:32:46"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323442"	"00322253"	"1"	"03853"	"03853"	"2008-11-05 17:34:54"	"00085"	"2008-11-21 08:15:57"	"SEQ"	"DNA"	""	""
"0000323443"	"00322254"	"1"	"03855"	"03855"	"2009-12-29 15:23:07"	""	""	"SEQ"	"DNA"	""	""
"0000323444"	"00322255"	"1"	"03870"	"03870"	"2017-03-23 09:26:45"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323445"	"00322256"	"1"	"03853"	"03853"	"2010-05-03 14:08:27"	""	""	"SEQ"	"DNA"	""	""
"0000323446"	"00322257"	"1"	"03879"	"03879"	"2014-12-05 08:59:31"	"00085"	"2015-08-07 16:13:41"	"PCR;SEQ"	"DNA"	""	""
"0000323447"	"00322258"	"1"	"00085"	"00085"	"2009-04-21 12:54:47"	"00085"	"2012-07-10 15:18:44"	"PCR;SEQ"	"DNA"	""	""
"0000323448"	"00322259"	"1"	"00085"	"00085"	"2008-03-13 10:57:08"	"00085"	"2009-12-01 14:45:47"	"NUC;SEQ"	"RNA"	""	""
"0000323449"	"00322260"	"1"	"03855"	"03855"	"2010-01-05 16:15:45"	""	""	"SEQ"	"DNA"	""	""
"0000323450"	"00322261"	"1"	"03870"	"03870"	"2017-03-23 09:29:05"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323451"	"00322262"	"1"	"00085"	"00085"	"2008-03-13 11:08:04"	"00085"	"2013-05-13 13:26:55"	"PCR;SEQ"	"DNA"	""	""
"0000323452"	"00322263"	"1"	"00085"	"00085"	"2008-03-13 11:18:59"	"00085"	"2013-05-13 13:25:41"	"SEQ"	"DNA"	""	""
"0000323453"	"00322264"	"1"	"00085"	"00085"	"2008-06-18 08:35:40"	"00085"	"2013-05-13 13:27:41"	"PCR;SEQ"	"DNA"	""	""
"0000323454"	"00322265"	"1"	"00085"	"00085"	"2008-06-18 08:37:39"	"00085"	"2013-05-13 13:28:30"	"PCR;SEQ"	"DNA"	""	""
"0000323455"	"00322266"	"1"	"00085"	"00085"	"2008-06-18 08:43:39"	"00085"	"2011-06-01 11:55:29"	"PCR;SEQ"	"DNA"	""	""
"0000323456"	"00322267"	"1"	"00085"	"00085"	"2008-08-18 08:43:28"	"00085"	"2013-05-13 13:30:35"	"PCR;SEQ"	"DNA"	""	""
"0000323457"	"00322268"	"1"	"00085"	"00085"	"2008-08-18 08:45:55"	"00085"	"2013-05-13 13:30:35"	"PCR;SEQ"	"DNA"	""	""
"0000323458"	"00322269"	"1"	"00085"	"00085"	"2008-08-18 08:47:16"	"00085"	"2013-05-13 13:30:36"	"PCR;SEQ"	"DNA"	""	""
"0000323459"	"00322270"	"1"	"00085"	"00085"	"2008-08-18 08:48:36"	"00085"	"2013-05-13 13:30:36"	"PCR;SEQ"	"DNA"	""	""
"0000323460"	"00322271"	"1"	"00085"	"00085"	"2008-08-18 08:50:01"	"00085"	"2013-05-13 13:30:36"	"PCR;SEQ"	"DNA"	""	""
"0000323461"	"00322272"	"1"	"03853"	"03853"	"2009-02-06 13:18:51"	"00085"	"2014-03-20 09:22:00"	"SEQ"	"DNA"	""	""
"0000323462"	"00322273"	"1"	"03855"	"03855"	"2009-12-29 15:24:01"	""	""	"SEQ"	"DNA"	""	""
"0000323463"	"00322274"	"1"	"00475"	"00475"	"2010-01-15 13:29:18"	""	""	"SEQ"	"DNA"	""	""
"0000323464"	"00322275"	"1"	"00085"	"00085"	"2011-01-24 09:27:43"	"00085"	"2011-06-01 11:54:42"	"PCR;SEQ"	"DNA"	""	""
"0000323465"	"00322276"	"1"	"00085"	"00085"	"2011-06-01 11:35:28"	"00085"	"2013-05-13 13:31:35"	"PCR;SEQ"	"DNA"	""	""
"0000323466"	"00322277"	"1"	"00085"	"00085"	"2011-10-26 15:04:31"	""	""	"?"	"?"	""	""
"0000323467"	"00322278"	"1"	"03870"	"03870"	"2012-03-02 09:12:13"	"00085"	"2013-04-17 10:00:18"	"SEQ"	"DNA"	""	""
"0000323468"	"00322279"	"1"	"00085"	"00085"	"2013-02-08 14:04:11"	""	""	"SEQ"	"?"	""	""
"0000323469"	"00322280"	"1"	"00085"	"00085"	"2013-05-13 13:36:31"	""	""	"?"	"?"	""	""
"0000323470"	"00322281"	"1"	"00085"	"00085"	"2014-01-07 12:02:26"	"00085"	"2014-01-07 12:04:58"	"PCR;PCRdig"	"DNA"	""	""
"0000323471"	"00322282"	"1"	"00085"	"00085"	"2016-06-02 11:57:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323472"	"00322283"	"1"	"03879"	"03879"	"2014-12-08 13:26:10"	"00085"	"2015-08-07 15:48:08"	"PCR;SEQ"	"DNA"	""	""
"0000323473"	"00322284"	"1"	"03897"	"00085"	"2019-08-28 16:25:26"	"00085"	"2020-03-29 11:56:29"	"SEQ"	"DNA"	""	""
"0000323474"	"00322285"	"1"	"00085"	"00085"	"2011-11-02 10:57:29"	"00085"	"2011-11-02 11:19:12"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323475"	"00322286"	"1"	"00085"	"00085"	"2008-08-01 09:30:31"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323476"	"00322287"	"1"	"00085"	"00085"	"2008-08-01 09:35:02"	"00085"	"2009-12-01 16:26:52"	"?"	"?"	""	""
"0000323477"	"00322288"	"1"	"00085"	"00085"	"2008-08-01 09:33:25"	"00085"	"2013-03-18 15:57:12"	"PCR;SEQ"	"DNA"	""	""
"0000323478"	"00322289"	"1"	"03855"	"03855"	"2009-12-30 11:05:06"	""	""	"SEQ"	"DNA"	""	""
"0000323479"	"00322290"	"1"	"01819"	"01819"	"2011-09-22 13:57:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323480"	"00322291"	"1"	"01819"	"01819"	"2011-09-21 13:53:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323481"	"00322292"	"1"	"00085"	"00085"	"2008-05-22 13:46:34"	"00085"	"2012-10-26 16:24:02"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323482"	"00322293"	"1"	"00085"	"00085"	"2008-03-13 11:23:17"	"00085"	"2012-10-26 16:21:35"	"SEQ"	"RNA"	""	""
"0000323483"	"00322294"	"1"	"00085"	"00085"	"2012-10-26 16:20:01"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323484"	"00322295"	"1"	"00085"	"00085"	"2015-12-10 08:44:23"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323485"	"00322296"	"1"	"03894"	"03894"	"2018-09-27 13:41:21"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323486"	"00322297"	"1"	"00085"	"00085"	"2008-03-11 12:51:36"	"00085"	"2012-10-26 16:25:32"	"?"	"?"	""	""
"0000323487"	"00322298"	"1"	"00085"	"00085"	"2008-03-11 12:52:42"	"00085"	"2009-12-01 16:32:14"	"?"	"?"	""	""
"0000323488"	"00322299"	"1"	"00085"	"00085"	"2008-03-11 12:53:37"	"00085"	"2009-12-01 16:32:25"	"?"	"?"	""	""
"0000323489"	"00322300"	"1"	"00085"	"00085"	"2008-03-13 11:30:55"	"00085"	"2012-07-29 13:03:27"	"DGGE;SEQ"	"DNA"	""	""
"0000323490"	"00322301"	"1"	"03702"	"00085"	"2008-03-13 11:53:26"	"00085"	"2010-08-13 13:10:38"	"PAGE;PCR;RT-PCR;SEQ"	"?"	""	""
"0000323491"	"00322302"	"1"	"03704"	"00085"	"2009-02-13 15:51:27"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323492"	"00322303"	"1"	"03704"	"00085"	"2009-02-13 15:52:47"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323493"	"00322304"	"1"	"03870"	"03870"	"2009-04-15 14:21:55"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323494"	"00322305"	"1"	"01819"	"01819"	"2011-09-21 13:54:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323495"	"00322306"	"1"	"00085"	"00085"	"2019-04-17 13:30:13"	"00085"	"2019-04-17 13:30:24"	"PCR;SEQ"	"DNA"	""	""
"0000323496"	"00322307"	"1"	"03870"	"03870"	"2017-03-23 10:15:27"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323497"	"00322308"	"1"	"03704"	"00085"	"2008-03-11 12:55:09"	"00085"	"2009-12-01 14:42:33"	"?"	"?"	""	""
"0000323498"	"00322309"	"1"	"03704"	"00085"	"2008-03-13 11:39:20"	"00085"	"2014-03-19 14:35:30"	"SEQ"	"RNA"	""	""
"0000323499"	"00322310"	"1"	"03855"	"03855"	"2009-12-29 15:28:19"	""	""	"SEQ"	"DNA"	""	""
"0000323500"	"00322311"	"1"	"03855"	"03855"	"2009-12-29 15:29:18"	""	""	"SEQ"	"DNA"	""	""
"0000323501"	"00322312"	"1"	"00085"	"00085"	"2008-03-13 11:57:14"	"00085"	"2014-03-19 14:36:23"	"DGGE;SEQ"	"DNA"	""	""
"0000323502"	"00322313"	"1"	"03704"	"00085"	"2008-03-13 12:53:56"	"00085"	"2014-03-19 14:37:05"	"DGGE;SEQ"	"DNA"	""	""
"0000323503"	"00322314"	"1"	"03704"	"00085"	"2008-03-13 12:54:43"	"00085"	"2014-03-19 14:37:52"	"DGGE;SEQ"	"DNA"	""	""
"0000323504"	"00322315"	"1"	"00085"	"00085"	"2008-03-13 12:56:49"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323505"	"00322316"	"1"	"00085"	"00085"	"2008-03-13 12:57:49"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323506"	"00322317"	"1"	"03855"	"03855"	"2009-12-29 15:29:55"	""	""	"SEQ"	"DNA"	""	""
"0000323507"	"00322318"	"1"	"03870"	"03870"	"2010-09-27 16:55:57"	"00085"	"2013-04-22 11:12:11"	"DHPLC;SEQ"	"DNA"	""	""
"0000323508"	"00322319"	"1"	"00085"	"00085"	"2011-06-24 15:11:56"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323509"	"00322320"	"1"	"00085"	"00085"	"2011-06-24 15:13:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323510"	"00322321"	"1"	"00085"	"00085"	"2015-04-14 13:40:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323511"	"00322322"	"1"	"00085"	"00085"	"2015-12-10 08:47:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323512"	"00322323"	"1"	"00085"	"00085"	"2016-06-14 10:36:18"	"00085"	"2016-08-12 16:27:59"	"PCR;SEQ"	"DNA"	""	""
"0000323513"	"00322324"	"1"	"00085"	"00085"	"2016-07-26 11:55:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323514"	"00322325"	"1"	"03870"	"03870"	"2017-03-23 12:30:16"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323515"	"00322326"	"1"	"03894"	"03894"	"2018-09-26 13:25:49"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323516"	"00322327"	"1"	"03894"	"03894"	"2018-09-27 14:03:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323518"	"00322329"	"1"	"03897"	"03897"	"2020-04-11 10:40:09"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323519"	"00322330"	"1"	"00085"	"00085"	"2008-05-22 13:51:52"	"00085"	"2009-12-01 14:41:15"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323520"	"00322331"	"1"	"00085"	"00085"	"2008-03-11 12:56:23"	"00085"	"2009-12-01 14:41:03"	"?"	"?"	""	""
"0000323521"	"00322332"	"1"	"00085"	"00085"	"2008-03-13 13:10:24"	"00085"	"2009-12-01 14:40:26"	"SEQ"	"DNA"	""	""
"0000323522"	"00322333"	"1"	"00085"	"00085"	"2011-11-02 10:32:53"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323523"	"00322334"	"1"	"03704"	"00085"	"2008-03-11 12:57:42"	"00085"	"2009-12-01 14:37:29"	"?"	"?"	""	""
"0000323524"	"00322335"	"1"	"03704"	"00085"	"2008-03-11 12:58:35"	"00085"	"2009-12-01 14:37:44"	"?"	"?"	""	""
"0000323525"	"00322336"	"1"	"03704"	"00085"	"2008-03-11 12:59:25"	"00085"	"2009-12-01 14:37:56"	"?"	"?"	""	""
"0000323526"	"00322337"	"1"	"00085"	"00085"	"2008-03-11 14:01:45"	"00085"	"2009-12-01 14:38:11"	"?"	"?"	""	""
"0000323527"	"00322338"	"1"	"00085"	"00085"	"2008-03-11 14:02:35"	"00085"	"2009-12-01 14:38:27"	"?"	"?"	""	""
"0000323528"	"00322339"	"1"	"00085"	"00085"	"2008-03-11 14:03:46"	"00085"	"2009-12-01 14:38:42"	"?"	"?"	""	""
"0000323529"	"00322340"	"1"	"00085"	"00085"	"2008-03-11 14:04:38"	"00085"	"2009-12-01 14:38:56"	"?"	"?"	""	""
"0000323530"	"00322341"	"1"	"00085"	"00085"	"2008-03-13 13:38:00"	"00085"	"2014-03-19 14:38:36"	"SEQ;SSCA"	"RNA"	""	""
"0000323531"	"00322342"	"1"	"00085"	"00085"	"2008-03-13 13:52:52"	"00085"	"2014-03-19 14:39:38"	"SEQ"	"RNA"	""	""
"0000323532"	"00322343"	"1"	"00085"	"00085"	"2008-03-13 13:57:06"	"00085"	"2014-03-19 14:40:57"	"SEQ"	"RNA"	""	""
"0000323533"	"00322344"	"1"	"00085"	"00085"	"2008-03-13 14:04:05"	"00085"	"2009-12-01 14:39:47"	"SEQ"	"RNA"	""	""
"0000323534"	"00322345"	"1"	"00085"	"00085"	"2008-03-13 14:09:51"	"00085"	"2009-12-01 14:40:00"	"?"	"?"	""	""
"0000323535"	"00322346"	"1"	"00085"	"00085"	"2008-08-04 09:09:56"	"00085"	"2013-04-24 10:09:21"	"EMC;PCR;SEQ"	"DNA"	""	""
"0000323536"	"00322347"	"1"	"03870"	"03870"	"2011-03-11 14:40:09"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323537"	"00322348"	"1"	"01819"	"01819"	"2011-09-21 13:59:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323538"	"00322349"	"1"	"00085"	"00085"	"2013-03-04 11:42:09"	""	""	"SEQ"	"DNA"	""	""
"0000323539"	"00322350"	"1"	"03879"	"03879"	"2014-12-04 10:22:18"	"00085"	"2015-08-07 15:45:59"	"PCR;SEQ"	"DNA"	""	""
"0000323540"	"00322351"	"1"	"03879"	"03879"	"2014-12-08 11:36:59"	"00085"	"2015-08-07 15:44:49"	"PCR;SEQ"	"DNA"	""	""
"0000323541"	"00322352"	"1"	"01819"	"01819"	"2016-11-28 11:51:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323542"	"00322353"	"1"	"03894"	"03894"	"2018-09-27 11:54:53"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323544"	"00322355"	"1"	"01819"	"01819"	"2011-09-21 13:56:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323545"	"00322356"	"1"	"00085"	"00085"	"2015-12-10 08:50:37"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323546"	"00322357"	"1"	"03704"	"00085"	"2008-05-22 16:12:53"	"00085"	"2013-04-24 10:41:34"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323547"	"00322358"	"1"	"03704"	"00085"	"2008-05-22 16:18:45"	"00085"	"2013-04-24 10:41:34"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323548"	"00322359"	"1"	"00085"	"00085"	"2018-05-31 09:54:01"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000323549"	"00322360"	"1"	"03885"	"03885"	"2016-10-04 17:44:34"	""	""	"SEQ"	"DNA"	""	""
"0000323550"	"00322361"	"1"	"03704"	"00085"	"2008-03-11 14:06:35"	"00085"	"2009-12-01 16:23:36"	"?"	"?"	""	""
"0000323551"	"00322362"	"1"	"00085"	"00085"	"2009-07-01 15:09:32"	"00085"	"2014-03-19 14:41:53"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000323552"	"00322363"	"1"	"00475"	"00475"	"2009-12-23 23:53:10"	""	""	"SEQ"	"DNA"	""	""
"0000323553"	"00322364"	"1"	"00475"	"00475"	"2010-01-15 13:31:08"	""	""	"SEQ"	"DNA"	""	""
"0000323554"	"00322365"	"1"	"03704"	"00085"	"2008-03-11 14:07:44"	"00085"	"2009-12-01 16:24:01"	"?"	"?"	""	""
"0000323555"	"00322366"	"1"	"00085"	"00085"	"2008-03-13 14:18:42"	"00085"	"2013-04-24 10:43:52"	"SEQ"	"DNA"	""	""
"0000323556"	"00322367"	"1"	"00085"	"00085"	"2014-08-05 15:40:58"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000323557"	"00322368"	"1"	"00085"	"00085"	"2008-03-13 14:21:40"	"00085"	"2009-12-01 16:38:20"	"SEQ"	"RNA"	""	""
"0000323558"	"00322369"	"1"	"00085"	"00085"	"2008-05-22 16:28:32"	"00085"	"2013-03-18 15:45:03"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323559"	"00322370"	"1"	"01819"	"01819"	"2011-09-22 14:00:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323560"	"00322371"	"1"	"03704"	"00085"	"2009-02-24 16:27:48"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323561"	"00322372"	"1"	"00085"	"00085"	"2008-05-23 16:43:33"	"00085"	"2011-04-08 14:09:09"	"NUC;RT-PCR;SEQ"	"RNA"	""	""
"0000323562"	"00322373"	"1"	"03855"	"03855"	"2009-12-29 15:44:13"	"00085"	"2010-03-31 15:51:44"	"SEQ"	"DNA"	""	""
"0000323563"	"00322374"	"1"	"03704"	"00085"	"2011-03-30 13:24:53"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323564"	"00322375"	"1"	"00085"	"00085"	"2012-08-08 10:27:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323565"	"00322376"	"1"	"00085"	"00085"	"2017-06-16 08:01:20"	""	""	"PAGE;PCR;SEQ"	"DNA;protein"	""	""
"0000323566"	"00322377"	"1"	"03704"	"00085"	"2008-05-22 16:46:15"	"00085"	"2013-04-24 10:41:34"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323567"	"00322378"	"1"	"00085"	"00085"	"2008-05-22 16:51:47"	"00085"	"2014-02-03 10:46:51"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323568"	"00322379"	"1"	"03704"	"00085"	"2011-02-18 08:38:27"	"00085"	"2011-02-18 08:39:31"	"PCR;SEQ"	"DNA"	""	""
"0000323569"	"00322380"	"1"	"03888"	"00085"	"2017-10-13 08:45:13"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323570"	"00322381"	"1"	"03704"	"00085"	"2008-03-11 14:09:05"	"00085"	"2009-12-01 14:37:15"	"?"	"?"	""	""
"0000323571"	"00322382"	"1"	"03890"	"03890"	"2018-04-26 11:42:47"	"03890"	"2018-04-28 08:26:08"	"SEQ-NG"	"DNA"	""	""
"0000323572"	"00322383"	"1"	"03704"	"00085"	"2008-06-05 11:53:40"	"00085"	"2012-12-10 09:59:58"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323573"	"00322384"	"1"	"03867"	"03867"	"2012-12-10 08:53:34"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323574"	"00322385"	"1"	"00085"	"00085"	"2008-06-05 11:42:35"	"00085"	"2013-04-24 10:51:22"	"CSGE;RT-PCR;SEQ"	"RNA"	""	""
"0000323575"	"00322386"	"1"	"00085"	"00085"	"2008-06-05 13:39:05"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323576"	"00322387"	"1"	"03870"	"03870"	"2014-02-05 15:54:22"	"00085"	"2020-01-16 10:51:05"	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323577"	"00322388"	"1"	"03886"	"03886"	"2016-10-02 01:26:11"	""	""	"?"	"?"	""	""
"0000323578"	"00322389"	"1"	"00085"	"00085"	"2019-09-04 12:40:01"	""	""	"SEQ"	"DNA"	""	""
"0000323579"	"00322390"	"1"	"03704"	"00085"	"2009-02-13 15:56:10"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323580"	"00322391"	"1"	"03870"	"03870"	"2010-07-26 15:42:38"	"00085"	"2013-04-22 11:13:09"	"DHPLC;SEQ"	"DNA"	""	""
"0000323581"	"00322392"	"1"	"00085"	"00085"	"2008-03-11 14:10:27"	"00085"	"2009-12-01 14:36:19"	"?"	"?"	""	""
"0000323582"	"00322393"	"1"	"00085"	"00085"	"2008-03-13 14:24:22"	"00085"	"2009-12-01 14:36:32"	"SEQ"	"RNA"	""	""
"0000323583"	"00322394"	"1"	"00085"	"00085"	"2008-03-13 14:33:36"	"00085"	"2013-04-24 16:49:07"	"SEQ"	"DNA"	""	""
"0000323586"	"00322397"	"1"	"03704"	"00085"	"2008-03-11 14:44:05"	"00085"	"2009-12-01 14:35:50"	"?"	"?"	""	""
"0000323587"	"00322398"	"1"	"00085"	"00085"	"2008-03-13 14:29:06"	"00085"	"2009-12-01 14:36:02"	"SEQ"	"RNA"	""	""
"0000323588"	"00322399"	"1"	"03704"	"00085"	"2008-03-13 14:41:06"	"00085"	"2011-03-30 13:03:11"	"?"	"?"	""	""
"0000323589"	"00322400"	"1"	"00085"	"00085"	"2008-03-11 14:45:17"	"00085"	"2009-12-01 14:35:23"	"?"	"?"	""	""
"0000323590"	"00322401"	"1"	"00085"	"00085"	"2018-08-01 15:01:19"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323591"	"00322402"	"1"	"00085"	"00085"	"2018-08-01 15:06:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323592"	"00322403"	"1"	"00085"	"00085"	"2018-08-01 15:08:33"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323593"	"00322404"	"1"	"00085"	"00085"	"2008-03-13 14:52:06"	"00085"	"2009-12-01 14:35:09"	"SEQ"	"RNA"	""	""
"0000323594"	"00322405"	"1"	"00085"	"00085"	"2008-06-05 13:46:15"	"00085"	"2013-04-24 10:19:03"	"PCR;SEQ"	"DNA"	""	""
"0000323595"	"00322406"	"1"	"00085"	"00085"	"2012-05-09 12:01:23"	"00085"	"2012-05-09 12:03:39"	"PCR;SEQ"	"DNA"	""	""
"0000323596"	"00322407"	"1"	"03870"	"03870"	"2017-03-23 12:31:40"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323597"	"00322408"	"1"	"03853"	"03853"	"2009-02-06 13:39:51"	""	""	"SEQ"	"DNA"	""	""
"0000323598"	"00322409"	"1"	"00085"	"00085"	"2008-08-01 09:51:31"	"00085"	"2009-12-01 16:26:40"	"?"	"?"	""	""
"0000323599"	"00322410"	"1"	"00085"	"00085"	"2008-08-01 09:49:50"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323600"	"00322411"	"1"	"03879"	"03879"	"2014-12-05 08:47:33"	"00085"	"2015-08-07 15:50:29"	"PCR;SEQ"	"DNA"	""	""
"0000323601"	"00322412"	"1"	"00085"	"00085"	"2008-08-01 09:55:59"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323602"	"00322413"	"1"	"03885"	"03885"	"2016-10-04 17:49:44"	"00085"	"2017-03-13 16:47:21"	"SEQ-NG"	"DNA"	""	""
"0000323603"	"00322414"	"1"	"03897"	"00085"	"2019-08-29 14:07:33"	"00085"	"2020-03-29 11:57:52"	"SEQ"	"DNA"	""	""
"0000323604"	"00322415"	"1"	"00085"	"00085"	"2014-04-09 11:24:07"	"00085"	"2014-04-09 11:27:53"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000323605"	"00322416"	"1"	"00085"	"00085"	"2014-09-15 16:20:27"	"00085"	"2014-10-07 11:26:53"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000323606"	"00322417"	"1"	"03897"	"00085"	"2019-08-28 15:03:42"	""	""	"SEQ"	"DNA"	""	""
"0000323607"	"00322418"	"1"	"00085"	"00085"	"2009-02-26 12:16:27"	"00085"	"2012-12-12 15:44:54"	"PCR;SEQ"	"DNA"	""	""
"0000323609"	"00322420"	"1"	"03704"	"00085"	"2008-03-11 14:46:27"	"00085"	"2009-12-01 16:46:53"	"?"	"?"	""	""
"0000323610"	"00322421"	"1"	"00085"	"00085"	"2008-03-11 15:35:49"	"00085"	"2009-12-01 16:47:03"	"?"	"?"	""	""
"0000323611"	"00322422"	"1"	"00085"	"00085"	"2008-03-11 15:37:55"	"00085"	"2009-12-01 16:47:18"	"?"	"?"	""	""
"0000323612"	"00322423"	"1"	"00085"	"00085"	"2008-03-11 15:39:28"	"00085"	"2017-07-17 16:15:27"	"?"	"?"	""	""
"0000323613"	"00322424"	"1"	"00085"	"00085"	"2008-03-13 14:45:49"	"00085"	"2009-12-01 16:47:44"	"SEQ"	"RNA"	""	""
"0000323614"	"00322425"	"1"	"03853"	"03853"	"2010-05-03 14:25:54"	""	""	"SEQ"	"DNA"	""	""
"0000323615"	"00322426"	"1"	"00085"	"00085"	"2011-06-24 15:23:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323616"	"00322427"	"1"	"03865"	"03865"	"2013-08-22 09:50:01"	"00085"	"2013-08-23 13:53:41"	"PCR;SEQ"	"DNA"	""	""
"0000323617"	"00322428"	"1"	"00085"	"00085"	"2014-08-05 15:55:52"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000323618"	"00322429"	"1"	"00085"	"00085"	"2014-11-05 08:26:34"	""	""	"SEQ"	"DNA"	""	""
"0000323619"	"00322430"	"1"	"03879"	"03879"	"2014-12-05 08:38:49"	"00085"	"2015-08-07 16:13:00"	"PCR;SEQ"	"DNA"	""	""
"0000323620"	"00322431"	"1"	"01819"	"01819"	"2016-11-28 11:04:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323621"	"00322432"	"1"	"00085"	"00085"	"2017-03-17 11:16:41"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000323622"	"00322433"	"1"	"03870"	"03870"	"2017-03-23 12:32:47"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323623"	"00322434"	"1"	"00085"	"00085"	"2018-01-18 13:07:47"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323624"	"00322435"	"1"	"03894"	"03894"	"2018-09-27 12:05:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323625"	"00322436"	"1"	"03894"	"03894"	"2018-09-27 13:45:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323626"	"00322437"	"1"	"03894"	"03894"	"2018-09-27 14:06:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323627"	"00322438"	"1"	"00085"	"00085"	"2019-08-15 15:32:48"	"00085"	"2019-08-28 14:02:29"	"SEQ-NG"	"DNA"	""	""
"0000323629"	"00322440"	"1"	"00085"	"00085"	"2019-08-28 16:16:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323630"	"00322441"	"1"	"03897"	"03897"	"2020-04-11 11:59:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323631"	"00322442"	"1"	"03704"	"00085"	"2008-03-11 15:40:40"	"00085"	"2009-12-01 16:46:38"	"?"	"?"	""	""
"0000323632"	"00322443"	"1"	"03855"	"03855"	"2009-12-29 15:46:36"	""	""	"SEQ"	"DNA"	""	""
"0000323633"	"00322444"	"1"	"03879"	"03879"	"2014-12-08 16:11:24"	"00085"	"2015-08-07 15:55:06"	"PCR;SEQ"	"DNA"	""	""
"0000323634"	"00322445"	"1"	"03704"	"00085"	"2008-03-11 15:42:03"	"00085"	"2009-12-01 14:33:11"	"?"	"?"	""	""
"0000323635"	"00322446"	"1"	"00085"	"00085"	"2008-03-11 15:43:06"	"00085"	"2009-12-01 14:33:25"	"?"	"?"	""	""
"0000323636"	"00322447"	"1"	"00085"	"00085"	"2008-03-11 15:44:11"	"00085"	"2009-12-01 14:33:39"	"?"	"?"	""	""
"0000323637"	"00322448"	"1"	"00085"	"00085"	"2008-03-13 14:59:18"	"00085"	"2014-03-19 14:42:46"	"SEQ"	"DNA"	""	""
"0000323638"	"00322449"	"1"	"00085"	"00085"	"2008-03-13 15:03:06"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323639"	"00322450"	"1"	"00085"	"00085"	"2008-03-17 15:53:14"	"00085"	"2014-04-07 08:56:22"	"PCR;SEQ"	"DNA"	""	""
"0000323640"	"00322451"	"1"	"03702"	"03702"	"2008-09-03 21:41:10"	"00085"	"2010-08-13 13:11:22"	"PAGE;PCR;RT-PCR;SEQ"	"RNA"	""	""
"0000323641"	"00322452"	"1"	"03855"	"03855"	"2009-12-29 15:45:00"	""	""	"SEQ"	"DNA"	""	""
"0000323642"	"00322453"	"1"	"00085"	"00085"	"2011-05-23 09:49:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323643"	"00322454"	"1"	"00085"	"00085"	"2011-06-24 15:26:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323644"	"00322455"	"1"	"03865"	"03865"	"2012-06-23 16:03:14"	"00085"	"2013-08-23 13:46:50"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323645"	"00322456"	"1"	"03865"	"03865"	"2012-06-23 16:07:34"	"00085"	"2013-08-23 13:47:15"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323646"	"00322457"	"1"	"03865"	"03865"	"2012-06-23 16:09:38"	"00085"	"2013-08-23 13:47:33"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323647"	"00322458"	"1"	"00085"	"00085"	"2012-10-22 15:36:35"	""	""	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323648"	"00322459"	"1"	"03865"	"03865"	"2013-08-22 09:52:09"	""	""	"MS;PCR;SEQ"	"DNA"	""	""
"0000323649"	"00322460"	"1"	"03879"	"03879"	"2014-12-08 16:48:43"	"00085"	"2015-08-07 15:52:16"	"PCR;SEQ"	"DNA"	""	""
"0000323650"	"00322461"	"1"	"03879"	"03879"	"2014-12-09 12:45:22"	"00085"	"2015-08-07 15:51:36"	"PCR;SEQ"	"DNA"	""	""
"0000323651"	"00322462"	"1"	"03872"	"03872"	"2015-04-27 15:19:14"	"00085"	"2016-07-26 13:50:47"	"MCA;PCR;SEQ"	"DNA"	""	""
"0000323652"	"00322463"	"1"	"03870"	"03870"	"2017-03-23 12:34:11"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323653"	"00322464"	"1"	"03870"	"03870"	"2017-03-23 12:35:03"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323654"	"00322465"	"1"	"03894"	"03894"	"2018-09-27 08:28:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323655"	"00322466"	"1"	"03897"	"00085"	"2019-08-28 15:27:04"	"00085"	"2020-03-29 12:03:19"	"SEQ"	"DNA"	""	""
"0000323656"	"00322467"	"1"	"03870"	"03870"	"2011-11-02 12:22:04"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323658"	"00322469"	"1"	"00085"	"00085"	"2019-09-04 12:55:24"	"00085"	"2019-09-11 15:07:04"	"SSCA"	"DNA"	""	""
"0000323659"	"00322470"	"1"	"00085"	"00085"	"2009-04-21 11:52:08"	"00085"	"2013-03-18 15:58:04"	"PCR;SEQ"	"DNA"	""	""
"0000323660"	"00322471"	"1"	"00085"	"00085"	"2009-03-04 13:30:10"	"00085"	"2014-03-19 09:40:39"	"PCR;SEQ"	"DNA"	""	""
"0000323661"	"00322472"	"1"	"00085"	"00085"	"2008-03-13 15:33:58"	"00085"	"2014-03-19 14:43:38"	"SEQ"	"RNA"	""	""
"0000323662"	"00322473"	"1"	"00085"	"00085"	"2008-03-11 15:45:32"	"00085"	"2009-12-01 14:32:45"	"?"	"?"	""	""
"0000323663"	"00322474"	"1"	"03894"	"03894"	"2018-09-27 13:38:38"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323664"	"00322475"	"1"	"03704"	"00085"	"2009-02-25 12:45:04"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323665"	"00322476"	"1"	"03885"	"03885"	"2016-10-04 18:00:30"	"00085"	"2017-03-13 16:49:01"	"SEQ-NG"	"DNA"	""	""
"0000323666"	"00322477"	"1"	"03897"	"00085"	"2019-08-29 13:35:03"	""	""	"SEQ"	"DNA"	""	""
"0000323667"	"00322478"	"1"	"03897"	"00085"	"2019-08-29 13:39:19"	""	""	"SEQ"	"DNA"	""	""
"0000323668"	"00322479"	"1"	"00085"	"00085"	"2014-04-01 14:28:58"	""	""	"?"	"?"	""	""
"0000323669"	"00322480"	"1"	"00085"	"00085"	"2008-03-13 15:40:52"	"00085"	"2014-03-19 14:46:18"	"SEQ"	"RNA"	""	""
"0000323670"	"00322481"	"1"	"03870"	"03870"	"2011-07-14 16:58:57"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323671"	"00322482"	"1"	"03894"	"03894"	"2018-09-27 13:22:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323672"	"00322483"	"1"	"03704"	"00085"	"2008-03-11 15:46:43"	"00085"	"2009-12-01 14:32:04"	"?"	"?"	""	""
"0000323673"	"00322484"	"1"	"03704"	"00085"	"2008-03-13 15:46:49"	"00085"	"2014-03-19 14:47:34"	"?"	"?"	""	""
"0000323674"	"00322485"	"1"	"00085"	"00085"	"2008-03-14 09:05:40"	"00085"	"2009-12-01 14:31:50"	"DHPLC;SEQ"	"RNA"	""	""
"0000323675"	"00322486"	"1"	"03870"	"03870"	"2012-02-16 15:02:50"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323676"	"00322487"	"1"	"03894"	"03894"	"2018-09-27 13:59:25"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323677"	"00322488"	"1"	"00085"	"00085"	"2016-08-24 11:41:14"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323678"	"00322489"	"1"	"03704"	"00085"	"2009-02-13 16:03:41"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323679"	"00322490"	"1"	"03704"	"00085"	"2008-06-05 13:55:20"	"00085"	"2014-03-20 11:41:17"	"DGGE;PCR;SEQ;SSCA"	"DNA"	""	""
"0000323680"	"00322491"	"1"	"00085"	"00085"	"2019-05-22 11:22:51"	"00085"	"2019-05-22 11:33:37"	"SEQ-NG"	"DNA"	""	""
"0000323681"	"00322492"	"1"	"00085"	"00085"	"2008-03-11 15:47:54"	"00085"	"2009-12-01 14:31:25"	"?"	"?"	""	""
"0000323682"	"00322493"	"1"	"03881"	"03881"	"2015-08-21 10:11:28"	""	""	"SEQ"	"DNA"	""	""
"0000323683"	"00322494"	"1"	"03894"	"03894"	"2018-09-27 11:55:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323684"	"00322495"	"1"	"00085"	"00085"	"2008-06-05 14:01:25"	"00085"	"2012-07-10 15:20:23"	"PCR;SEQ"	"DNA"	""	""
"0000323685"	"00322496"	"1"	"03885"	"03885"	"2016-10-04 17:52:34"	"00085"	"2017-03-13 16:51:16"	"SEQ-NG"	"DNA"	""	""
"0000323686"	"00322497"	"1"	"00085"	"00085"	"2008-06-05 14:07:56"	"00085"	"2009-12-01 14:30:41"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000323687"	"00322498"	"1"	"00085"	"00085"	"2008-06-05 14:13:03"	"00085"	"2014-03-19 14:49:34"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000323688"	"00322499"	"1"	"00085"	"00085"	"2008-03-14 09:16:51"	"00085"	"2009-12-01 14:30:29"	"CMC;SEQ"	"RNA"	""	""
"0000323689"	"00322500"	"1"	"03871"	"03871"	"2013-09-17 14:17:39"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323690"	"00322501"	"1"	"03704"	"00085"	"2011-03-30 13:07:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323692"	"00322503"	"1"	"00085"	"00085"	"2011-06-24 15:29:17"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323693"	"00322504"	"1"	"03885"	"03885"	"2016-10-04 17:57:46"	"00085"	"2017-03-13 16:47:50"	"SEQ-NG"	"DNA"	""	""
"0000323694"	"00322505"	"1"	"03870"	"03870"	"2017-03-23 12:41:02"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323695"	"00322506"	"1"	"03865"	"03865"	"2012-06-23 16:12:29"	"00085"	"2013-08-23 13:47:59"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323696"	"00322507"	"1"	"03870"	"03870"	"2009-05-06 10:03:22"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323697"	"00322508"	"1"	"00085"	"00085"	"2018-01-19 08:49:26"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323698"	"00322509"	"1"	"00085"	"00085"	"2008-03-14 09:21:32"	"00085"	"2009-12-01 14:30:15"	"SEQ"	"RNA"	""	""
"0000323699"	"00322510"	"1"	"00085"	"00085"	"2018-08-07 08:40:06"	""	""	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000323700"	"00322511"	"1"	"03853"	"03853"	"2008-11-05 17:44:36"	"00085"	"2008-11-19 09:00:36"	"SEQ"	"DNA"	""	""
"0000323701"	"00322512"	"1"	"03853"	"03853"	"2009-08-28 15:39:23"	""	""	"SEQ"	"DNA"	""	""
"0000323702"	"00322513"	"1"	"00475"	"00475"	"2010-01-15 13:33:05"	""	""	"SEQ"	"DNA"	""	""
"0000323703"	"00322514"	"1"	"03855"	"03855"	"2009-12-30 11:36:11"	""	""	"SEQ"	"DNA"	""	""
"0000323704"	"00322515"	"1"	"03704"	"00085"	"2008-06-05 14:20:10"	"00085"	"2014-03-19 14:51:52"	"DGGE;PCR;SEQ;SSCA"	"DNA"	""	""
"0000323705"	"00322516"	"1"	"00475"	"00475"	"2010-01-15 13:34:59"	""	""	"SEQ"	"DNA"	""	""
"0000323706"	"00322517"	"1"	"03894"	"03894"	"2018-09-26 12:45:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323707"	"00322518"	"1"	"03704"	"00085"	"2008-03-14 09:41:15"	"00085"	"2014-03-19 14:52:27"	"SEQ;SSCA"	"DNA"	""	""
"0000323708"	"00322519"	"1"	"00085"	"00085"	"2008-03-14 09:44:51"	"00085"	"2009-12-01 14:28:35"	"DGGE;SEQ"	"DNA"	""	""
"0000323709"	"00322520"	"1"	"00085"	"00085"	"2008-03-14 09:45:58"	"00085"	"2009-12-01 14:29:08"	"DGGE;SEQ"	"DNA"	""	""
"0000323710"	"00322521"	"1"	"00085"	"00085"	"2008-03-14 09:53:21"	"00085"	"2013-04-24 16:49:07"	"SEQ"	"DNA"	""	""
"0000323711"	"00322522"	"1"	"00085"	"00085"	"2008-03-14 10:22:18"	"00085"	"2013-04-24 10:19:03"	"SEQ"	"DNA"	""	""
"0000323712"	"00322523"	"1"	"00085"	"00085"	"2008-03-17 15:43:12"	"00085"	"2014-04-07 09:02:28"	"PCR;SEQ"	"DNA"	""	""
"0000323713"	"00322524"	"1"	"03855"	"03855"	"2009-12-29 15:47:15"	"00085"	"2016-02-22 08:24:33"	"SEQ"	"DNA"	""	""
"0000323714"	"00322525"	"1"	"03870"	"03870"	"2017-03-23 12:42:33"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323715"	"00322526"	"1"	"03870"	"03870"	"2017-03-23 12:43:34"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323716"	"00322527"	"1"	"00085"	"00085"	"2009-03-04 15:50:28"	"00085"	"2014-03-19 09:42:03"	"PCR;SEQ"	"DNA"	""	""
"0000323717"	"00322528"	"1"	"03704"	"00085"	"2008-08-01 10:41:18"	"00085"	"2014-03-19 14:53:45"	"?"	"?"	""	""
"0000323718"	"00322529"	"1"	"03704"	"00085"	"2009-02-25 12:51:55"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323719"	"00322530"	"1"	"03855"	"03855"	"2009-12-29 15:49:50"	""	""	"SEQ"	"DNA"	""	""
"0000323720"	"00322531"	"1"	"03879"	"03879"	"2014-12-08 20:22:09"	"00085"	"2015-08-07 14:56:38"	"PCR;SEQ"	"DNA"	""	""
"0000323721"	"00322532"	"1"	"03879"	"03879"	"2014-12-08 20:23:30"	"00085"	"2015-08-07 14:55:50"	"PCR;SEQ"	"DNA"	""	""
"0000323722"	"00322533"	"1"	"03704"	"00085"	"2008-08-01 10:51:01"	"00085"	"2015-04-17 16:29:36"	"?"	"?"	""	""
"0000323723"	"00322534"	"1"	"03855"	"03855"	"2009-12-29 15:51:22"	""	""	"SEQ"	"DNA"	""	""
"0000323724"	"00322535"	"1"	"03704"	"00085"	"2009-02-25 12:55:33"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323726"	"00322537"	"1"	"03885"	"03885"	"2016-10-04 18:03:46"	""	""	"SEQ"	"DNA"	""	""
"0000323727"	"00322538"	"1"	"03704"	"00085"	"2008-03-11 15:49:09"	"00085"	"2009-12-01 14:26:59"	"?"	"?"	""	""
"0000323728"	"00322539"	"1"	"03704"	"00085"	"2008-03-14 13:21:16"	"00085"	"2014-03-19 14:54:47"	"SEQ"	"RNA"	""	""
"0000323729"	"00322540"	"1"	"03865"	"03865"	"2012-06-23 16:16:53"	"00085"	"2013-08-23 13:48:15"	"MS;PCR;SEQ"	"DNA"	""	""
"0000323730"	"00322541"	"1"	"00085"	"00085"	"2008-03-11 15:50:23"	"00085"	"2017-07-17 16:16:18"	"?"	"?"	""	""
"0000323731"	"00322542"	"1"	"00085"	"00085"	"2015-03-10 11:18:08"	"00085"	"2016-02-16 13:42:50"	"PCR;SEQ;arraySEQ"	"DNA"	""	""
"0000323732"	"00322543"	"1"	"00085"	"00085"	"2008-03-11 15:51:28"	"00085"	"2009-12-01 14:26:31"	"?"	"?"	""	""
"0000323733"	"00322544"	"1"	"00085"	"00085"	"2008-03-14 13:53:42"	"00085"	"2014-03-19 14:55:54"	"SEQ;CMC"	"RNA"	""	""
"0000323734"	"00322545"	"1"	"00085"	"00085"	"2014-08-05 15:12:34"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000323735"	"00322546"	"1"	"00085"	"00085"	"2014-08-05 15:43:34"	""	""	"PCRm;SEQ"	"DNA"	""	""
"0000323736"	"00322547"	"1"	"00085"	"00085"	"2008-03-14 13:58:40"	"00085"	"2009-12-01 14:25:59"	"CMC;SEQ"	"RNA"	""	""
"0000323737"	"00322548"	"1"	"00085"	"00085"	"2009-02-26 12:21:44"	"00085"	"2014-03-19 09:38:45"	"PCR;SEQ"	"DNA"	""	""
"0000323738"	"00322549"	"1"	"00085"	"00085"	"2008-03-14 14:02:01"	"00085"	"2013-02-06 13:07:37"	"Southern;CMC"	"RNA"	""	""
"0000323739"	"00322550"	"1"	"00085"	"00085"	"2008-03-14 14:06:37"	"00085"	"2012-08-24 12:23:51"	"SEQ"	"DNA"	""	""
"0000323740"	"00322551"	"1"	"03894"	"03894"	"2018-09-26 12:26:24"	"03894"	"2018-09-28 08:21:05"	"PCR;SEQ"	"DNA"	""	""
"0000323741"	"00322552"	"1"	"00085"	"00085"	"2009-04-21 11:43:39"	"00085"	"2013-03-18 15:59:37"	"PCR;SEQ"	"DNA"	""	""
"0000323742"	"00322553"	"1"	"00085"	"00085"	"2008-06-05 14:25:08"	"00085"	"2013-03-18 15:46:35"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323743"	"00322554"	"1"	"03897"	"03897"	"2020-03-26 13:49:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323744"	"00322555"	"1"	"03855"	"03855"	"2009-12-30 09:30:15"	""	""	"SEQ"	"DNA"	""	""
"0000323745"	"00322556"	"1"	"00085"	"00085"	"2009-07-01 15:21:30"	"00085"	"2014-03-20 11:39:10"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000323746"	"00322557"	"1"	"03704"	"00085"	"2008-03-11 15:52:42"	"00085"	"2009-12-01 14:24:58"	"?"	"?"	""	""
"0000323747"	"00322558"	"1"	"03704"	"00085"	"2008-03-14 14:18:31"	"00085"	"2009-12-01 14:25:11"	"SEQ"	"DNA"	""	""
"0000323748"	"00322559"	"1"	"01819"	"01819"	"2011-09-21 14:00:50"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323749"	"00322560"	"1"	"03704"	"00085"	"2008-03-11 15:54:01"	"00085"	"2009-12-01 16:30:32"	"?"	"?"	""	""
"0000323750"	"00322561"	"1"	"03704"	"00085"	"2008-03-11 15:55:17"	"00085"	"2009-12-01 16:30:43"	"?"	"?"	""	""
"0000323751"	"00322562"	"1"	"03704"	"00085"	"2008-03-11 15:56:06"	"00085"	"2009-12-01 16:30:53"	"?"	"?"	""	""
"0000323752"	"00322563"	"1"	"03704"	"00085"	"2008-03-11 15:56:58"	"00085"	"2009-12-01 16:31:04"	"?"	"?"	""	""
"0000323753"	"00322564"	"1"	"00085"	"00085"	"2008-03-11 15:58:05"	"00085"	"2009-12-01 16:31:14"	"?"	"?"	""	""
"0000323754"	"00322565"	"1"	"00085"	"00085"	"2008-03-11 15:59:24"	"00085"	"2013-04-24 09:39:36"	"?"	"?"	""	""
"0000323755"	"00322566"	"1"	"03853"	"03853"	"2009-03-06 14:47:43"	"00085"	"2014-03-20 09:24:01"	"SEQ"	"DNA"	""	""
"0000323756"	"00322567"	"1"	"03853"	"03853"	"2009-08-28 15:55:44"	"00085"	"2014-03-20 09:24:34"	"SEQ"	"DNA"	""	""
"0000323757"	"00322568"	"1"	"03870"	"03870"	"2010-07-28 15:41:08"	"00085"	"2013-04-22 11:14:06"	"DHPLC;SEQ"	"DNA"	""	""
"0000323758"	"00322569"	"1"	"00085"	"00085"	"2013-03-04 11:43:38"	""	""	"SEQ"	"DNA"	""	""
"0000323760"	"00322571"	"1"	"03879"	"03879"	"2014-12-04 09:59:01"	"00085"	"2015-08-07 15:48:48"	"PCR;SEQ"	"DNA"	""	""
"0000323761"	"00322572"	"1"	"03879"	"03879"	"2014-12-05 14:27:14"	"00085"	"2015-08-07 15:49:19"	"PCR;SEQ"	"DNA"	""	""
"0000323762"	"00322573"	"1"	"03879"	"03879"	"2014-12-05 14:28:15"	"00085"	"2015-08-07 15:53:16"	"PCR;SEQ"	"DNA"	""	""
"0000323763"	"00322574"	"1"	"00085"	"00085"	"2015-12-10 08:54:19"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323764"	"00322575"	"1"	"00085"	"00085"	"2017-03-15 16:21:09"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323765"	"00322576"	"1"	"03870"	"03870"	"2017-03-23 12:48:03"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323766"	"00322577"	"1"	"03894"	"03894"	"2018-09-26 13:20:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323767"	"00322578"	"1"	"03894"	"03894"	"2018-09-27 12:25:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323768"	"00322579"	"1"	"03894"	"03894"	"2018-09-27 12:32:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323769"	"00322580"	"1"	"03894"	"03894"	"2018-09-27 12:36:22"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323770"	"00322581"	"1"	"03894"	"03894"	"2018-09-27 14:00:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323771"	"00322582"	"1"	"03704"	"00085"	"2008-03-11 16:00:31"	"00085"	"2009-12-01 16:32:00"	"?"	"?"	""	""
"0000323772"	"00322583"	"1"	"01819"	"01819"	"2011-09-21 14:03:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323773"	"00322584"	"1"	"00085"	"00085"	"2008-03-14 14:35:24"	"00085"	"2014-03-19 14:57:13"	"SEQ;CMC"	"RNA"	""	""
"0000323774"	"00322585"	"1"	"00085"	"00085"	"2011-06-24 15:36:18"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323775"	"00322586"	"1"	"00085"	"00085"	"2015-02-16 16:41:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323776"	"00322587"	"1"	"03894"	"03894"	"2018-09-25 14:23:49"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323777"	"00322588"	"1"	"03894"	"03894"	"2018-09-27 12:54:45"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323778"	"00322589"	"1"	"00085"	"00085"	"2008-03-11 16:03:47"	"00085"	"2017-07-17 16:17:03"	"?"	"?"	""	""
"0000323779"	"00322590"	"1"	"03704"	"00085"	"2008-03-11 16:02:19"	"00085"	"2009-12-01 16:33:45"	"?"	"?"	""	""
"0000323780"	"00322591"	"1"	"03870"	"03870"	"2010-05-10 15:24:00"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323781"	"00322592"	"1"	"00085"	"00085"	"2016-05-18 11:53:04"	""	""	"SEQ"	"DNA"	""	""
"0000323782"	"00322593"	"1"	"03870"	"03870"	"2017-03-23 12:49:37"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323783"	"00322594"	"1"	"00085"	"00085"	"2009-03-04 15:57:08"	"00085"	"2014-03-19 09:43:08"	"PCR;SEQ"	"DNA"	""	""
"0000323784"	"00322595"	"1"	"01819"	"01819"	"2011-09-22 14:01:40"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323785"	"00322596"	"1"	"01819"	"01819"	"2016-11-28 10:34:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323786"	"00322597"	"1"	"03894"	"03894"	"2018-09-26 13:21:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323787"	"00322598"	"1"	"03894"	"03894"	"2018-09-27 13:57:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323788"	"00322599"	"1"	"00085"	"00085"	"2008-08-01 10:55:21"	"00085"	"2009-12-01 14:23:40"	"?"	"?"	""	""
"0000323789"	"00322600"	"1"	"03870"	"03870"	"2017-03-23 12:50:41"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323790"	"00322601"	"1"	"03894"	"03894"	"2018-09-27 14:04:12"	"00006"	"2021-10-30 10:44:54"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000323791"	"00322602"	"1"	"00085"	"00085"	"2008-08-01 11:20:29"	"00085"	"2013-04-24 16:49:07"	"PCR;SEQ"	"DNA"	""	""
"0000323792"	"00322603"	"1"	"03853"	"03853"	"2010-05-03 14:23:39"	""	""	"SEQ"	"DNA"	""	""
"0000323793"	"00322604"	"1"	"00085"	"00085"	"2013-06-14 13:56:50"	""	""	"SEQ"	"DNA"	""	""
"0000323794"	"00322605"	"1"	"00085"	"00085"	"2013-09-30 08:41:18"	""	""	"SEQ"	"DNA"	""	""
"0000323795"	"00322606"	"1"	"03885"	"03885"	"2016-10-04 18:06:47"	"00085"	"2017-03-13 16:53:54"	"SEQ-NG"	"DNA"	""	""
"0000323796"	"00322607"	"1"	"00085"	"00085"	"2014-01-27 08:57:33"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323798"	"00322609"	"1"	"03704"	"00085"	"2008-03-11 16:05:26"	"00085"	"2009-12-01 14:23:14"	"?"	"?"	""	""
"0000323799"	"00322610"	"1"	"03894"	"03894"	"2018-09-27 13:57:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323800"	"00322611"	"1"	"03862"	"03862"	"2012-02-08 15:32:12"	""	""	"SEQ"	"DNA"	""	""
"0000323801"	"00322612"	"1"	"03704"	"00085"	"2008-03-11 16:06:45"	"00085"	"2009-12-01 14:21:59"	"?"	"?"	""	""
"0000323802"	"00322613"	"1"	"03704"	"00085"	"2008-03-11 16:07:47"	"00085"	"2009-12-01 14:22:12"	"?"	"?"	""	""
"0000323803"	"00322614"	"1"	"03704"	"00085"	"2008-03-14 14:47:44"	"00085"	"2013-04-24 10:57:00"	"SEQ"	"RNA"	""	""
"0000323804"	"00322615"	"1"	"03704"	"00085"	"2009-05-05 15:44:00"	"00085"	"2014-04-02 10:08:43"	"SEQ"	"RNA"	""	""
"0000323805"	"00322616"	"1"	"03855"	"03855"	"2009-12-30 09:31:17"	""	""	"SEQ"	"DNA"	""	""
"0000323806"	"00322617"	"1"	"03855"	"03855"	"2009-12-30 09:38:34"	""	""	"SEQ"	"DNA"	""	""
"0000323807"	"00322618"	"1"	"00085"	"00085"	"2008-03-14 14:59:04"	"00085"	"2009-12-01 14:21:08"	"CMC;SEQ"	"RNA"	""	""
"0000323808"	"00322619"	"1"	"03704"	"00085"	"2008-03-11 16:09:05"	"00085"	"2009-12-01 14:20:21"	"?"	"?"	""	""
"0000323809"	"00322620"	"1"	"00085"	"00085"	"2008-03-14 15:07:29"	"00085"	"2009-12-01 14:20:41"	"?"	"?"	""	""
"0000323810"	"00322621"	"1"	"00085"	"00085"	"2014-10-08 13:17:32"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323811"	"00322622"	"1"	"03894"	"03894"	"2018-09-27 12:00:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323812"	"00322623"	"1"	"03894"	"03894"	"2018-09-27 13:54:00"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323814"	"00322625"	"1"	"03704"	"00085"	"2008-06-05 14:32:01"	"00085"	"2013-04-24 10:41:34"	"RT-PCR;SEQ"	"RNA"	""	""
"0000323815"	"00322626"	"1"	"00085"	"00085"	"2008-06-05 14:36:41"	"00085"	"2013-04-24 10:23:45"	"CSGE;PCR;SEQ"	"DNA"	""	""
"0000323816"	"00322627"	"1"	"03704"	"00085"	"2008-03-14 15:09:56"	"00085"	"2014-03-20 09:18:53"	"?"	"?"	""	""
"0000323817"	"00322628"	"1"	"03855"	"03855"	"2009-12-30 09:35:02"	""	""	"SEQ"	"DNA"	""	""
"0000323818"	"00322629"	"1"	"01819"	"01819"	"2016-11-28 11:13:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323819"	"00322630"	"1"	"01819"	"01819"	"2016-11-28 13:16:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323820"	"00322631"	"1"	"00085"	"00085"	"2013-12-11 15:50:58"	"00085"	"2013-12-11 15:51:32"	"PCR;SEQ"	"DNA"	""	""
"0000323821"	"00322632"	"1"	"03879"	"03879"	"2014-12-04 09:15:28"	"00085"	"2015-08-07 15:53:48"	"PCR;SEQ"	"DNA"	""	""
"0000323822"	"00322633"	"1"	"03879"	"03879"	"2014-12-08 12:07:42"	"00085"	"2015-08-07 15:54:26"	"PCR;SEQ"	"DNA"	""	""
"0000323823"	"00322634"	"1"	"03894"	"03894"	"2018-09-27 13:26:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323824"	"00322635"	"1"	"03870"	"03870"	"2009-05-21 17:58:26"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323825"	"00322636"	"1"	"00085"	"00085"	"2008-06-05 14:41:24"	"00085"	"2012-07-10 15:33:50"	"PCR;SEQ"	"DNA"	""	""
"0000323826"	"00322637"	"1"	"03704"	"00085"	"2008-03-17 10:10:36"	"00085"	"2013-08-20 13:13:44"	"SEQ"	"DNA;RNA"	""	""
"0000323827"	"00322638"	"1"	"00085"	"00085"	"2008-06-05 14:44:57"	"00085"	"2013-04-24 10:35:25"	"PCR;SEQ"	"DNA"	""	""
"0000323828"	"00322639"	"1"	"03704"	"00085"	"2008-06-05 14:49:22"	"00085"	"2014-03-19 15:03:16"	"DGGE;PCR;SEQ;SSCA"	"DNA"	""	""
"0000323829"	"00322640"	"1"	"00085"	"00085"	"2011-06-24 15:39:43"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323830"	"00322641"	"1"	"03853"	"03853"	"2009-08-28 15:20:47"	""	""	"SEQ"	"DNA"	""	""
"0000323831"	"00322642"	"1"	"03879"	"03879"	"2014-12-09 12:59:37"	"00085"	"2015-08-07 15:55:53"	"PCR;SEQ"	"DNA"	""	""
"0000323832"	"00322643"	"1"	"00085"	"00085"	"2016-05-18 11:39:08"	""	""	"SEQ"	"DNA"	""	""
"0000323833"	"00322644"	"1"	"03879"	"03879"	"2014-12-02 10:13:45"	"00085"	"2015-08-07 15:56:42"	"PCR"	"DNA"	""	""
"0000323835"	"00322646"	"1"	"00085"	"00085"	"2018-08-03 09:07:39"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323836"	"00322647"	"1"	"00085"	"00085"	"2018-08-03 09:12:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323837"	"00322648"	"1"	"00475"	"00475"	"2010-01-14 17:37:12"	""	""	"SEQ"	"DNA"	""	""
"0000323838"	"00322649"	"1"	"00085"	"00085"	"2008-09-09 13:43:24"	"00085"	"2014-03-20 09:28:08"	"SEQ"	"DNA"	""	""
"0000323839"	"00322650"	"1"	"00085"	"00085"	"2014-06-04 16:27:26"	"00085"	"2016-03-07 16:37:44"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000323840"	"00322651"	"1"	"03884"	"00085"	"2016-08-22 10:55:10"	"00085"	"2017-03-15 09:14:21"	"PCR;SEQ;SEQ-NG"	"DNA"	""	""
"0000323841"	"00322652"	"1"	"03897"	"03897"	"2020-04-11 12:07:51"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323842"	"00322653"	"1"	"03704"	"00085"	"2008-06-05 15:02:33"	"00085"	"2012-08-03 15:51:46"	"DGGE;PCR;SEQ"	"DNA"	""	""
"0000323843"	"00322654"	"1"	"03870"	"03870"	"2009-05-21 17:55:04"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323844"	"00322655"	"1"	"00085"	"00085"	"2010-03-26 14:33:50"	"00085"	"2011-02-24 12:51:54"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000323846"	"00322657"	"1"	"03897"	"03897"	"2020-04-11 12:14:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323847"	"00322658"	"1"	"00085"	"00085"	"2019-04-25 10:12:26"	""	""	"SEQ"	"DNA"	""	""
"0000323848"	"00322659"	"1"	"01819"	"01819"	"2014-01-21 12:00:36"	"00085"	"2014-09-17 14:36:40"	"PCR;SEQ"	"DNA"	""	""
"0000323849"	"00322660"	"1"	"03870"	"03870"	"2017-03-23 12:53:03"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323850"	"00322661"	"1"	"03894"	"03894"	"2018-09-26 13:32:11"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323851"	"00322662"	"1"	"03879"	"03879"	"2014-12-08 20:34:55"	"00085"	"2015-08-07 15:58:13"	"PCR;SEQ"	"DNA"	""	""
"0000323852"	"00322663"	"1"	"01819"	"01819"	"2016-11-28 12:03:32"	"01819"	"2016-11-28 12:07:54"	"PCR;SEQ"	"DNA"	""	""
"0000323853"	"00322664"	"1"	"00085"	"00085"	"2009-11-27 16:17:40"	""	""	"?"	"?"	""	""
"0000323854"	"00322665"	"1"	"00085"	"00085"	"2018-08-02 16:14:05"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323855"	"00322666"	"1"	"03897"	"03897"	"2020-03-26 13:55:57"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323856"	"00322667"	"1"	"00085"	"00085"	"2011-06-24 15:42:41"	"00085"	"2012-06-25 10:41:14"	"PCR;SEQ"	"DNA"	""	""
"0000323857"	"00322668"	"1"	"00085"	"00085"	"2018-01-19 08:26:06"	"00085"	"2018-01-19 08:27:37"	"PCR;SEQ"	"DNA"	""	""
"0000323858"	"00322669"	"1"	"03894"	"03894"	"2018-09-25 14:07:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323859"	"00322670"	"1"	"03704"	"00085"	"2008-06-06 15:26:15"	"00085"	"2013-04-24 10:47:46"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000323860"	"00322671"	"1"	"03855"	"03855"	"2009-12-30 10:59:27"	""	""	"SEQ"	"DNA"	""	""
"0000323861"	"00322672"	"1"	"03879"	"03879"	"2014-12-05 08:30:36"	"00085"	"2015-08-07 15:59:12"	"PCR;SEQ"	"DNA"	""	""
"0000323862"	"00322673"	"1"	"03879"	"03879"	"2014-12-05 08:32:28"	"00085"	"2015-08-07 15:59:43"	"PCR;SEQ"	"DNA"	""	""
"0000323863"	"00322674"	"1"	"01819"	"00085"	"2008-03-17 14:26:09"	"00085"	"2014-09-17 14:50:39"	"SEQ;CSGE"	"RNA"	""	""
"0000323864"	"00322675"	"1"	"03879"	"03879"	"2014-12-09 09:10:46"	"00085"	"2015-02-17 08:57:26"	"PCR;SEQ"	"DNA"	""	""
"0000323865"	"00322676"	"1"	"00085"	"00085"	"2008-03-17 14:39:24"	"00085"	"2012-07-09 15:58:23"	"SEQ"	"DNA"	""	""
"0000323866"	"00322677"	"1"	"00475"	"00475"	"2010-01-15 13:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000323867"	"00322678"	"1"	"03870"	"03870"	"2009-09-30 16:32:30"	"00085"	"2013-04-17 10:00:18"	"DHPLC;SEQ"	"DNA"	""	""
"0000323868"	"00322679"	"1"	"03870"	"03870"	"2017-03-23 12:53:52"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323869"	"00322680"	"1"	"03897"	"03897"	"2020-04-11 11:28:02"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323870"	"00322681"	"1"	"03894"	"03894"	"2018-09-27 12:03:42"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323871"	"00322682"	"1"	"03897"	"03897"	"2020-04-11 11:51:01"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323872"	"00322683"	"1"	"01819"	"01819"	"2014-01-21 12:04:14"	"00085"	"2014-09-17 14:40:01"	"PCR;SEQ"	"DNA"	""	""
"0000323873"	"00322684"	"1"	"01819"	"01819"	"2014-01-21 12:06:12"	"00085"	"2014-09-17 14:46:05"	"PCR;SEQ"	"DNA"	""	""
"0000323874"	"00322685"	"1"	"01819"	"01819"	"2014-01-21 12:08:21"	"00085"	"2014-09-17 14:48:00"	"PCR;SEQ"	"DNA"	""	""
"0000323875"	"00322686"	"1"	"01819"	"01819"	"2014-01-21 12:10:26"	"00085"	"2014-09-17 14:52:56"	"PCR;SEQ"	"DNA"	""	""
"0000323876"	"00322687"	"1"	"01819"	"01819"	"2014-01-21 12:27:14"	"00085"	"2014-09-11 14:43:51"	"PCR;SEQ"	"DNA"	""	""
"0000323877"	"00322688"	"1"	"03879"	"03879"	"2014-12-05 14:08:49"	"00085"	"2015-08-07 16:00:31"	"PCR;SEQ"	"DNA"	""	""
"0000323878"	"00322689"	"1"	"03879"	"03879"	"2014-12-05 14:11:08"	"00085"	"2015-08-07 16:01:04"	"PCR;SEQ"	"DNA"	""	""
"0000323879"	"00322690"	"1"	"03879"	"03879"	"2014-12-05 14:13:22"	"00085"	"2015-08-07 16:06:05"	"PCR;SEQ"	"DNA"	""	""
"0000323881"	"00322692"	"1"	"01819"	"01819"	"2014-01-21 12:29:56"	"00085"	"2014-09-11 14:46:00"	"PCR;SEQ"	"DNA"	""	""
"0000323882"	"00322693"	"1"	"03853"	"03853"	"2009-02-06 13:07:04"	""	""	"SEQ"	"DNA"	""	""
"0000323883"	"00322694"	"1"	"03885"	"03885"	"2016-10-04 18:19:25"	""	""	"SEQ"	"DNA"	""	""
"0000323884"	"00322695"	"1"	"03863"	"03863"	"2017-07-11 21:41:14"	""	""	"RT-PCR;SEQ"	"DNA"	""	""
"0000323885"	"00322696"	"1"	"00085"	"00085"	"2008-03-17 14:45:46"	"00085"	"2014-06-17 10:33:21"	"SEQ;CMC"	"RNA"	""	""
"0000323886"	"00322697"	"1"	"03704"	"00085"	"2011-03-30 13:13:06"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323887"	"00322698"	"1"	"03865"	"03865"	"2012-06-23 16:20:08"	"00085"	"2013-10-25 08:37:46"	"PCR;SEQ"	"DNA"	""	""
"0000323888"	"00322699"	"1"	"03853"	"03853"	"2009-04-03 14:04:14"	""	""	"SEQ"	"DNA"	""	""
"0000323889"	"00322700"	"1"	"03863"	"03863"	"2017-07-11 21:43:28"	""	""	"RT-PCR;SEQ"	"DNA"	""	""
"0000323890"	"00322701"	"1"	"03885"	"03885"	"2016-10-04 18:24:41"	""	""	"SEQ"	"DNA"	""	""
"0000323891"	"00322702"	"1"	"03894"	"03894"	"2018-09-27 13:53:04"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323892"	"00322703"	"1"	"01819"	"01819"	"2014-01-21 12:33:03"	"00085"	"2014-09-11 14:47:40"	"PCR;SEQ"	"DNA"	""	""
"0000323893"	"00322704"	"1"	"00085"	"00085"	"2014-10-08 13:09:54"	""	""	"SEQ-NG"	"DNA"	""	""
"0000323895"	"00322706"	"1"	"03894"	"03894"	"2018-09-27 11:23:29"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323896"	"00322707"	"1"	"03865"	"03865"	"2012-06-24 02:34:50"	"00085"	"2013-10-25 09:07:39"	"PCR;SEQ;MS"	"DNA"	""	""
"0000323897"	"00322708"	"1"	"03863"	"03863"	"2017-07-11 21:45:44"	""	""	"RT-PCR;SEQ"	"DNA"	""	""
"0000323899"	"00322710"	"1"	"00085"	"00085"	"2015-10-01 14:26:45"	""	""	"?"	"?"	""	""
"0000323900"	"00322711"	"1"	"03865"	"03865"	"2012-06-24 02:37:39"	"00085"	"2013-10-25 09:10:18"	"PCR;SEQ;MS"	"DNA"	""	""
"0000323901"	"00322712"	"1"	"01819"	"01819"	"2014-02-11 10:22:06"	"00085"	"2014-09-17 13:17:11"	"PCR;SEQ"	"DNA"	""	""
"0000323902"	"00322713"	"1"	"03704"	"00085"	"2008-03-17 14:53:34"	"00085"	"2014-06-26 15:07:45"	"SEQ;SSCA"	"RNA"	""	""
"0000323903"	"00322714"	"1"	"01819"	"01819"	"2014-02-11 10:23:52"	"00085"	"2014-09-11 14:49:04"	"PCR;SEQ"	"DNA"	""	""
"0000323904"	"00322715"	"1"	"03879"	"03879"	"2014-12-09 12:56:53"	"00085"	"2015-08-07 16:07:22"	"PCR;SEQ"	"DNA"	""	""
"0000323905"	"00322716"	"1"	"03879"	"03879"	"2014-12-09 12:57:52"	"00085"	"2015-08-07 16:08:11"	"PCR;SEQ"	"DNA"	""	""
"0000323906"	"00322717"	"1"	"00085"	"00085"	"2009-04-21 11:59:30"	"00085"	"2013-03-18 16:01:13"	"PCR;SEQ"	"DNA"	""	""
"0000323907"	"00322718"	"1"	"01819"	"01819"	"2014-02-11 10:25:26"	"00085"	"2014-09-17 14:59:43"	"PCR;SEQ"	"DNA"	""	""
"0000323908"	"00322719"	"1"	"03870"	"03870"	"2010-09-28 11:04:25"	"00085"	"2013-04-22 11:14:51"	"DHPLC;SEQ"	"DNA"	""	""
"0000323909"	"00322720"	"1"	"03870"	"03870"	"2017-03-23 12:54:55"	""	""	"SEQ"	"DNA"	""	""
"0000323910"	"00322721"	"1"	"03870"	"03870"	"2017-03-23 12:55:37"	""	""	"SEQ"	"DNA"	""	""
"0000323911"	"00322722"	"1"	"03870"	"03870"	"2017-03-23 12:56:22"	""	""	"SEQ"	"DNA"	""	""
"0000323912"	"00322723"	"1"	"03861"	"03861"	"2012-03-30 12:55:26"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000323913"	"00322724"	"1"	"00085"	"00085"	"2008-03-17 15:16:45"	"00085"	"2020-04-22 11:55:37"	"SEQ;CMC"	"RNA"	""	""
"0000323914"	"00322725"	"1"	"03704"	"00085"	"2008-03-17 15:33:59"	"00085"	"2014-03-19 14:59:10"	"DGGE;SEQ"	"DNA"	""	""
"0000323915"	"00322726"	"1"	"00085"	"00085"	"2008-06-06 15:38:55"	"00085"	"2012-07-10 14:59:31"	"CMC;RT-PCR;SEQ"	"RNA"	""	""
"0000323916"	"00322727"	"1"	"00085"	"00085"	"2008-03-18 08:19:33"	"00085"	"2013-04-24 10:23:45"	"CSGE;SEQ"	"DNA"	""	""
"0000323917"	"00322728"	"1"	"03885"	"03885"	"2016-10-04 19:11:47"	""	""	"SEQ"	"DNA"	""	""
"0000323918"	"00322729"	"1"	"01819"	"01819"	"2014-01-21 12:12:34"	"00085"	"2014-09-18 14:41:55"	"PCR;SEQ"	"DNA"	""	""
"0000323919"	"00322730"	"1"	"03861"	"03861"	"2010-06-08 11:46:55"	"00085"	"2010-06-08 13:04:15"	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323920"	"00322731"	"1"	"03862"	"03862"	"2012-02-08 15:37:52"	""	""	"SEQ"	"DNA"	""	""
"0000323921"	"00322732"	"1"	"00085"	"00085"	"2016-02-16 09:05:39"	"00085"	"2016-02-16 09:14:35"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000323922"	"00322733"	"1"	"03885"	"03885"	"2016-10-04 19:24:12"	"00085"	"2017-03-14 08:05:12"	"SEQ-NG"	"DNA"	""	""
"0000323923"	"00322734"	"1"	"00085"	"00085"	"2008-06-06 15:56:22"	"00085"	"2014-06-17 10:31:55"	"RT-PCR;SEQ;CMC"	"RNA"	""	""
"0000323924"	"00322735"	"1"	"01819"	"01819"	"2014-01-21 12:14:58"	"00085"	"2014-09-17 15:04:27"	"PCR;SEQ"	"DNA"	""	""
"0000323925"	"00322736"	"1"	"03894"	"03894"	"2018-09-27 10:40:15"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000323926"	"00322737"	"1"	"03853"	"03853"	"2009-08-28 15:26:16"	"00085"	"2017-06-27 09:27:12"	"SEQ"	"DNA"	""	""
"0000323927"	"00322738"	"1"	"00085"	"00085"	"2017-06-27 09:29:16"	""	""	"SEQ"	"DNA"	""	""
"0000323928"	"00322739"	"1"	"03865"	"03865"	"2012-06-24 02:39:39"	"00085"	"2013-10-25 09:05:43"	"PCR;SEQ;MS"	"DNA"	""	""
"0000323929"	"00322740"	"1"	"00085"	"00085"	"2016-06-14 13:46:58"	"00085"	"2016-06-14 13:48:10"	"PCR;SEQ"	"DNA"	""	""
"0000323930"	"00322741"	"1"	"03885"	"03885"	"2016-10-04 19:15:50"	""	""	"SEQ"	"DNA"	""	""
"0000323931"	"00322742"	"1"	"00085"	"00085"	"2008-06-06 15:45:14"	"00085"	"2014-06-26 15:13:47"	"PCR;SEQ"	"DNA"	""	""
"0000323932"	"00322743"	"1"	"03855"	"03855"	"2009-12-30 12:04:40"	"00085"	"2010-04-07 09:18:06"	"SEQ"	"DNA"	""	""
"0000323933"	"00322744"	"1"	"03853"	"03853"	"2009-08-28 15:16:29"	""	""	"SEQ"	"DNA"	""	""
"0000323934"	"00322745"	"1"	"03885"	"03885"	"2016-10-04 19:19:20"	""	""	"SEQ"	"DNA"	""	""
"0000323936"	"00322747"	"1"	"03879"	"03879"	"2014-12-05 15:17:28"	"00085"	"2015-08-07 16:08:45"	"PCR;SEQ"	"DNA"	""	""
"0000323937"	"00322748"	"1"	"01819"	"01819"	"2014-01-21 12:16:50"	"00085"	"2014-09-17 15:06:14"	"PCR;SEQ"	"DNA"	""	""
"0000323938"	"00322749"	"1"	"00085"	"00085"	"2009-03-04 16:12:18"	"00085"	"2014-03-19 09:43:52"	"PCR;SEQ"	"DNA"	""	""
"0000323939"	"00322750"	"1"	"00085"	"00085"	"2009-11-27 16:14:08"	""	""	"?"	"?"	""	""
"0000323940"	"00322751"	"1"	"01819"	"01819"	"2014-01-21 13:14:49"	"00085"	"2014-09-17 13:15:11"	"PCR;SEQ"	"DNA"	""	""
"0000323941"	"00322752"	"1"	"00085"	"00085"	"2011-08-15 10:04:30"	"00085"	"2011-08-15 10:05:35"	"PCR;SEQ"	"DNA"	""	""
"0000323942"	"00322753"	"1"	"00085"	"00085"	"2008-03-18 08:24:16"	"00085"	"2014-06-17 10:34:31"	"SEQ;CMC"	"RNA"	""	""
"0000323944"	"00322755"	"1"	"00085"	"00085"	"2009-11-27 16:12:10"	""	""	"?"	"?"	""	""
"0000323945"	"00322756"	"1"	"00085"	"00085"	"2009-03-04 16:27:24"	"00085"	"2014-03-19 09:45:52"	"PCR;SEQ"	"DNA"	""	""
"0000323946"	"00322757"	"1"	"03855"	"03855"	"2009-12-30 10:08:29"	"00085"	"2010-03-31 16:43:23"	"SEQ"	"DNA"	""	""
"0000323947"	"00322758"	"1"	"01819"	"01819"	"2013-04-17 09:56:16"	"00085"	"2014-02-05 14:39:34"	"PCR;SEQ"	"DNA"	""	""
"0000323948"	"00322759"	"1"	"00085"	"00085"	"2017-01-16 11:36:37"	"00085"	"2017-01-16 11:38:07"	"PCR;SEQ"	"DNA"	""	""
"0000323949"	"00322760"	"1"	"00085"	"00085"	"2014-04-02 10:02:34"	"00085"	"2014-04-02 10:03:34"	"PCR;SEQ"	"DNA"	""	""
"0000323950"	"00322761"	"1"	"00085"	"00085"	"2015-10-01 14:36:54"	""	""	"?"	"?"	""	""
"0000323951"	"00322762"	"1"	"00085"	"00085"	"2008-03-18 08:28:03"	"00085"	"2013-04-24 10:35:24"	"SEQ"	"DNA"	""	""
"0000323952"	"00322763"	"1"	"03704"	"00085"	"2009-02-13 16:10:18"	"00085"	"2013-04-24 09:45:15"	"PCR;SEQ"	"DNA"	""	""
"0000323953"	"00322764"	"1"	"03704"	"00085"	"2011-02-18 08:43:12"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323954"	"00322765"	"1"	"03704"	"00085"	"2011-02-18 08:45:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323955"	"00322766"	"1"	"03865"	"03865"	"2013-08-22 09:54:00"	"00085"	"2013-08-23 13:53:59"	"PCR;SEQ"	"DNA"	""	""
"0000323956"	"00322767"	"1"	"01819"	"01819"	"2016-11-28 11:46:18"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323957"	"00322768"	"1"	"03863"	"03863"	"2017-07-11 21:47:38"	""	""	"RT-PCR;SEQ"	"DNA"	""	""
"0000323958"	"00322769"	"1"	"03704"	"00085"	"2011-03-30 13:31:08"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323959"	"00322770"	"1"	"03879"	"03879"	"2014-12-09 10:15:16"	"00085"	"2015-08-07 16:09:29"	"PCR;SEQ"	"DNA"	""	""
"0000323960"	"00322771"	"1"	"03894"	"03894"	"2018-09-27 14:09:45"	"00006"	"2021-10-30 10:44:54"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000323961"	"00322772"	"1"	"03863"	"03863"	"2017-07-11 21:51:20"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000323962"	"00322773"	"1"	"00085"	"00085"	"2011-08-15 09:36:51"	"00085"	"2012-07-10 15:38:47"	"PCR;SEQ"	"DNA"	""	""
"0000323964"	"00322775"	"1"	"03894"	"03894"	"2018-09-27 13:48:41"	"00006"	"2021-10-30 11:34:48"	"PCR;SEQ;SEQ-NG"	"DNA"	""	"custom gene panel"
"0000323965"	"00322776"	"1"	"03885"	"03885"	"2016-10-04 19:27:54"	""	""	"SEQ"	"DNA"	""	""
"0000323966"	"00322777"	"1"	"03894"	"03894"	"2018-09-27 12:41:31"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323967"	"00322778"	"1"	"00085"	"00085"	"2009-11-27 16:01:06"	""	""	"?"	"?"	""	""
"0000323968"	"00322779"	"1"	"00085"	"00085"	"2009-11-27 16:00:02"	""	""	"?"	"?"	""	""
"0000323969"	"00322780"	"1"	"00085"	"00085"	"2009-11-27 15:57:16"	"00085"	"2010-03-31 16:47:38"	"?"	"?"	""	""
"0000323970"	"00322781"	"1"	"03890"	"03890"	"2018-04-28 10:02:44"	"00085"	"2018-04-28 18:37:19"	"SEQ-NG"	"DNA"	""	""
"0000323971"	"00322782"	"1"	"00085"	"00085"	"2009-03-04 16:31:13"	"00085"	"2014-03-19 09:44:29"	"PCR;SEQ"	"DNA"	""	""
"0000323972"	"00322783"	"1"	"01819"	"01819"	"2014-01-21 12:18:36"	"00085"	"2014-09-17 15:07:57"	"PCR;SEQ"	"DNA"	""	""
"0000323973"	"00322784"	"1"	"00085"	"00085"	"2015-10-01 14:23:37"	""	""	"?"	"?"	""	""
"0000323974"	"00322785"	"1"	"03885"	"03885"	"2016-10-04 19:43:43"	""	""	"SEQ"	"DNA"	""	""
"0000323975"	"00322786"	"1"	"00085"	"00085"	"2011-11-02 10:36:44"	""	""	"DHPLC;PCR;SEQ"	"DNA"	""	""
"0000323976"	"00322787"	"1"	"01819"	"01819"	"2014-02-11 10:26:46"	"00085"	"2014-09-11 14:50:29"	"PCR;SEQ"	"DNA"	""	""
"0000323977"	"00322788"	"1"	"03879"	"03879"	"2014-12-08 10:31:39"	"00085"	"2015-08-07 16:10:53"	"PCR;SEQ"	"DNA"	""	""
"0000323978"	"00322789"	"1"	"00085"	"00085"	"2013-04-11 11:54:52"	"00085"	"2014-06-26 15:05:56"	"SEQ"	"DNA"	""	""
"0000323979"	"00322790"	"1"	"00085"	"00085"	"2015-12-10 08:58:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323980"	"00322791"	"1"	"00085"	"00085"	"2008-03-18 08:32:16"	"00085"	"2014-06-26 15:04:39"	"?"	"?"	""	""
"0000323981"	"00322792"	"1"	"00085"	"00085"	"2009-11-27 15:51:52"	""	""	"?"	"?"	""	""
"0000323982"	"00322793"	"1"	"01819"	"01819"	"2014-01-21 12:35:22"	"00085"	"2014-09-17 13:10:34"	"PCR;SEQ"	"DNA"	""	""
"0000323983"	"00322794"	"1"	"00085"	"00085"	"2009-02-11 10:07:40"	"00085"	"2014-06-26 15:03:22"	"PCR;SEQ"	"DNA"	""	""
"0000323984"	"00322795"	"1"	"03894"	"03894"	"2018-09-27 10:06:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323985"	"00322796"	"1"	"00085"	"00085"	"2008-03-18 08:37:23"	"00085"	"2014-06-26 15:00:11"	"SEQ"	"RNA"	""	""
"0000323986"	"00322797"	"1"	"00085"	"00085"	"2015-10-01 14:17:42"	""	""	"?"	"?"	""	""
"0000323988"	"00322799"	"1"	"00085"	"00085"	"2008-04-11 10:27:36"	"00085"	"2014-01-14 08:38:55"	"PCR;SEQ"	"DNA"	""	""
"0000323989"	"00322800"	"1"	"03894"	"03894"	"2018-09-26 13:48:10"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323990"	"00322801"	"1"	"03863"	"03863"	"2017-07-11 21:53:33"	""	""	"RT-PCR;SEQ"	"DNA"	""	""
"0000323991"	"00322802"	"1"	"01819"	"01819"	"2014-01-21 12:20:33"	"00085"	"2014-09-17 15:11:45"	"PCR;SEQ"	"DNA"	""	""
"0000323992"	"00322803"	"1"	"03879"	"03879"	"2014-12-05 08:55:02"	"00085"	"2015-08-07 16:11:37"	"PCR;SEQ"	"DNA"	""	""
"0000323993"	"00322804"	"1"	"03870"	"03870"	"2017-02-22 09:01:21"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323994"	"00322805"	"1"	"03870"	"03870"	"2017-03-23 12:58:26"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000323995"	"00322806"	"1"	"00085"	"00085"	"2008-06-06 16:05:02"	"00085"	"2014-01-14 08:47:23"	"PCR;SEQ;CSGE"	"DNA"	""	""
"0000323996"	"00322807"	"1"	"03894"	"03894"	"2018-09-27 11:47:48"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000323997"	"00322808"	"1"	"03855"	"03855"	"2009-12-30 10:10:54"	"00085"	"2011-02-01 15:48:29"	"SEQ"	"DNA"	""	""
"0000323998"	"00322809"	"1"	"03867"	"03867"	"2012-12-10 09:24:28"	"03701"	"2020-11-18 12:24:55"	"PCR;SEQ"	"DNA;protein"	""	""
"0000323999"	"00322810"	"1"	"00085"	"00085"	"2018-01-18 13:04:18"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000324000"	"00322811"	"1"	"03897"	"03897"	"2020-04-11 16:08:28"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000324001"	"00322812"	"1"	"03704"	"00085"	"2008-06-06 16:17:20"	"00085"	"2014-06-26 15:21:01"	"PCR;RT-PCR;SEQ;Southern"	"DNA;RNA"	""	""
"0000324002"	"00322813"	"1"	"01819"	"01819"	"2014-01-21 13:17:51"	"00085"	"2014-09-17 13:54:30"	"PCR;SEQ"	"DNA"	""	""
"0000324004"	"00322815"	"1"	"03885"	"03885"	"2016-10-04 19:55:13"	""	""	"SEQ"	"DNA"	""	""
"0000324005"	"00322816"	"1"	"03894"	"03894"	"2018-09-27 10:31:08"	"00006"	"2021-10-30 10:44:54"	"SEQ-NG;PCR;SEQ"	"DNA"	""	"custom gene panel"
"0000324006"	"00322817"	"1"	"03894"	"03894"	"2018-09-27 12:08:32"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000324007"	"00322818"	"1"	"03885"	"03885"	"2016-10-04 19:58:13"	"00085"	"2017-03-14 08:13:36"	"SEQ"	"DNA"	""	""
"0000324008"	"00322819"	"1"	"03879"	"03879"	"2014-12-08 16:45:53"	"00085"	"2015-08-07 16:12:15"	"PCR;SEQ"	"DNA"	""	""
"0000324009"	"00322820"	"1"	"03871"	"03871"	"2013-09-16 14:40:33"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000324010"	"00322821"	"1"	"00085"	"00085"	"2008-03-18 09:27:30"	"00085"	"2014-06-27 09:06:39"	"SEQ;CMC"	"RNA"	""	""
"0000324011"	"00322822"	"1"	"00085"	"00085"	"2018-01-18 12:43:20"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000324504"	"00323315"	"1"	"03894"	"03894"	"2018-09-27 13:29:39"	"03894"	"2018-09-28 07:00:44"	"PCR;SEQ"	"DNA"	""	""
"0000324985"	"00323796"	"1"	"03894"	"03894"	"2018-09-27 12:21:59"	"00085"	"2019-09-11 15:25:42"	"PCR;SEQ"	"DNA"	""	""
"0000328629"	"00327417"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328630"	"00327418"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328631"	"00327419"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328632"	"00327420"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328633"	"00327421"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328634"	"00327422"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328635"	"00327423"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328636"	"00327424"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328637"	"00327425"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328638"	"00327426"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328639"	"00327427"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328640"	"00327428"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328641"	"00327429"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328642"	"00327430"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328643"	"00327431"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328644"	"00327432"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328645"	"00327433"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328646"	"00327434"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328647"	"00327435"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328648"	"00327436"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328649"	"00327437"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328650"	"00327438"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000328667"	"00327455"	"1"	"00006"	"00006"	"2021-01-21 13:10:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"57-gene panel"
"0000332586"	"00331367"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332587"	"00331368"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332588"	"00331369"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332589"	"00331370"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332590"	"00331371"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360601"	"00359359"	"1"	"01396"	"01396"	"2021-03-19 18:37:17"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000360602"	"00359360"	"1"	"01396"	"01396"	"2021-03-19 18:40:58"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000360603"	"00359361"	"1"	"01396"	"01396"	"2021-03-19 18:44:33"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000360604"	"00359362"	"1"	"01396"	"01396"	"2021-03-19 18:47:47"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000360628"	"00359386"	"1"	"01396"	"01396"	"2021-03-19 18:51:55"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000360629"	"00359387"	"1"	"01396"	"01396"	"2021-03-19 18:58:39"	""	""	"SEQ-NG-IT"	"DNA"	""	""
"0000360630"	"00359388"	"1"	"01396"	"01396"	"2021-03-19 19:04:02"	""	""	"SEQ-NG-IT"	"DNA"	""	""
"0000360631"	"00359389"	"1"	"01396"	"01396"	"2021-03-19 19:07:40"	""	""	"SEQ-NG-IT"	"DNA"	""	""
"0000360632"	"00359390"	"1"	"01396"	"01396"	"2021-03-19 19:11:15"	""	""	"SEQ-NG-IT"	"DNA"	""	""
"0000360884"	"00359654"	"1"	"00006"	"00006"	"2021-04-03 16:29:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360885"	"00359655"	"1"	"00006"	"00006"	"2021-04-03 16:29:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364989"	"00363761"	"1"	"04060"	"04060"	"2021-04-29 17:23:58"	""	""	"SEQ-NG"	"RNA"	""	""
"0000375320"	"00374127"	"1"	"00006"	"00006"	"2021-05-23 14:33:57"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378342"	"00377137"	"1"	"01164"	"01164"	"2021-07-07 16:11:09"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000387147"	"00385919"	"1"	"00006"	"00006"	"2021-10-18 13:33:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"disease gene panel"
"0000389498"	"00388259"	"1"	"00085"	"00085"	"2021-11-03 11:34:24"	""	""	"SEQ"	"DNA"	"blood"	""
"0000394679"	"00393431"	"1"	"01164"	"01164"	"2021-11-29 14:59:28"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000398594"	"00397354"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398596"	"00397356"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398597"	"00397357"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398598"	"00397358"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398599"	"00397359"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398600"	"00397360"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398601"	"00397361"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398602"	"00397362"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398605"	"00397365"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398609"	"00397369"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398610"	"00397370"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398611"	"00397371"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398614"	"00397374"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398616"	"00397376"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000398618"	"00397378"	"1"	"00006"	"00006"	"2021-12-20 15:54:33"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000400532"	"00399289"	"1"	"00006"	"00006"	"2022-01-18 21:42:27"	""	""	"SEQ"	"DNA"	""	""
"0000400533"	"00399290"	"1"	"00006"	"00006"	"2022-01-18 21:45:46"	""	""	"SEQ"	"DNA"	""	""
"0000400535"	"00399292"	"1"	"00006"	"00006"	"2022-01-18 21:54:54"	""	""	"SEQ"	"DNA"	""	""
"0000410398"	"00409134"	"1"	"03897"	"03897"	"2022-05-03 10:00:44"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"700 genes analysed, 19 OI genes (COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1, PPIB, SERPINH1, FKBP10, BMP1, PLOD2, SP7, TMEM38B, WNT1, CREB3H1, SPARC, PLS3, P4HB, SEC24D)"
"0000412791"	"00411521"	"1"	"00085"	"00085"	"2022-06-14 16:22:52"	""	""	"SEQ-NG-R"	"DNA"	"blood"	"WES"
"0000414721"	"00413444"	"1"	"00006"	"00006"	"2022-07-18 17:04:47"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000414722"	"00413445"	"1"	"00006"	"00006"	"2022-07-18 17:04:47"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000414723"	"00413446"	"1"	"00006"	"00006"	"2022-07-18 17:04:47"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000414724"	"00413447"	"1"	"00006"	"00006"	"2022-07-18 17:04:47"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000417674"	"00416394"	"1"	"04298"	"04298"	"2022-08-30 09:33:52"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417675"	"00416395"	"1"	"04298"	"04298"	"2022-08-30 09:54:09"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417676"	"00416396"	"1"	"04298"	"04298"	"2022-08-30 10:04:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417677"	"00416397"	"1"	"04298"	"04298"	"2022-08-30 10:38:45"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417678"	"00416398"	"1"	"04298"	"04298"	"2022-08-30 10:43:36"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417679"	"00416399"	"1"	"04298"	"04298"	"2022-08-30 10:52:07"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel>700 genes associated with genetic bone disorders"
"0000417680"	"00416400"	"1"	"04298"	"04298"	"2022-08-30 10:59:02"	""	""	"SEQ-NG"	"DNA"	"blood"	"panal >700 genes associated with genetic bone disorders"
"0000417681"	"00416401"	"1"	"04298"	"04298"	"2022-08-30 11:04:19"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417682"	"00416402"	"1"	"04298"	"04298"	"2022-08-30 11:09:20"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417683"	"00416403"	"1"	"04298"	"04298"	"2022-08-30 11:16:05"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel>700 genes associated with genetic bone disorders"
"0000417684"	"00416404"	"1"	"04298"	"04298"	"2022-08-30 11:20:13"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417685"	"00416405"	"1"	"04298"	"04298"	"2022-08-30 11:27:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417686"	"00416406"	"1"	"04298"	"04298"	"2022-08-30 11:32:18"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417687"	"00416407"	"1"	"04298"	"04298"	"2022-08-30 11:38:19"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417688"	"00416408"	"1"	"04298"	"04298"	"2022-08-30 11:41:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417689"	"00416409"	"1"	"04298"	"04298"	"2022-08-30 11:49:12"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417690"	"00416410"	"1"	"04298"	"04298"	"2022-08-30 12:54:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417691"	"00416411"	"1"	"04298"	"04298"	"2022-08-30 12:58:53"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417692"	"00416412"	"1"	"04298"	"04298"	"2022-08-30 13:02:36"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417693"	"00416413"	"1"	"04298"	"04298"	"2022-08-30 13:05:36"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel>700 genes associated with genetic bone disorders"
"0000417694"	"00416414"	"1"	"04298"	"04298"	"2022-08-30 13:08:29"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417695"	"00416415"	"1"	"04298"	"04298"	"2022-08-30 13:13:58"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417696"	"00416416"	"1"	"04298"	"04298"	"2022-08-30 13:17:14"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417697"	"00416417"	"1"	"04298"	"04298"	"2022-08-30 13:23:54"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417698"	"00416418"	"1"	"04298"	"04298"	"2022-08-30 13:26:52"	""	""	"SEQ-NG"	"DNA"	"blood"	"Panel >700 genes associated with genetic bone disorders"
"0000417699"	"00416419"	"1"	"04298"	"04298"	"2022-08-30 13:32:00"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417700"	"00416420"	"1"	"04298"	"04298"	"2022-08-30 13:34:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417701"	"00416421"	"1"	"04298"	"04298"	"2022-08-30 13:40:20"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417702"	"00416422"	"1"	"04298"	"04298"	"2022-08-30 13:42:51"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417703"	"00416423"	"1"	"04298"	"04298"	"2022-08-30 13:46:33"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel >700 genes associated with genetic bone disorders"
"0000417704"	"00416424"	"1"	"04298"	"04298"	"2022-08-30 13:57:19"	""	""	"SEQ-NG"	"DNA"	""	"panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417705"	"00416425"	"1"	"04298"	"04298"	"2022-08-30 14:02:27"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417706"	"00416426"	"1"	"04298"	"04298"	"2022-08-30 14:05:55"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417707"	"00416427"	"1"	"04298"	"04298"	"2022-08-30 14:11:33"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417708"	"00416428"	"1"	"04298"	"04298"	"2022-08-30 14:18:46"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417709"	"00416429"	"1"	"04298"	"04298"	"2022-08-30 14:21:13"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417710"	"00416430"	"1"	"04298"	"04298"	"2022-08-30 14:23:43"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417711"	"00416431"	"1"	"04298"	"04298"	"2022-08-30 14:51:06"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417712"	"00416432"	"1"	"04298"	"04298"	"2022-08-30 14:53:51"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000417713"	"00416433"	"1"	"04298"	"04298"	"2022-08-30 14:57:23"	""	""	"SEQ-NG"	"DNA"	""	"capture panel for sequencing 15 candidate OI genes and 19 candidate genes that are associated with bone fragility or Wnt signaling"
"0000418299"	"00417019"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418300"	"00417020"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418308"	"00417028"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418313"	"00417033"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418342"	"00417062"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418351"	"00417071"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418361"	"00417081"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418368"	"00417088"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418370"	"00417090"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418371"	"00417091"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418373"	"00417093"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418376"	"00417096"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418377"	"00417097"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418379"	"00417099"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418381"	"00417101"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418393"	"00417113"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418394"	"00417114"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418405"	"00417125"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418411"	"00417131"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418414"	"00417134"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418417"	"00417137"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418419"	"00417139"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418423"	"00417143"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418426"	"00417146"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418433"	"00417153"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418434"	"00417154"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418437"	"00417157"	"1"	"02544"	"00006"	"2022-09-12 19:16:10"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000418873"	"00417578"	"1"	"01741"	"01741"	"2022-09-20 12:15:35"	""	""	"SEQ-NG"	"DNA"	""	""
"0000419824"	"00418529"	"1"	"00006"	"00006"	"2022-09-29 19:58:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000420800"	"00419496"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"clinical exome sequencing"
"0000420801"	"00419497"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000420802"	"00419498"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"clinical exome sequencing"
"0000420914"	"00419610"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000429145"	"00427822"	"1"	"03145"	"03145"	"2022-12-14 03:57:53"	""	""	"SEQ-NG-I"	"DNA"	"amniotic fluid"	"WES"
"0000429195"	"00427873"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429196"	"00427874"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429197"	"00427875"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429198"	"00427876"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429199"	"00427877"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429200"	"00427878"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429201"	"00427879"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429202"	"00427880"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429203"	"00427881"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429204"	"00427882"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429205"	"00427883"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429206"	"00427884"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429207"	"00427885"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429208"	"00427886"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429209"	"00427887"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429210"	"00427888"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429211"	"00427889"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429212"	"00427890"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429213"	"00427891"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429214"	"00427892"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429215"	"00427893"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429216"	"00427894"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429217"	"00427895"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429218"	"00427896"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429219"	"00427897"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429220"	"00427898"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429221"	"00427899"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429222"	"00427900"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429223"	"00427901"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429224"	"00427902"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429225"	"00427903"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429226"	"00427904"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429227"	"00427905"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429228"	"00427906"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429229"	"00427907"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429230"	"00427908"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429231"	"00427909"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429232"	"00427910"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429233"	"00427911"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429234"	"00427912"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429235"	"00427913"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429236"	"00427914"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429237"	"00427915"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429238"	"00427916"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429239"	"00427917"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429240"	"00427918"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429241"	"00427919"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429242"	"00427920"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429243"	"00427921"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429244"	"00427922"	"1"	"03820"	"00006"	"2022-12-17 10:17:17"	""	""	"SEQ-NG"	"DNA"	""	""
"0000429462"	"00428049"	"1"	"04419"	"04419"	"2022-12-20 02:48:30"	""	""	"PCR"	"DNA"	"Peripheral blood"	""
"0000431704"	"00430290"	"1"	"04419"	"04419"	"2023-01-17 05:22:22"	""	""	"SEQ-NG-I"	"DNA"	"Peripheral blood"	"WGS"
"0000432562"	"00431151"	"1"	"04305"	"04305"	"2023-01-30 20:32:31"	""	""	"SEQ-NG-I"	"DNA"	"Leukocyte DNA"	"Short stature gene panel"
"0000432563"	"00431152"	"1"	"04305"	"04305"	"2023-01-30 21:21:07"	""	""	"SEQ-NG-I"	"DNA"	"Leukocyte DNA"	""
"0000432564"	"00431153"	"1"	"04305"	"04305"	"2023-01-30 21:32:35"	""	""	"SEQ-NG-I"	"DNA"	"Leukocyte DNA"	""
"0000432565"	"00431154"	"1"	"04305"	"04305"	"2023-01-30 21:40:41"	""	""	"SEQ-NG-I"	"DNA"	"Leukocyte DNA"	""
"0000432759"	"00431346"	"1"	"04465"	"04465"	"2023-02-09 11:28:02"	""	""	"SEQ-NG"	"DNA"	"Amniotic fluid"	"targeted next-generation sequencing"
"0000432760"	"00431347"	"1"	"04465"	"04465"	"2023-02-09 11:45:08"	""	""	"SEQ-NG"	"DNA"	"Amniotic fluid"	"targeted next-generation sequencing"
"0000432800"	"00431387"	"1"	"04465"	"04465"	"2023-02-10 13:20:07"	""	""	"SEQ-NG"	"DNA"	"Blood"	"Whole-exome sequencing (WES)"
"0000432833"	"00431418"	"1"	"04465"	"04465"	"2023-02-13 11:22:02"	""	""	"SEQ-NG"	"DNA"	"Blood"	"WES"
"0000432957"	"00431537"	"1"	"04465"	"04465"	"2023-02-14 14:47:32"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432959"	"00431538"	"1"	"04465"	"04465"	"2023-02-14 15:10:18"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432962"	"00431539"	"1"	"04465"	"04465"	"2023-02-14 15:32:57"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432966"	"00431541"	"1"	"04465"	"04465"	"2023-02-14 15:47:46"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432970"	"00431545"	"1"	"04465"	"04465"	"2023-02-14 15:57:18"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432971"	"00431546"	"1"	"04465"	"04465"	"2023-02-14 16:06:54"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432972"	"00431547"	"1"	"04465"	"04465"	"2023-02-14 16:12:56"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432973"	"00431548"	"1"	"04465"	"04465"	"2023-02-14 16:16:53"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432976"	"00431551"	"1"	"04465"	"04465"	"2023-02-14 16:55:58"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000432977"	"00431552"	"1"	"04465"	"04465"	"2023-02-14 16:59:37"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000433209"	"00431776"	"1"	"04465"	"04465"	"2023-02-16 10:53:05"	""	""	"SEQ-NG"	"DNA"	"blood"	"Exome sequencing analysis"
"0000433224"	"00431785"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433248"	"00431809"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433249"	"00431810"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433250"	"00431811"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433252"	"00431813"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433253"	"00431814"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433254"	"00431815"	"1"	"04136"	"00006"	"2023-02-16 14:19:17"	""	""	"SEQ;SEQ-NG"	"DNA"	"blood"	""
"0000433275"	"00431836"	"1"	"04465"	"04465"	"2023-02-16 16:27:10"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000433509"	"00432069"	"1"	"04465"	"04465"	"2023-02-20 11:02:21"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"TruSeq lirary preparation kit, NextSeq sequencer, Illumina, France"
"0000433650"	"00432210"	"1"	"04465"	"04465"	"2023-02-20 13:31:31"	"04465"	"2023-02-20 13:34:40"	"SEQ-NG"	"DNA"	"umbilical cord"	"Whole Exome Sequencing (WES)"
"0000433651"	"00432211"	"1"	"04465"	"04465"	"2023-02-20 13:37:02"	""	""	"SEQ-NG"	"DNA"	"umbilical cord"	"Whole Exome Sequencing (WES)"
"0000433657"	"00432217"	"1"	"04465"	"04465"	"2023-02-20 14:12:31"	""	""	"SEQ-NG"	"DNA"	"periheral blood"	"Whole Exome Sequencing (WES)"
"0000433658"	"00432218"	"1"	"04465"	"04465"	"2023-02-20 14:36:12"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433659"	"00432219"	"1"	"04465"	"04465"	"2023-02-20 14:44:09"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433660"	"00432220"	"1"	"04465"	"04465"	"2023-02-20 14:48:17"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433661"	"00432221"	"1"	"04465"	"04465"	"2023-02-20 14:52:29"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433662"	"00432222"	"1"	"04465"	"04465"	"2023-02-20 14:57:37"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433663"	"00432223"	"1"	"04465"	"04465"	"2023-02-20 15:05:20"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433664"	"00432224"	"1"	"04465"	"04465"	"2023-02-20 15:08:45"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433665"	"00432225"	"1"	"04465"	"04465"	"2023-02-20 15:13:39"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433666"	"00432226"	"1"	"04465"	"04465"	"2023-02-20 15:17:12"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433667"	"00432227"	"1"	"04465"	"04465"	"2023-02-20 15:26:04"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433668"	"00432228"	"1"	"04465"	"04465"	"2023-02-20 15:33:00"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433669"	"00432229"	"1"	"04465"	"04465"	"2023-02-20 15:36:42"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433670"	"00432230"	"1"	"04465"	"04465"	"2023-02-20 15:42:02"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433671"	"00432231"	"1"	"04465"	"04465"	"2023-02-20 15:44:37"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433811"	"00432371"	"1"	"04465"	"04465"	"2023-02-22 11:41:44"	""	""	"SEQ-NG"	"DNA"	""	""
"0000433812"	"00432372"	"1"	"04465"	"04465"	"2023-02-22 11:46:24"	"04465"	"2023-02-22 11:49:58"	"SEQ"	"DNA"	""	""
"0000433813"	"00432373"	"1"	"04465"	"04465"	"2023-02-22 11:53:17"	""	""	"SEQ"	"DNA"	""	""
"0000433922"	"00432480"	"1"	"04465"	"04465"	"2023-02-23 11:21:37"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433923"	"00432481"	"1"	"04465"	"04465"	"2023-02-23 11:26:01"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433924"	"00432482"	"1"	"04465"	"04465"	"2023-02-23 11:30:32"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433925"	"00432483"	"1"	"04465"	"04465"	"2023-02-23 11:36:37"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433926"	"00432484"	"1"	"04465"	"04465"	"2023-02-23 11:40:33"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000433975"	"00432533"	"1"	"04465"	"04465"	"2023-02-24 12:02:25"	""	""	"SEQ-NG"	"DNA"	"periheral blood"	"Whole Exome Sequencing (WES)"
"0000433976"	"00432534"	"1"	"04465"	"04465"	"2023-02-24 13:13:01"	""	""	"SEQ-NG"	"DNA"	"periheral blood"	"Whole Exome Sequencing (WES)"
"0000434390"	"00432946"	"1"	"04465"	"04465"	"2023-02-27 13:05:07"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000434895"	"00433440"	"1"	"04465"	"04465"	"2023-03-09 14:20:13"	""	""	"SEQ-NG"	"DNA"	"amniotic fluid, umbilical cord"	"WES"
"0000434896"	"00433441"	"1"	"04465"	"04465"	"2023-03-09 14:26:16"	""	""	"SEQ-NG"	"DNA"	"amniotic fluid, umbilical cord"	"WES"
"0000435139"	"00433681"	"1"	"04465"	"04465"	"2023-03-13 10:00:10"	""	""	"SEQ-NG"	"DNA"	"amniotic fluid, umbilical cord"	"Whole Exome Sequencing (WES)"
"0000435589"	"00434122"	"1"	"04465"	"04465"	"2023-03-20 14:06:37"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000435590"	"00434123"	"1"	"04465"	"04465"	"2023-03-20 14:14:08"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000435591"	"00434124"	"1"	"04465"	"04465"	"2023-03-20 14:20:22"	""	""	"SEQ-NG"	"DNA"	"whole venous blood"	""
"0000436383"	"00434910"	"1"	"04465"	"04465"	"2023-04-13 16:35:59"	""	""	"SEQ-NG"	"DNA"	""	"Whole Exome Sequencing (WES)"
"0000436480"	"00435007"	"1"	"04465"	"04465"	"2023-04-19 16:25:37"	""	""	"SEQ-NG"	"DNA"	""	""
"0000436481"	"00435008"	"1"	"04465"	"04465"	"2023-04-19 16:27:56"	""	""	"SEQ-NG"	"DNA"	""	""
"0000436482"	"00435009"	"1"	"04465"	"04465"	"2023-04-19 16:29:55"	""	""	"SEQ-NG"	"DNA"	""	""
"0000436483"	"00435010"	"1"	"04465"	"04465"	"2023-04-19 16:32:27"	""	""	"SEQ-NG"	"DNA"	""	""
"0000436562"	"00435090"	"1"	"04419"	"04419"	"2023-05-07 22:05:28"	""	""	"SEQ-NG"	"DNA"	"Peripheral blood"	""
"0000454530"	"00452926"	"1"	"03544"	"03544"	"2024-08-02 06:24:58"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000455356"	"00453744"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455357"	"00453745"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455383"	"00453771"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455403"	"00453791"	"1"	"00006"	"00006"	"2024-09-11 19:50:28"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000461063"	"00459438"	"1"	"00085"	"00085"	"2025-01-02 11:32:06"	""	""	"SEQ-NG"	"DNA"	""	""
"0000468378"	"00466714"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468379"	"00466715"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468380"	"00466716"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468381"	"00466717"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468382"	"00466718"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468383"	"00466719"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468384"	"00466720"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468385"	"00466721"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468386"	"00466722"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468387"	"00466723"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468388"	"00466724"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468389"	"00466725"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468390"	"00466726"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468391"	"00466727"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468392"	"00466728"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468393"	"00466729"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468394"	"00466730"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468395"	"00466731"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468396"	"00466732"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468397"	"00466733"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468398"	"00466734"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468399"	"00466735"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468400"	"00466736"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468401"	"00466737"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468402"	"00466738"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468403"	"00466739"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468404"	"00466740"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468405"	"00466741"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468406"	"00466742"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468407"	"00466743"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468408"	"00466744"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468409"	"00466745"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468410"	"00466746"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468411"	"00466747"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468412"	"00466748"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468413"	"00466749"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468414"	"00466750"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468415"	"00466751"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468416"	"00466752"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468417"	"00466753"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468418"	"00466754"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468419"	"00466755"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468420"	"00466756"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468421"	"00466757"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468422"	"00466758"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468423"	"00466759"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468424"	"00466760"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468425"	"00466761"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468426"	"00466762"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468427"	"00466763"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468428"	"00466764"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000468429"	"00466765"	"1"	"00006"	"00006"	"2025-09-24 08:32:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2701
"{{screeningid}}"	"{{geneid}}"
"0000050644"	"COL1A1"
"0000080074"	"COL1A1"
"0000106373"	"MBTPS2"
"0000132897"	"COL1A1"
"0000132897"	"COL1A2"
"0000155260"	"COL1A1"
"0000174795"	"COL1A1"
"0000235169"	"COL1A1"
"0000235170"	"COL1A1"
"0000235171"	"COL1A1"
"0000235172"	"COL1A1"
"0000235173"	"COL1A1"
"0000235174"	"COL1A1"
"0000235175"	"COL1A1"
"0000235176"	"COL1A1"
"0000235177"	"COL1A1"
"0000235178"	"COL1A1"
"0000235179"	"COL1A1"
"0000235180"	"COL1A1"
"0000235181"	"COL1A1"
"0000235182"	"COL1A1"
"0000235183"	"COL1A1"
"0000235184"	"COL1A1"
"0000235185"	"COL1A1"
"0000235186"	"COL1A1"
"0000235187"	"COL1A1"
"0000235188"	"COL1A1"
"0000235189"	"COL1A1"
"0000235190"	"COL1A1"
"0000235191"	"COL1A1"
"0000235192"	"COL1A1"
"0000235193"	"COL1A1"
"0000235194"	"COL1A1"
"0000235195"	"COL1A1"
"0000235196"	"COL1A1"
"0000235197"	"COL1A1"
"0000235198"	"COL1A1"
"0000235199"	"COL1A1"
"0000235200"	"COL1A1"
"0000235201"	"COL1A1"
"0000235202"	"COL1A1"
"0000235203"	"COL1A1"
"0000235204"	"COL1A1"
"0000235205"	"COL1A1"
"0000235206"	"COL1A1"
"0000235207"	"COL1A1"
"0000235208"	"COL1A1"
"0000235209"	"COL1A1"
"0000235210"	"COL1A1"
"0000235211"	"COL1A1"
"0000235212"	"COL1A1"
"0000235213"	"COL1A1"
"0000235214"	"COL1A1"
"0000235215"	"COL1A1"
"0000235216"	"COL1A1"
"0000235217"	"COL1A1"
"0000235218"	"COL1A1"
"0000235219"	"COL1A1"
"0000235220"	"COL1A1"
"0000235221"	"COL1A1"
"0000235222"	"COL1A1"
"0000235223"	"COL1A1"
"0000235224"	"COL1A1"
"0000235225"	"COL1A1"
"0000235226"	"COL1A1"
"0000235227"	"COL1A1"
"0000235228"	"COL1A1"
"0000235229"	"COL1A1"
"0000235230"	"COL1A1"
"0000235231"	"COL1A1"
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"0000321924"	"COL1A1"
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"0000321926"	"COL1A1"
"0000321927"	"COL1A1"
"0000321928"	"COL1A1"
"0000321929"	"COL1A1"
"0000321930"	"COL1A1"
"0000321931"	"COL1A1"
"0000321932"	"COL1A1"
"0000321933"	"COL1A1"
"0000321934"	"COL1A1"
"0000321935"	"COL1A1"
"0000321936"	"COL1A1"
"0000321937"	"COL1A1"
"0000321938"	"COL1A1"
"0000321939"	"COL1A1"
"0000321940"	"COL1A1"
"0000321941"	"COL1A1"
"0000321942"	"COL1A1"
"0000321943"	"COL1A1"
"0000321944"	"COL1A1"
"0000321945"	"COL1A1"
"0000321946"	"COL1A1"
"0000321947"	"COL1A1"
"0000321948"	"COL1A1"
"0000321949"	"COL1A1"
"0000321950"	"COL1A1"
"0000321951"	"COL1A1"
"0000321952"	"COL1A1"
"0000321953"	"COL1A1"
"0000321954"	"COL1A1"
"0000321955"	"COL1A1"
"0000321956"	"COL1A1"
"0000321957"	"COL1A1"
"0000321959"	"COL1A1"
"0000321960"	"COL1A1"
"0000321961"	"COL1A1"
"0000321962"	"COL1A1"
"0000321963"	"COL1A1"
"0000321964"	"COL1A1"
"0000321965"	"COL1A1"
"0000321966"	"COL1A1"
"0000321967"	"COL1A1"
"0000321968"	"COL1A1"
"0000321969"	"COL1A1"
"0000321970"	"COL1A1"
"0000321971"	"COL1A1"
"0000321972"	"COL1A1"
"0000321973"	"COL1A1"
"0000321974"	"COL1A1"
"0000321975"	"COL1A1"
"0000321976"	"COL1A1"
"0000321978"	"COL1A1"
"0000321979"	"COL1A1"
"0000321980"	"COL1A1"
"0000321981"	"COL1A1"
"0000321982"	"COL1A1"
"0000321983"	"COL1A1"
"0000321984"	"COL1A1"
"0000321985"	"COL1A1"
"0000321986"	"COL1A1"
"0000321987"	"COL1A1"
"0000321988"	"COL1A1"
"0000321989"	"COL1A1"
"0000321990"	"COL1A1"
"0000321991"	"COL1A1"
"0000321992"	"COL1A1"
"0000321993"	"COL1A1"
"0000321994"	"COL1A1"
"0000321996"	"COL1A1"
"0000321997"	"COL1A1"
"0000321998"	"COL1A1"
"0000321999"	"COL1A1"
"0000322000"	"COL1A1"
"0000322001"	"COL1A1"
"0000322002"	"COL1A1"
"0000322003"	"COL1A1"
"0000322004"	"COL1A1"
"0000322005"	"COL1A1"
"0000322006"	"COL1A1"
"0000322007"	"COL1A1"
"0000322008"	"COL1A1"
"0000322009"	"COL1A1"
"0000322010"	"COL1A1"
"0000322011"	"COL1A1"
"0000322012"	"COL1A1"
"0000322013"	"COL1A1"
"0000322014"	"COL1A1"
"0000322015"	"COL1A1"
"0000322016"	"COL1A1"
"0000322017"	"COL1A1"
"0000322018"	"COL1A1"
"0000322019"	"COL1A1"
"0000322020"	"COL1A1"
"0000322021"	"COL1A1"
"0000322022"	"COL1A1"
"0000322023"	"COL1A1"
"0000322024"	"COL1A1"
"0000322025"	"COL1A1"
"0000322026"	"COL1A1"
"0000322027"	"COL1A1"
"0000322028"	"COL1A1"
"0000322029"	"COL1A1"
"0000322030"	"COL1A1"
"0000322031"	"COL1A1"
"0000322032"	"COL1A1"
"0000322033"	"COL1A1"
"0000322034"	"COL1A1"
"0000322035"	"COL1A1"
"0000322036"	"COL1A1"
"0000322037"	"COL1A1"
"0000322038"	"COL1A1"
"0000322039"	"COL1A1"
"0000322040"	"COL1A1"
"0000322041"	"COL1A1"
"0000322042"	"COL1A1"
"0000322043"	"COL1A1"
"0000322044"	"COL1A1"
"0000322045"	"COL1A1"
"0000322046"	"COL1A1"
"0000322047"	"COL1A1"
"0000322048"	"COL1A1"
"0000322050"	"COL1A1"
"0000322051"	"COL1A1"
"0000322052"	"COL1A1"
"0000322053"	"COL1A1"
"0000322054"	"COL1A1"
"0000322055"	"COL1A1"
"0000322056"	"COL1A1"
"0000322057"	"COL1A1"
"0000322058"	"COL1A1"
"0000322059"	"COL1A1"
"0000322060"	"COL1A1"
"0000322061"	"COL1A1"
"0000322062"	"COL1A1"
"0000322063"	"COL1A1"
"0000322064"	"COL1A1"
"0000322065"	"COL1A1"
"0000322066"	"COL1A1"
"0000322067"	"COL1A1"
"0000322068"	"COL1A1"
"0000322069"	"COL1A1"
"0000322070"	"COL1A1"
"0000322071"	"COL1A1"
"0000322072"	"COL1A1"
"0000322073"	"COL1A1"
"0000322074"	"COL1A1"
"0000322075"	"COL1A1"
"0000322076"	"COL1A1"
"0000322077"	"COL1A1"
"0000322078"	"COL1A1"
"0000322079"	"COL1A1"
"0000322080"	"COL1A1"
"0000322081"	"COL1A1"
"0000322082"	"COL1A1"
"0000322083"	"COL1A1"
"0000322084"	"COL1A1"
"0000322085"	"COL1A1"
"0000322086"	"COL1A1"
"0000322087"	"COL1A1"
"0000322088"	"COL1A1"
"0000322089"	"COL1A1"
"0000322090"	"COL1A1"
"0000322091"	"COL1A1"
"0000322092"	"COL1A1"
"0000322093"	"COL1A1"
"0000322094"	"COL1A1"
"0000322095"	"COL1A1"
"0000322096"	"COL1A1"
"0000322097"	"COL1A1"
"0000322098"	"COL1A1"
"0000322099"	"COL1A1"
"0000322100"	"COL1A1"
"0000322101"	"COL1A1"
"0000322102"	"COL1A1"
"0000322103"	"COL1A1"
"0000322104"	"COL1A1"
"0000322105"	"COL1A1"
"0000322106"	"COL1A1"
"0000322107"	"COL1A1"
"0000322108"	"COL1A1"
"0000322109"	"COL1A1"
"0000322110"	"COL1A1"
"0000322111"	"COL1A1"
"0000322112"	"COL1A1"
"0000322113"	"COL1A1"
"0000322114"	"COL1A1"
"0000322115"	"COL1A1"
"0000322116"	"COL1A1"
"0000322117"	"COL1A1"
"0000322118"	"COL1A1"
"0000322119"	"COL1A1"
"0000322120"	"COL1A1"
"0000322121"	"COL1A1"
"0000322122"	"COL1A1"
"0000322123"	"COL1A1"
"0000322124"	"COL1A1"
"0000322125"	"COL1A1"
"0000322126"	"COL1A1"
"0000322127"	"COL1A1"
"0000322128"	"COL1A1"
"0000322129"	"COL1A1"
"0000322130"	"COL1A1"
"0000322131"	"COL1A1"
"0000322132"	"COL1A1"
"0000322133"	"COL1A1"
"0000322134"	"COL1A1"
"0000322135"	"COL1A1"
"0000322136"	"COL1A1"
"0000322137"	"COL1A1"
"0000322138"	"COL1A1"
"0000322139"	"COL1A1"
"0000322140"	"COL1A1"
"0000322141"	"COL1A1"
"0000322142"	"COL1A1"
"0000322143"	"COL1A1"
"0000322144"	"COL1A1"
"0000322145"	"COL1A1"
"0000322146"	"COL1A1"
"0000322147"	"COL1A1"
"0000322148"	"COL1A1"
"0000322149"	"COL1A1"
"0000322150"	"COL1A1"
"0000322151"	"COL1A1"
"0000322152"	"COL1A1"
"0000322153"	"COL1A1"
"0000322154"	"COL1A1"
"0000322155"	"COL1A1"
"0000322156"	"COL1A1"
"0000322157"	"COL1A1"
"0000322158"	"COL1A1"
"0000322159"	"COL1A1"
"0000322160"	"COL1A1"
"0000322161"	"COL1A1"
"0000322162"	"COL1A1"
"0000322163"	"COL1A1"
"0000322164"	"COL1A1"
"0000322165"	"COL1A1"
"0000322166"	"COL1A1"
"0000322167"	"COL1A1"
"0000322168"	"COL1A1"
"0000322169"	"COL1A1"
"0000322170"	"COL1A1"
"0000322172"	"COL1A1"
"0000322174"	"COL1A1"
"0000322175"	"COL1A1"
"0000322176"	"COL1A1"
"0000322177"	"COL1A1"
"0000322178"	"COL1A1"
"0000322179"	"COL1A1"
"0000322181"	"COL1A1"
"0000322182"	"COL1A1"
"0000322183"	"COL1A1"
"0000322184"	"COL1A1"
"0000322185"	"COL1A1"
"0000322186"	"COL1A1"
"0000322187"	"COL1A1"
"0000322188"	"COL1A1"
"0000322189"	"COL1A1"
"0000322190"	"COL1A1"
"0000322191"	"COL1A1"
"0000322192"	"COL1A1"
"0000322193"	"COL1A1"
"0000322194"	"COL1A1"
"0000322195"	"COL1A1"
"0000322196"	"COL1A1"
"0000322197"	"COL1A1"
"0000322198"	"COL1A1"
"0000322199"	"COL1A1"
"0000322200"	"COL1A1"
"0000322201"	"COL1A1"
"0000322202"	"COL1A1"
"0000322203"	"COL1A1"
"0000322204"	"COL1A1"
"0000322205"	"COL1A1"
"0000322206"	"COL1A1"
"0000322207"	"COL1A1"
"0000322208"	"COL1A1"
"0000322209"	"COL1A1"
"0000322210"	"COL1A1"
"0000322211"	"COL1A1"
"0000322212"	"COL1A1"
"0000322213"	"COL1A1"
"0000322214"	"COL1A1"
"0000322215"	"COL1A1"
"0000322216"	"COL1A1"
"0000322217"	"COL1A1"
"0000322218"	"COL1A1"
"0000322219"	"COL1A1"
"0000322220"	"COL1A1"
"0000322221"	"COL1A1"
"0000322224"	"COL1A1"
"0000322225"	"COL1A1"
"0000322226"	"COL1A1"
"0000322227"	"COL1A1"
"0000322228"	"COL1A1"
"0000322229"	"COL1A1"
"0000322230"	"COL1A1"
"0000322231"	"COL1A1"
"0000322232"	"COL1A1"
"0000322233"	"COL1A1"
"0000322234"	"COL1A1"
"0000322235"	"COL1A1"
"0000322236"	"COL1A1"
"0000322237"	"COL1A1"
"0000322238"	"COL1A1"
"0000322239"	"COL1A1"
"0000322240"	"COL1A1"
"0000322241"	"COL1A1"
"0000322242"	"COL1A1"
"0000322243"	"COL1A1"
"0000322244"	"COL1A1"
"0000322245"	"COL1A1"
"0000322246"	"COL1A1"
"0000322247"	"COL1A1"
"0000322248"	"COL1A1"
"0000322249"	"COL1A1"
"0000322250"	"COL1A1"
"0000322251"	"COL1A1"
"0000322252"	"COL1A1"
"0000322253"	"COL1A1"
"0000322254"	"COL1A1"
"0000322255"	"COL1A1"
"0000322256"	"COL1A1"
"0000322257"	"COL1A1"
"0000322258"	"COL1A1"
"0000322259"	"COL1A1"
"0000322260"	"COL1A1"
"0000322261"	"COL1A1"
"0000322262"	"COL1A1"
"0000322263"	"COL1A1"
"0000322264"	"COL1A1"
"0000322265"	"COL1A1"
"0000322266"	"COL1A1"
"0000322267"	"COL1A1"
"0000322268"	"COL1A1"
"0000322269"	"COL1A1"
"0000322270"	"COL1A1"
"0000322271"	"COL1A1"
"0000322272"	"COL1A1"
"0000322273"	"COL1A1"
"0000322274"	"COL1A1"
"0000322275"	"COL1A1"
"0000322276"	"COL1A1"
"0000322277"	"COL1A1"
"0000322278"	"COL1A1"
"0000322279"	"COL1A1"
"0000322280"	"COL1A1"
"0000322282"	"COL1A1"
"0000322283"	"COL1A1"
"0000322284"	"COL1A1"
"0000322285"	"COL1A1"
"0000322286"	"COL1A1"
"0000322287"	"COL1A1"
"0000322288"	"COL1A1"
"0000322289"	"COL1A1"
"0000322290"	"COL1A1"
"0000322291"	"COL1A1"
"0000322292"	"COL1A1"
"0000322293"	"COL1A1"
"0000322294"	"COL1A1"
"0000322295"	"COL1A1"
"0000322296"	"COL1A1"
"0000322297"	"COL1A1"
"0000322298"	"COL1A1"
"0000322299"	"COL1A1"
"0000322300"	"COL1A1"
"0000322301"	"COL1A1"
"0000322302"	"COL1A1"
"0000322303"	"COL1A1"
"0000322304"	"COL1A1"
"0000322305"	"COL1A1"
"0000322306"	"COL1A1"
"0000322307"	"COL1A1"
"0000322308"	"COL1A1"
"0000322309"	"COL1A1"
"0000322310"	"COL1A1"
"0000322311"	"COL1A1"
"0000322312"	"COL1A1"
"0000322313"	"COL1A1"
"0000322314"	"COL1A1"
"0000322316"	"COL1A1"
"0000322317"	"COL1A1"
"0000322319"	"COL1A1"
"0000322320"	"COL1A1"
"0000322321"	"COL1A1"
"0000322322"	"COL1A1"
"0000322323"	"COL1A1"
"0000322324"	"COL1A1"
"0000322325"	"COL1A1"
"0000322326"	"COL1A1"
"0000322327"	"COL1A1"
"0000322328"	"COL1A1"
"0000322329"	"COL1A1"
"0000322330"	"COL1A1"
"0000322331"	"COL1A1"
"0000322332"	"COL1A1"
"0000322333"	"COL1A1"
"0000322334"	"COL1A1"
"0000322335"	"COL1A1"
"0000322336"	"COL1A1"
"0000322337"	"COL1A1"
"0000322338"	"COL1A1"
"0000322340"	"COL1A1"
"0000322341"	"COL1A1"
"0000322342"	"COL1A1"
"0000322343"	"COL1A1"
"0000322344"	"COL1A1"
"0000322345"	"COL1A1"
"0000322346"	"COL1A1"
"0000322347"	"COL1A1"
"0000322348"	"COL1A1"
"0000322349"	"COL1A1"
"0000322350"	"COL1A1"
"0000322351"	"COL1A1"
"0000322352"	"COL1A1"
"0000322353"	"COL1A1"
"0000322354"	"COL1A1"
"0000322355"	"COL1A1"
"0000322356"	"COL1A1"
"0000322357"	"COL1A1"
"0000322358"	"COL1A1"
"0000322359"	"COL1A1"
"0000322361"	"COL1A1"
"0000322362"	"COL1A1"
"0000322363"	"COL1A1"
"0000322364"	"COL1A1"
"0000322365"	"COL1A1"
"0000322366"	"COL1A1"
"0000322367"	"COL1A1"
"0000322370"	"COL1A1"
"0000322371"	"COL1A1"
"0000322372"	"COL1A1"
"0000322373"	"COL1A1"
"0000322374"	"COL1A1"
"0000322375"	"COL1A1"
"0000322376"	"COL1A1"
"0000322377"	"COL1A1"
"0000322378"	"COL1A1"
"0000322379"	"COL1A1"
"0000322380"	"COL1A1"
"0000322381"	"COL1A1"
"0000322382"	"COL1A1"
"0000322383"	"COL1A1"
"0000322385"	"COL1A1"
"0000322386"	"COL1A1"
"0000322387"	"COL1A1"
"0000322388"	"COL1A1"
"0000322389"	"COL1A1"
"0000322390"	"COL1A1"
"0000322391"	"COL1A1"
"0000322392"	"COL1A1"
"0000322393"	"COL1A1"
"0000322394"	"COL1A1"
"0000322395"	"COL1A1"
"0000322396"	"COL1A1"
"0000322397"	"COL1A1"
"0000322398"	"COL1A1"
"0000322399"	"COL1A1"
"0000322400"	"COL1A1"
"0000322401"	"COL1A1"
"0000322402"	"COL1A1"
"0000322403"	"COL1A1"
"0000322404"	"COL1A1"
"0000322405"	"COL1A1"
"0000322407"	"COL1A1"
"0000322408"	"COL1A1"
"0000322409"	"COL1A1"
"0000322410"	"COL1A1"
"0000322411"	"COL1A1"
"0000322412"	"COL1A1"
"0000322413"	"COL1A1"
"0000322414"	"COL1A1"
"0000322415"	"COL1A1"
"0000322416"	"COL1A1"
"0000322417"	"COL1A1"
"0000322418"	"COL1A1"
"0000322419"	"COL1A1"
"0000322420"	"COL1A1"
"0000322421"	"COL1A1"
"0000322422"	"COL1A1"
"0000322423"	"COL1A1"
"0000322425"	"COL1A1"
"0000322426"	"COL1A1"
"0000322427"	"COL1A1"
"0000322428"	"COL1A1"
"0000322429"	"COL1A1"
"0000322430"	"COL1A1"
"0000322431"	"COL1A1"
"0000322432"	"COL1A1"
"0000322433"	"COL1A1"
"0000322434"	"COL1A1"
"0000322435"	"COL1A1"
"0000322436"	"COL1A1"
"0000322437"	"COL1A1"
"0000322438"	"COL1A1"
"0000322439"	"COL1A1"
"0000322440"	"COL1A1"
"0000322441"	"COL1A1"
"0000322442"	"COL1A1"
"0000322443"	"COL1A1"
"0000322444"	"COL1A1"
"0000322445"	"COL1A1"
"0000322447"	"COL1A1"
"0000322448"	"COL1A1"
"0000322449"	"COL1A1"
"0000322450"	"COL1A1"
"0000322451"	"COL1A1"
"0000322452"	"COL1A1"
"0000322453"	"COL1A1"
"0000322454"	"COL1A1"
"0000322455"	"COL1A1"
"0000322456"	"COL1A1"
"0000322457"	"COL1A1"
"0000322458"	"COL1A1"
"0000322459"	"COL1A1"
"0000322460"	"COL1A1"
"0000322461"	"COL1A1"
"0000322462"	"COL1A1"
"0000322463"	"COL1A1"
"0000322464"	"COL1A1"
"0000322465"	"COL1A1"
"0000322466"	"COL1A1"
"0000322467"	"COL1A1"
"0000322469"	"COL1A1"
"0000322470"	"COL1A1"
"0000322471"	"COL1A1"
"0000322472"	"COL1A1"
"0000322473"	"COL1A1"
"0000322474"	"COL1A1"
"0000322475"	"COL1A1"
"0000322476"	"COL1A1"
"0000322477"	"COL1A1"
"0000322478"	"COL1A1"
"0000322479"	"COL1A1"
"0000322480"	"COL1A1"
"0000322481"	"COL1A1"
"0000322482"	"COL1A1"
"0000322483"	"COL1A1"
"0000322484"	"COL1A1"
"0000322485"	"COL1A1"
"0000322486"	"COL1A1"
"0000322487"	"COL1A1"
"0000322488"	"COL1A1"
"0000322489"	"COL1A1"
"0000322490"	"COL1A1"
"0000322491"	"COL1A1"
"0000322492"	"COL1A1"
"0000322494"	"COL1A1"
"0000322495"	"COL1A1"
"0000322496"	"COL1A1"
"0000322497"	"COL1A1"
"0000322498"	"COL1A1"
"0000322499"	"COL1A1"
"0000322500"	"COL1A1"
"0000322501"	"COL1A1"
"0000322502"	"COL1A1"
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"0000322544"	"COL1A1"
"0000322545"	"COL1A1"
"0000322546"	"COL1A1"
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"0000322551"	"COL1A1"
"0000322552"	"COL1A1"
"0000322553"	"COL1A1"
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"0000322556"	"COL1A1"
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"0000322571"	"COL1A1"
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"0000322573"	"COL1A1"
"0000322574"	"COL1A1"
"0000322575"	"COL1A1"
"0000322576"	"COL1A1"
"0000322577"	"COL1A1"
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"0000322582"	"COL1A1"
"0000322583"	"COL1A1"
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"0000322585"	"COL1A1"
"0000322586"	"COL1A1"
"0000322587"	"COL1A1"
"0000322588"	"COL1A1"
"0000322589"	"COL1A1"
"0000322590"	"COL1A1"
"0000322591"	"COL1A1"
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"0000322593"	"COL1A1"
"0000322594"	"COL1A1"
"0000322595"	"COL1A1"
"0000322596"	"COL1A1"
"0000322597"	"COL1A1"
"0000322598"	"COL1A1"
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"0000322603"	"COL1A1"
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"0000322605"	"COL1A1"
"0000322606"	"COL1A1"
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"0000322621"	"COL1A1"
"0000322622"	"COL1A1"
"0000322623"	"COL1A1"
"0000322624"	"COL1A1"
"0000322625"	"COL1A1"
"0000322626"	"COL1A1"
"0000322627"	"COL1A1"
"0000322628"	"COL1A1"
"0000322629"	"COL1A1"
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"0000322631"	"COL1A1"
"0000322632"	"COL1A1"
"0000322633"	"COL1A1"
"0000322634"	"COL1A1"
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"0000322636"	"COL1A1"
"0000322637"	"COL1A1"
"0000322638"	"COL1A1"
"0000322639"	"COL1A1"
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"0000322641"	"COL1A1"
"0000322642"	"COL1A1"
"0000322643"	"COL1A1"
"0000322644"	"COL1A1"
"0000322646"	"COL1A1"
"0000322647"	"COL1A1"
"0000322648"	"COL1A1"
"0000322649"	"COL1A1"
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"0000322651"	"COL1A1"
"0000322652"	"COL1A1"
"0000322653"	"COL1A1"
"0000322654"	"COL1A1"
"0000322655"	"COL1A1"
"0000322656"	"COL1A1"
"0000322657"	"COL1A1"
"0000322658"	"COL1A1"
"0000322659"	"COL1A1"
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"0000322661"	"COL1A1"
"0000322662"	"COL1A1"
"0000322663"	"COL1A1"
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"0000322673"	"COL1A1"
"0000322674"	"COL1A1"
"0000322675"	"COL1A1"
"0000322676"	"COL1A1"
"0000322677"	"COL1A1"
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"0000322681"	"COL1A1"
"0000322682"	"COL1A1"
"0000322683"	"COL1A1"
"0000322684"	"COL1A1"
"0000322685"	"COL1A1"
"0000322686"	"COL1A1"
"0000322687"	"COL1A1"
"0000322688"	"COL1A1"
"0000322689"	"COL1A1"
"0000322690"	"COL1A1"
"0000322691"	"COL1A1"
"0000322692"	"COL1A1"
"0000322693"	"COL1A1"
"0000322694"	"COL1A1"
"0000322695"	"COL1A1"
"0000322696"	"COL1A1"
"0000322697"	"COL1A1"
"0000322698"	"COL1A1"
"0000322699"	"COL1A1"
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"0000322701"	"COL1A1"
"0000322702"	"COL1A1"
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"0000322706"	"COL1A1"
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"0000323011"	"COL1A1"
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"0000323131"	"COL1A1"
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"0000323133"	"COL1A1"
"0000323134"	"COL1A1"
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"0000323137"	"COL1A1"
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"0000323143"	"COL1A1"
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"0000323147"	"COL1A1"
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"0000323151"	"COL1A1"
"0000323152"	"COL1A1"
"0000323153"	"COL1A1"
"0000323154"	"COL1A1"
"0000323155"	"COL1A1"
"0000323156"	"COL1A1"
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"0000323160"	"COL1A1"
"0000323161"	"COL1A1"
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"0000323166"	"COL1A1"
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"0000323171"	"COL1A1"
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"0000323175"	"COL1A1"
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"0000323181"	"COL1A1"
"0000323182"	"COL1A1"
"0000323183"	"COL1A1"
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"0000323185"	"COL1A1"
"0000323186"	"COL1A1"
"0000323187"	"COL1A1"
"0000323188"	"COL1A1"
"0000323189"	"COL1A1"
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"0000323191"	"COL1A1"
"0000323192"	"COL1A1"
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"0000323194"	"COL1A1"
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"0000323201"	"COL1A1"
"0000323202"	"COL1A1"
"0000323203"	"COL1A1"
"0000323204"	"COL1A1"
"0000323205"	"COL1A1"
"0000323206"	"COL1A1"
"0000323207"	"COL1A1"
"0000323208"	"COL1A1"
"0000323209"	"COL1A1"
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"0000323211"	"COL1A1"
"0000323212"	"COL1A1"
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"0000323214"	"COL1A1"
"0000323215"	"COL1A1"
"0000323216"	"COL1A1"
"0000323217"	"COL1A1"
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"0000323220"	"COL1A1"
"0000323221"	"COL1A1"
"0000323222"	"COL1A1"
"0000323223"	"COL1A1"
"0000323224"	"COL1A1"
"0000323225"	"COL1A1"
"0000323226"	"COL1A1"
"0000323227"	"COL1A1"
"0000323228"	"COL1A1"
"0000323229"	"COL1A1"
"0000323230"	"COL1A1"
"0000323231"	"COL1A1"
"0000323232"	"COL1A1"
"0000323233"	"COL1A1"
"0000323234"	"COL1A1"
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"0000323236"	"COL1A1"
"0000323237"	"COL1A1"
"0000323238"	"COL1A1"
"0000323239"	"COL1A1"
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"0000323241"	"COL1A1"
"0000323242"	"COL1A1"
"0000323243"	"COL1A1"
"0000323246"	"COL1A1"
"0000323247"	"COL1A1"
"0000323248"	"COL1A1"
"0000323249"	"COL1A1"
"0000323250"	"COL1A1"
"0000323251"	"COL1A1"
"0000323252"	"COL1A1"
"0000323253"	"COL1A1"
"0000323254"	"COL1A1"
"0000323255"	"COL1A1"
"0000323256"	"COL1A1"
"0000323257"	"COL1A1"
"0000323258"	"COL1A1"
"0000323259"	"COL1A1"
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"0000323261"	"COL1A1"
"0000323262"	"COL1A1"
"0000323263"	"COL1A1"
"0000323264"	"COL1A1"
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"0000323267"	"COL1A1"
"0000323268"	"COL1A1"
"0000323269"	"COL1A1"
"0000323270"	"COL1A1"
"0000323271"	"COL1A1"
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"0000323273"	"COL1A1"
"0000323274"	"COL1A1"
"0000323275"	"COL1A1"
"0000323276"	"COL1A1"
"0000323277"	"COL1A1"
"0000323278"	"COL1A1"
"0000323279"	"COL1A1"
"0000323280"	"COL1A1"
"0000323281"	"COL1A1"
"0000323282"	"COL1A1"
"0000323283"	"COL1A1"
"0000323285"	"COL1A1"
"0000323286"	"COL1A1"
"0000323287"	"COL1A1"
"0000323288"	"COL1A1"
"0000323289"	"COL1A1"
"0000323290"	"COL1A1"
"0000323291"	"COL1A1"
"0000323292"	"COL1A1"
"0000323293"	"COL1A1"
"0000323294"	"COL1A1"
"0000323295"	"COL1A1"
"0000323296"	"COL1A1"
"0000323297"	"COL1A1"
"0000323298"	"COL1A1"
"0000323299"	"COL1A1"
"0000323300"	"COL1A1"
"0000323302"	"COL1A1"
"0000323303"	"COL1A1"
"0000323304"	"COL1A1"
"0000323305"	"COL1A1"
"0000323306"	"COL1A1"
"0000323307"	"COL1A1"
"0000323308"	"COL1A1"
"0000323309"	"COL1A1"
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"0000323311"	"COL1A1"
"0000323312"	"COL1A1"
"0000323313"	"COL1A1"
"0000323314"	"COL1A1"
"0000323315"	"COL1A1"
"0000323316"	"COL1A1"
"0000323317"	"COL1A1"
"0000323318"	"COL1A1"
"0000323319"	"COL1A1"
"0000323320"	"COL1A1"
"0000323321"	"COL1A1"
"0000323322"	"COL1A1"
"0000323323"	"COL1A1"
"0000323324"	"COL1A1"
"0000323325"	"COL1A1"
"0000323326"	"COL1A1"
"0000323327"	"COL1A1"
"0000323328"	"COL1A1"
"0000323329"	"COL1A1"
"0000323330"	"COL1A1"
"0000323331"	"COL1A1"
"0000323332"	"COL1A1"
"0000323333"	"COL1A1"
"0000323334"	"COL1A1"
"0000323335"	"COL1A1"
"0000323336"	"COL1A1"
"0000323337"	"COL1A1"
"0000323338"	"COL1A1"
"0000323339"	"COL1A1"
"0000323340"	"COL1A1"
"0000323341"	"COL1A1"
"0000323342"	"COL1A1"
"0000323343"	"COL1A1"
"0000323344"	"COL1A1"
"0000323345"	"COL1A1"
"0000323346"	"COL1A1"
"0000323347"	"COL1A1"
"0000323348"	"COL1A1"
"0000323349"	"COL1A1"
"0000323350"	"COL1A1"
"0000323351"	"COL1A1"
"0000323352"	"COL1A1"
"0000323353"	"COL1A1"
"0000323354"	"COL1A1"
"0000323355"	"COL1A1"
"0000323356"	"COL1A1"
"0000323357"	"COL1A1"
"0000323358"	"COL1A1"
"0000323359"	"COL1A1"
"0000323360"	"COL1A1"
"0000323361"	"COL1A1"
"0000323362"	"COL1A1"
"0000323363"	"COL1A1"
"0000323364"	"COL1A1"
"0000323365"	"COL1A1"
"0000323366"	"COL1A1"
"0000323367"	"COL1A1"
"0000323368"	"COL1A1"
"0000323369"	"COL1A1"
"0000323370"	"COL1A1"
"0000323372"	"COL1A1"
"0000323373"	"COL1A1"
"0000323374"	"COL1A1"
"0000323375"	"COL1A1"
"0000323376"	"COL1A1"
"0000323377"	"COL1A1"
"0000323378"	"COL1A1"
"0000323379"	"COL1A1"
"0000323380"	"COL1A1"
"0000323381"	"COL1A1"
"0000323382"	"COL1A1"
"0000323383"	"COL1A1"
"0000323384"	"COL1A1"
"0000323385"	"COL1A1"
"0000323386"	"COL1A1"
"0000323387"	"COL1A1"
"0000323388"	"COL1A1"
"0000323389"	"COL1A1"
"0000323390"	"COL1A1"
"0000323391"	"COL1A1"
"0000323392"	"COL1A1"
"0000323393"	"COL1A1"
"0000323394"	"COL1A1"
"0000323395"	"COL1A1"
"0000323397"	"COL1A1"
"0000323398"	"COL1A1"
"0000323399"	"COL1A1"
"0000323400"	"COL1A1"
"0000323401"	"COL1A1"
"0000323402"	"COL1A1"
"0000323404"	"COL1A1"
"0000323405"	"COL1A1"
"0000323406"	"COL1A1"
"0000323407"	"COL1A1"
"0000323408"	"COL1A1"
"0000323409"	"COL1A1"
"0000323410"	"COL1A1"
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"0000323417"	"COL1A1"
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"0000323420"	"COL1A1"
"0000323421"	"COL1A1"
"0000323422"	"COL1A1"
"0000323423"	"COL1A1"
"0000323424"	"COL1A1"
"0000323425"	"COL1A1"
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"0000323441"	"COL1A1"
"0000323442"	"COL1A1"
"0000323443"	"COL1A1"
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"0000323474"	"COL1A1"
"0000323475"	"COL1A1"
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"0000323477"	"COL1A1"
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"0000323482"	"COL1A1"
"0000323483"	"COL1A1"
"0000323484"	"COL1A1"
"0000323485"	"COL1A1"
"0000323486"	"COL1A1"
"0000323487"	"COL1A1"
"0000323488"	"COL1A1"
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"0000323490"	"COL1A1"
"0000323491"	"COL1A1"
"0000323492"	"COL1A1"
"0000323493"	"COL1A1"
"0000323494"	"COL1A1"
"0000323495"	"COL1A1"
"0000323496"	"COL1A1"
"0000323497"	"COL1A1"
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"0000323499"	"COL1A1"
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"0000323502"	"COL1A1"
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"0000323504"	"COL1A1"
"0000323505"	"COL1A1"
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"0000323507"	"COL1A1"
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"0000323519"	"COL1A1"
"0000323520"	"COL1A1"
"0000323521"	"COL1A1"
"0000323522"	"COL1A1"
"0000323523"	"COL1A1"
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"0000323525"	"COL1A1"
"0000323526"	"COL1A1"
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"0000323529"	"COL1A1"
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"0000323531"	"COL1A1"
"0000323532"	"COL1A1"
"0000323533"	"COL1A1"
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"0000323536"	"COL1A1"
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"0000323540"	"COL1A1"
"0000323541"	"COL1A1"
"0000323542"	"COL1A1"
"0000323544"	"COL1A1"
"0000323545"	"COL1A1"
"0000323546"	"COL1A1"
"0000323547"	"COL1A1"
"0000323548"	"COL1A1"
"0000323549"	"COL1A1"
"0000323550"	"COL1A1"
"0000323551"	"COL1A1"
"0000323552"	"COL1A1"
"0000323553"	"COL1A1"
"0000323554"	"COL1A1"
"0000323555"	"COL1A1"
"0000323556"	"COL1A1"
"0000323557"	"COL1A1"
"0000323558"	"COL1A1"
"0000323559"	"COL1A1"
"0000323560"	"COL1A1"
"0000323561"	"COL1A1"
"0000323562"	"COL1A1"
"0000323563"	"COL1A1"
"0000323564"	"COL1A1"
"0000323565"	"COL1A1"
"0000323566"	"COL1A1"
"0000323567"	"COL1A1"
"0000323568"	"COL1A1"
"0000323569"	"COL1A1"
"0000323570"	"COL1A1"
"0000323571"	"COL1A1"
"0000323572"	"COL1A1"
"0000323573"	"COL1A1"
"0000323574"	"COL1A1"
"0000323575"	"COL1A1"
"0000323576"	"COL1A1"
"0000323577"	"COL1A1"
"0000323578"	"COL1A1"
"0000323579"	"COL1A1"
"0000323580"	"COL1A1"
"0000323581"	"COL1A1"
"0000323582"	"COL1A1"
"0000323583"	"COL1A1"
"0000323586"	"COL1A1"
"0000323587"	"COL1A1"
"0000323588"	"COL1A1"
"0000323589"	"COL1A1"
"0000323590"	"COL1A1"
"0000323591"	"COL1A1"
"0000323592"	"COL1A1"
"0000323593"	"COL1A1"
"0000323594"	"COL1A1"
"0000323595"	"COL1A1"
"0000323596"	"COL1A1"
"0000323597"	"COL1A1"
"0000323598"	"COL1A1"
"0000323599"	"COL1A1"
"0000323600"	"COL1A1"
"0000323601"	"COL1A1"
"0000323602"	"COL1A1"
"0000323603"	"COL1A1"
"0000323604"	"COL1A1"
"0000323605"	"COL1A1"
"0000323606"	"COL1A1"
"0000323607"	"COL1A1"
"0000323609"	"COL1A1"
"0000323610"	"COL1A1"
"0000323611"	"COL1A1"
"0000323612"	"COL1A1"
"0000323613"	"COL1A1"
"0000323614"	"COL1A1"
"0000323615"	"COL1A1"
"0000323616"	"COL1A1"
"0000323617"	"COL1A1"
"0000323618"	"COL1A1"
"0000323619"	"COL1A1"
"0000323620"	"COL1A1"
"0000323621"	"COL1A1"
"0000323622"	"COL1A1"
"0000323623"	"COL1A1"
"0000323624"	"COL1A1"
"0000323625"	"COL1A1"
"0000323626"	"COL1A1"
"0000323627"	"COL1A1"
"0000323629"	"COL1A1"
"0000323630"	"COL1A1"
"0000323631"	"COL1A1"
"0000323632"	"COL1A1"
"0000323633"	"COL1A1"
"0000323634"	"COL1A1"
"0000323635"	"COL1A1"
"0000323636"	"COL1A1"
"0000323637"	"COL1A1"
"0000323638"	"COL1A1"
"0000323639"	"COL1A1"
"0000323640"	"COL1A1"
"0000323641"	"COL1A1"
"0000323642"	"COL1A1"
"0000323643"	"COL1A1"
"0000323644"	"COL1A1"
"0000323645"	"COL1A1"
"0000323646"	"COL1A1"
"0000323647"	"COL1A1"
"0000323648"	"COL1A1"
"0000323649"	"COL1A1"
"0000323650"	"COL1A1"
"0000323651"	"COL1A1"
"0000323652"	"COL1A1"
"0000323653"	"COL1A1"
"0000323654"	"COL1A1"
"0000323655"	"COL1A1"
"0000323656"	"COL1A1"
"0000323658"	"COL1A1"
"0000323659"	"COL1A1"
"0000323660"	"COL1A1"
"0000323661"	"COL1A1"
"0000323662"	"COL1A1"
"0000323663"	"COL1A1"
"0000323664"	"COL1A1"
"0000323665"	"COL1A1"
"0000323666"	"COL1A1"
"0000323667"	"COL1A1"
"0000323668"	"COL1A1"
"0000323669"	"COL1A1"
"0000323670"	"COL1A1"
"0000323671"	"COL1A1"
"0000323672"	"COL1A1"
"0000323673"	"COL1A1"
"0000323674"	"COL1A1"
"0000323675"	"COL1A1"
"0000323676"	"COL1A1"
"0000323677"	"COL1A1"
"0000323678"	"COL1A1"
"0000323679"	"COL1A1"
"0000323680"	"COL1A1"
"0000323681"	"COL1A1"
"0000323682"	"COL1A1"
"0000323683"	"COL1A1"
"0000323684"	"COL1A1"
"0000323685"	"COL1A1"
"0000323686"	"COL1A1"
"0000323687"	"COL1A1"
"0000323688"	"COL1A1"
"0000323689"	"COL1A1"
"0000323690"	"COL1A1"
"0000323692"	"COL1A1"
"0000323693"	"COL1A1"
"0000323694"	"COL1A1"
"0000323695"	"COL1A1"
"0000323696"	"COL1A1"
"0000323697"	"COL1A1"
"0000323698"	"COL1A1"
"0000323699"	"COL1A1"
"0000323700"	"COL1A1"
"0000323701"	"COL1A1"
"0000323702"	"COL1A1"
"0000323703"	"COL1A1"
"0000323704"	"COL1A1"
"0000323705"	"COL1A1"
"0000323706"	"COL1A1"
"0000323707"	"COL1A1"
"0000323708"	"COL1A1"
"0000323709"	"COL1A1"
"0000323710"	"COL1A1"
"0000323711"	"COL1A1"
"0000323712"	"COL1A1"
"0000323713"	"COL1A1"
"0000323714"	"COL1A1"
"0000323715"	"COL1A1"
"0000323716"	"COL1A1"
"0000323717"	"COL1A1"
"0000323718"	"COL1A1"
"0000323719"	"COL1A1"
"0000323720"	"COL1A1"
"0000323721"	"COL1A1"
"0000323722"	"COL1A1"
"0000323723"	"COL1A1"
"0000323724"	"COL1A1"
"0000323726"	"COL1A1"
"0000323727"	"COL1A1"
"0000323728"	"COL1A1"
"0000323729"	"COL1A1"
"0000323730"	"COL1A1"
"0000323731"	"COL1A1"
"0000323732"	"COL1A1"
"0000323733"	"COL1A1"
"0000323734"	"COL1A1"
"0000323735"	"COL1A1"
"0000323736"	"COL1A1"
"0000323737"	"COL1A1"
"0000323738"	"COL1A1"
"0000323739"	"COL1A1"
"0000323740"	"COL1A1"
"0000323741"	"COL1A1"
"0000323742"	"COL1A1"
"0000323743"	"COL1A1"
"0000323744"	"COL1A1"
"0000323745"	"COL1A1"
"0000323746"	"COL1A1"
"0000323747"	"COL1A1"
"0000323748"	"COL1A1"
"0000323749"	"COL1A1"
"0000323750"	"COL1A1"
"0000323751"	"COL1A1"
"0000323752"	"COL1A1"
"0000323753"	"COL1A1"
"0000323754"	"COL1A1"
"0000323755"	"COL1A1"
"0000323756"	"COL1A1"
"0000323757"	"COL1A1"
"0000323758"	"COL1A1"
"0000323760"	"COL1A1"
"0000323761"	"COL1A1"
"0000323762"	"COL1A1"
"0000323763"	"COL1A1"
"0000323764"	"COL1A1"
"0000323765"	"COL1A1"
"0000323766"	"COL1A1"
"0000323767"	"COL1A1"
"0000323768"	"COL1A1"
"0000323769"	"COL1A1"
"0000323770"	"COL1A1"
"0000323771"	"COL1A1"
"0000323772"	"COL1A1"
"0000323773"	"COL1A1"
"0000323774"	"COL1A1"
"0000323775"	"COL1A1"
"0000323776"	"COL1A1"
"0000323777"	"COL1A1"
"0000323778"	"COL1A1"
"0000323779"	"COL1A1"
"0000323780"	"COL1A1"
"0000323781"	"COL1A1"
"0000323782"	"COL1A1"
"0000323783"	"COL1A1"
"0000323784"	"COL1A1"
"0000323785"	"COL1A1"
"0000323786"	"COL1A1"
"0000323787"	"COL1A1"
"0000323788"	"COL1A1"
"0000323789"	"COL1A1"
"0000323790"	"COL1A1"
"0000323791"	"COL1A1"
"0000323792"	"COL1A1"
"0000323793"	"COL1A1"
"0000323794"	"COL1A1"
"0000323795"	"COL1A1"
"0000323796"	"COL1A1"
"0000323798"	"COL1A1"
"0000323799"	"COL1A1"
"0000323800"	"COL1A1"
"0000323801"	"COL1A1"
"0000323802"	"COL1A1"
"0000323803"	"COL1A1"
"0000323804"	"COL1A1"
"0000323805"	"COL1A1"
"0000323806"	"COL1A1"
"0000323807"	"COL1A1"
"0000323808"	"COL1A1"
"0000323809"	"COL1A1"
"0000323810"	"COL1A1"
"0000323811"	"COL1A1"
"0000323812"	"COL1A1"
"0000323814"	"COL1A1"
"0000323815"	"COL1A1"
"0000323816"	"COL1A1"
"0000323817"	"COL1A1"
"0000323818"	"COL1A1"
"0000323819"	"COL1A1"
"0000323820"	"COL1A1"
"0000323821"	"COL1A1"
"0000323822"	"COL1A1"
"0000323823"	"COL1A1"
"0000323824"	"COL1A1"
"0000323825"	"COL1A1"
"0000323826"	"COL1A1"
"0000323827"	"COL1A1"
"0000323828"	"COL1A1"
"0000323829"	"COL1A1"
"0000323830"	"COL1A1"
"0000323831"	"COL1A1"
"0000323832"	"COL1A1"
"0000323833"	"COL1A1"
"0000323835"	"COL1A1"
"0000323836"	"COL1A1"
"0000323837"	"COL1A1"
"0000323838"	"COL1A1"
"0000323839"	"COL1A1"
"0000323840"	"COL1A1"
"0000323841"	"COL1A1"
"0000323842"	"COL1A1"
"0000323843"	"COL1A1"
"0000323844"	"COL1A1"
"0000323846"	"COL1A1"
"0000323847"	"COL1A1"
"0000323848"	"COL1A1"
"0000323849"	"COL1A1"
"0000323850"	"COL1A1"
"0000323851"	"COL1A1"
"0000323852"	"COL1A1"
"0000323853"	"COL1A1"
"0000323854"	"COL1A1"
"0000323855"	"COL1A1"
"0000323856"	"COL1A1"
"0000323857"	"COL1A1"
"0000323858"	"COL1A1"
"0000323859"	"COL1A1"
"0000323860"	"COL1A1"
"0000323861"	"COL1A1"
"0000323862"	"COL1A1"
"0000323863"	"COL1A1"
"0000323864"	"COL1A1"
"0000323865"	"COL1A1"
"0000323866"	"COL1A1"
"0000323867"	"COL1A1"
"0000323868"	"COL1A1"
"0000323869"	"COL1A1"
"0000323870"	"COL1A1"
"0000323871"	"COL1A1"
"0000323872"	"COL1A1"
"0000323873"	"COL1A1"
"0000323874"	"COL1A1"
"0000323875"	"COL1A1"
"0000323876"	"COL1A1"
"0000323877"	"COL1A1"
"0000323878"	"COL1A1"
"0000323879"	"COL1A1"
"0000323881"	"COL1A1"
"0000323882"	"COL1A1"
"0000323883"	"COL1A1"
"0000323884"	"COL1A1"
"0000323885"	"COL1A1"
"0000323886"	"COL1A1"
"0000323887"	"COL1A1"
"0000323888"	"COL1A1"
"0000323889"	"COL1A1"
"0000323890"	"COL1A1"
"0000323891"	"COL1A1"
"0000323892"	"COL1A1"
"0000323893"	"COL1A1"
"0000323895"	"COL1A1"
"0000323896"	"COL1A1"
"0000323897"	"COL1A1"
"0000323899"	"COL1A1"
"0000323900"	"COL1A1"
"0000323901"	"COL1A1"
"0000323902"	"COL1A1"
"0000323903"	"COL1A1"
"0000323904"	"COL1A1"
"0000323905"	"COL1A1"
"0000323906"	"COL1A1"
"0000323907"	"COL1A1"
"0000323908"	"COL1A1"
"0000323909"	"COL1A1"
"0000323910"	"COL1A1"
"0000323911"	"COL1A1"
"0000323912"	"COL1A1"
"0000323913"	"COL1A1"
"0000323914"	"COL1A1"
"0000323915"	"COL1A1"
"0000323916"	"COL1A1"
"0000323917"	"COL1A1"
"0000323918"	"COL1A1"
"0000323919"	"COL1A1"
"0000323920"	"COL1A1"
"0000323921"	"COL1A1"
"0000323922"	"COL1A1"
"0000323923"	"COL1A1"
"0000323924"	"COL1A1"
"0000323925"	"COL1A1"
"0000323926"	"COL1A1"
"0000323927"	"COL1A1"
"0000323928"	"COL1A1"
"0000323929"	"COL1A1"
"0000323930"	"COL1A1"
"0000323931"	"COL1A1"
"0000323932"	"COL1A1"
"0000323933"	"COL1A1"
"0000323934"	"COL1A1"
"0000323936"	"COL1A1"
"0000323937"	"COL1A1"
"0000323938"	"COL1A1"
"0000323939"	"COL1A1"
"0000323940"	"COL1A1"
"0000323941"	"COL1A1"
"0000323942"	"COL1A1"
"0000323944"	"COL1A1"
"0000323945"	"COL1A1"
"0000323946"	"COL1A1"
"0000323947"	"COL1A1"
"0000323948"	"COL1A1"
"0000323949"	"COL1A1"
"0000323950"	"COL1A1"
"0000323951"	"COL1A1"
"0000323952"	"COL1A1"
"0000323953"	"COL1A1"
"0000323954"	"COL1A1"
"0000323955"	"COL1A1"
"0000323956"	"COL1A1"
"0000323957"	"COL1A1"
"0000323958"	"COL1A1"
"0000323959"	"COL1A1"
"0000323960"	"COL1A1"
"0000323961"	"COL1A1"
"0000323962"	"COL1A1"
"0000323964"	"COL1A1"
"0000323965"	"COL1A1"
"0000323966"	"COL1A1"
"0000323967"	"COL1A1"
"0000323968"	"COL1A1"
"0000323969"	"COL1A1"
"0000323970"	"COL1A1"
"0000323971"	"COL1A1"
"0000323972"	"COL1A1"
"0000323973"	"COL1A1"
"0000323974"	"COL1A1"
"0000323975"	"COL1A1"
"0000323976"	"COL1A1"
"0000323977"	"COL1A1"
"0000323978"	"COL1A1"
"0000323979"	"COL1A1"
"0000323980"	"COL1A1"
"0000323981"	"COL1A1"
"0000323982"	"COL1A1"
"0000323983"	"COL1A1"
"0000323984"	"COL1A1"
"0000323985"	"COL1A1"
"0000323986"	"COL1A1"
"0000323988"	"COL1A1"
"0000323989"	"COL1A1"
"0000323990"	"COL1A1"
"0000323991"	"COL1A1"
"0000323992"	"COL1A1"
"0000323993"	"COL1A1"
"0000323994"	"COL1A1"
"0000323995"	"COL1A1"
"0000323996"	"COL1A1"
"0000323997"	"COL1A1"
"0000323998"	"COL1A1"
"0000323999"	"COL1A1"
"0000324000"	"COL1A1"
"0000324001"	"COL1A1"
"0000324002"	"COL1A1"
"0000324004"	"COL1A1"
"0000324005"	"COL1A1"
"0000324006"	"COL1A1"
"0000324007"	"COL1A1"
"0000324008"	"COL1A1"
"0000324009"	"COL1A1"
"0000324010"	"COL1A1"
"0000324011"	"COL1A1"
"0000324504"	"COL1A2"
"0000324985"	"COL1A2"
"0000328629"	"COL1A1"
"0000328630"	"COL1A1"
"0000328631"	"COL1A1"
"0000328632"	"COL1A1"
"0000328633"	"COL1A1"
"0000328634"	"COL1A1"
"0000328635"	"COL1A1"
"0000328636"	"COL1A1"
"0000328637"	"COL1A1"
"0000328638"	"COL1A1"
"0000328639"	"COL1A1"
"0000328640"	"COL1A1"
"0000328641"	"COL1A1"
"0000328642"	"COL1A1"
"0000328643"	"COL1A1"
"0000328644"	"COL1A1"
"0000328645"	"COL1A1"
"0000328646"	"COL1A1"
"0000328647"	"COL1A1"
"0000328648"	"COL1A1"
"0000328649"	"COL1A1"
"0000328650"	"COL1A1"
"0000328667"	"TMEM38B"
"0000332586"	"COL1A1"
"0000332587"	"COL1A1"
"0000332588"	"COL1A1"
"0000332589"	"COL1A1"
"0000332590"	"COL1A1"
"0000360601"	"COL1A1"
"0000360601"	"COL1A2"
"0000360602"	"COL1A1"
"0000360602"	"COL1A2"
"0000360603"	"COL1A1"
"0000360603"	"COL1A2"
"0000360604"	"COL1A1"
"0000360604"	"COL1A2"
"0000360628"	"COL1A1"
"0000360628"	"COL1A2"
"0000360629"	"COL1A1"
"0000360629"	"COL1A2"
"0000360630"	"COL1A1"
"0000360630"	"COL1A2"
"0000360631"	"COL1A1"
"0000360631"	"COL1A2"
"0000360632"	"COL1A1"
"0000360632"	"COL1A2"
"0000360884"	"COL1A1"
"0000360885"	"COL1A1"
"0000364989"	"COL1A1"
"0000375320"	"COL1A1"
"0000378342"	"COL1A1"
"0000387147"	"COL1A1"
"0000389498"	"COL1A1"
"0000389498"	"COL1A2"
"0000394679"	"COL1A1"
"0000400532"	"COL1A1"
"0000400533"	"COL1A1"
"0000400535"	"COL1A1"
"0000410398"	"COL1A1"
"0000410398"	"COL1A2"
"0000418873"	"COL1A1"
"0000429145"	"COL1A1"
"0000429462"	"COL1A1"
"0000431704"	"COL1A1"
"0000432562"	"COL1A1"
"0000432563"	"COL1A1"
"0000432564"	"COL1A1"
"0000432565"	"COL1A1"
"0000436562"	"COL1A1"
"0000436562"	"COL1A2"


## 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 = 4671
"{{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}}"
"0000079624"	"21"	"90"	"17"	"48267063"	"48267063"	"subst"	"0"	"00006"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000128484"	"11"	"97"	"17"	"48264163"	"48264163"	"subst"	"0"	"01224"	"COL1A1_000454"	"g.48264163C>T"	""	""	""	""	"The variant has been transmitted to two affected children (osteogenesis imperfecta with increased BMD) in an autosomal dominant manner from unaffected gonosomal mosaic father."	"Germline"	"yes"	""	"0"	""	""	"g.50186802C>T"	""	"pathogenic"	""
"0000128951"	"11"	"77"	"17"	"48263871"	"48263871"	"subst"	"0"	"01745"	"COL1A1_001448"	"g.48263871G>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50186510G>C"	""	"likely pathogenic"	""
"0000171994"	"10"	"10"	"17"	"48263369"	"48263369"	"subst"	"0.00065995"	"00006"	"COL1A1_000539"	"g.48263369C>T"	""	"{PMID:Lindert 2016:27380894}, {DOI:Lindert 2016:10.1038/ncomms11920}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.50186008C>T"	""	"benign"	""
"0000222080"	"0"	"79"	"17"	"48264272"	"48264273"	"del"	"0"	"01396"	"COL1A1_001453"	"g.48264272_48264273delinsTT"	""	""	""	"[3542G>A;3543C>A]"	"not in 94 control chromosomes tested"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.50186911_50186912delinsTT"	""	"likely pathogenic"	""
"0000248316"	"0"	"10"	"17"	"48268223"	"48268223"	"subst"	"0.999886"	"02325"	"COL1A1_001501"	"g.48268223A>G"	""	""	""	"COL1A1(NM_000088.3):c.2298T>C (p.T766=), COL1A1(NM_000088.4):c.2298T>C (p.T766=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50190862A>G"	""	"benign"	""
"0000250051"	"0"	"10"	"17"	"48268223"	"48268223"	"subst"	"0.999886"	"02329"	"COL1A1_001501"	"g.48268223A>G"	""	""	""	"COL1A1(NM_000088.3):c.2298T>C (p.T766=), COL1A1(NM_000088.4):c.2298T>C (p.T766=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50190862A>G"	""	"benign"	""
"0000250129"	"0"	"10"	"17"	"48264448"	"48264448"	"subst"	"0.0130571"	"02329"	"COL1A1_000506"	"g.48264448A>G"	""	""	""	"COL1A1(NM_000088.3):c.3459T>C (p.D1153=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50187087A>G"	""	"benign"	""
"0000250233"	"0"	"10"	"17"	"48269903"	"48269903"	"subst"	"0.17068"	"02329"	"COL1A1_001511"	"g.48269903A>G"	""	""	""	"COL1A1(NM_000088.3):c.1930-14T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50192542A>G"	""	"benign"	""
"0000250234"	"0"	"10"	"17"	"48273903"	"48273903"	"subst"	"0.0781895"	"02329"	"COL1A1_001538"	"g.48273903A>C"	""	""	""	"COL1A1(NM_000088.3):c.859-14T>G, COL1A1(NM_000088.4):c.859-14T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50196542A>C"	""	"benign"	""
"0000250483"	"0"	"30"	"17"	"48278756"	"48278756"	"subst"	"0.000502915"	"02329"	"COL1A1_001571"	"g.48278756A>C"	""	""	""	"COL1A1(NM_000088.3):c.103+16T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50201395A>C"	""	"likely benign"	""
"0000250512"	"0"	"90"	"17"	"48264430"	"48264430"	"del"	"0"	"02329"	"COL1A1_000522"	"g.48264430del"	""	""	""	"COL1A1(NM_000088.3):c.3477delT (p.G1160Afs*79)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50187069del"	""	"pathogenic"	""
"0000250513"	"0"	"90"	"17"	"48275337"	"48275337"	"del"	"0"	"02329"	"COL1A1_001551"	"g.48275337del"	""	""	""	"COL1A1(NM_000088.3):c.615delT (p.G206Vfs*59)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50197976del"	""	"pathogenic"	""
"0000266927"	"0"	"10"	"17"	"48277093"	"48277099"	"del"	"0"	"02325"	"COL1A1_001568"	"g.48277093_48277099del"	""	""	""	"COL1A1(NM_000088.4):c.298+48_298+54delCTGGGGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50199732_50199738del"	""	"benign"	""
"0000266928"	"0"	"10"	"17"	"48265495"	"48265495"	"subst"	"0.985073"	"02325"	"COL1A1_001462"	"g.48265495T>C"	""	""	""	"COL1A1(NM_000088.3):c.3223A>G (p.T1075A), COL1A1(NM_000088.4):c.3223A>G (p.T1075A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50188134="	""	"benign"	""
"0000268242"	"0"	"10"	"17"	"48277749"	"48277749"	"subst"	"0"	"02329"	"COL1A1_001234"	"g.48277749C>A"	""	""	""	"COL1A1(NM_000088.3):c.104-441G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50200388C>A"	""	"benign"	""
"0000268243"	"0"	"90"	"17"	"48272961"	"48272961"	"del"	"0"	"02329"	"COL1A1_000300"	"g.48272961del"	""	""	""	"COL1A1(NM_000088.3):c.1127delC (p.P376Lfs*165)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195600del"	""	"pathogenic"	""
"0000268244"	"0"	"30"	"17"	"48272792"	"48272792"	"subst"	"4.06068E-6"	"02329"	"COL1A1_001527"	"g.48272792T>C"	""	""	""	"COL1A1(NM_000088.3):c.1200+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195431T>C"	""	"likely benign"	""
"0000268245"	"0"	"10"	"17"	"48272469"	"48272469"	"subst"	"0.0159974"	"02329"	"COL1A1_001521"	"g.48272469G>C"	""	""	""	"COL1A1(NM_000088.3):c.1300-8C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195108G>C"	""	"benign"	""
"0000268246"	"0"	"10"	"17"	"48272469"	"48272469"	"subst"	"0.00695891"	"02329"	"COL1A1_001520"	"g.48272469G>A"	""	""	""	"COL1A1(NM_000088.3):c.1300-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195108G>A"	""	"benign"	""
"0000268247"	"0"	"30"	"17"	"48272470"	"48272470"	"subst"	"8.13954E-6"	"02329"	"COL1A1_001522"	"g.48272470G>A"	""	""	""	"COL1A1(NM_000088.3):c.1300-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195109G>A"	""	"likely benign"	""
"0000268248"	"0"	"90"	"17"	"48272424"	"48272424"	"subst"	"0"	"02329"	"COL1A1_001519"	"g.48272424C>T"	""	""	""	"COL1A1(NM_000088.3):c.1337G>A (p.G446D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195063C>T"	""	"pathogenic"	""
"0000268249"	"0"	"90"	"17"	"48272138"	"48272138"	"subst"	"0"	"02329"	"COL1A1_000526"	"g.48272138G>A"	""	""	""	"COL1A1(NM_000088.3):c.1405C>T (p.R469*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000268250"	"0"	"10"	"17"	"48271548"	"48271548"	"subst"	"0.00222388"	"02329"	"COL1A1_000411"	"g.48271548G>T"	""	""	""	"COL1A1(NM_000088.3):c.1615-4C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50194187G>T"	""	"benign"	""
"0000268251"	"0"	"10"	"17"	"48277235"	"48277235"	"subst"	"0.0204306"	"02329"	"COL1A1_000500"	"g.48277235C>A"	""	""	""	"COL1A1(NM_000088.3):c.177G>T (p.R59=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50199874C>A"	""	"benign"	""
"0000268252"	"0"	"10"	"17"	"48270373"	"48270373"	"subst"	"0.00759064"	"02329"	"COL1A1_000502"	"g.48270373G>A"	""	""	""	"COL1A1(NM_000088.3):c.1803C>T (p.P601=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50193012G>A"	""	"benign"	""
"0000268253"	"0"	"10"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"02329"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	"COL1A1(NM_000088.3):c.1984-5C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50192029G>T"	""	"benign"	""
"0000268254"	"0"	"30"	"17"	"48269391"	"48269391"	"subst"	"4.5921E-5"	"02329"	"COL1A1_001510"	"g.48269391G>C"	""	""	""	"COL1A1(NM_000088.3):c.1984-6C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50192030G>C"	""	"likely benign"	""
"0000268255"	"0"	"50"	"17"	"48269244"	"48269244"	"subst"	"0"	"02329"	"COL1A1_001509"	"g.48269244C>T"	""	""	""	"COL1A1(NM_000088.3):c.2032G>A (p.E678K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50191883C>T"	""	"VUS"	""
"0000268256"	"0"	"90"	"17"	"48269238"	"48269238"	"del"	"0"	"02329"	"COL1A1_001508"	"g.48269238del"	""	""	""	"COL1A1(NM_000088.3):c.2039delG (p.G680Vfs*86)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50191877del"	""	"pathogenic"	""
"0000268257"	"0"	"90"	"17"	"48269166"	"48269166"	"subst"	"0"	"02329"	"COL1A1_000106"	"g.48269166C>T"	""	""	""	"COL1A1(NM_000088.3):c.2110G>A (p.G704S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50191805C>T"	""	"pathogenic"	""
"0000268258"	"0"	"10"	"17"	"48268804"	"48268804"	"subst"	"0.00267225"	"02329"	"COL1A1_000504"	"g.48268804G>A"	""	""	""	"COL1A1(NM_000088.3):c.2175C>T (p.G725=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50191443G>A"	""	"benign"	""
"0000268259"	"0"	"90"	"17"	"48267939"	"48267939"	"subst"	"0"	"02329"	"COL1A1_000140"	"g.48267939C>T"	""	""	""	"COL1A1(NM_000088.3):c.2362G>A (p.G788S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000268260"	"0"	"30"	"17"	"48267487"	"48267487"	"subst"	"1.63088E-5"	"02329"	"COL1A1_001494"	"g.48267487G>T"	""	""	""	"COL1A1(NM_000088.3):c.2452-18C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50190126G>T"	""	"likely benign"	""
"0000268261"	"0"	"30"	"17"	"48267454"	"48267454"	"subst"	"0.000333754"	"02329"	"COL1A1_001493"	"g.48267454G>C"	""	""	""	"COL1A1(NM_000088.3):c.2467C>G (p.P823A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50190093G>C"	""	"likely benign"	""
"0000268262"	"0"	"10"	"17"	"48267291"	"48267291"	"subst"	"0.521741"	"02329"	"COL1A1_001491"	"g.48267291G>C"	""	""	""	"COL1A1(NM_000088.3):c.2560-18C>G, COL1A1(NM_000088.4):c.2560-18C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50189930G>C"	""	"benign"	""
"0000268263"	"0"	"10"	"17"	"48267206"	"48267206"	"subst"	"0.00325916"	"02329"	"COL1A1_001489"	"g.48267206C>T"	""	""	""	"COL1A1(NM_000088.3):c.2613+14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50189845C>T"	""	"benign"	""
"0000268264"	"0"	"90"	"17"	"48267063"	"48267063"	"subst"	"0"	"02329"	"COL1A1_000236"	"g.48267063G>A"	""	""	""	"COL1A1(NM_000088.3):c.2644C>T (p.R882*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000268265"	"0"	"10"	"17"	"48277081"	"48277081"	"del"	"0"	"02329"	"COL1A1_001567"	"g.48277081del"	""	""	""	"COL1A1(NM_000088.3):c.298+14_298+34delCGGGGCCTGGGGCCTGGGGCCinsCGGGGCCTGGGGCCTGGGGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50199720del"	""	"benign"	""
"0000268266"	"0"	"10"	"17"	"48276971"	"48276971"	"subst"	"0.627359"	"02329"	"COL1A1_001566"	"g.48276971G>C"	""	""	""	"COL1A1(NM_000088.3):c.299-20C>G, COL1A1(NM_000088.4):c.299-20C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50199610G>C"	""	"benign"	""
"0000268267"	"0"	"10"	"17"	"48266176"	"48266177"	"del"	"0"	"02329"	"COL1A1_001482"	"g.48266176_48266177del"	""	""	""	"COL1A1(NM_000088.3):c.3046-6_3046-5delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50188815_50188816del"	""	"benign"	""
"0000268268"	"0"	"90"	"17"	"48266137"	"48266137"	"subst"	"0"	"02329"	"COL1A1_000183"	"g.48266137C>A"	""	""	""	"COL1A1(NM_000088.3):c.3065G>T (p.G1022V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000268269"	"0"	"10"	"17"	"48265495"	"48265495"	"subst"	"0.985073"	"02329"	"COL1A1_001462"	"g.48265495T>C"	""	""	""	"COL1A1(NM_000088.3):c.3223A>G (p.T1075A), COL1A1(NM_000088.4):c.3223A>G (p.T1075A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50188134="	""	"benign"	""
"0000268270"	"0"	"30"	"17"	"48264403"	"48264403"	"subst"	"4.91018E-5"	"02329"	"COL1A1_001458"	"g.48264403G>A"	""	""	""	"COL1A1(NM_000088.3):c.3504C>T (p.R1168=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50187042G>A"	""	"likely benign"	""
"0000268271"	"0"	"30"	"17"	"48264366"	"48264366"	"subst"	"0.0072255"	"02329"	"COL1A1_001457"	"g.48264366G>T"	""	""	""	"COL1A1(NM_000088.3):c.3531+10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50187005G>T"	""	"likely benign"	""
"0000268272"	"0"	"30"	"17"	"48276673"	"48276673"	"subst"	"6.85176E-6"	"02329"	"COL1A1_001560"	"g.48276673G>A"	""	""	""	"COL1A1(NM_000088.3):c.385C>T (p.P129S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50199312G>A"	""	"likely benign"	""
"0000268273"	"0"	"90"	"17"	"48276677"	"48276677"	"del"	"0"	"02329"	"COL1A1_000288"	"g.48276677del"	""	""	""	"COL1A1(NM_000088.3):c.386delC (p.P129Lfs*136)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50199316del"	""	"pathogenic"	""
"0000268274"	"0"	"10"	"17"	"48263786"	"48263786"	"subst"	"0.00134814"	"02329"	"COL1A1_001447"	"g.48263786G>A"	""	""	""	"COL1A1(NM_000088.3):c.3897C>T (p.C1299=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50186425G>A"	""	"benign"	""
"0000268275"	"0"	"30"	"17"	"48263369"	"48263369"	"subst"	"0.00065995"	"02329"	"COL1A1_000539"	"g.48263369C>T"	""	""	""	"COL1A1(NM_000088.3):c.4018G>A (p.G1340S), COL1A1(NM_000088.4):c.4018G>A (p.(Gly1340Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50186008C>T"	""	"likely benign"	""
"0000268276"	"0"	"10"	"17"	"48263274"	"48263274"	"subst"	"0.00135661"	"02329"	"COL1A1_000512"	"g.48263274C>T"	""	""	""	"COL1A1(NM_000088.3):c.4113G>A (p.K1371=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50185913C>T"	""	"benign"	""
"0000268277"	"0"	"10"	"17"	"48263208"	"48263208"	"subst"	"0.00290962"	"02329"	"COL1A1_000513"	"g.48263208G>A"	""	""	""	"COL1A1(NM_000088.3):c.4179C>T (p.S1393=, p.=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50185847G>A"	""	"benign"	""
"0000268278"	"0"	"10"	"17"	"48263021"	"48263021"	"subst"	"0.591362"	"02329"	"COL1A1_001439"	"g.48263021C>T"	""	""	""	"COL1A1(NM_000088.3):c.4249-12G>A, COL1A1(NM_000088.4):c.4249-12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50185660C>T"	""	"benign"	""
"0000268279"	"0"	"30"	"17"	"48278833"	"48278833"	"subst"	"0"	"02329"	"COL1A1_001573"	"g.48278833C>G"	""	""	""	"COL1A1(NM_000088.3):c.42G>C (p.A14=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50201472C>G"	""	"likely benign"	""
"0000268280"	"0"	"10"	"17"	"48275292"	"48275292"	"subst"	"0.0472454"	"02329"	"COL1A1_001548"	"g.48275292T>G"	""	""	""	"COL1A1(NM_000088.3):c.642+18A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50197931T>G"	""	"benign"	""
"0000268281"	"0"	"90"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"02329"	"COL1A1_000012"	"g.48275131G>A"	""	""	""	"COL1A1(NM_000088.3):c.658C>T (p.R220*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000268282"	"0"	"10"	"17"	"48274529"	"48274529"	"subst"	"0.00103142"	"02329"	"COL1A1_001542"	"g.48274529C>A"	""	""	""	"COL1A1(NM_000088.3):c.750+12G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50197168C>A"	""	"benign"	""
"0000268283"	"0"	"30"	"17"	"48274430"	"48274430"	"subst"	"0"	"02329"	"COL1A1_001541"	"g.48274430G>A"	""	""	""	"COL1A1(NM_000088.3):c.751-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50197069G>A"	""	"likely benign"	""
"0000273946"	"0"	"30"	"17"	"48272623"	"48272623"	"subst"	"0.000278851"	"01943"	"COL1A1_001523"	"g.48272623G>A"	""	""	""	"COL1A1(NM_000088.3):c.1269C>T (p.P423=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195262G>A"	""	"likely benign"	""
"0000273947"	"0"	"50"	"17"	"48265991"	"48265991"	"subst"	"1.22072E-5"	"01943"	"COL1A1_001474"	"g.48265991C>T"	""	""	""	"COL1A1(NM_000088.3):c.3107G>A (p.R1036H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50188630C>T"	""	"VUS"	""
"0000273948"	"0"	"50"	"17"	"48265922"	"48265922"	"subst"	"2.44716E-5"	"01943"	"COL1A1_001470"	"g.48265922G>A"	""	""	""	"COL1A1(NM_000088.3):c.3176C>T (p.P1059L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50188561G>A"	""	"VUS"	""
"0000273949"	"0"	"30"	"17"	"48263208"	"48263208"	"subst"	"0.00290962"	"01943"	"COL1A1_000513"	"g.48263208G>A"	""	""	""	"COL1A1(NM_000088.3):c.4179C>T (p.S1393=, p.=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50185847G>A"	""	"likely benign"	""
"0000325490"	"0"	"50"	"17"	"48265911"	"48265911"	"subst"	"0"	"01804"	"COL1A1_001469"	"g.48265911T>C"	""	""	""	"COL1A1(NM_000088.3):c.3187A>G (p.(Ser1063Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50188550T>C"	""	"VUS"	""
"0000345640"	"0"	"70"	"17"	"48265343"	"48265343"	"subst"	"0"	"02327"	"COL1A1_000813"	"g.48265343C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50187982C>T"	""	"likely pathogenic"	""
"0000354930"	"0"	"30"	"17"	"48262871"	"48262871"	"subst"	"0.000784872"	"01164"	"COL1A1_000784"	"g.48262871A>G"	"gnomAD 0,0008 (AC193; 1x homozygous)"	""	""	""	"PMID:25146735"	"Germline"	"?"	"rs577626107"	"0"	""	""	"g.50185510A>G"	""	"VUS"	"ACMG"
"0000394662"	"0"	"79"	"17"	"48274378"	"48274378"	"subst"	"0"	"01873"	"COL1A1_001539"	"g.48274378C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197017C>A"	""	"likely pathogenic"	""
"0000474917"	"0"	"99"	"17"	"48277202"	"48277202"	"subst"	"0"	"03235"	"COL1A1_001569"	"g.48277202G>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"no"	""	"0"	""	""	"g.50199841G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474918"	"0"	"99"	"17"	"48277202"	"48277202"	"subst"	"0"	"03235"	"COL1A1_001569"	"g.48277202G>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"no"	""	"0"	""	""	"g.50199841G>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474919"	"0"	"77"	"17"	"48276823"	"48276823"	"subst"	"0"	"03235"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PM2"	"Germline"	"no"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000474920"	"0"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03235"	"COL1A1_000287"	"g.48276677dup"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"386dupC"	"ACMG PVS 1PS3"	"Germline"	"-"	""	"0"	""	""	"g.50199316dup"	""	"pathogenic (dominant)"	"ACMG"
"0000474921"	"20"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03235"	"COL1A1_000287"	"g.48276677dup"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"386dupC"	"ACMG PVS 1PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50199316dup"	""	"pathogenic (dominant)"	"ACMG"
"0000474922"	"20"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03235"	"COL1A1_000287"	"g.48276677dup"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"386dupC"	"ACMG PVS 1PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50199316dup"	""	"pathogenic (dominant)"	"ACMG"
"0000474923"	"0"	"99"	"17"	"48276631"	"48276631"	"del"	"0"	"03235"	"COL1A1_000290"	"g.48276631del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"432delC"	"ACMG PVS 1PS3"	"Germline"	"-"	""	"0"	""	""	"g.50199270del"	""	"pathogenic (dominant)"	"ACMG"
"0000474924"	"0"	"99"	"17"	"48275309"	"48275309"	"subst"	"0"	"03235"	"COL1A1_001550"	"g.48275309C>G"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"-"	""	"0"	""	""	"g.50197948C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000474925"	"0"	"99"	"17"	"48275119"	"48275119"	"subst"	"0"	"03235"	"COL1A1_001547"	"g.48275119C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3 PP1"	"Germline"	"-"	""	"0"	""	""	"g.50197758C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000474926"	"0"	"77"	"17"	"48275090"	"48275090"	"del"	"0"	"03235"	"COL1A1_001545"	"g.48275090del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS2 PM2 PP3"	"De novo"	"-"	""	"0"	""	""	"g.50197729del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000477921"	"1"	"90"	"17"	"48278771"	"48278771"	"subst"	"0"	"00004"	"COL1A1_001572"	"g.48278771C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50201410C>G"	""	"pathogenic (dominant)"	""
"0000477922"	"1"	"90"	"17"	"48277309"	"48277309"	"subst"	"0"	"00004"	"COL1A1_001570"	"g.48277309C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199948C>A"	""	"pathogenic (dominant)"	""
"0000477923"	"1"	"90"	"17"	"48276953"	"48276953"	"subst"	"0"	"00004"	"COL1A1_001565"	"g.48276953T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199592T>C"	""	"pathogenic (dominant)"	""
"0000477924"	"1"	"90"	"17"	"48276952"	"48276952"	"subst"	"0"	"00004"	"COL1A1_001088"	"g.48276952C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199591C>T"	""	"pathogenic (dominant)"	""
"0000477925"	"1"	"90"	"17"	"48276952"	"48276952"	"subst"	"0"	"00004"	"COL1A1_001088"	"g.48276952C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199591C>T"	""	"pathogenic (dominant)"	""
"0000477926"	"1"	"90"	"17"	"48276952"	"48276952"	"subst"	"0"	"00004"	"COL1A1_000552"	"g.48276952C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199591C>G"	""	"pathogenic (dominant)"	""
"0000477927"	"1"	"90"	"17"	"48276916"	"48276916"	"subst"	"0"	"00004"	"COL1A1_001126"	"g.48276916C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199555C>T"	""	"pathogenic (dominant)"	""
"0000477928"	"1"	"90"	"17"	"48276916"	"48276916"	"subst"	"0"	"00004"	"COL1A1_001564"	"g.48276916C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199555C>A"	""	"pathogenic (dominant)"	""
"0000477929"	"1"	"70"	"17"	"48276914"	"48276914"	"subst"	"0"	"00004"	"COL1A1_001563"	"g.48276914T>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199553T>A"	""	"likely pathogenic"	""
"0000477930"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477931"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477932"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477933"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477934"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477935"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477936"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477937"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477938"	"1"	"70"	"17"	"48276823"	"48276823"	"subst"	"0"	"00004"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199462T>C"	""	"likely pathogenic"	""
"0000477939"	"1"	"90"	"17"	"48276586"	"48276586"	"subst"	"0"	"00004"	"COL1A1_000202"	"g.48276586C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199225C>T"	""	"pathogenic (dominant)"	""
"0000477940"	"1"	"90"	"17"	"48276586"	"48276586"	"subst"	"0"	"00004"	"COL1A1_000202"	"g.48276586C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199225C>T"	""	"pathogenic (dominant)"	""
"0000477941"	"1"	"90"	"17"	"48276586"	"48276586"	"subst"	"0"	"00004"	"COL1A1_000202"	"g.48276586C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50199225C>T"	""	"pathogenic (dominant)"	""
"0000477942"	"1"	"90"	"17"	"48276586"	"48276586"	"subst"	"0"	"00004"	"COL1A1_000202"	"g.48276586C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199225C>T"	""	"pathogenic (dominant)"	""
"0000477943"	"1"	"90"	"17"	"48275793"	"48275793"	"subst"	"0"	"00004"	"COL1A1_001556"	"g.48275793C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198432C>A"	""	"pathogenic (dominant)"	""
"0000477944"	"1"	"90"	"17"	"48275792"	"48275792"	"subst"	"0"	"00004"	"COL1A1_001555"	"g.48275792A>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198431A>T"	""	"pathogenic (dominant)"	""
"0000477945"	"1"	"70"	"17"	"48275789"	"48275789"	"subst"	"0"	"00004"	"COL1A1_000884"	"g.48275789C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198428C>T"	""	"likely pathogenic"	""
"0000477946"	"1"	"70"	"17"	"48275789"	"48275789"	"subst"	"0"	"00004"	"COL1A1_000884"	"g.48275789C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50198428C>T"	""	"likely pathogenic"	""
"0000477947"	"1"	"90"	"17"	"48275521"	"48275521"	"subst"	"0"	"00004"	"COL1A1_001433"	"g.48275521C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50198160C>T"	""	"pathogenic (dominant)"	""
"0000477948"	"1"	"90"	"17"	"48275521"	"48275521"	"subst"	"0"	"00004"	"COL1A1_001433"	"g.48275521C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50198160C>T"	""	"pathogenic (dominant)"	""
"0000477949"	"1"	"70"	"17"	"48275517"	"48275517"	"subst"	"0"	"00004"	"COL1A1_001139"	"g.48275517C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198156C>T"	""	"likely pathogenic"	""
"0000477950"	"1"	"90"	"17"	"48275364"	"48275364"	"subst"	"0"	"00004"	"COL1A1_001552"	"g.48275364C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198003C>T"	""	"pathogenic (dominant)"	""
"0000477951"	"1"	"90"	"17"	"48275148"	"48275148"	"subst"	"0"	"00004"	"COL1A1_000774"	"g.48275148T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50197787T>C"	""	"pathogenic (dominant)"	""
"0000477952"	"1"	"90"	"17"	"48275092"	"48275092"	"subst"	"0"	"00004"	"COL1A1_000649"	"g.48275092C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197731C>T"	""	"pathogenic (dominant)"	""
"0000477953"	"1"	"90"	"17"	"48274596"	"48274596"	"subst"	"0"	"00004"	"COL1A1_000375"	"g.48274596T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197235T>C"	""	"pathogenic (dominant)"	""
"0000477954"	"1"	"90"	"17"	"48274595"	"48274595"	"subst"	"0"	"00004"	"COL1A1_001544"	"g.48274595C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50197234C>T"	""	"pathogenic (dominant)"	""
"0000477955"	"1"	"90"	"17"	"48274595"	"48274595"	"subst"	"0"	"00004"	"COL1A1_000723"	"g.48274595C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197234C>G"	""	"pathogenic (dominant)"	""
"0000477956"	"1"	"90"	"17"	"48274426"	"48274426"	"subst"	"0"	"00004"	"COL1A1_001540"	"g.48274426T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50197065T>C"	""	"pathogenic (dominant)"	""
"0000477957"	"1"	"90"	"17"	"48273977"	"48273977"	"subst"	"0"	"00004"	"COL1A1_000380"	"g.48273977C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50196616C>A"	""	"pathogenic (dominant)"	""
"0000477958"	"1"	"90"	"17"	"48273890"	"48273890"	"subst"	"0"	"00004"	"COL1A1_000382"	"g.48273890C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50196529C>T"	""	"pathogenic (dominant)"	""
"0000477959"	"1"	"90"	"17"	"48273890"	"48273890"	"subst"	"0"	"00004"	"COL1A1_000382"	"g.48273890C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196529C>T"	""	"pathogenic (dominant)"	""
"0000477960"	"1"	"90"	"17"	"48273844"	"48273844"	"subst"	"4.06128E-6"	"00004"	"COL1A1_000625"	"g.48273844C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50196483C>T"	""	"pathogenic (dominant)"	""
"0000477961"	"1"	"70"	"17"	"48273673"	"48273673"	"dup"	"0"	"00004"	"COL1A1_001535"	"g.48273673dup"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"957+2dupT"	""	"Germline"	""	""	"0"	""	""	"g.50196312dup"	""	"likely pathogenic"	""
"0000477962"	"1"	"90"	"17"	"48273561"	"48273561"	"subst"	"0"	"00004"	"COL1A1_001435"	"g.48273561C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50196200C>T"	""	"pathogenic (dominant)"	""
"0000477963"	"1"	"90"	"17"	"48273283"	"48273283"	"subst"	"0"	"00004"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195922C>T"	""	"pathogenic (dominant)"	""
"0000477964"	"1"	"90"	"17"	"48273283"	"48273283"	"subst"	"0"	"00004"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195922C>T"	""	"pathogenic (dominant)"	""
"0000477965"	"1"	"90"	"17"	"48273028"	"48273028"	"subst"	"0"	"00004"	"COL1A1_001532"	"g.48273028T>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195667T>A"	""	"pathogenic (dominant)"	""
"0000477966"	"1"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"00004"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic (dominant)"	""
"0000477967"	"1"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"00004"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic (dominant)"	""
"0000477968"	"1"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"00004"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic (dominant)"	""
"0000477969"	"1"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"00004"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195566C>G"	""	"pathogenic (dominant)"	""
"0000477970"	"1"	"70"	"17"	"48272921"	"48272924"	"del"	"0"	"00004"	"COL1A1_001529"	"g.48272921_48272924del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"1155+4_1155+7delAGTG"	""	"Germline"	""	""	"0"	""	""	"g.50195560_50195563del"	""	"likely pathogenic"	""
"0000477971"	"1"	"70"	"17"	"48272923"	"48272923"	"subst"	"0"	"00004"	"COL1A1_001530"	"g.48272923C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195562C>G"	""	"likely pathogenic"	""
"0000477972"	"1"	"90"	"17"	"48272840"	"48272840"	"subst"	"0"	"00004"	"COL1A1_000824"	"g.48272840C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195479C>T"	""	"pathogenic (dominant)"	""
"0000477973"	"1"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"00004"	"COL1A1_000397"	"g.48272794C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195433C>T"	""	"pathogenic (dominant)"	""
"0000477974"	"1"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"00004"	"COL1A1_000397"	"g.48272794C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195433C>T"	""	"pathogenic (dominant)"	""
"0000477975"	"1"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"00004"	"COL1A1_000397"	"g.48272794C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Willing et al 1994"	""	""	"Skips exon 18, activates cryptic splice site in exon 18 (PTC)."	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195433C>T"	""	"pathogenic (dominant)"	""
"0000477976"	"1"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"00004"	"COL1A1_001086"	"g.48272794C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195433C>A"	""	"pathogenic (dominant)"	""
"0000477977"	"1"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"00004"	"COL1A1_001086"	"g.48272794C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195433C>A"	""	"pathogenic (dominant)"	""
"0000477978"	"1"	"99"	"17"	"48272794"	"48272795"	"del"	"0"	"00004"	"COL1A1_001218"	"g.48272794_48272795del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"1200+1_1201+2delGT"	""	"Germline"	""	""	"0"	""	""	"g.50195433_50195434del"	""	"pathogenic (dominant)"	""
"0000477979"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477980"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477981"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477982"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477983"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477984"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477985"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477986"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477987"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477988"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477989"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477990"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477991"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477992"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477993"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477994"	"1"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"00004"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000477995"	"1"	"70"	"17"	"48272588"	"48272588"	"subst"	"0"	"00004"	"COL1A1_001216"	"g.48272588C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195227C>T"	""	"likely pathogenic"	""
"0000477996"	"1"	"70"	"17"	"48272588"	"48272588"	"subst"	"0"	"00004"	"COL1A1_001216"	"g.48272588C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195227C>T"	""	"likely pathogenic"	""
"0000477997"	"1"	"90"	"17"	"48272462"	"48272462"	"subst"	"0"	"00004"	"COL1A1_001009"	"g.48272462C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195101C>T"	""	"pathogenic (dominant)"	""
"0000477998"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000477999"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478000"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478001"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478002"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478003"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478004"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478005"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478006"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478007"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478008"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478009"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478010"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478011"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478012"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478013"	"1"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"00004"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000478014"	"1"	"90"	"17"	"48272191"	"48272191"	"subst"	"0"	"00004"	"COL1A1_000405"	"g.48272191T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194830T>C"	""	"pathogenic (dominant)"	""
"0000478015"	"1"	"90"	"17"	"48272190"	"48272190"	"subst"	"0"	"00004"	"COL1A1_001210"	"g.48272190C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194829C>T"	""	"pathogenic (dominant)"	""
"0000478016"	"1"	"90"	"17"	"48272190"	"48272190"	"subst"	"0"	"00004"	"COL1A1_001211"	"g.48272190C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194829C>A"	""	"pathogenic (dominant)"	""
"0000478017"	"1"	"70"	"17"	"48271931"	"48271931"	"subst"	"0"	"00004"	"COL1A1_000407"	"g.48271931T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194570T>C"	""	"likely pathogenic"	""
"0000478018"	"1"	"90"	"17"	"48271810"	"48271810"	"subst"	"0"	"00004"	"COL1A1_001205"	"g.48271810T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194449T>C"	""	"pathogenic (dominant)"	""
"0000478019"	"1"	"90"	"17"	"48271810"	"48271810"	"subst"	"0"	"00004"	"COL1A1_001205"	"g.48271810T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194449T>C"	""	"pathogenic (dominant)"	""
"0000478020"	"1"	"90"	"17"	"48271809"	"48271809"	"subst"	"0"	"00004"	"COL1A1_001203"	"g.48271809C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194448C>G"	""	"pathogenic (dominant)"	""
"0000478021"	"1"	"90"	"17"	"48271809"	"48271809"	"subst"	"0"	"00004"	"COL1A1_000408"	"g.48271809C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194448C>A"	""	"pathogenic (dominant)"	""
"0000478022"	"1"	"90"	"17"	"48271709"	"48271709"	"subst"	"0"	"00004"	"COL1A1_001516"	"g.48271709C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194348C>G"	""	"pathogenic (dominant)"	""
"0000478023"	"1"	"90"	"17"	"48271545"	"48271545"	"subst"	"0"	"00004"	"COL1A1_000466"	"g.48271545C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194184C>G"	""	"pathogenic (dominant)"	""
"0000478024"	"1"	"90"	"17"	"48271545"	"48271545"	"subst"	"0"	"00004"	"COL1A1_000917"	"g.48271545C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194184C>A"	""	"pathogenic (dominant)"	""
"0000478025"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478026"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478027"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478028"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478029"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478030"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478031"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478032"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478033"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478034"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478035"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478036"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478037"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478038"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478039"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000478040"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00004"	"COL1A1_001195"	"g.48270354C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192993C>G"	""	"pathogenic (dominant)"	""
"0000478041"	"1"	"90"	"17"	"48270055"	"48270055"	"subst"	"0"	"00004"	"COL1A1_001191"	"g.48270055C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192694C>T"	""	"pathogenic (dominant)"	""
"0000478042"	"1"	"90"	"17"	"48270000"	"48270000"	"subst"	"0"	"00004"	"COL1A1_001189"	"g.48270000C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192639C>T"	""	"pathogenic (dominant)"	""
"0000478043"	"1"	"90"	"17"	"48270000"	"48270000"	"subst"	"0"	"00004"	"COL1A1_001190"	"g.48270000C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192639C>G"	""	"pathogenic (dominant)"	""
"0000478044"	"1"	"90"	"17"	"48269891"	"48269891"	"subst"	"0"	"00004"	"COL1A1_001022"	"g.48269891T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192530T>C"	""	"pathogenic (dominant)"	""
"0000478045"	"1"	"90"	"17"	"48269890"	"48269890"	"subst"	"0"	"00004"	"COL1A1_001186"	"g.48269890C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192529C>T"	""	"pathogenic (dominant)"	""
"0000478046"	"1"	"90"	"17"	"48269890"	"48269890"	"subst"	"0"	"00004"	"COL1A1_001187"	"g.48269890C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192529C>G"	""	"pathogenic (dominant)"	""
"0000478047"	"1"	"90"	"17"	"48269835"	"48269835"	"subst"	"0"	"00004"	"COL1A1_001185"	"g.48269835C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192474C>T"	""	"pathogenic (dominant)"	""
"0000478048"	"1"	"70"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"00004"	"COL1A1_000423"	"g.48269390G>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192029G>T"	""	"likely pathogenic"	""
"0000478049"	"1"	"90"	"17"	"48269386"	"48269386"	"subst"	"0"	"00004"	"COL1A1_001183"	"g.48269386C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50192025C>T"	""	"pathogenic (dominant)"	""
"0000478050"	"1"	"90"	"17"	"48269248"	"48269248"	"subst"	"0"	"00004"	"COL1A1_001162"	"g.48269248C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191887C>T"	""	"pathogenic (dominant)"	""
"0000478051"	"1"	"90"	"17"	"48269148"	"48269148"	"subst"	"0"	"00004"	"COL1A1_001181"	"g.48269148C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191787C>T"	""	"pathogenic (dominant)"	""
"0000478052"	"1"	"90"	"17"	"48268852"	"48268852"	"subst"	"0"	"00004"	"COL1A1_000427"	"g.48268852C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50191491C>T"	""	"pathogenic (dominant)"	""
"0000478053"	"1"	"90"	"17"	"48268852"	"48268852"	"subst"	"0"	"00004"	"COL1A1_000427"	"g.48268852C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191491C>T"	""	"pathogenic (dominant)"	""
"0000478054"	"1"	"90"	"17"	"48268287"	"48268287"	"subst"	"0"	"00004"	"COL1A1_001059"	"g.48268287T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190926T>C"	""	"pathogenic (dominant)"	""
"0000478055"	"1"	"90"	"17"	"48268177"	"48268177"	"subst"	"0"	"00004"	"COL1A1_000866"	"g.48268177C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50190816C>T"	""	"pathogenic (dominant)"	""
"0000478056"	"1"	"70"	"17"	"48267988"	"48267988"	"subst"	"0.000618634"	"00004"	"COL1A1_001500"	"g.48267988A>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190627A>T"	""	"likely pathogenic"	""
"0000478057"	"1"	"90"	"17"	"48267958"	"48267958"	"subst"	"0"	"00004"	"COL1A1_000728"	"g.48267958C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190597C>T"	""	"pathogenic (dominant)"	""
"0000478058"	"1"	"90"	"17"	"48267958"	"48267958"	"subst"	"0"	"00004"	"COL1A1_000728"	"g.48267958C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190597C>T"	""	"pathogenic (dominant)"	""
"0000478059"	"1"	"90"	"17"	"48267742"	"48267742"	"subst"	"0"	"00004"	"COL1A1_001499"	"g.48267742C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190381C>T"	""	"pathogenic (dominant)"	""
"0000478060"	"1"	"90"	"17"	"48267687"	"48267687"	"subst"	"0"	"00004"	"COL1A1_001027"	"g.48267687C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190326C>T"	""	"pathogenic (dominant)"	""
"0000478061"	"1"	"90"	"17"	"48267687"	"48267687"	"subst"	"0"	"00004"	"COL1A1_001027"	"g.48267687C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50190326C>T"	""	"pathogenic (dominant)"	""
"0000478062"	"1"	"90"	"17"	"48267687"	"48267687"	"subst"	"0"	"00004"	"COL1A1_001498"	"g.48267687C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50190326C>A"	""	"pathogenic (dominant)"	""
"0000478063"	"1"	"90"	"17"	"48267687"	"48267687"	"subst"	"0"	"00004"	"COL1A1_001498"	"g.48267687C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50190326C>A"	""	"pathogenic (dominant)"	""
"0000478064"	"1"	"70"	"17"	"48267683"	"48267683"	"subst"	"0"	"00004"	"COL1A1_001087"	"g.48267683C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190322C>T"	""	"likely pathogenic"	""
"0000478065"	"1"	"70"	"17"	"48267683"	"48267683"	"subst"	"0"	"00004"	"COL1A1_001087"	"g.48267683C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190322C>T"	""	"likely pathogenic"	""
"0000478066"	"1"	"70"	"17"	"48267683"	"48267683"	"subst"	"0"	"00004"	"COL1A1_001087"	"g.48267683C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190322C>T"	""	"likely pathogenic"	""
"0000478067"	"1"	"70"	"17"	"48267683"	"48267683"	"subst"	"0"	"00004"	"COL1A1_001087"	"g.48267683C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50190322C>T"	""	"likely pathogenic"	""
"0000478068"	"1"	"90"	"17"	"48267675"	"48267693"	"del"	"0"	"00004"	"COL1A1_001497"	"g.48267675_48267693del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190314_50190332del"	""	"pathogenic (dominant)"	""
"0000478069"	"1"	"90"	"17"	"48267471"	"48267471"	"subst"	"0"	"00004"	"COL1A1_000836"	"g.48267471T>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190110T>A"	""	"pathogenic (dominant)"	""
"0000478070"	"1"	"90"	"17"	"48267470"	"48267470"	"subst"	"0"	"00004"	"COL1A1_000432"	"g.48267470C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50190109C>T"	""	"pathogenic (dominant)"	""
"0000478071"	"1"	"90"	"17"	"48267360"	"48267360"	"subst"	"0"	"00004"	"COL1A1_001492"	"g.48267360A>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189999A>T"	""	"pathogenic (dominant)"	""
"0000478072"	"1"	"90"	"17"	"48267274"	"48267274"	"subst"	"0"	"00004"	"COL1A1_000434"	"g.48267274C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189913C>T"	""	"pathogenic (dominant)"	""
"0000478073"	"1"	"90"	"17"	"48267274"	"48267274"	"subst"	"0"	"00004"	"COL1A1_000434"	"g.48267274C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189913C>T"	""	"pathogenic (dominant)"	""
"0000478074"	"1"	"90"	"17"	"48267274"	"48267274"	"subst"	"0"	"00004"	"COL1A1_000434"	"g.48267274C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189913C>T"	""	"pathogenic (dominant)"	""
"0000478075"	"1"	"90"	"17"	"48267274"	"48267274"	"subst"	"0"	"00004"	"COL1A1_000434"	"g.48267274C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189913C>T"	""	"pathogenic (dominant)"	""
"0000478076"	"1"	"90"	"17"	"48267274"	"48267274"	"subst"	"0"	"00004"	"COL1A1_000434"	"g.48267274C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189913C>T"	""	"pathogenic (dominant)"	""
"0000478077"	"1"	"70"	"17"	"48267036"	"48267039"	"del"	"0"	"00004"	"COL1A1_000882"	"g.48267036_48267039del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"2667+3_2667+6delAAGT"	""	"Germline"	"yes"	""	"0"	""	""	"g.50189675_50189678del"	""	"likely pathogenic"	""
"0000478078"	"1"	"90"	"17"	"48266900"	"48266900"	"subst"	"0"	"00004"	"COL1A1_000730"	"g.48266900C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189539C>T"	""	"pathogenic (dominant)"	""
"0000478079"	"1"	"90"	"17"	"48266737"	"48266737"	"subst"	"0"	"00004"	"COL1A1_000435"	"g.48266737C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189376C>T"	""	"pathogenic (dominant)"	""
"0000478080"	"1"	"90"	"17"	"48266737"	"48266737"	"subst"	"0"	"00004"	"COL1A1_000435"	"g.48266737C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189376C>T"	""	"pathogenic (dominant)"	""
"0000478081"	"1"	"70"	"17"	"48266639"	"48266639"	"subst"	"0"	"00004"	"COL1A1_000732"	"g.48266639T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189278T>C"	""	"likely pathogenic"	""
"0000478082"	"1"	"90"	"17"	"48266639"	"48266639"	"subst"	"0"	"00004"	"COL1A1_000732"	"g.48266639T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189278T>C"	""	"pathogenic (dominant)"	""
"0000478083"	"1"	"90"	"17"	"48266373"	"48266373"	"subst"	"0"	"00004"	"COL1A1_001487"	"g.48266373T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"2938-2G>G"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189012T>C"	""	"pathogenic (dominant)"	""
"0000478084"	"1"	"90"	"17"	"48266372"	"48266372"	"subst"	"0"	"00004"	"COL1A1_001486"	"g.48266372C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50189011C>T"	""	"pathogenic (dominant)"	""
"0000478085"	"1"	"90"	"17"	"48266263"	"48266263"	"subst"	"0"	"00004"	"COL1A1_000870"	"g.48266263C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188902C>T"	""	"pathogenic (dominant)"	""
"0000478086"	"1"	"90"	"17"	"48266263"	"48266263"	"subst"	"0"	"00004"	"COL1A1_000870"	"g.48266263C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188902C>T"	""	"pathogenic (dominant)"	""
"0000478087"	"1"	"90"	"17"	"48266263"	"48266263"	"subst"	"0"	"00004"	"COL1A1_001483"	"g.48266263C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188902C>A"	""	"pathogenic (dominant)"	""
"0000478088"	"1"	"90"	"17"	"48266102"	"48266102"	"subst"	"0"	"00004"	"COL1A1_001479"	"g.48266102C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188741C>T"	""	"pathogenic (dominant)"	""
"0000478089"	"1"	"90"	"17"	"48265999"	"48265999"	"subst"	"0"	"00004"	"COL1A1_001476"	"g.48265999C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188638C>T"	""	"pathogenic (dominant)"	""
"0000478090"	"1"	"90"	"17"	"48265999"	"48265999"	"subst"	"0"	"00004"	"COL1A1_001476"	"g.48265999C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188638C>T"	""	"pathogenic (dominant)"	""
"0000478091"	"1"	"90"	"17"	"48265999"	"48265999"	"subst"	"0"	"00004"	"COL1A1_001476"	"g.48265999C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188638C>T"	""	"pathogenic (dominant)"	""
"0000478092"	"1"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"00004"	"COL1A1_000752"	"g.48265890C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188529C>T"	""	"pathogenic (dominant)"	""
"0000478093"	"1"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"00004"	"COL1A1_000752"	"g.48265890C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188529C>T"	""	"pathogenic (dominant)"	""
"0000478094"	"1"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"00004"	"COL1A1_000752"	"g.48265890C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188529C>T"	""	"pathogenic (dominant)"	""
"0000478095"	"1"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"00004"	"COL1A1_000752"	"g.48265890C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188529C>T"	""	"pathogenic (dominant)"	""
"0000478096"	"1"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"00004"	"COL1A1_001468"	"g.48265890C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188529C>G"	""	"pathogenic (dominant)"	""
"0000478097"	"1"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"00004"	"COL1A1_001468"	"g.48265890C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188529C>G"	""	"pathogenic (dominant)"	""
"0000478098"	"1"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"00004"	"COL1A1_001468"	"g.48265890C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188529C>G"	""	"pathogenic (dominant)"	""
"0000478099"	"1"	"90"	"17"	"48265889"	"48265889"	"subst"	"0"	"00004"	"COL1A1_001466"	"g.48265889A>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188528A>G"	""	"pathogenic (dominant)"	""
"0000478100"	"1"	"90"	"17"	"48265889"	"48265889"	"subst"	"0"	"00004"	"COL1A1_001466"	"g.48265889A>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188528A>G"	""	"pathogenic (dominant)"	""
"0000478101"	"1"	"90"	"17"	"48265884"	"48265890"	"del"	"0"	"00004"	"COL1A1_001465"	"g.48265884_48265890del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"3207+2_3207+8delTAAGTAG"	""	"Germline"	"yes"	""	"0"	""	""	"g.50188523_50188529del"	""	"pathogenic (dominant)"	""
"0000478102"	"1"	"70"	"17"	"48265889"	"48265889"	"dup"	"0"	"00004"	"COL1A1_001467"	"g.48265889dup"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"3207+2dupT"	""	"Germline"	"yes"	""	"0"	""	""	"g.50188528dup"	""	"likely pathogenic"	""
"0000478103"	"1"	"70"	"17"	"48265886"	"48265886"	"subst"	"0"	"00004"	"COL1A1_000444"	"g.48265886C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188525C>T"	""	"likely pathogenic"	""
"0000478104"	"1"	"70"	"17"	"48265886"	"48265886"	"subst"	"0"	"00004"	"COL1A1_000444"	"g.48265886C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50188525C>T"	""	"likely pathogenic"	""
"0000478105"	"1"	"90"	"17"	"48265345"	"48265345"	"subst"	"0"	"00004"	"COL1A1_001460"	"g.48265345C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187984C>T"	""	"pathogenic (dominant)"	""
"0000478106"	"1"	"90"	"17"	"48265236"	"48265236"	"subst"	"0"	"00004"	"COL1A1_000527"	"g.48265236C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50187875C>T"	""	"pathogenic (dominant)"	""
"0000478107"	"1"	"90"	"17"	"48265236"	"48265236"	"subst"	"0"	"00004"	"COL1A1_000527"	"g.48265236C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50187875C>T"	""	"pathogenic (dominant)"	""
"0000478108"	"1"	"90"	"17"	"48265236"	"48265236"	"subst"	"0"	"00004"	"COL1A1_000527"	"g.48265236C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50187875C>T"	""	"pathogenic (dominant)"	""
"0000478109"	"1"	"90"	"17"	"48265236"	"48265236"	"subst"	"0"	"00004"	"COL1A1_001459"	"g.48265236C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187875C>A"	""	"pathogenic (dominant)"	""
"0000478110"	"1"	"70"	"17"	"48264489"	"48264489"	"subst"	"0"	"00004"	"COL1A1_000875"	"g.48264489G>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50187128G>C"	""	"likely pathogenic"	""
"0000478111"	"1"	"90"	"17"	"48264375"	"48264375"	"subst"	"0"	"00004"	"COL1A1_000449"	"g.48264375C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Willing et al 1994"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50187014C>T"	""	"pathogenic (dominant)"	""
"0000478112"	"1"	"90"	"17"	"48264374"	"48264374"	"subst"	"0"	"00004"	"COL1A1_001145"	"g.48264374A>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50187013A>G"	""	"pathogenic (dominant)"	""
"0000478113"	"1"	"90"	"17"	"48264284"	"48264284"	"subst"	"0"	"00004"	"COL1A1_001456"	"g.48264284C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50186923C>T"	""	"pathogenic (dominant)"	""
"0000478114"	"1"	"90"	"17"	"48264000"	"48264000"	"subst"	"0"	"00004"	"COL1A1_001451"	"g.48264000C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50186639C>G"	""	"pathogenic (dominant)"	""
"0000478115"	"1"	"90"	"17"	"48263999"	"48263999"	"subst"	"0"	"00004"	"COL1A1_001450"	"g.48263999A>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186638A>G"	""	"pathogenic (dominant)"	""
"0000478116"	"1"	"90"	"17"	"48263999"	"48263999"	"subst"	"0"	"00004"	"COL1A1_001135"	"g.48263999A>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186638A>C"	""	"pathogenic (dominant)"	""
"0000478117"	"1"	"70"	"17"	"48263871"	"48263871"	"subst"	"0"	"00004"	"COL1A1_001448"	"g.48263871G>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50186510G>C"	""	"likely pathogenic"	""
"0000478118"	"1"	"90"	"17"	"48263870"	"48263870"	"subst"	"0"	"00004"	"COL1A1_001127"	"g.48263870T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186509T>C"	""	"pathogenic (dominant)"	""
"0000478119"	"1"	"90"	"17"	"48263677"	"48263677"	"subst"	"0"	"00004"	"COL1A1_001443"	"g.48263677C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50186316C>G"	""	"pathogenic (dominant)"	""
"0000478120"	"1"	"70"	"17"	"48263673"	"48263673"	"subst"	"6.50576E-5"	"00004"	"COL1A1_001442"	"g.48263673C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186312C>T"	""	"likely pathogenic"	""
"0000478121"	"1"	"70"	"17"	"48263414"	"48263414"	"subst"	"0.00056177"	"00004"	"COL1A1_001441"	"g.48263414C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186053C>T"	""	"likely pathogenic"	""
"0000478122"	"1"	"90"	"17"	"48263011"	"48263011"	"del"	"0"	"00004"	"COL1A1_001438"	"g.48263011del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"4249-2delA"	""	"Germline"	""	""	"0"	""	""	"g.50185650del"	""	"pathogenic (dominant)"	""
"0000478123"	"1"	"90"	"17"	"48273674"	"48273674"	"subst"	"0"	"00004"	"COL1A1_001536"	"g.48273674C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196313C>A"	""	"pathogenic (dominant)"	""
"0000478124"	"1"	"90"	"17"	"48273673"	"48273673"	"subst"	"0"	"00004"	"COL1A1_001434"	"g.48273673A>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196312A>T"	""	"pathogenic (dominant)"	""
"0000478125"	"1"	"70"	"17"	"48272403"	"48272403"	"subst"	"0"	"00004"	"COL1A1_001214"	"g.48272403C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	"Skips exon 20."	"Germline"	""	""	"0"	""	""	"g.50195042C>G"	""	"likely pathogenic"	""
"0000478126"	"1"	"90"	"17"	"48271990"	"48271990"	"subst"	"0"	"00004"	"COL1A1_001207"	"g.48271990G>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194629G>C"	""	"pathogenic (dominant)"	""
"0000478127"	"1"	"90"	"17"	"48271490"	"48271490"	"subst"	"0"	"00004"	"COL1A1_001514"	"g.48271490C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194129C>T"	""	"pathogenic (dominant)"	""
"0000478128"	"1"	"70"	"17"	"48271487"	"48271490"	"del"	"0"	"00004"	"COL1A1_001197"	"g.48271487_48271490del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"1668+4_1668+7delAGTA"	""	"Germline"	""	""	"0"	""	""	"g.50194126_50194129del"	""	"likely pathogenic"	""
"0000478129"	"1"	"90"	"17"	"48271302"	"48271302"	"subst"	"0"	"00004"	"COL1A1_001196"	"g.48271302A>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50193941A>G"	""	"pathogenic (dominant)"	""
"0000478130"	"1"	"90"	"17"	"48270213"	"48270213"	"subst"	"0"	"00004"	"COL1A1_000418"	"g.48270213T>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Pepin et al 1997"	""	""	"The variant causes skipping of exon 27."	"Germline"	""	""	"0"	""	""	"g.50192852T>G"	""	"pathogenic (dominant)"	""
"0000478131"	"1"	"90"	"17"	"48269387"	"48269387"	"subst"	"0"	"00004"	"COL1A1_000554"	"g.48269387T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192026T>C"	""	"pathogenic (dominant)"	""
"0000478132"	"1"	"90"	"17"	"48268743"	"48268743"	"subst"	"0"	"00004"	"COL1A1_000467"	"g.48268743C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic (dominant)"	""
"0000478133"	"1"	"90"	"17"	"48266000"	"48266000"	"subst"	"0"	"00004"	"COL1A1_001432"	"g.48266000T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	"Skips exon 44."	"Germline"	""	""	"0"	""	""	"g.50188639T>C"	""	"pathogenic (dominant)"	""
"0000478134"	"1"	"90"	"17"	"48266000"	"48266000"	"subst"	"0"	"00004"	"COL1A1_001477"	"g.48266000T>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188639T>G"	""	"pathogenic (dominant)"	""
"0000478135"	"1"	"90"	"17"	"48265455"	"48265455"	"subst"	"0"	"00004"	"COL1A1_001461"	"g.48265455A>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188094A>G"	""	"pathogenic (dominant)"	""
"0000478136"	"1"	"90"	"17"	"48264844"	"48264844"	"subst"	"0"	"00004"	"COL1A1_000446"	"g.48264844C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	"Skips exon 47."	"Germline"	""	""	"0"	""	""	"g.50187483C>T"	""	"pathogenic (dominant)"	""
"0000478137"	"1"	"90"	"17"	"48275309"	"48275309"	"subst"	"0"	"00004"	"COL1A1_000216"	"g.48275309C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Schwarze et al 1999"	""	""	"The mutation in this patient results in multiple forms of spliced mRNA through the activation of crytic donor splice sites in intron 7 and in exon 8"	"Germline"	""	""	"0"	""	""	"g.50197948C>T"	""	"pathogenic (dominant)"	""
"0000478138"	"1"	"70"	"17"	"48275090"	"48275090"	"subst"	"0"	"00004"	"COL1A1_001546"	"g.48275090T>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197729T>G"	""	"likely pathogenic"	""
"0000478139"	"1"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"00004"	"COL1A1_001543"	"g.48274540C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197179C>G"	""	"pathogenic (dominant)"	""
"0000478140"	"1"	"70"	"17"	"48273576"	"48273579"	"del"	"0"	"00004"	"COL1A1_000387"	"g.48273576_48273579del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	"958-18_958-15delTTCC"	""	"Germline"	""	""	"0"	""	""	"g.50196215_50196218del"	""	"likely pathogenic"	""
"0000478141"	"1"	"90"	"17"	"48273283"	"48273283"	"subst"	"0"	"00004"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195922C>T"	""	"pathogenic (dominant)"	""
"0000478142"	"1"	"90"	"17"	"48273283"	"48273283"	"subst"	"0"	"00004"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195922C>T"	""	"pathogenic (dominant)"	""
"0000478143"	"1"	"90"	"17"	"48271709"	"48271709"	"subst"	"0"	"00004"	"COL1A1_000409"	"g.48271709C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194348C>T"	""	"pathogenic (dominant)"	""
"0000478144"	"1"	"90"	"17"	"48268743"	"48268743"	"subst"	"0"	"00004"	"COL1A1_000467"	"g.48268743C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic (dominant)"	""
"0000478145"	"1"	"90"	"17"	"48264486"	"48264486"	"subst"	"0"	"00004"	"COL1A1_000447"	"g.48264486G>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Pepin et al. 1997"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187125G>C"	""	"pathogenic (dominant)"	""
"0000478146"	"1"	"90"	"17"	"48263677"	"48263677"	"subst"	"0"	"00004"	"COL1A1_001444"	"g.48263677C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186316C>T"	""	"pathogenic (dominant)"	""
"0000478147"	"1"	"90"	"17"	"48263138"	"48263138"	"subst"	"0"	"00004"	"COL1A1_001169"	"g.48263138C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50185777C>T"	""	"pathogenic (dominant)"	""
"0000478148"	"1"	"90"	"17"	"48275309"	"48275309"	"subst"	"0"	"00004"	"COL1A1_001549"	"g.48275309C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197948C>A"	""	"pathogenic (dominant)"	""
"0000478149"	"1"	"90"	"17"	"48274595"	"48274596"	"del"	"0"	"00004"	"COL1A1_000376"	"g.48274595_48274596del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"697-2_697-1delAG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197234_50197235del"	""	"pathogenic (dominant)"	""
"0000478150"	"1"	"90"	"17"	"48274595"	"48274596"	"del"	"0"	"00004"	"COL1A1_000376"	"g.48274595_48274596del"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	"697-2_697-1delAG"	""	"Germline"	""	""	"0"	""	""	"g.50197234_50197235del"	""	"pathogenic (dominant)"	""
"0000478151"	"1"	"90"	"17"	"48274595"	"48274595"	"subst"	"0"	"00004"	"COL1A1_000377"	"g.48274595C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197234C>A"	""	"pathogenic (dominant)"	""
"0000478152"	"1"	"90"	"17"	"48274595"	"48274595"	"subst"	"0"	"00004"	"COL1A1_000377"	"g.48274595C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Pepin et al 1997, Marini et al 2007"	""	""	"Skips exon 10."	"Germline"	""	""	"0"	""	""	"g.50197234C>A"	""	"pathogenic (dominant)"	""
"0000478153"	"1"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"00004"	"COL1A1_000634"	"g.48274540C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic (dominant)"	""
"0000478154"	"1"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"00004"	"COL1A1_000634"	"g.48274540C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic (dominant)"	""
"0000478155"	"1"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"00004"	"COL1A1_000826"	"g.48274540C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197179C>A"	""	"pathogenic (dominant)"	""
"0000478156"	"1"	"70"	"17"	"48273742"	"48273742"	"subst"	"0"	"00004"	"COL1A1_001537"	"g.48273742C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196381C>T"	""	"likely pathogenic"	""
"0000478157"	"1"	"90"	"17"	"48273339"	"48273339"	"subst"	"0"	"00004"	"COL1A1_000390"	"g.48273339T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195978T>C"	""	"pathogenic (dominant)"	""
"0000478158"	"1"	"90"	"17"	"48273028"	"48273028"	"subst"	"0"	"00004"	"COL1A1_000394"	"g.48273028T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195667T>C"	""	"pathogenic (dominant)"	""
"0000478159"	"1"	"90"	"17"	"48273028"	"48273028"	"subst"	"0"	"00004"	"COL1A1_000394"	"g.48273028T>C"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}, Marini et al 2007"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195667T>C"	""	"pathogenic (dominant)"	""
"0000478160"	"1"	"90"	"17"	"48273027"	"48273027"	"subst"	"0"	"00004"	"COL1A1_000934"	"g.48273027C>A"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195666C>A"	""	"pathogenic (dominant)"	""
"0000478161"	"1"	"90"	"17"	"48272081"	"48272081"	"subst"	"0"	"00004"	"COL1A1_001014"	"g.48272081C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194720C>T"	""	"pathogenic (dominant)"	""
"0000478162"	"1"	"70"	"17"	"48272077"	"48272077"	"subst"	"0"	"00004"	"COL1A1_001208"	"g.48272077C>T"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194716C>T"	""	"likely pathogenic"	""
"0000478163"	"1"	"90"	"17"	"48270055"	"48270055"	"subst"	"0"	"00004"	"COL1A1_000421"	"g.48270055C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50192694C>G"	""	"pathogenic (dominant)"	""
"0000478164"	"1"	"90"	"17"	"48265511"	"48265511"	"subst"	"0"	"00004"	"COL1A1_001463"	"g.48265511C>G"	""	"{PMID:Schleit 2015:25963598}, {DOI:Schleit 2015:10.1002/humu.22812}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188150C>G"	""	"pathogenic (dominant)"	""
"0000562138"	"0"	"50"	"17"	"48262885"	"48262885"	"subst"	"4.06891E-6"	"01943"	"COL1A1_001436"	"g.48262885A>G"	""	""	""	"COL1A1(NM_000088.3):c.4373T>C (p.V1458A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185524A>G"	""	"VUS"	""
"0000562139"	"0"	"10"	"17"	"48262977"	"48262977"	"subst"	"0.000986524"	"02329"	"COL1A1_000558"	"g.48262977A>G"	""	""	""	"COL1A1(NM_000088.3):c.4281T>C (p.I1427=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185616A>G"	""	"benign"	""
"0000562140"	"0"	"50"	"17"	"48263206"	"48263206"	"subst"	"0.000784317"	"01943"	"COL1A1_000615"	"g.48263206T>C"	""	""	""	"COL1A1(NM_000088.3):c.4181A>G (p.N1394S, p.(Asn1394Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185845T>C"	""	"VUS"	""
"0000562141"	"0"	"30"	"17"	"48263206"	"48263206"	"subst"	"0.000784317"	"01804"	"COL1A1_000615"	"g.48263206T>C"	""	""	""	"COL1A1(NM_000088.3):c.4181A>G (p.N1394S, p.(Asn1394Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185845T>C"	""	"likely benign"	""
"0000562142"	"0"	"30"	"17"	"48263206"	"48263206"	"subst"	"0.000784317"	"02329"	"COL1A1_000615"	"g.48263206T>C"	""	""	""	"COL1A1(NM_000088.3):c.4181A>G (p.N1394S, p.(Asn1394Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185845T>C"	""	"likely benign"	""
"0000562143"	"0"	"90"	"17"	"48263283"	"48263283"	"subst"	"0"	"02329"	"COL1A1_001440"	"g.48263283G>T"	""	""	""	"COL1A1(NM_000088.3):c.4104C>A (p.Y1368*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185922G>T"	""	"pathogenic"	""
"0000562144"	"0"	"30"	"17"	"48263369"	"48263369"	"subst"	"0.00065995"	"01943"	"COL1A1_000539"	"g.48263369C>T"	""	""	""	"COL1A1(NM_000088.3):c.4018G>A (p.G1340S), COL1A1(NM_000088.4):c.4018G>A (p.(Gly1340Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186008C>T"	""	"likely benign"	""
"0000562145"	"0"	"30"	"17"	"48263690"	"48263690"	"subst"	"0.000255933"	"01943"	"COL1A1_001445"	"g.48263690G>A"	""	""	""	"COL1A1(NM_000088.3):c.3993C>T (p.T1331=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186329G>A"	""	"likely benign"	""
"0000562146"	"0"	"50"	"17"	"48263704"	"48263704"	"subst"	"6.90372E-5"	"01804"	"COL1A1_001446"	"g.48263704C>T"	""	""	""	"COL1A1(NM_000088.3):c.3979G>A (p.G1327S, p.(Gly1327Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186343C>T"	""	"VUS"	""
"0000562147"	"0"	"10"	"17"	"48263786"	"48263786"	"subst"	"0.00134814"	"01943"	"COL1A1_001447"	"g.48263786G>A"	""	""	""	"COL1A1(NM_000088.3):c.3897C>T (p.C1299=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186425G>A"	""	"benign"	""
"0000562148"	"0"	"30"	"17"	"48263877"	"48263877"	"subst"	"0"	"02329"	"COL1A1_001449"	"g.48263877G>A"	""	""	""	"COL1A1(NM_000088.3):c.3815-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186516G>A"	""	"likely benign"	""
"0000562149"	"0"	"50"	"17"	"48264060"	"48264060"	"subst"	"4.48145E-5"	"01943"	"COL1A1_001070"	"g.48264060C>T"	""	""	""	"COL1A1(NM_000088.3):c.3755G>A (p.R1252H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186699C>T"	""	"VUS"	""
"0000562150"	"0"	"30"	"17"	"48264116"	"48264116"	"subst"	"0"	"01943"	"COL1A1_001452"	"g.48264116G>A"	""	""	""	"COL1A1(NM_000088.3):c.3699C>T (p.T1233=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186755G>A"	""	"likely benign"	""
"0000562151"	"0"	"50"	"17"	"48264280"	"48264280"	"subst"	"4.07897E-6"	"01943"	"COL1A1_001455"	"g.48264280G>A"	""	""	""	"COL1A1(NM_000088.3):c.3535C>T (p.P1179S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186919G>A"	""	"VUS"	""
"0000562152"	"0"	"90"	"17"	"48264280"	"48264280"	"del"	"0"	"02329"	"COL1A1_001454"	"g.48264280del"	""	""	""	"COL1A1(NM_000088.3):c.3540delC (p.G1181Afs*58)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186919del"	""	"pathogenic"	""
"0000562153"	"0"	"10"	"17"	"48264366"	"48264366"	"subst"	"0.0072255"	"01943"	"COL1A1_001457"	"g.48264366G>T"	""	""	""	"COL1A1(NM_000088.3):c.3531+10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50187005G>T"	""	"benign"	""
"0000562154"	"0"	"30"	"17"	"48264403"	"48264403"	"subst"	"4.91018E-5"	"01943"	"COL1A1_001458"	"g.48264403G>A"	""	""	""	"COL1A1(NM_000088.3):c.3504C>T (p.R1168=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50187042G>A"	""	"likely benign"	""
"0000562155"	"0"	"50"	"17"	"48265328"	"48265328"	"subst"	"5.72078E-5"	"01943"	"COL1A1_000942"	"g.48265328C>T"	""	""	""	"COL1A1(NM_000088.3):c.3278G>A (p.R1093H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50187967C>T"	""	"VUS"	""
"0000562157"	"0"	"50"	"17"	"48265929"	"48265929"	"subst"	"8.15335E-5"	"01943"	"COL1A1_001471"	"g.48265929C>T"	""	""	""	"COL1A1(NM_000088.3):c.3169G>A (p.V1057I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188568C>T"	""	"VUS"	""
"0000562158"	"0"	"90"	"17"	"48265957"	"48265965"	"del"	"0"	"02325"	"COL1A1_000340"	"g.48265957_48265965del"	""	""	""	"COL1A1(NM_000088.4):c.3150_3158delTCCTGGTGC (p.A1053_G1055del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000562159"	"0"	"30"	"17"	"48265975"	"48265975"	"subst"	"0.000610928"	"02326"	"COL1A1_001473"	"g.48265975G>A"	""	""	""	"COL1A1(NM_000088.3):c.3123C>T (p.P1041=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188614G>A"	""	"likely benign"	""
"0000562160"	"0"	"30"	"17"	"48265996"	"48265996"	"subst"	"0.000240058"	"01943"	"COL1A1_001475"	"g.48265996A>G"	""	""	""	"COL1A1(NM_000088.3):c.3102T>C (p.G1034=, p.(Gly1034=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188635A>G"	""	"likely benign"	""
"0000562161"	"0"	"30"	"17"	"48265996"	"48265996"	"subst"	"0.000240058"	"01804"	"COL1A1_001475"	"g.48265996A>G"	""	""	""	"COL1A1(NM_000088.3):c.3102T>C (p.G1034=, p.(Gly1034=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188635A>G"	""	"likely benign"	""
"0000562163"	"0"	"90"	"17"	"48266126"	"48266126"	"subst"	"0"	"02329"	"COL1A1_000244"	"g.48266126G>A"	""	""	""	"COL1A1(NM_000088.3):c.3076C>T (p.R1026*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000562164"	"0"	"30"	"17"	"48266141"	"48266141"	"subst"	"0.000182771"	"02329"	"COL1A1_001480"	"g.48266141C>G"	""	""	""	"COL1A1(NM_000088.3):c.3061G>C (p.E1021Q), COL1A1(NM_000088.4):c.3061G>C (p.(Glu1021Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188780C>G"	""	"likely benign"	""
"0000562165"	"0"	"10"	"17"	"48266174"	"48266177"	"dup"	"0"	"01943"	"COL1A1_001481"	"g.48266174_48266177dup"	""	""	""	"COL1A1(NM_000088.3):c.3046-8_3046-5dupCTCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188813_50188816dup"	""	"benign"	""
"0000562166"	"0"	"10"	"17"	"48266174"	"48266177"	"dup"	"0"	"02329"	"COL1A1_001481"	"g.48266174_48266177dup"	""	""	""	"COL1A1(NM_000088.3):c.3046-8_3046-5dupCTCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188813_50188816dup"	""	"benign"	""
"0000562167"	"0"	"10"	"17"	"48266176"	"48266177"	"del"	"0"	"02330"	"COL1A1_001482"	"g.48266176_48266177del"	""	""	""	"COL1A1(NM_000088.3):c.3046-6_3046-5delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188815_50188816del"	""	"benign"	""
"0000562168"	"0"	"50"	"17"	"48266286"	"48266286"	"subst"	"0"	"01943"	"COL1A1_001484"	"g.48266286G>C"	""	""	""	"COL1A1(NM_000088.3):c.3023C>G (p.P1008R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188925G>C"	""	"VUS"	""
"0000562169"	"0"	"30"	"17"	"48267238"	"48267238"	"subst"	"0.000547249"	"01943"	"COL1A1_001490"	"g.48267238G>A"	""	""	""	"COL1A1(NM_000088.3):c.2595C>T (p.R865=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50189877G>A"	""	"likely benign"	""
"0000562170"	"0"	"30"	"17"	"48267578"	"48267578"	"subst"	"0"	"02329"	"COL1A1_001495"	"g.48267578C>T"	""	""	""	"COL1A1(NM_000088.3):c.2452-109G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50190217C>T"	""	"likely benign"	""
"0000562171"	"0"	"90"	"17"	"48267630"	"48267630"	"subst"	"0"	"02329"	"COL1A1_001496"	"g.48267630C>A"	""	""	""	"COL1A1(NM_000088.3):c.2451+58G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50190269C>A"	""	"pathogenic"	""
"0000562172"	"0"	"30"	"17"	"48268781"	"48268781"	"subst"	"0"	"02327"	"COL1A1_001503"	"g.48268781C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191420C>T"	""	"likely benign"	""
"0000562173"	"0"	"50"	"17"	"48268829"	"48268829"	"subst"	"0"	"01943"	"COL1A1_001504"	"g.48268829G>A"	""	""	""	"COL1A1(NM_000088.3):c.2150C>T (p.A717V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191468G>A"	""	"VUS"	""
"0000562174"	"0"	"50"	"17"	"48269160"	"48269160"	"subst"	"0"	"01943"	"COL1A1_001505"	"g.48269160C>T"	""	""	""	"COL1A1(NM_000088.3):c.2116G>A (p.D706N, p.(Asp706Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191799C>T"	""	"VUS"	""
"0000562175"	"0"	"50"	"17"	"48269160"	"48269160"	"subst"	"0"	"01804"	"COL1A1_001505"	"g.48269160C>T"	""	""	""	"COL1A1(NM_000088.3):c.2116G>A (p.D706N, p.(Asp706Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191799C>T"	""	"VUS"	""
"0000562176"	"0"	"50"	"17"	"48269160"	"48269160"	"subst"	"0"	"02327"	"COL1A1_001505"	"g.48269160C>T"	""	""	""	"COL1A1(NM_000088.3):c.2116G>A (p.D706N, p.(Asp706Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191799C>T"	""	"VUS"	""
"0000562177"	"0"	"90"	"17"	"48269174"	"48269174"	"subst"	"0"	"02325"	"COL1A1_001507"	"g.48269174C>A"	""	""	""	"COL1A1(NM_000088.4):c.2102G>T (p.G701V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191813C>A"	""	"pathogenic"	""
"0000562178"	"0"	"10"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"02326"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	"COL1A1(NM_000088.3):c.1984-5C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192029G>T"	""	"benign"	""
"0000562179"	"0"	"50"	"17"	"48269391"	"48269391"	"subst"	"4.5921E-5"	"01943"	"COL1A1_001510"	"g.48269391G>C"	""	""	""	"COL1A1(NM_000088.3):c.1984-6C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192030G>C"	""	"VUS"	""
"0000562180"	"0"	"50"	"17"	"48270048"	"48270048"	"subst"	"0.000227396"	"01943"	"COL1A1_001512"	"g.48270048C>T"	""	""	""	"COL1A1(NM_000088.3):c.1882G>A (p.A628T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192687C>T"	""	"VUS"	""
"0000562181"	"0"	"50"	"17"	"48270155"	"48270155"	"subst"	"4.4686E-5"	"01943"	"COL1A1_001021"	"g.48270155C>A"	""	""	""	"COL1A1(NM_000088.3):c.1875+3G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192794C>A"	""	"VUS"	""
"0000562182"	"0"	"50"	"17"	"48270160"	"48270160"	"subst"	"0.000503762"	"01943"	"COL1A1_001513"	"g.48270160C>T"	""	""	""	"COL1A1(NM_000088.3):c.1873G>A (p.A625T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192799C>T"	""	"VUS"	""
"0000562183"	"0"	"90"	"17"	"48271393"	"48271393"	"subst"	"0"	"02329"	"COL1A1_000110"	"g.48271393C>T"	""	""	""	"COL1A1(NM_000088.3):c.1678G>A (p.G560S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000562184"	"0"	"90"	"17"	"48271498"	"48271498"	"subst"	"0"	"02329"	"COL1A1_001515"	"g.48271498C>A"	""	""	""	"COL1A1(NM_000088.3):c.1661G>T (p.G554V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50194137C>A"	""	"pathogenic"	""
"0000562185"	"0"	"10"	"17"	"48272069"	"48272069"	"subst"	"0.000509556"	"02329"	"COL1A1_001517"	"g.48272069C>A"	""	""	""	"COL1A1(NM_000088.3):c.1461+13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50194708C>A"	""	"benign"	""
"0000562186"	"0"	"50"	"17"	"48272120"	"48272120"	"subst"	"0"	"01943"	"COL1A1_001518"	"g.48272120G>T"	""	""	""	"COL1A1(NM_000088.3):c.1423C>A (p.P475T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50194759G>T"	""	"VUS"	""
"0000562187"	"0"	"31"	"17"	"48272469"	"48272469"	"subst"	"0.0159974"	"01804"	"COL1A1_001521"	"g.48272469G>C"	""	""	""	"COL1A1(NM_000088.3):c.1300-8C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50195108G>C"	""	"likely benign"	""
"0000562188"	"0"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"02329"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	"COL1A1(NM_000088.3):c.1299+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000562189"	"0"	"30"	"17"	"48272643"	"48272643"	"subst"	"0.000696685"	"02329"	"COL1A1_000084"	"g.48272643G>C"	""	""	""	"COL1A1(NM_000088.3):c.1249C>G (p.(Pro417Ala), p.P417A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195282G>C"	""	"likely benign"	""
"0000562190"	"0"	"30"	"17"	"48272659"	"48272659"	"subst"	"2.84678E-5"	"02329"	"COL1A1_001524"	"g.48272659G>A"	""	""	""	"COL1A1(NM_000088.3):c.1233C>T (p.F411=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195298G>A"	""	"likely benign"	""
"0000562191"	"0"	"70"	"17"	"48272681"	"48272681"	"subst"	"0"	"02327"	"COL1A1_001525"	"g.48272681C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195320C>T"	""	"likely pathogenic"	""
"0000562192"	"0"	"50"	"17"	"48272790"	"48272790"	"subst"	"2.84255E-5"	"01943"	"COL1A1_001526"	"g.48272790C>T"	""	""	""	"COL1A1(NM_000088.3):c.1200+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195429C>T"	""	"VUS"	""
"0000562193"	"0"	"30"	"17"	"48272857"	"48272857"	"subst"	"5.68482E-5"	"02329"	"COL1A1_001528"	"g.48272857G>A"	""	""	""	"COL1A1(NM_000088.3):c.1156-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195496G>A"	""	"likely benign"	""
"0000562194"	"0"	"90"	"17"	"48273002"	"48273002"	"subst"	"0"	"02329"	"COL1A1_000056"	"g.48273002G>A"	""	""	""	"COL1A1(NM_000088.3):c.1081C>T (p.R361*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000562195"	"0"	"30"	"17"	"48273519"	"48273519"	"subst"	"0.000540558"	"01943"	"COL1A1_001533"	"g.48273519G>A"	""	""	""	"COL1A1(NM_000088.3):c.999C>T (p.P333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50196158G>A"	""	"likely benign"	""
"0000562196"	"0"	"30"	"17"	"48273519"	"48273519"	"subst"	"0"	"01943"	"COL1A1_001534"	"g.48273519G>T"	""	""	""	"COL1A1(NM_000088.3):c.999C>A (p.P333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50196158G>T"	""	"likely benign"	""
"0000562197"	"0"	"90"	"17"	"48273890"	"48273890"	"subst"	"0"	"02329"	"COL1A1_000382"	"g.48273890C>T"	""	""	""	"COL1A1(NM_000088.3):c.859-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50196529C>T"	""	"pathogenic"	""
"0000562198"	"0"	"90"	"17"	"48274418"	"48274418"	"subst"	"0"	"02329"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	"COL1A1(NM_000088.3):c.757C>T (p.R253*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000562199"	"0"	"90"	"17"	"48275309"	"48275309"	"subst"	"0"	"02329"	"COL1A1_000216"	"g.48275309C>T"	""	""	""	"COL1A1(NM_000088.3):c.642+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197948C>T"	""	"pathogenic"	""
"0000562200"	"0"	"90"	"17"	"48275335"	"48275335"	"subst"	"0"	"02329"	"COL1A1_000708"	"g.48275335C>T"	""	""	""	"COL1A1(NM_000088.3):c.617G>A (p.G206D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197974C>T"	""	"pathogenic"	""
"0000562201"	"0"	"30"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"01943"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	"COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197978G>C"	""	"likely benign"	""
"0000562202"	"0"	"30"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"02329"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	"COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197978G>C"	""	"likely benign"	""
"0000562203"	"0"	"10"	"17"	"48275340"	"48275340"	"subst"	"0.00113013"	"02330"	"COL1A1_000501"	"g.48275340G>A"	""	""	""	"COL1A1(NM_000088.3):c.612C>T (p.P204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197979G>A"	""	"benign"	""
"0000562204"	"0"	"30"	"17"	"48275340"	"48275340"	"subst"	"0.00113013"	"02326"	"COL1A1_000501"	"g.48275340G>A"	""	""	""	"COL1A1(NM_000088.3):c.612C>T (p.P204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197979G>A"	""	"likely benign"	""
"0000562205"	"0"	"90"	"17"	"48275344"	"48275344"	"subst"	"0"	"02329"	"COL1A1_000009"	"g.48275344C>A"	""	""	""	"COL1A1(NM_000088.3):c.608G>T (p.G203V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000562206"	"0"	"90"	"17"	"48275825"	"48275825"	"subst"	"0"	"02329"	"COL1A1_001557"	"g.48275825G>T"	""	""	""	"COL1A1(NM_000088.3):c.512C>A (p.S171*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50198464G>T"	""	"pathogenic"	""
"0000562207"	"0"	"50"	"17"	"48275840"	"48275840"	"subst"	"8.17261E-6"	"01943"	"COL1A1_001558"	"g.48275840C>A"	""	""	""	"COL1A1(NM_000088.3):c.497G>T (p.G166V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50198479C>A"	""	"VUS"	""
"0000562208"	"0"	"90"	"17"	"48275842"	"48275842"	"subst"	"0"	"02329"	"COL1A1_001308"	"g.48275842A>T"	""	""	""	"COL1A1(NM_000088.3):c.495T>A (p.Y165*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50198481A>T"	""	"pathogenic"	""
"0000562209"	"0"	"79"	"17"	"48275867"	"48275867"	"subst"	"0"	"02327"	"COL1A1_000367"	"g.48275867T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.50198506T>C"	""	"likely pathogenic"	""
"0000562210"	"0"	"90"	"17"	"48276706"	"48276706"	"subst"	"0"	"02329"	"COL1A1_001322"	"g.48276706G>T"	""	""	""	"COL1A1(NM_000088.3):c.370-18C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199345G>T"	""	"pathogenic"	""
"0000562211"	"0"	"30"	"17"	"48276966"	"48276966"	"subst"	"0.000178706"	"02329"	"COL1A1_001323"	"g.48276966G>A"	""	""	""	"COL1A1(NM_000088.3):c.299-15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199605G>A"	""	"likely benign"	""
"0000562212"	"0"	"90"	"17"	"48277310"	"48277310"	"subst"	"0"	"02329"	"COL1A1_001324"	"g.48277310T>C"	""	""	""	"COL1A1(NM_000088.3):c.104-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199949T>C"	""	"pathogenic"	""
"0000562213"	"0"	"90"	"17"	"48278767"	"48278767"	"subst"	"0"	"02329"	"COL1A1_001325"	"g.48278767C>T"	""	""	""	"COL1A1(NM_000088.3):c.103+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50201406C>T"	""	"pathogenic"	""
"0000562214"	"0"	"50"	"17"	"48278798"	"48278798"	"subst"	"0.000236043"	"01943"	"COL1A1_000579"	"g.48278798C>T"	""	""	""	"COL1A1(NM_000088.3):c.77G>A (p.G26D, p.(Gly26Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50201437C>T"	""	"VUS"	""
"0000562215"	"0"	"30"	"17"	"48278798"	"48278798"	"subst"	"0.000236043"	"02329"	"COL1A1_000579"	"g.48278798C>T"	""	""	""	"COL1A1(NM_000088.3):c.77G>A (p.G26D, p.(Gly26Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50201437C>T"	""	"likely benign"	""
"0000592080"	"11"	"90"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000592096"	"11"	"90"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000592584"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000592585"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000592586"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000592587"	"21"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000592588"	"21"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000592589"	"11"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"01864"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000597680"	"0"	"70"	"17"	"48276924"	"48276924"	"subst"	"8.12222E-6"	"02544"	"COL1A1_001330"	"g.48276924C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199563C>T"	""	"likely pathogenic"	""
"0000597681"	"0"	"70"	"17"	"48275529"	"48275529"	"subst"	"0"	"02544"	"COL1A1_000667"	"g.48275529C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198168C>G"	""	"likely pathogenic"	""
"0000597684"	"0"	"70"	"17"	"48269203"	"48269203"	"del"	"4.41127E-6"	"02544"	"COL1A1_000309"	"g.48269203del"	""	""	""	"2073delT"	""	"Unknown"	""	""	"0"	""	""	"g.50191842del"	""	"likely pathogenic"	""
"0000597685"	"10"	"70"	"17"	"48269203"	"48269203"	"del"	"4.41127E-6"	"02544"	"COL1A1_000309"	"g.48269203del"	""	""	""	"2073delT"	""	"Germline"	""	""	"0"	""	""	"g.50191842del"	""	"likely pathogenic"	""
"0000597686"	"0"	"70"	"17"	"48272649"	"48272649"	"subst"	"0"	"02544"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.50195288G>A"	""	"likely pathogenic"	""
"0000597687"	"0"	"70"	"17"	"48275119"	"48275119"	"subst"	"0"	"02544"	"COL1A1_001547"	"g.48275119C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197758C>T"	""	"likely pathogenic"	""
"0000616667"	"0"	"10"	"17"	"48262636"	"48262637"	"dup"	"0"	"02329"	"COL1A1_001331"	"g.48262636_48262637dup"	""	""	""	"COL1A1(NM_000088.3):c.*243_*244dupAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185275_50185276dup"	""	"benign"	""
"0000616668"	"0"	"50"	"17"	"48263679"	"48263679"	"subst"	"0"	"02327"	"COL1A1_001332"	"g.48263679T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186318T>A"	""	"VUS"	""
"0000616670"	"0"	"30"	"17"	"48266096"	"48266096"	"subst"	"0.000564458"	"02329"	"COL1A1_001337"	"g.48266096A>G"	""	""	""	"COL1A1(NM_000088.3):c.3099+7T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188735A>G"	""	"likely benign"	""
"0000616671"	"0"	"70"	"17"	"48267442"	"48267442"	"subst"	"0"	"01943"	"COL1A1_001338"	"g.48267442C>T"	""	""	""	"COL1A1(NM_000088.3):c.2479G>A (p.G827S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50190081C>T"	""	"likely pathogenic"	""
"0000616672"	"0"	"70"	"17"	"48268806"	"48268806"	"subst"	"0"	"02327"	"COL1A1_001340"	"g.48268806C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191445C>T"	""	"likely pathogenic"	""
"0000616673"	"0"	"50"	"17"	"48269364"	"48269364"	"subst"	"6.18735E-5"	"02327"	"COL1A1_001051"	"g.48269364C>T"	""	""	""	"COL1A1(NM_000088.4):c.2005G>A (p.A669T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192003C>T"	""	"VUS"	""
"0000616674"	"0"	"10"	"17"	"48270859"	"48270860"	"dup"	"0"	"02329"	"COL1A1_001342"	"g.48270859_48270860dup"	""	""	""	"COL1A1(NM_000088.3):c.1768-439_1768-438dupAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50193498_50193499dup"	""	"benign"	""
"0000616675"	"0"	"70"	"17"	"48271320"	"48271320"	"subst"	"0"	"01943"	"COL1A1_001343"	"g.48271320C>T"	""	""	""	"COL1A1(NM_000088.3):c.1751G>A (p.G584E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50193959C>T"	""	"likely pathogenic"	""
"0000616676"	"0"	"70"	"17"	"48272654"	"48272654"	"subst"	"0"	"02327"	"COL1A1_001344"	"g.48272654C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195293C>T"	""	"likely pathogenic"	""
"0000616677"	"0"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"02327"	"COL1A1_000828"	"g.48273524C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50196163C>G"	""	"pathogenic"	""
"0000616678"	"0"	"70"	"17"	"48277140"	"48277140"	"subst"	"0"	"01804"	"COL1A1_001348"	"g.48277140C>T"	""	""	""	"COL1A1(NM_000088.3):c.272G>A (p.(Cys91Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199779C>T"	""	"likely pathogenic"	""
"0000616679"	"0"	"90"	"17"	"48277144"	"48277144"	"subst"	"0"	"02329"	"COL1A1_001244"	"g.48277144C>A"	""	""	""	"COL1A1(NM_000088.3):c.268G>T (p.E90*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199783C>A"	""	"pathogenic"	""
"0000623704"	"0"	"30"	"17"	"48264049"	"48264049"	"subst"	"0.000211902"	"01943"	"COL1A1_000702"	"g.48264049C>T"	""	""	""	"COL1A1(NM_000088.3):c.3766G>A (p.A1256T, p.(Ala1256Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186688C>T"	""	"likely benign"	""
"0000623705"	"0"	"90"	"17"	"48265477"	"48265477"	"del"	"0"	"02329"	"COL1A1_000523"	"g.48265477del"	""	""	""	"COL1A1(NM_000088.3):c.3241delG (p.V1081Lfs*27)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188116del"	""	"pathogenic"	""
"0000623706"	"0"	"90"	"17"	"48265980"	"48265980"	"subst"	"0"	"02329"	"COL1A1_000186"	"g.48265980C>T"	""	""	""	"COL1A1(NM_000088.3):c.3118G>A (p.G1040S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000623707"	"0"	"30"	"17"	"48268302"	"48268302"	"subst"	"0.00105021"	"02329"	"COL1A1_001339"	"g.48268302G>C"	""	""	""	"COL1A1(NM_000088.3):c.2236-17C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50190941G>C"	""	"likely benign"	""
"0000623708"	"0"	"90"	"17"	"48275342"	"48275342"	"dup"	"0"	"02329"	"COL1A1_001092"	"g.48275342dup"	""	""	""	"COL1A1(NM_000088.3):c.614dupC (p.G206Wfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197981dup"	""	"pathogenic"	""
"0000623709"	"0"	"50"	"17"	"48276657"	"48276657"	"subst"	"1.48876E-5"	"01943"	"COL1A1_001347"	"g.48276657A>T"	""	""	""	"COL1A1(NM_000088.3):c.401T>A (p.I134N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199296A>T"	""	"VUS"	""
"0000623710"	"0"	"50"	"17"	"48276673"	"48276673"	"subst"	"6.85176E-6"	"01943"	"COL1A1_001560"	"g.48276673G>A"	""	""	""	"COL1A1(NM_000088.3):c.385C>T (p.P129S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199312G>A"	""	"VUS"	""
"0000624944"	"0"	"70"	"17"	"48266882"	"48266882"	"del"	"0"	"01164"	"COL1A1_001350"	"g.48266882del"	""	""	""	""	"ACMG: PVS1,PM2; Lagrou et al. 2018. J AAPOS 3: 183; Bardai et al. 2016. Osteoporos Int 12: 3607"	"Germline"	""	"rs193922151"	"0"	""	""	"g.50189521del"	""	"likely pathogenic"	"ACMG"
"0000649637"	"1"	"70"	"17"	"48267721"	"48267721"	"del"	"0"	"03575"	"COL1A1_001351"	"g.48267721del"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs193922148}"	"Germline"	""	"rs193922148"	"0"	""	""	"g.50190360del"	""	"likely pathogenic"	""
"0000649639"	"1"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"03575"	"COL1A1_000046"	"g.48273524C>T"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs72645357}"	"Germline"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000649640"	"1"	"70"	"17"	"48274031"	"48274031"	"subst"	"0"	"03575"	"COL1A1_000026"	"g.48274031C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs72645328}"	"Germline"	""	"rs72645328"	"0"	""	""	"g.50196670C>T"	""	"likely pathogenic"	""
"0000649641"	"1"	"70"	"17"	"48276690"	"48276690"	"subst"	"0"	"03575"	"COL1A1_001354"	"g.48276690T>C"	"2/2782 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs193922155}"	"Germline"	""	"rs193922155"	"0"	""	""	"g.50199329T>C"	""	"likely pathogenic"	""
"0000658175"	"0"	"30"	"17"	"48266008"	"48266008"	"subst"	"0"	"01943"	"COL1A1_001356"	"g.48266008A>G"	""	""	""	"COL1A1(NM_000088.3):c.3100-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188647A>G"	""	"likely benign"	""
"0000658176"	"0"	"30"	"17"	"48267207"	"48267207"	"subst"	"0.000608719"	"02329"	"COL1A1_001357"	"g.48267207G>A"	""	""	""	"COL1A1(NM_000088.3):c.2613+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50189846G>A"	""	"likely benign"	""
"0000658177"	"0"	"30"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"01943"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	"COL1A1(NM_000088.3):c.1984-5C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192029G>T"	""	"likely benign"	""
"0000658178"	"0"	"30"	"17"	"48270049"	"48270049"	"subst"	"1.62429E-5"	"01943"	"COL1A1_001358"	"g.48270049G>A"	""	""	""	"COL1A1(NM_000088.3):c.1881C>T (p.P627=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192688G>A"	""	"likely benign"	""
"0000658179"	"0"	"50"	"17"	"48273001"	"48273001"	"subst"	"4.0665E-6"	"01943"	"COL1A1_001359"	"g.48273001C>T"	""	""	""	"COL1A1(NM_000088.3):c.1082G>A (p.R361Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195640C>T"	""	"VUS"	""
"0000658180"	"0"	"90"	"17"	"48275344"	"48275344"	"subst"	"0"	"01943"	"COL1A1_000009"	"g.48275344C>A"	""	""	""	"COL1A1(NM_000088.3):c.608G>T (p.G203V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000659560"	"21"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03528"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50198170del"	""	"pathogenic"	""
"0000660098"	"0"	"70"	"17"	"48267388"	"48267388"	"subst"	"0"	"01164"	"COL1A1_001360"	"g.48267388C>A"	""	""	""	""	"ACMG grading: PVS1,PM2; father also affected"	"Germline"	""	""	"0"	""	""	"g.50190027C>A"	""	"likely pathogenic"	"ACMG"
"0000663763"	"10"	"99"	"17"	"48274595"	"48274595"	"del"	"0"	"03235"	"COL1A1_000893"	"g.48274595del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"700delG"	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50197234del"	""	"pathogenic (dominant)"	"ACMG"
"0000663764"	"0"	"99"	"17"	"48274539"	"48274539"	"subst"	"0"	"03235"	"COL1A1_001036"	"g.48274539A>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	"g.50197178A>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663765"	"11"	"99"	"17"	"48273850"	"48273850"	"subst"	"0"	"03235"	"COL1A1_001255"	"g.48273850G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50196489G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663766"	"0"	"99"	"17"	"48273326"	"48273326"	"del"	"0"	"03235"	"COL1A1_001364"	"g.48273326del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"1017delC"	"ACMG PVS1 PS3"	"Somatic"	"-"	""	"0"	""	""	"g.50195965del"	""	"pathogenic (dominant)"	"ACMG"
"0000663767"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"03235"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"1128delT"	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"-"	""	"0"	""	""	"g.50195594del"	""	"pathogenic (dominant)"	"ACMG"
"0000663768"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03235"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50195288G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663769"	"0"	"99"	"17"	"48272626"	"48272626"	"del"	"0"	"03235"	"COL1A1_000861"	"g.48272626del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"1269delC"	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"-"	""	"0"	""	""	"g.50195265del"	""	"pathogenic (dominant)"	"ACMG"
"0000663770"	"21"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03235"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663771"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03235"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"-"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663772"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03235"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"-"	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663773"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03235"	"COL1A1_001373"	"g.48272592C>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50195231C>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663774"	"0"	"99"	"17"	"48271403"	"48271403"	"subst"	"0"	"03235"	"COL1A1_001370"	"g.48271403C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"-"	""	"0"	""	""	"g.50194042C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663775"	"0"	"99"	"17"	"48271372"	"48271372"	"del"	"0"	"03235"	"COL1A1_001361"	"g.48271372del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"1703delC"	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"-"	""	"0"	""	""	"g.50194011del"	""	"pathogenic (dominant)"	"ACMG"
"0000663776"	"21"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03235"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50193023G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663777"	"11"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03235"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50193023G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663778"	"11"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03235"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50193023G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663779"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03235"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"-"	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663780"	"21"	"99"	"17"	"48270212"	"48270212"	"subst"	"0"	"03235"	"COL1A1_000849"	"g.48270212C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50192851C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663781"	"20"	"99"	"17"	"48270055"	"48270055"	"subst"	"0"	"03235"	"COL1A1_001191"	"g.48270055C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.50192694C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663782"	"21"	"99"	"17"	"48269865"	"48269865"	"del"	"0"	"03235"	"COL1A1_001366"	"g.48269865del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"1955delC"	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50192504del"	""	"pathogenic (dominant)"	"ACMG"
"0000663783"	"11"	"99"	"17"	"48269359"	"48269359"	"del"	"0"	"03235"	"COL1A1_000318"	"g.48269359del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"2010delT"	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50191998del"	""	"pathogenic (dominant)"	"ACMG"
"0000663784"	"20"	"90"	"17"	"48269187"	"48269187"	"subst"	"0"	"03235"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50191826G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663785"	"21"	"99"	"17"	"48268807"	"48268807"	"del"	"0"	"03235"	"COL1A1_001375"	"g.48268807del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	"2172delT"	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50191446del"	""	"pathogenic (dominant)"	"ACMG"
"0000663786"	"11"	"90"	"17"	"48267457"	"48267457"	"subst"	"0"	"03235"	"COL1A1_000232"	"g.48267457G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50190096G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663788"	"0"	"90"	"17"	"48267444"	"48267445"	"del"	"0"	"03235"	"COL1A1_001381"	"g.48267444_48267445del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Unknown"	"-"	""	"0"	""	""	"g.50190083_50190084del"	""	"pathogenic (dominant)"	"ACMG"
"0000663789"	"11"	"90"	"17"	"48267094"	"48267094"	"subst"	"0"	"03235"	"COL1A1_001376"	"g.48267094C>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50189733C>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663790"	"0"	"90"	"17"	"48267063"	"48267063"	"subst"	"0"	"03235"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Unknown"	"-"	""	"0"	""	""	"g.50189702G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663791"	"0"	"90"	"17"	"48266900"	"48266900"	"subst"	"0"	"03235"	"COL1A1_001379"	"g.48266900C>G"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Unknown"	"-"	""	"0"	""	""	"g.50189539C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000663792"	"0"	"90"	"17"	"48266555"	"48266556"	"ins"	"0"	"03235"	"COL1A1_001380"	"g.48266555_48266556insCT"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Unknown"	"-"	""	"0"	""	""	"g.50189194_50189195insCT"	""	"pathogenic (dominant)"	"ACMG"
"0000663793"	"21"	"90"	"17"	"48266262"	"48266262"	"subst"	"0"	"03235"	"COL1A1_001374"	"g.48266262A>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50188901A>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663794"	"21"	"90"	"17"	"48266262"	"48266262"	"subst"	"0"	"03235"	"COL1A1_001374"	"g.48266262A>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50188901A>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663795"	"11"	"99"	"17"	"48266262"	"48266262"	"subst"	"0"	"03235"	"COL1A1_001374"	"g.48266262A>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50188901A>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663796"	"0"	"90"	"17"	"48266137"	"48266137"	"subst"	"0"	"03235"	"COL1A1_000182"	"g.48266137C>G"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50188776C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000663797"	"0"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"03235"	"COL1A1_000752"	"g.48265890C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	"yes"	""	"0"	""	""	"g.50188529C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663941"	"0"	"99"	"17"	"48265890"	"48265891"	"del"	"0"	"03235"	"COL1A1_000471"	"g.48265890_48265891del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50188529_50188530del"	""	"pathogenic (dominant)"	"ACMG"
"0000663942"	"0"	"99"	"17"	"48265345"	"48265345"	"subst"	"0"	"03235"	"COL1A1_001390"	"g.48265345C>G"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50187984C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000663943"	"0"	"99"	"17"	"48265284"	"48265291"	"del"	"0"	"03235"	"COL1A1_001389"	"g.48265284_48265291del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50187923_50187930del"	""	"pathogenic (dominant)"	"ACMG"
"0000663944"	"0"	"99"	"17"	"48265246"	"48265246"	"del"	"0"	"03235"	"COL1A1_000765"	"g.48265246del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50187885del"	""	"pathogenic (dominant)"	"ACMG"
"0000663945"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"03235"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50187486G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663946"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"03235"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50187486G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663947"	"0"	"99"	"17"	"48264097"	"48264097"	"subst"	"0"	"03235"	"COL1A1_000973"	"g.48264097G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50186736G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663948"	"0"	"99"	"17"	"48263783"	"48263783"	"del"	"0"	"03235"	"COL1A1_001385"	"g.48263783del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50186422del"	""	"pathogenic (dominant)"	"ACMG"
"0000663951"	"0"	"99"	"17"	"48274595"	"48274595"	"subst"	"0"	"03235"	"COL1A1_001544"	"g.48274595C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50197234C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663952"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03235"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50197045C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663953"	"0"	"99"	"17"	"48273852"	"48273852"	"subst"	"0"	"03235"	"COL1A1_000036"	"g.48273852C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50196491C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663954"	"0"	"99"	"17"	"48272990"	"48272990"	"subst"	"0"	"03235"	"COL1A1_001093"	"g.48272990C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50195629C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663955"	"0"	"79"	"17"	"48272669"	"48272671"	"del"	"0"	"03235"	"COL1A1_001399"	"g.48272669_48272671del"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PM2 PM4 PM6 PP3"	"Germline"	""	""	"0"	""	""	"g.50195308_50195310del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000663956"	"0"	"79"	"17"	"48272189"	"48272189"	"subst"	"0"	"03235"	"COL1A1_001398"	"g.48272189C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS3 PM2 PM6 PP3 PP4"	"Germline"	""	""	"0"	""	""	"g.50194828C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000663957"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03235"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3 PM6"	"Germline"	""	"rs67682641"	"0"	""	""	"g.50194375C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663958"	"0"	"99"	"17"	"48271490"	"48271490"	"subst"	"0"	"03235"	"COL1A1_001514"	"g.48271490C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3 PM6"	"Germline"	""	""	"0"	""	""	"g.50194129C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663959"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03235"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50194032C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663960"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03235"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3 PM6"	"Germline"	""	""	"0"	""	""	"g.50190861C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663961"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03235"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50190099C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663962"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03235"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50190099C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663963"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03235"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663964"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03235"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50188619C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663965"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03235"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3 PM6"	"Germline"	""	""	"0"	""	""	"g.50188619C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663966"	"0"	"99"	"17"	"48265944"	"48265944"	"subst"	"0"	"03235"	"COL1A1_001393"	"g.48265944C>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS3 PM2 PP3 PP4"	"Germline"	""	""	"0"	""	""	"g.50188583C>A"	""	"pathogenic (dominant)"	"ACMG"
"0000663967"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"03235"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50188131C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663968"	"0"	"77"	"17"	"48263264"	"48263264"	"subst"	"0"	"03235"	"COL1A1_001384"	"g.48263264C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PM2 PM6 PP3 PP4"	"Germline"	""	""	"0"	""	""	"g.50185903C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000663969"	"0"	"99"	"17"	"48263138"	"48263138"	"subst"	"0"	"03235"	"COL1A1_001169"	"g.48263138C>T"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PVS1 PS3"	"Germline"	""	""	"0"	""	""	"g.50185777C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000663970"	"0"	"75"	"17"	"48262930"	"48262930"	"subst"	"0"	"03235"	"COL1A1_001383"	"g.48262930G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PM2 PM6 PP3 PP4"	"Germline"	""	"rs1131692326"	"0"	""	""	"g.50185569G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000663971"	"0"	"75"	"17"	"48262930"	"48262930"	"subst"	"0"	"03235"	"COL1A1_001383"	"g.48262930G>A"	""	"{PMID:Higuchi 2021:33939306}, {DOI:Higuchi 2021:10.1002/mgg3.1675}"	""	""	"ACMG PM2 PM6 PP3 PP4"	"Germline"	""	"rs1131692326"	"0"	""	""	"g.50185569G>A"	"RCV000496049.2"	"likely pathogenic (dominant)"	"ACMG"
"0000664418"	"1"	"90"	"17"	"48278808"	"48278808"	"subst"	"0"	"00006"	"COL1A1_001424"	"g.48278808G>A"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50201447G>A"	""	"pathogenic (dominant)"	""
"0000664419"	"1"	"99"	"17"	"48277269"	"48277269"	"dup"	"0"	"00006"	"COL1A1_001423"	"g.48277269dup"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"143dupA"	""	"Germline"	""	""	"0"	""	""	"g.50199908dup"	""	"pathogenic (dominant)"	""
"0000664420"	"1"	"99"	"17"	"48277264"	"48277264"	"subst"	"0"	"00006"	"COL1A1_001095"	"g.48277264G>A"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199903G>A"	""	"pathogenic (dominant)"	""
"0000664421"	"1"	"90"	"17"	"48276953"	"48276953"	"subst"	"0"	"00006"	"COL1A1_001565"	"g.48276953T>C"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199592T>C"	""	"pathogenic (dominant)"	""
"0000664422"	"1"	"90"	"17"	"48275521"	"48275521"	"subst"	"0"	"00006"	"COL1A1_001421"	"g.48275521C>A"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198160C>A"	""	"pathogenic (dominant)"	""
"0000664423"	"1"	"90"	"17"	"48275127"	"48275159"	"del"	"0"	"00006"	"COL1A1_001403"	"g.48275127_48275159del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"643-13_662delCTATCTTTTCTAGGGTCCCATGGGTCCCCGAGG"	""	"Germline"	""	""	"0"	""	""	"g.50197766_50197798del"	""	"pathogenic (dominant)"	""
"0000664424"	"1"	"90"	"17"	"48275094"	"48275094"	"del"	"0"	"00006"	"COL1A1_001419"	"g.48275094del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"695delA"	""	"Germline"	""	""	"0"	""	""	"g.50197733del"	""	"pathogenic (dominant)"	""
"0000664425"	"1"	"99"	"17"	"48271499"	"48271499"	"del"	"0"	"00006"	"COL1A1_001417"	"g.48271499del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"1661delG"	""	"Germline"	""	""	"0"	""	""	"g.50194138del"	""	"pathogenic (dominant)"	""
"0000664426"	"1"	"90"	"17"	"48271497"	"48271497"	"del"	"0"	"00006"	"COL1A1_000916"	"g.48271497del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"1667delC"	""	"Germline"	""	""	"0"	""	""	"g.50194136del"	""	"pathogenic (dominant)"	""
"0000664427"	"1"	"90"	"17"	"48270213"	"48270213"	"del"	"0"	"00006"	"COL1A1_001414"	"g.48270213del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"1822-2delA"	""	"Germline"	""	""	"0"	""	""	"g.50192852del"	""	"pathogenic (dominant)"	""
"0000664428"	"1"	"90"	"17"	"48270213"	"48270213"	"subst"	"0"	"00006"	"COL1A1_001415"	"g.48270213T>A"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192852T>A"	""	"pathogenic (dominant)"	""
"0000664429"	"1"	"90"	"17"	"48270008"	"48270008"	"subst"	"0"	"00006"	"COL1A1_001413"	"g.48270008C>G"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192647C>G"	""	"pathogenic (dominant)"	""
"0000664430"	"1"	"90"	"17"	"48268273"	"48268273"	"del"	"0"	"00006"	"COL1A1_001411"	"g.48268273del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"2250delC"	""	"Germline"	""	""	"0"	""	""	"g.50190912del"	""	"pathogenic (dominant)"	""
"0000664431"	"1"	"90"	"17"	"48268241"	"48268241"	"subst"	"0"	"00006"	"COL1A1_001410"	"g.48268241A>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190880A>T"	""	"pathogenic (dominant)"	""
"0000664432"	"1"	"90"	"17"	"48267694"	"48267694"	"del"	"0"	"00006"	"COL1A1_000923"	"g.48267694del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"2450delC"	""	"Germline"	""	""	"0"	""	""	"g.50190333del"	""	"pathogenic (dominant)"	""
"0000664433"	"1"	"90"	"17"	"48265345"	"48265345"	"subst"	"0"	"00006"	"COL1A1_001460"	"g.48265345C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187984C>T"	""	"pathogenic (dominant)"	""
"0000664434"	"1"	"90"	"17"	"48264280"	"48264280"	"dup"	"0"	"00006"	"COL1A1_000745"	"g.48264280dup"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"3540_3541insC"	""	"Germline"	""	""	"0"	""	""	"g.50186919dup"	""	"pathogenic (dominant)"	""
"0000664464"	"1"	"99"	"17"	"48261457"	"48278995"	"del"	"0"	"00006"	"COL1A1_000000"	"g.(?_48261457)_(48278995_?)del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"del whole gene"	""	"Germline"	""	""	"0"	""	""	"g.(?_50184096)_(50201634_?)del"	""	"pathogenic"	""
"0000664465"	"1"	"90"	"17"	"48275118"	"48275118"	"subst"	"0"	"00006"	"COL1A1_000771"	"g.48275118C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197757C>T"	""	"pathogenic (dominant)"	""
"0000664466"	"1"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00006"	"COL1A1_000022"	"g.48274406C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197045C>T"	""	"pathogenic (dominant)"	""
"0000664467"	"1"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00006"	"COL1A1_000022"	"g.48274406C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197045C>T"	""	"pathogenic (dominant)"	""
"0000664468"	"1"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00006"	"COL1A1_000022"	"g.48274406C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197045C>T"	""	"pathogenic (dominant)"	""
"0000664469"	"1"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00006"	"COL1A1_000022"	"g.48274406C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197045C>T"	""	"pathogenic (dominant)"	""
"0000664470"	"1"	"90"	"17"	"48274013"	"48274013"	"subst"	"0"	"00006"	"COL1A1_000653"	"g.48274013C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196652C>T"	""	"pathogenic (dominant)"	""
"0000664471"	"1"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"00006"	"COL1A1_000046"	"g.48273524C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196163C>T"	""	"pathogenic (dominant)"	""
"0000664472"	"1"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"00006"	"COL1A1_000395"	"g.48272927C>G"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195566C>G"	""	"pathogenic (dominant)"	""
"0000664473"	"1"	"90"	"17"	"48270384"	"48270384"	"subst"	"0"	"00006"	"COL1A1_000133"	"g.48270384G>A"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50193023G>A"	""	"pathogenic (dominant)"	""
"0000664474"	"1"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00006"	"COL1A1_000415"	"g.48270354C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000664475"	"1"	"90"	"17"	"48269243"	"48269244"	"del"	"0"	"00006"	"COL1A1_000640"	"g.48269243_48269244del"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	"2037_2038delAG"	""	"Germline"	""	""	"0"	""	""	"g.50191882_50191883del"	""	"pathogenic (dominant)"	""
"0000664476"	"1"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"00006"	"COL1A1_000118"	"g.48268222C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190861C>T"	""	"pathogenic (dominant)"	""
"0000664477"	"1"	"90"	"17"	"48267939"	"48267939"	"subst"	"0"	"00006"	"COL1A1_000140"	"g.48267939C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190578C>T"	""	"pathogenic (dominant)"	""
"0000664478"	"1"	"90"	"17"	"48267460"	"48267460"	"subst"	"0"	"00006"	"COL1A1_000147"	"g.48267460C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190099C>T"	""	"pathogenic (dominant)"	""
"0000664479"	"1"	"90"	"17"	"48267273"	"48267273"	"subst"	"0"	"00006"	"COL1A1_000162"	"g.48267273C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189912C>T"	""	"pathogenic (dominant)"	""
"0000664480"	"1"	"90"	"17"	"48267264"	"48267264"	"subst"	"0"	"00006"	"COL1A1_000164"	"g.48267264C>A"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189903C>A"	""	"pathogenic (dominant)"	""
"0000664481"	"1"	"90"	"17"	"48264402"	"48264402"	"subst"	"0"	"00006"	"COL1A1_000214"	"g.48264402C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187041C>T"	""	"pathogenic (dominant)"	""
"0000664482"	"1"	"90"	"17"	"48264375"	"48264375"	"subst"	"0"	"00006"	"COL1A1_000449"	"g.48264375C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187014C>T"	""	"pathogenic (dominant)"	""
"0000664483"	"1"	"90"	"17"	"48264371"	"48264371"	"subst"	"0"	"00006"	"COL1A1_000448"	"g.48264371C>T"	"1/101 cases OI"	"{PMID:Liu 2017:28725987}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187010C>T"	""	"pathogenic (dominant)"	""
"0000680914"	"0"	"90"	"17"	"48264410"	"48264410"	"subst"	"0"	"02325"	"COL1A1_001425"	"g.48264410C>G"	""	""	""	"COL1A1(NM_000088.4):c.3497G>C (p.G1166A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50187049C>G"	""	"pathogenic"	""
"0000680915"	"0"	"70"	"17"	"48267357"	"48267357"	"subst"	"0"	"02329"	"COL1A1_000433"	"g.48267357C>T"	""	""	""	"COL1A1(NM_000088.3):c.2559+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50189996C>T"	""	"likely pathogenic"	""
"0000680916"	"0"	"50"	"17"	"48270043"	"48270043"	"subst"	"3.6547E-5"	"02330"	"COL1A1_001427"	"g.48270043G>A"	""	""	""	"COL1A1(NM_000088.3):c.1887C>T (p.G629=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50192682G>A"	""	"VUS"	""
"0000680917"	"0"	"90"	"17"	"48272961"	"48272961"	"dup"	"0"	"02329"	"COL1A1_000301"	"g.48272961dup"	""	""	""	"COL1A1(NM_000088.3):c.1127dupC (p.G377Wfs*15)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000680918"	"0"	"90"	"17"	"48273338"	"48273338"	"subst"	"0"	"02329"	"COL1A1_001429"	"g.48273338C>T"	""	""	""	"COL1A1(NM_000088.3):c.1003-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50195977C>T"	""	"pathogenic"	""
"0000692392"	"0"	"30"	"17"	"48262871"	"48262871"	"subst"	"0.000784872"	"02325"	"COL1A1_000784"	"g.48262871A>G"	""	""	""	"COL1A1(NM_000088.4):c.4387T>C (p.F1463L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185510A>G"	""	"likely benign"	""
"0000692393"	"0"	"30"	"17"	"48267644"	"48267644"	"subst"	"0"	"02329"	"COL1A1_001430"	"g.48267644G>A"	""	""	""	"COL1A1(NM_000088.3):c.2451+44C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50190283G>A"	""	"likely benign"	""
"0000692394"	"0"	"30"	"17"	"48267755"	"48267755"	"subst"	"1.21893E-5"	"02326"	"COL1A1_001431"	"g.48267755A>T"	""	""	""	"COL1A1(NM_000088.3):c.2398-14T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50190394A>T"	""	"likely benign"	""
"0000704576"	"0"	"99"	"17"	"47332514"	"49565743"	"?"	"0"	"00085"	"COL1A1_000905"	"g.(?_47332514)_(49565743_?)del"	""	"{PMID:Bardai et al., 2016:26478226}"	""	"GRCh37 chr17:g.47332514_49565743del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704577"	"0"	"99"	"17"	"0"	"0"	"?"	"0"	"03870"	"COL1A1_000992"	"g.?"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704578"	"0"	"99"	"17"	"48261457"	"48279000"	"?"	"0"	"03855"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704579"	"0"	"99"	"17"	"48261457"	"48279000"	"?"	"0"	"03854"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:van Dijk et al., 2010:21113976}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704580"	"0"	"99"	"17"	"48261457"	"48279000"	"?"	"0"	"03854"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:van Dijk et al., 2010:21113976}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704581"	"0"	"95"	"17"	"48261457"	"48279000"	"?"	"0"	"03854"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"VUS"	""
"0000704582"	"0"	"99"	"17"	"48261457"	"48279000"	"?"	"0"	"03854"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:van Dijk et al., 2010:21113976}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704583"	"0"	"99"	"17"	"48261457"	"48279000"	"?"	"0"	"03854"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:van Dijk et al., 2010:21113976}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704584"	"0"	"99"	"17"	"48261457"	"48279000"	"?"	"0"	"00085"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:Mannstadt et al., 2014:25075839}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704585"	"0"	"99"	"17"	"48261457"	"48279000"	"?"	"0"	"00085"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:Liu et al., 2017:28725987}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704586"	"11"	"99"	"17"	"48261457"	"48279000"	"del"	"0"	"00085"	"COL1A1_000366"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	"chr17q21.33_q23.1del"	""	"Unknown"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic"	""
"0000704587"	"0"	"95"	"17"	"48265890"	"48279000"	"dup"	"0"	"03894"	"COL1A1_001137"	"g.(48265511_48265890)_(48279000_?)dup"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	"dup ex1-43"	"duplication covered exons 1–43, its boundary was confirmed by real-time quantitative PCR"	"Unknown"	""	""	"0"	""	""	"g.(50188150_50188529)_(50201639_?)dup"	""	"VUS"	""
"0000704588"	"0"	"99"	"17"	"47554863"	"49471989"	"?"	"0"	"00085"	"COL1A1_000903"	"g.(?_47554863)_(49471989_?)del"	""	"{DECIPHER:255632}"	""	"GRCh37 chr17:g.47554863_49471989del"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704589"	"0"	"99"	"17"	"47699383"	"49331643"	"del"	"0"	"00085"	"COL1A1_000904"	"g.47699383_49331643del"	""	"{DECIPHER:267067}"	""	"GRCh37 chr17:g.47699383_49331643del"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704590"	"0"	"99"	"17"	"48099388"	"49348322"	"?"	"0"	"00085"	"COL1A1_000906"	"g.(?_48099388)_(49348322_?)del"	""	"{PMID:Bardai et al., 2016:26478226}"	""	"GRCh37 chr17:g.48099388_49348322del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704591"	"0"	"99"	"17"	"48211636"	"48289249"	"?"	"0"	"00085"	"COL1A1_000908"	"g.(?_48211636)_(48289249_?)del"	""	"{PMID:Bardai et al., 2016:26478226}"	""	"GRCh37 chr17:g.48211636_48289249del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704592"	"11"	"99"	"17"	"48237916"	"48666857"	"delins"	"0"	"03894"	"COL1A1_001605"	"g.48237916_48666857delinsGTGGCCA"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"gross 428941bp deletion revealed by MLPA, breakpoints validated by real-time quantitative PCR and long-range PCR"	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000704593"	"0"	"99"	"17"	"48242601"	"48379926"	"?"	"0"	"00085"	"COL1A1_000907"	"g.(?_48242601)_(48379926_?)del"	""	"{PMID:Bardai et al., 2016:26478226}"	""	"GRCh37 chr17:g.48242601_48379926del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704594"	"0"	"99"	"17"	"48261783"	"48280296"	"?"	"0"	"00085"	"COL1A1_000909"	"g.(?_48261783)_(48280296_?)del"	""	"{PMID:Bardai et al., 2016:26478226}"	""	"GRCh37 chr17:g.48261783_48280296del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704595"	"0"	"99"	"17"	"47554863"	"50957958"	"del"	"0"	"00085"	"COL1A1_000910"	"g.(?_47554863)_(50957958_?)del"	""	"{PMID:Harbuz et al., 2013:23949819}"	""	"NCBI36.1 chr17:g.44909862_48312957del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000704596"	"20"	"99"	"17"	"48278874"	"48278874"	"subst"	"0"	"03897"	"COL1A1_001316"	"g.48278874T>G"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50201513T>G"	""	"pathogenic"	""
"0000704597"	"11"	"99"	"17"	"48278874"	"48278874"	"subst"	"0"	"03856"	"COL1A1_000546"	"g.48278874T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201513T>C"	""	"pathogenic"	""
"0000704598"	"0"	"99"	"17"	"48278874"	"48278874"	"subst"	"0"	"03856"	"COL1A1_000546"	"g.48278874T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201513T>C"	""	"pathogenic"	""
"0000704599"	"0"	"99"	"17"	"48278873"	"48278873"	"subst"	"0"	"03853"	"COL1A1_000460"	"g.48278873A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201512A>G"	""	"pathogenic"	""
"0000704600"	"0"	"99"	"17"	"48278873"	"48278873"	"subst"	"0"	"03870"	"COL1A1_000460"	"g.48278873A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201512A>G"	""	"pathogenic"	""
"0000704601"	"21"	"99"	"17"	"48278873"	"48278873"	"subst"	"0"	"00085"	"COL1A1_000883"	"g.48278873A>C"	""	"{PMID:Cho et al., 2015:25696019}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201512A>C"	""	"pathogenic"	""
"0000704602"	"0"	"99"	"17"	"48278872"	"48278872"	"subst"	"0"	"00475"	"COL1A1_000631"	"g.48278872C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201511C>A"	""	"pathogenic"	""
"0000704603"	"0"	"59"	"17"	"48278837"	"48278838"	"ins"	"0"	"03885"	"COL1A1_000943"	"g.48278837_48278838insG"	""	"{PMID: Bardai et al., 2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201476_50201477insG"	""	"pathogenic"	""
"0000704604"	"0"	"99"	"17"	"48278837"	"48278837"	"subst"	"0"	"00085"	"COL1A1_000823"	"g.48278837A>C"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201476A>C"	""	"pathogenic"	""
"0000704605"	"0"	"97"	"17"	"48278813"	"48278813"	"subst"	"0"	"03894"	"COL1A1_001084"	"g.48278813T>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201452T>G"	""	"likely pathogenic"	""
"0000704606"	"0"	"99"	"17"	"48278811"	"48278811"	"subst"	"0"	"00085"	"COL1A1_000003"	"g.48278811C>G"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72667007"	"0"	""	""	"g.50201450C>G"	""	"pathogenic"	""
"0000704607"	"0"	"99"	"17"	"48278811"	"48278811"	"subst"	"0"	"03870"	"COL1A1_000003"	"g.48278811C>G"	""	""	""	""	""	"Unknown"	""	"rs72667007"	"0"	""	""	"g.50201450C>G"	""	"pathogenic"	""
"0000704608"	"0"	"99"	"17"	"48278806"	"48278811"	"del"	"0"	"03879"	"COL1A1_000868"	"g.48278806_48278811del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201445_50201450del"	""	"pathogenic"	""
"0000704609"	"0"	"57"	"17"	"48278798"	"48278798"	"subst"	"0.000236043"	"03855"	"COL1A1_000579"	"g.48278798C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201437C>T"	""	"likely pathogenic"	""
"0000704610"	"0"	"99"	"17"	"48278798"	"48278798"	"subst"	"0.000236043"	"00085"	"COL1A1_000579"	"g.48278798C>T"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201437C>T"	""	"pathogenic"	""
"0000704611"	"0"	"99"	"17"	"48278796"	"48278796"	"subst"	"0"	"03856"	"COL1A1_000549"	"g.48278796G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201435G>A"	""	"pathogenic"	""
"0000704612"	"0"	"99"	"17"	"48278795"	"48278795"	"del"	"0"	"00085"	"COL1A1_000922"	"g.48278795del"	""	"{PMID:Balasubramanian et al., 2016:26863094}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201434del"	""	"pathogenic"	""
"0000704613"	"20"	"99"	"17"	"48278784"	"48278784"	"subst"	"0"	"03891"	"COL1A1_001071"	"g.48278784G>A"	""	""	""	""	""	"Unknown"	""	"rs794726873"	"0"	""	""	"g.50201423G>A"	"{ClinVar000173062.1}"	"pathogenic"	""
"0000704614"	"0"	"99"	"17"	"48278771"	"48278771"	"subst"	"0"	"00085"	"COL1A1_000368"	"g.48278771C>T"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667008"	"0"	""	""	"g.50201410C>T"	""	"pathogenic"	""
"0000704615"	"0"	"99"	"17"	"48278771"	"48278771"	"subst"	"0"	"03870"	"COL1A1_000368"	"g.48278771C>T"	""	""	""	""	""	"Unknown"	""	"rs72667008"	"0"	""	""	"g.50201410C>T"	""	"pathogenic"	""
"0000704616"	"0"	"99"	"17"	"48278770"	"48278770"	"subst"	"0"	"00085"	"COL1A1_001054"	"g.48278770A>G"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201409A>G"	""	"pathogenic"	""
"0000704617"	"0"	"99"	"17"	"48278770"	"48278770"	"subst"	"0"	"00085"	"COL1A1_001054"	"g.48278770A>G"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50201409A>G"	""	"pathogenic"	""
"0000704618"	"0"	"99"	"17"	"48278770"	"48278770"	"subst"	"0"	"03894"	"COL1A1_001104"	"g.48278770A>C"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"The variant disrupts the canonical splice site and can therefore be classified as pathogenic"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704619"	"0"	"99"	"17"	"48277749"	"48277749"	"subst"	"0"	"00085"	"COL1A1_001234"	"g.48277749C>A"	""	"{PMID:Jaleč et al., 2019:30720562}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50200388C>A"	""	"pathogenic"	""
"0000704620"	"0"	"57"	"17"	"48277320"	"48277321"	"delins"	"0"	"00085"	"COL1A1_000937"	"g.48277320_48277321delinsTT"	""	"{PMID:Zarate et al., 2016:27090748}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199959_50199960delinsTT"	""	"likely pathogenic"	""
"0000704621"	"0"	"99"	"17"	"48277311"	"48277311"	"subst"	"0"	"00085"	"COL1A1_000142"	"g.48277311G>C"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667009"	"0"	""	""	"g.50199950G>C"	""	"pathogenic"	""
"0000704622"	"0"	"99"	"17"	"48277309"	"48277309"	"subst"	"0"	"00085"	"COL1A1_000886"	"g.48277309C>T"	""	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199948C>T"	""	"pathogenic"	""
"0000704623"	"0"	"99"	"17"	"48277309"	"48277309"	"subst"	"0"	"03894"	"COL1A1_000886"	"g.48277309C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"The variant disrupts the canonical slice acceptor site and can therefore be lassified as pathogenic"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704624"	"0"	"99"	"17"	"48277309"	"48277309"	"subst"	"0"	"00085"	"COL1A1_000850"	"g.48277309C>G"	""	"{PMID:Zhang et al., 2014:25449076}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199948C>G"	""	"pathogenic"	""
"0000704625"	"0"	"99"	"17"	"48267219"	"48278771"	"del"	"0"	"03854"	"COL1A1_000753"	"g.(48277309_48278771)_(48267094_48267219)del"	""	""	""	"c.104-?_2613+?del"	"multi exon deletion with frameshift"	"Unknown"	""	""	"0"	""	""	"g.(50199948_50201410)_(50189733_50189858)del"	""	"pathogenic"	"ACMG"
"0000704626"	"0"	"99"	"17"	"48277299"	"48277305"	"del"	"0"	"03879"	"COL1A1_000873"	"g.48277299_48277305del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199938_50199944del"	""	"pathogenic"	""
"0000704627"	"0"	"99"	"17"	"48277292"	"48277292"	"subst"	"0"	"03870"	"COL1A1_000993"	"g.48277292G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199931G>T"	""	"pathogenic"	""
"0000704628"	"0"	"99"	"17"	"48277292"	"48277292"	"subst"	"0"	"03870"	"COL1A1_000993"	"g.48277292G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199931G>T"	""	"pathogenic"	""
"0000704629"	"0"	"99"	"17"	"48277271"	"48277271"	"subst"	"0"	"00085"	"COL1A1_000932"	"g.48277271G>T"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199910G>T"	""	"pathogenic"	""
"0000704630"	"0"	"99"	"17"	"48277268"	"48277268"	"del"	"0"	"00085"	"COL1A1_001242"	"g.48277268del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	"The variant causes a frameshift and will lead to NMD. This type of mutations in COL1A! are know to have a dominant effect. The variant can therefore be classified as pathogenic."	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704631"	"0"	"99"	"17"	"48277264"	"48277264"	"subst"	"0"	"03894"	"COL1A1_001095"	"g.48277264G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"This variant creates a premature stop. This type of variants in COL1A1 is known to have a dominant effect. The variant can therefore be classified as pathogenic."	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704632"	"0"	"99"	"17"	"48277254"	"48277255"	"del"	"0"	"00085"	"COL1A1_001243"	"g.48277254_48277255del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	"This variant creates a frameshift. This type of variants in COL1A1 is known to have a dominant effect. The variant can therefore be classified as pathogenic (dominant)."	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704633"	"10"	"99"	"17"	"48277254"	"48277254"	"subst"	"0"	"03870"	"COL1A1_000994"	"g.48277254C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199893C>T"	""	"pathogenic"	""
"0000704634"	"10"	"99"	"17"	"48277254"	"48277254"	"subst"	"0"	"03870"	"COL1A1_000994"	"g.48277254C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199893C>T"	""	"pathogenic"	""
"0000704635"	"21"	"99"	"17"	"48277238"	"48277238"	"subst"	"0"	"02091"	"COL1A1_000920"	"g.48277238G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199877G>T"	""	"pathogenic"	""
"0000704636"	"0"	"99"	"17"	"48277238"	"48277238"	"subst"	"0"	"03894"	"COL1A1_000920"	"g.48277238G>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199877G>T"	""	"pathogenic"	""
"0000704637"	"1"	"73"	"17"	"48277237"	"48277237"	"subst"	"0"	"03894"	"COL1A1_001090"	"g.48277237G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"two adjacent de novo variants on the same allele;   pathogenicity prediction of the two variants indeterminate, Arg59Trp located at more conservative site among different species"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704638"	"0"	"11"	"17"	"48277235"	"48277235"	"subst"	"0.0204306"	"00085"	"COL1A1_000500"	"g.48277235C>A"	""	"{PMID:Mackay et al., 1993:7691343} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs1057297"	"0"	""	""	"g.50199874C>A"	""	"likely benign"	""
"0000704639"	"0"	"99"	"17"	"48277233"	"48277235"	"delins"	"0"	"03894"	"COL1A1_001150"	"g.48277233_48277235delinsCT"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704640"	"0"	"97"	"17"	"48277234"	"48277234"	"subst"	"3.24992E-5"	"03894"	"COL1A1_001096"	"g.48277234T>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704641"	"0"	"99"	"17"	"48277230"	"48277230"	"subst"	"0"	"00085"	"COL1A1_000686"	"g.48277230C>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199869C>A"	""	"pathogenic"	""
"0000704642"	"0"	"99"	"17"	"48277230"	"48277230"	"subst"	"0"	"00085"	"COL1A1_000686"	"g.48277230C>A"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199869C>A"	""	"pathogenic"	""
"0000704643"	"1"	"77"	"17"	"48277225"	"48277225"	"subst"	"0"	"03894"	"COL1A1_001091"	"g.48277225A>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"two adjacent de novo variants on the same allele;   pathogenicity prediction of the two variants indeterminate, Cys63Ser more likely to affect the structure of α1(I) chain"	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704644"	"0"	"99"	"17"	"48277223"	"48277223"	"subst"	"0"	"03882"	"COL1A1_000925"	"g.48277223G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199862G>T"	""	"pathogenic"	""
"0000704645"	"0"	"99"	"17"	"48277223"	"48277223"	"subst"	"0"	"00085"	"COL1A1_000925"	"g.48277223G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199862G>T"	""	"pathogenic"	""
"0000704646"	"0"	"95"	"17"	"48277223"	"48277223"	"subst"	"0"	"01819"	"COL1A1_000925"	"g.48277223G>T"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199862G>T"	""	"VUS"	""
"0000704647"	"0"	"99"	"17"	"48277223"	"48277223"	"dup"	"0"	"03870"	"COL1A1_001049"	"g.48277223dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704648"	"0"	"99"	"17"	"48277223"	"48277223"	"dup"	"0"	"03870"	"COL1A1_001049"	"g.48277223dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704649"	"0"	"99"	"17"	"48277223"	"48277223"	"dup"	"0"	"03870"	"COL1A1_001049"	"g.48277223dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704650"	"0"	"99"	"17"	"48277209"	"48277215"	"dup"	"0"	"00085"	"COL1A1_000931"	"g.48277209_48277215dup"	""	"{PMID:Kaneto et al., 2014:24767406}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199848_50199854dup"	""	"pathogenic"	""
"0000704651"	"0"	"99"	"17"	"48277213"	"48277213"	"subst"	"0"	"03870"	"COL1A1_000536"	"g.48277213T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199852T>A"	""	"pathogenic"	""
"0000704652"	"0"	"99"	"17"	"48277200"	"48277200"	"del"	"0"	"03894"	"COL1A1_001134"	"g.48277200del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704653"	"0"	"99"	"17"	"48277181"	"48277181"	"del"	"0"	"00085"	"COL1A1_001164"	"g.48277181del"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199820del"	""	"pathogenic"	""
"0000704654"	"0"	"99"	"17"	"48277169"	"48277169"	"del"	"0"	"00085"	"COL1A1_000285"	"g.48277169del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667010"	"0"	""	""	"g.50199808del"	""	"pathogenic"	""
"0000704655"	"0"	"95"	"17"	"48277164"	"48277165"	"ins"	"0"	"03894"	"COL1A1_001144"	"g.48277164_48277165insAGTCCTT"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704656"	"0"	"99"	"17"	"48277159"	"48277159"	"subst"	"0"	"00085"	"COL1A1_001175"	"g.48277159C>A"	""	"{PMID:Mrosk et al., 2018:29499418}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199798C>A"	""	"pathogenic"	""
"0000704657"	"0"	"95"	"17"	"48277150"	"48277150"	"subst"	"0"	"03894"	"COL1A1_001089"	"g.48277150C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704658"	"1"	"33"	"17"	"48277146"	"48277146"	"subst"	"0"	"03855"	"COL1A1_000629"	"g.48277146C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199785C>A"	""	"benign"	""
"0000704659"	"0"	"99"	"17"	"48277146"	"48277146"	"delins"	"0"	"03853"	"COL1A1_000578"	"g.48277146delinsTCCCCGGGACGGCG"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199785delinsTCCCCGGGACGGCG"	""	"pathogenic"	""
"0000704660"	"0"	"99"	"17"	"48277144"	"48277144"	"subst"	"0"	"00085"	"COL1A1_001244"	"g.48277144C>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704661"	"0"	"99"	"17"	"48277012"	"48277145"	"del"	"0"	"00085"	"COL1A1_000687"	"g.48277012_48277145del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199651_50199784del"	""	"pathogenic"	""
"0000704662"	"0"	"95"	"17"	"48277136"	"48277136"	"del"	"0"	"03894"	"COL1A1_001112"	"g.48277136del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704663"	"0"	"99"	"17"	"48277131"	"48277131"	"subst"	"0"	"00085"	"COL1A1_001063"	"g.48277131A>T"	""	"{PMID:Yang et al., 2018:29344653}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199770A>T"	""	"pathogenic"	""
"0000704664"	"20"	"99"	"17"	"48277127"	"48277127"	"subst"	"0"	"00475"	"COL1A1_000632"	"g.48277127G>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199766G>T"	""	"pathogenic"	""
"0000704665"	"0"	"99"	"17"	"48276939"	"48276958"	"del"	"0"	"03855"	"COL1A1_000585"	"g.48276939_48276958del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199578_50199597del"	""	"pathogenic"	""
"0000704666"	"0"	"95"	"17"	"48276952"	"48276952"	"subst"	"0"	"03894"	"COL1A1_001088"	"g.48276952C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704667"	"0"	"99"	"17"	"48276952"	"48276952"	"subst"	"0"	"03870"	"COL1A1_000552"	"g.48276952C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199591C>G"	""	"pathogenic"	""
"0000704668"	"1"	"79"	"17"	"48276952"	"48276952"	"subst"	"0"	"03855"	"COL1A1_000552"	"g.48276952C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199591C>G"	""	"pathogenic"	""
"0000704669"	"0"	"99"	"17"	"48276952"	"48276952"	"subst"	"0"	"03870"	"COL1A1_000552"	"g.48276952C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199591C>G"	""	"pathogenic"	""
"0000704670"	"0"	"99"	"17"	"48276952"	"48276952"	"subst"	"0"	"03897"	"COL1A1_000552"	"g.48276952C>G"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199591C>G"	""	"pathogenic"	""
"0000704671"	"0"	"99"	"17"	"48276952"	"48276953"	"del"	"0"	"03870"	"COL1A1_000995"	"g.48276952_48276953del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199591_50199592del"	""	"pathogenic"	""
"0000704672"	"0"	"99"	"17"	"48276950"	"48276951"	"ins"	"0"	"00085"	"COL1A1_000286"	"g.48276950_48276951insG"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667011"	"0"	""	""	"g.50199589_50199590insG"	""	"pathogenic"	""
"0000704673"	"0"	"99"	"17"	"48276950"	"48276951"	"ins"	"0"	"00085"	"COL1A1_000286"	"g.48276950_48276951insG"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667011"	"0"	""	""	"g.50199589_50199590insG"	""	"pathogenic"	""
"0000704674"	"0"	"99"	"17"	"48276942"	"48276942"	"del"	"0"	"03894"	"COL1A1_001085"	"g.48276942del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199581del"	""	"pathogenic"	""
"0000704675"	"0"	"99"	"17"	"48276929"	"48276939"	"del"	"0"	"00085"	"COL1A1_000688"	"g.48276929_48276939del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199568_50199578del"	""	"pathogenic"	""
"0000704676"	"0"	"99"	"17"	"48276916"	"48276917"	"delins"	"0"	"03704"	"COL1A1_000143"	"g.48276916_48276917delinsGA"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199555_50199556delinsGA"	""	"pathogenic"	""
"0000704677"	"0"	"95"	"17"	"48276916"	"48276916"	"subst"	"0"	"03894"	"COL1A1_001126"	"g.48276916C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704678"	"0"	"99"	"17"	"48276915"	"48276915"	"subst"	"0"	"00085"	"COL1A1_000169"	"g.48276915A>G"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667012"	"0"	""	""	"g.50199554A>G"	""	"pathogenic"	""
"0000704679"	"10"	"99"	"17"	"48276915"	"48276915"	"subst"	"0"	"03879"	"COL1A1_000169"	"g.48276915A>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667012"	"0"	""	""	"g.50199554A>G"	""	"pathogenic"	""
"0000704680"	"11"	"99"	"17"	"48276915"	"48276915"	"subst"	"0"	"03879"	"COL1A1_000169"	"g.48276915A>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667012"	"0"	""	""	"g.50199554A>G"	""	"pathogenic"	""
"0000704681"	"0"	"99"	"17"	"48276823"	"48276823"	"subst"	"0"	"00085"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199462T>C"	""	"pathogenic"	""
"0000704682"	"0"	"99"	"17"	"48276816"	"48276816"	"subst"	"0"	"00085"	"COL1A1_000201"	"g.48276816T>C"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667013"	"0"	""	""	"g.50199455T>C"	""	"pathogenic"	""
"0000704683"	"0"	"95"	"17"	"48276815"	"48276815"	"subst"	"0"	"03897"	"COL1A1_001318"	"g.48276815C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199454C>T"	""	"VUS"	""
"0000704684"	"0"	"99"	"17"	"48276790"	"48276790"	"subst"	"0"	"03885"	"COL1A1_000944"	"g.48276790G>A"	""	"{PMID: Bardai et al., 2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199429G>A"	""	"pathogenic"	""
"0000704685"	"0"	"95"	"17"	"48276790"	"48276790"	"subst"	"0"	"03894"	"COL1A1_000944"	"g.48276790G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704686"	"0"	"99"	"17"	"48276689"	"48276691"	"delins"	"0"	"03870"	"COL1A1_000996"	"g.48276689_48276691delinsGA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199328_50199330delinsGA"	""	"pathogenic"	""
"0000704687"	"0"	"99"	"17"	"48276689"	"48276691"	"delins"	"0"	"03870"	"COL1A1_000996"	"g.48276689_48276691delinsGA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199328_50199330delinsGA"	""	"pathogenic"	""
"0000704688"	"0"	"99"	"17"	"48276689"	"48276689"	"subst"	"0"	"00085"	"COL1A1_000689"	"g.48276689C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199328C>T"	""	"pathogenic"	""
"0000704689"	"0"	"95"	"17"	"48276689"	"48276689"	"subst"	"0"	"03894"	"COL1A1_000689"	"g.48276689C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704690"	"0"	"95"	"17"	"48276689"	"48276689"	"subst"	"0"	"03897"	"COL1A1_000689"	"g.48276689C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199328C>T"	""	"VUS"	""
"0000704691"	"0"	"99"	"17"	"48276677"	"48276677"	"del"	"0"	"00085"	"COL1A1_000288"	"g.48276677del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72667014"	"0"	""	""	"g.50199316del"	""	"pathogenic"	""
"0000704692"	"10"	"99"	"17"	"48276677"	"48276677"	"del"	"0"	"00475"	"COL1A1_000288"	"g.48276677del"	""	""	""	""	""	"Unknown"	""	"rs72667014"	"0"	""	""	"g.50199316del"	""	"pathogenic"	""
"0000704693"	"0"	"99"	"17"	"48276677"	"48276677"	"del"	"0"	"03870"	"COL1A1_000288"	"g.48276677del"	""	""	""	""	""	"Unknown"	""	"rs72667014"	"0"	""	""	"g.50199316del"	""	"pathogenic"	""
"0000704694"	"0"	"99"	"17"	"48276677"	"48276677"	"del"	"0"	"03870"	"COL1A1_000288"	"g.48276677del"	""	""	""	""	""	"Unknown"	""	"rs72667014"	"0"	""	""	"g.50199316del"	""	"pathogenic"	""
"0000704695"	"0"	"95"	"17"	"48276672"	"48276672"	"del"	"0"	"03894"	"COL1A1_000288"	"g.48276672del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72667014"	"0"	""	""	""	""	"VUS"	""
"0000704696"	"0"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"00085"	"COL1A1_000287"	"g.48276677dup"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000704697"	"0"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03870"	"COL1A1_000287"	"g.48276677dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000704698"	"21"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03870"	"COL1A1_000287"	"g.48276677dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000704699"	"0"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03855"	"COL1A1_000287"	"g.48276677dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000704700"	"0"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"00085"	"COL1A1_000287"	"g.48276677dup"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000704701"	"0"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03870"	"COL1A1_000287"	"g.48276677dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000704702"	"0"	"99"	"17"	"48276677"	"48276677"	"dup"	"0"	"03870"	"COL1A1_000287"	"g.48276677dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000704703"	"0"	"99"	"17"	"48276668"	"48276669"	"ins"	"0"	"00085"	"COL1A1_000289"	"g.48276668_48276669insT"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667015"	"0"	""	""	"g.50199307_50199308insT"	""	"pathogenic"	""
"0000704704"	"21"	"99"	"17"	"48276667"	"48276667"	"subst"	"0"	"03870"	"COL1A1_000456"	"g.48276667G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199306G>A"	""	"pathogenic"	""
"0000704705"	"0"	"99"	"17"	"48276667"	"48276667"	"subst"	"0"	"00085"	"COL1A1_000456"	"g.48276667G>A"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199306G>A"	""	"pathogenic"	""
"0000704706"	"0"	"99"	"17"	"48276667"	"48276667"	"subst"	"0"	"00085"	"COL1A1_000456"	"g.48276667G>A"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199306G>A"	""	"pathogenic"	""
"0000704707"	"0"	"99"	"17"	"48276667"	"48276667"	"subst"	"0"	"00085"	"COL1A1_000456"	"g.48276667G>A"	""	"{PMID:Árvai et al., 2016:27335225}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199306G>A"	""	"pathogenic"	""
"0000704708"	"0"	"99"	"17"	"48275786"	"48276666"	"delins"	"0"	"00085"	"COL1A1_000295"	"g.48275786_48276666delinsA"	""	"{PMID:Nicholls et al., 2000:11073542}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198425_50199305delinsA"	""	"pathogenic"	""
"0000704709"	"0"	"99"	"17"	"48276646"	"48276649"	"del"	"0"	"03870"	"COL1A1_000997"	"g.48276646_48276649del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199285_50199288del"	""	"pathogenic"	""
"0000704710"	"0"	"95"	"17"	"48276639"	"48276642"	"del"	"0"	"03894"	"COL1A1_001123"	"g.48276639_48276642del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704711"	"0"	"99"	"17"	"48276637"	"48276637"	"del"	"0"	"00085"	"COL1A1_000682"	"g.48276637del"	""	"{PMID:Ellison, 2010:21488280}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199276del"	""	"pathogenic"	""
"0000704712"	"0"	"99"	"17"	"48276631"	"48276631"	"del"	"0"	"00085"	"COL1A1_000290"	"g.48276631del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72667016"	"0"	""	""	"g.50199270del"	""	"pathogenic"	""
"0000704713"	"0"	"99"	"17"	"48276631"	"48276631"	"dup"	"0"	"03870"	"COL1A1_000665"	"g.48276631dup"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199270dup"	""	"pathogenic"	""
"0000704714"	"11"	"99"	"17"	"48276631"	"48276631"	"dup"	"0"	"03879"	"COL1A1_000665"	"g.48276631dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199270dup"	""	"pathogenic"	""
"0000704715"	"10"	"99"	"17"	"48276631"	"48276631"	"dup"	"0"	"03879"	"COL1A1_000665"	"g.48276631dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199270dup"	""	"pathogenic"	""
"0000704716"	"0"	"95"	"17"	"48276626"	"48276626"	"dup"	"0"	"03894"	"COL1A1_000665"	"g.48276626dup"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704717"	"0"	"99"	"17"	"48276624"	"48276625"	"ins"	"0"	"00085"	"COL1A1_001245"	"g.48276624_48276625insG"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704718"	"0"	"55"	"17"	"48276622"	"48276622"	"subst"	"9.77651E-6"	"03704"	"COL1A1_000493"	"g.48276622G>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72656308"	"0"	""	""	"g.50199261G>T"	""	"VUS"	""
"0000704719"	"0"	"99"	"17"	"48276622"	"48276622"	"del"	"0"	"03853"	"COL1A1_000463"	"g.48276622del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199261del"	""	"pathogenic"	""
"0000704720"	"0"	"99"	"17"	"48276622"	"48276622"	"del"	"0"	"00085"	"COL1A1_000463"	"g.48276622del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199261del"	""	"pathogenic"	""
"0000704721"	"0"	"99"	"17"	"48276622"	"48276622"	"del"	"0"	"00085"	"COL1A1_000463"	"g.48276622del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199261del"	""	"pathogenic"	""
"0000704722"	"0"	"79"	"17"	"48276622"	"48276622"	"dup"	"0"	"03855"	"COL1A1_000581"	"g.48276622dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199261dup"	""	"pathogenic"	""
"0000704723"	"0"	"95"	"17"	"48276617"	"48276617"	"dup"	"0"	"03894"	"COL1A1_000581"	"g.48276617dup"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704724"	"0"	"99"	"17"	"48276617"	"48276617"	"dup"	"0"	"00085"	"COL1A1_000581"	"g.48276617dup"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704725"	"0"	"99"	"17"	"48276616"	"48276616"	"subst"	"0"	"03885"	"COL1A1_000945"	"g.48276616C>A"	""	"{PMID: Bardai et al., 2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199255C>A"	""	"pathogenic"	""
"0000704726"	"21"	"99"	"17"	"48276604"	"48276604"	"dup"	"0"	"03879"	"COL1A1_000847"	"g.48276604dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199243dup"	""	"pathogenic"	""
"0000704727"	"0"	"99"	"17"	"48276604"	"48276604"	"dup"	"0"	"03879"	"COL1A1_000847"	"g.48276604dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199243dup"	""	"pathogenic"	""
"0000704728"	"21"	"99"	"17"	"48276604"	"48276604"	"dup"	"0"	"03879"	"COL1A1_000847"	"g.48276604dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199243dup"	""	"pathogenic"	""
"0000704729"	"21"	"99"	"17"	"48276604"	"48276604"	"dup"	"0"	"03879"	"COL1A1_000847"	"g.48276604dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199243dup"	""	"pathogenic"	""
"0000704730"	"0"	"99"	"17"	"48276599"	"48276599"	"del"	"0"	"03704"	"COL1A1_000291"	"g.48276599del"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72667017"	"0"	""	""	"g.50199238del"	""	"pathogenic"	""
"0000704731"	"0"	"99"	"17"	"48276599"	"48276599"	"del"	"0"	"03897"	"COL1A1_000291"	"g.48276599del"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs72667017"	"0"	""	""	"g.50199238del"	""	"pathogenic"	""
"0000704732"	"0"	"99"	"17"	"48276597"	"48276597"	"subst"	"0"	"00085"	"COL1A1_000941"	"g.48276597C>A"	""	"{PMID:Mauri et al., 2016:27484908}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199236C>A"	""	"pathogenic"	""
"0000704733"	"0"	"11"	"17"	"48276596"	"48276596"	"subst"	"0.00081625"	"00085"	"COL1A1_000507"	"g.48276596G>A"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41317351"	"0"	""	""	"g.50199235G>A"	""	"likely benign"	""
"0000704734"	"0"	"99"	"17"	"48276589"	"48276589"	"subst"	"0"	"03870"	"COL1A1_000998"	"g.48276589C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199228C>A"	""	"pathogenic"	""
"0000704735"	"11"	"99"	"17"	"48276589"	"48276589"	"subst"	"0"	"03870"	"COL1A1_000998"	"g.48276589C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199228C>A"	""	"pathogenic"	""
"0000704736"	"0"	"99"	"17"	"48276586"	"48276586"	"subst"	"0"	"00085"	"COL1A1_000202"	"g.48276586C>T"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72667018"	"0"	""	""	"g.50199225C>T"	""	"pathogenic"	""
"0000704737"	"21"	"99"	"17"	"48276586"	"48276586"	"subst"	"0"	"00085"	"COL1A1_000202"	"g.48276586C>T"	""	"{PMID:Ni et al., 2017:28901398}"	""	""	""	"Unknown"	""	"rs72667018"	"0"	""	""	"g.50199225C>T"	""	"pathogenic"	""
"0000704738"	"0"	"99"	"17"	"48276586"	"48276586"	"subst"	"0"	"03885"	"COL1A1_000946"	"g.48276586C>G"	""	"{PMID: Bardai et al., 2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199225C>G"	""	"pathogenic"	""
"0000704739"	"0"	"99"	"17"	"48276586"	"48276586"	"subst"	"0"	"03870"	"COL1A1_000946"	"g.48276586C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50199225C>G"	""	"pathogenic"	""
"0000704740"	"0"	"99"	"17"	"48275867"	"48275867"	"subst"	"0"	"00085"	"COL1A1_000367"	"g.48275867T>C"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72667019"	"0"	""	""	"g.50198506T>C"	""	"pathogenic"	""
"0000704741"	"0"	"99"	"17"	"48275867"	"48275867"	"subst"	"0"	"00085"	"COL1A1_000751"	"g.48275867T>A"	""	"{PMID:Giunta et al., 2008:18409203}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198506T>A"	""	"pathogenic"	""
"0000704742"	"0"	"99"	"17"	"48275866"	"48275866"	"subst"	"0"	"03704"	"COL1A1_000141"	"g.48275866C>T"	""	"{PMID:Byers et al., 1997:9295084}"	""	""	""	"Unknown"	""	"rs72667020"	"0"	""	""	"g.50198505C>T"	""	"pathogenic"	""
"0000704743"	"0"	"99"	"17"	"48275866"	"48275866"	"subst"	"0"	"00085"	"COL1A1_000141"	"g.48275866C>T"	""	"{PMID:Nicholls et al., 2000:11073542}"	""	""	""	"Unknown"	""	"rs72667020"	"0"	""	""	"g.50198505C>T"	""	"pathogenic"	""
"0000704744"	"0"	"99"	"17"	"48266263"	"48275866"	"del"	"0"	"03854"	"COL1A1_000754"	"g.(48266157_48266263)_(48275866_48276586)del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.(50188796_50188902)_(50198505_50199225)del"	""	"pathogenic"	""
"0000704745"	"0"	"99"	"17"	"48275862"	"48275862"	"dup"	"0"	"00085"	"COL1A1_000912"	"g.48275862dup"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198501dup"	""	"pathogenic"	""
"0000704746"	"0"	"99"	"17"	"48275853"	"48275853"	"subst"	"0"	"03870"	"COL1A1_000999"	"g.48275853G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198492G>A"	""	"pathogenic"	""
"0000704747"	"0"	"99"	"17"	"48275853"	"48275853"	"subst"	"0"	"00085"	"COL1A1_000999"	"g.48275853G>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704748"	"0"	"95"	"17"	"48275842"	"48275842"	"subst"	"0"	"03897"	"COL1A1_001308"	"g.48275842A>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50198481A>T"	""	"VUS"	""
"0000704749"	"0"	"99"	"17"	"48275832"	"48275832"	"subst"	"0"	"03897"	"COL1A1_001233"	"g.48275832C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198471C>T"	""	"pathogenic"	""
"0000704750"	"11"	"99"	"17"	"48275831"	"48275831"	"del"	"0"	"03870"	"COL1A1_000655"	"g.48275831del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198470del"	""	"pathogenic"	""
"0000704751"	"0"	"99"	"17"	"48275831"	"48275831"	"del"	"0"	"03870"	"COL1A1_000655"	"g.48275831del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198470del"	""	"pathogenic"	""
"0000704752"	"0"	"99"	"17"	"48275831"	"48275831"	"del"	"0"	"03870"	"COL1A1_000655"	"g.48275831del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198470del"	""	"pathogenic"	""
"0000704753"	"0"	"97"	"17"	"48275820"	"48275820"	"subst"	"8.16567E-6"	"00085"	"COL1A1_000901"	"g.48275820C>T"	""	"{PMID:Taillandier et al., 2015:26432670}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198459C>T"	""	"likely pathogenic"	""
"0000704754"	"0"	"99"	"17"	"48275820"	"48275820"	"subst"	"0"	"03872"	"COL1A1_000843"	"g.48275820C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198459C>A"	""	"pathogenic"	""
"0000704755"	"10"	"99"	"17"	"48275820"	"48275820"	"subst"	"0"	"03879"	"COL1A1_000843"	"g.48275820C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198459C>A"	""	"pathogenic"	""
"0000704756"	"0"	"99"	"17"	"48275805"	"48275805"	"del"	"0"	"00085"	"COL1A1_000292"	"g.48275805del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667021"	"0"	""	""	"g.50198444del"	""	"pathogenic"	""
"0000704757"	"0"	"99"	"17"	"48275800"	"48275800"	"dup"	"0"	"00085"	"COL1A1_000835"	"g.48275800dup"	""	"{PMID:Wallace et al., 2014:25324685}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198439dup"	""	"pathogenic"	""
"0000704758"	"0"	"99"	"17"	"48275794"	"48275794"	"subst"	"0"	"00085"	"COL1A1_000205"	"g.48275794C>T"	""	"{PMID:Weil et al., 1989:2767050}"	""	""	""	"Unknown"	""	"rs72667022"	"0"	""	""	"g.50198433C>T"	""	"pathogenic"	""
"0000704759"	"0"	"99"	"17"	"48275794"	"48275794"	"subst"	"0"	"00085"	"COL1A1_000205"	"g.48275794C>T"	""	"{PMID:D\'Alessio et al., 1991:1867198}"	""	""	""	"Unknown"	""	"rs72667022"	"0"	""	""	"g.50198433C>T"	""	"pathogenic"	""
"0000704760"	"0"	"99"	"17"	"48275793"	"48275793"	"subst"	"0"	"03870"	"COL1A1_001001"	"g.48275793C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198432C>G"	""	"pathogenic"	""
"0000704761"	"0"	"99"	"17"	"48275792"	"48275792"	"subst"	"0"	"01819"	"COL1A1_000722"	"g.48275792A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198431A>G"	""	"pathogenic"	""
"0000704762"	"0"	"59"	"17"	"48275790"	"48275790"	"subst"	"0"	"03855"	"COL1A1_000586"	"g.48275790T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198429T>A"	""	"pathogenic"	""
"0000704763"	"0"	"99"	"17"	"48275789"	"48275789"	"subst"	"0"	"03872"	"COL1A1_000884"	"g.48275789C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198428C>T"	""	"pathogenic"	""
"0000704764"	"0"	"59"	"17"	"48275568"	"48275568"	"subst"	"0"	"03855"	"COL1A1_000587"	"g.48275568T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198207T>C"	""	"pathogenic"	""
"0000704765"	"20"	"99"	"17"	"48275567"	"48275567"	"subst"	"0"	"03873"	"COL1A1_000808"	"g.48275567C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198206C>A"	""	"pathogenic"	""
"0000704766"	"0"	"99"	"17"	"48275547"	"48275547"	"subst"	"0"	"01819"	"COL1A1_000706"	"g.48275547C>T"	""	"{PMID:Malfait et al., 2013:23692737}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198186C>T"	""	"pathogenic"	""
"0000704767"	"0"	"99"	"17"	"48275547"	"48275547"	"subst"	"0"	"03879"	"COL1A1_000706"	"g.48275547C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198186C>T"	""	"pathogenic"	""
"0000704768"	"0"	"99"	"17"	"48275538"	"48275538"	"subst"	"0"	"00085"	"COL1A1_000002"	"g.48275538C>T"	""	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	"Unknown"	""	"rs67828806"	"0"	""	""	"g.50198177C>T"	"{ClinVar17348}"	"pathogenic"	""
"0000704769"	"0"	"99"	"17"	"48275538"	"48275538"	"subst"	"0"	"00085"	"COL1A1_000001"	"g.48275538C>G"	""	"{PMID:Mayer et al., 1996:8757037}"	""	""	""	"Unknown"	""	"rs67828806"	"0"	""	""	"g.50198177C>G"	"{ClinVar17334}"	"pathogenic"	""
"0000704770"	"0"	"99"	"17"	"48275538"	"48275538"	"subst"	"0"	"03704"	"COL1A1_000001"	"g.48275538C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67828806"	"0"	""	""	"g.50198177C>G"	"{ClinVar17334}"	"pathogenic"	""
"0000704771"	"0"	"99"	"17"	"48275536"	"48275537"	"delins"	"0"	"00085"	"COL1A1_001249"	"g.48275536_48275537delinsC"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704772"	"0"	"99"	"17"	"48275537"	"48275537"	"dup"	"0"	"03870"	"COL1A1_000657"	"g.48275537dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198176dup"	""	"pathogenic"	""
"0000704773"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00085"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704774"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03870"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704775"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00085"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704776"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00475"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704777"	"21"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00475"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704778"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03862"	"COL1A1_000293"	"g.48275531del"	""	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704779"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00085"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704780"	"11"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03870"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704781"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00085"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704782"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03870"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704783"	"20"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704784"	"21"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704785"	"20"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704786"	"21"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704787"	"21"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704788"	"20"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704789"	"20"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704790"	"10"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03879"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704791"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00085"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704792"	"11"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03870"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704793"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03870"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704794"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03870"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704795"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00085"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704796"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"00085"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704797"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"03897"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs72667023"	"0"	""	""	"g.50198170del"	"{ClinVar35925}"	"pathogenic"	""
"0000704798"	"0"	"99"	"17"	"48275530"	"48275530"	"subst"	"0"	"01819"	"COL1A1_000707"	"g.48275530C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198169C>T"	""	"pathogenic"	""
"0000704799"	"0"	"99"	"17"	"48275530"	"48275530"	"subst"	"0"	"00085"	"COL1A1_000004"	"g.48275530C>G"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72667024"	"0"	""	""	"g.50198169C>G"	""	"pathogenic"	""
"0000704800"	"0"	"99"	"17"	"48275529"	"48275529"	"subst"	"0"	"00085"	"COL1A1_001019"	"g.48275529C>T"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198168C>T"	""	"pathogenic"	""
"0000704801"	"0"	"99"	"17"	"48275529"	"48275529"	"subst"	"0"	"03870"	"COL1A1_000667"	"g.48275529C>G"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198168C>G"	""	"pathogenic"	""
"0000704802"	"0"	"99"	"17"	"48275529"	"48275529"	"subst"	"0"	"03870"	"COL1A1_000667"	"g.48275529C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198168C>G"	""	"pathogenic"	""
"0000704803"	"0"	"99"	"17"	"48275520"	"48275521"	"ins"	"0"	"00085"	"COL1A1_000703"	"g.48275520_48275521insAA"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198159_50198160insAA"	""	"pathogenic"	""
"0000704804"	"0"	"99"	"17"	"48275518"	"48275518"	"subst"	"0"	"00085"	"COL1A1_000215"	"g.48275518T>A"	""	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	"Unknown"	""	"rs72667026"	"0"	""	""	"g.50198157T>A"	""	"pathogenic"	""
"0000704805"	"0"	"99"	"17"	"48275518"	"48275518"	"subst"	"0"	"03870"	"COL1A1_000215"	"g.48275518T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198157T>A"	""	"pathogenic"	""
"0000704806"	"0"	"95"	"17"	"48275517"	"48275517"	"subst"	"0"	"03894"	"COL1A1_001139"	"g.48275517C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704807"	"0"	"99"	"17"	"48275365"	"48275365"	"subst"	"0"	"00085"	"COL1A1_000371"	"g.48275365T>C"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72667027"	"0"	""	""	"g.50198004T>C"	""	"pathogenic"	""
"0000704808"	"0"	"99"	"17"	"48275541"	"48275541"	"del"	"0"	"00085"	"COL1A1_001248"	"g.48275541del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704809"	"0"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"00085"	"COL1A1_000006"	"g.48275363C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>T"	""	"pathogenic"	""
"0000704810"	"0"	"79"	"17"	"48275363"	"48275363"	"subst"	"0"	"03855"	"COL1A1_000582"	"g.48275363C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198002C>G"	""	"pathogenic"	""
"0000704811"	"0"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"00085"	"COL1A1_000005"	"g.48275363C>A"	""	"Nicholls et al., 1990 {Localnicholls_et_al_1990.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704812"	"0"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"00085"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Lund et al., 1998:9594376}"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704813"	"0"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"03704"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704814"	"0"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"00085"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704815"	"0"	"79"	"17"	"48275363"	"48275363"	"subst"	"0"	"03855"	"COL1A1_000005"	"g.48275363C>A"	""	""	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704816"	"0"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"03879"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704817"	"21"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"03879"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704818"	"21"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"03879"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704819"	"20"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"03879"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704820"	"20"	"99"	"17"	"48275363"	"48275363"	"subst"	"0"	"03879"	"COL1A1_000005"	"g.48275363C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic"	""
"0000704821"	"0"	"99"	"17"	"48275362"	"48275362"	"subst"	"0"	"00085"	"COL1A1_000007"	"g.48275362C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72667028"	"0"	""	""	"g.50198001C>T"	""	"pathogenic"	""
"0000704822"	"0"	"99"	"17"	"48275362"	"48275362"	"subst"	"0"	"03873"	"COL1A1_000007"	"g.48275362C>T"	""	""	""	""	""	"Unknown"	""	"rs72667028"	"0"	""	""	"g.50198001C>T"	""	"pathogenic"	""
"0000704823"	"0"	"99"	"17"	"48275362"	"48275362"	"subst"	"0"	"00085"	"COL1A1_000007"	"g.48275362C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72667028"	"0"	""	""	"g.50198001C>T"	""	"pathogenic"	""
"0000704824"	"0"	"99"	"17"	"48275362"	"48275362"	"subst"	"0"	"00085"	"COL1A1_000007"	"g.48275362C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs72667028"	"0"	""	""	"g.50198001C>T"	""	"pathogenic"	""
"0000704825"	"0"	"99"	"17"	"48275362"	"48275362"	"subst"	"0"	"03870"	"COL1A1_001003"	"g.48275362C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50198001C>G"	""	"pathogenic"	""
"0000704826"	"0"	"95"	"17"	"48275362"	"48275362"	"subst"	"0"	"03894"	"COL1A1_001119"	"g.48275362C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704827"	"0"	"99"	"17"	"48275360"	"48275360"	"del"	"0"	"00085"	"COL1A1_001074"	"g.48275360del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197999del"	""	"pathogenic"	""
"0000704828"	"11"	"99"	"17"	"48275353"	"48275353"	"subst"	"0"	"00085"	"COL1A1_000452"	"g.48275353C>A"	""	"{PMID:Witecka et al., 2008:18670065}"	""	""	""	"Unknown"	""	"rs72667029"	"0"	""	""	"g.50197992C>A"	""	"pathogenic"	""
"0000704829"	"0"	"99"	"17"	"48275353"	"48275353"	"subst"	"0"	"00085"	"COL1A1_000452"	"g.48275353C>A"	""	"{PMID:Balasubramanian et al., 2015:25436829}"	""	""	""	"Unknown"	""	"rs72667029"	"0"	""	""	"g.50197992C>A"	""	"pathogenic"	""
"0000704830"	"0"	"95"	"17"	"48275353"	"48275353"	"subst"	"0"	"03894"	"COL1A1_000452"	"g.48275353C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72667029"	"0"	""	""	""	""	"VUS"	""
"0000704831"	"0"	"99"	"17"	"48275353"	"48275353"	"subst"	"0"	"00085"	"COL1A1_000452"	"g.48275353C>A"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs72667029"	"0"	""	""	"g.50197992C>A"	""	"pathogenic"	""
"0000704832"	"0"	"99"	"17"	"48275345"	"48275345"	"subst"	"0"	"00085"	"COL1A1_000690"	"g.48275345C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197984C>T"	""	"pathogenic"	""
"0000704833"	"0"	"99"	"17"	"48275345"	"48275345"	"subst"	"0"	"03704"	"COL1A1_000008"	"g.48275345C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72667030"	"0"	""	""	"g.50197984C>G"	""	"pathogenic"	""
"0000704834"	"0"	"99"	"17"	"48275345"	"48275345"	"subst"	"0"	"03704"	"COL1A1_000008"	"g.48275345C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72667030"	"0"	""	""	"g.50197984C>G"	""	"pathogenic"	""
"0000704835"	"0"	"99"	"17"	"48275345"	"48275345"	"subst"	"0"	"01819"	"COL1A1_000748"	"g.48275345C>A"	""	"{PMID:Malfait et al., 2013:23692737}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197984C>A"	""	"pathogenic"	""
"0000704836"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"03870"	"COL1A1_001004"	"g.48275344C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197983C>T"	""	"pathogenic"	""
"0000704837"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"03704"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Marini et al., 2007:17078022}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704838"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"03704"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704839"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"00085"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704840"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"00085"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704841"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"00085"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704842"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"00085"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704843"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"00085"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704844"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"03855"	"COL1A1_000009"	"g.48275344C>A"	""	""	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704845"	"0"	"59"	"17"	"48275344"	"48275344"	"subst"	"0"	"00475"	"COL1A1_000009"	"g.48275344C>A"	""	""	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704846"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"03888"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Gardner et al., 2018:29644031}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704847"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"03894"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704848"	"21"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"00085"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704849"	"0"	"99"	"17"	"48275344"	"48275344"	"subst"	"0"	"00085"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic"	""
"0000704850"	"0"	"11"	"17"	"48275340"	"48275340"	"subst"	"0.00113013"	"03704"	"COL1A1_000501"	"g.48275340G>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197979G>A"	""	"likely benign"	""
"0000704851"	"0"	"99"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00085"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Spotila et al., 1994:8079666}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"pathogenic"	""
"0000704852"	"0"	"99"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00085"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Spotila et al., 1994:8079666}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"pathogenic"	""
"0000704853"	"0"	"97"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00085"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"likely pathogenic"	""
"0000704854"	"0"	"99"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00085"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	""	"The patient and variant were presented as a poster (3124/F/Poster Board #1056) at the ASHG 2009 conference."	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"pathogenic"	""
"0000704855"	"0"	"15"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03855"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"VUS"	""
"0000704856"	"0"	"33"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03855"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"benign"	""
"0000704857"	"3"	"59"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00085"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Shaheen et al., 2010:20696291}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"likely pathogenic"	""
"0000704858"	"0"	"99"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03865"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"pathogenic"	""
"0000704859"	"0"	"99"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03865"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"pathogenic"	""
"0000704860"	"21"	"53"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03879"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"VUS"	""
"0000704861"	"0"	"53"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03879"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"VUS"	""
"0000704862"	"0"	"13"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03879"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"likely benign"	""
"0000704863"	"0"	"11"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03879"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"likely benign"	""
"0000704864"	"0"	"99"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00085"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"pathogenic"	""
"0000704865"	"0"	"77"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"03894"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72667032"	"0"	""	""	"g.50197978G>C"	""	"likely pathogenic"	""
"0000704866"	"0"	"99"	"17"	"48275342"	"48275342"	"del"	"0"	"00085"	"COL1A1_000294"	"g.48275342del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72667033"	"0"	""	""	"g.50197981del"	""	"pathogenic"	""
"0000704867"	"0"	"95"	"17"	"48275338"	"48275338"	"dup"	"0"	"03894"	"COL1A1_001092"	"g.48275338dup"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704868"	"0"	"99"	"17"	"48275335"	"48275335"	"subst"	"0"	"01819"	"COL1A1_000708"	"g.48275335C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197974C>T"	""	"pathogenic"	""
"0000704869"	"0"	"99"	"17"	"48275326"	"48275326"	"subst"	"0"	"00085"	"COL1A1_000814"	"g.48275326C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197965C>T"	""	"pathogenic"	""
"0000704870"	"0"	"95"	"17"	"48275326"	"48275326"	"subst"	"0"	"03894"	"COL1A1_000814"	"g.48275326C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704871"	"0"	"99"	"17"	"48275322"	"48275322"	"del"	"0"	"00085"	"COL1A1_001056"	"g.48275322del"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197961del"	""	"pathogenic"	""
"0000704872"	"0"	"99"	"17"	"48275318"	"48275318"	"subst"	"0"	"00085"	"COL1A1_000011"	"g.48275318C>T"	""	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	"Unknown"	""	"rs72667034"	"0"	""	""	"g.50197957C>T"	""	"pathogenic"	""
"0000704873"	"0"	"99"	"17"	"48275318"	"48275318"	"subst"	"0"	"00085"	"COL1A1_000011"	"g.48275318C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72667034"	"0"	""	""	"g.50197957C>T"	""	"pathogenic"	""
"0000704874"	"0"	"99"	"17"	"48275317"	"48275317"	"subst"	"0"	"00085"	"COL1A1_000691"	"g.48275317C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197956C>T"	""	"pathogenic"	""
"0000704875"	"0"	"99"	"17"	"48275317"	"48275317"	"subst"	"0"	"03872"	"COL1A1_000691"	"g.48275317C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197956C>T"	""	"pathogenic"	""
"0000704876"	"0"	"95"	"17"	"48275317"	"48275317"	"subst"	"0"	"03894"	"COL1A1_000691"	"g.48275317C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704877"	"0"	"99"	"17"	"48275309"	"48275309"	"subst"	"0"	"00085"	"COL1A1_000216"	"g.48275309C>T"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs67364703"	"0"	""	""	"g.50197948C>T"	""	"pathogenic"	""
"0000704878"	"0"	"99"	"17"	"48275309"	"48275309"	"subst"	"0"	"00085"	"COL1A1_000216"	"g.48275309C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs67364703"	"0"	""	""	"g.50197948C>T"	""	"pathogenic"	""
"0000704879"	"0"	"95"	"17"	"48275309"	"48275309"	"subst"	"0"	"03894"	"COL1A1_000216"	"g.48275309C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67364703"	"0"	""	""	""	""	"VUS"	""
"0000704880"	"0"	"95"	"17"	"48275306"	"48275306"	"del"	"0"	"03894"	"COL1A1_001299"	"g.48275306del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"effect on splicing predicted from mini gene splicing assay"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704881"	"0"	"99"	"17"	"48275305"	"48275305"	"subst"	"0"	"00085"	"COL1A1_000370"	"g.48275305C>T"	""	"{PMID:Bateman et al., 1994:7945197}"	""	""	""	"Unknown"	""	"rs72667035"	"0"	""	""	"g.50197944C>T"	""	"pathogenic"	""
"0000704882"	"0"	"99"	"17"	"48275305"	"48275305"	"subst"	"0"	"00085"	"COL1A1_000370"	"g.48275305C>T"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72667035"	"0"	""	""	"g.50197944C>T"	""	"pathogenic"	""
"0000704883"	"0"	"99"	"17"	"48275305"	"48275305"	"subst"	"0"	"03865"	"COL1A1_000370"	"g.48275305C>T"	""	""	""	""	""	"Unknown"	""	"rs72667035"	"0"	""	""	"g.50197944C>T"	""	"pathogenic"	""
"0000704884"	"0"	"99"	"17"	"48275305"	"48275305"	"subst"	"0"	"00085"	"COL1A1_000370"	"g.48275305C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	"rs72667035"	"0"	""	""	"g.50197944C>T"	""	"pathogenic"	""
"0000704885"	"0"	"95"	"17"	"48275305"	"48275305"	"subst"	"0"	"03894"	"COL1A1_001140"	"g.48275305C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704886"	"0"	"99"	"17"	"48275148"	"48275148"	"subst"	"0"	"00085"	"COL1A1_000774"	"g.48275148T>C"	""	"Wu et al., (2007) Medical Bulletin of Shanghai Jiaotong University, 19 (1) 8-11"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197787T>C"	""	"pathogenic"	""
"0000704887"	"0"	"99"	"17"	"48275148"	"48275148"	"subst"	"0"	"00085"	"COL1A1_000774"	"g.48275148T>C"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704888"	"0"	"99"	"17"	"48275146"	"48275146"	"subst"	"0"	"03702"	"COL1A1_000662"	"g.48275146C>T"	""	"{PMID:Vandersteen et al., 2013:24311407}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197785C>T"	""	"pathogenic"	""
"0000704889"	"0"	"99"	"17"	"48275146"	"48275146"	"subst"	"0"	"00085"	"COL1A1_000662"	"g.48275146C>T"	""	"{PMID:Vandersteen et al., 2013:24311407}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197785C>T"	""	"pathogenic"	""
"0000704890"	"0"	"99"	"17"	"48275146"	"48275146"	"subst"	"0"	"03853"	"COL1A1_000461"	"g.48275146C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197785C>G"	""	"pathogenic"	""
"0000704891"	"0"	"99"	"17"	"48275134"	"48275143"	"del"	"0"	"03853"	"COL1A1_000515"	"g.48275134_48275143del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197773_50197782del"	""	"pathogenic"	""
"0000704892"	"0"	"99"	"17"	"48275136"	"48275136"	"subst"	"0"	"03853"	"COL1A1_000540"	"g.48275136C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197775C>T"	""	"pathogenic"	""
"0000704893"	"0"	"95"	"17"	"48275136"	"48275136"	"subst"	"0"	"03897"	"COL1A1_000540"	"g.48275136C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197775C>T"	""	"VUS"	""
"0000704894"	"0"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"00085"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704895"	"10"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"00085"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704896"	"10"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"00085"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704897"	"0"	"59"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"03855"	"COL1A1_000012"	"g.48275131G>A"	""	""	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704898"	"0"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"03870"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704899"	"0"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"00085"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704900"	"20"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"03879"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704901"	"0"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"03872"	"COL1A1_000012"	"g.48275131G>A"	""	""	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704902"	"0"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"00085"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Zhang 2015:26377240}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704903"	"0"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"00085"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704904"	"0"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"03870"	"COL1A1_000012"	"g.48275131G>A"	""	""	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000704905"	"0"	"95"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"03894"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	""	""	"VUS"	""
"0000704906"	"21"	"99"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"00085"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Wang et al., 2019:30984112}"	""	""	""	"Unknown"	""	"rs72667036"	"0"	""	""	""	""	"VUS"	""
"0000704907"	"10"	"95"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"03897"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"VUS"	""
"0000704908"	"0"	"99"	"17"	"48275134"	"48275134"	"del"	"0"	"03870"	"COL1A1_000648"	"g.48275134del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197773del"	""	"pathogenic"	""
"0000704909"	"0"	"99"	"17"	"48275128"	"48275128"	"subst"	"0"	"03853"	"COL1A1_000541"	"g.48275128C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197767C>T"	""	"pathogenic"	""
"0000704910"	"0"	"99"	"17"	"48275128"	"48275128"	"subst"	"0"	"01819"	"COL1A1_000709"	"g.48275128C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197767C>G"	""	"pathogenic"	""
"0000704911"	"0"	"59"	"17"	"48275128"	"48275128"	"subst"	"0"	"01819"	"COL1A1_000709"	"g.48275128C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197767C>G"	""	"pathogenic"	""
"0000704912"	"0"	"99"	"17"	"48275128"	"48275128"	"subst"	"0"	"00085"	"COL1A1_000013"	"g.48275128C>A"	""	"{PMID:Shapiro et al., 1992:1737847}"	""	""	""	"Unknown"	""	"rs72667037"	"0"	""	""	"g.50197767C>A"	""	"pathogenic"	""
"0000704913"	"0"	"99"	"17"	"48275128"	"48275128"	"subst"	"0"	"03704"	"COL1A1_000013"	"g.48275128C>A"	""	"{PMID:Marini et al., 2007:17078022}"	""	""	""	"Unknown"	""	"rs72667037"	"0"	""	""	"g.50197767C>A"	""	"pathogenic"	""
"0000704914"	"0"	"99"	"17"	"48275128"	"48275128"	"subst"	"0"	"03855"	"COL1A1_000013"	"g.48275128C>A"	""	""	""	""	""	"Unknown"	""	"rs72667037"	"0"	""	""	"g.50197767C>A"	""	"pathogenic"	""
"0000704915"	"0"	"79"	"17"	"48275127"	"48275127"	"subst"	"0"	"03855"	"COL1A1_000583"	"g.48275127C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197766C>T"	""	"pathogenic"	""
"0000704916"	"0"	"99"	"17"	"48275127"	"48275127"	"subst"	"0"	"03870"	"COL1A1_000583"	"g.48275127C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197766C>T"	""	"pathogenic"	""
"0000704917"	"0"	"99"	"17"	"48275127"	"48275127"	"subst"	"0"	"00085"	"COL1A1_000939"	"g.48275127C>G"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197766C>G"	""	"pathogenic"	""
"0000704918"	"0"	"99"	"17"	"48275120"	"48275120"	"del"	"0"	"00085"	"COL1A1_000692"	"g.48275120del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197759del"	""	"pathogenic"	""
"0000704919"	"0"	"99"	"17"	"48275119"	"48275119"	"subst"	"0"	"03704"	"COL1A1_000014"	"g.48275119C>A"	""	"{PMID:Byers et al., 1991:1895312}"	""	""	""	"Unknown"	""	"rs72667038"	"0"	""	""	"g.50197758C>A"	""	"pathogenic"	""
"0000704920"	"0"	"99"	"17"	"48275119"	"48275119"	"del"	"0"	"03870"	"COL1A1_000668"	"g.48275119del"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197758del"	""	"pathogenic"	""
"0000704921"	"0"	"99"	"17"	"48275119"	"48275119"	"del"	"0"	"03870"	"COL1A1_000668"	"g.48275119del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197758del"	""	"pathogenic"	""
"0000704922"	"0"	"79"	"17"	"48275118"	"48275118"	"subst"	"0"	"03865"	"COL1A1_000771"	"g.48275118C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197757C>T"	""	"pathogenic"	""
"0000704923"	"0"	"95"	"17"	"48275118"	"48275118"	"subst"	"0"	"03894"	"COL1A1_000771"	"g.48275118C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704924"	"0"	"99"	"17"	"48275118"	"48275118"	"subst"	"0"	"00085"	"COL1A1_000771"	"g.48275118C>T"	""	"{PMID: Lu et al., 2018:29552444}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704925"	"0"	"99"	"17"	"48275116"	"48275117"	"delins"	"0"	"03870"	"COL1A1_000666"	"g.48275116_48275117delinsT"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197755_50197756delinsT"	""	"pathogenic"	""
"0000704926"	"0"	"99"	"17"	"48275100"	"48275100"	"subst"	"0"	"03878"	"COL1A1_000837"	"g.48275100C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197739C>T"	""	"pathogenic"	""
"0000704927"	"0"	"99"	"17"	"48275092"	"48275092"	"subst"	"0"	"03870"	"COL1A1_000649"	"g.48275092C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197731C>T"	""	"pathogenic"	""
"0000704928"	"0"	"95"	"17"	"48275092"	"48275092"	"subst"	"0"	"03894"	"COL1A1_001105"	"g.48275092C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704929"	"0"	"99"	"17"	"48275091"	"48275091"	"subst"	"0"	"00085"	"COL1A1_000372"	"g.48275091A>C"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72645313"	"0"	""	""	"g.50197730A>C"	""	"pathogenic"	""
"0000704930"	"0"	"99"	"17"	"48274596"	"48274596"	"subst"	"0"	"00085"	"COL1A1_000375"	"g.48274596T>C"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs67047254"	"0"	""	""	"g.50197235T>C"	""	"pathogenic"	""
"0000704931"	"0"	"99"	"17"	"48274596"	"48274596"	"subst"	"0"	"00085"	"COL1A1_000375"	"g.48274596T>C"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs67047254"	"0"	""	""	"g.50197235T>C"	""	"pathogenic"	""
"0000704932"	"0"	"99"	"17"	"48274596"	"48274596"	"subst"	"0"	"03855"	"COL1A1_000375"	"g.48274596T>C"	""	""	""	""	""	"Unknown"	""	"rs67047254"	"0"	""	""	"g.50197235T>C"	""	"pathogenic"	""
"0000704933"	"10"	"99"	"17"	"48274596"	"48274596"	"subst"	"0"	"00085"	"COL1A1_000375"	"g.48274596T>C"	""	"{PMID:Zhai et al., 2019:31218168}"	""	""	""	"Unknown"	""	"rs67047254"	"0"	""	""	"g.50197235T>C"	""	"pathogenic"	""
"0000704934"	"0"	"99"	"17"	"48274596"	"48274596"	"subst"	"0"	"00085"	"COL1A1_000373"	"g.48274596T>A"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs67047253"	"0"	""	""	"g.50197235T>A"	""	"pathogenic"	""
"0000704935"	"0"	"99"	"17"	"48274596"	"48274596"	"del"	"0"	"00085"	"COL1A1_000374"	"g.48274596del"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs67047255"	"0"	""	""	"g.50197235del"	""	"pathogenic"	""
"0000704936"	"0"	"99"	"17"	"48274595"	"48274596"	"del"	"0"	"00085"	"COL1A1_000376"	"g.48274595_48274596del"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67163050"	"0"	""	""	"g.50197234_50197235del"	""	"pathogenic"	""
"0000704937"	"0"	"99"	"17"	"48274595"	"48274596"	"del"	"0"	"00085"	"COL1A1_000376"	"g.48274595_48274596del"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	"rs67163050"	"0"	""	""	"g.50197234_50197235del"	""	"pathogenic"	""
"0000704938"	"0"	"99"	"17"	"48274595"	"48274595"	"subst"	"0"	"01819"	"COL1A1_000723"	"g.48274595C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197234C>G"	""	"pathogenic"	""
"0000704939"	"0"	"99"	"17"	"48274595"	"48274595"	"subst"	"0"	"03704"	"COL1A1_000377"	"g.48274595C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67163049"	"0"	""	""	"g.50197234C>A"	""	"pathogenic"	""
"0000704940"	"0"	"99"	"17"	"48274595"	"48274595"	"subst"	"0"	"03853"	"COL1A1_000377"	"g.48274595C>A"	""	""	""	""	""	"Unknown"	""	"rs67163049"	"0"	""	""	"g.50197234C>A"	""	"pathogenic"	""
"0000704941"	"0"	"99"	"17"	"48274594"	"48274594"	"subst"	"0"	"00085"	"COL1A1_001077"	"g.48274594C>G"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197233C>G"	""	"pathogenic"	""
"0000704942"	"21"	"99"	"17"	"48274595"	"48274595"	"del"	"0"	"00085"	"COL1A1_000893"	"g.48274595del"	""	"{PMID:Wang et al., 2015:25983617}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197234del"	""	"pathogenic"	""
"0000704943"	"0"	"99"	"17"	"48274595"	"48274595"	"dup"	"0"	"03879"	"COL1A1_000894"	"g.48274595dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197234dup"	""	"pathogenic"	""
"0000704944"	"0"	"99"	"17"	"48274575"	"48274575"	"subst"	"0"	"03853"	"COL1A1_000015"	"g.48274575C>T"	""	"{PMID:Marini et al., 2007:17078022}"	""	""	""	"Unknown"	""	"rs72645314"	"0"	""	""	"g.50197214C>T"	""	"pathogenic"	""
"0000704945"	"0"	"99"	"17"	"48274566"	"48274566"	"subst"	"0"	"00085"	"COL1A1_000020"	"g.48274566C>T"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72645315"	"0"	""	""	"g.50197205C>T"	""	"pathogenic"	""
"0000704946"	"0"	"95"	"17"	"48274566"	"48274566"	"subst"	"0"	"03894"	"COL1A1_001121"	"g.48274566C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704947"	"0"	"95"	"17"	"48274557"	"48274557"	"subst"	"0"	"03897"	"COL1A1_001312"	"g.48274557C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197196C>T"	""	"VUS"	""
"0000704948"	"0"	"13"	"17"	"48274551"	"48274551"	"subst"	"0.000166493"	"00475"	"COL1A1_000633"	"g.48274551G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197190G>A"	""	"likely benign"	""
"0000704949"	"0"	"99"	"17"	"48274549"	"48274549"	"subst"	"0"	"01819"	"COL1A1_000016"	"g.48274549C>T"	""	"{PMID:Marini et al., 2007:17078022}"	""	""	""	"Unknown"	""	"rs72645316"	"0"	""	""	"g.50197188C>T"	""	"pathogenic"	""
"0000704950"	"0"	"95"	"17"	"48274549"	"48274549"	"subst"	"0"	"03897"	"COL1A1_000016"	"g.48274549C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	"variant incorrectly reported as Gly284Arg"	"Germline/De novo (untested)"	""	"rs72645316"	"0"	""	""	"g.50197188C>T"	""	"VUS"	""
"0000704951"	"0"	"99"	"17"	"48274548"	"48274548"	"subst"	"0"	"03853"	"COL1A1_000542"	"g.48274548C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197187C>T"	""	"pathogenic"	""
"0000704952"	"0"	"79"	"17"	"48274540"	"48274540"	"subst"	"0"	"00475"	"COL1A1_000634"	"g.48274540C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic"	""
"0000704953"	"0"	"99"	"17"	"48274540"	"48274540"	"subst"	"0"	"03870"	"COL1A1_000634"	"g.48274540C>T"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic"	""
"0000704954"	"0"	"99"	"17"	"48274540"	"48274540"	"subst"	"0"	"00085"	"COL1A1_000634"	"g.48274540C>T"	""	"{PMID:Árvai et al., 2016:27335225}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic"	""
"0000704955"	"0"	"99"	"17"	"48274540"	"48274540"	"subst"	"0"	"03894"	"COL1A1_000634"	"g.48274540C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic"	""
"0000704956"	"0"	"99"	"17"	"48274540"	"48274540"	"subst"	"0"	"03894"	"COL1A1_000634"	"g.48274540C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic"	""
"0000704957"	"0"	"95"	"17"	"48274540"	"48274540"	"subst"	"0"	"03894"	"COL1A1_000634"	"g.48274540C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000704958"	"0"	"99"	"17"	"48274540"	"48274540"	"subst"	"0"	"00085"	"COL1A1_000826"	"g.48274540C>A"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197179C>A"	""	"pathogenic"	""
"0000704959"	"21"	"99"	"17"	"48274539"	"48274539"	"subst"	"0"	"00085"	"COL1A1_001036"	"g.48274539A>T"	""	"{PMID:Seto et al., 2017:28326186}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197178A>T"	""	"pathogenic"	""
"0000704960"	"0"	"99"	"17"	"48274539"	"48274539"	"subst"	"0"	"03897"	"COL1A1_001036"	"g.48274539A>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197178A>T"	""	"pathogenic"	""
"0000704961"	"0"	"99"	"17"	"48274421"	"48274428"	"del"	"0"	"03870"	"COL1A1_001006"	"g.48274421_48274428del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197060_50197067del"	""	"pathogenic"	""
"0000704962"	"0"	"99"	"17"	"48274425"	"48274425"	"subst"	"0"	"03870"	"COL1A1_001005"	"g.48274425C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197064C>G"	""	"pathogenic"	""
"0000704963"	"0"	"99"	"17"	"48272407"	"48274425"	"del"	"0"	"03855"	"COL1A1_000626"	"g.(48272190_48272407)_(48274425_48274540)del"	""	""	""	"751-?_1353+?del"	""	"Unknown"	""	""	"0"	""	""	"g.(50194829_50195046)_(50197064_50197179)del"	""	"pathogenic"	""
"0000704964"	"0"	"99"	"17"	"48274424"	"48274424"	"subst"	"0"	"00085"	"COL1A1_000815"	"g.48274424C>G"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197063C>G"	""	"pathogenic"	""
"0000704965"	"0"	"99"	"17"	"48274424"	"48274424"	"subst"	"0"	"01819"	"COL1A1_000017"	"g.48274424C>A"	""	"{PMID:Marini et al., 2007:17078022}"	""	""	""	"Unknown"	""	"rs72645317"	"0"	""	""	"g.50197063C>A"	""	"pathogenic"	""
"0000704966"	"0"	"99"	"17"	"48274423"	"48274423"	"subst"	"0"	"03879"	"COL1A1_000852"	"g.48274423C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197062C>T"	""	"pathogenic"	""
"0000704967"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03704"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704968"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"00085"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704969"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03870"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704970"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03856"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704971"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03870"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704972"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03879"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704973"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"00085"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Mauri et al., 2016:27484908}"	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704974"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03870"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704975"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03870"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704976"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03870"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704977"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"03870"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic"	""
"0000704978"	"0"	"99"	"17"	"48274418"	"48274418"	"subst"	"0"	"00085"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72645318"	"0"	""	""	""	""	"VUS"	""
"0000704979"	"0"	"95"	"17"	"48274418"	"48274418"	"subst"	"0"	"03897"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"VUS"	""
"0000704980"	"0"	"99"	"17"	"48274415"	"48274415"	"subst"	"0"	"00085"	"COL1A1_000018"	"g.48274415C>T"	""	"{PMID:Marini et al., 2007:17078022} (Mottes, personal communication)"	""	""	""	"Unknown"	""	"rs72645319"	"0"	""	""	"g.50197054C>T"	""	"pathogenic"	""
"0000704981"	"0"	"99"	"17"	"48274414"	"48274414"	"subst"	"0"	"00085"	"COL1A1_000019"	"g.48274414C>T"	""	"{PMID:Cabral et al., 2001:11286507}"	""	""	""	"Unknown"	""	"rs72645320"	"0"	""	""	"g.50197053C>T"	""	"pathogenic"	""
"0000704982"	"0"	"99"	"17"	"48274414"	"48274414"	"subst"	"0"	"00085"	"COL1A1_000019"	"g.48274414C>T"	""	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	"Unknown"	""	"rs72645320"	"0"	""	""	"g.50197053C>T"	""	"pathogenic"	""
"0000704983"	"11"	"99"	"17"	"48274409"	"48274409"	"dup"	"0"	"03872"	"COL1A1_000812"	"g.48274409dup"	""	"{PMID:Wang et al., 2015:26307460}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197048dup"	""	"pathogenic"	""
"0000704984"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Gat-Yablonski et al., 1997:9385363}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704985"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704986"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704987"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704988"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Redford-Badwal et al., 1996:8613526}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704989"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03704"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704990"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704991"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704992"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03704"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704993"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03704"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704994"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03704"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704995"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03704"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704996"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704997"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704998"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000704999"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705000"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705001"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03855"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705002"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03855"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705003"	"0"	"79"	"17"	"48274406"	"48274406"	"subst"	"0"	"00475"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705004"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00475"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705005"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705006"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705007"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705008"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705009"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705010"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"01819"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705011"	"0"	"59"	"17"	"48274406"	"48274406"	"subst"	"0"	"01819"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705012"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705013"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Lin et al., 2014:24486247}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705014"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Zhang 2015:26377240}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705015"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705016"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705017"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705018"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705019"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03870"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705020"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Uehara et al., 2017:28626166}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705021"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03894"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	""	""	"VUS"	""
"0000705022"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03894"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	""	""	"pathogenic"	""
"0000705023"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	""	""	"pathogenic"	""
"0000705024"	"0"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"00085"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72645321"	"0"	""	""	""	""	"VUS"	""
"0000705025"	"20"	"99"	"17"	"48274406"	"48274406"	"subst"	"0"	"03897"	"COL1A1_000022"	"g.48274406C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs72645321"	"0"	""	""	"g.50197045C>T"	""	"pathogenic"	""
"0000705026"	"0"	"95"	"17"	"48274405"	"48274405"	"subst"	"0"	"03894"	"COL1A1_001117"	"g.48274405C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705027"	"0"	"99"	"17"	"48274400"	"48274400"	"del"	"0"	"03704"	"COL1A1_000296"	"g.48274400del"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	"rs72645322"	"0"	""	""	"g.50197039del"	""	"pathogenic"	""
"0000705028"	"0"	"99"	"17"	"48274396"	"48274396"	"subst"	"0"	"03885"	"COL1A1_000947"	"g.48274396C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197035C>T"	""	"pathogenic"	""
"0000705029"	"0"	"99"	"17"	"48274388"	"48274388"	"subst"	"0"	"00085"	"COL1A1_000023"	"g.48274388C>T"	""	"{PMID:Deak et al., 1991:1718984}"	""	""	""	"Unknown"	""	"rs72645323"	"0"	""	""	"g.50197027C>T"	""	"pathogenic"	""
"0000705030"	"0"	"99"	"17"	"48274387"	"48274387"	"subst"	"0"	"03853"	"COL1A1_000652"	"g.48274387C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197026C>T"	""	"pathogenic"	""
"0000705031"	"0"	"99"	"17"	"48274387"	"48274387"	"subst"	"0"	"00085"	"COL1A1_000024"	"g.48274387C>A"	""	"{PMID:Valli et al., 1993:8223589}"	""	""	""	"Unknown"	""	"rs72645324"	"0"	""	""	"g.50197026C>A"	""	"pathogenic"	""
"0000705032"	"0"	"59"	"17"	"48274387"	"48274387"	"subst"	"0"	"00475"	"COL1A1_000024"	"g.48274387C>A"	""	""	""	""	""	"Unknown"	""	"rs72645324"	"0"	""	""	"g.50197026C>A"	""	"pathogenic"	""
"0000705033"	"11"	"99"	"17"	"48274385"	"48274385"	"subst"	"8.12176E-6"	"00085"	"COL1A1_000940"	"g.48274385T>A"	""	"{PMID:Mauri et al., 2016:27484908}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197024T>A"	""	"pathogenic"	""
"0000705034"	"0"	"99"	"17"	"48274379"	"48274379"	"subst"	"0"	"00085"	"COL1A1_000936"	"g.48274379C>T"	""	"{PMID:Zarate et al., 2016:27090748}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197018C>T"	""	"pathogenic"	""
"0000705035"	"0"	"99"	"17"	"48274378"	"48274378"	"subst"	"0"	"00085"	"COL1A1_000025"	"g.48274378C>T"	""	"{PMID:Cabral et al., 2005:15728585}"	""	""	""	"Unknown"	""	"rs72645325"	"0"	""	""	"g.50197017C>T"	""	"pathogenic"	""
"0000705036"	"0"	"99"	"17"	"48274378"	"48274378"	"subst"	"0"	"00085"	"COL1A1_000025"	"g.48274378C>T"	""	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	"Unknown"	""	"rs72645325"	"0"	""	""	"g.50197017C>T"	""	"pathogenic"	""
"0000705037"	"0"	"99"	"17"	"48274378"	"48274378"	"subst"	"0"	"03704"	"COL1A1_000025"	"g.48274378C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	"rs72645325"	"0"	""	""	"g.50197017C>T"	""	"pathogenic"	""
"0000705038"	"10"	"99"	"17"	"48274373"	"48274373"	"del"	"0"	"03879"	"COL1A1_000871"	"g.48274373del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197012del"	""	"pathogenic"	""
"0000705039"	"11"	"99"	"17"	"48274373"	"48274373"	"del"	"0"	"03879"	"COL1A1_000871"	"g.48274373del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197012del"	""	"pathogenic"	""
"0000705040"	"0"	"99"	"17"	"48274370"	"48274370"	"subst"	"0"	"01819"	"COL1A1_000724"	"g.48274370C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197009C>T"	""	"pathogenic"	""
"0000705041"	"20"	"95"	"17"	"48274370"	"48274370"	"subst"	"0"	"03897"	"COL1A1_000724"	"g.48274370C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197009C>T"	""	"VUS"	""
"0000705042"	"0"	"99"	"17"	"48274369"	"48274370"	"del"	"0"	"00085"	"COL1A1_000737"	"g.48274369_48274370del"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50197008_50197009del"	""	"pathogenic"	""
"0000705043"	"0"	"99"	"17"	"48274369"	"48274372"	"del"	"0"	"00085"	"COL1A1_000378"	"g.48274369_48274372del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72645326"	"0"	""	""	"g.50197008_50197011del"	""	"pathogenic"	""
"0000705044"	"0"	"99"	"17"	"48274369"	"48274372"	"del"	"0"	"00085"	"COL1A1_000378"	"g.48274369_48274372del"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs72645326"	"0"	""	""	"g.50197008_50197011del"	""	"pathogenic"	""
"0000705045"	"0"	"99"	"17"	"48274369"	"48274372"	"del"	"0"	"03870"	"COL1A1_000378"	"g.48274369_48274372del"	""	""	""	""	""	"Unknown"	""	"rs72645326"	"0"	""	""	"g.50197008_50197011del"	""	"pathogenic"	""
"0000705046"	"0"	"99"	"17"	"48274366"	"48274366"	"subst"	"0"	"00085"	"COL1A1_000379"	"g.48274366C>G"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645327"	"0"	""	""	"g.50197005C>G"	""	"pathogenic"	""
"0000705047"	"0"	"99"	"17"	"48274031"	"48274031"	"subst"	"0"	"00085"	"COL1A1_000026"	"g.48274031C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72645328"	"0"	""	""	"g.50196670C>T"	""	"pathogenic"	""
"0000705048"	"0"	"99"	"17"	"48274030"	"48274030"	"subst"	"0"	"00085"	"COL1A1_000027"	"g.48274030C>A"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72645329"	"0"	""	""	"g.50196669C>A"	""	"pathogenic"	""
"0000705049"	"0"	"99"	"17"	"48274029"	"48274029"	"del"	"0"	"00085"	"COL1A1_000297"	"g.48274029del"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72645330"	"0"	""	""	"g.50196668del"	""	"pathogenic"	""
"0000705050"	"0"	"99"	"17"	"48274029"	"48274029"	"dup"	"0"	"03870"	"COL1A1_000683"	"g.48274029dup"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196668dup"	""	"pathogenic"	""
"0000705051"	"0"	"99"	"17"	"48274029"	"48274029"	"dup"	"0"	"03870"	"COL1A1_000683"	"g.48274029dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196668dup"	""	"pathogenic"	""
"0000705052"	"0"	"99"	"17"	"48274029"	"48274029"	"dup"	"0"	"03870"	"COL1A1_000683"	"g.48274029dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196668dup"	""	"pathogenic"	""
"0000705053"	"0"	"99"	"17"	"48274029"	"48274029"	"dup"	"0"	"03870"	"COL1A1_000683"	"g.48274029dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196668dup"	""	"pathogenic"	""
"0000705054"	"0"	"95"	"17"	"48274022"	"48274022"	"subst"	"0"	"03894"	"COL1A1_001149"	"g.48274022C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705055"	"0"	"99"	"17"	"48274022"	"48274022"	"subst"	"0"	"03704"	"COL1A1_000028"	"g.48274022C>A"	""	"{PMID:Starman et al., 1989:2794057}"	""	""	""	"Unknown"	""	"rs72645331"	"0"	""	""	"g.50196661C>A"	""	"pathogenic"	""
"0000705056"	"0"	"99"	"17"	"48274022"	"48274022"	"subst"	"0"	"03704"	"COL1A1_000028"	"g.48274022C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645331"	"0"	""	""	"g.50196661C>A"	""	"pathogenic"	""
"0000705057"	"0"	"99"	"17"	"48274022"	"48274022"	"subst"	"0"	"03704"	"COL1A1_000028"	"g.48274022C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645331"	"0"	""	""	"g.50196661C>A"	""	"pathogenic"	""
"0000705058"	"0"	"99"	"17"	"48274022"	"48274022"	"subst"	"0"	"03855"	"COL1A1_000028"	"g.48274022C>A"	""	""	""	""	""	"Unknown"	""	"rs72645331"	"0"	""	""	"g.50196661C>A"	""	"pathogenic"	""
"0000705059"	"0"	"99"	"17"	"48274013"	"48274013"	"subst"	"0"	"03853"	"COL1A1_000653"	"g.48274013C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196652C>T"	""	"pathogenic"	""
"0000705060"	"0"	"99"	"17"	"48274013"	"48274013"	"subst"	"0"	"03894"	"COL1A1_000653"	"g.48274013C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196652C>T"	""	"pathogenic"	""
"0000705061"	"0"	"99"	"17"	"48274013"	"48274013"	"subst"	"0"	"03704"	"COL1A1_000029"	"g.48274013C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645332"	"0"	""	""	"g.50196652C>G"	""	"pathogenic"	""
"0000705062"	"0"	"99"	"17"	"48274012"	"48274012"	"subst"	"0"	"00085"	"COL1A1_000030"	"g.48274012C>T"	""	"{PMID:Lightfoot et al., 1992:1460046}"	""	""	""	"Unknown"	""	"rs72645333"	"0"	""	""	"g.50196651C>T"	""	"pathogenic"	""
"0000705063"	"0"	"99"	"17"	"48274003"	"48274003"	"subst"	"0"	"03855"	"COL1A1_000584"	"g.48274003C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196642C>T"	""	"pathogenic"	""
"0000705064"	"0"	"99"	"17"	"48274000"	"48274000"	"dup"	"0"	"03880"	"COL1A1_000895"	"g.48274000dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196639dup"	""	"pathogenic"	""
"0000705065"	"0"	"99"	"17"	"48273995"	"48273995"	"subst"	"0"	"00085"	"COL1A1_000031"	"g.48273995C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645334"	"0"	""	""	"g.50196634C>T"	""	"pathogenic"	""
"0000705066"	"0"	"99"	"17"	"48273995"	"48273995"	"subst"	"0"	"03879"	"COL1A1_000031"	"g.48273995C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645334"	"0"	""	""	"g.50196634C>T"	""	"pathogenic"	""
"0000705067"	"0"	"99"	"17"	"48273994"	"48273994"	"subst"	"0"	"00085"	"COL1A1_000032"	"g.48273994C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs72645335"	"0"	""	""	"g.50196633C>T"	""	"pathogenic"	""
"0000705068"	"0"	"99"	"17"	"48273986"	"48273986"	"subst"	"0"	"03704"	"COL1A1_000033"	"g.48273986C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645336"	"0"	""	""	"g.50196625C>T"	""	"pathogenic"	""
"0000705069"	"0"	"99"	"17"	"48273985"	"48273985"	"subst"	"0"	"03704"	"COL1A1_000034"	"g.48273985C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645337"	"0"	""	""	"g.50196624C>G"	""	"pathogenic"	""
"0000705070"	"20"	"99"	"17"	"48273985"	"48273985"	"subst"	"0"	"03879"	"COL1A1_000034"	"g.48273985C>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645337"	"0"	""	""	"g.50196624C>G"	""	"pathogenic"	""
"0000705071"	"11"	"99"	"17"	"48273985"	"48273985"	"subst"	"0"	"03879"	"COL1A1_000034"	"g.48273985C>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645337"	"0"	""	""	"g.50196624C>G"	""	"pathogenic"	""
"0000705072"	"20"	"99"	"17"	"48273985"	"48273985"	"subst"	"0"	"03879"	"COL1A1_000034"	"g.48273985C>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645337"	"0"	""	""	"g.50196624C>G"	""	"pathogenic"	""
"0000705073"	"0"	"99"	"17"	"48273977"	"48273977"	"subst"	"0"	"00085"	"COL1A1_000381"	"g.48273977C>T"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs67569268"	"0"	""	""	"g.50196616C>T"	""	"pathogenic"	""
"0000705074"	"0"	"99"	"17"	"48273977"	"48273977"	"subst"	"0"	"01819"	"COL1A1_000381"	"g.48273977C>T"	""	""	""	""	""	"Unknown"	""	"rs67569268"	"0"	""	""	"g.50196616C>T"	""	"pathogenic"	""
"0000705075"	"0"	"95"	"17"	"48273977"	"48273977"	"subst"	"0"	"03894"	"COL1A1_000381"	"g.48273977C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67569268"	"0"	""	""	""	""	"VUS"	""
"0000705076"	"0"	"95"	"17"	"48273977"	"48273977"	"subst"	"0"	"03897"	"COL1A1_000381"	"g.48273977C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs67569268"	"0"	""	""	"g.50196616C>T"	""	"VUS"	""
"0000705077"	"0"	"95"	"17"	"48273977"	"48273977"	"subst"	"0"	"03897"	"COL1A1_000381"	"g.48273977C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs67569268"	"0"	""	""	"g.50196616C>T"	""	"VUS"	""
"0000705078"	"0"	"99"	"17"	"48273977"	"48273977"	"subst"	"0"	"00085"	"COL1A1_000380"	"g.48273977C>A"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs67569269"	"0"	""	""	"g.50196616C>A"	""	"pathogenic"	""
"0000705079"	"0"	"99"	"17"	"48273977"	"48273981"	"del"	"0"	"00085"	"COL1A1_000693"	"g.48273977_48273981del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196616_50196620del"	""	"pathogenic"	""
"0000705080"	"0"	"91"	"17"	"48273954"	"48273954"	"subst"	"0.000182725"	"00085"	"COL1A1_000913"	"g.48273954C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196593C>T"	""	"VUS"	""
"0000705081"	"0"	"99"	"17"	"48273891"	"48273891"	"subst"	"0"	"00085"	"COL1A1_000383"	"g.48273891T>G"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72645338"	"0"	""	""	"g.50196530T>G"	""	"pathogenic"	""
"0000705082"	"0"	"99"	"17"	"48273891"	"48273891"	"subst"	"0"	"00085"	"COL1A1_000383"	"g.48273891T>G"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72645338"	"0"	""	""	"g.50196530T>G"	""	"pathogenic"	""
"0000705083"	"0"	"99"	"17"	"48273891"	"48273891"	"subst"	"0"	"01819"	"COL1A1_000725"	"g.48273891T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196530T>C"	""	"pathogenic"	""
"0000705084"	"0"	"99"	"17"	"48273890"	"48273890"	"subst"	"0"	"00085"	"COL1A1_000382"	"g.48273890C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645339"	"0"	""	""	"g.50196529C>T"	""	"pathogenic"	""
"0000705085"	"0"	"99"	"17"	"48273890"	"48273890"	"subst"	"0"	"00085"	"COL1A1_000382"	"g.48273890C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645339"	"0"	""	""	"g.50196529C>T"	""	"pathogenic"	""
"0000705086"	"0"	"99"	"17"	"48273889"	"48273889"	"subst"	"0"	"00085"	"COL1A1_000055"	"g.48273889C>T"	""	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	"Unknown"	""	"rs72645340"	"0"	""	""	"g.50196528C>T"	""	"pathogenic"	""
"0000705087"	"0"	"99"	"17"	"48273889"	"48273889"	"subst"	"0"	"01819"	"COL1A1_000055"	"g.48273889C>T"	""	""	""	""	""	"Unknown"	""	"rs72645340"	"0"	""	""	"g.50196528C>T"	""	"pathogenic"	""
"0000705088"	"0"	"99"	"17"	"48273889"	"48273889"	"subst"	"0"	"00085"	"COL1A1_000055"	"g.48273889C>T"	""	"{PMID:Adur et al., 2013:23869235}"	""	""	""	"Unknown"	""	"rs72645340"	"0"	""	""	"g.50196528C>T"	""	"pathogenic"	""
"0000705089"	"0"	"99"	"17"	"48273888"	"48273888"	"subst"	"0"	"00085"	"COL1A1_000839"	"g.48273888C>A"	""	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196527C>A"	""	"pathogenic"	""
"0000705090"	"0"	"55"	"17"	"48273886"	"48273886"	"subst"	"2.03064E-5"	"00085"	"COL1A1_000111"	"g.48273886C>T"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72645341"	"0"	""	""	"g.50196525C>T"	""	"VUS"	""
"0000705091"	"0"	"55"	"17"	"48273885"	"48273885"	"subst"	"0"	"03704"	"COL1A1_000486"	"g.48273885T>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72653145"	"0"	""	""	"g.50196524T>A"	""	"VUS"	""
"0000705092"	"0"	"99"	"17"	"48273878"	"48273879"	"delins"	"0"	"00085"	"COL1A1_000930"	"g.48273878_48273879delinsTT"	""	"{PMID:Kaneto et al., 2014:24767406}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196517_50196518delinsTT"	""	"pathogenic"	""
"0000705093"	"0"	"99"	"17"	"48273870"	"48273870"	"subst"	"0"	"00085"	"COL1A1_000914"	"g.48273870C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196509C>T"	""	"pathogenic"	""
"0000705094"	"0"	"99"	"17"	"48273870"	"48273870"	"subst"	"0"	"03870"	"COL1A1_000677"	"g.48273870C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196509C>A"	""	"pathogenic"	""
"0000705095"	"0"	"99"	"17"	"48273861"	"48273861"	"subst"	"0"	"00085"	"COL1A1_001288"	"g.48273861C>A"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196500C>A"	""	"pathogenic"	""
"0000705096"	"0"	"99"	"17"	"48273853"	"48273853"	"subst"	"0"	"00085"	"COL1A1_000035"	"g.48273853C>G"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72645342"	"0"	""	""	"g.50196492C>G"	""	"pathogenic"	""
"0000705097"	"0"	"95"	"17"	"48273853"	"48273853"	"subst"	"0"	"03894"	"COL1A1_000035"	"g.48273853C>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72645342"	"0"	""	""	""	""	"VUS"	""
"0000705098"	"0"	"99"	"17"	"48273852"	"48273852"	"subst"	"0"	"00085"	"COL1A1_000036"	"g.48273852C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72645343"	"0"	""	""	"g.50196491C>T"	""	"pathogenic"	""
"0000705099"	"0"	"99"	"17"	"48273852"	"48273852"	"subst"	"0"	"01819"	"COL1A1_000036"	"g.48273852C>T"	""	""	""	""	""	"Unknown"	""	"rs72645343"	"0"	""	""	"g.50196491C>T"	""	"pathogenic"	""
"0000705100"	"0"	"99"	"17"	"48273850"	"48273850"	"subst"	"0"	"00085"	"COL1A1_001255"	"g.48273850G>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705101"	"0"	"99"	"17"	"48273844"	"48273844"	"subst"	"4.06128E-6"	"03855"	"COL1A1_000625"	"g.48273844C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196483C>T"	""	"pathogenic"	""
"0000705102"	"0"	"99"	"17"	"48273844"	"48273844"	"subst"	"4.06128E-6"	"00085"	"COL1A1_000625"	"g.48273844C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705103"	"0"	"95"	"17"	"48273743"	"48273743"	"subst"	"0"	"03894"	"COL1A1_001102"	"g.48273743A>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"effect on splicing predicted from mini gene splicing assay"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705104"	"0"	"99"	"17"	"48273738"	"48273738"	"subst"	"0"	"00085"	"COL1A1_000384"	"g.48273738A>T"	""	"{PMID:Schafer et al., 2004:15046069}"	""	""	""	"Unknown"	""	"rs72645344"	"0"	""	""	"g.50196377A>T"	""	"pathogenic"	""
"0000705105"	"0"	"99"	"17"	"48273738"	"48273738"	"subst"	"0"	"03894"	"COL1A1_000384"	"g.48273738A>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"effect on splicing predicted from mini gene splicing assay"	"Unknown"	""	"rs72645344"	"0"	""	""	"g.50196377A>T"	""	"pathogenic"	""
"0000705106"	"0"	"99"	"17"	"48273737"	"48273737"	"subst"	"0"	"03885"	"COL1A1_000948"	"g.48273737C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196376C>T"	""	"pathogenic"	""
"0000705107"	"0"	"99"	"17"	"48273737"	"48273737"	"subst"	"0"	"03897"	"COL1A1_000948"	"g.48273737C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50196376C>T"	""	"pathogenic"	""
"0000705108"	"20"	"95"	"17"	"48273737"	"48273737"	"subst"	"0"	"03897"	"COL1A1_000948"	"g.48273737C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196376C>T"	""	"VUS"	""
"0000705109"	"0"	"93"	"17"	"48273737"	"48273737"	"subst"	"0.00754999"	"00085"	"COL1A1_001198"	"g.48273737C>A"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705110"	"0"	"95"	"17"	"48273722"	"48273722"	"dup"	"0"	"03894"	"COL1A1_001098"	"g.48273722dup"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705111"	"0"	"99"	"17"	"48273719"	"48273719"	"subst"	"0"	"00085"	"COL1A1_000037"	"g.48273719C>T"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs68062484"	"0"	""	""	"g.50196358C>T"	""	"pathogenic"	""
"0000705112"	"0"	"99"	"17"	"48273719"	"48273719"	"subst"	"0"	"03870"	"COL1A1_000037"	"g.48273719C>T"	""	""	""	""	""	"Unknown"	""	"rs68062484"	"0"	""	""	"g.50196358C>T"	""	"pathogenic"	""
"0000705113"	"0"	"99"	"17"	"48273719"	"48273719"	"subst"	"0"	"03865"	"COL1A1_000037"	"g.48273719C>T"	""	""	""	""	""	"Unknown"	""	"rs68062484"	"0"	""	""	"g.50196358C>T"	""	"pathogenic"	""
"0000705114"	"0"	"99"	"17"	"48273719"	"48273719"	"subst"	"0"	"00085"	"COL1A1_000038"	"g.48273719C>G"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs68062485"	"0"	""	""	"g.50196358C>G"	""	"pathogenic"	""
"0000705115"	"0"	"99"	"17"	"48273719"	"48273719"	"subst"	"0"	"00085"	"COL1A1_000038"	"g.48273719C>G"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs68062485"	"0"	""	""	"g.50196358C>G"	""	"pathogenic"	""
"0000705116"	"0"	"95"	"17"	"48273709"	"48273709"	"subst"	"0"	"03894"	"COL1A1_001108"	"g.48273709C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705117"	"0"	"99"	"17"	"48273701"	"48273701"	"subst"	"0"	"00085"	"COL1A1_000039"	"g.48273701C>G"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72645345"	"0"	""	""	"g.50196340C>G"	""	"pathogenic"	""
"0000705118"	"0"	"79"	"17"	"48273701"	"48273701"	"subst"	"0"	"00475"	"COL1A1_000039"	"g.48273701C>G"	""	""	""	""	""	"Unknown"	""	"rs72645345"	"0"	""	""	"g.50196340C>G"	""	"pathogenic"	""
"0000705119"	"0"	"99"	"17"	"48273700"	"48273700"	"subst"	"0"	"03704"	"COL1A1_000040"	"g.48273700C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645346"	"0"	""	""	"g.50196339C>T"	""	"pathogenic"	""
"0000705120"	"0"	"99"	"17"	"48273700"	"48273700"	"subst"	"0"	"03704"	"COL1A1_000040"	"g.48273700C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645346"	"0"	""	""	"g.50196339C>T"	""	"pathogenic"	""
"0000705121"	"0"	"99"	"17"	"48273700"	"48273700"	"subst"	"0"	"00085"	"COL1A1_001057"	"g.48273700C>A"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196339C>A"	""	"pathogenic"	""
"0000705122"	"0"	"99"	"17"	"48273698"	"48273698"	"subst"	"0"	"00085"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Nuytinck et al., 2000:10739762}"	""	""	""	"Unknown"	""	"rs72645347"	"0"	""	""	"g.50196337G>A"	""	"pathogenic"	""
"0000705123"	"0"	"99"	"17"	"48273698"	"48273698"	"subst"	"0"	"00085"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Nuytinck et al., 2000:10739762}"	""	""	""	"Unknown"	""	"rs72645347"	"0"	""	""	"g.50196337G>A"	""	"pathogenic"	""
"0000705124"	"0"	"99"	"17"	"48273698"	"48273698"	"subst"	"0"	"00085"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Malfait et al., 2007:17211858}"	""	""	""	"Unknown"	""	"rs72645347"	"0"	""	""	"g.50196337G>A"	""	"pathogenic"	""
"0000705125"	"0"	"99"	"17"	"48273698"	"48273698"	"subst"	"0"	"03702"	"COL1A1_000043"	"g.48273698G>A"	""	""	""	""	""	"Unknown"	""	"rs72645347"	"0"	""	""	"g.50196337G>A"	""	"pathogenic"	""
"0000705126"	"0"	"99"	"17"	"48273698"	"48273698"	"subst"	"0"	"00085"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Gaines et al., 2015:25597651}"	""	""	""	"Unknown"	""	"rs72645347"	"0"	""	""	"g.50196337G>A"	""	"pathogenic"	""
"0000705127"	"21"	"99"	"17"	"48273698"	"48273698"	"subst"	"0"	"03883"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Colombi et al., 2017:28102596}"	""	""	""	"Unknown"	""	"rs72645347"	"0"	""	""	"g.50196337G>A"	""	"pathogenic"	""
"0000705128"	"10"	"99"	"17"	"48273698"	"48273698"	"subst"	"0"	"03883"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Ritelli et al., 2013:23587214}"	""	""	""	"Unknown"	""	"rs72645347"	"0"	""	""	"g.50196337G>A"	""	"pathogenic"	""
"0000705129"	"0"	"99"	"17"	"48273692"	"48273692"	"subst"	"0"	"00085"	"COL1A1_000041"	"g.48273692C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72645348"	"0"	""	""	"g.50196331C>T"	""	"pathogenic"	""
"0000705130"	"0"	"95"	"17"	"48273684"	"48273684"	"del"	"0"	"03894"	"COL1A1_001132"	"g.48273684del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705131"	"0"	"99"	"17"	"48273683"	"48273683"	"subst"	"0"	"00085"	"COL1A1_001058"	"g.48273683C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196322C>T"	""	"pathogenic"	""
"0000705132"	"0"	"99"	"17"	"48273681"	"48273681"	"del"	"0"	"03870"	"COL1A1_001007"	"g.48273681del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196320del"	""	"pathogenic"	""
"0000705133"	"0"	"99"	"17"	"48272960"	"48273688"	"dup"	"0"	"03704"	"COL1A1_000364"	"g.48272960_48273688dup"	""	"{PMID:Cohn et al., 1993:8097422}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195599_50196327dup"	""	"pathogenic"	""
"0000705134"	"0"	"99"	"17"	"48273670"	"48273670"	"subst"	"0"	"00085"	"COL1A1_000386"	"g.48273670C>T"	""	"{PMID:Bonadio et al., 1990:2298750}"	""	""	""	"Unknown"	""	"rs72645350"	"0"	""	""	"g.50196309C>T"	""	"pathogenic"	""
"0000705135"	"0"	"99"	"17"	"48273670"	"48273670"	"subst"	"0"	"03704"	"COL1A1_000386"	"g.48273670C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72645350"	"0"	""	""	"g.50196309C>T"	""	"pathogenic"	""
"0000705136"	"0"	"99"	"17"	"48273576"	"48273579"	"del"	"0"	"03704"	"COL1A1_000387"	"g.48273576_48273579del"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645351"	"0"	""	""	"g.50196215_50196218del"	""	"pathogenic"	""
"0000705137"	"0"	"99"	"17"	"48273561"	"48273561"	"del"	"0"	"03872"	"COL1A1_000841"	"g.48273561del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196200del"	""	"pathogenic"	""
"0000705138"	"0"	"99"	"17"	"48273559"	"48273559"	"subst"	"0"	"03885"	"COL1A1_000949"	"g.48273559C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196198C>T"	""	"pathogenic"	""
"0000705139"	"0"	"99"	"17"	"48273559"	"48273559"	"subst"	"0"	"00085"	"COL1A1_000949"	"g.48273559C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196198C>T"	""	"pathogenic"	""
"0000705140"	"0"	"99"	"17"	"48273559"	"48273559"	"subst"	"0"	"00085"	"COL1A1_000254"	"g.48273559C>A"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72645353"	"0"	""	""	"g.50196198C>A"	""	"pathogenic"	""
"0000705141"	"0"	"99"	"17"	"48273559"	"48273559"	"subst"	"0"	"03855"	"COL1A1_000254"	"g.48273559C>A"	""	""	""	""	""	"Unknown"	""	"rs72645353"	"0"	""	""	"g.50196198C>A"	""	"pathogenic"	""
"0000705142"	"0"	"99"	"17"	"48273559"	"48273559"	"subst"	"0"	"00475"	"COL1A1_000254"	"g.48273559C>A"	""	""	""	""	""	"Unknown"	""	"rs72645353"	"0"	""	""	"g.50196198C>A"	""	"pathogenic"	""
"0000705143"	"0"	"99"	"17"	"48273551"	"48273551"	"subst"	"0"	"00085"	"COL1A1_000888"	"g.48273551C>T"	""	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196190C>T"	""	"pathogenic"	""
"0000705144"	"0"	"99"	"17"	"48273551"	"48273551"	"subst"	"0"	"03894"	"COL1A1_000888"	"g.48273551C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196190C>T"	""	"pathogenic"	""
"0000705145"	"0"	"95"	"17"	"48273551"	"48273551"	"subst"	"0"	"03894"	"COL1A1_000888"	"g.48273551C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705146"	"21"	"99"	"17"	"48273551"	"48273551"	"subst"	"0"	"03862"	"COL1A1_000670"	"g.48273551C>A"	""	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196190C>A"	""	"pathogenic"	""
"0000705147"	"0"	"99"	"17"	"48273550"	"48273550"	"subst"	"0"	"03704"	"COL1A1_000042"	"g.48273550C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645354"	"0"	""	""	"g.50196189C>T"	""	"pathogenic"	""
"0000705148"	"0"	"99"	"17"	"48273540"	"48273546"	"dup"	"0"	"03879"	"COL1A1_000878"	"g.48273540_48273546dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196179_50196185dup"	""	"pathogenic"	""
"0000705149"	"0"	"99"	"17"	"48273542"	"48273542"	"subst"	"0"	"03704"	"COL1A1_000044"	"g.48273542C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645355"	"0"	""	""	"g.50196181C>T"	""	"pathogenic"	""
"0000705150"	"0"	"99"	"17"	"48273542"	"48273542"	"subst"	"0"	"00085"	"COL1A1_000044"	"g.48273542C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72645355"	"0"	""	""	"g.50196181C>T"	""	"pathogenic"	""
"0000705151"	"0"	"79"	"17"	"48273542"	"48273542"	"subst"	"0"	"03891"	"COL1A1_001157"	"g.48273542C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705152"	"11"	"79"	"17"	"48273542"	"48273542"	"subst"	"0"	"03891"	"COL1A1_001157"	"g.48273542C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705153"	"0"	"99"	"17"	"48273541"	"48273541"	"subst"	"0"	"00085"	"COL1A1_000045"	"g.48273541C>T"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs72645356"	"0"	""	""	"g.50196180C>T"	""	"pathogenic"	""
"0000705154"	"0"	"99"	"17"	"48273541"	"48273541"	"subst"	"0"	"00085"	"COL1A1_000045"	"g.48273541C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	"Unknown"	""	"rs72645356"	"0"	""	""	"g.50196180C>T"	""	"pathogenic"	""
"0000705155"	"20"	"99"	"17"	"48273541"	"48273541"	"subst"	"0"	"03879"	"COL1A1_000045"	"g.48273541C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645356"	"0"	""	""	"g.50196180C>T"	""	"pathogenic"	""
"0000705156"	"0"	"99"	"17"	"48273541"	"48273541"	"subst"	"0"	"00085"	"COL1A1_000045"	"g.48273541C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs72645356"	"0"	""	""	"g.50196180C>T"	""	"pathogenic"	""
"0000705157"	"0"	"99"	"17"	"48273535"	"48273536"	"dup"	"0"	"00085"	"COL1A1_000827"	"g.48273535_48273536dup"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196174_50196175dup"	""	"pathogenic"	""
"0000705158"	"0"	"99"	"17"	"48273534"	"48273535"	"dup"	"0"	"03853"	"COL1A1_000577"	"g.48273534_48273535dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196173_50196174dup"	""	"pathogenic"	""
"0000705159"	"0"	"99"	"17"	"48273530"	"48273535"	"del"	"0"	"03853"	"COL1A1_000517"	"g.48273530_48273535del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196169_50196174del"	""	"pathogenic"	""
"0000705160"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03704"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Pruchno et al., 1991:2037280}"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705161"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03704"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Pruchno et al., 1991:2037280}"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705162"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"00085"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Zhuang et al., 1996:8669434}"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705163"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03704"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705164"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03704"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705165"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03704"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705166"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"00085"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705167"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"00085"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705168"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03855"	"COL1A1_000046"	"g.48273524C>T"	""	""	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705169"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03879"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705170"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03879"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705171"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"03870"	"COL1A1_000046"	"g.48273524C>T"	""	""	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705172"	"0"	"95"	"17"	"48273524"	"48273524"	"subst"	"0"	"03894"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	""	""	"VUS"	""
"0000705173"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"00085"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic"	""
"0000705174"	"0"	"99"	"17"	"48273524"	"48273524"	"subst"	"0"	"00085"	"COL1A1_000828"	"g.48273524C>G"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196163C>G"	""	"pathogenic"	""
"0000705175"	"0"	"99"	"17"	"48273519"	"48273526"	"del"	"0"	"03885"	"COL1A1_000950"	"g.48273519_48273526del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196158_50196165del"	""	"pathogenic"	""
"0000705176"	"0"	"99"	"17"	"48273523"	"48273523"	"subst"	"0"	"00085"	"COL1A1_000047"	"g.48273523C>G"	""	"Krakow et al. 1996 {Localkrakow_et_al_1996.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs72645358"	"0"	""	""	"g.50196162C>G"	""	"pathogenic"	""
"0000705177"	"0"	"95"	"17"	"48273520"	"48273522"	"del"	"0"	"03894"	"COL1A1_001131"	"g.48273520_48273522del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705178"	"0"	"99"	"17"	"48273520"	"48273521"	"delins"	"0"	"00085"	"COL1A1_000299"	"g.48273520_48273521delinsC"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196159_50196160delinsC"	""	"pathogenic"	""
"0000705179"	"0"	"99"	"17"	"48273521"	"48273521"	"dup"	"0"	"03704"	"COL1A1_000298"	"g.48273521dup"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196160dup"	""	"pathogenic"	""
"0000705180"	"0"	"99"	"17"	"48273514"	"48273514"	"subst"	"0"	"03879"	"COL1A1_000859"	"g.48273514A>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196153A>G"	""	"pathogenic"	""
"0000705181"	"0"	"99"	"17"	"48273514"	"48273514"	"subst"	"0"	"00085"	"COL1A1_000859"	"g.48273514A>G"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196153A>G"	""	"pathogenic"	""
"0000705182"	"0"	"79"	"17"	"48273511"	"48273511"	"del"	"0"	"03885"	"COL1A1_000951"	"g.48273511del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196150del"	""	"pathogenic"	""
"0000705183"	"0"	"99"	"17"	"48273511"	"48273511"	"subst"	"0"	"03865"	"COL1A1_000756"	"g.48273511C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50196150C>T"	""	"pathogenic"	""
"0000705184"	"0"	"99"	"17"	"48273370"	"48273381"	"del"	"0"	"00085"	"COL1A1_000389"	"g.48273370_48273381del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72645359"	"0"	""	""	"g.50196009_50196020del"	""	"pathogenic"	""
"0000705185"	"0"	"99"	"17"	"48273339"	"48273339"	"subst"	"0"	"00085"	"COL1A1_000390"	"g.48273339T>C"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645360"	"0"	""	""	"g.50195978T>C"	""	"pathogenic"	""
"0000705186"	"0"	"99"	"17"	"48273339"	"48273339"	"subst"	"0"	"03870"	"COL1A1_000390"	"g.48273339T>C"	""	""	""	""	""	"Unknown"	""	"rs72645360"	"0"	""	""	"g.50195978T>C"	""	"pathogenic"	""
"0000705187"	"0"	"99"	"17"	"48273339"	"48273339"	"subst"	"0"	"03870"	"COL1A1_000390"	"g.48273339T>C"	""	""	""	""	""	"Unknown"	""	"rs72645360"	"0"	""	""	"g.50195978T>C"	""	"pathogenic"	""
"0000705188"	"0"	"99"	"17"	"48273339"	"48273339"	"subst"	"0"	"03870"	"COL1A1_000390"	"g.48273339T>C"	""	""	""	""	""	"Unknown"	""	"rs72645360"	"0"	""	""	"g.50195978T>C"	""	"pathogenic"	""
"0000705189"	"0"	"99"	"17"	"48273338"	"48273338"	"subst"	"0"	"00085"	"COL1A1_000391"	"g.48273338C>G"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645361"	"0"	""	""	"g.50195977C>G"	""	"pathogenic"	""
"0000705190"	"0"	"95"	"17"	"48273337"	"48273337"	"subst"	"0"	"03894"	"COL1A1_001148"	"g.48273337C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705191"	"0"	"99"	"17"	"48273328"	"48273328"	"subst"	"0"	"00085"	"COL1A1_000049"	"g.48273328C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs66664580"	"0"	""	""	"g.50195967C>T"	""	"pathogenic"	""
"0000705192"	"0"	"99"	"17"	"48273328"	"48273328"	"subst"	"0"	"03855"	"COL1A1_000049"	"g.48273328C>T"	""	""	""	""	""	"Unknown"	""	"rs66664580"	"0"	""	""	"g.50195967C>T"	""	"pathogenic"	""
"0000705193"	"0"	"99"	"17"	"48273328"	"48273328"	"subst"	"0"	"00085"	"COL1A1_000049"	"g.48273328C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	"rs66664580"	"0"	""	""	"g.50195967C>T"	""	"pathogenic"	""
"0000705194"	"0"	"99"	"17"	"48273328"	"48273328"	"subst"	"0"	"00085"	"COL1A1_000048"	"g.48273328C>A"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs66664581"	"0"	""	""	"g.50195967C>A"	""	"pathogenic"	""
"0000705195"	"0"	"99"	"17"	"48273319"	"48273319"	"subst"	"0"	"00085"	"COL1A1_000915"	"g.48273319C>G"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195958C>G"	""	"pathogenic"	""
"0000705196"	"0"	"99"	"17"	"48273319"	"48273319"	"subst"	"0"	"03856"	"COL1A1_000545"	"g.48273319C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195958C>A"	""	"pathogenic"	""
"0000705197"	"21"	"99"	"17"	"48273313"	"48273313"	"del"	"0"	"03872"	"COL1A1_000842"	"g.48273313del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195952del"	""	"pathogenic"	""
"0000705198"	"0"	"95"	"17"	"48273312"	"48273312"	"del"	"0"	"03894"	"COL1A1_000842"	"g.48273312del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705199"	"0"	"79"	"17"	"48273309"	"48273309"	"subst"	"0"	"00475"	"COL1A1_000635"	"g.48273309C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195948C>T"	""	"pathogenic"	""
"0000705200"	"0"	"99"	"17"	"48273309"	"48273309"	"subst"	"0"	"03885"	"COL1A1_000952"	"g.48273309C>A"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195948C>A"	""	"pathogenic"	""
"0000705201"	"11"	"93"	"17"	"48273295"	"48273295"	"subst"	"0"	"00085"	"COL1A1_000451"	"g.48273295C>A"	""	"{PMID:Witecka et al., 2008:18670065}"	""	""	""	"Unknown"	""	"rs72645362"	"0"	""	""	"g.50195934C>A"	""	"VUS"	""
"0000705202"	"0"	"33"	"17"	"48273295"	"48273295"	"subst"	"0"	"00085"	"COL1A1_000451"	"g.48273295C>A"	""	"{PMID:Ziganshin et al., 2015:26188975}"	""	""	""	"Unknown"	""	"rs72645362"	"0"	""	""	"g.50195934C>A"	""	"benign"	""
"0000705203"	"0"	"99"	"17"	"48273292"	"48273292"	"subst"	"0"	"00085"	"COL1A1_000050"	"g.48273292C>G"	""	"{PMID:Mackay et al., 1994:8019571}"	""	""	""	"Unknown"	""	"rs72645363"	"0"	""	""	"g.50195931C>G"	""	"pathogenic"	""
"0000705204"	"0"	"99"	"17"	"48273292"	"48273292"	"subst"	"0"	"00085"	"COL1A1_000050"	"g.48273292C>G"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72645363"	"0"	""	""	"g.50195931C>G"	""	"pathogenic"	""
"0000705205"	"21"	"99"	"17"	"48273283"	"48273287"	"del"	"0"	"00085"	"COL1A1_000776"	"g.48273283_48273287del"	""	"{PMID:Yamada et al., 2012:22987783}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195922_50195926del"	""	"pathogenic"	""
"0000705206"	"0"	"99"	"17"	"48273283"	"48273287"	"del"	"0"	"00085"	"COL1A1_000776"	"g.48273283_48273287del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195922_50195926del"	""	"pathogenic"	""
"0000705207"	"0"	"99"	"17"	"48273283"	"48273283"	"subst"	"0"	"00085"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645364"	"0"	""	""	"g.50195922C>T"	""	"pathogenic"	""
"0000705208"	"0"	"99"	"17"	"48273283"	"48273283"	"subst"	"0"	"00085"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	"rs72645364"	"0"	""	""	"g.50195922C>T"	""	"pathogenic"	""
"0000705209"	"0"	"99"	"17"	"48273283"	"48273283"	"subst"	"0"	"03870"	"COL1A1_000392"	"g.48273283C>T"	""	""	""	""	""	"Unknown"	""	"rs72645364"	"0"	""	""	"g.50195922C>T"	""	"pathogenic"	""
"0000705211"	"0"	"99"	"17"	"48273283"	"48273283"	"subst"	"0"	"00085"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	"rs72645364"	"0"	""	""	"g.50195922C>T"	""	"pathogenic"	""
"0000705212"	"0"	"99"	"17"	"48273028"	"48273028"	"subst"	"0"	"00085"	"COL1A1_000393"	"g.48273028T>G"	""	"{PMID:Tamborlane et al., 2004:15502558}"	""	""	""	"Unknown"	""	"rs66511271"	"0"	""	""	"g.50195667T>G"	""	"pathogenic"	""
"0000705213"	"0"	"99"	"17"	"48273028"	"48273028"	"subst"	"0"	"00085"	"COL1A1_000394"	"g.48273028T>C"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66511271"	"0"	""	""	"g.50195667T>C"	""	"pathogenic"	""
"0000705214"	"0"	"99"	"17"	"48273028"	"48273028"	"subst"	"0"	"03704"	"COL1A1_000394"	"g.48273028T>C"	""	"{PMID:Willing et al., 1993:8456806}"	""	""	""	"Unknown"	""	"rs66511271"	"0"	""	""	"g.50195667T>C"	""	"pathogenic"	""
"0000705215"	"0"	"99"	"17"	"48273027"	"48273027"	"subst"	"0"	"00085"	"COL1A1_000934"	"g.48273027C>A"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195666C>A"	""	"pathogenic"	""
"0000705216"	"0"	"99"	"17"	"48273026"	"48273026"	"subst"	"0"	"00085"	"COL1A1_000052"	"g.48273026C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66721653"	"0"	""	""	"g.50195665C>T"	""	"pathogenic"	""
"0000705217"	"0"	"99"	"17"	"48273026"	"48273026"	"subst"	"0"	"00085"	"COL1A1_000052"	"g.48273026C>T"	""	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	"Unknown"	""	"rs66721653"	"0"	""	""	"g.50195665C>T"	""	"pathogenic"	""
"0000705218"	"0"	"99"	"17"	"48273026"	"48273026"	"subst"	"0"	"01819"	"COL1A1_000052"	"g.48273026C>T"	""	""	""	""	""	"Unknown"	""	"rs66721653"	"0"	""	""	"g.50195665C>T"	""	"pathogenic"	""
"0000705219"	"10"	"99"	"17"	"48273026"	"48273026"	"subst"	"0"	"03879"	"COL1A1_000052"	"g.48273026C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs66721653"	"0"	""	""	"g.50195665C>T"	""	"pathogenic"	""
"0000705220"	"0"	"99"	"17"	"48273026"	"48273026"	"subst"	"0"	"03870"	"COL1A1_000052"	"g.48273026C>T"	""	""	""	""	""	"Unknown"	""	"rs66721653"	"0"	""	""	"g.50195665C>T"	""	"pathogenic"	""
"0000705221"	"0"	"99"	"17"	"48273026"	"48273026"	"subst"	"0"	"00085"	"COL1A1_000051"	"g.48273026C>A"	""	"{PMID:Wirtz et al., 1993:8339541}"	""	""	""	"Unknown"	""	"rs66721654"	"0"	""	""	"g.50195665C>A"	""	"pathogenic"	""
"0000705222"	"0"	"99"	"17"	"48273026"	"48273026"	"subst"	"0"	"03704"	"COL1A1_000051"	"g.48273026C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66721654"	"0"	""	""	"g.50195665C>A"	""	"pathogenic"	""
"0000705223"	"10"	"95"	"17"	"48273026"	"48273026"	"subst"	"0"	"03897"	"COL1A1_000051"	"g.48273026C>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs66721654"	"0"	""	""	"g.50195665C>A"	""	"VUS"	""
"0000705224"	"0"	"99"	"17"	"48273025"	"48273025"	"subst"	"0"	"03704"	"COL1A1_000473"	"g.48273025C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195664C>T"	""	"pathogenic"	""
"0000705225"	"11"	"99"	"17"	"48273015"	"48273019"	"del"	"0"	"00085"	"COL1A1_000772"	"g.48273015_48273019del"	""	"{PMID:Chen et al., 2012:22795108}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195654_50195658del"	""	"pathogenic"	""
"0000705226"	"0"	"95"	"17"	"48273017"	"48273017"	"subst"	"0"	"03894"	"COL1A1_001120"	"g.48273017C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705227"	"0"	"95"	"17"	"48273017"	"48273017"	"subst"	"0"	"03894"	"COL1A1_001120"	"g.48273017C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705228"	"0"	"99"	"17"	"48273017"	"48273017"	"subst"	"0"	"00085"	"COL1A1_000053"	"g.48273017C>A"	""	"{PMID:Valli et al., 1991:1988452}"	""	""	""	"Unknown"	""	"rs72645365"	"0"	""	""	"g.50195656C>A"	""	"pathogenic"	""
"0000705229"	"0"	"99"	"17"	"48273011"	"48273011"	"subst"	"0"	"03871"	"COL1A1_000783"	"g.48273011G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195650G>A"	""	"pathogenic"	""
"0000705230"	"21"	"99"	"17"	"48273011"	"48273011"	"subst"	"0"	"03871"	"COL1A1_000783"	"g.48273011G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195650G>A"	""	"pathogenic"	""
"0000705231"	"0"	"99"	"17"	"48273014"	"48273014"	"del"	"0"	"00085"	"COL1A1_001053"	"g.48273014del"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195653del"	""	"pathogenic"	""
"0000705232"	"0"	"99"	"17"	"48273008"	"48273008"	"subst"	"0"	"00085"	"COL1A1_000844"	"g.48273008C>T"	""	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195647C>T"	""	"pathogenic"	""
"0000705233"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00085"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705234"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00085"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705235"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"03704"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705236"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00085"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705237"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"03853"	"COL1A1_000056"	"g.48273002G>A"	""	""	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705238"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00475"	"COL1A1_000056"	"g.48273002G>A"	""	""	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705239"	"11"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"03862"	"COL1A1_000056"	"g.48273002G>A"	""	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705240"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00085"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705241"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"03879"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705242"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00085"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID: van Dijk et al, 2011:22570641}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705243"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00085"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Zhytnik et al., 2017:28810924}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000705244"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00085"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72645366"	"0"	""	""	""	""	"VUS"	""
"0000705245"	"0"	"95"	"17"	"48273002"	"48273002"	"subst"	"0"	"03897"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs72645366"	"0"	""	""	"g.50195641G>A"	""	"VUS"	""
"0000705246"	"0"	"95"	"17"	"48272999"	"48272999"	"subst"	"0"	"03894"	"COL1A1_001118"	"g.48272999C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705247"	"11"	"79"	"17"	"48272999"	"48272999"	"subst"	"0"	"00085"	"COL1A1_001118"	"g.48272999C>T"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705248"	"0"	"99"	"17"	"48272999"	"48272999"	"subst"	"0"	"01819"	"COL1A1_000710"	"g.48272999C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195638C>G"	""	"pathogenic"	""
"0000705249"	"20"	"99"	"17"	"48272984"	"48273000"	"del"	"0"	"03879"	"COL1A1_000867"	"g.48272984_48273000del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195623_50195639del"	""	"pathogenic"	""
"0000705250"	"0"	"95"	"17"	"48272990"	"48272990"	"subst"	"0"	"03894"	"COL1A1_001093"	"g.48272990C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705251"	"0"	"99"	"17"	"48272989"	"48272989"	"subst"	"0"	"00085"	"COL1A1_000057"	"g.48272989C>G"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs66494876"	"0"	""	""	"g.50195628C>G"	""	"pathogenic"	""
"0000705252"	"0"	"99"	"17"	"48272989"	"48272989"	"subst"	"0"	"03704"	"COL1A1_000054"	"g.48272989C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66494876"	"0"	""	""	"g.50195628C>A"	""	"pathogenic"	""
"0000705253"	"0"	"99"	"17"	"48272984"	"48272984"	"subst"	"0"	"03853"	"COL1A1_000469"	"g.48272984G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195623G>A"	""	"pathogenic"	""
"0000705254"	"0"	"99"	"17"	"48272984"	"48272984"	"subst"	"0"	"03870"	"COL1A1_000469"	"g.48272984G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195623G>A"	""	"pathogenic"	""
"0000705255"	"0"	"99"	"17"	"48272984"	"48272984"	"subst"	"0"	"03853"	"COL1A1_000469"	"g.48272984G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195623G>A"	""	"pathogenic"	""
"0000705256"	"0"	"99"	"17"	"48272984"	"48272984"	"subst"	"0"	"03894"	"COL1A1_000469"	"g.48272984G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195623G>A"	""	"pathogenic"	""
"0000705257"	"0"	"99"	"17"	"48272981"	"48272981"	"subst"	"0"	"00085"	"COL1A1_000059"	"g.48272981C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72645367"	"0"	""	""	"g.50195620C>T"	""	"pathogenic"	""
"0000705258"	"0"	"99"	"17"	"48272981"	"48272981"	"subst"	"0"	"03866"	"COL1A1_000059"	"g.48272981C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	"rs72645367"	"0"	""	""	"g.50195620C>T"	""	"pathogenic"	""
"0000705259"	"0"	"99"	"17"	"48272981"	"48272981"	"subst"	"0"	"00085"	"COL1A1_000059"	"g.48272981C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs72645367"	"0"	""	""	"g.50195620C>T"	""	"pathogenic"	""
"0000705260"	"0"	"99"	"17"	"48272980"	"48272980"	"subst"	"0"	"01819"	"COL1A1_000711"	"g.48272980C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195619C>T"	""	"pathogenic"	""
"0000705261"	"0"	"95"	"17"	"48272980"	"48272980"	"subst"	"0"	"03894"	"COL1A1_001110"	"g.48272980C>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705262"	"0"	"99"	"17"	"48272980"	"48272980"	"subst"	"0"	"03704"	"COL1A1_000474"	"g.48272980C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195619C>A"	""	"pathogenic"	""
"0000705263"	"0"	"99"	"17"	"48272972"	"48272972"	"subst"	"0"	"00085"	"COL1A1_000058"	"g.48272972C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	"Unknown"	""	"rs72645368"	"0"	""	""	"g.50195611C>T"	""	"pathogenic"	""
"0000705264"	"0"	"99"	"17"	"48272972"	"48272972"	"subst"	"0"	"00085"	"COL1A1_000058"	"g.48272972C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72645368"	"0"	""	""	"g.50195611C>T"	""	"pathogenic"	""
"0000705265"	"0"	"99"	"17"	"48272972"	"48272972"	"subst"	"0"	"00085"	"COL1A1_000058"	"g.48272972C>T"	""	"{PMID:Brizola et al., 2015:26604951}"	""	""	""	"Unknown"	""	"rs72645368"	"0"	""	""	"g.50195611C>T"	""	"pathogenic"	""
"0000705266"	"0"	"99"	"17"	"48272962"	"48272962"	"subst"	"0"	"03855"	"COL1A1_000588"	"g.48272962C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195601C>G"	""	"pathogenic"	""
"0000705267"	"0"	"99"	"17"	"48272962"	"48272962"	"subst"	"0"	"00085"	"COL1A1_000588"	"g.48272962C>G"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195601C>G"	""	"pathogenic"	""
"0000705268"	"0"	"99"	"17"	"48272962"	"48272962"	"subst"	"0"	"00085"	"COL1A1_000588"	"g.48272962C>G"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705269"	"0"	"99"	"17"	"48272961"	"48272961"	"del"	"0"	"03704"	"COL1A1_000300"	"g.48272961del"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	"rs72645369"	"0"	""	""	"g.50195600del"	""	"pathogenic"	""
"0000705270"	"0"	"99"	"17"	"48272961"	"48272961"	"del"	"0"	"03853"	"COL1A1_000300"	"g.48272961del"	""	""	""	""	""	"Unknown"	""	"rs72645369"	"0"	""	""	"g.50195600del"	""	"pathogenic"	""
"0000705271"	"0"	"99"	"17"	"48272961"	"48272961"	"dup"	"0"	"03704"	"COL1A1_000301"	"g.48272961dup"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000705272"	"21"	"99"	"17"	"48272961"	"48272961"	"dup"	"0"	"03879"	"COL1A1_000301"	"g.48272961dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000705273"	"0"	"99"	"17"	"48272961"	"48272961"	"dup"	"0"	"03879"	"COL1A1_000301"	"g.48272961dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000705274"	"10"	"99"	"17"	"48272961"	"48272961"	"dup"	"0"	"03879"	"COL1A1_000301"	"g.48272961dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000705275"	"20"	"99"	"17"	"48272961"	"48272961"	"dup"	"0"	"03879"	"COL1A1_000301"	"g.48272961dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000705276"	"11"	"99"	"17"	"48272961"	"48272961"	"dup"	"0"	"03879"	"COL1A1_000301"	"g.48272961dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000705277"	"21"	"99"	"17"	"48272961"	"48272961"	"dup"	"0"	"03879"	"COL1A1_000301"	"g.48272961dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic"	""
"0000705278"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"00085"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705279"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"03704"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705280"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"03855"	"COL1A1_000281"	"g.48272955del"	""	""	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705281"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"03855"	"COL1A1_000281"	"g.48272955del"	""	""	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705282"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"00475"	"COL1A1_000281"	"g.48272955del"	""	""	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705283"	"11"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"00475"	"COL1A1_000281"	"g.48272955del"	""	""	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705284"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"00085"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705285"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"03870"	"COL1A1_000281"	"g.48272955del"	""	""	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705286"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"03870"	"COL1A1_000281"	"g.48272955del"	""	""	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705287"	"0"	"95"	"17"	"48272955"	"48272955"	"del"	"0"	"03894"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	""	""	"VUS"	""
"0000705288"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"03897"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000705289"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"00085"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72645370"	"0"	""	""	""	""	"VUS"	""
"0000705290"	"0"	"99"	"17"	"48272954"	"48272955"	"ins"	"0"	"03885"	"COL1A1_000953"	"g.48272954_48272955insG"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195593_50195594insG"	""	"pathogenic"	""
"0000705291"	"0"	"99"	"17"	"48272954"	"48272954"	"subst"	"0"	"03865"	"COL1A1_000757"	"g.48272954C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195593C>T"	""	"pathogenic"	""
"0000705292"	"0"	"99"	"17"	"48272953"	"48272953"	"subst"	"0"	"03704"	"COL1A1_000060"	"g.48272953C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72645371"	"0"	""	""	"g.50195592C>G"	""	"pathogenic"	""
"0000705293"	"0"	"79"	"17"	"48272945"	"48272945"	"subst"	"0"	"03866"	"COL1A1_000775"	"g.48272945C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195584C>T"	""	"pathogenic"	""
"0000705294"	"11"	"59"	"17"	"48272945"	"48272945"	"subst"	"0"	"03872"	"COL1A1_000775"	"g.48272945C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195584C>T"	""	"pathogenic"	""
"0000705295"	"0"	"95"	"17"	"48272945"	"48272945"	"subst"	"0"	"03894"	"COL1A1_000775"	"g.48272945C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705296"	"0"	"99"	"17"	"48272945"	"48272945"	"subst"	"0"	"03704"	"COL1A1_000061"	"g.48272945C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648313"	"0"	""	""	"g.50195584C>A"	""	"pathogenic"	""
"0000705297"	"21"	"99"	"17"	"48272945"	"48272945"	"subst"	"0"	"00085"	"COL1A1_000061"	"g.48272945C>A"	""	"{PMID:Mrosk et al., 2018:29499418}"	""	""	""	"Unknown"	""	"rs72648313"	"0"	""	""	""	""	"VUS"	""
"0000705298"	"0"	"99"	"17"	"48272945"	"48272945"	"subst"	"0"	"00085"	"COL1A1_000061"	"g.48272945C>A"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	"rs72648313"	"0"	""	""	""	""	"VUS"	""
"0000705299"	"0"	"99"	"17"	"48272944"	"48272944"	"subst"	"0"	"00085"	"COL1A1_000062"	"g.48272944C>A"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648314"	"0"	""	""	"g.50195583C>A"	""	"pathogenic"	""
"0000705300"	"0"	"99"	"17"	"48272936"	"48272936"	"subst"	"0"	"00085"	"COL1A1_000064"	"g.48272936C>T"	""	"{PMID:Marini et al., 2007:17078022} (Mottes, personal communication)"	""	""	""	"Unknown"	""	"rs67182492"	"0"	""	""	"g.50195575C>T"	""	"pathogenic"	""
"0000705301"	"0"	"99"	"17"	"48272936"	"48272936"	"subst"	"0"	"03704"	"COL1A1_000063"	"g.48272936C>A"	""	"{PMID:Byers, 1990:2238087}"	""	""	""	"Unknown"	""	"rs67182491"	"0"	""	""	"g.50195575C>A"	""	"pathogenic"	""
"0000705302"	"0"	"99"	"17"	"48272936"	"48272936"	"subst"	"0"	"03704"	"COL1A1_000063"	"g.48272936C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67182491"	"0"	""	""	"g.50195575C>A"	""	"pathogenic"	""
"0000705303"	"0"	"99"	"17"	"48272936"	"48272936"	"subst"	"0"	"03704"	"COL1A1_000063"	"g.48272936C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67182491"	"0"	""	""	"g.50195575C>A"	""	"pathogenic"	""
"0000705304"	"0"	"59"	"17"	"48272927"	"48272927"	"subst"	"0"	"03872"	"COL1A1_000790"	"g.48272927C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic"	""
"0000705305"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic"	""
"0000705306"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic"	""
"0000705307"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"03870"	"COL1A1_000790"	"g.48272927C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic"	""
"0000705308"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"03870"	"COL1A1_000790"	"g.48272927C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic"	""
"0000705309"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic"	""
"0000705310"	"0"	"95"	"17"	"48272927"	"48272927"	"subst"	"0"	"03894"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705311"	"0"	"95"	"17"	"48272927"	"48272927"	"subst"	"0"	"03894"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705312"	"0"	"95"	"17"	"48272927"	"48272927"	"subst"	"0"	"03894"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705313"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000790"	"g.48272927C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705314"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"03704"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	"Unknown"	""	"rs72648315"	"0"	""	""	"g.50195566C>G"	""	"pathogenic"	""
"0000705315"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72648315"	"0"	""	""	"g.50195566C>G"	""	"pathogenic"	""
"0000705316"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72648315"	"0"	""	""	"g.50195566C>G"	""	"pathogenic"	""
"0000705317"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72648315"	"0"	""	""	"g.50195566C>G"	""	"pathogenic"	""
"0000705318"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"03870"	"COL1A1_000395"	"g.48272927C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195566C>G"	""	"pathogenic"	""
"0000705319"	"0"	"99"	"17"	"48272927"	"48272927"	"subst"	"0"	"00085"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	"rs72648315"	"0"	""	""	"g.50195566C>G"	""	"pathogenic"	""
"0000705320"	"0"	"99"	"17"	"48272926"	"48272926"	"subst"	"0"	"03897"	"COL1A1_001227"	"g.48272926A>C"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195565A>C"	""	"pathogenic"	""
"0000705321"	"0"	"95"	"17"	"48272925"	"48272925"	"del"	"0"	"03894"	"COL1A1_001136"	"g.48272925del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"effect on splicing predicted from mini gene splicing assay"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705322"	"0"	"99"	"17"	"48272924"	"48272927"	"del"	"0"	"00085"	"COL1A1_000396"	"g.48272924_48272927del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72648316"	"0"	""	""	"g.50195563_50195566del"	""	"pathogenic"	""
"0000705323"	"0"	"99"	"17"	"48272924"	"48272927"	"del"	"0"	"00085"	"COL1A1_000396"	"g.48272924_48272927del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72648316"	"0"	""	""	"g.50195563_50195566del"	""	"pathogenic"	""
"0000705324"	"0"	"99"	"17"	"48272840"	"48272840"	"subst"	"0"	"00085"	"COL1A1_000824"	"g.48272840C>T"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195479C>T"	""	"pathogenic"	""
"0000705325"	"0"	"99"	"17"	"48272834"	"48272834"	"del"	"0"	"03855"	"COL1A1_000589"	"g.48272834del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195473del"	""	"pathogenic"	""
"0000705326"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"00085"	"COL1A1_000067"	"g.48272830C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66548637"	"0"	""	""	"g.50195469C>T"	""	"pathogenic"	""
"0000705327"	"0"	"59"	"17"	"48272830"	"48272830"	"subst"	"0"	"03865"	"COL1A1_000067"	"g.48272830C>T"	""	""	""	""	""	"Unknown"	""	"rs66548637"	"0"	""	""	"g.50195469C>T"	""	"pathogenic"	""
"0000705328"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"03865"	"COL1A1_000067"	"g.48272830C>T"	""	""	""	""	""	"Unknown"	""	"rs66548637"	"0"	""	""	"g.50195469C>T"	""	"pathogenic"	""
"0000705329"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"00085"	"COL1A1_000067"	"g.48272830C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs66548637"	"0"	""	""	"g.50195469C>T"	""	"pathogenic"	""
"0000705330"	"0"	"95"	"17"	"48272830"	"48272830"	"subst"	"0"	"03894"	"COL1A1_000067"	"g.48272830C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs66548637"	"0"	""	""	""	""	"VUS"	""
"0000705331"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"00085"	"COL1A1_000065"	"g.48272830C>G"	""	"{PMID:Sztrolovics et al., 1994:7520724}"	""	""	""	"Unknown"	""	"rs66548638"	"0"	""	""	"g.50195469C>G"	""	"pathogenic"	""
"0000705332"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"00085"	"COL1A1_000066"	"g.48272830C>A"	""	"Wilcox et al., 1994 {Localwilcox_et_al_1994.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs66548636"	"0"	""	""	"g.50195469C>A"	""	"pathogenic"	""
"0000705333"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"03704"	"COL1A1_000066"	"g.48272830C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66548636"	"0"	""	""	"g.50195469C>A"	""	"pathogenic"	""
"0000705334"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"00085"	"COL1A1_000066"	"g.48272830C>A"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs66548636"	"0"	""	""	"g.50195469C>A"	""	"pathogenic"	""
"0000705335"	"0"	"99"	"17"	"48272830"	"48272830"	"subst"	"0"	"00085"	"COL1A1_000066"	"g.48272830C>A"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	"rs66548636"	"0"	""	""	""	""	"VUS"	""
"0000705336"	"0"	"99"	"17"	"48272829"	"48272829"	"subst"	"0"	"03855"	"COL1A1_000590"	"g.48272829C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195468C>G"	""	"pathogenic"	""
"0000705337"	"0"	"91"	"17"	"48272827"	"48272827"	"subst"	"0.00099892"	"03704"	"COL1A1_000482"	"g.48272827C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195466C>T"	""	"VUS"	""
"0000705338"	"11"	"11"	"17"	"48272827"	"48272827"	"subst"	"0.00099892"	"00085"	"COL1A1_000482"	"g.48272827C>T"	""	"{PMID:Chandler et al., 2018:29595812}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195466C>T"	""	"likely benign"	""
"0000705339"	"0"	"99"	"17"	"48272821"	"48272821"	"subst"	"0"	"03865"	"COL1A1_000758"	"g.48272821C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195460C>T"	""	"pathogenic"	""
"0000705340"	"0"	"99"	"17"	"48272820"	"48272820"	"subst"	"0"	"00085"	"COL1A1_000068"	"g.48272820C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648317"	"0"	""	""	"g.50195459C>T"	""	"pathogenic"	""
"0000705341"	"0"	"99"	"17"	"48272812"	"48272812"	"subst"	"0"	"00085"	"COL1A1_000069"	"g.48272812C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72648318"	"0"	""	""	"g.50195451C>T"	""	"pathogenic"	""
"0000705342"	"10"	"97"	"17"	"48272809"	"48272809"	"subst"	"0"	"00085"	"COL1A1_001078"	"g.48272809C>T"	""	"{PMID:Duan et al., 2018:29637746}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195448C>T"	""	"likely pathogenic"	""
"0000705343"	"0"	"95"	"17"	"48272803"	"48272803"	"subst"	"0"	"03897"	"COL1A1_001314"	"g.48272803C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195442C>T"	""	"VUS"	""
"0000705344"	"0"	"99"	"17"	"48272803"	"48272803"	"subst"	"0"	"03704"	"COL1A1_000070"	"g.48272803C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648319"	"0"	""	""	"g.50195442C>A"	""	"pathogenic"	""
"0000705345"	"0"	"99"	"17"	"48272802"	"48272802"	"subst"	"0"	"03704"	"COL1A1_000072"	"g.48272802C>T"	""	"{PMID:Culbert et al., 1995:7487936}"	""	""	""	"Unknown"	""	"rs66501246"	"0"	""	""	"g.50195441C>T"	""	"pathogenic"	""
"0000705346"	"0"	"99"	"17"	"48272802"	"48272802"	"subst"	"0"	"03704"	"COL1A1_000072"	"g.48272802C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66501246"	"0"	""	""	"g.50195441C>T"	""	"pathogenic"	""
"0000705347"	"0"	"99"	"17"	"48272802"	"48272802"	"subst"	"0"	"00085"	"COL1A1_000071"	"g.48272802C>G"	""	"{PMID:Sarafova et al., 1998:9600458}"	""	""	""	"Unknown"	""	"rs66501246"	"0"	""	""	"g.50195441C>G"	""	"pathogenic"	""
"0000705348"	"0"	"99"	"17"	"48272802"	"48272802"	"subst"	"0"	"00085"	"COL1A1_000071"	"g.48272802C>G"	""	"{PMID:Marini et al., 2007:17078022} (Marini, personal communication)"	""	""	""	"Unknown"	""	"rs66501246"	"0"	""	""	"g.50195441C>G"	""	"pathogenic"	""
"0000705349"	"0"	"99"	"17"	"48272794"	"48272794"	"subst"	"0"	"00085"	"COL1A1_001086"	"g.48272794C>A"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	"1200 +1G>GT"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000705350"	"0"	"79"	"17"	"48272794"	"48272795"	"del"	"0"	"00635"	"COL1A1_000519"	"g.48272794_48272795del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195433_50195434del"	""	"pathogenic"	""
"0000705351"	"0"	"99"	"17"	"48272794"	"48272794"	"subst"	"0"	"03870"	"COL1A1_000397"	"g.48272794C>T"	""	""	""	""	""	"Unknown"	""	"rs72648320"	"0"	""	""	"g.50195433C>T"	""	"pathogenic"	""
"0000705352"	"0"	"95"	"17"	"48272794"	"48272794"	"subst"	"0"	"01819"	"COL1A1_000397"	"g.48272794C>T"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	"rs72648320"	"0"	""	""	"g.50195433C>T"	""	"VUS"	""
"0000705353"	"0"	"99"	"17"	"48272794"	"48272794"	"subst"	"0"	"00085"	"COL1A1_000397"	"g.48272794C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72648320"	"0"	""	""	""	""	"VUS"	""
"0000705354"	"0"	"99"	"17"	"48272794"	"48272794"	"subst"	"0"	"03853"	"COL1A1_000465"	"g.48272794C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195433C>G"	""	"pathogenic"	""
"0000705355"	"0"	"95"	"17"	"48272794"	"48272794"	"subst"	"0"	"03894"	"COL1A1_001086"	"g.48272794C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705356"	"0"	"99"	"17"	"48272692"	"48272692"	"subst"	"0"	"00085"	"COL1A1_000398"	"g.48272692C>T"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72648321"	"0"	""	""	"g.50195331C>T"	""	"pathogenic"	""
"0000705357"	"0"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"03872"	"COL1A1_000840"	"g.48272691C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195330C>T"	""	"pathogenic"	""
"0000705358"	"0"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"00085"	"COL1A1_000840"	"g.48272691C>T"	""	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195330C>T"	""	"pathogenic"	""
"0000705359"	"20"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"03879"	"COL1A1_000840"	"g.48272691C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195330C>T"	""	"pathogenic"	""
"0000705360"	"0"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"03879"	"COL1A1_000840"	"g.48272691C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195330C>T"	""	"pathogenic"	""
"0000705361"	"0"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"03894"	"COL1A1_000840"	"g.48272691C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195330C>T"	""	"pathogenic"	""
"0000705362"	"0"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"03704"	"COL1A1_000073"	"g.48272691C>A"	""	"{PMID:Byers, 1990:2238087}"	""	""	""	"Unknown"	""	"rs72648322"	"0"	""	""	"g.50195330C>A"	""	"pathogenic"	""
"0000705363"	"0"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"00085"	"COL1A1_000073"	"g.48272691C>A"	""	"Cohen et al., 1996 {Localcohen_et_al_1996a.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs72648322"	"0"	""	""	"g.50195330C>A"	""	"pathogenic"	""
"0000705364"	"0"	"99"	"17"	"48272691"	"48272691"	"subst"	"0"	"03704"	"COL1A1_000073"	"g.48272691C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648322"	"0"	""	""	"g.50195330C>A"	""	"pathogenic"	""
"0000705365"	"0"	"79"	"17"	"48272691"	"48272691"	"subst"	"0"	"00475"	"COL1A1_000073"	"g.48272691C>A"	""	""	""	""	""	"Unknown"	""	"rs72648322"	"0"	""	""	"g.50195330C>A"	""	"pathogenic"	""
"0000705366"	"0"	"99"	"17"	"48272691"	"48272692"	"del"	"0"	"00085"	"COL1A1_000822"	"g.48272691_48272692del"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195330_50195331del"	""	"pathogenic"	""
"0000705367"	"0"	"99"	"17"	"48272690"	"48272690"	"subst"	"0"	"00085"	"COL1A1_000074"	"g.48272690C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648323"	"0"	""	""	"g.50195329C>T"	""	"pathogenic"	""
"0000705368"	"0"	"55"	"17"	"48272687"	"48272687"	"subst"	"0"	"00475"	"COL1A1_000636"	"g.48272687G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195326G>A"	""	"VUS"	""
"0000705369"	"0"	"99"	"17"	"48272682"	"48272682"	"subst"	"0"	"00085"	"COL1A1_000076"	"g.48272682C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66893387"	"0"	""	""	"g.50195321C>T"	""	"pathogenic"	""
"0000705370"	"0"	"99"	"17"	"48272682"	"48272682"	"subst"	"0"	"00085"	"COL1A1_000075"	"g.48272682C>A"	""	"Wilcox et al., 1994 {Localwilcox_et_al_1994.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs66893386"	"0"	""	""	"g.50195321C>A"	""	"pathogenic"	""
"0000705371"	"0"	"99"	"17"	"48272681"	"48272681"	"subst"	"0"	"03855"	"COL1A1_000592"	"g.48272681C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195320C>G"	""	"pathogenic"	""
"0000705372"	"0"	"99"	"17"	"48272673"	"48272673"	"subst"	"0"	"00085"	"COL1A1_000077"	"g.48272673C>T"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs66761142"	"0"	""	""	"g.50195312C>T"	""	"pathogenic"	""
"0000705373"	"0"	"99"	"17"	"48272673"	"48272673"	"subst"	"0"	"00475"	"COL1A1_000077"	"g.48272673C>T"	""	""	""	""	""	"Unknown"	""	"rs66761142"	"0"	""	""	"g.50195312C>T"	""	"pathogenic"	""
"0000705374"	"0"	"99"	"17"	"48272673"	"48272673"	"subst"	"0"	"03704"	"COL1A1_000078"	"g.48272673C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66761141"	"0"	""	""	"g.50195312C>A"	""	"pathogenic"	""
"0000705375"	"0"	"99"	"17"	"48272670"	"48272670"	"subst"	"0"	"03885"	"COL1A1_000954"	"g.48272670C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705376"	"0"	"99"	"17"	"48272664"	"48272664"	"subst"	"0"	"00085"	"COL1A1_000079"	"g.48272664C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72648324"	"0"	""	""	"g.50195303C>T"	""	"pathogenic"	""
"0000705377"	"0"	"55"	"17"	"48272657"	"48272657"	"subst"	"0"	"00475"	"COL1A1_000637"	"g.48272657G>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195296G>C"	""	"VUS"	""
"0000705378"	"0"	"99"	"17"	"48272654"	"48272654"	"subst"	"0"	"00085"	"COL1A1_000080"	"g.48272654C>G"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs72648325"	"0"	""	""	"g.50195293C>G"	""	"pathogenic"	""
"0000705379"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03704"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705380"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"00085"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Redford-Badwal et al., 1996:8613526}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705381"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03704"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705382"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"00085"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Reis et al., 2005:15741671}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705383"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03855"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705384"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03870"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705385"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03862"	"COL1A1_000083"	"g.48272649G>A"	""	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705386"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03861"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705387"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03861"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705388"	"21"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03861"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705389"	"21"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03861"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705390"	"21"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03872"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705391"	"10"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03879"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705392"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"00085"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705393"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03870"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705394"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"03870"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"pathogenic"	""
"0000705395"	"0"	"95"	"17"	"48272649"	"48272649"	"subst"	"0"	"03894"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	""	""	"VUS"	""
"0000705396"	"0"	"95"	"17"	"48272649"	"48272649"	"subst"	"0"	"03894"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	""	""	"VUS"	""
"0000705397"	"0"	"99"	"17"	"48272649"	"48272649"	"subst"	"0"	"00085"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72648326"	"0"	""	""	""	""	"VUS"	""
"0000705398"	"20"	"95"	"17"	"48272649"	"48272649"	"subst"	"0"	"03897"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs72648326"	"0"	""	""	"g.50195288G>A"	""	"VUS"	""
"0000705399"	"0"	"99"	"17"	"48272643"	"48272643"	"subst"	"0.000696685"	"00085"	"COL1A1_000084"	"g.48272643G>C"	""	"{PMID:Reis et al., 2005:15741671}"	""	""	""	"Unknown"	""	"rs72648327"	"0"	""	""	"g.50195282G>C"	""	"pathogenic"	""
"0000705400"	"0"	"99"	"17"	"48272644"	"48272644"	"del"	"0"	"03885"	"COL1A1_001008"	"g.48272644del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195283del"	""	"pathogenic"	""
"0000705401"	"0"	"99"	"17"	"48272644"	"48272644"	"del"	"0"	"03870"	"COL1A1_001008"	"g.48272644del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195283del"	""	"pathogenic"	""
"0000705402"	"0"	"99"	"17"	"48272644"	"48272644"	"del"	"0"	"03870"	"COL1A1_001008"	"g.48272644del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195283del"	""	"pathogenic"	""
"0000705403"	"0"	"99"	"17"	"48272636"	"48272636"	"subst"	"0"	"00085"	"COL1A1_000832"	"g.48272636C>T"	""	"{PMID:Wu et al., 2014:25289482}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195275C>T"	""	"pathogenic"	""
"0000705404"	"0"	"99"	"17"	"48272627"	"48272634"	"dup"	"0"	"03855"	"COL1A1_000591"	"g.48272627_48272634dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195266_50195273dup"	""	"pathogenic"	""
"0000705405"	"0"	"99"	"17"	"48272628"	"48272628"	"subst"	"0"	"00085"	"COL1A1_000081"	"g.48272628C>A"	""	"{PMID:Fertala et al., 1993:8424758}"	""	""	""	"Unknown"	""	"rs72648328"	"0"	""	""	"g.50195267C>A"	""	"pathogenic"	""
"0000705406"	"0"	"99"	"17"	"48272629"	"48272629"	"del"	"0"	"00085"	"COL1A1_000938"	"g.48272629del"	""	"{PMID:Weerakkody et al., 2016:27011056}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195268del"	""	"pathogenic"	""
"0000705407"	"0"	"99"	"17"	"48272627"	"48272627"	"subst"	"0"	"03704"	"COL1A1_000082"	"g.48272627C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648329"	"0"	""	""	"g.50195266C>G"	""	"pathogenic"	""
"0000705408"	"20"	"99"	"17"	"48272626"	"48272626"	"del"	"0"	"03879"	"COL1A1_000861"	"g.48272626del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195265del"	""	"pathogenic"	""
"0000705409"	"11"	"99"	"17"	"48272626"	"48272626"	"del"	"0"	"03879"	"COL1A1_000861"	"g.48272626del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195265del"	""	"pathogenic"	""
"0000705410"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"03704"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705411"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"00085"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705412"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"03704"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705413"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"00085"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705414"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"03702"	"COL1A1_000085"	"g.48272619C>T"	""	""	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705415"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"03704"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705416"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"00085"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Konstantinidou et al., 2009:19637253}"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705417"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"03855"	"COL1A1_000085"	"g.48272619C>T"	""	""	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705418"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"01819"	"COL1A1_000085"	"g.48272619C>T"	""	""	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705419"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"00085"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Lin et al., 2014:24486247}"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705420"	"0"	"99"	"17"	"48272619"	"48272619"	"subst"	"0"	"00085"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID: Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic"	""
"0000705421"	"0"	"99"	"17"	"48272610"	"48272610"	"subst"	"0"	"00085"	"COL1A1_000086"	"g.48272610C>A"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648331"	"0"	""	""	"g.50195249C>A"	""	"pathogenic"	""
"0000705422"	"0"	"99"	"17"	"48272602"	"48272602"	"del"	"0"	"00085"	"COL1A1_001221"	"g.48272602del"	""	"{PMID:Tongkobpetch et al., 2017:28956891}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705423"	"0"	"99"	"17"	"48272602"	"48272602"	"del"	"0"	"03865"	"COL1A1_000759"	"g.48272602del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195241del"	""	"pathogenic"	""
"0000705424"	"0"	"99"	"17"	"48272602"	"48272602"	"del"	"0"	"00085"	"COL1A1_000759"	"g.48272602del"	""	"{PMID:Tongkobpetch et al., 2017:28956891}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195241del"	""	"pathogenic"	""
"0000705425"	"0"	"99"	"17"	"48272600"	"48272600"	"subst"	"0"	"00085"	"COL1A1_000087"	"g.48272600C>A"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs72648332"	"0"	""	""	"g.50195239C>A"	""	"pathogenic"	""
"0000705426"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705427"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705428"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705429"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03855"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705430"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03870"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705431"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03879"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705432"	"0"	"95"	"17"	"48272592"	"48272592"	"subst"	"0"	"01819"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"VUS"	""
"0000705433"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03870"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705434"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03870"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705435"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03870"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705436"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03870"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705437"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03870"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705438"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03870"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	""	""	"VUS"	""
"0000705439"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"03894"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>T"	""	"pathogenic"	""
"0000705440"	"0"	"95"	"17"	"48272592"	"48272592"	"subst"	"0"	"03894"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	""	""	"VUS"	""
"0000705441"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	""	""	"VUS"	""
"0000705442"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000400"	"g.48272592C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	""	""	"VUS"	""
"0000705443"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000399"	"g.48272592C>G"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö, Prockop, Dawson and Marini, personal communication)"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>G"	""	"pathogenic"	""
"0000705444"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000399"	"g.48272592C>G"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>G"	""	"pathogenic"	""
"0000705445"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000399"	"g.48272592C>G"	""	"{PMID:Cabral and Marini, 2004:15024692}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>G"	""	"pathogenic"	""
"0000705446"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000399"	"g.48272592C>G"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>G"	""	"pathogenic"	""
"0000705447"	"0"	"99"	"17"	"48272592"	"48272592"	"subst"	"0"	"00085"	"COL1A1_000399"	"g.48272592C>G"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	"g.50195231C>G"	""	"pathogenic"	""
"0000705448"	"0"	"95"	"17"	"48272592"	"48272592"	"subst"	"0"	"03894"	"COL1A1_000399"	"g.48272592C>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs66490707"	"0"	""	""	""	""	"VUS"	""
"0000705449"	"0"	"99"	"17"	"48272462"	"48272462"	"subst"	"0"	"03870"	"COL1A1_001009"	"g.48272462C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195101C>T"	""	"pathogenic"	""
"0000705450"	"0"	"95"	"17"	"48272462"	"48272462"	"subst"	"0"	"03894"	"COL1A1_001009"	"g.48272462C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705451"	"0"	"99"	"17"	"48272460"	"48272460"	"subst"	"0"	"00085"	"COL1A1_000088"	"g.48272460C>A"	""	"{PMID:Paterson et al., 1989:2470760}"	""	""	""	"Unknown"	""	"rs72648333"	"0"	""	""	"g.50195099C>A"	""	"pathogenic"	""
"0000705452"	"0"	"99"	"17"	"48272452"	"48272452"	"subst"	"0"	"01819"	"COL1A1_000712"	"g.48272452C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195091C>A"	""	"pathogenic"	""
"0000705453"	"0"	"99"	"17"	"48272452"	"48272452"	"del"	"0"	"03870"	"COL1A1_001010"	"g.48272452del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195091del"	""	"pathogenic"	""
"0000705454"	"0"	"99"	"17"	"48272451"	"48272451"	"subst"	"0"	"03704"	"COL1A1_000671"	"g.48272451C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195090C>T"	""	"pathogenic"	""
"0000705455"	"0"	"95"	"17"	"48272451"	"48272451"	"subst"	"0"	"03894"	"COL1A1_001116"	"g.48272451C>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705456"	"0"	"57"	"17"	"48272445"	"48272445"	"subst"	"0"	"03865"	"COL1A1_000760"	"g.48272445G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195084G>A"	""	"likely pathogenic"	""
"0000705457"	"0"	"99"	"17"	"48272446"	"48272446"	"del"	"0"	"03870"	"COL1A1_001011"	"g.48272446del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195085del"	""	"pathogenic"	""
"0000705458"	"0"	"99"	"17"	"48272446"	"48272446"	"del"	"0"	"03870"	"COL1A1_001011"	"g.48272446del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195085del"	""	"pathogenic"	""
"0000705459"	"0"	"95"	"17"	"48272442"	"48272442"	"subst"	"0"	"03897"	"COL1A1_001313"	"g.48272442C>G"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195081C>G"	""	"VUS"	""
"0000705460"	"0"	"97"	"17"	"48272411"	"48272411"	"subst"	"0"	"00085"	"COL1A1_001062"	"g.48272411C>G"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195050C>G"	""	"likely pathogenic"	""
"0000705461"	"0"	"99"	"17"	"48272407"	"48272407"	"subst"	"0"	"03870"	"COL1A1_001012"	"g.48272407C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195046C>T"	""	"pathogenic"	""
"0000705462"	"0"	"99"	"17"	"48272407"	"48272407"	"subst"	"0"	"03704"	"COL1A1_000403"	"g.48272407C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648334"	"0"	""	""	"g.50195046C>G"	""	"pathogenic"	""
"0000705463"	"0"	"99"	"17"	"48272407"	"48272407"	"subst"	"0"	"00085"	"COL1A1_000845"	"g.48272407C>A"	""	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195046C>A"	""	"pathogenic"	""
"0000705464"	"0"	"99"	"17"	"48272406"	"48272406"	"subst"	"0"	"00085"	"COL1A1_000401"	"g.48272406A>G"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72648335"	"0"	""	""	"g.50195045A>G"	""	"pathogenic"	""
"0000705465"	"0"	"99"	"17"	"48272406"	"48272406"	"subst"	"0"	"03870"	"COL1A1_000746"	"g.48272406A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50195045A>C"	""	"pathogenic"	""
"0000705466"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"00085"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72648337"	"0"	""	""	"g.50194840C>T"	""	"pathogenic"	""
"0000705467"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"00085"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72648337"	"0"	""	""	"g.50194840C>T"	""	"pathogenic"	""
"0000705468"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"01819"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	""	"Unknown"	""	"rs72648337"	"0"	""	""	"g.50194840C>T"	""	"pathogenic"	""
"0000705469"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"03879"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72648337"	"0"	""	""	"g.50194840C>T"	""	"pathogenic"	""
"0000705470"	"0"	"99"	"17"	"48272201"	"48272201"	"subst"	"0"	"00085"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72648337"	"0"	""	""	"g.50194840C>T"	""	"pathogenic"	""
"0000705471"	"11"	"95"	"17"	"48272201"	"48272201"	"subst"	"0"	"03894"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"effect on splicing predicted from mini gene splicing assay"	"Unknown"	""	"rs72648337"	"0"	""	""	""	""	"VUS"	""
"0000705472"	"0"	"95"	"17"	"48272201"	"48272201"	"subst"	"0"	"03894"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72648337"	"0"	""	""	""	""	"VUS"	""
"0000705473"	"0"	"99"	"17"	"48272191"	"48272191"	"subst"	"0"	"00085"	"COL1A1_000755"	"g.48272191T>G"	""	"{PMID:Pabinger et al., 2012:22579778}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194830T>G"	""	"pathogenic"	""
"0000705474"	"0"	"99"	"17"	"48272191"	"48272191"	"subst"	"0"	"00085"	"COL1A1_000405"	"g.48272191T>C"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72648338"	"0"	""	""	"g.50194830T>C"	""	"pathogenic"	""
"0000705475"	"0"	"99"	"17"	"48272191"	"48272191"	"subst"	"0"	"03897"	"COL1A1_000405"	"g.48272191T>C"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	"rs72648338"	"0"	""	""	"g.50194830T>C"	""	"pathogenic"	""
"0000705476"	"0"	"99"	"17"	"48272180"	"48272180"	"subst"	"0"	"03704"	"COL1A1_000255"	"g.48272180C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648339"	"0"	""	""	"g.50194819C>A"	""	"pathogenic"	""
"0000705477"	"0"	"99"	"17"	"48272179"	"48272179"	"subst"	"0"	"03704"	"COL1A1_000475"	"g.48272179C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194818C>T"	""	"pathogenic"	""
"0000705478"	"0"	"97"	"17"	"48272168"	"48272168"	"subst"	"5.82418E-6"	"03865"	"COL1A1_000761"	"g.48272168G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194807G>A"	""	"likely pathogenic"	""
"0000705479"	"20"	"99"	"17"	"48272168"	"48272168"	"del"	"0"	"03879"	"COL1A1_000860"	"g.48272168del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194807del"	""	"pathogenic"	""
"0000705480"	"20"	"99"	"17"	"48272168"	"48272168"	"del"	"0"	"03879"	"COL1A1_000860"	"g.48272168del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194807del"	""	"pathogenic"	""
"0000705481"	"0"	"99"	"17"	"48272168"	"48272168"	"dup"	"0"	"00085"	"COL1A1_000302"	"g.48272168dup"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194807dup"	""	"pathogenic"	""
"0000705482"	"20"	"99"	"17"	"48272163"	"48272163"	"del"	"0"	"00085"	"COL1A1_000773"	"g.48272163del"	""	"{PMID:Chen et al., 2012:22795118}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194802del"	""	"pathogenic"	""
"0000705483"	"0"	"99"	"17"	"48272163"	"48272163"	"del"	"0"	"00085"	"COL1A1_000773"	"g.48272163del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194802del"	""	"pathogenic"	""
"0000705484"	"0"	"95"	"17"	"48272163"	"48272163"	"del"	"0"	"03894"	"COL1A1_000773"	"g.48272163del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705485"	"0"	"99"	"17"	"48272163"	"48272163"	"dup"	"0"	"03870"	"COL1A1_001013"	"g.48272163dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194802dup"	""	"pathogenic"	""
"0000705486"	"0"	"99"	"17"	"48272162"	"48272162"	"subst"	"0"	"00085"	"COL1A1_000089"	"g.48272162C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648340"	"0"	""	""	"g.50194801C>T"	""	"pathogenic"	""
"0000705487"	"0"	"99"	"17"	"48272153"	"48272153"	"subst"	"0"	"00085"	"COL1A1_000090"	"g.48272153C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	"Unknown"	""	"rs72648341"	"0"	""	""	"g.50194792C>T"	""	"pathogenic"	""
"0000705488"	"0"	"95"	"17"	"48272153"	"48272153"	"subst"	"0"	"03894"	"COL1A1_000090"	"g.48272153C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72648341"	"0"	""	""	""	""	"VUS"	""
"0000705489"	"0"	"99"	"17"	"48272152"	"48272152"	"subst"	"0"	"00085"	"COL1A1_000091"	"g.48272152C>T"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72648342"	"0"	""	""	"g.50194791C>T"	""	"pathogenic"	""
"0000705490"	"0"	"99"	"17"	"48272152"	"48272152"	"subst"	"0"	"00085"	"COL1A1_000091"	"g.48272152C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72648342"	"0"	""	""	"g.50194791C>T"	""	"pathogenic"	""
"0000705491"	"0"	"99"	"17"	"48272152"	"48272152"	"subst"	"0"	"03702"	"COL1A1_000091"	"g.48272152C>T"	""	"{PMID:Schönewolf-Greulich et al., 2011:21453639}"	""	""	""	"Unknown"	""	"rs72648342"	"0"	""	""	"g.50194791C>T"	""	"pathogenic"	""
"0000705492"	"0"	"99"	"17"	"48272138"	"48272138"	"subst"	"0"	"00085"	"COL1A1_000526"	"g.48272138G>A"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000705493"	"0"	"99"	"17"	"48272138"	"48272138"	"subst"	"0"	"03855"	"COL1A1_000526"	"g.48272138G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000705494"	"20"	"99"	"17"	"48272138"	"48272138"	"subst"	"0"	"03873"	"COL1A1_000526"	"g.48272138G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000705495"	"0"	"99"	"17"	"48272138"	"48272138"	"subst"	"0"	"00085"	"COL1A1_000526"	"g.48272138G>A"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000705496"	"0"	"99"	"17"	"48272138"	"48272138"	"subst"	"0"	"03878"	"COL1A1_000526"	"g.48272138G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000705497"	"0"	"95"	"17"	"48272138"	"48272138"	"subst"	"0"	"03894"	"COL1A1_000526"	"g.48272138G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705498"	"0"	"99"	"17"	"48272134"	"48272134"	"subst"	"0"	"00085"	"COL1A1_000694"	"g.48272134C>G"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194773C>G"	""	"pathogenic"	""
"0000705499"	"10"	"99"	"17"	"48272134"	"48272134"	"subst"	"0"	"03704"	"COL1A1_000476"	"g.48272134C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194773C>A"	""	"pathogenic"	""
"0000705500"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"00085"	"COL1A1_000094"	"g.48272129G>A"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705501"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"00085"	"COL1A1_000094"	"g.48272129G>A"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705502"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"00085"	"COL1A1_000094"	"g.48272129G>A"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705503"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03853"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705504"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03853"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705505"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03853"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705506"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03855"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705507"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03870"	"COL1A1_000094"	"g.48272129G>A"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705508"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03870"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705509"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03870"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705510"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03870"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705511"	"0"	"99"	"17"	"48272129"	"48272129"	"subst"	"0"	"03870"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Unknown"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000705512"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"00085"	"COL1A1_000093"	"g.48272117C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>T"	""	"pathogenic"	""
"0000705513"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"00085"	"COL1A1_000093"	"g.48272117C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>T"	""	"pathogenic"	""
"0000705514"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"00085"	"COL1A1_000093"	"g.48272117C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>T"	""	"pathogenic"	""
"0000705515"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"00085"	"COL1A1_000093"	"g.48272117C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>T"	""	"pathogenic"	""
"0000705516"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"00085"	"COL1A1_000093"	"g.48272117C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>T"	""	"pathogenic"	""
"0000705517"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"00085"	"COL1A1_000093"	"g.48272117C>T"	""	"{PMID:Suzumori et al., 2011:21450031}"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>T"	""	"pathogenic"	""
"0000705518"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"03704"	"COL1A1_000092"	"g.48272117C>G"	""	"{PMID:Byers et al., 1991:1895312}"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>G"	""	"pathogenic"	""
"0000705519"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"03704"	"COL1A1_000092"	"g.48272117C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>G"	""	"pathogenic"	""
"0000705520"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"03855"	"COL1A1_000092"	"g.48272117C>G"	""	""	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>G"	""	"pathogenic"	""
"0000705521"	"0"	"99"	"17"	"48272117"	"48272117"	"subst"	"0"	"03879"	"COL1A1_000092"	"g.48272117C>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs57377812"	"0"	""	""	"g.50194756C>G"	""	"pathogenic"	""
"0000705522"	"0"	"95"	"17"	"48272117"	"48272117"	"subst"	"0"	"03897"	"COL1A1_001306"	"g.48272117C>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194756C>A"	""	"VUS"	""
"0000705523"	"0"	"99"	"17"	"48272099"	"48272099"	"subst"	"0"	"03704"	"COL1A1_000095"	"g.48272099C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648344"	"0"	""	""	"g.50194738C>T"	""	"pathogenic"	""
"0000705524"	"0"	"99"	"17"	"48272099"	"48272099"	"subst"	"0"	"00085"	"COL1A1_000095"	"g.48272099C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs72648344"	"0"	""	""	"g.50194738C>T"	""	"pathogenic"	""
"0000705525"	"0"	"99"	"17"	"48272098"	"48272098"	"subst"	"0"	"00085"	"COL1A1_000096"	"g.48272098C>G"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Milgrom, personal communication)"	""	""	""	"Unknown"	""	"rs72648345"	"0"	""	""	"g.50194737C>G"	""	"pathogenic"	""
"0000705526"	"0"	"95"	"17"	"48272092"	"48272092"	"del"	"0"	"03894"	"COL1A1_001107"	"g.48272092del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705527"	"0"	"99"	"17"	"48272091"	"48272091"	"del"	"0"	"00085"	"COL1A1_000303"	"g.48272091del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72648346"	"0"	""	""	"g.50194730del"	""	"pathogenic"	""
"0000705528"	"0"	"99"	"17"	"48272081"	"48272081"	"subst"	"0"	"03870"	"COL1A1_001014"	"g.48272081C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194720C>T"	""	"pathogenic"	""
"0000705529"	"0"	"95"	"17"	"48272081"	"48272081"	"subst"	"0"	"03894"	"COL1A1_001014"	"g.48272081C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705530"	"0"	"99"	"17"	"48272081"	"48272081"	"subst"	"0"	"00085"	"COL1A1_000406"	"g.48272081C>G"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72648347"	"0"	""	""	"g.50194720C>G"	""	"pathogenic"	""
"0000705531"	"0"	"99"	"17"	"48272081"	"48272081"	"subst"	"0"	"03870"	"COL1A1_000406"	"g.48272081C>G"	""	""	""	""	""	"Unknown"	""	"rs72648347"	"0"	""	""	"g.50194720C>G"	""	"pathogenic"	""
"0000705532"	"0"	"99"	"17"	"48271989"	"48271989"	"subst"	"0"	"03870"	"COL1A1_001015"	"g.48271989T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194628T>C"	""	"pathogenic"	""
"0000705533"	"0"	"99"	"17"	"48271978"	"48271978"	"subst"	"0"	"03870"	"COL1A1_000532"	"g.48271978C>T"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194617C>T"	""	"pathogenic"	""
"0000705534"	"21"	"99"	"17"	"48271978"	"48271978"	"subst"	"0"	"03872"	"COL1A1_000532"	"g.48271978C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194617C>T"	""	"pathogenic"	""
"0000705535"	"11"	"99"	"17"	"48271978"	"48271978"	"subst"	"0"	"03870"	"COL1A1_000532"	"g.48271978C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194617C>T"	""	"pathogenic"	""
"0000705536"	"10"	"99"	"17"	"48271978"	"48271978"	"subst"	"0"	"00085"	"COL1A1_000532"	"g.48271978C>T"	""	"{PMID:Jang et al., 2019:31236376}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194617C>T"	""	"pathogenic"	""
"0000705537"	"0"	"99"	"17"	"48271978"	"48271978"	"subst"	"0"	"00085"	"COL1A1_000097"	"g.48271978C>A"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs72648348"	"0"	""	""	"g.50194617C>A"	""	"pathogenic"	""
"0000705538"	"0"	"99"	"17"	"48271963"	"48271964"	"del"	"0"	"03704"	"COL1A1_000304"	"g.48271963_48271964del"	""	"{PMID:Willing et al., 1994:7942841}"	""	""	""	"Unknown"	""	"rs72648349"	"0"	""	""	"g.50194602_50194603del"	""	"pathogenic"	""
"0000705539"	"0"	"99"	"17"	"48271951"	"48271952"	"dup"	"0"	"03870"	"COL1A1_001016"	"g.48271951_48271952dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194590_50194591dup"	""	"pathogenic"	""
"0000705540"	"0"	"99"	"17"	"48271946"	"48271946"	"del"	"0"	"00085"	"COL1A1_001166"	"g.48271946del"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705541"	"0"	"99"	"17"	"48271946"	"48271946"	"del"	"0"	"00085"	"COL1A1_001166"	"g.48271946del"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705542"	"0"	"99"	"17"	"48271946"	"48271946"	"del"	"0"	"00085"	"COL1A1_001166"	"g.48271946del"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705543"	"0"	"99"	"17"	"48271942"	"48271942"	"subst"	"0"	"03704"	"COL1A1_000098"	"g.48271942C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648350"	"0"	""	""	"g.50194581C>A"	""	"pathogenic"	""
"0000705544"	"0"	"99"	"17"	"48271931"	"48271931"	"subst"	"0"	"00085"	"COL1A1_000407"	"g.48271931T>C"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72648351"	"0"	""	""	"g.50194570T>C"	""	"pathogenic"	""
"0000705545"	"0"	"99"	"17"	"48271931"	"48271931"	"subst"	"0"	"00085"	"COL1A1_000407"	"g.48271931T>C"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72648351"	"0"	""	""	"g.50194570T>C"	""	"pathogenic"	""
"0000705546"	"0"	"99"	"17"	"48271204"	"48271852"	"del"	"0"	"03704"	"COL1A1_000365"	"g.48271204_48271852del"	""	"{PMID:Barsh et al., 1985:3857621}; {PMID:Chu et al., 1985:2981843}"	""	""	""	"Unknown"	""	"rs74315120"	"0"	""	""	"g.50193843_50194491del"	""	"pathogenic"	""
"0000705547"	"0"	"99"	"17"	"48271809"	"48271809"	"subst"	"0"	"00085"	"COL1A1_000408"	"g.48271809C>A"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72648352"	"0"	""	""	"g.50194448C>A"	""	"pathogenic"	""
"0000705548"	"0"	"93"	"17"	"48271802"	"48271802"	"subst"	"1.21888E-5"	"00085"	"COL1A1_001264"	"g.48271802C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705549"	"0"	"99"	"17"	"48271798"	"48271798"	"subst"	"0"	"03704"	"COL1A1_000477"	"g.48271798C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194437C>A"	""	"pathogenic"	""
"0000705550"	"0"	"51"	"17"	"48271776"	"48271776"	"subst"	"0"	"00085"	"COL1A1_000572"	"g.48271776A>G"	""	""	""	""	""	"Unknown"	""	"rs1007085"	"0"	""	""	"g.50194415A>G"	""	"VUS"	""
"0000705551"	"0"	"99"	"17"	"48271762"	"48271762"	"subst"	"0"	"03870"	"COL1A1_001017"	"g.48271762C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194401C>T"	""	"pathogenic"	""
"0000705552"	"0"	"99"	"17"	"48271751"	"48271751"	"del"	"0"	"03870"	"COL1A1_001018"	"g.48271751del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194390del"	""	"pathogenic"	""
"0000705553"	"0"	"99"	"17"	"48271751"	"48271751"	"del"	"0"	"03870"	"COL1A1_001018"	"g.48271751del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194390del"	""	"pathogenic"	""
"0000705554"	"0"	"99"	"17"	"48271751"	"48271751"	"del"	"0"	"03870"	"COL1A1_001018"	"g.48271751del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194390del"	""	"pathogenic"	""
"0000705555"	"0"	"99"	"17"	"48271745"	"48271745"	"subst"	"0"	"00085"	"COL1A1_000099"	"g.48271745C>A"	""	"Cohen et al., 1996b {Localcohen_et_al_1996b.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs72648353"	"0"	""	""	"g.50194384C>A"	""	"pathogenic"	""
"0000705556"	"0"	"99"	"17"	"48271745"	"48271745"	"subst"	"0"	"00085"	"COL1A1_000099"	"g.48271745C>A"	""	"{PMID:Sarafova et al., 1998:9600458}"	""	""	""	"Unknown"	""	"rs72648353"	"0"	""	""	"g.50194384C>A"	""	"pathogenic"	""
"0000705557"	"0"	"99"	"17"	"48271745"	"48271745"	"subst"	"0"	"03855"	"COL1A1_000099"	"g.48271745C>A"	""	""	""	""	""	"Unknown"	""	"rs72648353"	"0"	""	""	"g.50194384C>A"	""	"pathogenic"	""
"0000705558"	"0"	"99"	"17"	"48271744"	"48271744"	"subst"	"0"	"03855"	"COL1A1_000593"	"g.48271744C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194383C>T"	""	"pathogenic"	""
"0000705559"	"0"	"99"	"17"	"48271744"	"48271744"	"subst"	"0"	"00085"	"COL1A1_000100"	"g.48271744C>G"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72648354"	"0"	""	""	"g.50194383C>G"	""	"pathogenic"	""
"0000705560"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Bateman et al., 1992:1445258}"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705561"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Marini et al., 1993:8094076}"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705562"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"Marini et al., 1993 {Localmarini_et_al_1993c.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705563"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03704"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705564"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03704"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705565"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03704"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705566"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705567"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705568"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705569"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03853"	"COL1A1_000102"	"g.48271736C>T"	""	""	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705570"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03702"	"COL1A1_000102"	"g.48271736C>T"	""	""	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705571"	"11"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03872"	"COL1A1_000102"	"g.48271736C>T"	""	""	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705572"	"0"	"95"	"17"	"48271736"	"48271736"	"subst"	"0"	"03894"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	""	""	"VUS"	""
"0000705573"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Mohd Nawawi et al., 2019:29807018}"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000705574"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs67682642"	"0"	""	""	""	""	"VUS"	""
"0000705575"	"0"	"95"	"17"	"48271736"	"48271736"	"subst"	"0"	"03897"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"VUS"	""
"0000705576"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"00085"	"COL1A1_000101"	"g.48271736C>A"	""	"Cohen et al., 1996a {Localcohen_et_al_1996a.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs67682641"	"0"	""	""	"g.50194375C>A"	""	"pathogenic"	""
"0000705577"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03704"	"COL1A1_000101"	"g.48271736C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67682641"	"0"	""	""	"g.50194375C>A"	""	"pathogenic"	""
"0000705578"	"0"	"99"	"17"	"48271736"	"48271736"	"subst"	"0"	"03704"	"COL1A1_000101"	"g.48271736C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67682641"	"0"	""	""	"g.50194375C>A"	""	"pathogenic"	""
"0000705579"	"0"	"99"	"17"	"48271727"	"48271727"	"subst"	"0"	"03704"	"COL1A1_000197"	"g.48271727C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648355"	"0"	""	""	"g.50194366C>A"	""	"pathogenic"	""
"0000705580"	"0"	"99"	"17"	"48271726"	"48271726"	"subst"	"0"	"00085"	"COL1A1_000107"	"g.48271726C>T"	""	"{PMID:Raghunath et al., 1994:7816518}"	""	""	""	"Unknown"	""	"rs72648356"	"0"	""	""	"g.50194365C>T"	""	"pathogenic"	""
"0000705581"	"0"	"99"	"17"	"48271726"	"48271726"	"subst"	"0"	"03865"	"COL1A1_000762"	"g.48271726C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194365C>G"	""	"pathogenic"	""
"0000705582"	"0"	"57"	"17"	"48271723"	"48271723"	"subst"	"0"	"03879"	"COL1A1_000880"	"g.48271723A>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194362A>T"	""	"likely pathogenic"	""
"0000705583"	"0"	"99"	"17"	"48271718"	"48271718"	"subst"	"0"	"03855"	"COL1A1_000594"	"g.48271718C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194357C>G"	""	"pathogenic"	""
"0000705584"	"0"	"99"	"17"	"48271716"	"48271716"	"del"	"0"	"03885"	"COL1A1_000956"	"g.48271716del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194355del"	""	"pathogenic"	""
"0000705585"	"0"	"99"	"17"	"48271691"	"48271722"	"del"	"0"	"03879"	"COL1A1_000879"	"g.48271691_48271722del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194330_50194361del"	""	"pathogenic"	""
"0000705586"	"20"	"99"	"17"	"48271714"	"48271714"	"del"	"0"	"03879"	"COL1A1_000853"	"g.48271714del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194353del"	""	"pathogenic"	""
"0000705587"	"21"	"99"	"17"	"48271714"	"48271714"	"del"	"0"	"03879"	"COL1A1_000853"	"g.48271714del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194353del"	""	"pathogenic"	""
"0000705588"	"0"	"99"	"17"	"48271712"	"48271712"	"del"	"0"	"00085"	"COL1A1_001079"	"g.48271712del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194351del"	""	"pathogenic"	""
"0000705589"	"0"	"99"	"17"	"48271709"	"48271709"	"subst"	"0"	"00085"	"COL1A1_000409"	"g.48271709C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648357"	"0"	""	""	"g.50194348C>T"	""	"pathogenic"	""
"0000705590"	"0"	"99"	"17"	"48271709"	"48271709"	"subst"	"0"	"01819"	"COL1A1_000409"	"g.48271709C>T"	""	""	""	""	""	"Unknown"	""	"rs72648357"	"0"	""	""	"g.50194348C>T"	""	"pathogenic"	""
"0000705591"	"0"	"99"	"17"	"48271709"	"48271709"	"subst"	"0"	"00085"	"COL1A1_000409"	"g.48271709C>T"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	"rs72648357"	"0"	""	""	"g.50194348C>T"	""	"pathogenic"	""
"0000705592"	"0"	"95"	"17"	"48271709"	"48271709"	"subst"	"0"	"03897"	"COL1A1_000409"	"g.48271709C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs72648357"	"0"	""	""	"g.50194348C>T"	""	"VUS"	""
"0000705593"	"0"	"99"	"17"	"48271707"	"48271708"	"delins"	"0"	"00085"	"COL1A1_000410"	"g.48271707_48271708delinsG"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194346_50194347delinsG"	""	"pathogenic"	""
"0000705594"	"0"	"99"	"17"	"48271545"	"48271545"	"subst"	"0"	"00085"	"COL1A1_000917"	"g.48271545C>A"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194184C>A"	""	"pathogenic"	""
"0000705595"	"0"	"97"	"17"	"48271548"	"48271548"	"subst"	"0.00222388"	"00085"	"COL1A1_000411"	"g.48271548G>T"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs41316657"	"0"	""	""	"g.50194187G>T"	""	"likely pathogenic"	""
"0000705596"	"0"	"93"	"17"	"48271548"	"48271548"	"subst"	"0.00222388"	"03882"	"COL1A1_000411"	"g.48271548G>T"	""	""	""	""	""	"Unknown"	""	"rs41316657"	"0"	""	""	"g.50194187G>T"	""	"VUS"	""
"0000705597"	"0"	"99"	"17"	"48271545"	"48271545"	"subst"	"0"	"03853"	"COL1A1_000466"	"g.48271545C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194184C>G"	""	"pathogenic"	""
"0000705598"	"0"	"59"	"17"	"48271529"	"48271537"	"del"	"0"	"00475"	"COL1A1_000638"	"g.48271529_48271537del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194168_50194176del"	""	"pathogenic"	""
"0000705599"	"0"	"99"	"17"	"48271530"	"48271530"	"del"	"0"	"00085"	"COL1A1_001160"	"g.48271530del"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194169del"	""	"pathogenic"	""
"0000705600"	"0"	"99"	"17"	"48271525"	"48271525"	"subst"	"0"	"00085"	"COL1A1_001158"	"g.48271525C>T"	""	"{PMID:Ji et al., 2019:31204718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194164C>T"	""	"pathogenic"	""
"0000705601"	"0"	"99"	"17"	"48271516"	"48271516"	"subst"	"0"	"03704"	"COL1A1_000478"	"g.48271516C>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194155C>G"	""	"pathogenic"	""
"0000705602"	"0"	"99"	"17"	"48271498"	"48271498"	"subst"	"0"	"03704"	"COL1A1_000188"	"g.48271498C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72648358"	"0"	""	""	"g.50194137C>G"	""	"pathogenic"	""
"0000705603"	"0"	"99"	"17"	"48271495"	"48271495"	"subst"	"0"	"00085"	"COL1A1_000119"	"g.48271495G>C"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72648359"	"0"	""	""	"g.50194134G>C"	""	"pathogenic"	""
"0000705604"	"0"	"99"	"17"	"48271497"	"48271497"	"del"	"0"	"00085"	"COL1A1_000916"	"g.48271497del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194136del"	""	"pathogenic"	""
"0000705605"	"0"	"99"	"17"	"48271497"	"48271497"	"del"	"0"	"03870"	"COL1A1_000916"	"g.48271497del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194136del"	""	"pathogenic"	""
"0000705606"	"0"	"99"	"17"	"48271497"	"48271497"	"del"	"0"	"03870"	"COL1A1_000916"	"g.48271497del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194136del"	""	"pathogenic"	""
"0000705607"	"0"	"99"	"17"	"48271497"	"48271497"	"dup"	"0"	"00085"	"COL1A1_000305"	"g.48271497dup"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72648361"	"0"	""	""	"g.50194136dup"	""	"pathogenic"	""
"0000705608"	"0"	"99"	"17"	"48271497"	"48271497"	"dup"	"0"	"00085"	"COL1A1_000305"	"g.48271497dup"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72648361"	"0"	""	""	"g.50194136dup"	""	"pathogenic"	""
"0000705609"	"0"	"99"	"17"	"48271497"	"48271497"	"dup"	"0"	"03870"	"COL1A1_000305"	"g.48271497dup"	""	""	""	""	""	"Unknown"	""	"rs72648361"	"0"	""	""	"g.50194136dup"	""	"pathogenic"	""
"0000705610"	"0"	"99"	"17"	"48271491"	"48271491"	"del"	"0"	"00085"	"COL1A1_000306"	"g.48271491del"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72648360"	"0"	""	""	"g.50194130del"	""	"pathogenic"	""
"0000705611"	"0"	"99"	"17"	"48271491"	"48271491"	"del"	"0"	"03855"	"COL1A1_000306"	"g.48271491del"	""	""	""	""	""	"Unknown"	""	"rs72648360"	"0"	""	""	"g.50194130del"	""	"pathogenic"	""
"0000705612"	"0"	"99"	"17"	"48271404"	"48271404"	"subst"	"0"	"00085"	"COL1A1_000413"	"g.48271404T>C"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72648362"	"0"	""	""	"g.50194043T>C"	""	"pathogenic"	""
"0000705613"	"0"	"99"	"17"	"48271403"	"48271403"	"subst"	"0"	"03870"	"COL1A1_000684"	"g.48271403C>G"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194042C>G"	""	"pathogenic"	""
"0000705614"	"0"	"99"	"17"	"48271396"	"48271396"	"del"	"0"	"03897"	"COL1A1_001301"	"g.48271396del"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194035del"	""	"pathogenic"	""
"0000705615"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705616"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03704"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705617"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03704"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705618"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705619"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705620"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705621"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705622"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705623"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Reis et al., 2005:15741671}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705624"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Cui et al., 2009:19751715}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705625"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03870"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705626"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"01819"	"COL1A1_000110"	"g.48271393C>T"	""	""	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705627"	"0"	"79"	"17"	"48271393"	"48271393"	"subst"	"0"	"03867"	"COL1A1_000110"	"g.48271393C>T"	""	""	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705628"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705629"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03879"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705630"	"21"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03879"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705631"	"21"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03879"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705632"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Taillandier et al., 2015:26432670}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705633"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03870"	"COL1A1_000110"	"g.48271393C>T"	""	""	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000705634"	"0"	"95"	"17"	"48271393"	"48271393"	"subst"	"0"	"03894"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	""	""	"VUS"	""
"0000705635"	"0"	"95"	"17"	"48271393"	"48271393"	"subst"	"0"	"03894"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	""	""	"VUS"	""
"0000705636"	"0"	"95"	"17"	"48271393"	"48271393"	"subst"	"0"	"03894"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67507748"	"0"	""	""	""	""	"VUS"	""
"0000705637"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000109"	"g.48271393C>G"	""	"{PMID:Cohen-Solal et al., 1996:8799376}"	""	""	""	"Unknown"	""	"rs67507747"	"0"	""	""	"g.50194032C>G"	""	"pathogenic"	""
"0000705638"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03704"	"COL1A1_000114"	"g.48271393C>A"	""	"{PMID:Byers, 1990:2238087}"	""	""	""	"Unknown"	""	"rs67507749"	"0"	""	""	"g.50194032C>A"	""	"pathogenic"	""
"0000705639"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03704"	"COL1A1_000114"	"g.48271393C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67507749"	"0"	""	""	"g.50194032C>A"	""	"pathogenic"	""
"0000705640"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"03704"	"COL1A1_000114"	"g.48271393C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67507749"	"0"	""	""	"g.50194032C>A"	""	"pathogenic"	""
"0000705641"	"0"	"99"	"17"	"48271393"	"48271393"	"subst"	"0"	"00085"	"COL1A1_000114"	"g.48271393C>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs67507749"	"0"	""	""	""	""	"VUS"	""
"0000705642"	"0"	"99"	"17"	"48271375"	"48271375"	"subst"	"0"	"00085"	"COL1A1_000121"	"g.48271375C>T"	""	"{PMID:Galicka et al., 2002:12362986}"	""	""	""	"Unknown"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic"	""
"0000705643"	"0"	"99"	"17"	"48271375"	"48271375"	"subst"	"0"	"00085"	"COL1A1_000121"	"g.48271375C>T"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic"	""
"0000705644"	"0"	"99"	"17"	"48271375"	"48271375"	"subst"	"0"	"00085"	"COL1A1_000121"	"g.48271375C>T"	""	"{PMID:Marini et al., 2007:17078022} (Mottes, personal communication)"	""	""	""	"Unknown"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic"	""
"0000705645"	"0"	"99"	"17"	"48271375"	"48271375"	"subst"	"0"	"03704"	"COL1A1_000121"	"g.48271375C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic"	""
"0000705646"	"0"	"59"	"17"	"48271375"	"48271375"	"subst"	"0"	"03855"	"COL1A1_000121"	"g.48271375C>T"	""	""	""	""	""	"Unknown"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic"	""
"0000705647"	"0"	"99"	"17"	"48271375"	"48271375"	"subst"	"0"	"01819"	"COL1A1_000121"	"g.48271375C>T"	""	""	""	""	""	"Unknown"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic"	""
"0000705648"	"0"	"99"	"17"	"48271375"	"48271375"	"subst"	"0"	"00085"	"COL1A1_000121"	"g.48271375C>T"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic"	""
"0000705649"	"0"	"99"	"17"	"48271375"	"48271375"	"subst"	"0"	"00085"	"COL1A1_000122"	"g.48271375C>G"	""	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	"Unknown"	""	"rs67416838"	"0"	""	""	"g.50194014C>G"	""	"pathogenic"	""
"0000705650"	"0"	"99"	"17"	"48271366"	"48271366"	"subst"	"0"	"00085"	"COL1A1_000123"	"g.48271366C>G"	""	"{PMID:Bateman et al., 1987:3108247}"	""	""	""	"Unknown"	""	"rs72648363"	"0"	""	""	"g.50194005C>G"	""	"pathogenic"	""
"0000705651"	"0"	"99"	"17"	"48271365"	"48271365"	"subst"	"0"	"03855"	"COL1A1_000595"	"g.48271365C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50194004C>T"	""	"pathogenic"	""
"0000705652"	"0"	"99"	"17"	"48271357"	"48271357"	"subst"	"0"	"03870"	"COL1A1_000576"	"g.48271357C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193996C>G"	""	"pathogenic"	""
"0000705653"	"0"	"99"	"17"	"48271352"	"48271353"	"ins"	"0"	"00085"	"COL1A1_000308"	"g.48271352_48271353insTG"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72648364"	"0"	""	""	"g.50193991_50193992insTG"	""	"pathogenic"	""
"0000705654"	"0"	"99"	"17"	"48271352"	"48271353"	"ins"	"0"	"03870"	"COL1A1_000308"	"g.48271352_48271353insTG"	""	""	""	""	""	"Unknown"	""	"rs72648364"	"0"	""	""	"g.50193991_50193992insTG"	""	"pathogenic"	""
"0000705655"	"0"	"99"	"17"	"48271352"	"48271353"	"ins"	"0"	"03870"	"COL1A1_000308"	"g.48271352_48271353insTG"	""	""	""	""	""	"Unknown"	""	"rs72648364"	"0"	""	""	"g.50193991_50193992insTG"	""	"pathogenic"	""
"0000705656"	"0"	"99"	"17"	"48271352"	"48271353"	"ins"	"0"	"03870"	"COL1A1_000308"	"g.48271352_48271353insTG"	""	""	""	""	""	"Unknown"	""	"rs72648364"	"0"	""	""	"g.50193991_50193992insTG"	""	"pathogenic"	""
"0000705657"	"0"	"99"	"17"	"48271351"	"48271351"	"subst"	"8.12361E-6"	"00085"	"COL1A1_000127"	"g.48271351G>A"	""	"{PMID:Malfait et al., 2007:17211858}"	""	""	""	"Unknown"	""	"rs72648365"	"0"	""	""	"g.50193990G>A"	""	"pathogenic"	""
"0000705658"	"11"	"99"	"17"	"48271345"	"48271345"	"subst"	"0"	"00475"	"COL1A1_000639"	"g.48271345G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193984G>A"	""	"pathogenic"	""
"0000705659"	"0"	"99"	"17"	"48271339"	"48271339"	"subst"	"0"	"03702"	"COL1A1_000663"	"g.48271339C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193978C>T"	""	"pathogenic"	""
"0000705660"	"0"	"99"	"17"	"48271330"	"48271330"	"subst"	"0"	"00085"	"COL1A1_000128"	"g.48271330C>T"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72648366"	"0"	""	""	"g.50193969C>T"	""	"pathogenic"	""
"0000705661"	"0"	"99"	"17"	"48271312"	"48271312"	"subst"	"0"	"00085"	"COL1A1_000124"	"g.48271312C>T"	""	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	"Unknown"	""	"rs72648367"	"0"	""	""	"g.50193951C>T"	""	"pathogenic"	""
"0000705662"	"0"	"99"	"17"	"48271311"	"48271311"	"subst"	"0"	"00085"	"COL1A1_000125"	"g.48271311C>G"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs72648368"	"0"	""	""	"g.50193950C>G"	""	"pathogenic"	""
"0000705663"	"0"	"99"	"17"	"48271306"	"48271307"	"ins"	"0"	"03885"	"COL1A1_000957"	"g.48271306_48271307insTTGACCTGTGAGC"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193945_50193946insTTGACCTGTGAGC"	""	"pathogenic"	""
"0000705664"	"0"	"99"	"17"	"48271299"	"48271299"	"subst"	"0"	"03882"	"COL1A1_000926"	"g.48271299C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193938C>T"	""	"pathogenic"	""
"0000705665"	"0"	"99"	"17"	"48271299"	"48271299"	"subst"	"0"	"03897"	"COL1A1_000926"	"g.48271299C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50193938C>T"	""	"pathogenic"	""
"0000705666"	"0"	"99"	"17"	"48271299"	"48271299"	"subst"	"0"	"00085"	"COL1A1_000412"	"g.48271299C>G"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648369"	"0"	""	""	"g.50193938C>G"	""	"pathogenic"	""
"0000705667"	"0"	"99"	"17"	"48270409"	"48270409"	"subst"	"0"	"00085"	"COL1A1_000414"	"g.48270409C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72648370"	"0"	""	""	"g.50193048C>T"	""	"pathogenic"	""
"0000705668"	"0"	"99"	"17"	"48270409"	"48270409"	"subst"	"0"	"00085"	"COL1A1_000414"	"g.48270409C>T"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72648370"	"0"	""	""	"g.50193048C>T"	""	"pathogenic"	""
"0000705669"	"0"	"99"	"17"	"48270409"	"48270409"	"subst"	"0"	"00085"	"COL1A1_000414"	"g.48270409C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72648370"	"0"	""	""	"g.50193048C>T"	""	"pathogenic"	""
"0000705670"	"0"	"95"	"17"	"48270405"	"48270405"	"subst"	"0"	"03894"	"COL1A1_001114"	"g.48270405C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705671"	"0"	"99"	"17"	"48270399"	"48270399"	"subst"	"0"	"00085"	"COL1A1_000129"	"g.48270399C>T"	""	"{PMID:Bateman et al., 1992:1445258}"	""	""	""	"Unknown"	""	"rs66527965"	"0"	""	""	"g.50193038C>T"	""	"pathogenic"	""
"0000705672"	"0"	"99"	"17"	"48270399"	"48270399"	"subst"	"0"	"00085"	"COL1A1_000129"	"g.48270399C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	"Unknown"	""	"rs66527965"	"0"	""	""	"g.50193038C>T"	""	"pathogenic"	""
"0000705673"	"0"	"99"	"17"	"48270399"	"48270399"	"subst"	"0"	"00085"	"COL1A1_000129"	"g.48270399C>T"	""	"{PMID:Mottes et al., 1993:8364588}"	""	""	""	"Unknown"	""	"rs66527965"	"0"	""	""	"g.50193038C>T"	""	"pathogenic"	""
"0000705674"	"0"	"99"	"17"	"48270399"	"48270399"	"subst"	"0"	"03890"	"COL1A1_001065"	"g.48270399C>G"	""	"Mornet E, personal communication"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705675"	"0"	"59"	"17"	"48270399"	"48270399"	"subst"	"0"	"03890"	"COL1A1_001065"	"g.48270399C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705676"	"0"	"99"	"17"	"48270399"	"48270399"	"subst"	"0"	"00085"	"COL1A1_000126"	"g.48270399C>A"	""	"{PMID:Nicholls et al., 1991:1770532}"	""	""	""	"Unknown"	""	"rs66527965"	"0"	""	""	"g.50193038C>A"	""	"pathogenic"	""
"0000705677"	"0"	"99"	"17"	"48270399"	"48270399"	"subst"	"0"	"03704"	"COL1A1_000126"	"g.48270399C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66527965"	"0"	""	""	"g.50193038C>A"	""	"pathogenic"	""
"0000705678"	"21"	"99"	"17"	"48270398"	"48270398"	"subst"	"0"	"03704"	"COL1A1_000130"	"g.48270398C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651613"	"0"	""	""	"g.50193037C>T"	""	"pathogenic"	""
"0000705679"	"0"	"99"	"17"	"48270398"	"48270398"	"subst"	"0"	"03855"	"COL1A1_000596"	"g.48270398C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193037C>A"	""	"pathogenic"	""
"0000705680"	"0"	"99"	"17"	"48270390"	"48270390"	"del"	"0"	"03885"	"COL1A1_000958"	"g.48270390del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193029del"	""	"pathogenic"	""
"0000705681"	"0"	"99"	"17"	"48270389"	"48270389"	"subst"	"0"	"00085"	"COL1A1_001267"	"g.48270389C>G"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705682"	"0"	"99"	"17"	"48270387"	"48270387"	"subst"	"0"	"03870"	"COL1A1_000575"	"g.48270387C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193026C>A"	""	"pathogenic"	""
"0000705683"	"0"	"95"	"17"	"48270387"	"48270387"	"subst"	"0"	"03897"	"COL1A1_000575"	"g.48270387C>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50193026C>A"	""	"VUS"	""
"0000705684"	"0"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"00085"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Siegert et al., 2004:15106082}"	""	""	""	"Unknown"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic"	""
"0000705685"	"0"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03870"	"COL1A1_000133"	"g.48270384G>A"	""	""	""	""	""	"Unknown"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic"	""
"0000705686"	"11"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03861"	"COL1A1_000133"	"g.48270384G>A"	""	""	""	""	""	"Unknown"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic"	""
"0000705687"	"0"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03879"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic"	""
"0000705688"	"11"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03879"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic"	""
"0000705689"	"11"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"00085"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Duan et al., 2016:27044453}"	""	""	""	"Unknown"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic"	""
"0000705690"	"0"	"99"	"17"	"48270384"	"48270384"	"subst"	"0"	"03870"	"COL1A1_000133"	"g.48270384G>A"	""	""	""	""	""	"Unknown"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic"	""
"0000705691"	"11"	"99"	"17"	"48270377"	"48270377"	"del"	"0"	"03891"	"COL1A1_001069"	"g.48270377del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193016del"	""	"pathogenic"	""
"0000705692"	"0"	"11"	"17"	"48270373"	"48270373"	"subst"	"0.00759064"	"00085"	"COL1A1_000502"	"g.48270373G>A"	""	"{PMID:Mirandola et al., 2000:11090261}  {PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193012G>A"	""	"likely benign"	""
"0000705693"	"0"	"99"	"17"	"48270372"	"48270372"	"subst"	"0"	"03702"	"COL1A1_000134"	"g.48270372C>T"	""	""	""	""	""	"Unknown"	""	"rs72651615"	"0"	""	""	"g.50193011C>T"	""	"pathogenic"	""
"0000705694"	"0"	"99"	"17"	"48270372"	"48270372"	"subst"	"0"	"03704"	"COL1A1_000134"	"g.48270372C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72651615"	"0"	""	""	"g.50193011C>T"	""	"pathogenic"	""
"0000705695"	"0"	"99"	"17"	"48270372"	"48270372"	"subst"	"0"	"03704"	"COL1A1_000134"	"g.48270372C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72651615"	"0"	""	""	"g.50193011C>T"	""	"pathogenic"	""
"0000705696"	"0"	"99"	"17"	"48270372"	"48270372"	"subst"	"0"	"00085"	"COL1A1_000134"	"g.48270372C>T"	""	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	"Unknown"	""	"rs72651615"	"0"	""	""	"g.50193011C>T"	""	"pathogenic"	""
"0000705697"	"0"	"99"	"17"	"48270372"	"48270372"	"subst"	"0"	"00085"	"COL1A1_000134"	"g.48270372C>T"	""	"{PMID: van Dijk et al, 2011:22570641}"	""	""	""	"Unknown"	""	"rs72651615"	"0"	""	""	"g.50193011C>T"	""	"pathogenic"	""
"0000705698"	"0"	"99"	"17"	"48270372"	"48270372"	"subst"	"0"	"03882"	"COL1A1_000927"	"g.48270372C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193011C>A"	""	"pathogenic"	""
"0000705699"	"0"	"99"	"17"	"48270372"	"48270372"	"subst"	"0"	"03870"	"COL1A1_000927"	"g.48270372C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193011C>A"	""	"pathogenic"	""
"0000705700"	"11"	"99"	"17"	"48270364"	"48270364"	"del"	"0"	"03871"	"COL1A1_000782"	"g.48270364del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193003del"	""	"pathogenic"	""
"0000705701"	"11"	"99"	"17"	"48270364"	"48270364"	"del"	"0"	"03871"	"COL1A1_000782"	"g.48270364del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193003del"	""	"pathogenic"	""
"0000705702"	"11"	"99"	"17"	"48270364"	"48270364"	"del"	"0"	"03871"	"COL1A1_000782"	"g.48270364del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193003del"	""	"pathogenic"	""
"0000705703"	"0"	"99"	"17"	"48270363"	"48270363"	"del"	"0"	"00085"	"COL1A1_000310"	"g.48270363del"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72651616"	"0"	""	""	"g.50193002del"	""	"pathogenic"	""
"0000705704"	"0"	"99"	"17"	"48270362"	"48270362"	"subst"	"0"	"03704"	"COL1A1_000479"	"g.48270362C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50193001C>T"	""	"pathogenic"	""
"0000705705"	"10"	"99"	"17"	"48270360"	"48270360"	"del"	"0"	"03897"	"COL1A1_001302"	"g.48270360del"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192999del"	""	"pathogenic"	""
"0000705706"	"0"	"11"	"17"	"48270355"	"48270355"	"subst"	"0.00185274"	"00085"	"COL1A1_000508"	"g.48270355G>A"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41316667"	"0"	""	""	"g.50192994G>A"	""	"likely benign"	""
"0000705707"	"0"	"51"	"17"	"48270355"	"48270355"	"subst"	"0.00185274"	"00085"	"COL1A1_000508"	"g.48270355G>A"	""	""	""	""	""	"Unknown"	""	"rs41316667"	"0"	""	""	"g.50192994G>A"	""	"VUS"	""
"0000705708"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705709"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705710"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705711"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705712"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Stover et al., 1993:8408653}"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705713"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705714"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Johnson et al., 2000:10931857}"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705715"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Qin et al., 2005:15931785}"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705716"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03870"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705717"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03870"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705718"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03871"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705719"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03871"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705720"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03879"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705721"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03870"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705722"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03870"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705723"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03870"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705724"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03870"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705725"	"0"	"95"	"17"	"48270354"	"48270354"	"subst"	"0"	"03894"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	""	""	"VUS"	""
"0000705726"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"03897"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000705727"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	""	"Unknown"	""	"rs66555264"	"0"	""	""	""	""	"VUS"	""
"0000705728"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000416"	"g.48270354C>A"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs66555266"	"0"	""	""	"g.50192993C>A"	""	"pathogenic"	""
"0000705729"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00085"	"COL1A1_000416"	"g.48270354C>A"	""	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	"Unknown"	""	"rs66555266"	"0"	""	""	"g.50192993C>A"	""	"pathogenic"	""
"0000705730"	"0"	"99"	"17"	"48270351"	"48270354"	"del"	"0"	"03870"	"COL1A1_001020"	"g.48270351_48270354del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192990_50192993del"	""	"pathogenic"	""
"0000705731"	"0"	"99"	"17"	"48270213"	"48270213"	"subst"	"0"	"03704"	"COL1A1_000418"	"g.48270213T>G"	""	"{PMID:Byers, 1990:2238087}"	""	""	""	"Unknown"	""	"rs72651617"	"0"	""	""	"g.50192852T>G"	""	"pathogenic"	""
"0000705732"	"0"	"99"	"17"	"48270213"	"48270213"	"subst"	"0"	"03704"	"COL1A1_000418"	"g.48270213T>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651617"	"0"	""	""	"g.50192852T>G"	""	"pathogenic"	""
"0000705733"	"0"	"99"	"17"	"48270213"	"48270213"	"subst"	"0"	"03855"	"COL1A1_000597"	"g.48270213T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192852T>C"	""	"pathogenic"	""
"0000705734"	"0"	"99"	"17"	"48270212"	"48270212"	"subst"	"0"	"03879"	"COL1A1_000849"	"g.48270212C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192851C>T"	""	"pathogenic"	""
"0000705735"	"0"	"95"	"17"	"48270193"	"48270193"	"subst"	"0"	"00085"	"COL1A1_001163"	"g.48270193C>T"	""	"{PMID:Alhousseini et al., 2019:30408804}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705736"	"0"	"99"	"17"	"48270193"	"48270193"	"subst"	"0"	"03704"	"COL1A1_000480"	"g.48270193C>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192832C>G"	""	"pathogenic"	""
"0000705737"	"0"	"99"	"17"	"48270186"	"48270188"	"del"	"0"	"00085"	"COL1A1_000311"	"g.48270186_48270188del"	""	"{PMID:Lund et al., 1996:9007315}"	""	""	""	"Unknown"	""	"rs72651618"	"0"	""	""	"g.50192825_50192827del"	""	"pathogenic"	""
"0000705738"	"0"	"99"	"17"	"48270184"	"48270184"	"subst"	"0"	"00085"	"COL1A1_000131"	"g.48270184C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651619"	"0"	""	""	"g.50192823C>T"	""	"pathogenic"	""
"0000705739"	"0"	"99"	"17"	"48270172"	"48270172"	"del"	"0"	"00085"	"COL1A1_000312"	"g.48270172del"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72651620"	"0"	""	""	"g.50192811del"	""	"pathogenic"	""
"0000705740"	"0"	"99"	"17"	"48270172"	"48270172"	"del"	"0"	"03870"	"COL1A1_000312"	"g.48270172del"	""	""	""	""	""	"Unknown"	""	"rs72651620"	"0"	""	""	"g.50192811del"	""	"pathogenic"	""
"0000705741"	"0"	"99"	"17"	"48270167"	"48270167"	"del"	"0"	"00085"	"COL1A1_000313"	"g.48270167del"	""	"{PMID:Redford-Badwal et al., 1996:8613526}"	""	""	""	"Unknown"	""	"rs72651621"	"0"	""	""	"g.50192806del"	""	"pathogenic"	""
"0000705742"	"0"	"79"	"17"	"48270167"	"48270167"	"del"	"0"	"03867"	"COL1A1_000313"	"g.48270167del"	""	""	""	""	""	"Unknown"	""	"rs72651621"	"0"	""	""	"g.50192806del"	""	"pathogenic"	""
"0000705743"	"0"	"99"	"17"	"48270167"	"48270167"	"del"	"0"	"00085"	"COL1A1_000313"	"g.48270167del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72651621"	"0"	""	""	""	""	"VUS"	""
"0000705744"	"0"	"99"	"17"	"48270157"	"48270157"	"subst"	"0"	"00085"	"COL1A1_000233"	"g.48270157C>T"	""	"{PMID:Xia et al., 2008:18755172}"	""	""	""	"Unknown"	""	"rs72651622"	"0"	""	""	"g.50192796C>T"	""	"pathogenic"	""
"0000705745"	"0"	"99"	"17"	"48270157"	"48270157"	"subst"	"0"	"00085"	"COL1A1_000233"	"g.48270157C>T"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	"rs72651622"	"0"	""	""	"g.50192796C>T"	""	"pathogenic"	""
"0000705746"	"11"	"99"	"17"	"48270157"	"48270157"	"subst"	"0"	"03872"	"COL1A1_000233"	"g.48270157C>T"	""	""	""	""	""	"Unknown"	""	"rs72651622"	"0"	""	""	"g.50192796C>T"	""	"pathogenic"	""
"0000705747"	"0"	"99"	"17"	"48270157"	"48270157"	"subst"	"0"	"00085"	"COL1A1_000233"	"g.48270157C>T"	""	"{PMID:Vora et al., 2017:28518170}"	""	""	""	"Unknown"	""	"rs72651622"	"0"	""	""	"g.50192796C>T"	""	"pathogenic"	""
"0000705748"	"0"	"99"	"17"	"48270157"	"48270157"	"subst"	"0"	"00085"	"COL1A1_000516"	"g.48270157C>G"	""	"{PMID:Barbirato et al., 2009:19283684}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192796C>G"	""	"pathogenic"	""
"0000705749"	"0"	"99"	"17"	"48270157"	"48270157"	"subst"	"0"	"03855"	"COL1A1_000516"	"g.48270157C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192796C>G"	""	"pathogenic"	""
"0000705750"	"0"	"99"	"17"	"48270155"	"48270155"	"subst"	"4.4686E-5"	"03870"	"COL1A1_001021"	"g.48270155C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192794C>A"	""	"pathogenic"	""
"0000705751"	"0"	"99"	"17"	"48270056"	"48270056"	"subst"	"0"	"00085"	"COL1A1_000419"	"g.48270056T>C"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs67891210"	"0"	""	""	"g.50192695T>C"	""	"pathogenic"	""
"0000705752"	"0"	"99"	"17"	"48270056"	"48270056"	"subst"	"0"	"00085"	"COL1A1_000419"	"g.48270056T>C"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs67891210"	"0"	""	""	"g.50192695T>C"	""	"pathogenic"	""
"0000705753"	"0"	"99"	"17"	"48270056"	"48270056"	"del"	"0"	"00085"	"COL1A1_000420"	"g.48270056del"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs67891211"	"0"	""	""	"g.50192695del"	""	"pathogenic"	""
"0000705754"	"0"	"99"	"17"	"48270055"	"48270056"	"inv"	"0"	"00085"	"COL1A1_000535"	"g.48270055_48270056inv"	""	"{PMID:Wang et al., 2009:19491628}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192694_50192695inv"	""	"pathogenic"	""
"0000705755"	"0"	"99"	"17"	"48270055"	"48270055"	"subst"	"0"	"00085"	"COL1A1_000421"	"g.48270055C>G"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72651623"	"0"	""	""	"g.50192694C>G"	""	"pathogenic"	""
"0000705756"	"0"	"99"	"17"	"48270054"	"48270054"	"subst"	"0"	"00085"	"COL1A1_000150"	"g.48270054C>T"	""	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	"Unknown"	""	"rs68181175"	"0"	""	""	"g.50192693C>T"	""	"pathogenic"	""
"0000705757"	"0"	"99"	"17"	"48270054"	"48270054"	"subst"	"0"	"03704"	"COL1A1_000150"	"g.48270054C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs68181175"	"0"	""	""	"g.50192693C>T"	""	"pathogenic"	""
"0000705758"	"0"	"99"	"17"	"48270054"	"48270054"	"subst"	"0"	"00085"	"COL1A1_000150"	"g.48270054C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs68181175"	"0"	""	""	"g.50192693C>T"	""	"pathogenic"	""
"0000705759"	"0"	"99"	"17"	"48270054"	"48270054"	"subst"	"0"	"00085"	"COL1A1_000132"	"g.48270054C>A"	""	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	"Unknown"	""	"rs68181176"	"0"	""	""	"g.50192693C>A"	""	"pathogenic"	""
"0000705760"	"0"	"99"	"17"	"48270054"	"48270054"	"subst"	"0"	"00085"	"COL1A1_000132"	"g.48270054C>A"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs68181176"	"0"	""	""	"g.50192693C>A"	""	"pathogenic"	""
"0000705761"	"0"	"99"	"17"	"48270054"	"48270054"	"subst"	"0"	"03704"	"COL1A1_000132"	"g.48270054C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs68181176"	"0"	""	""	"g.50192693C>A"	""	"pathogenic"	""
"0000705762"	"0"	"99"	"17"	"48270045"	"48270045"	"subst"	"0"	"00085"	"COL1A1_000154"	"g.48270045C>T"	""	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	"Unknown"	""	"rs66489345"	"0"	""	""	"g.50192684C>T"	""	"pathogenic"	""
"0000705763"	"0"	"99"	"17"	"48270045"	"48270045"	"subst"	"0"	"03704"	"COL1A1_000154"	"g.48270045C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66489345"	"0"	""	""	"g.50192684C>T"	""	"pathogenic"	""
"0000705764"	"0"	"99"	"17"	"48270045"	"48270045"	"del"	"0"	"00085"	"COL1A1_000314"	"g.48270045del"	""	"{PMID:Reis et al., 2005:15741671}"	""	""	""	"Unknown"	""	"rs66489346"	"0"	""	""	"g.50192684del"	""	"pathogenic"	""
"0000705765"	"0"	"99"	"17"	"48270041"	"48270042"	"del"	"0"	"00085"	"COL1A1_000695"	"g.48270041_48270042del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192680_50192681del"	""	"pathogenic"	""
"0000705766"	"0"	"99"	"17"	"48270036"	"48270036"	"subst"	"0"	"00085"	"COL1A1_000430"	"g.48270036C>T"	""	"Viana et al., 2007 Proceedings of the 8th World Congress of Perinatal Medicine, pp 799-802."	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192675C>T"	""	"pathogenic"	""
"0000705767"	"0"	"99"	"17"	"48270036"	"48270036"	"subst"	"0"	"01819"	"COL1A1_000430"	"g.48270036C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192675C>T"	""	"pathogenic"	""
"0000705768"	"0"	"99"	"17"	"48270034"	"48270035"	"del"	"0"	"00085"	"COL1A1_000779"	"g.48270034_48270035del"	""	"{NewASHG2010:20438:Gu et al., 2010}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192673_50192674del"	""	"pathogenic"	""
"0000705769"	"0"	"99"	"17"	"48270033"	"48270033"	"subst"	"0"	"03897"	"COL1A1_001223"	"g.48270033C>A"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192672C>A"	""	"pathogenic"	""
"0000705770"	"0"	"99"	"17"	"48270030"	"48270030"	"subst"	"0"	"00085"	"COL1A1_001159"	"g.48270030G>A"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192669G>A"	""	"pathogenic"	""
"0000705771"	"0"	"99"	"17"	"48270027"	"48270027"	"subst"	"0"	"00085"	"COL1A1_000136"	"g.48270027C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs72651624"	"0"	""	""	"g.50192666C>T"	""	"pathogenic"	""
"0000705772"	"0"	"99"	"17"	"48270017"	"48270017"	"subst"	"0"	"03865"	"COL1A1_000763"	"g.48270017C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192656C>G"	""	"pathogenic"	""
"0000705773"	"0"	"99"	"17"	"48270017"	"48270017"	"subst"	"0"	"03865"	"COL1A1_000763"	"g.48270017C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192656C>G"	""	"pathogenic"	""
"0000705774"	"0"	"99"	"17"	"48270017"	"48270017"	"subst"	"0"	"00085"	"COL1A1_000148"	"g.48270017C>A"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72651625"	"0"	""	""	"g.50192656C>A"	""	"pathogenic"	""
"0000705775"	"0"	"99"	"17"	"48270014"	"48270014"	"dup"	"0"	"00085"	"COL1A1_000315"	"g.48270014dup"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192653dup"	""	"pathogenic"	""
"0000705776"	"0"	"99"	"17"	"48270014"	"48270014"	"dup"	"0"	"03870"	"COL1A1_000315"	"g.48270014dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192653dup"	""	"pathogenic"	""
"0000705777"	"0"	"99"	"17"	"48270003"	"48270003"	"subst"	"0"	"03855"	"COL1A1_000598"	"g.48270003G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192642G>A"	""	"pathogenic"	""
"0000705778"	"21"	"99"	"17"	"48269891"	"48269891"	"subst"	"0"	"03870"	"COL1A1_000468"	"g.48269891T>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192530T>G"	""	"pathogenic"	""
"0000705779"	"0"	"99"	"17"	"48269891"	"48269891"	"subst"	"0"	"00085"	"COL1A1_000468"	"g.48269891T>G"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705780"	"0"	"99"	"17"	"48269891"	"48269891"	"subst"	"0"	"03870"	"COL1A1_001022"	"g.48269891T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192530T>C"	""	"pathogenic"	""
"0000705781"	"0"	"99"	"17"	"48269880"	"48269880"	"subst"	"0"	"00085"	"COL1A1_000170"	"g.48269880C>T"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72651627"	"0"	""	""	"g.50192519C>T"	""	"pathogenic"	""
"0000705782"	"0"	"99"	"17"	"48269875"	"48269875"	"del"	"0"	"00085"	"COL1A1_000316"	"g.48269875del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72651628"	"0"	""	""	"g.50192514del"	""	"pathogenic"	""
"0000705783"	"0"	"99"	"17"	"48269871"	"48269871"	"subst"	"0"	"00085"	"COL1A1_000167"	"g.48269871C>G"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651626"	"0"	""	""	"g.50192510C>G"	""	"pathogenic"	""
"0000705784"	"0"	"99"	"17"	"48269853"	"48269853"	"subst"	"0"	"00085"	"COL1A1_000149"	"g.48269853C>T"	""	"{PMID:Mottes et al., 1998:10627137}"	""	""	""	"Unknown"	""	"rs72651629"	"0"	""	""	"g.50192492C>T"	""	"pathogenic"	""
"0000705785"	"0"	"99"	"17"	"48269843"	"48269843"	"subst"	"0"	"00085"	"COL1A1_000153"	"g.48269843C>G"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs72651630"	"0"	""	""	"g.50192482C>G"	""	"pathogenic"	""
"0000705786"	"0"	"99"	"17"	"48269838"	"48269838"	"subst"	"0"	"00085"	"COL1A1_000273"	"g.48269838G>A"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72651631"	"0"	""	""	"g.50192477G>A"	""	"pathogenic"	""
"0000705787"	"0"	"99"	"17"	"48269836"	"48269837"	"delins"	"0"	"03704"	"COL1A1_000200"	"g.48269836_48269837delinsAA"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192475_50192476delinsAA"	""	"pathogenic"	""
"0000705788"	"0"	"99"	"17"	"48269834"	"48269834"	"subst"	"0"	"03853"	"COL1A1_000464"	"g.48269834A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192473A>C"	""	"pathogenic"	""
"0000705789"	"0"	"99"	"17"	"48269227"	"48269699"	"del"	"0"	"00085"	"COL1A1_000685"	"g.48269227_48269699del"	""	"{PMID:Parker et al., 2011:21567925}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191866_50192338del"	""	"pathogenic"	""
"0000705790"	"0"	"93"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"00085"	"COL1A1_000423"	"g.48269390G>T"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs66592376"	"0"	""	""	"g.50192029G>T"	""	"VUS"	""
"0000705791"	"2"	"33"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"03855"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	""	""	"Unknown"	""	"rs66592376"	"0"	""	""	"g.50192029G>T"	""	"benign"	""
"0000705792"	"0"	"53"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"01819"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	""	""	"Unknown"	""	"rs66592376"	"0"	""	""	"g.50192029G>T"	""	"VUS"	""
"0000705793"	"3"	"73"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"03867"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	""	""	"Unknown"	""	"rs66592376"	"0"	""	""	"g.50192029G>T"	""	"VUS"	""
"0000705794"	"0"	"33"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"03882"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	""	""	"Unknown"	""	"rs66592376"	"0"	""	""	"g.50192029G>T"	""	"benign"	""
"0000705795"	"0"	"99"	"17"	"48269394"	"48269394"	"del"	"0"	"00085"	"COL1A1_000422"	"g.48269394del"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs66592375"	"0"	""	""	"g.50192033del"	""	"pathogenic"	""
"0000705796"	"0"	"99"	"17"	"48269387"	"48269387"	"subst"	"0"	"03704"	"COL1A1_000424"	"g.48269387T>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651632"	"0"	""	""	"g.50192026T>G"	""	"pathogenic"	""
"0000705797"	"0"	"99"	"17"	"48269387"	"48269387"	"subst"	"0"	"00085"	"COL1A1_000424"	"g.48269387T>G"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs72651632"	"0"	""	""	"g.50192026T>G"	""	"pathogenic"	""
"0000705798"	"0"	"99"	"17"	"48269387"	"48269387"	"subst"	"0"	"03870"	"COL1A1_000554"	"g.48269387T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192026T>C"	""	"pathogenic"	""
"0000705799"	"0"	"99"	"17"	"48269387"	"48269387"	"subst"	"0"	"03855"	"COL1A1_000554"	"g.48269387T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192026T>C"	""	"pathogenic"	""
"0000705800"	"0"	"99"	"17"	"48269376"	"48269376"	"del"	"0"	"00085"	"COL1A1_000317"	"g.48269376del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72651633"	"0"	""	""	"g.50192015del"	""	"pathogenic"	""
"0000705801"	"0"	"99"	"17"	"48269367"	"48269367"	"subst"	"0"	"03704"	"COL1A1_000673"	"g.48269367C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192006C>T"	""	"pathogenic"	""
"0000705802"	"0"	"53"	"17"	"48269364"	"48269364"	"subst"	"6.18735E-5"	"00085"	"COL1A1_001051"	"g.48269364C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192003C>T"	""	"VUS"	""
"0000705803"	"0"	"93"	"17"	"48269364"	"48269364"	"subst"	"6.18735E-5"	"00085"	"COL1A1_001051"	"g.48269364C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192003C>T"	""	"VUS"	""
"0000705804"	"0"	"93"	"17"	"48269364"	"48269364"	"subst"	"6.18735E-5"	"00085"	"COL1A1_001051"	"g.48269364C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50192003C>T"	""	"VUS"	""
"0000705805"	"0"	"99"	"17"	"48269359"	"48269359"	"del"	"0"	"00085"	"COL1A1_000318"	"g.48269359del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72651634"	"0"	""	""	"g.50191998del"	""	"pathogenic"	""
"0000705806"	"0"	"99"	"17"	"48269359"	"48269359"	"del"	"0"	"03855"	"COL1A1_000318"	"g.48269359del"	""	"{PMID:Balasubramanian et al., 2016:26863094}"	""	""	""	"Unknown"	""	"rs72651634"	"0"	""	""	"g.50191998del"	""	"pathogenic"	""
"0000705807"	"0"	"79"	"17"	"48269359"	"48269359"	"del"	"0"	"03867"	"COL1A1_000318"	"g.48269359del"	""	""	""	""	""	"Unknown"	""	"rs72651634"	"0"	""	""	"g.50191998del"	""	"pathogenic"	""
"0000705808"	"0"	"95"	"17"	"48269359"	"48269359"	"del"	"0"	"03894"	"COL1A1_000318"	"g.48269359del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651634"	"0"	""	""	""	""	"VUS"	""
"0000705809"	"21"	"99"	"17"	"48269359"	"48269359"	"del"	"0"	"00085"	"COL1A1_000318"	"g.48269359del"	""	"{PMID: Lin et al.,2019:31239369}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705810"	"21"	"99"	"17"	"48269359"	"48269359"	"del"	"0"	"00085"	"COL1A1_000318"	"g.48269359del"	""	"{PMID:Lin et al.,2019:31239369}"	""	""	""	"Unknown"	""	"rs72651634"	"0"	""	""	""	""	"VUS"	""
"0000705811"	"0"	"99"	"17"	"48269345"	"48269347"	"dup"	"0"	"00085"	"COL1A1_000838"	"g.48269345_48269347dup"	""	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191984_50191986dup"	""	"pathogenic"	""
"0000705812"	"0"	"99"	"17"	"48269343"	"48269348"	"del"	"0"	"00085"	"COL1A1_001068"	"g.48269343_48269348del"	""	"{PMID:Chandler et al., 2018:29595812}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191982_50191987del"	""	"pathogenic"	""
"0000705813"	"0"	"99"	"17"	"48269340"	"48269340"	"subst"	"0"	"01819"	"COL1A1_000726"	"g.48269340C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191979C>T"	""	"pathogenic"	""
"0000705814"	"0"	"99"	"17"	"48269340"	"48269340"	"subst"	"0"	"00085"	"COL1A1_000726"	"g.48269340C>T"	""	"{PMID:Mohd Nawawi et al., 2019:29807018}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191979C>T"	""	"pathogenic"	""
"0000705815"	"0"	"99"	"17"	"48269339"	"48269339"	"subst"	"0"	"00085"	"COL1A1_000425"	"g.48269339A>C"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72651635"	"0"	""	""	"g.50191978A>C"	""	"pathogenic"	""
"0000705816"	"0"	"99"	"17"	"48269248"	"48269248"	"subst"	"0"	"00085"	"COL1A1_001162"	"g.48269248C>T"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191887C>T"	""	"pathogenic"	""
"0000705817"	"0"	"99"	"17"	"48269248"	"48269248"	"subst"	"0"	"00085"	"COL1A1_001162"	"g.48269248C>T"	""	"{PMID:Mohd Nawawi et al., 2019:29807018}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191887C>T"	""	"pathogenic"	""
"0000705818"	"0"	"99"	"17"	"48269243"	"48269244"	"del"	"0"	"00475"	"COL1A1_000640"	"g.48269243_48269244del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191882_50191883del"	""	"pathogenic"	""
"0000705819"	"0"	"99"	"17"	"48269243"	"48269244"	"del"	"0"	"03870"	"COL1A1_000640"	"g.48269243_48269244del"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191882_50191883del"	""	"pathogenic"	""
"0000705820"	"0"	"95"	"17"	"48269238"	"48269239"	"del"	"0"	"03894"	"COL1A1_000640"	"g.48269238_48269239del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705821"	"0"	"99"	"17"	"48269229"	"48269230"	"ins"	"0"	"00085"	"COL1A1_000319"	"g.48269229_48269230insCTAGAGAG"	""	"{PMID:Benušiené and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	"rs74315115"	"0"	""	""	"g.50191868_50191869insCTAGAGAG"	""	"pathogenic"	""
"0000705822"	"0"	"99"	"17"	"48269229"	"48269229"	"subst"	"0"	"00085"	"COL1A1_000199"	"g.48269229C>T"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72651636"	"0"	""	""	"g.50191868C>T"	""	"pathogenic"	""
"0000705823"	"3"	"99"	"17"	"48269226"	"48269226"	"subst"	"0"	"00085"	"COL1A1_001220"	"g.48269226C>T"	""	"{PMID:Alazami 2016:27023906}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191865C>T"	""	"pathogenic"	""
"0000705824"	"3"	"99"	"17"	"48269226"	"48269226"	"subst"	"0"	"00085"	"COL1A1_001220"	"g.48269226C>T"	""	"{PMID:Alazami 2016:27023906}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191865C>T"	""	"pathogenic"	""
"0000705825"	"0"	"99"	"17"	"48269219"	"48269219"	"subst"	"0"	"00085"	"COL1A1_000533"	"g.48269219C>G"	""	"{PMID:Wang et al., 2009:19491628}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191858C>G"	""	"pathogenic"	""
"0000705826"	"0"	"99"	"17"	"48269219"	"48269219"	"subst"	"0"	"00085"	"COL1A1_000103"	"g.48269219C>A"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs72651637"	"0"	""	""	"g.50191858C>A"	""	"pathogenic"	""
"0000705827"	"0"	"99"	"17"	"48269211"	"48269211"	"subst"	"0"	"00085"	"COL1A1_000163"	"g.48269211C>T"	""	"{PMID:Galicka et al., 2003:12870654}"	""	""	""	"Unknown"	""	"rs72651638"	"0"	""	""	"g.50191850C>T"	""	"pathogenic"	""
"0000705828"	"0"	"99"	"17"	"48269210"	"48269210"	"subst"	"0"	"00085"	"COL1A1_000830"	"g.48269210C>T"	""	"{PMID:Wu et al., 2014:25289482}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191849C>T"	""	"pathogenic"	""
"0000705829"	"0"	"35"	"17"	"48269204"	"48269204"	"subst"	"0"	"03855"	"COL1A1_000600"	"g.48269204G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191843G>A"	""	"VUS"	""
"0000705830"	"0"	"99"	"17"	"48269208"	"48269208"	"del"	"0"	"00085"	"COL1A1_000320"	"g.48269208del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72651639"	"0"	""	""	"g.50191847del"	""	"pathogenic"	""
"0000705831"	"0"	"99"	"17"	"48269203"	"48269203"	"del"	"4.41127E-6"	"00085"	"COL1A1_000309"	"g.48269203del"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72651640"	"0"	""	""	"g.50191842del"	""	"pathogenic"	""
"0000705832"	"0"	"99"	"17"	"48269203"	"48269203"	"del"	"4.41127E-6"	"00085"	"COL1A1_000309"	"g.48269203del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	"rs72651640"	"0"	""	""	"g.50191842del"	""	"pathogenic"	""
"0000705833"	"0"	"99"	"17"	"48269201"	"48269201"	"subst"	"0"	"03879"	"COL1A1_000865"	"g.48269201C>G"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191840C>G"	""	"pathogenic"	""
"0000705834"	"0"	"99"	"17"	"48269193"	"48269193"	"subst"	"0"	"00085"	"COL1A1_000831"	"g.48269193C>T"	""	"{PMID:Wu et al., 2014:25289482}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191832C>T"	""	"pathogenic"	""
"0000705835"	"0"	"99"	"17"	"48269193"	"48269193"	"del"	"0"	"00085"	"COL1A1_000283"	"g.48269193del"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72651641"	"0"	""	""	"g.50191832del"	""	"pathogenic"	""
"0000705836"	"0"	"99"	"17"	"48269193"	"48269193"	"del"	"0"	"00085"	"COL1A1_000283"	"g.48269193del"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72651641"	"0"	""	""	"g.50191832del"	""	"pathogenic"	""
"0000705837"	"0"	"99"	"17"	"48269176"	"48269190"	"delins"	"0"	"03870"	"COL1A1_000550"	"g.48269176_48269190delinsATGGGGACCTTGCAGC"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191815_50191829delinsATGGGGACCTTGCAGC"	""	"pathogenic"	""
"0000705838"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03704"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705839"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"00085"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705840"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03870"	"COL1A1_000198"	"g.48269187G>A"	""	""	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705841"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"00085"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705842"	"10"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03879"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705843"	"20"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03879"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705844"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03879"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705845"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03870"	"COL1A1_000198"	"g.48269187G>A"	""	""	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705846"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03870"	"COL1A1_000198"	"g.48269187G>A"	""	""	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	""	""	"VUS"	""
"0000705847"	"0"	"95"	"17"	"48269187"	"48269187"	"subst"	"0"	"03894"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	""	""	"VUS"	""
"0000705848"	"0"	"95"	"17"	"48269187"	"48269187"	"subst"	"0"	"03894"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	""	""	"VUS"	""
"0000705849"	"0"	"95"	"17"	"48269187"	"48269187"	"subst"	"0"	"03894"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651642"	"0"	""	""	""	""	"VUS"	""
"0000705850"	"0"	"99"	"17"	"48269187"	"48269187"	"subst"	"0"	"03897"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic"	""
"0000705851"	"0"	"99"	"17"	"48269185"	"48269186"	"del"	"0"	"03879"	"COL1A1_000869"	"g.48269185_48269186del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191824_50191825del"	""	"pathogenic"	""
"0000705852"	"11"	"99"	"17"	"48269185"	"48269186"	"del"	"0"	"03879"	"COL1A1_000869"	"g.48269185_48269186del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191824_50191825del"	""	"pathogenic"	""
"0000705853"	"10"	"99"	"17"	"48269185"	"48269186"	"del"	"0"	"03879"	"COL1A1_000869"	"g.48269185_48269186del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191824_50191825del"	""	"pathogenic"	""
"0000705854"	"0"	"99"	"17"	"48269180"	"48269180"	"del"	"0"	"03704"	"COL1A1_000321"	"g.48269180del"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72651643"	"0"	""	""	"g.50191819del"	""	"pathogenic"	""
"0000705855"	"0"	"99"	"17"	"48269180"	"48269180"	"del"	"0"	"03871"	"COL1A1_000321"	"g.48269180del"	""	""	""	""	""	"Unknown"	""	"rs72651643"	"0"	""	""	"g.50191819del"	""	"pathogenic"	""
"0000705856"	"0"	"99"	"17"	"48269175"	"48269175"	"subst"	"0"	"00085"	"COL1A1_000104"	"g.48269175C>T"	""	"{PMID:Marini et al., 2007:17078022} (Trummer, personal communication)"	""	""	""	"Unknown"	""	"rs68114506"	"0"	""	""	"g.50191814C>T"	""	"pathogenic"	""
"0000705857"	"0"	"99"	"17"	"48269175"	"48269175"	"subst"	"0"	"03855"	"COL1A1_000104"	"g.48269175C>T"	""	""	""	""	""	"Unknown"	""	"rs68114506"	"0"	""	""	"g.50191814C>T"	""	"pathogenic"	""
"0000705858"	"0"	"99"	"17"	"48269175"	"48269175"	"subst"	"0"	"00085"	"COL1A1_000104"	"g.48269175C>T"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	"rs68114506"	"0"	""	""	"g.50191814C>T"	""	"pathogenic"	""
"0000705859"	"0"	"99"	"17"	"48269175"	"48269175"	"subst"	"0"	"00085"	"COL1A1_000187"	"g.48269175C>A"	""	"{PMID:Sarafova et al., 1998:9600458}"	""	""	""	"Unknown"	""	"rs68114505"	"0"	""	""	"g.50191814C>A"	""	"pathogenic"	""
"0000705860"	"0"	"95"	"17"	"48269175"	"48269175"	"subst"	"0"	"03897"	"COL1A1_000187"	"g.48269175C>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs68114505"	"0"	""	""	"g.50191814C>A"	""	"VUS"	""
"0000705861"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03704"	"COL1A1_000106"	"g.48269166C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67368147"	"0"	""	""	"g.50191805C>T"	""	"pathogenic"	""
"0000705862"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03704"	"COL1A1_000106"	"g.48269166C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67368147"	"0"	""	""	"g.50191805C>T"	""	"pathogenic"	""
"0000705863"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"00085"	"COL1A1_000106"	"g.48269166C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67368147"	"0"	""	""	"g.50191805C>T"	""	"pathogenic"	""
"0000705864"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"00085"	"COL1A1_000106"	"g.48269166C>T"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs67368147"	"0"	""	""	"g.50191805C>T"	""	"pathogenic"	""
"0000705865"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03704"	"COL1A1_000106"	"g.48269166C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	"rs67368147"	"0"	""	""	"g.50191805C>T"	""	"pathogenic"	""
"0000705866"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03704"	"COL1A1_000105"	"g.48269166C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic"	""
"0000705867"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03704"	"COL1A1_000105"	"g.48269166C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic"	""
"0000705868"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03704"	"COL1A1_000105"	"g.48269166C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic"	""
"0000705869"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03704"	"COL1A1_000105"	"g.48269166C>A"	""	"{PMID:Starman et al., 1989:2794057}"	""	""	""	"Unknown"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic"	""
"0000705870"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"00085"	"COL1A1_000105"	"g.48269166C>A"	""	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	"Unknown"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic"	""
"0000705871"	"21"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03879"	"COL1A1_000105"	"g.48269166C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic"	""
"0000705872"	"0"	"99"	"17"	"48269166"	"48269166"	"subst"	"0"	"03879"	"COL1A1_000105"	"g.48269166C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic"	""
"0000705873"	"0"	"11"	"17"	"48269161"	"48269161"	"subst"	"0.000649773"	"00085"	"COL1A1_000503"	"g.48269161G>A"	""	"{PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs41316673"	"0"	""	""	"g.50191800G>A"	""	"likely benign"	""
"0000705874"	"0"	"51"	"17"	"48269161"	"48269161"	"subst"	"0.000649773"	"00085"	"COL1A1_000503"	"g.48269161G>A"	""	""	""	""	""	"Unknown"	""	"rs41316673"	"0"	""	""	"g.50191800G>A"	""	"VUS"	""
"0000705875"	"0"	"99"	"17"	"48269157"	"48269157"	"del"	"0"	"03855"	"COL1A1_000599"	"g.48269157del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191796del"	""	"pathogenic"	""
"0000705876"	"0"	"77"	"17"	"48269149"	"48269149"	"subst"	"0"	"03885"	"COL1A1_000959"	"g.48269149C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191788C>T"	""	"likely pathogenic"	""
"0000705877"	"0"	"95"	"17"	"48269148"	"48269148"	"subst"	"0"	"03894"	"COL1A1_001111"	"g.48269148C>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705878"	"0"	"99"	"17"	"48269147"	"48269147"	"subst"	"0"	"00085"	"COL1A1_000777"	"g.48269147A>T"	""	"{PMID:Shaheen et al., 2012:23054245}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191786A>T"	""	"pathogenic"	""
"0000705879"	"0"	"99"	"17"	"48269147"	"48269147"	"subst"	"0"	"00085"	"COL1A1_000426"	"g.48269147A>C"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72651644"	"0"	""	""	"g.50191786A>C"	""	"pathogenic"	""
"0000705880"	"0"	"55"	"17"	"48268865"	"48268865"	"subst"	"0"	"00085"	"COL1A1_001170"	"g.48268865A>T"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705881"	"0"	"99"	"17"	"48268854"	"48268854"	"subst"	"0"	"01819"	"COL1A1_000727"	"g.48268854A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191493A>C"	""	"pathogenic"	""
"0000705882"	"0"	"99"	"17"	"48268852"	"48268852"	"subst"	"0"	"00085"	"COL1A1_000427"	"g.48268852C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67543898"	"0"	""	""	"g.50191491C>T"	""	"pathogenic"	""
"0000705883"	"0"	"99"	"17"	"48268852"	"48268852"	"subst"	"0"	"00085"	"COL1A1_000427"	"g.48268852C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67543898"	"0"	""	""	"g.50191491C>T"	""	"pathogenic"	""
"0000705884"	"0"	"99"	"17"	"48268852"	"48268852"	"subst"	"0"	"00085"	"COL1A1_000427"	"g.48268852C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67543898"	"0"	""	""	"g.50191491C>T"	""	"pathogenic"	""
"0000705885"	"0"	"99"	"17"	"48268852"	"48268852"	"subst"	"0"	"03855"	"COL1A1_000427"	"g.48268852C>T"	""	""	""	""	""	"Unknown"	""	"rs67543898"	"0"	""	""	"g.50191491C>T"	""	"pathogenic"	""
"0000705886"	"0"	"79"	"17"	"48268852"	"48268852"	"subst"	"0"	"00085"	"COL1A1_000428"	"g.48268852C>G"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67543897"	"0"	""	""	"g.50191491C>G"	""	"pathogenic"	""
"0000705887"	"0"	"99"	"17"	"48268842"	"48268842"	"subst"	"0"	"01819"	"COL1A1_000713"	"g.48268842C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191481C>T"	""	"pathogenic"	""
"0000705888"	"0"	"99"	"17"	"48268838"	"48268838"	"dup"	"0"	"03855"	"COL1A1_000601"	"g.48268838dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191477dup"	""	"pathogenic"	""
"0000705889"	"0"	"95"	"17"	"48268834"	"48268834"	"del"	"0"	"03894"	"COL1A1_001113"	"g.48268834del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705890"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"03704"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705891"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"00085"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705892"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"00085"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705893"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"00085"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705894"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"00085"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Mackay et al., 1993:7691343}"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705895"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"03853"	"COL1A1_000108"	"g.48268824C>T"	""	""	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705896"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"03855"	"COL1A1_000108"	"g.48268824C>T"	""	""	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705897"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"03855"	"COL1A1_000108"	"g.48268824C>T"	""	""	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705898"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"03855"	"COL1A1_000108"	"g.48268824C>T"	""	""	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705899"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"03855"	"COL1A1_000108"	"g.48268824C>T"	""	""	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705900"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"00085"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705901"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"00085"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705902"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"03879"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705903"	"0"	"95"	"17"	"48268824"	"48268824"	"subst"	"0"	"03894"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	""	""	"VUS"	""
"0000705904"	"0"	"99"	"17"	"48268824"	"48268824"	"subst"	"0"	"00085"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic"	""
"0000705905"	"0"	"99"	"17"	"48268823"	"48268823"	"subst"	"0"	"00085"	"COL1A1_000189"	"g.48268823C>T"	""	"{PMID:Zhuang et al., 1991:2035536}"	""	""	""	"Unknown"	""	"rs72651646"	"0"	""	""	"g.50191462C>T"	""	"pathogenic"	""
"0000705906"	"0"	"99"	"17"	"48268815"	"48268815"	"subst"	"0"	"00085"	"COL1A1_000223"	"g.48268815C>T"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72651647"	"0"	""	""	"g.50191454C>T"	""	"pathogenic"	""
"0000705907"	"0"	"99"	"17"	"48268814"	"48268814"	"subst"	"0"	"00085"	"COL1A1_001292"	"g.48268814C>G"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705908"	"0"	"93"	"17"	"48268811"	"48268811"	"subst"	"0.000479242"	"00085"	"COL1A1_000816"	"g.48268811G>A"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191450G>A"	""	"VUS"	""
"0000705909"	"0"	"11"	"17"	"48268804"	"48268804"	"subst"	"0.00267225"	"00085"	"COL1A1_000504"	"g.48268804G>A"	""	"{PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs35017779"	"0"	""	""	"g.50191443G>A"	""	"likely benign"	""
"0000705910"	"0"	"51"	"17"	"48268804"	"48268804"	"subst"	"0.00267225"	"00085"	"COL1A1_000504"	"g.48268804G>A"	""	""	""	""	""	"Unknown"	""	"rs35017779"	"0"	""	""	"g.50191443G>A"	""	"VUS"	""
"0000705911"	"10"	"95"	"17"	"48268800"	"48268800"	"subst"	"0"	"03897"	"COL1A1_001307"	"g.48268800G>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191439G>A"	""	"VUS"	""
"0000705912"	"0"	"99"	"17"	"48268797"	"48268797"	"subst"	"0"	"03704"	"COL1A1_000112"	"g.48268797C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651648"	"0"	""	""	"g.50191436C>T"	""	"pathogenic"	""
"0000705913"	"0"	"99"	"17"	"48268797"	"48268797"	"subst"	"0"	"03704"	"COL1A1_000112"	"g.48268797C>T"	""	"{PMID:Wallis et al., 1990:2339700}"	""	""	""	"Unknown"	""	"rs72651648"	"0"	""	""	"g.50191436C>T"	""	"pathogenic"	""
"0000705914"	"0"	"99"	"17"	"48268796"	"48268796"	"subst"	"0"	"00085"	"COL1A1_001270"	"g.48268796C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705915"	"0"	"99"	"17"	"48268787"	"48268787"	"subst"	"0"	"00085"	"COL1A1_000887"	"g.48268787C>G"	""	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191426C>G"	""	"pathogenic"	""
"0000705916"	"0"	"95"	"17"	"48268787"	"48268787"	"subst"	"0"	"03894"	"COL1A1_000887"	"g.48268787C>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705917"	"21"	"99"	"17"	"48268787"	"48268787"	"subst"	"0"	"03704"	"COL1A1_000674"	"g.48268787C>A"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191426C>A"	""	"pathogenic"	""
"0000705918"	"0"	"95"	"17"	"48268784"	"48268784"	"del"	"0"	"03897"	"COL1A1_001317"	"g.48268784del"	""	"{PMID:Zhytnik 2019:31447884}"	""	"2195delA"	"Variants are reported incorrectly as 2195delA"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50191423del"	""	"VUS"	""
"0000705919"	"0"	"99"	"17"	"48268778"	"48268778"	"subst"	"0"	"03865"	"COL1A1_000764"	"g.48268778C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191417C>G"	""	"pathogenic"	""
"0000705920"	"0"	"99"	"17"	"48268778"	"48268778"	"subst"	"0"	"00085"	"COL1A1_000224"	"g.48268778C>A"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72651649"	"0"	""	""	"g.50191417C>A"	""	"pathogenic"	""
"0000705921"	"0"	"99"	"17"	"48268770"	"48268770"	"subst"	"0"	"00085"	"COL1A1_000113"	"g.48268770C>A"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651650"	"0"	""	""	"g.50191409C>A"	""	"pathogenic"	""
"0000705922"	"0"	"99"	"17"	"48268770"	"48268770"	"subst"	"0"	"03704"	"COL1A1_000113"	"g.48268770C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651650"	"0"	""	""	"g.50191409C>A"	""	"pathogenic"	""
"0000705923"	"0"	"99"	"17"	"48268770"	"48268770"	"subst"	"0"	"00085"	"COL1A1_000113"	"g.48268770C>A"	""	"{PMID:Pallos et al., 2001:11286811}"	""	""	""	"Unknown"	""	"rs72651650"	"0"	""	""	"g.50191409C>A"	""	"pathogenic"	""
"0000705924"	"0"	"99"	"17"	"48268769"	"48268769"	"subst"	"0"	"03704"	"COL1A1_000115"	"g.48268769C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651651"	"0"	""	""	"g.50191408C>T"	""	"pathogenic"	""
"0000705925"	"0"	"99"	"17"	"48268769"	"48268769"	"subst"	"0"	"00085"	"COL1A1_000115"	"g.48268769C>T"	""	"Cohn et al., 1990c {Localcohn_et_al_1990c.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs72651651"	"0"	""	""	"g.50191408C>T"	""	"pathogenic"	""
"0000705926"	"0"	"99"	"17"	"48268764"	"48268764"	"del"	"0"	"03870"	"COL1A1_000669"	"g.48268764del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191403del"	""	"pathogenic"	""
"0000705927"	"0"	"99"	"17"	"48268761"	"48268761"	"subst"	"0"	"03704"	"COL1A1_000481"	"g.48268761C>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191400C>G"	""	"pathogenic"	""
"0000705928"	"0"	"99"	"17"	"48268752"	"48268752"	"subst"	"0"	"00085"	"COL1A1_000225"	"g.48268752C>T"	""	"{PMID:Bateman et al., 1992:1445258}"	""	""	""	"Unknown"	""	"rs72651652"	"0"	""	""	"g.50191391C>T"	""	"pathogenic"	""
"0000705929"	"0"	"99"	"17"	"48268751"	"48268751"	"subst"	"0"	"03704"	"COL1A1_000675"	"g.48268751C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191390C>T"	""	"pathogenic"	""
"0000705930"	"0"	"99"	"17"	"48268751"	"48268751"	"subst"	"0"	"00085"	"COL1A1_000226"	"g.48268751C>A"	""	"{PMID:Mackay et al., 1993:8100209}"	""	""	""	"Unknown"	""	"rs72651653"	"0"	""	""	"g.50191390C>A"	""	"pathogenic"	""
"0000705931"	"20"	"99"	"17"	"48268745"	"48268746"	"del"	"0"	"03856"	"COL1A1_000547"	"g.48268745_48268746del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191384_50191385del"	""	"pathogenic"	""
"0000705932"	"0"	"99"	"17"	"48268745"	"48268746"	"del"	"0"	"00085"	"COL1A1_000547"	"g.48268745_48268746del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191384_50191385del"	""	"pathogenic"	""
"0000705933"	"0"	"99"	"17"	"48268745"	"48268746"	"del"	"0"	"03870"	"COL1A1_000547"	"g.48268745_48268746del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191384_50191385del"	""	"pathogenic"	""
"0000705934"	"0"	"99"	"17"	"48268743"	"48268743"	"subst"	"0"	"03853"	"COL1A1_000467"	"g.48268743C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic"	""
"0000705935"	"0"	"99"	"17"	"48268743"	"48268743"	"subst"	"0"	"03879"	"COL1A1_000467"	"g.48268743C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic"	""
"0000705936"	"0"	"99"	"17"	"48268743"	"48268743"	"subst"	"0"	"03879"	"COL1A1_000467"	"g.48268743C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic"	""
"0000705937"	"0"	"99"	"17"	"48268743"	"48268743"	"subst"	"0"	"03872"	"COL1A1_000467"	"g.48268743C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic"	""
"0000705938"	"0"	"95"	"17"	"48268743"	"48268743"	"subst"	"0"	"03894"	"COL1A1_000467"	"g.48268743C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705939"	"0"	"99"	"17"	"48268743"	"48268743"	"subst"	"0"	"00085"	"COL1A1_000467"	"g.48268743C>T"	""	"{PMID:Jaleč et al., 2019:30720562}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic"	""
"0000705940"	"0"	"99"	"17"	"48268739"	"48268739"	"subst"	"0"	"03885"	"COL1A1_000960"	"g.48268739C>G"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50191378C>G"	""	"pathogenic"	""
"0000705941"	"0"	"99"	"17"	"48268248"	"48268332"	"del"	"0"	"00085"	"COL1A1_000810"	"g.48268248_48268332del"	""	"{PMID:Lin et al., 2014:24486247}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190887_50190971del"	""	"pathogenic"	""
"0000705942"	"0"	"99"	"17"	"48268287"	"48268287"	"subst"	"0"	"00085"	"COL1A1_001059"	"g.48268287T>C"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190926T>C"	""	"pathogenic"	""
"0000705943"	"0"	"73"	"17"	"48268286"	"48268286"	"subst"	"0"	"03885"	"COL1A1_000986"	"g.48268286C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190925C>T"	""	"VUS"	""
"0000705944"	"0"	"99"	"17"	"48268276"	"48268276"	"subst"	"0"	"03853"	"COL1A1_000529"	"g.48268276C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190915C>T"	""	"pathogenic"	""
"0000705945"	"0"	"99"	"17"	"48268258"	"48268258"	"subst"	"0"	"03704"	"COL1A1_000116"	"g.48268258C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651654"	"0"	""	""	"g.50190897C>T"	""	"pathogenic"	""
"0000705946"	"0"	"99"	"17"	"48268258"	"48268258"	"subst"	"0"	"03853"	"COL1A1_000116"	"g.48268258C>T"	""	""	""	""	""	"Unknown"	""	"rs72651654"	"0"	""	""	"g.50190897C>T"	""	"pathogenic"	""
"0000705947"	"0"	"95"	"17"	"48268258"	"48268258"	"subst"	"0"	"03894"	"COL1A1_000116"	"g.48268258C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651654"	"0"	""	""	""	""	"VUS"	""
"0000705948"	"0"	"99"	"17"	"48268255"	"48268256"	"del"	"0"	"00085"	"COL1A1_000429"	"g.48268255_48268256del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72651655"	"0"	""	""	"g.50190894_50190895del"	""	"pathogenic"	""
"0000705949"	"0"	"99"	"17"	"48268255"	"48268256"	"dup"	"0"	"03870"	"COL1A1_000658"	"g.48268255_48268256dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190894_50190895dup"	""	"pathogenic"	""
"0000705950"	"0"	"99"	"17"	"48268255"	"48268256"	"dup"	"0"	"03870"	"COL1A1_000658"	"g.48268255_48268256dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190894_50190895dup"	""	"pathogenic"	""
"0000705951"	"0"	"99"	"17"	"48268252"	"48268252"	"del"	"0"	"03870"	"COL1A1_001025"	"g.48268252del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190891del"	""	"pathogenic"	""
"0000705952"	"0"	"99"	"17"	"48268249"	"48268249"	"subst"	"0"	"03855"	"COL1A1_000620"	"g.48268249C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190888C>T"	""	"pathogenic"	""
"0000705953"	"0"	"99"	"17"	"48268249"	"48268249"	"subst"	"0"	"03704"	"COL1A1_000117"	"g.48268249C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651656"	"0"	""	""	"g.50190888C>A"	""	"pathogenic"	""
"0000705954"	"0"	"99"	"17"	"48268240"	"48268240"	"subst"	"0"	"00085"	"COL1A1_001060"	"g.48268240C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190879C>T"	""	"pathogenic"	""
"0000705955"	"0"	"99"	"17"	"48268239"	"48268239"	"subst"	"0"	"03855"	"COL1A1_000618"	"g.48268239C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190878C>T"	""	"pathogenic"	""
"0000705956"	"0"	"99"	"17"	"48268231"	"48268231"	"subst"	"0"	"03704"	"COL1A1_000676"	"g.48268231C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190870C>T"	""	"pathogenic"	""
"0000705957"	"0"	"99"	"17"	"48268230"	"48268230"	"subst"	"0"	"00085"	"COL1A1_000227"	"g.48268230C>A"	""	"{PMID:Lund et al., 1997:9143923}"	""	""	""	"Unknown"	""	"rs72651657"	"0"	""	""	"g.50190869C>A"	""	"pathogenic"	""
"0000705958"	"0"	"93"	"17"	"48268224"	"48268224"	"subst"	"0"	"00085"	"COL1A1_001271"	"g.48268224G>C"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000705959"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03704"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705960"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03704"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705961"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705962"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705963"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705964"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705965"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705966"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705967"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705968"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705969"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705970"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Forlino et al., 1994:7881420}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705971"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Zhuang et al., 1996:8829649}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705972"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Lund et al., 1997:9240878}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705973"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03704"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705974"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705975"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705976"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03870"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705977"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03853"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705978"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03870"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705979"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705980"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705981"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705982"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705983"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03865"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705984"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705985"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705986"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03872"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705987"	"21"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03872"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000705988"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Zhang 2015:26377240}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705989"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Mauri et al., 2016:27484908}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705990"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705991"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03870"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705992"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03870"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705993"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705994"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705995"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"03894"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000705996"	"0"	"95"	"17"	"48268222"	"48268222"	"subst"	"0"	"03894"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000705997"	"0"	"95"	"17"	"48268222"	"48268222"	"subst"	"0"	"03894"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000705998"	"0"	"95"	"17"	"48268222"	"48268222"	"subst"	"0"	"03894"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000705999"	"0"	"95"	"17"	"48268222"	"48268222"	"subst"	"0"	"03894"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000706000"	"0"	"95"	"17"	"48268222"	"48268222"	"subst"	"0"	"03894"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000706001"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Chen et al., 2019:29764212}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000706002"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000706003"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00085"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72651658"	"0"	""	""	""	""	"VUS"	""
"0000706004"	"0"	"99"	"17"	"48268221"	"48268221"	"subst"	"0"	"00085"	"COL1A1_001042"	"g.48268221C>T"	""	"{PMID: van Dijk et al, 2011:22570641}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190860C>T"	""	"pathogenic"	""
"0000706005"	"0"	"99"	"17"	"48268213"	"48268213"	"subst"	"0"	"00085"	"COL1A1_000229"	"g.48268213C>T"	""	"{PMID:Reis et al., 2005:15741671}"	""	""	""	"Unknown"	""	"rs67087075"	"0"	""	""	"g.50190852C>T"	""	"pathogenic"	""
"0000706006"	"0"	"59"	"17"	"48268213"	"48268213"	"subst"	"0"	"00475"	"COL1A1_000229"	"g.48268213C>T"	""	""	""	""	""	"Unknown"	""	"rs67087075"	"0"	""	""	"g.50190852C>T"	""	"pathogenic"	""
"0000706007"	"0"	"99"	"17"	"48268213"	"48268213"	"subst"	"0"	"03704"	"COL1A1_000137"	"g.48268213C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67087076"	"0"	""	""	"g.50190852C>A"	""	"pathogenic"	""
"0000706008"	"0"	"99"	"17"	"48268213"	"48268213"	"subst"	"0"	"03704"	"COL1A1_000137"	"g.48268213C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67087076"	"0"	""	""	"g.50190852C>A"	""	"pathogenic"	""
"0000706009"	"0"	"99"	"17"	"48268212"	"48268212"	"subst"	"0"	"03855"	"COL1A1_000619"	"g.48268212C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190851C>T"	""	"pathogenic"	""
"0000706010"	"0"	"99"	"17"	"48268204"	"48268204"	"subst"	"0"	"03704"	"COL1A1_000138"	"g.48268204C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651659"	"0"	""	""	"g.50190843C>T"	""	"pathogenic"	""
"0000706011"	"0"	"99"	"17"	"48268204"	"48268204"	"subst"	"0"	"00085"	"COL1A1_000138"	"g.48268204C>T"	""	"{PMID:Chamberlain et al., 2004:14976317}"	""	""	""	"Unknown"	""	"rs72651659"	"0"	""	""	"g.50190843C>T"	""	"pathogenic"	""
"0000706012"	"0"	"99"	"17"	"48268204"	"48268204"	"subst"	"0"	"00085"	"COL1A1_000892"	"g.48268204C>A"	""	"{PMID:Maasalu et al., 2015:25958000}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190843C>A"	""	"pathogenic"	""
"0000706013"	"0"	"79"	"17"	"48268199"	"48268203"	"del"	"0"	"03871"	"COL1A1_000785"	"g.48268199_48268203del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190838_50190842del"	""	"pathogenic"	""
"0000706014"	"11"	"59"	"17"	"48268202"	"48268202"	"del"	"0"	"03872"	"COL1A1_000789"	"g.48268202del"	""	"{PMID:Bai et al., 2014:24928016}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190841del"	""	"pathogenic"	""
"0000706015"	"0"	"99"	"17"	"48268195"	"48268195"	"subst"	"0"	"00085"	"COL1A1_000228"	"g.48268195C>T"	""	"{PMID:Westerhausen et al., 1990:2116413}"	""	""	""	"Unknown"	""	"rs72651660"	"0"	""	""	"g.50190834C>T"	""	"pathogenic"	""
"0000706016"	"0"	"99"	"17"	"48268192"	"48268192"	"del"	"0"	"00085"	"COL1A1_000902"	"g.48268192del"	""	"{PMID:Fan et al., 2015:26634493}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190831del"	""	"pathogenic"	""
"0000706017"	"0"	"99"	"17"	"48268186"	"48268186"	"subst"	"0"	"00085"	"COL1A1_000230"	"g.48268186C>T"	""	"{PMID:Lund et al., 1997:9240878}"	""	""	""	"Unknown"	""	"rs72651661"	"0"	""	""	"g.50190825C>T"	""	"pathogenic"	""
"0000706018"	"0"	"99"	"17"	"48268186"	"48268186"	"subst"	"0"	"00085"	"COL1A1_000230"	"g.48268186C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72651661"	"0"	""	""	"g.50190825C>T"	""	"pathogenic"	""
"0000706019"	"0"	"99"	"17"	"48268186"	"48268186"	"subst"	"0"	"01819"	"COL1A1_000230"	"g.48268186C>T"	""	""	""	""	""	"Unknown"	""	"rs72651661"	"0"	""	""	"g.50190825C>T"	""	"pathogenic"	""
"0000706020"	"0"	"99"	"17"	"48268186"	"48268186"	"subst"	"0"	"03879"	"COL1A1_000230"	"g.48268186C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651661"	"0"	""	""	"g.50190825C>T"	""	"pathogenic"	""
"0000706021"	"0"	"95"	"17"	"48268186"	"48268186"	"subst"	"0"	"03894"	"COL1A1_000230"	"g.48268186C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651661"	"0"	""	""	""	""	"VUS"	""
"0000706022"	"0"	"95"	"17"	"48268186"	"48268186"	"subst"	"0"	"03894"	"COL1A1_000230"	"g.48268186C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72651661"	"0"	""	""	""	""	"VUS"	""
"0000706023"	"11"	"99"	"17"	"48267628"	"48268186"	"del"	"0"	"00085"	"COL1A1_000322"	"g.48267628_48268186del"	""	"{PMID:Wang et al., 1996:8910493}"	""	""	""	"Unknown"	""	"rs74315133"	"0"	""	""	"g.50190267_50190825del"	""	"pathogenic"	""
"0000706024"	"0"	"99"	"17"	"48268177"	"48268177"	"subst"	"0"	"03879"	"COL1A1_000866"	"g.48268177C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190816C>T"	""	"pathogenic"	""
"0000706025"	"0"	"99"	"17"	"48267958"	"48267958"	"subst"	"0"	"01819"	"COL1A1_000728"	"g.48267958C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190597C>T"	""	"pathogenic"	""
"0000706026"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"03704"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706027"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"00085"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Marini et al., 2007:17078022} (Trummer and Eyre, personal communication)"	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706028"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"00085"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706029"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"00085"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706030"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"03855"	"COL1A1_000140"	"g.48267939C>T"	""	""	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706031"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"03865"	"COL1A1_000140"	"g.48267939C>T"	""	""	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706032"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"03870"	"COL1A1_000140"	"g.48267939C>T"	""	""	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706033"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"00085"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Chandler et al., 2018:29595812}"	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706034"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"03894"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic"	""
"0000706035"	"0"	"95"	"17"	"48267939"	"48267939"	"subst"	"0"	"03894"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67879854"	"0"	""	""	""	""	"VUS"	""
"0000706036"	"10"	"95"	"17"	"48267939"	"48267939"	"subst"	"0"	"03897"	"COL1A1_000140"	"g.48267939C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"VUS"	""
"0000706037"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"03704"	"COL1A1_000139"	"g.48267939C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67879855"	"0"	""	""	"g.50190578C>A"	""	"pathogenic"	""
"0000706038"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"03704"	"COL1A1_000139"	"g.48267939C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67879855"	"0"	""	""	"g.50190578C>A"	""	"pathogenic"	""
"0000706039"	"0"	"99"	"17"	"48267939"	"48267939"	"subst"	"0"	"00085"	"COL1A1_000139"	"g.48267939C>A"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs67879855"	"0"	""	""	"g.50190578C>A"	""	"pathogenic"	""
"0000706040"	"0"	"99"	"17"	"48267920"	"48267942"	"del"	"0"	"03870"	"COL1A1_000660"	"g.48267920_48267942del"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190559_50190581del"	""	"pathogenic"	""
"0000706041"	"0"	"79"	"17"	"48267920"	"48267920"	"subst"	"0"	"00475"	"COL1A1_000580"	"g.48267920C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190559C>G"	""	"pathogenic"	""
"0000706042"	"0"	"79"	"17"	"48267920"	"48267920"	"subst"	"0"	"00475"	"COL1A1_000580"	"g.48267920C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190559C>G"	""	"pathogenic"	""
"0000706043"	"0"	"91"	"17"	"48267919"	"48267919"	"subst"	"0"	"00085"	"COL1A1_000935"	"g.48267919T>C"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190558T>C"	""	"VUS"	""
"0000706044"	"0"	"99"	"17"	"48267907"	"48267917"	"del"	"0"	"00085"	"COL1A1_000918"	"g.48267907_48267917del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190546_50190556del"	""	"pathogenic"	""
"0000706045"	"0"	"95"	"17"	"48267914"	"48267914"	"subst"	"8.17067E-6"	"00085"	"COL1A1_000231"	"g.48267914C>T"	""	"{Localsuperti-furga_et_al_1994.pdf:Superti-Furga et al., 1994}"	""	""	""	"Unknown"	""	"rs72651662"	"0"	""	""	"g.50190553C>T"	""	"VUS"	""
"0000706046"	"0"	"99"	"17"	"48267912"	"48267912"	"del"	"0"	"00085"	"COL1A1_000787"	"g.48267912del"	""	"{PMID:Donkervoort et al., 2013:24070816}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190551del"	""	"pathogenic"	""
"0000706047"	"0"	"99"	"17"	"48267908"	"48267908"	"del"	"0"	"00475"	"COL1A1_000641"	"g.48267908del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190547del"	""	"pathogenic"	""
"0000706048"	"0"	"99"	"17"	"48267908"	"48267908"	"dup"	"0"	"03853"	"COL1A1_000459"	"g.48267908dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190547dup"	""	"pathogenic"	""
"0000706049"	"10"	"99"	"17"	"48267908"	"48267908"	"dup"	"0"	"03897"	"COL1A1_000459"	"g.48267908dup"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190547dup"	""	"pathogenic"	""
"0000706050"	"0"	"99"	"17"	"48267694"	"48267694"	"dup"	"0"	"03885"	"COL1A1_000962"	"g.48267694dup"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190333dup"	""	"pathogenic"	""
"0000706051"	"0"	"95"	"17"	"48267683"	"48267683"	"subst"	"0"	"03894"	"COL1A1_001087"	"g.48267683C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706052"	"0"	"99"	"17"	"48267683"	"48267683"	"subst"	"0"	"03891"	"COL1A1_001153"	"g.48267683C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706053"	"0"	"99"	"17"	"48267741"	"48267741"	"subst"	"0"	"03870"	"COL1A1_001026"	"g.48267741C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190380C>A"	""	"pathogenic"	""
"0000706054"	"0"	"99"	"17"	"48267741"	"48267741"	"subst"	"0"	"03870"	"COL1A1_001026"	"g.48267741C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190380C>A"	""	"pathogenic"	""
"0000706055"	"0"	"99"	"17"	"48267741"	"48267741"	"subst"	"0"	"03870"	"COL1A1_001026"	"g.48267741C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190380C>A"	""	"pathogenic"	""
"0000706056"	"0"	"95"	"17"	"48267733"	"48267741"	"del"	"0"	"03894"	"COL1A1_001103"	"g.48267733_48267741del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706057"	"0"	"99"	"17"	"48267729"	"48267729"	"subst"	"0"	"00085"	"COL1A1_001273"	"g.48267729C>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706058"	"0"	"79"	"17"	"48267723"	"48267723"	"subst"	"0"	"00475"	"COL1A1_000642"	"g.48267723C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190362C>T"	""	"pathogenic"	""
"0000706059"	"0"	"99"	"17"	"48267720"	"48267720"	"del"	"0"	"00085"	"COL1A1_000697"	"g.48267720del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190359del"	""	"pathogenic"	""
"0000706060"	"0"	"95"	"17"	"48267715"	"48267715"	"del"	"0"	"03894"	"COL1A1_000697"	"g.48267715del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706061"	"0"	"99"	"17"	"48267720"	"48267720"	"dup"	"0"	"03879"	"COL1A1_000863"	"g.48267720dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190359dup"	""	"pathogenic"	""
"0000706062"	"11"	"99"	"17"	"48267720"	"48267720"	"dup"	"0"	"03879"	"COL1A1_000863"	"g.48267720dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190359dup"	""	"pathogenic"	""
"0000706063"	"11"	"99"	"17"	"48267720"	"48267720"	"dup"	"0"	"03879"	"COL1A1_000863"	"g.48267720dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190359dup"	""	"pathogenic"	""
"0000706064"	"0"	"99"	"17"	"48267714"	"48267714"	"subst"	"0"	"03704"	"COL1A1_000144"	"g.48267714C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651663"	"0"	""	""	"g.50190353C>T"	""	"pathogenic"	""
"0000706065"	"0"	"99"	"17"	"48267714"	"48267714"	"subst"	"0"	"03704"	"COL1A1_000144"	"g.48267714C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72651663"	"0"	""	""	"g.50190353C>T"	""	"pathogenic"	""
"0000706066"	"0"	"99"	"17"	"48267714"	"48267714"	"subst"	"0"	"00085"	"COL1A1_000144"	"g.48267714C>T"	""	"{PMID:Westerhausen et al., 1990:2116413}"	""	""	""	"Unknown"	""	"rs72651663"	"0"	""	""	"g.50190353C>T"	""	"pathogenic"	""
"0000706067"	"0"	"99"	"17"	"48267714"	"48267714"	"subst"	"0"	"03704"	"COL1A1_000144"	"g.48267714C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72651663"	"0"	""	""	"g.50190353C>T"	""	"pathogenic"	""
"0000706068"	"0"	"75"	"17"	"48267714"	"48267714"	"dup"	"0"	"01819"	"COL1A1_000989"	"g.48267714dup"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190353dup"	""	"VUS"	""
"0000706069"	"10"	"99"	"17"	"48267705"	"48267705"	"subst"	"0"	"03897"	"COL1A1_001315"	"g.48267705C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190344C>T"	""	"pathogenic"	""
"0000706070"	"0"	"99"	"17"	"48267696"	"48267696"	"subst"	"0"	"03872"	"COL1A1_000890"	"g.48267696C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190335C>T"	""	"pathogenic"	""
"0000706071"	"0"	"99"	"17"	"48267696"	"48267696"	"del"	"0"	"00085"	"COL1A1_000323"	"g.48267696del"	""	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	"Unknown"	""	"rs66929519"	"0"	""	""	"g.50190335del"	""	"pathogenic"	""
"0000706072"	"0"	"99"	"17"	"48267696"	"48267696"	"del"	"0"	"03862"	"COL1A1_000323"	"g.48267696del"	""	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	"Unknown"	""	"rs66929519"	"0"	""	""	"g.50190335del"	""	"pathogenic"	""
"0000706073"	"0"	"99"	"17"	"48267695"	"48267695"	"subst"	"0"	"00085"	"COL1A1_000146"	"g.48267695C>G"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs66929518"	"0"	""	""	"g.50190334C>G"	""	"pathogenic"	""
"0000706074"	"0"	"99"	"17"	"48267695"	"48267695"	"subst"	"0"	"03704"	"COL1A1_000145"	"g.48267695C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs66929517"	"0"	""	""	"g.50190334C>A"	""	"pathogenic"	""
"0000706075"	"0"	"99"	"17"	"48267695"	"48267695"	"subst"	"0"	"00085"	"COL1A1_000145"	"g.48267695C>A"	""	"{PMID:Tsuneyoshi et al., 1991:1874719}"	""	""	""	"Unknown"	""	"rs66929517"	"0"	""	""	"g.50190334C>A"	""	"pathogenic"	""
"0000706076"	"11"	"99"	"17"	"48267694"	"48267694"	"del"	"0"	"00085"	"COL1A1_000923"	"g.48267694del"	""	"{PMID:Hoefele et al., 2016:27059743}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190333del"	""	"pathogenic"	""
"0000706077"	"0"	"99"	"17"	"48267689"	"48267689"	"del"	"0"	"00085"	"COL1A1_000923"	"g.48267689del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706078"	"0"	"99"	"17"	"48267688"	"48267688"	"del"	"0"	"00085"	"COL1A1_000324"	"g.48267688del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72651664"	"0"	""	""	"g.50190327del"	""	"pathogenic"	""
"0000706079"	"20"	"99"	"17"	"48267688"	"48267688"	"del"	"0"	"03879"	"COL1A1_000324"	"g.48267688del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651664"	"0"	""	""	"g.50190327del"	""	"pathogenic"	""
"0000706080"	"11"	"99"	"17"	"48267688"	"48267688"	"del"	"0"	"03879"	"COL1A1_000324"	"g.48267688del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72651664"	"0"	""	""	"g.50190327del"	""	"pathogenic"	""
"0000706081"	"0"	"99"	"17"	"48267687"	"48267687"	"subst"	"0"	"03870"	"COL1A1_001027"	"g.48267687C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190326C>T"	""	"pathogenic"	""
"0000706082"	"0"	"99"	"17"	"48267611"	"48267611"	"subst"	"0"	"00085"	"COL1A1_000327"	"g.48267611G>A"	""	"{PMID:Genovese et al., 1989:2542316}"	""	""	""	"Unknown"	""	"rs72651665"	"0"	""	""	"g.50190250G>A"	""	"pathogenic"	""
"0000706083"	"0"	"99"	"17"	"48267611"	"48267611"	"subst"	"0"	"00085"	"COL1A1_000327"	"g.48267611G>A"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	"AF017178.2:g.11657C>T IVS36+76C>T"	"The original published account is incorrect in reporting the variant as +76C>T as the nucleotide at the +76 position is G, not C. In addition, it is unlikely that any variant at the +76 position could create a functional additional splice site."	"Unknown"	""	"rs72651665"	"0"	""	""	"g.50190250G>A"	""	"pathogenic"	""
"0000706084"	"0"	"99"	"17"	"48267594"	"48267594"	"subst"	"0"	"00085"	"COL1A1_000520"	"g.48267594C>A"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190233C>A"	""	"pathogenic"	""
"0000706085"	"0"	"99"	"17"	"48267594"	"48267594"	"subst"	"0"	"00085"	"COL1A1_000520"	"g.48267594C>A"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190233C>A"	""	"pathogenic"	""
"0000706086"	"0"	"99"	"17"	"48267471"	"48267471"	"subst"	"0"	"00085"	"COL1A1_000431"	"g.48267471T>C"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72651666"	"0"	""	""	"g.50190110T>C"	""	"pathogenic"	""
"0000706087"	"0"	"99"	"17"	"48267471"	"48267471"	"subst"	"0"	"00085"	"COL1A1_000431"	"g.48267471T>C"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72651666"	"0"	""	""	"g.50190110T>C"	""	"pathogenic"	""
"0000706088"	"0"	"99"	"17"	"48267471"	"48267471"	"subst"	"0"	"00085"	"COL1A1_000836"	"g.48267471T>A"	""	"{PMID:Wallace et al., 2014:25324685}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190110T>A"	""	"pathogenic"	""
"0000706089"	"0"	"99"	"17"	"48267470"	"48267470"	"subst"	"0"	"00085"	"COL1A1_000432"	"g.48267470C>T"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72651667"	"0"	""	""	"g.50190109C>T"	""	"pathogenic"	""
"0000706090"	"0"	"99"	"17"	"48267365"	"48267373"	"del"	"0"	"03890"	"COL1A1_001066"	"g.48267365_48267373del"	""	"E. Mornet, personal communication"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706091"	"0"	"99"	"17"	"48267688"	"48267688"	"dup"	"0"	"03704"	"COL1A1_000325"	"g.48267688dup"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190327dup"	""	"pathogenic"	""
"0000706092"	"0"	"59"	"17"	"48267469"	"48267469"	"subst"	"0"	"03890"	"COL1A1_001083"	"g.48267469C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706093"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Moriarty, personal communication)"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706094"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Marini et al., 2007:17078022} (Lund, personal communication)"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706095"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03704"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706096"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03702"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Lund et al., 1997:9101304}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706097"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Wang et al., 2006:16604495}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706098"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706099"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706100"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03870"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706101"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03855"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706102"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03702"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706103"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706104"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706105"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"01819"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706106"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"01819"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706107"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"01819"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706108"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"01819"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706109"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706110"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03865"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706111"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03865"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706112"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03865"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706113"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03865"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706114"	"0"	"79"	"17"	"48267460"	"48267460"	"subst"	"0"	"03867"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706115"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03879"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706116"	"10"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03879"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706117"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706118"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706119"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706120"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706121"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706122"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Kloen et al., 2018:29564298}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706123"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706124"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706125"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706126"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706127"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706128"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706129"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706130"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03894"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706131"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000706132"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706133"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"00085"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs67693971"	"0"	""	""	""	""	"VUS"	""
"0000706134"	"0"	"95"	"17"	"48267460"	"48267460"	"subst"	"0"	"03897"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"VUS"	""
"0000706135"	"21"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03704"	"COL1A1_000120"	"g.48267460C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67693970"	"0"	""	""	"g.50190099C>G"	""	"pathogenic"	""
"0000706136"	"0"	"99"	"17"	"48267460"	"48267460"	"subst"	"0"	"03704"	"COL1A1_000120"	"g.48267460C>G"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	"rs67693970"	"0"	""	""	"g.50190099C>G"	""	"pathogenic"	""
"0000706137"	"0"	"99"	"17"	"48267457"	"48267457"	"subst"	"0"	"00085"	"COL1A1_000232"	"g.48267457G>A"	""	"{PMID:Liu et al., 2007:17392686}"	""	""	""	"Unknown"	""	"rs72651668"	"0"	""	""	"g.50190096G>A"	""	"pathogenic"	""
"0000706138"	"0"	"99"	"17"	"48267451"	"48267451"	"subst"	"0"	"03704"	"COL1A1_000483"	"g.48267451C>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190090C>G"	""	"pathogenic"	""
"0000706139"	"0"	"99"	"17"	"48267451"	"48267451"	"subst"	"0"	"00085"	"COL1A1_000151"	"g.48267451C>A"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72651669"	"0"	""	""	"g.50190090C>A"	""	"pathogenic"	""
"0000706140"	"0"	"79"	"17"	"48267450"	"48267450"	"subst"	"0"	"00475"	"COL1A1_000643"	"g.48267450C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190089C>G"	""	"pathogenic"	""
"0000706141"	"0"	"99"	"17"	"48267450"	"48267450"	"subst"	"0"	"03704"	"COL1A1_000643"	"g.48267450C>G"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190089C>G"	""	"pathogenic"	""
"0000706142"	"0"	"99"	"17"	"48267441"	"48267441"	"subst"	"0"	"00085"	"COL1A1_000234"	"g.48267441C>T"	""	"{PMID:Reis et al., 2005:15741671}"	""	""	""	"Unknown"	""	"rs72653129"	"0"	""	""	"g.50190080C>T"	""	"pathogenic"	""
"0000706143"	"0"	"99"	"17"	"48267427"	"48267453"	"dup"	"0"	"03702"	"COL1A1_000453"	"g.48267427_48267453dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190066_50190092dup"	""	"pathogenic"	""
"0000706144"	"0"	"99"	"17"	"48267424"	"48267424"	"subst"	"0"	"00085"	"COL1A1_000811"	"g.48267424C>T"	""	"{PMID:Lin et al., 2014:24486247}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190063C>T"	""	"pathogenic"	""
"0000706145"	"0"	"99"	"17"	"48267423"	"48267423"	"subst"	"0"	"00085"	"COL1A1_000152"	"g.48267423C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67067133"	"0"	""	""	"g.50190062C>T"	""	"pathogenic"	""
"0000706146"	"0"	"99"	"17"	"48267423"	"48267423"	"subst"	"0"	"00085"	"COL1A1_000152"	"g.48267423C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67067133"	"0"	""	""	"g.50190062C>T"	""	"pathogenic"	""
"0000706147"	"0"	"99"	"17"	"48267423"	"48267423"	"subst"	"0"	"00085"	"COL1A1_000152"	"g.48267423C>T"	""	"{PMID:Aerts et al., 2006:16566045}"	""	""	""	"Unknown"	""	"rs67067133"	"0"	""	""	"g.50190062C>T"	""	"pathogenic"	""
"0000706148"	"0"	"99"	"17"	"48267423"	"48267423"	"subst"	"0"	"01819"	"COL1A1_000152"	"g.48267423C>T"	""	""	""	""	""	"Unknown"	""	"rs67067133"	"0"	""	""	"g.50190062C>T"	""	"pathogenic"	""
"0000706149"	"0"	"99"	"17"	"48267423"	"48267423"	"subst"	"0"	"00085"	"COL1A1_000135"	"g.48267423C>A"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs67067134"	"0"	""	""	"g.50190062C>A"	""	"pathogenic"	""
"0000706150"	"0"	"99"	"17"	"48267414"	"48267414"	"subst"	"0"	"00085"	"COL1A1_000155"	"g.48267414C>G"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72653130"	"0"	""	""	"g.50190053C>G"	""	"pathogenic"	""
"0000706151"	"0"	"99"	"17"	"48267356"	"48267415"	"del"	"0"	"03704"	"COL1A1_000495"	"g.48267356_48267415del"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189995_50190054del"	""	"pathogenic"	""
"0000706152"	"0"	"99"	"17"	"48267397"	"48267412"	"del"	"0"	"03704"	"COL1A1_000330"	"g.48267397_48267412del"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	"rs74315116"	"0"	""	""	"g.50190036_50190051del"	""	"pathogenic"	""
"0000706153"	"0"	"99"	"17"	"48267406"	"48267406"	"subst"	"0"	"00085"	"COL1A1_000156"	"g.48267406C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72653131"	"0"	""	""	"g.50190045C>T"	""	"pathogenic"	""
"0000706154"	"0"	"99"	"17"	"48267406"	"48267406"	"subst"	"0"	"00085"	"COL1A1_000156"	"g.48267406C>T"	""	"{PMID:Nuytinck et al., 1996:8786074}"	""	""	""	"Unknown"	""	"rs72653131"	"0"	""	""	"g.50190045C>T"	""	"pathogenic"	""
"0000706155"	"0"	"99"	"17"	"48267406"	"48267406"	"subst"	"0"	"03879"	"COL1A1_000156"	"g.48267406C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72653131"	"0"	""	""	"g.50190045C>T"	""	"pathogenic"	""
"0000706156"	"0"	"99"	"17"	"48267406"	"48267406"	"subst"	"0"	"03870"	"COL1A1_000820"	"g.48267406C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190045C>G"	""	"pathogenic"	""
"0000706157"	"0"	"99"	"17"	"48267405"	"48267405"	"subst"	"0"	"00085"	"COL1A1_000157"	"g.48267405C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs72653132"	"0"	""	""	"g.50190044C>T"	""	"pathogenic"	""
"0000706158"	"20"	"99"	"17"	"48267403"	"48267403"	"del"	"0"	"00085"	"COL1A1_001043"	"g.48267403del"	""	"{PMID:Ackermann and Levine, 2017:28436160}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190042del"	""	"pathogenic"	""
"0000706159"	"0"	"99"	"17"	"48267403"	"48267403"	"dup"	"0"	"03704"	"COL1A1_000331"	"g.48267403dup"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190042dup"	""	"pathogenic"	""
"0000706160"	"0"	"99"	"17"	"48267398"	"48267398"	"del"	"0"	"00085"	"COL1A1_000326"	"g.48267398del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic"	""
"0000706161"	"0"	"99"	"17"	"48267398"	"48267398"	"del"	"0"	"03855"	"COL1A1_000326"	"g.48267398del"	""	""	""	""	""	"Unknown"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic"	""
"0000706162"	"0"	"99"	"17"	"48267398"	"48267398"	"del"	"0"	"03870"	"COL1A1_000326"	"g.48267398del"	""	""	""	""	""	"Unknown"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic"	""
"0000706163"	"0"	"99"	"17"	"48267398"	"48267398"	"del"	"0"	"00085"	"COL1A1_000326"	"g.48267398del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic"	""
"0000706164"	"0"	"99"	"17"	"48267398"	"48267398"	"del"	"0"	"00085"	"COL1A1_000326"	"g.48267398del"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic"	""
"0000706165"	"0"	"99"	"17"	"48267398"	"48267398"	"del"	"0"	"00085"	"COL1A1_000326"	"g.48267398del"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic"	""
"0000706166"	"10"	"95"	"17"	"48267398"	"48267398"	"del"	"0"	"03897"	"COL1A1_000326"	"g.48267398del"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"VUS"	""
"0000706167"	"0"	"99"	"17"	"48267397"	"48267397"	"subst"	"0"	"03704"	"COL1A1_000158"	"g.48267397C>G"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653134"	"0"	""	""	"g.50190036C>G"	""	"pathogenic"	""
"0000706168"	"0"	"99"	"17"	"48267397"	"48267397"	"subst"	"0"	"03704"	"COL1A1_000158"	"g.48267397C>G"	""	"{PMID:Culbert et al., 1995:7487936}"	""	""	""	"Unknown"	""	"rs72653134"	"0"	""	""	"g.50190036C>G"	""	"pathogenic"	""
"0000706169"	"0"	"99"	"17"	"48267397"	"48267397"	"del"	"0"	"03879"	"COL1A1_000851"	"g.48267397del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190036del"	""	"pathogenic"	""
"0000706170"	"21"	"99"	"17"	"48267397"	"48267397"	"del"	"0"	"03879"	"COL1A1_000851"	"g.48267397del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190036del"	""	"pathogenic"	""
"0000706171"	"21"	"99"	"17"	"48267397"	"48267397"	"del"	"0"	"03879"	"COL1A1_000851"	"g.48267397del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190036del"	""	"pathogenic"	""
"0000706172"	"0"	"99"	"17"	"48267396"	"48267396"	"subst"	"0"	"03704"	"COL1A1_000159"	"g.48267396C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653135"	"0"	""	""	"g.50190035C>T"	""	"pathogenic"	""
"0000706173"	"0"	"99"	"17"	"48267388"	"48267388"	"subst"	"0"	"03704"	"COL1A1_000160"	"g.48267388C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653136"	"0"	""	""	"g.50190027C>T"	""	"pathogenic"	""
"0000706174"	"0"	"99"	"17"	"48267388"	"48267388"	"subst"	"0"	"00085"	"COL1A1_000160"	"g.48267388C>T"	""	"{PMID:Bateman et al., 1988:3403550}"	""	""	""	"Unknown"	""	"rs72653136"	"0"	""	""	"g.50190027C>T"	""	"pathogenic"	""
"0000706175"	"0"	"99"	"17"	"48267388"	"48267388"	"subst"	"0"	"03704"	"COL1A1_000160"	"g.48267388C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	"rs72653136"	"0"	""	""	"g.50190027C>T"	""	"pathogenic"	""
"0000706176"	"0"	"99"	"17"	"48267388"	"48267388"	"subst"	"0"	"00085"	"COL1A1_000160"	"g.48267388C>T"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	"rs72653136"	"0"	""	""	"g.50190027C>T"	""	"pathogenic"	""
"0000706177"	"0"	"99"	"17"	"48267388"	"48267388"	"subst"	"0"	"03704"	"COL1A1_000484"	"g.48267388C>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190027C>G"	""	"pathogenic"	""
"0000706178"	"0"	"99"	"17"	"48267379"	"48267379"	"subst"	"0"	"03704"	"COL1A1_000485"	"g.48267379C>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190018C>G"	""	"pathogenic"	""
"0000706179"	"0"	"95"	"17"	"48267375"	"48267376"	"dup"	"0"	"03897"	"COL1A1_001319"	"g.48267375_48267376dup"	""	"{PMID:Zhytnik 2019:31447884}"	""	"2548_2549dupC"	"incorrectly as 2548_2549dupC"	"Germline"	""	""	"0"	""	""	"g.50190014_50190015dup"	""	"VUS"	""
"0000706180"	"11"	"99"	"17"	"48267372"	"48267372"	"del"	"0"	"03879"	"COL1A1_000854"	"g.48267372del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706181"	"11"	"99"	"17"	"48267372"	"48267372"	"del"	"0"	"03879"	"COL1A1_000854"	"g.48267372del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706182"	"11"	"99"	"17"	"48267376"	"48267376"	"del"	"0"	"03879"	"COL1A1_000854"	"g.48267376del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190015del"	""	"pathogenic"	""
"0000706183"	"0"	"99"	"17"	"48267371"	"48267371"	"del"	"0"	"03870"	"COL1A1_000650"	"g.48267371del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190010del"	""	"pathogenic"	""
"0000706184"	"20"	"99"	"17"	"48267371"	"48267371"	"del"	"0"	"03879"	"COL1A1_000650"	"g.48267371del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190010del"	""	"pathogenic"	""
"0000706185"	"0"	"99"	"17"	"48267371"	"48267371"	"dup"	"0"	"00085"	"COL1A1_000328"	"g.48267371dup"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190010dup"	""	"pathogenic"	""
"0000706186"	"11"	"99"	"17"	"48267369"	"48267369"	"subst"	"0"	"03704"	"COL1A1_000161"	"g.48267369C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653137"	"0"	""	""	"g.50190008C>T"	""	"pathogenic"	""
"0000706187"	"0"	"99"	"17"	"48267369"	"48267369"	"subst"	"0"	"03704"	"COL1A1_000161"	"g.48267369C>T"	""	"{Localcohn_et_al_1990c.pdf:Cohn et al., 1990}"	""	""	""	"Unknown"	""	"rs72653137"	"0"	""	""	"g.50190008C>T"	""	"pathogenic"	""
"0000706188"	"0"	"99"	"17"	"48267368"	"48267369"	"delins"	"0"	"03855"	"COL1A1_000603"	"g.48267368_48267369delinsAA"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190007_50190008delinsAA"	""	"pathogenic"	""
"0000706189"	"0"	"99"	"17"	"48267361"	"48267361"	"subst"	"0"	"00085"	"COL1A1_000698"	"g.48267361C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190000C>T"	""	"pathogenic"	""
"0000706190"	"0"	"99"	"17"	"48267361"	"48267361"	"subst"	"0"	"01819"	"COL1A1_000698"	"g.48267361C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190000C>T"	""	"pathogenic"	""
"0000706191"	"0"	"99"	"17"	"48267361"	"48267361"	"subst"	"0"	"00085"	"COL1A1_000698"	"g.48267361C>T"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50190000C>T"	""	"pathogenic"	""
"0000706192"	"0"	"99"	"17"	"48267360"	"48267360"	"subst"	"0"	"03855"	"COL1A1_000624"	"g.48267360A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189999A>G"	""	"pathogenic"	""
"0000706193"	"0"	"99"	"17"	"48267357"	"48267357"	"subst"	"0"	"00085"	"COL1A1_000433"	"g.48267357C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72653138"	"0"	""	""	"g.50189996C>T"	""	"pathogenic"	""
"0000706194"	"0"	"99"	"17"	"48267274"	"48267274"	"subst"	"0"	"00085"	"COL1A1_000434"	"g.48267274C>T"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs72653139"	"0"	""	""	"g.50189913C>T"	""	"pathogenic"	""
"0000706195"	"0"	"99"	"17"	"48267274"	"48267274"	"subst"	"0"	"00085"	"COL1A1_000434"	"g.48267274C>T"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs72653139"	"0"	""	""	"g.50189913C>T"	""	"pathogenic"	""
"0000706196"	"0"	"99"	"17"	"48267273"	"48267273"	"subst"	"0"	"00085"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72653140"	"0"	""	""	"g.50189912C>T"	""	"pathogenic"	""
"0000706197"	"0"	"99"	"17"	"48267273"	"48267273"	"subst"	"0"	"00085"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72653140"	"0"	""	""	"g.50189912C>T"	""	"pathogenic"	""
"0000706198"	"0"	"99"	"17"	"48267273"	"48267273"	"subst"	"0"	"03894"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653140"	"0"	""	""	"g.50189912C>T"	""	"pathogenic"	""
"0000706199"	"0"	"95"	"17"	"48267273"	"48267273"	"subst"	"0"	"03894"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653140"	"0"	""	""	""	""	"VUS"	""
"0000706200"	"0"	"95"	"17"	"48267273"	"48267273"	"subst"	"0"	"03894"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653140"	"0"	""	""	""	""	"VUS"	""
"0000706201"	"0"	"95"	"17"	"48267273"	"48267273"	"subst"	"0"	"03894"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653140"	"0"	""	""	""	""	"VUS"	""
"0000706202"	"0"	"99"	"17"	"48267273"	"48267273"	"subst"	"0"	"00085"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72653140"	"0"	""	""	""	""	"VUS"	""
"0000706203"	"20"	"95"	"17"	"48267273"	"48267273"	"subst"	"0"	"03897"	"COL1A1_000162"	"g.48267273C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs72653140"	"0"	""	""	"g.50189912C>T"	""	"VUS"	""
"0000706204"	"0"	"99"	"17"	"48267273"	"48267273"	"subst"	"0"	"01819"	"COL1A1_000714"	"g.48267273C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189912C>G"	""	"pathogenic"	""
"0000706205"	"0"	"99"	"17"	"48267273"	"48267273"	"subst"	"0"	"03885"	"COL1A1_000963"	"g.48267273C>A"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189912C>A"	""	"pathogenic"	""
"0000706206"	"0"	"99"	"17"	"48267272"	"48267272"	"subst"	"0"	"03855"	"COL1A1_000604"	"g.48267272C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189911C>A"	""	"pathogenic"	""
"0000706207"	"0"	"95"	"17"	"48267268"	"48267271"	"dup"	"0"	"03894"	"COL1A1_001106"	"g.48267268_48267271dup"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706208"	"0"	"55"	"17"	"48267270"	"48267270"	"subst"	"0"	"03704"	"COL1A1_000489"	"g.48267270T>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72653159"	"0"	""	""	"g.50189909T>G"	""	"VUS"	""
"0000706209"	"0"	"99"	"17"	"48267269"	"48267271"	"dup"	"0"	"03704"	"COL1A1_000329"	"g.48267269_48267271dup"	""	"{PMID:Pace et al., 2001:11668615}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189908_50189910dup"	""	"pathogenic"	""
"0000706210"	"0"	"99"	"17"	"48267266"	"48267268"	"del"	"0"	"01819"	"COL1A1_000729"	"g.48267266_48267268del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189905_50189907del"	""	"pathogenic"	""
"0000706211"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"03704"	"COL1A1_000164"	"g.48267264C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706212"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"03853"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706213"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"03856"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706214"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"03855"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706215"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"03865"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706216"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"03865"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706217"	"0"	"59"	"17"	"48267264"	"48267264"	"subst"	"0"	"03865"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706218"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"00085"	"COL1A1_000164"	"g.48267264C>A"	""	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706219"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"03894"	"COL1A1_000164"	"g.48267264C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000706220"	"0"	"99"	"17"	"48267264"	"48267264"	"subst"	"0"	"00085"	"COL1A1_000164"	"g.48267264C>A"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	"rs72653141"	"0"	""	""	""	""	"VUS"	""
"0000706221"	"0"	"99"	"17"	"48267254"	"48267254"	"subst"	"0"	"00085"	"COL1A1_000165"	"g.48267254C>G"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72653142"	"0"	""	""	"g.50189893C>G"	""	"pathogenic"	""
"0000706222"	"0"	"99"	"17"	"48267246"	"48267246"	"subst"	"0"	"01819"	"COL1A1_000715"	"g.48267246C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189885C>A"	""	"pathogenic"	""
"0000706223"	"0"	"99"	"17"	"48267245"	"48267245"	"subst"	"0"	"03855"	"COL1A1_000605"	"g.48267245C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189884C>A"	""	"pathogenic"	""
"0000706224"	"0"	"99"	"17"	"48267245"	"48267245"	"subst"	"0"	"03704"	"COL1A1_000605"	"g.48267245C>A"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189884C>A"	""	"pathogenic"	""
"0000706225"	"0"	"99"	"17"	"48267239"	"48267239"	"dup"	"0"	"03870"	"COL1A1_000661"	"g.48267239dup"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189878dup"	""	"pathogenic"	""
"0000706226"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03704"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706227"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706228"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini, personal communication)"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706229"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Milgrom, personal communication)"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706230"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Horwitz et al., 1999:10086387}"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706231"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Lund et al., 1999:10408781}"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706232"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Witecka et al., 2008:18670065}"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706233"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03853"	"COL1A1_000166"	"g.48267237C>T"	""	""	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706234"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03855"	"COL1A1_000166"	"g.48267237C>T"	""	""	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706235"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03879"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706236"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000706238"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Yin et al., 2018:30131598}"	""	""	""	"Unknown"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic (dominant)"	""
"0000706239"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03704"	"COL1A1_000168"	"g.48267237C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67445413"	"0"	""	""	"g.50189876C>A"	""	"pathogenic"	""
"0000706240"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03704"	"COL1A1_000168"	"g.48267237C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67445413"	"0"	""	""	"g.50189876C>A"	""	"pathogenic"	""
"0000706241"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03704"	"COL1A1_000168"	"g.48267237C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67445413"	"0"	""	""	"g.50189876C>A"	""	"pathogenic"	""
"0000706242"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"00085"	"COL1A1_000168"	"g.48267237C>A"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs67445413"	"0"	""	""	"g.50189876C>A"	""	"pathogenic"	""
"0000706243"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03704"	"COL1A1_000168"	"g.48267237C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs67445413"	"0"	""	""	"g.50189876C>A"	""	"pathogenic"	""
"0000706244"	"0"	"99"	"17"	"48267236"	"48267236"	"subst"	"0"	"01819"	"COL1A1_000716"	"g.48267236C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189875C>G"	""	"pathogenic"	""
"0000706245"	"0"	"99"	"17"	"48267228"	"48267228"	"subst"	"0"	"00085"	"COL1A1_000235"	"g.48267228C>A"	""	"{PMID:Steinmann et al., 1991:1953667}"	""	""	""	"Unknown"	""	"rs72653143"	"0"	""	""	"g.50189867C>A"	""	"pathogenic"	""
"0000706246"	"0"	"99"	"17"	"48267225"	"48267225"	"del"	"0"	"03870"	"COL1A1_000455"	"g.48267225del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189864del"	""	"pathogenic"	""
"0000706247"	"0"	"99"	"17"	"48267225"	"48267225"	"del"	"0"	"00085"	"COL1A1_000455"	"g.48267225del"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189864del"	""	"pathogenic"	""
"0000706248"	"0"	"99"	"17"	"48267225"	"48267225"	"del"	"0"	"00085"	"COL1A1_000455"	"g.48267225del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189864del"	""	"pathogenic"	""
"0000706249"	"0"	"99"	"17"	"48267225"	"48267225"	"del"	"0"	"00085"	"COL1A1_000455"	"g.48267225del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189864del"	""	"pathogenic"	""
"0000706250"	"0"	"99"	"17"	"48267225"	"48267225"	"dup"	"0"	"03870"	"COL1A1_000678"	"g.48267225dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189864dup"	""	"pathogenic"	""
"0000706251"	"0"	"99"	"17"	"48267220"	"48267221"	"del"	"0"	"03870"	"COL1A1_001028"	"g.48267220_48267221del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189859_50189860del"	""	"pathogenic"	""
"0000706252"	"0"	"99"	"17"	"48267220"	"48267220"	"del"	"0"	"00085"	"COL1A1_000334"	"g.48267220del"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72653144"	"0"	""	""	"g.50189859del"	""	"pathogenic"	""
"0000706253"	"0"	"99"	"17"	"48267214"	"48267214"	"subst"	"0"	"03870"	"COL1A1_001029"	"g.48267214A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189853A>G"	""	"pathogenic"	""
"0000706254"	"0"	"95"	"17"	"48267214"	"48267214"	"subst"	"0"	"03894"	"COL1A1_001029"	"g.48267214A>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"effect on splicing predicted from mini gene splicing assay"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706255"	"10"	"95"	"17"	"48267214"	"48267214"	"subst"	"0"	"03897"	"COL1A1_001029"	"g.48267214A>G"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189853A>G"	""	"VUS"	""
"0000706256"	"0"	"99"	"17"	"48267094"	"48267094"	"subst"	"0"	"03853"	"COL1A1_000553"	"g.48267094C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189733C>T"	""	"pathogenic"	""
"0000706257"	"0"	"79"	"17"	"48267035"	"48267035"	"subst"	"0"	"03885"	"COL1A1_000964"	"g.48267035C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189674C>T"	""	"pathogenic"	""
"0000706258"	"0"	"99"	"17"	"48267092"	"48267092"	"subst"	"0"	"00085"	"COL1A1_000829"	"g.48267092C>G"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189731C>G"	""	"pathogenic"	""
"0000706259"	"0"	"99"	"17"	"48267084"	"48267084"	"subst"	"0"	"03704"	"COL1A1_000171"	"g.48267084C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653145"	"0"	""	""	"g.50189723C>T"	""	"pathogenic"	""
"0000706260"	"0"	"99"	"17"	"48267084"	"48267084"	"subst"	"0"	"03704"	"COL1A1_000171"	"g.48267084C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72653145"	"0"	""	""	"g.50189723C>T"	""	"pathogenic"	""
"0000706261"	"0"	"99"	"17"	"48267075"	"48267075"	"subst"	"0"	"03704"	"COL1A1_000172"	"g.48267075C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653146"	"0"	""	""	"g.50189714C>T"	""	"pathogenic"	""
"0000706262"	"0"	"99"	"17"	"48267074"	"48267074"	"subst"	"0"	"03861"	"COL1A1_000750"	"g.48267074C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189713C>T"	""	"pathogenic"	""
"0000706263"	"0"	"99"	"17"	"48267065"	"48267065"	"subst"	"0"	"01819"	"COL1A1_000717"	"g.48267065C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189704C>A"	""	"pathogenic"	""
"0000706264"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"00085"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706265"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"03855"	"COL1A1_000236"	"g.48267063G>A"	""	""	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706266"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"03855"	"COL1A1_000236"	"g.48267063G>A"	""	""	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706267"	"2"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"03855"	"COL1A1_000236"	"g.48267063G>A"	""	""	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706268"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"00085"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706269"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"03870"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706270"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"00085"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706271"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"03872"	"COL1A1_000236"	"g.48267063G>A"	""	""	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706272"	"0"	"99"	"17"	"48267063"	"48267063"	"subst"	"0"	"00085"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic"	""
"0000706273"	"0"	"95"	"17"	"48267063"	"48267063"	"subst"	"0"	"03894"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653147"	"0"	""	""	""	""	"VUS"	""
"0000706274"	"0"	"99"	"17"	"48267046"	"48267064"	"dup"	"0"	"00085"	"COL1A1_000825"	"g.48267046_48267064dup"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189685_50189703dup"	""	"pathogenic"	""
"0000706275"	"0"	"99"	"17"	"48267061"	"48267062"	"del"	"0"	"00085"	"COL1A1_000332"	"g.48267061_48267062del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72653148"	"0"	""	""	"g.50189700_50189701del"	""	"pathogenic"	""
"0000706276"	"0"	"99"	"17"	"48267057"	"48267057"	"subst"	"0"	"03704"	"COL1A1_000487"	"g.48267057C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189696C>T"	""	"pathogenic"	""
"0000706277"	"0"	"99"	"17"	"48267057"	"48267057"	"subst"	"0"	"03704"	"COL1A1_000487"	"g.48267057C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189696C>T"	""	"pathogenic"	""
"0000706278"	"0"	"99"	"17"	"48267048"	"48267048"	"subst"	"0"	"03704"	"COL1A1_000173"	"g.48267048C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653149"	"0"	""	""	"g.50189687C>T"	""	"pathogenic"	""
"0000706279"	"0"	"99"	"17"	"48267039"	"48267039"	"subst"	"0"	"00085"	"COL1A1_000436"	"g.48267039C>T"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72653150"	"0"	""	""	"g.50189678C>T"	""	"pathogenic"	""
"0000706280"	"0"	"99"	"17"	"48267039"	"48267039"	"subst"	"0"	"01819"	"COL1A1_000436"	"g.48267039C>T"	""	""	""	""	""	"Unknown"	""	"rs72653150"	"0"	""	""	"g.50189678C>T"	""	"pathogenic"	""
"0000706281"	"10"	"79"	"17"	"48267038"	"48267038"	"subst"	"0"	"03861"	"COL1A1_000781"	"g.48267038A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189677A>C"	""	"pathogenic"	""
"0000706282"	"0"	"99"	"17"	"48267036"	"48267039"	"del"	"0"	"03879"	"COL1A1_000882"	"g.48267036_48267039del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189675_50189678del"	""	"pathogenic"	""
"0000706283"	"0"	"99"	"17"	"48266900"	"48266900"	"subst"	"0"	"01819"	"COL1A1_000730"	"g.48266900C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189539C>T"	""	"pathogenic"	""
"0000706284"	"0"	"99"	"17"	"48266900"	"48266900"	"subst"	"0"	"01819"	"COL1A1_000730"	"g.48266900C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189539C>T"	""	"pathogenic"	""
"0000706285"	"0"	"99"	"17"	"48266900"	"48266900"	"subst"	"0"	"03879"	"COL1A1_000730"	"g.48266900C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189539C>T"	""	"pathogenic"	""
"0000706286"	"20"	"99"	"17"	"48266900"	"48266900"	"subst"	"0"	"03856"	"COL1A1_000548"	"g.48266900C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189539C>A"	""	"pathogenic"	""
"0000706287"	"0"	"99"	"17"	"48266900"	"48266900"	"subst"	"0"	"03870"	"COL1A1_000548"	"g.48266900C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189539C>A"	""	"pathogenic"	""
"0000706288"	"0"	"99"	"17"	"48264375"	"48266900"	"del"	"0"	"03704"	"COL1A1_000499"	"g.(48264284_48264375)_(48266900_48267039)del"	""	"{PMID:Bodian et al., 2009:18996919}"	""	"2668-?_3531+?del"	""	"Unknown"	""	""	"0"	""	""	"g.(50186923_50187014)_(50189539_50189678)del"	""	"pathogenic"	""
"0000706289"	"0"	"99"	"17"	"48266836"	"48266836"	"del"	"0"	"03885"	"COL1A1_000966"	"g.48266836del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189475del"	""	"pathogenic"	""
"0000706290"	"0"	"99"	"17"	"48266887"	"48266887"	"del"	"0"	"00085"	"COL1A1_000280"	"g.48266887del"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72653151"	"0"	""	""	"g.50189526del"	""	"pathogenic"	""
"0000706291"	"0"	"99"	"17"	"48266887"	"48266887"	"del"	"0"	"00085"	"COL1A1_000280"	"g.48266887del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72653151"	"0"	""	""	"g.50189526del"	""	"pathogenic"	""
"0000706292"	"0"	"99"	"17"	"48266887"	"48266887"	"dup"	"0"	"03885"	"COL1A1_000965"	"g.48266887dup"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189526dup"	""	"pathogenic"	""
"0000706293"	"0"	"99"	"17"	"48266887"	"48266887"	"dup"	"0"	"03870"	"COL1A1_000965"	"g.48266887dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189526dup"	""	"pathogenic"	""
"0000706294"	"0"	"99"	"17"	"48266887"	"48266887"	"dup"	"0"	"03870"	"COL1A1_000965"	"g.48266887dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189526dup"	""	"pathogenic"	""
"0000706295"	"0"	"99"	"17"	"48266881"	"48266881"	"subst"	"0"	"03704"	"COL1A1_000174"	"g.48266881C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653152"	"0"	""	""	"g.50189520C>A"	""	"pathogenic"	""
"0000706296"	"0"	"99"	"17"	"48266881"	"48266881"	"subst"	"0"	"03704"	"COL1A1_000174"	"g.48266881C>A"	""	"{PMID:Starman et al., 1989:2794057}"	""	""	""	"Unknown"	""	"rs72653152"	"0"	""	""	"g.50189520C>A"	""	"pathogenic"	""
"0000706297"	"0"	"99"	"17"	"48266880"	"48266880"	"subst"	"0"	"03704"	"COL1A1_000488"	"g.48266880C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189519C>T"	""	"pathogenic"	""
"0000706298"	"0"	"95"	"17"	"48266863"	"48266863"	"subst"	"0"	"03894"	"COL1A1_001130"	"g.48266863C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706299"	"0"	"91"	"17"	"48266851"	"48266851"	"subst"	"0.000175246"	"03855"	"COL1A1_000607"	"g.48266851C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189490C>T"	""	"VUS"	""
"0000706300"	"11"	"99"	"17"	"48266837"	"48266845"	"del"	"0"	"03704"	"COL1A1_000333"	"g.48266837_48266845del"	""	"{PMID:Pace et al., 2001:11668615}"	""	""	""	"Unknown"	""	"rs74315136"	"0"	""	""	"g.50189476_50189484del"	""	"pathogenic"	""
"0000706301"	"0"	"99"	"17"	"48266836"	"48266836"	"subst"	"0"	"00085"	"COL1A1_000817"	"g.48266836C>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189475C>T"	""	"pathogenic"	""
"0000706302"	"0"	"99"	"17"	"48266818"	"48266818"	"del"	"0"	"00085"	"COL1A1_001295"	"g.48266818del"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189457del"	""	"pathogenic"	""
"0000706303"	"0"	"99"	"17"	"48266817"	"48266817"	"subst"	"0"	"03704"	"COL1A1_000175"	"g.48266817C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653153"	"0"	""	""	"g.50189456C>T"	""	"pathogenic"	""
"0000706304"	"0"	"99"	"17"	"48266797"	"48266797"	"del"	"0"	"03855"	"COL1A1_000606"	"g.48266797del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189436del"	""	"pathogenic"	""
"0000706305"	"0"	"99"	"17"	"48266792"	"48266792"	"del"	"0"	"03872"	"COL1A1_000889"	"g.48266792del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189431del"	""	"pathogenic"	""
"0000706306"	"0"	"99"	"17"	"48266792"	"48266792"	"del"	"0"	"00085"	"COL1A1_000889"	"g.48266792del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189431del"	""	"pathogenic"	""
"0000706307"	"0"	"95"	"17"	"48266792"	"48266792"	"del"	"0"	"03894"	"COL1A1_000889"	"g.48266792del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706308"	"0"	"99"	"17"	"48266792"	"48266792"	"del"	"0"	"00085"	"COL1A1_000889"	"g.48266792del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706309"	"0"	"99"	"17"	"48266791"	"48266791"	"subst"	"0"	"00085"	"COL1A1_000237"	"g.48266791C>A"	""	"{PMID:Vogel et al., 1987:3667599}"	""	""	""	"Unknown"	""	"rs72653154"	"0"	""	""	"g.50189430C>A"	""	"pathogenic"	""
"0000706310"	"0"	"99"	"17"	"48266783"	"48266783"	"del"	"0"	"00085"	"COL1A1_000282"	"g.48266783del"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72653155"	"0"	""	""	"g.50189422del"	""	"pathogenic"	""
"0000706311"	"0"	"99"	"17"	"48266783"	"48266783"	"del"	"0"	"00085"	"COL1A1_000282"	"g.48266783del"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs72653155"	"0"	""	""	"g.50189422del"	""	"pathogenic"	""
"0000706312"	"0"	"99"	"17"	"48266783"	"48266783"	"del"	"0"	"03855"	"COL1A1_000282"	"g.48266783del"	""	""	""	""	""	"Unknown"	""	"rs72653155"	"0"	""	""	"g.50189422del"	""	"pathogenic"	""
"0000706313"	"0"	"95"	"17"	"48266783"	"48266783"	"del"	"0"	"03894"	"COL1A1_000282"	"g.48266783del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653155"	"0"	""	""	""	""	"VUS"	""
"0000706314"	"0"	"95"	"17"	"48266783"	"48266783"	"del"	"0"	"03894"	"COL1A1_000282"	"g.48266783del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653155"	"0"	""	""	""	""	"VUS"	""
"0000706315"	"0"	"99"	"17"	"48266772"	"48266772"	"subst"	"0"	"01819"	"COL1A1_000718"	"g.48266772C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189411C>T"	""	"pathogenic"	""
"0000706316"	"0"	"99"	"17"	"48266760"	"48266760"	"dup"	"0"	"03882"	"COL1A1_000929"	"g.48266760dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189399dup"	""	"pathogenic"	""
"0000706317"	"10"	"95"	"17"	"48266746"	"48266746"	"del"	"0"	"03897"	"COL1A1_001305"	"g.48266746del"	""	"{PMID:Zhytnik 2019:31447884}"	""	"2821delG"	""	"Germline"	""	""	"0"	""	""	"g.50189385del"	""	"VUS"	""
"0000706318"	"0"	"99"	"17"	"48266737"	"48266737"	"subst"	"0"	"00085"	"COL1A1_000435"	"g.48266737C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72653156"	"0"	""	""	"g.50189376C>T"	""	"pathogenic"	""
"0000706319"	"11"	"99"	"17"	"48266737"	"48266737"	"subst"	"0"	"03870"	"COL1A1_000435"	"g.48266737C>T"	""	""	""	""	""	"Unknown"	""	"rs72653156"	"0"	""	""	"g.50189376C>T"	""	"pathogenic"	""
"0000706320"	"0"	"99"	"17"	"48266737"	"48266737"	"subst"	"0"	"03870"	"COL1A1_000435"	"g.48266737C>T"	""	""	""	""	""	"Unknown"	""	"rs72653156"	"0"	""	""	"g.50189376C>T"	""	"pathogenic"	""
"0000706321"	"0"	"95"	"17"	"48266737"	"48266737"	"subst"	"0"	"03894"	"COL1A1_001100"	"g.48266737C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706322"	"0"	"99"	"17"	"48266735"	"48266735"	"subst"	"0"	"00085"	"COL1A1_000437"	"g.48266735T>G"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72653157"	"0"	""	""	"g.50189374T>G"	""	"pathogenic"	""
"0000706323"	"0"	"99"	"17"	"48266733"	"48266733"	"subst"	"0"	"01819"	"COL1A1_000731"	"g.48266733C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189372C>T"	""	"pathogenic"	""
"0000706324"	"0"	"99"	"17"	"48266639"	"48266639"	"subst"	"0"	"01819"	"COL1A1_000732"	"g.48266639T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189278T>C"	""	"pathogenic"	""
"0000706325"	"0"	"59"	"17"	"48266639"	"48266639"	"subst"	"0"	"03881"	"COL1A1_000732"	"g.48266639T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189278T>C"	""	"pathogenic"	""
"0000706326"	"0"	"99"	"17"	"48266637"	"48266637"	"subst"	"0"	"00085"	"COL1A1_001080"	"g.48266637C>T"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189276C>T"	""	"pathogenic"	""
"0000706327"	"0"	"99"	"17"	"48266636"	"48266636"	"subst"	"0"	"03704"	"COL1A1_000176"	"g.48266636C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653158"	"0"	""	""	"g.50189275C>A"	""	"pathogenic"	""
"0000706328"	"0"	"99"	"17"	"48266627"	"48266627"	"subst"	"0"	"00085"	"COL1A1_000177"	"g.48266627C>A"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72653159"	"0"	""	""	"g.50189266C>A"	""	"pathogenic"	""
"0000706329"	"0"	"99"	"17"	"48266627"	"48266627"	"subst"	"0"	"03704"	"COL1A1_000177"	"g.48266627C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72653159"	"0"	""	""	"g.50189266C>A"	""	"pathogenic"	""
"0000706330"	"0"	"99"	"17"	"48266618"	"48266618"	"subst"	"0"	"03704"	"COL1A1_000178"	"g.48266618C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653160"	"0"	""	""	"g.50189257C>T"	""	"pathogenic"	""
"0000706331"	"0"	"99"	"17"	"48266618"	"48266618"	"dup"	"0"	"00085"	"COL1A1_001073"	"g.48266618dup"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189257dup"	""	"pathogenic"	""
"0000706332"	"0"	"99"	"17"	"48266618"	"48266618"	"dup"	"0"	"00085"	"COL1A1_001073"	"g.48266618dup"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189257dup"	""	"pathogenic"	""
"0000706333"	"0"	"99"	"17"	"48266618"	"48266618"	"dup"	"0"	"00085"	"COL1A1_001073"	"g.48266618dup"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189257dup"	""	"pathogenic"	""
"0000706334"	"0"	"99"	"17"	"48266599"	"48266599"	"subst"	"0"	"00085"	"COL1A1_001278"	"g.48266599C>G"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706335"	"0"	"99"	"17"	"48266597"	"48266597"	"subst"	"0"	"03704"	"COL1A1_000238"	"g.48266597G>A"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72653161"	"0"	""	""	"g.50189236G>A"	""	"pathogenic"	""
"0000706336"	"0"	"99"	"17"	"48266597"	"48266597"	"subst"	"0"	"03855"	"COL1A1_000238"	"g.48266597G>A"	""	""	""	""	""	"Unknown"	""	"rs72653161"	"0"	""	""	"g.50189236G>A"	""	"pathogenic"	""
"0000706337"	"11"	"99"	"17"	"48266597"	"48266597"	"subst"	"0"	"03862"	"COL1A1_000238"	"g.48266597G>A"	""	"Nadyrshina et al., 2012 Russ J Genet 48:321-328. {PMID:Nadyrshina et al., 2012:22679784}"	""	""	""	"Unknown"	""	"rs72653161"	"0"	""	""	"g.50189236G>A"	""	"pathogenic"	""
"0000706338"	"0"	"99"	"17"	"48266597"	"48266597"	"subst"	"0"	"03878"	"COL1A1_000238"	"g.48266597G>A"	""	""	""	""	""	"Unknown"	""	"rs72653161"	"0"	""	""	"g.50189236G>A"	""	"pathogenic"	""
"0000706339"	"0"	"99"	"17"	"48266593"	"48266596"	"del"	"0"	"03870"	"COL1A1_001030"	"g.48266593_48266596del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189232_50189235del"	""	"pathogenic"	""
"0000706340"	"0"	"99"	"17"	"48266593"	"48266593"	"subst"	"0"	"00085"	"COL1A1_000239"	"g.48266593C>A"	""	"{ASHG06:30366:Sun et al., 2006}"	""	""	""	"Unknown"	""	"rs72653162"	"0"	""	""	"g.50189232C>A"	""	"pathogenic"	""
"0000706341"	"0"	"97"	"17"	"48266593"	"48266593"	"subst"	"0"	"00085"	"COL1A1_000239"	"g.48266593C>A"	""	"{PMID:Makareeva et al., 2019:29990383}"	""	""	""	"Unknown"	""	"rs72653162"	"0"	""	""	""	""	"VUS"	""
"0000706342"	"11"	"99"	"17"	"48266589"	"48266589"	"del"	"0"	"03872"	"COL1A1_000821"	"g.48266589del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189228del"	""	"pathogenic"	""
"0000706343"	"0"	"99"	"17"	"48266586"	"48266586"	"del"	"0"	"03879"	"COL1A1_000848"	"g.48266586del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189225del"	""	"pathogenic"	""
"0000706344"	"0"	"99"	"17"	"48266581"	"48266581"	"subst"	"0"	"00085"	"COL1A1_000179"	"g.48266581C>T"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs72653163"	"0"	""	""	"g.50189220C>T"	""	"pathogenic"	""
"0000706345"	"0"	"95"	"17"	"48266555"	"48266558"	"del"	"0"	"03894"	"COL1A1_001129"	"g.48266555_48266558del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706346"	"21"	"99"	"17"	"48266544"	"48266553"	"del"	"0"	"00475"	"COL1A1_000644"	"g.48266544_48266553del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189183_50189192del"	""	"pathogenic"	""
"0000706347"	"0"	"99"	"17"	"48266545"	"48266545"	"subst"	"0"	"00085"	"COL1A1_000180"	"g.48266545C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72653164"	"0"	""	""	"g.50189184C>T"	""	"pathogenic"	""
"0000706348"	"0"	"99"	"17"	"48266545"	"48266545"	"subst"	"0"	"00085"	"COL1A1_000521"	"g.48266545C>G"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189184C>G"	""	"pathogenic"	""
"0000706349"	"0"	"99"	"17"	"48266545"	"48266545"	"subst"	"0"	"01819"	"COL1A1_000521"	"g.48266545C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189184C>G"	""	"pathogenic"	""
"0000706350"	"0"	"99"	"17"	"48266545"	"48266545"	"subst"	"0"	"01819"	"COL1A1_000521"	"g.48266545C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189184C>G"	""	"pathogenic"	""
"0000706351"	"0"	"99"	"17"	"48266545"	"48266545"	"subst"	"0"	"03870"	"COL1A1_000521"	"g.48266545C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189184C>G"	""	"pathogenic"	""
"0000706352"	"0"	"99"	"17"	"48266536"	"48266536"	"subst"	"0"	"03704"	"COL1A1_000490"	"g.48266536C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189175C>T"	""	"pathogenic"	""
"0000706353"	"1"	"35"	"17"	"48266534"	"48266534"	"subst"	"0.000138659"	"03855"	"COL1A1_000622"	"g.48266534G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189173G>A"	""	"VUS"	""
"0000706354"	"0"	"99"	"17"	"48266535"	"48266535"	"del"	"0"	"03879"	"COL1A1_000864"	"g.48266535del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189174del"	""	"pathogenic"	""
"0000706355"	"11"	"99"	"17"	"48266535"	"48266535"	"del"	"0"	"03879"	"COL1A1_000864"	"g.48266535del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189174del"	""	"pathogenic"	""
"0000706356"	"0"	"99"	"17"	"48266531"	"48266531"	"del"	"0"	"03870"	"COL1A1_001031"	"g.48266531del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189170del"	""	"pathogenic"	""
"0000706357"	"0"	"99"	"17"	"48266527"	"48266527"	"subst"	"0"	"01819"	"COL1A1_000733"	"g.48266527A>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50189166A>T"	""	"pathogenic"	""
"0000706358"	"0"	"99"	"17"	"48266525"	"48266525"	"subst"	"0"	"00085"	"COL1A1_000438"	"g.48266525T>G"	""	"{PMID:Cabral et al., 2002:11706004}"	""	""	""	"Unknown"	""	"rs72653165"	"0"	""	""	"g.50189164T>G"	""	"pathogenic"	""
"0000706359"	"0"	"95"	"17"	"48266262"	"48266273"	"del"	"0"	"03894"	"COL1A1_001300"	"g.48266262_48266273del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"effect on splicing predicted from mini gene splicing assay"	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706360"	"0"	"99"	"17"	"48266370"	"48266370"	"subst"	"0"	"00085"	"COL1A1_000240"	"g.48266370C>A"	""	"{PMID:Bonaventure et al., 1992:1511982}"	""	""	""	"Unknown"	""	"rs72653166"	"0"	""	""	"g.50189009C>A"	""	"pathogenic"	""
"0000706361"	"0"	"99"	"17"	"48266356"	"48266356"	"subst"	"0"	"03870"	"COL1A1_000528"	"g.48266356G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188995G>A"	""	"pathogenic"	""
"0000706362"	"11"	"99"	"17"	"48266353"	"48266353"	"subst"	"0"	"00085"	"COL1A1_001050"	"g.48266353C>T"	""	"{PMID:McVey et al., 2017:28872564}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188992C>T"	""	"pathogenic"	""
"0000706363"	"0"	"99"	"17"	"48266337"	"48266337"	"del"	"0"	"03882"	"COL1A1_000928"	"g.48266337del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188976del"	""	"pathogenic"	""
"0000706364"	"0"	"55"	"17"	"48266328"	"48266328"	"subst"	"2.43807E-5"	"00475"	"COL1A1_000645"	"g.48266328C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188967C>T"	""	"VUS"	""
"0000706365"	"0"	"95"	"17"	"48266324"	"48266324"	"del"	"0"	"03870"	"COL1A1_001032"	"g.48266324del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188963del"	""	"VUS"	""
"0000706366"	"0"	"99"	"17"	"48266323"	"48266323"	"del"	"0"	"03870"	"COL1A1_001033"	"g.48266323del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188962del"	""	"pathogenic"	""
"0000706367"	"0"	"99"	"17"	"48266323"	"48266323"	"del"	"0"	"03870"	"COL1A1_001033"	"g.48266323del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188962del"	""	"pathogenic"	""
"0000706368"	"11"	"99"	"17"	"48266318"	"48266318"	"del"	"0"	"00475"	"COL1A1_000646"	"g.48266318del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188957del"	""	"pathogenic"	""
"0000706369"	"0"	"99"	"17"	"48266318"	"48266318"	"del"	"0"	"03870"	"COL1A1_000646"	"g.48266318del"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188957del"	""	"pathogenic"	""
"0000706370"	"0"	"99"	"17"	"48266318"	"48266318"	"del"	"0"	"00085"	"COL1A1_000646"	"g.48266318del"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188957del"	""	"pathogenic"	""
"0000706371"	"0"	"99"	"17"	"48266318"	"48266318"	"del"	"0"	"03870"	"COL1A1_000646"	"g.48266318del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188957del"	""	"pathogenic"	""
"0000706372"	"0"	"99"	"17"	"48266308"	"48266308"	"subst"	"0"	"03704"	"COL1A1_000181"	"g.48266308C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653167"	"0"	""	""	"g.50188947C>A"	""	"pathogenic"	""
"0000706373"	"0"	"99"	"17"	"48266308"	"48266308"	"subst"	"0"	"03704"	"COL1A1_000181"	"g.48266308C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72653167"	"0"	""	""	"g.50188947C>A"	""	"pathogenic"	""
"0000706374"	"0"	"99"	"17"	"48266306"	"48266306"	"del"	"0"	"00085"	"COL1A1_000335"	"g.48266306del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic"	""
"0000706375"	"0"	"99"	"17"	"48266306"	"48266306"	"del"	"0"	"00085"	"COL1A1_000335"	"g.48266306del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic"	""
"0000706376"	"0"	"99"	"17"	"48266306"	"48266306"	"del"	"0"	"03855"	"COL1A1_000335"	"g.48266306del"	""	""	""	""	""	"Unknown"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic"	""
"0000706377"	"21"	"99"	"17"	"48266306"	"48266306"	"del"	"0"	"03870"	"COL1A1_000335"	"g.48266306del"	""	""	""	""	""	"Unknown"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic"	""
"0000706378"	"0"	"99"	"17"	"48266306"	"48266306"	"del"	"0"	"03879"	"COL1A1_000335"	"g.48266306del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic"	""
"0000706379"	"0"	"99"	"17"	"48266306"	"48266306"	"del"	"0"	"03870"	"COL1A1_000335"	"g.48266306del"	""	""	""	""	""	"Unknown"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic"	""
"0000706380"	"0"	"99"	"17"	"48266306"	"48266306"	"del"	"0"	"03894"	"COL1A1_000335"	"g.48266306del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic"	""
"0000706381"	"0"	"99"	"17"	"48266306"	"48266306"	"dup"	"0"	"03853"	"COL1A1_000458"	"g.48266306dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188945dup"	""	"pathogenic"	""
"0000706382"	"0"	"99"	"17"	"48266306"	"48266306"	"dup"	"0"	"03855"	"COL1A1_000458"	"g.48266306dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188945dup"	""	"pathogenic"	""
"0000706383"	"0"	"99"	"17"	"48266306"	"48266306"	"dup"	"0"	"03870"	"COL1A1_000458"	"g.48266306dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188945dup"	""	"pathogenic"	""
"0000706384"	"0"	"99"	"17"	"48266287"	"48266287"	"del"	"0"	"03853"	"COL1A1_000651"	"g.48266287del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188926del"	""	"pathogenic"	""
"0000706385"	"0"	"99"	"17"	"48266287"	"48266287"	"del"	"0"	"03879"	"COL1A1_000651"	"g.48266287del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188926del"	""	"pathogenic"	""
"0000706386"	"0"	"99"	"17"	"48266282"	"48266282"	"del"	"0"	"00085"	"COL1A1_000525"	"g.48266282del"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188921del"	""	"pathogenic"	""
"0000706387"	"0"	"99"	"17"	"48266281"	"48266281"	"subst"	"0"	"00085"	"COL1A1_000241"	"g.48266281C>T"	""	"{PMID:Marini et al., 1989:2745420}"	""	""	""	"Unknown"	""	"rs72653169"	"0"	""	""	"g.50188920C>T"	""	"pathogenic"	""
"0000706388"	"0"	"33"	"17"	"48266276"	"48266276"	"subst"	"0"	"03855"	"COL1A1_000630"	"g.48266276T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188915T>A"	""	"benign"	""
"0000706389"	"0"	"99"	"17"	"48266271"	"48266271"	"subst"	"0"	"03870"	"COL1A1_001034"	"g.48266271C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188910C>T"	""	"pathogenic"	""
"0000706390"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Gensure et al., 2005:15864348}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706391"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Suphapeetiporn et al., 2007:17309652}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706392"	"21"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Gensure et al., 2005:15864348}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706393"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Gensure et al., 2005:15864348}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706394"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Kamoun-Goldrat et al., 2008:18553566}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706395"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Cho et al., 2008:18704262}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706396"	"10"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Cho et al., 2008:18704262}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706397"	"10"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Cho et al., 2008:18704262}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706398"	"21"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Cho et al., 2008:18704262}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706399"	"11"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Cho et al., 2008:18704262}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706400"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"03853"	"COL1A1_000242"	"g.48266269G>A"	""	""	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706401"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"03855"	"COL1A1_000242"	"g.48266269G>A"	""	""	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706402"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00475"	"COL1A1_000242"	"g.48266269G>A"	""	""	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706403"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Ranganath et al., 2011:21249479}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706404"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Cerruti-Mainardi et al., 2011:21567126}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706405"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"Blood (ASH Annual Meeting Abstracts) 2005 106: Abstract 736"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706406"	"21"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"03870"	"COL1A1_000242"	"g.48266269G>A"	""	""	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706407"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Navarre et al., 2013:23389580}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706408"	"0"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Prior et al., 2012:23047998}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706409"	"21"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Kitaoka et al., 2014:24390061}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706410"	"21"	"99"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"00085"	"COL1A1_000242"	"g.48266269G>A"	""	"{PMID:Spranger and Lausch, 2016:27245539}"	""	""	""	"Unknown"	""	"rs72653170"	"0"	""	""	"g.50188908G>A"	""	"pathogenic"	""
"0000706411"	"0"	"99"	"17"	"48266263"	"48266263"	"subst"	"0"	"03879"	"COL1A1_000870"	"g.48266263C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188902C>T"	""	"pathogenic"	""
"0000706412"	"0"	"99"	"17"	"48266263"	"48266263"	"subst"	"0"	"03897"	"COL1A1_000870"	"g.48266263C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50188902C>T"	""	"pathogenic"	""
"0000706413"	"0"	"33"	"17"	"48266176"	"48266177"	"dup"	"0"	"00085"	"COL1A1_000738"	"g.48266176_48266177dup"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188815_50188816dup"	""	"benign"	""
"0000706414"	"0"	"99"	"17"	"48266158"	"48266158"	"subst"	"0"	"00085"	"COL1A1_000439"	"g.48266158T>C"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72653171"	"0"	""	""	"g.50188797T>C"	""	"pathogenic"	""
"0000706415"	"0"	"99"	"17"	"48266157"	"48266157"	"subst"	"0"	"00085"	"COL1A1_000441"	"g.48266157C>T"	""	"{PMID:Marini et al., 2007:17078022} (De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs67965463"	"0"	""	""	"g.50188796C>T"	""	"pathogenic"	""
"0000706416"	"0"	"99"	"17"	"48266157"	"48266157"	"subst"	"0"	"00085"	"COL1A1_000440"	"g.48266157C>A"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	"rs67965462"	"0"	""	""	"g.50188796C>A"	""	"pathogenic"	""
"0000706417"	"0"	"99"	"17"	"48266157"	"48266157"	"subst"	"0"	"03855"	"COL1A1_000440"	"g.48266157C>A"	""	""	""	""	""	"Unknown"	""	"rs67965462"	"0"	""	""	"g.50188796C>A"	""	"pathogenic"	""
"0000706418"	"0"	"99"	"17"	"48266157"	"48266157"	"subst"	"0"	"01819"	"COL1A1_000440"	"g.48266157C>A"	""	""	""	""	""	"Unknown"	""	"rs67965462"	"0"	""	""	"g.50188796C>A"	""	"pathogenic"	""
"0000706419"	"0"	"99"	"17"	"48266156"	"48266156"	"subst"	"0"	"01819"	"COL1A1_000719"	"g.48266156C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188795C>G"	""	"pathogenic"	""
"0000706420"	"0"	"99"	"17"	"48266138"	"48266138"	"del"	"0"	"00085"	"COL1A1_000336"	"g.48266138del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs66523074"	"0"	""	""	"g.50188777del"	""	"pathogenic"	""
"0000706421"	"0"	"99"	"17"	"48266138"	"48266138"	"subst"	"0"	"00085"	"COL1A1_000243"	"g.48266138C>T"	""	"{PMID:Pack et al., 1989:251192}"	""	""	""	"Unknown"	""	"rs66523073"	"0"	""	""	"g.50188777C>T"	""	"pathogenic"	""
"0000706422"	"0"	"99"	"17"	"48266138"	"48266138"	"subst"	"0"	"00085"	"COL1A1_000243"	"g.48266138C>T"	""	"{PMID:Chen et al., 2012:23072183}"	""	""	""	"Unknown"	""	"rs66523073"	"0"	""	""	"g.50188777C>T"	""	"pathogenic"	""
"0000706423"	"0"	"99"	"17"	"48266138"	"48266138"	"subst"	"0"	"00085"	"COL1A1_000243"	"g.48266138C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs66523073"	"0"	""	""	"g.50188777C>T"	""	"pathogenic"	""
"0000706424"	"0"	"95"	"17"	"48266138"	"48266138"	"subst"	"0"	"03894"	"COL1A1_000243"	"g.48266138C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs66523073"	"0"	""	""	""	""	"VUS"	""
"0000706425"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"00085"	"COL1A1_000182"	"g.48266137C>G"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67771061"	"0"	""	""	"g.50188776C>G"	""	"pathogenic"	""
"0000706426"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"00085"	"COL1A1_000183"	"g.48266137C>A"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706427"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"00085"	"COL1A1_000183"	"g.48266137C>A"	""	"{PMID:Marini et al., 2007:17078022} (Cohn, Krakow and King, personal communication)"	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706428"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"00085"	"COL1A1_000183"	"g.48266137C>A"	""	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706429"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"03702"	"COL1A1_000183"	"g.48266137C>A"	""	"Lund, personal communication"	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706430"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"03704"	"COL1A1_000183"	"g.48266137C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706431"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"03704"	"COL1A1_000183"	"g.48266137C>A"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706432"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"03870"	"COL1A1_000183"	"g.48266137C>A"	""	""	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706433"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"01819"	"COL1A1_000183"	"g.48266137C>A"	""	""	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706434"	"0"	"99"	"17"	"48266137"	"48266137"	"subst"	"0"	"00085"	"COL1A1_000183"	"g.48266137C>A"	""	"{PMID:Majeed et al., 2019:30942118}"	""	""	""	"Unknown"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic"	""
"0000706435"	"0"	"99"	"17"	"48266131"	"48266132"	"delins"	"0"	"03870"	"COL1A1_001035"	"g.48266131_48266132delinsC"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188770_50188771delinsC"	""	"pathogenic"	""
"0000706436"	"0"	"99"	"17"	"48266129"	"48266129"	"subst"	"0"	"03704"	"COL1A1_000184"	"g.48266129C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653172"	"0"	""	""	"g.50188768C>T"	""	"pathogenic"	""
"0000706437"	"0"	"99"	"17"	"48266129"	"48266129"	"subst"	"0"	"03704"	"COL1A1_000184"	"g.48266129C>T"	""	"{PMID:Wallis et al., 1990:2339700}"	""	""	""	"Unknown"	""	"rs72653172"	"0"	""	""	"g.50188768C>T"	""	"pathogenic"	""
"0000706438"	"0"	"99"	"17"	"48266129"	"48266129"	"del"	"0"	"03855"	"COL1A1_000609"	"g.48266129del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188768del"	""	"pathogenic"	""
"0000706439"	"0"	"99"	"17"	"48266129"	"48266129"	"del"	"0"	"03855"	"COL1A1_000609"	"g.48266129del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188768del"	""	"pathogenic"	""
"0000706440"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Ries et al., 2000:11113887}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706441"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"03704"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706442"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"03704"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706443"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706444"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706445"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"03855"	"COL1A1_000244"	"g.48266126G>A"	""	""	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706446"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"03870"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706447"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706448"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706449"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Niramitmahapanya et al., 2013:23682531}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706450"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706451"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Kaneto et al., 2014:24767406}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706452"	"10"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Duan et al., 2016:27044453}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706453"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"03870"	"COL1A1_000244"	"g.48266126G>A"	""	""	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706454"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"03894"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000706455"	"0"	"95"	"17"	"48266126"	"48266126"	"subst"	"0"	"03894"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	""	""	"VUS"	""
"0000706456"	"0"	"99"	"17"	"48266126"	"48266126"	"subst"	"0"	"00085"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72653173"	"0"	""	""	""	""	"VUS"	""
"0000706457"	"10"	"95"	"17"	"48266126"	"48266126"	"subst"	"0"	"03897"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"VUS"	""
"0000706458"	"0"	"99"	"17"	"48266123"	"48266123"	"del"	"0"	"00085"	"COL1A1_000337"	"g.48266123del"	""	"{PMID:Körkkö et al., 1998:9443882}"	""	""	""	"Unknown"	""	"rs72653174"	"0"	""	""	"g.50188762del"	""	"pathogenic"	""
"0000706459"	"0"	"99"	"17"	"48266120"	"48266120"	"subst"	"0"	"00085"	"COL1A1_000185"	"g.48266120C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72653175"	"0"	""	""	"g.50188759C>T"	""	"pathogenic"	""
"0000706460"	"0"	"99"	"17"	"48265992"	"48265992"	"subst"	"5.69689E-5"	"00085"	"COL1A1_000245"	"g.48265992G>A"	""	"{PMID:Lund et al., 2008:18028452}"	""	""	""	"Unknown"	""	"rs72653177"	"0"	""	""	"g.50188631G>A"	""	"pathogenic"	""
"0000706461"	"0"	"99"	"17"	"48265984"	"48265984"	"del"	"0"	"00085"	"COL1A1_000735"	"g.48265984del"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188623del"	""	"pathogenic"	""
"0000706462"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03704"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706463"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03704"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706464"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03704"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706465"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706466"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706467"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706468"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706469"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Virdi et al., 1994:8125479}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706470"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Namikawa et al., 1995:7789952}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706471"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Zhuang et al., 1996:8829649}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706472"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Lund et al., 1997:9101304}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706473"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Chamberlain et al., 2004:14976317}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706474"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Witecka et al., 2008:18670065}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706475"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03870"	"COL1A1_000186"	"g.48265980C>T"	""	""	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706476"	"0"	"59"	"17"	"48265980"	"48265980"	"subst"	"0"	"01819"	"COL1A1_000186"	"g.48265980C>T"	""	""	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706477"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Sule et al., 2013:23443412}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706478"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03879"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706479"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"03879"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic"	""
"0000706480"	"0"	"95"	"17"	"48265980"	"48265980"	"subst"	"0"	"01819"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"VUS"	""
"0000706481"	"0"	"95"	"17"	"48265980"	"48265980"	"subst"	"0"	"03894"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	""	""	"VUS"	""
"0000706482"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"00085"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	"rs72653178"	"0"	""	""	""	""	"VUS"	""
"0000706483"	"0"	"99"	"17"	"48265980"	"48265980"	"subst"	"0"	"01819"	"COL1A1_000720"	"g.48265980C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188619C>G"	""	"pathogenic"	""
"0000706484"	"0"	"99"	"17"	"48265968"	"48265978"	"del"	"0"	"00085"	"COL1A1_000919"	"g.48265968_48265978del"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188607_50188617del"	""	"pathogenic"	""
"0000706485"	"0"	"99"	"17"	"48265965"	"48265973"	"del"	"0"	"03704"	"COL1A1_000338"	"g.48265965_48265973del"	""	"{PMID:Pace et al., 2001:11668615}"	""	""	""	"Unknown"	""	"rs74315149"	"0"	""	""	"g.50188604_50188612del"	""	"pathogenic"	""
"0000706486"	"0"	"99"	"17"	"48265959"	"48265967"	"del"	"0"	"03704"	"COL1A1_000339"	"g.48265959_48265967del"	""	"{PMID:Pace et al., 2001:11668615}"	""	""	""	"Unknown"	""	"rs74315117"	"0"	""	""	"g.50188598_50188606del"	""	"pathogenic"	""
"0000706487"	"0"	"99"	"17"	"48265959"	"48265967"	"del"	"0"	"00085"	"COL1A1_000339"	"g.48265959_48265967del"	""	"{PMID:Chandler et al., 2018:29595812}"	""	""	""	"Unknown"	""	"rs74315117"	"0"	""	""	"g.50188598_50188606del"	""	"pathogenic"	""
"0000706488"	"0"	"99"	"17"	"48265963"	"48265963"	"del"	"0"	"03885"	"COL1A1_000967"	"g.48265963del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188602del"	""	"pathogenic"	""
"0000706489"	"0"	"99"	"17"	"48265962"	"48265962"	"subst"	"0"	"03704"	"COL1A1_000190"	"g.48265962C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs68181905"	"0"	""	""	"g.50188601C>T"	""	"pathogenic"	""
"0000706490"	"0"	"99"	"17"	"48265962"	"48265962"	"subst"	"0"	"00085"	"COL1A1_000190"	"g.48265962C>T"	""	"{PMID:Wang et al., 2009:19491628}"	""	""	""	"Unknown"	""	"rs68181905"	"0"	""	""	"g.50188601C>T"	""	"pathogenic"	""
"0000706491"	"0"	"99"	"17"	"48265962"	"48265962"	"subst"	"0"	"00475"	"COL1A1_000190"	"g.48265962C>T"	""	""	""	""	""	"Unknown"	""	"rs68181905"	"0"	""	""	"g.50188601C>T"	""	"pathogenic"	""
"0000706492"	"0"	"99"	"17"	"48265962"	"48265962"	"subst"	"0"	"00475"	"COL1A1_000190"	"g.48265962C>T"	""	""	""	""	""	"Unknown"	""	"rs68181905"	"0"	""	""	"g.50188601C>T"	""	"pathogenic"	""
"0000706493"	"0"	"99"	"17"	"48265962"	"48265962"	"subst"	"0"	"03704"	"COL1A1_000191"	"g.48265962C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs68181904"	"0"	""	""	"g.50188601C>A"	""	"pathogenic"	""
"0000706494"	"0"	"99"	"17"	"48265962"	"48265962"	"subst"	"0"	"00085"	"COL1A1_000191"	"g.48265962C>A"	""	"{PMID:Pepin et al., 1997:9203215}"	""	""	""	"Unknown"	""	"rs68181904"	"0"	""	""	"g.50188601C>A"	""	"pathogenic"	""
"0000706495"	"0"	"99"	"17"	"48265962"	"48265962"	"subst"	"0"	"00085"	"COL1A1_000191"	"g.48265962C>A"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	"rs68181904"	"0"	""	""	"g.50188601C>A"	""	"pathogenic"	""
"0000706496"	"0"	"99"	"17"	"48265953"	"48265953"	"subst"	"0"	"00085"	"COL1A1_000246"	"g.48265953C>T"	""	"{PMID:Lund et al., 1997:9101304}"	""	""	""	"Unknown"	""	"rs67641695"	"0"	""	""	"g.50188592C>T"	""	"pathogenic"	""
"0000706497"	"0"	"99"	"17"	"48265957"	"48265965"	"del"	"0"	"00085"	"COL1A1_000340"	"g.48265957_48265965del"	""	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	"Unknown"	""	"rs74315151"	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000706498"	"0"	"99"	"17"	"48265957"	"48265965"	"del"	"0"	"01819"	"COL1A1_000340"	"g.48265957_48265965del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000706499"	"0"	"99"	"17"	"48265957"	"48265965"	"dup"	"0"	"03704"	"COL1A1_000341"	"g.48265957_48265965dup"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188596_50188604dup"	""	"pathogenic"	""
"0000706500"	"0"	"99"	"17"	"48265957"	"48265965"	"del"	"0"	"00085"	"COL1A1_000340"	"g.48265957_48265965del"	""	"{PMID:Hawkins et al., 1991:1939261}"	""	""	""	"Unknown"	""	"rs74315111"	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000706501"	"0"	"99"	"17"	"48265957"	"48265965"	"del"	"0"	"03855"	"COL1A1_000340"	"g.48265957_48265965del"	""	""	""	""	""	"Unknown"	""	"rs74315111"	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000706502"	"21"	"99"	"17"	"48265957"	"48265965"	"del"	"0"	"03704"	"COL1A1_000340"	"g.48265957_48265965del"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	"rs74315111"	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000706503"	"0"	"99"	"17"	"48265957"	"48265965"	"del"	"0"	"00085"	"COL1A1_000340"	"g.48265957_48265965del"	""	"{PMID:Chen et al., 2012:22795119}"	""	""	""	"Unknown"	""	"rs74315111"	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000706504"	"0"	"99"	"17"	"48265957"	"48265965"	"del"	"0"	"00085"	"COL1A1_000340"	"g.48265957_48265965del"	""	"{PMID:Symoens et al., 2017:28261977}"	""	""	""	"Unknown"	""	"rs74315111"	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic"	""
"0000706505"	"0"	"99"	"17"	"48265957"	"48265965"	"dup"	"0"	"03704"	"COL1A1_000341"	"g.48265957_48265965dup"	""	"{PMID:Pace et al., 2001:11668615}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188596_50188604dup"	""	"pathogenic"	""
"0000706506"	"0"	"99"	"17"	"48265957"	"48265965"	"dup"	"0"	"00085"	"COL1A1_000341"	"g.48265957_48265965dup"	""	"{PMID:Cabral et al., 2003:12538651}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188596_50188604dup"	""	"pathogenic"	""
"0000706507"	"0"	"99"	"17"	"48265957"	"48265965"	"dup"	"0"	"03704"	"COL1A1_000341"	"g.48265957_48265965dup"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188596_50188604dup"	""	"pathogenic"	""
"0000706508"	"0"	"99"	"17"	"48265957"	"48265965"	"dup"	"0"	"03888"	"COL1A1_000341"	"g.48265957_48265965dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188596_50188604dup"	""	"pathogenic"	""
"0000706509"	"0"	"99"	"17"	"48265944"	"48265944"	"subst"	"0"	"03704"	"COL1A1_000192"	"g.48265944C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72653179"	"0"	""	""	"g.50188583C>T"	""	"pathogenic"	""
"0000706510"	"0"	"99"	"17"	"48265943"	"48265943"	"subst"	"0"	"03890"	"COL1A1_001064"	"g.48265943C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188582C>T"	""	"pathogenic"	""
"0000706511"	"0"	"99"	"17"	"48265939"	"48265947"	"del"	"0"	"03704"	"COL1A1_000344"	"g.48265939_48265947del"	""	"{PMID:Wallis et al., 1992:1460047}"	""	""	""	"Unknown"	""	"rs74315123"	"0"	""	""	"g.50188578_50188586del"	""	"pathogenic"	""
"0000706512"	"0"	"99"	"17"	"48265939"	"48265947"	"del"	"0"	"03867"	"COL1A1_000344"	"g.48265939_48265947del"	""	""	""	""	""	"Unknown"	""	"rs74315123"	"0"	""	""	"g.50188578_50188586del"	""	"pathogenic"	""
"0000706513"	"0"	"99"	"17"	"48265940"	"48265941"	"ins"	"0"	"00085"	"COL1A1_000343"	"g.48265940_48265941insGACCACCAG"	""	"{PMID:Ward et al., 2001:11317364}"	""	""	""	"Unknown"	""	"rs74315149"	"0"	""	""	"g.50188579_50188580insGACCACCAG"	""	"pathogenic"	""
"0000706514"	"0"	"99"	"17"	"48265936"	"48265936"	"del"	"0"	"00085"	"COL1A1_000345"	"g.48265936del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72654794"	"0"	""	""	"g.50188575del"	"{ClinVar285398}"	"pathogenic"	""
"0000706515"	"0"	"99"	"17"	"48265936"	"48265936"	"del"	"0"	"03870"	"COL1A1_000345"	"g.48265936del"	""	""	""	""	""	"Unknown"	""	"rs72654794"	"0"	""	""	"g.50188575del"	"{ClinVar285398}"	"pathogenic"	""
"0000706516"	"0"	"99"	"17"	"48265936"	"48265936"	"del"	"0"	"03886"	"COL1A1_000345"	"g.48265936del"	""	""	""	""	""	"Unknown"	""	"rs72654794"	"0"	""	""	"g.50188575del"	"{ClinVar285398}"	"pathogenic"	""
"0000706517"	"0"	"99"	"17"	"48265936"	"48265936"	"del"	"0"	"00085"	"COL1A1_000345"	"g.48265936del"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	"rs72654794"	"0"	""	""	"g.50188575del"	""	"pathogenic"	""
"0000706518"	"0"	"99"	"17"	"48265934"	"48265934"	"subst"	"0"	"03704"	"COL1A1_000491"	"g.48265934C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188573C>T"	""	"pathogenic"	""
"0000706519"	"0"	"99"	"17"	"48265933"	"48265933"	"dup"	"0"	"03870"	"COL1A1_000659"	"g.48265933dup"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188572dup"	""	"pathogenic"	""
"0000706520"	"0"	"99"	"17"	"48265926"	"48265926"	"subst"	"0"	"00085"	"COL1A1_000193"	"g.48265926C>T"	""	"{PMID:Marini et al., 2007:17078022} (Trummer, personal communication)"	""	""	""	"Unknown"	""	"rs72654795"	"0"	""	""	"g.50188565C>T"	""	"pathogenic"	""
"0000706521"	"0"	"99"	"17"	"48265926"	"48265926"	"subst"	"0"	"00085"	"COL1A1_000193"	"g.48265926C>T"	""	"{PMID:Lund et al., 1997:9101304}"	""	""	""	"Unknown"	""	"rs72654795"	"0"	""	""	"g.50188565C>T"	""	"pathogenic"	""
"0000706522"	"0"	"99"	"17"	"48265926"	"48265926"	"subst"	"0"	"00085"	"COL1A1_000193"	"g.48265926C>T"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72654795"	"0"	""	""	"g.50188565C>T"	""	"pathogenic"	""
"0000706523"	"0"	"99"	"17"	"48265926"	"48265926"	"subst"	"0"	"00085"	"COL1A1_000193"	"g.48265926C>T"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	"rs72654795"	"0"	""	""	""	""	"VUS"	""
"0000706524"	"11"	"99"	"17"	"48265920"	"48265920"	"del"	"0"	"00085"	"COL1A1_001171"	"g.48265920del"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706525"	"0"	"99"	"17"	"48265917"	"48265917"	"subst"	"0"	"03704"	"COL1A1_000194"	"g.48265917C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72654796"	"0"	""	""	"g.50188556C>T"	""	"pathogenic"	""
"0000706526"	"0"	"99"	"17"	"48265917"	"48265917"	"subst"	"0"	"00085"	"COL1A1_000194"	"g.48265917C>T"	""	"{PMID:Lightfoot et al., 1994:7982948}"	""	""	""	"Unknown"	""	"rs72654796"	"0"	""	""	"g.50188556C>T"	""	"pathogenic"	""
"0000706527"	"11"	"99"	"17"	"48265916"	"48265916"	"subst"	"0"	"03704"	"COL1A1_000247"	"g.48265916C>T"	""	"{PMID:Cohn et al., 1990:2309707}"	""	""	""	"Unknown"	""	"rs72654797"	"0"	""	""	"g.50188555C>T"	""	"pathogenic"	""
"0000706528"	"0"	"99"	"17"	"48265907"	"48265907"	"subst"	"0"	"00085"	"COL1A1_000195"	"g.48265907C>G"	""	"{PMID:Marini et al., 2007:17078022} (Trummer, personal communication)"	""	""	""	"Unknown"	""	"rs72654798"	"0"	""	""	"g.50188546C>G"	""	"pathogenic"	""
"0000706529"	"0"	"97"	"17"	"48265903"	"48265903"	"subst"	"0"	"00085"	"COL1A1_001072"	"g.48265903A>C"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188542A>C"	""	"likely pathogenic"	""
"0000706530"	"0"	"97"	"17"	"48265903"	"48265903"	"subst"	"0"	"00085"	"COL1A1_001072"	"g.48265903A>C"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188542A>C"	""	"likely pathogenic"	""
"0000706531"	"0"	"97"	"17"	"48265903"	"48265903"	"subst"	"0"	"00085"	"COL1A1_001072"	"g.48265903A>C"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188542A>C"	""	"likely pathogenic"	""
"0000706532"	"0"	"99"	"17"	"48265902"	"48265902"	"subst"	"6.53349E-5"	"00085"	"COL1A1_000248"	"g.48265902G>A"	""	"{PMID:Cabral et al., 2007:17206620}"	""	""	""	"Unknown"	""	"rs72654799"	"0"	""	""	"g.50188541G>A"	""	"pathogenic"	""
"0000706533"	"11"	"97"	"17"	"48265902"	"48265902"	"subst"	"6.53349E-5"	"00085"	"COL1A1_000248"	"g.48265902G>A"	""	"{PMID:Ackermann and Levine, 2017:28436160}"	""	""	""	"Unknown"	""	"rs72654799"	"0"	""	""	"g.50188541G>A"	""	"likely pathogenic"	""
"0000706534"	"0"	"99"	"17"	"48265897"	"48265897"	"del"	"0"	"00085"	"COL1A1_000346"	"g.48265897del"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72654800"	"0"	""	""	"g.50188536del"	""	"pathogenic"	""
"0000706535"	"20"	"99"	"17"	"48265890"	"48265890"	"subst"	"0"	"00085"	"COL1A1_000752"	"g.48265890C>T"	""	"{PMID:Peng et al., 2012:22565191}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188529C>T"	""	"pathogenic"	""
"0000706536"	"0"	"99"	"17"	"48265890"	"48265890"	"subst"	"0"	"03870"	"COL1A1_001037"	"g.48265890C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188529C>A"	""	"pathogenic"	""
"0000706537"	"0"	"99"	"17"	"48265890"	"48265891"	"del"	"0"	"03853"	"COL1A1_000471"	"g.48265890_48265891del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188529_50188530del"	""	"pathogenic"	""
"0000706538"	"0"	"99"	"17"	"48265886"	"48265886"	"subst"	"0"	"00085"	"COL1A1_000444"	"g.48265886C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs68014162"	"0"	""	""	"g.50188525C>T"	""	"pathogenic"	""
"0000706539"	"0"	"99"	"17"	"48265886"	"48265886"	"subst"	"0"	"00085"	"COL1A1_000443"	"g.48265886C>A"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs68014163"	"0"	""	""	"g.50188525C>A"	""	"pathogenic"	""
"0000706540"	"0"	"73"	"17"	"48265516"	"48265516"	"subst"	"0"	"03879"	"COL1A1_000857"	"g.48265516G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188155G>A"	""	"VUS"	""
"0000706541"	"0"	"99"	"17"	"48265512"	"48265512"	"subst"	"0"	"00085"	"COL1A1_000445"	"g.48265512T>G"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72654801"	"0"	""	""	"g.50188151T>G"	""	"pathogenic"	""
"0000706542"	"0"	"59"	"17"	"48265505"	"48265512"	"del"	"0"	"03885"	"COL1A1_000968"	"g.48265505_48265512del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188144_50188151del"	""	"pathogenic"	""
"0000706543"	"0"	"99"	"17"	"48265511"	"48265511"	"subst"	"0"	"03897"	"COL1A1_001240"	"g.48265511C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50188150C>T"	""	"pathogenic"	""
"0000706544"	"0"	"99"	"17"	"48265510"	"48265510"	"subst"	"0"	"00085"	"COL1A1_000819"	"g.48265510C>T"	""	"{PMID:Zhao et al., 2014:24711029}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188149C>T"	""	"pathogenic"	""
"0000706545"	"0"	"99"	"17"	"48265510"	"48265510"	"subst"	"0"	"00085"	"COL1A1_000819"	"g.48265510C>T"	""	"{PMID:Song et al., 2014:25119913}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188149C>T"	""	"pathogenic"	""
"0000706546"	"0"	"99"	"17"	"48265501"	"48265501"	"subst"	"0"	"03897"	"COL1A1_001226"	"g.48265501C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188140C>T"	""	"pathogenic"	""
"0000706547"	"0"	"11"	"17"	"48265495"	"48265495"	"subst"	"0"	"00085"	"COL1A1_000505"	"g.48265495T="	""	"{PMID:Sokolov et al., 1991:1870989}, {PMID:Chan et al., 2008:18272325}, {PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs1800215"	"0"	""	""	"g.50188134C>T"	""	"likely benign"	""
"0000706548"	"0"	"93"	"17"	"48265495"	"48265495"	"subst"	"0"	"00085"	"COL1A1_000505"	"g.48265495C>T"	""	"{PMID:Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs1800215"	"0"	""	""	""	""	"VUS"	""
"0000706549"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"03704"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706550"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Nishioka, personal communication)"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706551"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706552"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706553"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Lund et al., 1997:9101304}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706554"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"03853"	"COL1A1_000196"	"g.48265492C>T"	""	""	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706555"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706556"	"0"	"59"	"17"	"48265492"	"48265492"	"subst"	"0"	"03865"	"COL1A1_000196"	"g.48265492C>T"	""	""	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706557"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706558"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Barkova et al., 2014:24863959}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706559"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"03879"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706560"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"01819"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706561"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706562"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"03870"	"COL1A1_000196"	"g.48265492C>T"	""	""	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706563"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706564"	"0"	"95"	"17"	"48265492"	"48265492"	"subst"	"0"	"03894"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	""	""	"VUS"	""
"0000706565"	"0"	"95"	"17"	"48265492"	"48265492"	"subst"	"0"	"03894"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	""	""	"VUS"	""
"0000706566"	"0"	"95"	"17"	"48265492"	"48265492"	"subst"	"0"	"03894"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	""	""	"VUS"	""
"0000706567"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID: Mohd Nawawi et al., 2019:29807018}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706568"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	""	""	"VUS"	""
"0000706569"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"00085"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Mohd Nawawi et al., 2018:29807018}"	""	""	""	"Unknown"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000706570"	"0"	"95"	"17"	"48265492"	"48265492"	"subst"	"0"	"03897"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"VUS"	""
"0000706571"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"03704"	"COL1A1_000203"	"g.48265492C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67394387"	"0"	""	""	"g.50188131C>A"	""	"pathogenic"	""
"0000706572"	"0"	"99"	"17"	"48265492"	"48265492"	"subst"	"0"	"03855"	"COL1A1_000203"	"g.48265492C>A"	""	""	""	""	""	"Unknown"	""	"rs67394387"	"0"	""	""	"g.50188131C>A"	""	"pathogenic"	""
"0000706573"	"10"	"99"	"17"	"48265483"	"48265486"	"del"	"0"	"03879"	"COL1A1_000872"	"g.48265483_48265486del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188122_50188125del"	""	"pathogenic"	""
"0000706574"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03704"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706575"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706576"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Milgrom, personal communication)"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706577"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Mottes et al., 1992:1634225}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706578"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706579"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706580"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03702"	"COL1A1_000204"	"g.48265483C>T"	""	"Lund, personal communication"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706581"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03855"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706582"	"11"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Kanecko et al., 2011:21594610}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706583"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706584"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03865"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706585"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03865"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706586"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03865"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706587"	"21"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"00085"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Moraes et al., 2012:23079818}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706588"	"0"	"59"	"17"	"48265483"	"48265483"	"subst"	"0"	"03865"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706589"	"20"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03879"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706590"	"20"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03879"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706591"	"11"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03872"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Ju et al., 2016:27060301}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706592"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03870"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706593"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03870"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706594"	"0"	"95"	"17"	"48265483"	"48265483"	"subst"	"0"	"03894"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72654802"	"0"	""	""	""	""	"VUS"	""
"0000706595"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03897"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"De novo"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic"	""
"0000706596"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03870"	"COL1A1_000739"	"g.48265483C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188122C>G"	""	"pathogenic"	""
"0000706597"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"03870"	"COL1A1_000739"	"g.48265483C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706598"	"0"	"99"	"17"	"48265481"	"48265481"	"del"	"0"	"00085"	"COL1A1_001297"	"g.48265481del"	""	"{PMID:Trancozo et al., 2019:31429852}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188120del"	""	"pathogenic"	""
"0000706599"	"0"	"99"	"17"	"48265477"	"48265477"	"del"	"0"	"00085"	"COL1A1_000523"	"g.48265477del"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188116del"	""	"pathogenic"	""
"0000706600"	"0"	"11"	"17"	"48265475"	"48265475"	"subst"	"0.00616391"	"00085"	"COL1A1_000509"	"g.48265475A>G"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs1800217"	"0"	""	""	"g.50188114A>G"	""	"likely benign"	""
"0000706601"	"0"	"99"	"17"	"48265474"	"48265474"	"subst"	"0"	"00085"	"COL1A1_000256"	"g.48265474C>A"	""	"{PMID:Constantinou et al., 1989:2913053}"	""	""	""	"Unknown"	""	"rs72656303"	"0"	""	""	"g.50188113C>A"	""	"pathogenic"	""
"0000706602"	"21"	"91"	"17"	"48265471"	"48265471"	"subst"	"2.04819E-5"	"03872"	"COL1A1_000891"	"g.48265471C>T"	""	"{PMID:Ju et al., 2016:27060301}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188110C>T"	""	"VUS"	""
"0000706603"	"21"	"99"	"17"	"48265471"	"48265471"	"subst"	"2.04819E-5"	"00085"	"COL1A1_000891"	"g.48265471C>T"	""	"{PMID:Mauri et al., 2016:27484908}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188110C>T"	""	"pathogenic"	""
"0000706604"	"0"	"99"	"17"	"48265465"	"48265465"	"subst"	"0"	"00085"	"COL1A1_000207"	"g.48265465C>T"	""	"{PMID:Marini et al., 2007:17078022} (Nuytinck and De Paepe, personal communication)"	""	""	""	"Unknown"	""	"rs72656304"	"0"	""	""	"g.50188104C>T"	""	"pathogenic"	""
"0000706605"	"0"	"95"	"17"	"48265459"	"48265462"	"delins"	"0"	"03894"	"COL1A1_001152"	"g.48265459_48265462delinsGC"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706606"	"0"	"99"	"17"	"48265456"	"48265456"	"subst"	"0"	"03704"	"COL1A1_000496"	"g.48265456C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50188095C>T"	""	"pathogenic"	""
"0000706607"	"0"	"79"	"17"	"48265232"	"48265232"	"subst"	"0"	"03885"	"COL1A1_000971"	"g.48265232C>G"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187871C>G"	""	"pathogenic"	""
"0000706608"	"0"	"99"	"17"	"48265344"	"48265344"	"subst"	"0"	"03897"	"COL1A1_001236"	"g.48265344C>A"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187983C>A"	""	"pathogenic"	""
"0000706609"	"0"	"99"	"17"	"48265344"	"48265344"	"subst"	"0"	"03897"	"COL1A1_001236"	"g.48265344C>A"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187983C>A"	""	"pathogenic"	""
"0000706610"	"0"	"99"	"17"	"48265343"	"48265343"	"subst"	"0"	"00085"	"COL1A1_000813"	"g.48265343C>T"	""	"{PMID:Xia et al., 2014:24682174}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187982C>T"	""	"pathogenic"	""
"0000706611"	"0"	"99"	"17"	"48265343"	"48265343"	"subst"	"0"	"00085"	"COL1A1_000249"	"g.48265343C>G"	""	"{PMID:Valli et al., 1993:7679635}"	""	""	""	"Unknown"	""	"rs72656305"	"0"	""	""	"g.50187982C>G"	""	"pathogenic"	""
"0000706612"	"0"	"99"	"17"	"48265343"	"48265343"	"subst"	"0"	"03870"	"COL1A1_000249"	"g.48265343C>G"	""	""	""	""	""	"Unknown"	""	"rs72656305"	"0"	""	""	"g.50187982C>G"	""	"pathogenic"	""
"0000706613"	"0"	"95"	"17"	"48265338"	"48265338"	"del"	"0"	"03894"	"COL1A1_001138"	"g.48265338del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706614"	"0"	"99"	"17"	"48265335"	"48265335"	"subst"	"0"	"03704"	"COL1A1_000208"	"g.48265335C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656306"	"0"	""	""	"g.50187974C>T"	""	"pathogenic"	""
"0000706615"	"0"	"99"	"17"	"48265335"	"48265335"	"subst"	"0"	"03704"	"COL1A1_000208"	"g.48265335C>T"	""	"{Localcohn_et_al_1990b.pdf:Cohn et al., 1990}"	""	""	""	"Unknown"	""	"rs72656306"	"0"	""	""	"g.50187974C>T"	""	"pathogenic"	""
"0000706616"	"0"	"99"	"17"	"48265329"	"48265329"	"subst"	"2.86114E-5"	"00085"	"COL1A1_000250"	"g.48265329G>A"	""	"{PMID:Malfait et al., 2007:17211858}"	""	""	""	"Unknown"	""	"rs72656307"	"0"	""	""	"g.50187968G>A"	""	"pathogenic"	""
"0000706617"	"0"	"99"	"17"	"48265333"	"48265333"	"del"	"0"	"03870"	"COL1A1_000747"	"g.48265333del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187972del"	""	"pathogenic"	""
"0000706618"	"0"	"95"	"17"	"48265329"	"48265329"	"dup"	"0"	"03894"	"COL1A1_001147"	"g.48265329dup"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706619"	"21"	"11"	"17"	"48265328"	"48265328"	"subst"	"5.72078E-5"	"00085"	"COL1A1_000942"	"g.48265328C>T"	""	"{PMID:Marshall et al., 2016:27549894}"	""	""	""	"Unknown"	""	"rs781491172"	"0"	""	""	"g.50187967C>T"	""	"likely benign"	""
"0000706620"	"0"	"99"	"17"	"48265326"	"48265326"	"subst"	"0"	"03704"	"COL1A1_000492"	"g.48265326C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187965C>T"	""	"pathogenic"	""
"0000706621"	"0"	"99"	"17"	"48265321"	"48265322"	"dup"	"0"	"03704"	"COL1A1_000347"	"g.48265321_48265322dup"	""	"{PMID:Willing et al., 1994:7942841}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187960_50187961dup"	""	"pathogenic"	""
"0000706622"	"0"	"99"	"17"	"48265316"	"48265316"	"subst"	"0"	"00085"	"COL1A1_001156"	"g.48265316C>A"	""	"{PMID:Tanner et al., 2017:28812463}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187955C>A"	""	"pathogenic"	""
"0000706623"	"0"	"99"	"17"	"48265307"	"48265307"	"subst"	"0"	"00085"	"COL1A1_000209"	"g.48265307C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72656308"	"0"	""	""	"g.50187946C>T"	""	"pathogenic"	""
"0000706624"	"0"	"99"	"17"	"48265307"	"48265307"	"subst"	"0"	"03704"	"COL1A1_000209"	"g.48265307C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72656308"	"0"	""	""	"g.50187946C>T"	""	"pathogenic"	""
"0000706625"	"0"	"79"	"17"	"48265302"	"48265302"	"subst"	"0"	"03881"	"COL1A1_000896"	"g.48265302G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187941G>A"	""	"pathogenic"	""
"0000706626"	"0"	"99"	"17"	"48265302"	"48265302"	"subst"	"0"	"03894"	"COL1A1_000896"	"g.48265302G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187941G>A"	""	"pathogenic"	""
"0000706627"	"0"	"99"	"17"	"48265296"	"48265303"	"del"	"0"	"00085"	"COL1A1_000348"	"g.48265296_48265303del"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72656309"	"0"	""	""	"g.50187935_50187942del"	""	"pathogenic"	""
"0000706628"	"0"	"99"	"17"	"48265297"	"48265297"	"del"	"0"	"03885"	"COL1A1_000969"	"g.48265297del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187936del"	""	"pathogenic"	""
"0000706629"	"0"	"99"	"17"	"48265293"	"48265293"	"del"	"0"	"00085"	"COL1A1_000349"	"g.48265293del"	""	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	"Unknown"	""	"rs72656310"	"0"	""	""	"g.50187932del"	""	"pathogenic"	""
"0000706630"	"0"	"99"	"17"	"48265293"	"48265293"	"del"	"0"	"00085"	"COL1A1_000349"	"g.48265293del"	""	"{PMID:Nwosu et al., 2005:16272059}"	""	""	""	"Unknown"	""	"rs72656310"	"0"	""	""	"g.50187932del"	""	"pathogenic"	""
"0000706631"	"0"	"99"	"17"	"48265289"	"48265289"	"subst"	"0"	"00085"	"COL1A1_000251"	"g.48265289C>G"	""	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	"Unknown"	""	"rs72656311"	"0"	""	""	"g.50187928C>G"	""	"pathogenic"	""
"0000706632"	"0"	"73"	"17"	"48265287"	"48265287"	"subst"	"0"	"03871"	"COL1A1_000786"	"g.48265287T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187926T>A"	""	"VUS"	""
"0000706633"	"0"	"99"	"17"	"48265281"	"48265281"	"subst"	"0"	"03704"	"COL1A1_000679"	"g.48265281C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187920C>T"	""	"pathogenic"	""
"0000706634"	"0"	"99"	"17"	"48265278"	"48265278"	"del"	"0"	"00085"	"COL1A1_001280"	"g.48265278del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706635"	"0"	"99"	"17"	"48265257"	"48265257"	"subst"	"0"	"00085"	"COL1A1_000699"	"g.48265257G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187896G>A"	""	"pathogenic"	""
"0000706636"	"0"	"99"	"17"	"48265247"	"48265252"	"del"	"0"	"03885"	"COL1A1_000970"	"g.48265247_48265252del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187886_50187891del"	""	"pathogenic"	""
"0000706637"	"0"	"99"	"17"	"48265223"	"48265247"	"del"	"0"	"03870"	"COL1A1_001038"	"g.48265223_48265247del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187862_50187886del"	""	"pathogenic"	""
"0000706638"	"0"	"99"	"17"	"48265246"	"48265246"	"del"	"0"	"03865"	"COL1A1_000765"	"g.48265246del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187885del"	""	"pathogenic"	""
"0000706639"	"0"	"99"	"17"	"48265236"	"48265236"	"subst"	"0"	"03870"	"COL1A1_000527"	"g.48265236C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187875C>T"	""	"pathogenic"	""
"0000706640"	"0"	"99"	"17"	"48265236"	"48265236"	"subst"	"0"	"00085"	"COL1A1_001061"	"g.48265236C>G"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187875C>G"	""	"pathogenic"	""
"0000706641"	"0"	"99"	"17"	"48264898"	"48264898"	"subst"	"0"	"00085"	"COL1A1_000252"	"g.48264898C>A"	""	"{PMID:Kurosaka et al., 1994:7961597}"	""	""	""	"Unknown"	""	"rs72656312"	"0"	""	""	"g.50187537C>A"	""	"pathogenic"	""
"0000706642"	"0"	"99"	"17"	"48264888"	"48264888"	"subst"	"0"	"00085"	"COL1A1_001082"	"g.48264888C>T"	""	"{PMID:Lee et al., 2017:28668235}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187527C>T"	""	"pathogenic"	""
"0000706643"	"0"	"99"	"17"	"48264883"	"48264883"	"subst"	"0"	"03853"	"COL1A1_000462"	"g.48264883G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187522G>A"	""	"pathogenic"	""
"0000706644"	"0"	"99"	"17"	"48264870"	"48264870"	"subst"	"0"	"03853"	"COL1A1_000543"	"g.48264870C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187509C>G"	""	"pathogenic"	""
"0000706645"	"0"	"99"	"17"	"48264870"	"48264870"	"subst"	"0"	"00475"	"COL1A1_000543"	"g.48264870C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187509C>G"	""	"pathogenic"	""
"0000706646"	"0"	"99"	"17"	"48264869"	"48264870"	"del"	"0"	"03855"	"COL1A1_000627"	"g.48264869_48264870del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187508_50187509del"	""	"pathogenic"	""
"0000706647"	"0"	"99"	"17"	"48264867"	"48264867"	"del"	"0"	"03704"	"COL1A1_000350"	"g.48264867del"	""	"{PMID:Willing et al., 1994:7942841}"	""	""	""	"Unknown"	""	"rs72656313"	"0"	""	""	"g.50187506del"	""	"pathogenic"	""
"0000706648"	"0"	"99"	"17"	"48264867"	"48264867"	"del"	"0"	"00475"	"COL1A1_000350"	"g.48264867del"	""	""	""	""	""	"Unknown"	""	"rs72656313"	"0"	""	""	"g.50187506del"	""	"pathogenic"	""
"0000706649"	"0"	"95"	"17"	"48264865"	"48264865"	"subst"	"0"	"03894"	"COL1A1_001094"	"g.48264865A>C"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706650"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"03704"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Willing et al., 1994:7942841}"	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706651"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"00085"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706652"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"00085"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Körkkö et al., 1997:9067755}"	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706653"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"00085"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706654"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"00085"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Venturi et al., 2006:16879195}"	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706655"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"00085"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706656"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"03855"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Balasubramanian et al., 2015:25436829}"	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706657"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"03870"	"COL1A1_000253"	"g.48264847G>A"	""	""	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706658"	"0"	"99"	"17"	"48264847"	"48264847"	"subst"	"0"	"03870"	"COL1A1_000253"	"g.48264847G>A"	""	""	""	""	""	"Unknown"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic"	""
"0000706659"	"0"	"11"	"17"	"48264846"	"48264846"	"subst"	"1.21961E-5"	"00085"	"COL1A1_000510"	"g.48264846C>T"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41316713"	"0"	""	""	"g.50187485C>T"	""	"likely benign"	""
"0000706660"	"0"	"99"	"17"	"48264844"	"48264844"	"subst"	"0"	"03704"	"COL1A1_000446"	"g.48264844C>T"	""	"{Localwallis_et_al_1990a.pdf:Wallis et al., 1990}"	""	""	""	"Unknown"	""	"rs72656315"	"0"	""	""	"g.50187483C>T"	""	"pathogenic"	""
"0000706661"	"0"	"99"	"17"	"48264843"	"48264843"	"subst"	"0"	"03704"	"COL1A1_000497"	"g.48264843A>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187482A>T"	""	"pathogenic"	""
"0000706662"	"0"	"59"	"17"	"48264840"	"48264840"	"subst"	"0"	"03855"	"COL1A1_000610"	"g.48264840C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187479C>T"	""	"pathogenic"	""
"0000706663"	"0"	"99"	"17"	"48264489"	"48264489"	"subst"	"0"	"03879"	"COL1A1_000875"	"g.48264489G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187128G>C"	""	"pathogenic"	""
"0000706664"	"11"	"99"	"17"	"48264489"	"48264489"	"subst"	"0"	"03879"	"COL1A1_000875"	"g.48264489G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187128G>C"	""	"pathogenic"	""
"0000706665"	"0"	"99"	"17"	"48264486"	"48264486"	"subst"	"0"	"03704"	"COL1A1_000447"	"g.48264486G>C"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656316"	"0"	""	""	"g.50187125G>C"	""	"pathogenic"	""
"0000706666"	"0"	"79"	"17"	"48264484"	"48264484"	"subst"	"0"	"03855"	"COL1A1_000611"	"g.48264484C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187123C>T"	""	"pathogenic"	""
"0000706667"	"0"	"99"	"17"	"48264484"	"48264484"	"subst"	"0"	"03704"	"COL1A1_000498"	"g.48264484C>G"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187123C>G"	""	"pathogenic"	""
"0000706668"	"21"	"99"	"17"	"48264457"	"48264457"	"dup"	"0"	"00085"	"COL1A1_001173"	"g.48264457dup"	""	"{PMID29499418 : Mrosk et al., 2018}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706669"	"0"	"99"	"17"	"48264375"	"48264375"	"subst"	"0"	"03885"	"COL1A1_000972"	"g.48264375C>G"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187014C>G"	""	"pathogenic"	""
"0000706670"	"0"	"99"	"17"	"48264483"	"48264483"	"subst"	"0"	"03704"	"COL1A1_000210"	"g.48264483C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656317"	"0"	""	""	"g.50187122C>T"	""	"pathogenic"	""
"0000706671"	"0"	"99"	"17"	"48264483"	"48264483"	"subst"	"0"	"03704"	"COL1A1_000210"	"g.48264483C>T"	""	"{Localwallis_et_al_1989.pdf:Wallis et al., 1989}"	""	""	""	"Unknown"	""	"rs72656317"	"0"	""	""	"g.50187122C>T"	""	"pathogenic"	""
"0000706672"	"0"	"97"	"17"	"48264474"	"48264474"	"subst"	"0"	"03865"	"COL1A1_000766"	"g.48264474C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187113C>T"	""	"likely pathogenic"	""
"0000706673"	"0"	"99"	"17"	"48264474"	"48264474"	"subst"	"0"	"00085"	"COL1A1_000211"	"g.48264474C>A"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Barnes, personal communication)"	""	""	""	"Unknown"	""	"rs72656318"	"0"	""	""	"g.50187113C>A"	""	"pathogenic"	""
"0000706674"	"0"	"99"	"17"	"48264474"	"48264474"	"subst"	"0"	"00085"	"COL1A1_000211"	"g.48264474C>A"	""	"{PMID:Wang et al., 2015:25742658} {PMID:Wang et al., 2015:25933069}"	""	""	""	"Unknown"	""	"rs72656318"	"0"	""	""	"g.50187113C>A"	""	"pathogenic"	""
"0000706675"	"0"	"99"	"17"	"48264473"	"48264473"	"subst"	"0"	"00085"	"COL1A1_000212"	"g.48264473C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72656319"	"0"	""	""	"g.50187112C>T"	""	"pathogenic"	""
"0000706676"	"0"	"99"	"17"	"48264456"	"48264456"	"subst"	"0"	"00085"	"COL1A1_000257"	"g.48264456C>T"	""	"{Localgomez-lira_et_al_1993.pdf:Gomez-Lira et al., 1993}"	""	""	""	"Unknown"	""	"rs72656320"	"0"	""	""	"g.50187095C>T"	""	"pathogenic"	""
"0000706677"	"0"	"99"	"17"	"48264456"	"48264456"	"subst"	"0"	"00085"	"COL1A1_000257"	"g.48264456C>T"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	"rs72656320"	"0"	""	""	"g.50187095C>T"	""	"pathogenic"	""
"0000706678"	"0"	"99"	"17"	"48264456"	"48264456"	"subst"	"0"	"00085"	"COL1A1_000257"	"g.48264456C>T"	""	"{PMID:Rauch et al., 2014:25086671}"	""	""	""	"Unknown"	""	"rs72656320"	"0"	""	""	"g.50187095C>T"	""	"pathogenic"	""
"0000706679"	"0"	"99"	"17"	"48264455"	"48264455"	"subst"	"0"	"00085"	"COL1A1_000258"	"g.48264455C>A"	""	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	"Unknown"	""	"rs72656321"	"0"	""	""	"g.50187094C>A"	""	"pathogenic"	""
"0000706680"	"0"	"11"	"17"	"48264448"	"48264448"	"subst"	"0.0130571"	"00085"	"COL1A1_000506"	"g.48264448A>G"	""	"{PMID:Zhuang et al., 1996:8829649} {PMID:Chan et al., 2008:18272325} {PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs1800218"	"0"	""	""	"g.50187087A>G"	""	"likely benign"	""
"0000706681"	"0"	"99"	"17"	"48264447"	"48264447"	"subst"	"0"	"00085"	"COL1A1_000259"	"g.48264447C>T"	""	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	"Unknown"	""	"rs72656322"	"0"	""	""	"g.50187086C>T"	""	"pathogenic"	""
"0000706682"	"0"	"99"	"17"	"48264437"	"48264437"	"subst"	"0"	"00085"	"COL1A1_000260"	"g.48264437C>T"	""	"{PMID:Wang et al., 2006:16638323}"	""	""	""	"Unknown"	""	"rs72656323"	"0"	""	""	"g.50187076C>T"	""	"pathogenic"	""
"0000706683"	"0"	"95"	"17"	"48264437"	"48264437"	"subst"	"0"	"03894"	"COL1A1_000260"	"g.48264437C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72656323"	"0"	""	""	""	""	"VUS"	""
"0000706684"	"0"	"99"	"17"	"48264430"	"48264430"	"del"	"0"	"00085"	"COL1A1_000522"	"g.48264430del"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187069del"	""	"pathogenic"	""
"0000706685"	"0"	"99"	"17"	"48264416"	"48264433"	"del"	"0"	"00085"	"COL1A1_000351"	"g.48264416_48264433del"	""	"{PMID:Kataoka et al., 2007:17875077}"	""	""	""	"Unknown"	""	"rs74315108"	"0"	""	""	"g.50187055_50187072del"	""	"pathogenic"	""
"0000706686"	"0"	"99"	"17"	"48264420"	"48264420"	"del"	"0"	"03897"	"COL1A1_001303"	"g.48264420del"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50187059del"	""	"pathogenic"	""
"0000706687"	"0"	"99"	"17"	"48264417"	"48264417"	"del"	"0"	"03855"	"COL1A1_000612"	"g.48264417del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187056del"	""	"pathogenic"	""
"0000706688"	"0"	"99"	"17"	"48264412"	"48264412"	"del"	"0"	"00085"	"COL1A1_000534"	"g.48264412del"	""	"{PMID:Wang et al., 2009:19491628}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187051del"	""	"pathogenic"	""
"0000706689"	"0"	"99"	"17"	"48264411"	"48264411"	"subst"	"0"	"03704"	"COL1A1_000213"	"g.48264411C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656324"	"0"	""	""	"g.50187050C>A"	""	"pathogenic"	""
"0000706690"	"0"	"99"	"17"	"48264411"	"48264411"	"subst"	"0"	"03704"	"COL1A1_000213"	"g.48264411C>A"	""	"{PMID:Cohn et al., 1986:3016737}"	""	""	""	"Unknown"	""	"rs72656324"	"0"	""	""	"g.50187050C>A"	""	"pathogenic"	""
"0000706691"	"0"	"99"	"17"	"48264411"	"48264411"	"subst"	"0"	"01819"	"COL1A1_000213"	"g.48264411C>A"	""	""	""	""	""	"Unknown"	""	"rs72656324"	"0"	""	""	"g.50187050C>A"	""	"pathogenic"	""
"0000706692"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03704"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706693"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03704"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706694"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03704"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706695"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03704"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706696"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"00085"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Marini et al., 2007:17078022} (Körkkö and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706697"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"00085"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Marini et al., 2007:17078022} (Roughley and Glorieux, personal communication)"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706698"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03853"	"COL1A1_000214"	"g.48264402C>T"	""	""	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706699"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03853"	"COL1A1_000214"	"g.48264402C>T"	""	""	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706700"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03870"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706701"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"00085"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Sule et al., 2013:23443412}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706702"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03873"	"COL1A1_000214"	"g.48264402C>T"	""	""	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706703"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03879"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706704"	"21"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03879"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706705"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03879"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706706"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"00085"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706707"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"00085"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Caparros-Martin et al., 2016:28116328}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706708"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03870"	"COL1A1_000214"	"g.48264402C>T"	""	""	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706709"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03894"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic"	""
"0000706710"	"0"	"95"	"17"	"48264402"	"48264402"	"subst"	"0"	"03894"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	""	""	"VUS"	""
"0000706711"	"0"	"95"	"17"	"48264402"	"48264402"	"subst"	"0"	"03894"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	""	""	"VUS"	""
"0000706712"	"0"	"95"	"17"	"48264402"	"48264402"	"subst"	"0"	"03894"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	""	""	"VUS"	""
"0000706713"	"0"	"95"	"17"	"48264402"	"48264402"	"subst"	"0"	"03894"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs67815020"	"0"	""	""	""	""	"VUS"	""
"0000706714"	"0"	"99"	"17"	"48264402"	"48264402"	"subst"	"0"	"03704"	"COL1A1_000217"	"g.48264402C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67815019"	"0"	""	""	"g.50187041C>A"	""	"pathogenic"	""
"0000706715"	"0"	"99"	"17"	"48264393"	"48264393"	"subst"	"0"	"01819"	"COL1A1_000721"	"g.48264393C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187032C>G"	""	"pathogenic"	""
"0000706716"	"0"	"99"	"17"	"48264392"	"48264392"	"subst"	"0"	"00085"	"COL1A1_000261"	"g.48264392C>T"	""	"{PMID:Mottes et al., 1998:10627137}"	""	""	""	"Unknown"	""	"rs72656325"	"0"	""	""	"g.50187031C>T"	""	"pathogenic"	""
"0000706717"	"0"	"97"	"17"	"48264386"	"48264386"	"subst"	"0"	"00085"	"COL1A1_000700"	"g.48264386G>A"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187025G>A"	""	"likely pathogenic"	""
"0000706718"	"0"	"97"	"17"	"48264386"	"48264386"	"subst"	"0"	"00085"	"COL1A1_000700"	"g.48264386G>A"	""	"{PMID:Shi et al., 2015:25674388}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187025G>A"	""	"likely pathogenic"	""
"0000706719"	"0"	"95"	"17"	"48264386"	"48264386"	"subst"	"0"	"03894"	"COL1A1_000700"	"g.48264386G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706720"	"0"	"95"	"17"	"48264386"	"48264386"	"subst"	"0"	"03894"	"COL1A1_000700"	"g.48264386G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706721"	"0"	"99"	"17"	"48264384"	"48264384"	"subst"	"0"	"00085"	"COL1A1_000219"	"g.48264384C>T"	""	"{PMID:Marini et al., 2007:17078022} (Marini and Cabral, personal communication)"	""	""	""	"Unknown"	""	"rs67762345"	"0"	""	""	"g.50187023C>T"	""	"pathogenic"	""
"0000706722"	"0"	"99"	"17"	"48264384"	"48264384"	"subst"	"0"	"03704"	"COL1A1_000218"	"g.48264384C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs67762346"	"0"	""	""	"g.50187023C>A"	""	"pathogenic"	""
"0000706723"	"0"	"59"	"17"	"48264384"	"48264384"	"subst"	"0"	"03870"	"COL1A1_000218"	"g.48264384C>A"	""	""	""	""	""	"Unknown"	""	"rs67762346"	"0"	""	""	"g.50187023C>A"	""	"pathogenic"	""
"0000706724"	"0"	"99"	"17"	"48264384"	"48264384"	"del"	"0"	"00085"	"COL1A1_000924"	"g.48264384del"	""	"Pavón de Paz et al., 2016, Rev Osteoporos Metab Miner, 8, 36-39."	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187023del"	""	"pathogenic"	""
"0000706725"	"0"	"99"	"17"	"48264383"	"48264383"	"subst"	"0"	"03870"	"COL1A1_001039"	"g.48264383C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187022C>G"	""	"pathogenic"	""
"0000706726"	"0"	"11"	"17"	"48264378"	"48264378"	"subst"	"0"	"00085"	"COL1A1_000511"	"g.48264378C>T"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41316719"	"0"	""	""	"g.50187017C>T"	""	"likely benign"	""
"0000706727"	"0"	"99"	"17"	"48264375"	"48264375"	"subst"	"0"	"01819"	"COL1A1_000449"	"g.48264375C>T"	""	""	""	""	""	"Unknown"	""	"rs72656326"	"0"	""	""	"g.50187014C>T"	""	"pathogenic"	""
"0000706728"	"0"	"95"	"17"	"48264375"	"48264375"	"subst"	"0"	"01819"	"COL1A1_000987"	"g.48264375C>A"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187014C>A"	""	"VUS"	""
"0000706729"	"0"	"99"	"17"	"48264375"	"48264375"	"subst"	"0"	"03894"	"COL1A1_000987"	"g.48264375C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50187014C>A"	""	"pathogenic"	""
"0000706730"	"0"	"95"	"17"	"48264374"	"48264374"	"subst"	"0"	"03894"	"COL1A1_001145"	"g.48264374A>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706731"	"0"	"99"	"17"	"48264371"	"48264371"	"subst"	"0"	"00085"	"COL1A1_000448"	"g.48264371C>T"	""	"{PMID:Marini et al., 2007:17078022} (Hyland and Prockop, personal communication)"	""	""	""	"Unknown"	""	"rs72656327"	"0"	""	""	"g.50187010C>T"	""	"pathogenic"	""
"0000706732"	"0"	"99"	"17"	"48264371"	"48264371"	"subst"	"0"	"03870"	"COL1A1_000448"	"g.48264371C>T"	""	""	""	""	""	"Unknown"	""	"rs72656327"	"0"	""	""	"g.50187010C>T"	""	"pathogenic"	""
"0000706733"	"0"	"95"	"17"	"48264371"	"48264371"	"subst"	"0"	"03894"	"COL1A1_000448"	"g.48264371C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	"rs72656327"	"0"	""	""	""	""	"VUS"	""
"0000706734"	"0"	"99"	"17"	"48264285"	"48264287"	"del"	"0"	"00085"	"COL1A1_000450"	"g.48264285_48264287del"	""	"{PMID:Lee et al., 2006:16705691}"	""	""	""	"Unknown"	""	"rs72656328"	"0"	""	""	"g.50186924_50186926del"	""	"pathogenic"	""
"0000706735"	"0"	"99"	"17"	"48264285"	"48264285"	"subst"	"0"	"03853"	"COL1A1_000654"	"g.48264285T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186924T>C"	""	"pathogenic"	""
"0000706736"	"0"	"99"	"17"	"48264285"	"48264285"	"subst"	"0"	"00085"	"COL1A1_000654"	"g.48264285T>C"	""	"{PMID:Kaliaperumal et al., 2011:22674700}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186924T>C"	""	"pathogenic"	""
"0000706737"	"0"	"99"	"17"	"48264285"	"48264285"	"subst"	"0"	"00085"	"COL1A1_000654"	"g.48264285T>C"	""	"{PMID:Donkervoort et al., 2013:24070816}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186924T>C"	""	"pathogenic"	""
"0000706738"	"0"	"99"	"17"	"48264097"	"48264097"	"subst"	"0"	"03885"	"COL1A1_000973"	"g.48264097G>A"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186736G>A"	""	"pathogenic"	""
"0000706739"	"0"	"99"	"17"	"48264283"	"48264283"	"subst"	"0"	"00085"	"COL1A1_000807"	"g.48264283C>T"	""	"{PMID:Matouk et al., 2011:22005702}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186922C>T"	""	"pathogenic"	""
"0000706740"	"0"	"99"	"17"	"48264284"	"48264284"	"del"	"0"	"00085"	"COL1A1_001076"	"g.48264284del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186923del"	""	"pathogenic"	""
"0000706741"	"0"	"99"	"17"	"48264282"	"48264282"	"subst"	"0"	"03704"	"COL1A1_000220"	"g.48264282C>A"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656329"	"0"	""	""	"g.50186921C>A"	""	"pathogenic"	""
"0000706742"	"0"	"95"	"17"	"48264273"	"48264282"	"del"	"0"	"03894"	"COL1A1_001146"	"g.48264273_48264282del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706743"	"0"	"99"	"17"	"48264280"	"48264280"	"dup"	"0"	"03862"	"COL1A1_000745"	"g.48264280dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186919dup"	""	"pathogenic"	""
"0000706744"	"0"	"99"	"17"	"48264274"	"48264274"	"subst"	"0"	"03704"	"COL1A1_000221"	"g.48264274C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656330"	"0"	""	""	"g.50186913C>T"	""	"pathogenic"	""
"0000706745"	"0"	"99"	"17"	"48264274"	"48264274"	"subst"	"0"	"03704"	"COL1A1_000221"	"g.48264274C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656330"	"0"	""	""	"g.50186913C>T"	""	"pathogenic"	""
"0000706746"	"0"	"99"	"17"	"48264274"	"48264274"	"subst"	"0"	"03704"	"COL1A1_000221"	"g.48264274C>T"	""	"{PMID:Pruchno et al., 1991:2037280}"	""	""	""	"Unknown"	""	"rs72656330"	"0"	""	""	"g.50186913C>T"	""	"pathogenic"	""
"0000706747"	"0"	"99"	"17"	"48264274"	"48264274"	"subst"	"0"	"03704"	"COL1A1_000221"	"g.48264274C>T"	""	"{PMID:Pruchno et al., 1991:2037280}"	""	""	""	"Unknown"	""	"rs72656330"	"0"	""	""	"g.50186913C>T"	""	"pathogenic"	""
"0000706748"	"0"	"99"	"17"	"48264274"	"48264274"	"subst"	"0"	"03855"	"COL1A1_000221"	"g.48264274C>T"	""	""	""	""	""	"Unknown"	""	"rs72656330"	"0"	""	""	"g.50186913C>T"	""	"pathogenic"	""
"0000706749"	"0"	"35"	"17"	"48264267"	"48264267"	"subst"	"0"	"03855"	"COL1A1_000614"	"g.48264267G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186906G>A"	""	"VUS"	""
"0000706750"	"0"	"99"	"17"	"48264264"	"48264264"	"subst"	"0"	"00085"	"COL1A1_000262"	"g.48264264C>A"	""	"{PMID:Lamande et al., 1989:2777764}"	""	""	""	"Unknown"	""	"rs72656331"	"0"	""	""	"g.50186903C>A"	""	"pathogenic"	""
"0000706751"	"0"	"95"	"17"	"48264259"	"48264259"	"subst"	"1.62824E-5"	"00085"	"COL1A1_000933"	"g.48264259G>C"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186898G>C"	""	"VUS"	""
"0000706752"	"0"	"99"	"17"	"48264256"	"48264256"	"subst"	"0"	"03704"	"COL1A1_000222"	"g.48264256C>T"	""	"{PMID:Marini et al., 2007:17078022} (Byers, personal communication)"	""	""	""	"Unknown"	""	"rs72656332"	"0"	""	""	"g.50186895C>T"	""	"pathogenic"	""
"0000706753"	"0"	"99"	"17"	"48264256"	"48264256"	"subst"	"0"	"00085"	"COL1A1_000222"	"g.48264256C>T"	""	"Cohen et al., 1996 {Localcohen_et_al_1996b.pdf:View abstract}"	""	""	""	"Unknown"	""	"rs72656332"	"0"	""	""	"g.50186895C>T"	""	"pathogenic"	""
"0000706754"	"0"	"99"	"17"	"48264256"	"48264256"	"subst"	"0"	"00085"	"COL1A1_000834"	"g.48264256C>G"	""	"{PMID:Wu et al., 2014:25289482}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186895C>G"	""	"pathogenic"	""
"0000706755"	"0"	"95"	"17"	"48264256"	"48264256"	"subst"	"0"	"03894"	"COL1A1_001125"	"g.48264256C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706756"	"0"	"95"	"17"	"48264256"	"48264256"	"subst"	"0"	"03894"	"COL1A1_001125"	"g.48264256C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706757"	"0"	"99"	"17"	"48264256"	"48264256"	"subst"	"0"	"00085"	"COL1A1_001125"	"g.48264256C>A"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706758"	"0"	"99"	"17"	"48264251"	"48264259"	"dup"	"0"	"03704"	"COL1A1_000352"	"g.48264251_48264259dup"	""	"{PMID:Pace et al., 2001:11668615}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186890_50186898dup"	""	"pathogenic"	""
"0000706759"	"0"	"99"	"17"	"48264256"	"48264256"	"del"	"0"	"00085"	"COL1A1_000353"	"g.48264256del"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs66948145"	"0"	""	""	"g.50186895del"	""	"pathogenic"	""
"0000706760"	"0"	"99"	"17"	"48264255"	"48264255"	"subst"	"0"	"03704"	"COL1A1_000263"	"g.48264255C>A"	""	"{Localcohn_et_al_1990b.pdf:Cohn et al., 1990}"	""	""	""	"Unknown"	""	"rs66948146"	"0"	""	""	"g.50186894C>A"	""	"pathogenic"	""
"0000706761"	"0"	"99"	"17"	"48264253"	"48264253"	"del"	"0"	"03855"	"COL1A1_000613"	"g.48264253del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186892del"	""	"pathogenic"	""
"0000706762"	"0"	"95"	"17"	"48264248"	"48264248"	"del"	"0"	"01819"	"COL1A1_000788"	"g.48264248del"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186887del"	""	"VUS"	""
"0000706763"	"0"	"95"	"17"	"48264248"	"48264248"	"del"	"0"	"01819"	"COL1A1_000788"	"g.48264248del"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186887del"	""	"VUS"	""
"0000706764"	"0"	"99"	"17"	"48264248"	"48264248"	"del"	"0"	"00085"	"COL1A1_000788"	"g.48264248del"	""	"{PMID:Vandersteen et al., 2013:24311407}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186887del"	""	"pathogenic"	""
"0000706765"	"0"	"99"	"17"	"48264248"	"48264248"	"del"	"0"	"03879"	"COL1A1_000788"	"g.48264248del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186887del"	""	"pathogenic"	""
"0000706766"	"11"	"99"	"17"	"48264248"	"48264248"	"del"	"0"	"03879"	"COL1A1_000788"	"g.48264248del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186887del"	""	"pathogenic"	""
"0000706767"	"0"	"95"	"17"	"48264248"	"48264248"	"del"	"0"	"03894"	"COL1A1_000788"	"g.48264248del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706768"	"0"	"99"	"17"	"48264246"	"48264246"	"subst"	"0"	"03870"	"COL1A1_000531"	"g.48264246C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186885C>T"	""	"pathogenic"	""
"0000706769"	"0"	"99"	"17"	"48264236"	"48264237"	"del"	"0"	"00085"	"COL1A1_000354"	"g.48264236_48264237del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72656333"	"0"	""	""	"g.50186875_50186876del"	""	"pathogenic"	""
"0000706770"	"0"	"99"	"17"	"48264232"	"48264232"	"subst"	"0"	"03704"	"COL1A1_000264"	"g.48264232C>A"	""	"{PMID:Labhard et al., 1988:3244312} {PMID:Cohn et al., 1988:3170557}"	""	""	""	"Unknown"	""	"rs72656334"	"0"	""	""	"g.50186871C>A"	""	"pathogenic"	""
"0000706771"	"0"	"99"	"17"	"48264232"	"48264232"	"del"	"0"	"00085"	"COL1A1_000355"	"g.48264232del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72656335"	"0"	""	""	"g.50186871del"	""	"pathogenic"	""
"0000706772"	"0"	"99"	"17"	"48264225"	"48264226"	"del"	"0"	"03704"	"COL1A1_000356"	"g.48264225_48264226del"	""	"{PMID:Willing et al., 1994:7942841}"	""	""	""	"Unknown"	""	"rs72656336"	"0"	""	""	"g.50186864_50186865del"	""	"pathogenic"	""
"0000706773"	"0"	"99"	"17"	"48264220"	"48264220"	"subst"	"5.68708E-5"	"00085"	"COL1A1_000701"	"g.48264220T>C"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186859T>C"	""	"pathogenic"	""
"0000706774"	"0"	"99"	"17"	"48264208"	"48264208"	"subst"	"0"	"03853"	"COL1A1_000538"	"g.48264208G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186847G>A"	""	"pathogenic"	""
"0000706775"	"20"	"99"	"17"	"48264208"	"48264208"	"subst"	"0"	"03879"	"COL1A1_000538"	"g.48264208G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186847G>A"	""	"pathogenic"	""
"0000706776"	"20"	"99"	"17"	"48264208"	"48264208"	"subst"	"0"	"00085"	"COL1A1_000538"	"g.48264208G>A"	""	"{PMID:Pavón de Paz et al., 2016:27178384}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186847G>A"	""	"pathogenic"	""
"0000706777"	"0"	"99"	"17"	"48264199"	"48264199"	"subst"	"0"	"03879"	"COL1A1_000846"	"g.48264199G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186838G>A"	""	"pathogenic"	""
"0000706778"	"0"	"79"	"17"	"48264177"	"48264177"	"del"	"0"	"00085"	"COL1A1_001282"	"g.48264177del"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706779"	"0"	"99"	"17"	"48264169"	"48264169"	"del"	"0"	"00085"	"COL1A1_001081"	"g.48264169del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186808del"	""	"pathogenic"	""
"0000706780"	"0"	"99"	"17"	"48264169"	"48264169"	"del"	"0"	"00085"	"COL1A1_001081"	"g.48264169del"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186808del"	""	"pathogenic"	""
"0000706781"	"0"	"75"	"17"	"48264168"	"48264168"	"subst"	"0"	"00475"	"COL1A1_000647"	"g.48264168T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186807T>C"	""	"VUS"	""
"0000706782"	"10"	"99"	"17"	"48264163"	"48264163"	"subst"	"0"	"00085"	"COL1A1_000454"	"g.48264163C>T"	""	"{ECTS2008:0034:Cundy et al., 2008}"	""	""	""	"Unknown"	""	"rs72656337"	"0"	""	""	"g.50186802C>T"	""	"pathogenic"	""
"0000706783"	"0"	"99"	"17"	"48264163"	"48264163"	"subst"	"0"	"00085"	"COL1A1_000454"	"g.48264163C>T"	""	"{PMID:McInerney-Leo et al., 2015:24891183}"	""	""	""	"Unknown"	""	"rs72656337"	"0"	""	""	"g.50186802C>T"	""	"pathogenic"	""
"0000706784"	"11"	"99"	"17"	"48264163"	"48264163"	"subst"	"0"	"03884"	"COL1A1_000454"	"g.48264163C>T"	""	"{PMID:Le Quesne Stabej et al., 2017:28173822}"	""	""	""	"Unknown"	""	"rs72656337"	"0"	""	""	"g.50186802C>T"	""	"pathogenic"	""
"0000706785"	"20"	"95"	"17"	"48264163"	"48264163"	"subst"	"0"	"03897"	"COL1A1_000454"	"g.48264163C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline"	""	"rs72656337"	"0"	""	""	"g.50186802C>T"	""	"VUS"	""
"0000706786"	"0"	"99"	"17"	"48264155"	"48264163"	"del"	"0"	"03704"	"COL1A1_000357"	"g.48264155_48264163del"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs74315149"	"0"	""	""	"g.50186794_50186802del"	""	"pathogenic"	""
"0000706787"	"0"	"99"	"17"	"48264162"	"48264162"	"del"	"0"	"03870"	"COL1A1_000530"	"g.48264162del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186801del"	""	"pathogenic"	""
"0000706788"	"0"	"99"	"17"	"48264160"	"48264160"	"subst"	"0"	"00085"	"COL1A1_000265"	"g.48264160C>T"	""	"{PMID:Lindahl et al., 2011:21344539}"	""	""	""	"Unknown"	""	"rs72656338"	"0"	""	""	"g.50186799C>T"	""	"pathogenic"	""
"0000706789"	"0"	"99"	"17"	"48264160"	"48264160"	"subst"	"0"	"00085"	"COL1A1_000265"	"g.48264160C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	"rs72656338"	"0"	""	""	""	""	"VUS"	""
"0000706790"	"0"	"75"	"17"	"48264160"	"48264160"	"subst"	"0"	"03897"	"COL1A1_001310"	"g.48264160C>A"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186799C>A"	""	"VUS"	""
"0000706791"	"0"	"99"	"17"	"48264158"	"48264158"	"subst"	"0"	"00085"	"COL1A1_000266"	"g.48264158A>C"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72656339"	"0"	""	""	"g.50186797A>C"	""	"pathogenic"	""
"0000706792"	"0"	"77"	"17"	"48264127"	"48264127"	"subst"	"8.12308E-6"	"00085"	"COL1A1_001154"	"g.48264127C>T"	""	"{PMID:Lampart et al., 2018:30567240}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186766C>T"	""	"likely pathogenic"	""
"0000706793"	"0"	"99"	"17"	"48264117"	"48264117"	"dup"	"0"	"01819"	"COL1A1_000791"	"g.48264117dup"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186756dup"	""	"pathogenic"	""
"0000706794"	"0"	"99"	"17"	"48264088"	"48264088"	"subst"	"0"	"03870"	"COL1A1_001040"	"g.48264088C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186727C>A"	""	"pathogenic"	""
"0000706795"	"0"	"95"	"17"	"48264079"	"48264079"	"subst"	"0"	"03894"	"COL1A1_001097"	"g.48264079G>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706796"	"0"	"99"	"17"	"48264065"	"48264069"	"dup"	"0"	"03879"	"COL1A1_000885"	"g.48264065_48264069dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186704_50186708dup"	""	"pathogenic"	""
"0000706797"	"0"	"95"	"17"	"48264068"	"48264068"	"del"	"0"	"01819"	"COL1A1_000990"	"g.48264068del"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186707del"	""	"VUS"	""
"0000706798"	"0"	"51"	"17"	"48264063"	"48264063"	"subst"	"0"	"00085"	"COL1A1_000563"	"g.48264063C>G"	""	""	""	""	""	"Unknown"	""	"rs3205325"	"0"	""	""	"g.50186702C>G"	""	"VUS"	""
"0000706799"	"0"	"11"	"17"	"48264060"	"48264060"	"subst"	"4.48145E-5"	"03891"	"COL1A1_001070"	"g.48264060C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186699C>T"	""	"likely benign"	""
"0000706800"	"0"	"99"	"17"	"48264058"	"48264058"	"dup"	"0"	"00085"	"COL1A1_001075"	"g.48264058dup"	""	"{PMID:Rolvien et al., 2018:29946973}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186697dup"	""	"pathogenic"	""
"0000706801"	"0"	"99"	"17"	"48264056"	"48264056"	"del"	"0"	"03897"	"COL1A1_001304"	"g.48264056del"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186695del"	""	"pathogenic"	""
"0000706802"	"0"	"93"	"17"	"48264049"	"48264049"	"subst"	"0.000211902"	"00085"	"COL1A1_000702"	"g.48264049C>T"	""	"{PMID:Zhang et al., 2011:21667357}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186688C>T"	""	"VUS"	""
"0000706803"	"0"	"93"	"17"	"48264049"	"48264049"	"subst"	"0.000211902"	"00085"	"COL1A1_000702"	"g.48264049C>T"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186688C>T"	""	"VUS"	""
"0000706804"	"0"	"95"	"17"	"48264049"	"48264049"	"subst"	"0.000211902"	"03894"	"COL1A1_000702"	"g.48264049C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706805"	"21"	"75"	"17"	"48264049"	"48264049"	"subst"	"0.000211902"	"03894"	"COL1A1_000702"	"g.48264049C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706806"	"0"	"99"	"17"	"48264024"	"48264036"	"del"	"0"	"03704"	"COL1A1_000358"	"g.48264024_48264036del"	""	"{PMID:Willing et al., 1996:8808594}"	""	""	""	"Unknown"	""	"rs74315166"	"0"	""	""	"g.50186663_50186675del"	""	"pathogenic"	""
"0000706807"	"0"	"35"	"17"	"48264030"	"48264030"	"subst"	"0"	"03855"	"COL1A1_000623"	"g.48264030A>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186669A>C"	""	"VUS"	""
"0000706808"	"0"	"99"	"17"	"48264028"	"48264028"	"del"	"0"	"03879"	"COL1A1_000856"	"g.48264028del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186667del"	""	"pathogenic"	""
"0000706809"	"21"	"99"	"17"	"48264028"	"48264028"	"del"	"0"	"03879"	"COL1A1_000856"	"g.48264028del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186667del"	""	"pathogenic"	""
"0000706810"	"0"	"99"	"17"	"48264025"	"48264025"	"subst"	"0"	"01819"	"COL1A1_000267"	"g.48264025T>C"	""	"{PMID:Symoens et al., 2004:15235039}"	""	""	""	"Unknown"	""	"rs72656340"	"0"	""	""	"g.50186664T>C"	""	"pathogenic"	""
"0000706811"	"0"	"99"	"17"	"48264025"	"48264025"	"subst"	"0"	"03879"	"COL1A1_000267"	"g.48264025T>C"	""	""	""	""	""	"Unknown"	""	"rs72656340"	"0"	""	""	"g.50186664T>C"	""	"pathogenic"	""
"0000706812"	"0"	"99"	"17"	"48264009"	"48264009"	"subst"	"0"	"00085"	"COL1A1_000268"	"g.48264009C>T"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72656341"	"0"	""	""	"g.50186648C>T"	""	"pathogenic"	""
"0000706813"	"0"	"99"	"17"	"48264009"	"48264009"	"subst"	"0"	"00475"	"COL1A1_000268"	"g.48264009C>T"	""	""	""	""	""	"Unknown"	""	"rs72656341"	"0"	""	""	"g.50186648C>T"	""	"pathogenic"	""
"0000706814"	"11"	"99"	"17"	"48264008"	"48264008"	"subst"	"0"	"03870"	"COL1A1_000551"	"g.48264008C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186647C>T"	""	"pathogenic"	""
"0000706815"	"0"	"99"	"17"	"48264008"	"48264008"	"subst"	"0"	"03870"	"COL1A1_000551"	"g.48264008C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186647C>T"	""	"pathogenic"	""
"0000706816"	"0"	"95"	"17"	"48264008"	"48264008"	"subst"	"0"	"03897"	"COL1A1_000551"	"g.48264008C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186647C>T"	""	"VUS"	""
"0000706817"	"0"	"95"	"17"	"48263870"	"48263870"	"subst"	"0"	"03894"	"COL1A1_001127"	"g.48263870T>C"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706818"	"0"	"95"	"17"	"48263869"	"48263869"	"subst"	"0"	"03897"	"COL1A1_001309"	"g.48263869C>T"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186508C>T"	""	"VUS"	""
"0000706819"	"0"	"99"	"17"	"48264071"	"48264077"	"del"	"0"	"01819"	"COL1A1_000792"	"g.48264071_48264077del"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186710_50186716del"	""	"pathogenic"	""
"0000706820"	"0"	"99"	"17"	"48264053"	"48264053"	"del"	"0"	"01819"	"COL1A1_000793"	"g.48264053del"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186692del"	""	"pathogenic"	""
"0000706821"	"0"	"99"	"17"	"48264049"	"48264049"	"del"	"0"	"01819"	"COL1A1_000794"	"g.48264049del"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186688del"	""	"pathogenic"	""
"0000706822"	"0"	"99"	"17"	"48264012"	"48264015"	"del"	"0"	"01819"	"COL1A1_000795"	"g.48264012_48264015del"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186651_50186654del"	""	"pathogenic"	""
"0000706823"	"0"	"99"	"17"	"48263868"	"48263868"	"subst"	"0"	"01819"	"COL1A1_000801"	"g.48263868C>A"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186507C>A"	""	"pathogenic"	""
"0000706824"	"21"	"99"	"17"	"48263868"	"48263868"	"subst"	"0"	"03879"	"COL1A1_000801"	"g.48263868C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186507C>A"	""	"pathogenic"	""
"0000706825"	"21"	"99"	"17"	"48263868"	"48263868"	"subst"	"0"	"03879"	"COL1A1_000801"	"g.48263868C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186507C>A"	""	"pathogenic"	""
"0000706826"	"10"	"99"	"17"	"48263868"	"48263868"	"subst"	"0"	"03879"	"COL1A1_000801"	"g.48263868C>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186507C>A"	""	"pathogenic"	""
"0000706827"	"0"	"99"	"17"	"48263868"	"48263868"	"subst"	"0"	"03872"	"COL1A1_000801"	"g.48263868C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706828"	"0"	"99"	"17"	"48263860"	"48263860"	"subst"	"0"	"01819"	"COL1A1_000802"	"g.48263860A>T"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186499A>T"	""	"pathogenic"	""
"0000706829"	"0"	"99"	"17"	"48263859"	"48263859"	"subst"	"0"	"03853"	"COL1A1_000470"	"g.48263859C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186498C>T"	""	"pathogenic"	""
"0000706830"	"0"	"99"	"17"	"48263858"	"48263858"	"subst"	"0"	"03885"	"COL1A1_000974"	"g.48263858C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186497C>T"	""	"pathogenic"	""
"0000706831"	"0"	"99"	"17"	"48263858"	"48263858"	"subst"	"0"	"03863"	"COL1A1_001044"	"g.48263858C>A"	""	""	"BsrI"	""	""	"Unknown"	""	""	"0"	""	""	"g.50186497C>A"	""	"pathogenic"	""
"0000706832"	"0"	"99"	"17"	"48263854"	"48263854"	"subst"	"0"	"00085"	"COL1A1_000269"	"g.48263854C>G"	""	"{PMID:Chessler et al., 1993:8349697}"	""	""	""	"Unknown"	""	"rs72656342"	"0"	""	""	"g.50186493C>G"	""	"pathogenic"	""
"0000706833"	"0"	"97"	"17"	"48263852"	"48263852"	"subst"	"0"	"03704"	"COL1A1_000680"	"g.48263852G>C"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186491G>C"	""	"likely pathogenic"	""
"0000706834"	"0"	"57"	"17"	"48263848"	"48263848"	"subst"	"0"	"03865"	"COL1A1_000767"	"g.48263848T>G"	""	"{PMID:Lu et al., 2013:24147872}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186487T>G"	""	"likely pathogenic"	""
"0000706835"	"0"	"99"	"17"	"48263845"	"48263845"	"subst"	"0"	"03853"	"COL1A1_000518"	"g.48263845G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186484G>A"	""	"pathogenic"	""
"0000706836"	"0"	"99"	"17"	"48263841"	"48263841"	"subst"	"0"	"03863"	"COL1A1_001045"	"g.48263841C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186480C>A"	""	"pathogenic"	""
"0000706837"	"0"	"77"	"17"	"48263830"	"48263830"	"subst"	"0"	"03885"	"COL1A1_000975"	"g.48263830C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186469C>T"	""	"likely pathogenic"	""
"0000706838"	"0"	"95"	"17"	"48263828"	"48263828"	"subst"	"0"	"03894"	"COL1A1_001143"	"g.48263828A>C"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706839"	"0"	"99"	"17"	"48263826"	"48263826"	"subst"	"0"	"01819"	"COL1A1_000803"	"g.48263826G>T"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186465G>T"	""	"pathogenic"	""
"0000706840"	"0"	"99"	"17"	"48263818"	"48263818"	"subst"	"4.06065E-6"	"00085"	"COL1A1_000833"	"g.48263818C>T"	""	"{PMID:Wu et al., 2014:25289482}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186457C>T"	""	"pathogenic"	""
"0000706841"	"0"	"99"	"17"	"48263802"	"48263802"	"subst"	"0"	"00085"	"COL1A1_001167"	"g.48263802T>A"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706842"	"0"	"99"	"17"	"48263792"	"48263801"	"del"	"0"	"00085"	"COL1A1_001168"	"g.48263792_48263801del"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706843"	"0"	"95"	"17"	"48263798"	"48263798"	"del"	"0"	"03894"	"COL1A1_001115"	"g.48263798del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706844"	"0"	"97"	"17"	"48263790"	"48263790"	"subst"	"0"	"03865"	"COL1A1_000768"	"g.48263790G>T"	""	"{PMID:Lu et al., 2013:24147872}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186429G>T"	""	"likely pathogenic"	""
"0000706845"	"0"	"99"	"17"	"48263790"	"48263790"	"subst"	"0"	"03863"	"COL1A1_001046"	"g.48263790G>A"	""	""	"MboI"	""	""	"Unknown"	""	""	"0"	""	""	"g.50186429G>A"	""	"pathogenic"	""
"0000706846"	"0"	"97"	"17"	"48263790"	"48263790"	"subst"	"0"	"00085"	"COL1A1_001046"	"g.48263790G>A"	""	"{PMID:Zhang et al., 2017:27748872}"	"MboI"	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706847"	"0"	"99"	"17"	"48263788"	"48263788"	"subst"	"0"	"00085"	"COL1A1_000899"	"g.48263788A>G"	""	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186427A>G"	""	"pathogenic"	""
"0000706848"	"0"	"99"	"17"	"48263786"	"48263786"	"subst"	"0"	"03865"	"COL1A1_000769"	"g.48263786G>T"	""	"{PMID:Lu et al., 2013:24147872}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186425G>T"	""	"pathogenic"	""
"0000706849"	"0"	"99"	"17"	"48263786"	"48263786"	"subst"	"0"	"01819"	"COL1A1_000769"	"g.48263786G>T"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186425G>T"	""	"pathogenic"	""
"0000706850"	"0"	"99"	"17"	"48263786"	"48263786"	"subst"	"0"	"03704"	"COL1A1_000270"	"g.48263786G>C"	""	"{PMID:Pace et al., 2001:11432962}"	""	""	""	"Unknown"	""	"rs34940368"	"0"	""	""	"g.50186425G>C"	""	"pathogenic"	""
"0000706851"	"0"	"99"	"17"	"48263786"	"48263786"	"subst"	"0"	"01819"	"COL1A1_000270"	"g.48263786G>C"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	"rs34940368"	"0"	""	""	"g.50186425G>C"	""	"pathogenic"	""
"0000706852"	"10"	"99"	"17"	"48263786"	"48263786"	"subst"	"0"	"03879"	"COL1A1_000270"	"g.48263786G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs34940368"	"0"	""	""	"g.50186425G>C"	""	"pathogenic"	""
"0000706853"	"10"	"99"	"17"	"48263786"	"48263786"	"subst"	"0"	"03879"	"COL1A1_000270"	"g.48263786G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	"rs34940368"	"0"	""	""	"g.50186425G>C"	""	"pathogenic"	""
"0000706854"	"0"	"99"	"17"	"48263773"	"48263773"	"subst"	"0"	"00085"	"COL1A1_000524"	"g.48263773G>A"	""	"{PMID:Swinnen et al., 2009:19358256}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186412G>A"	""	"pathogenic"	""
"0000706855"	"0"	"99"	"17"	"48263773"	"48263773"	"subst"	"0"	"01819"	"COL1A1_000524"	"g.48263773G>A"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186412G>A"	""	"pathogenic"	""
"0000706856"	"0"	"99"	"17"	"48263758"	"48263758"	"subst"	"0"	"03870"	"COL1A1_000664"	"g.48263758G>A"	""	"{PMID:Gentile et al., 2013:22753364}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186397G>A"	""	"pathogenic"	""
"0000706857"	"0"	"99"	"17"	"48263758"	"48263758"	"subst"	"0"	"03870"	"COL1A1_000664"	"g.48263758G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186397G>A"	""	"pathogenic"	""
"0000706858"	"0"	"99"	"17"	"48263758"	"48263758"	"subst"	"0"	"03870"	"COL1A1_000664"	"g.48263758G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186397G>A"	""	"pathogenic"	""
"0000706859"	"0"	"99"	"17"	"48263758"	"48263758"	"subst"	"0"	"03870"	"COL1A1_000664"	"g.48263758G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186397G>A"	""	"pathogenic"	""
"0000706860"	"0"	"99"	"17"	"48263748"	"48263748"	"subst"	"0"	"03861"	"COL1A1_000749"	"g.48263748C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186387C>T"	""	"pathogenic"	""
"0000706861"	"0"	"99"	"17"	"48263747"	"48263747"	"subst"	"0"	"00085"	"COL1A1_000271"	"g.48263747C>A"	""	"{PMID:Lamande et al., 1995:7721766}"	""	""	""	"Unknown"	""	"rs72656343"	"0"	""	""	"g.50186386C>A"	""	"pathogenic"	""
"0000706862"	"0"	"99"	"17"	"48263716"	"48263716"	"subst"	"0"	"03704"	"COL1A1_000272"	"g.48263716G>A"	""	"{PMID:Ries-Levavi et al., 2004:15024745}"	""	""	""	"Unknown"	""	"rs72656344"	"0"	""	""	"g.50186355G>A"	""	"pathogenic"	""
"0000706863"	"0"	"99"	"17"	"48263714"	"48263714"	"dup"	"0"	"00085"	"COL1A1_000359"	"g.48263714dup"	""	"{PMID:Bateman et al., 1989:2500431}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186353dup"	""	"pathogenic"	""
"0000706864"	"0"	"99"	"17"	"48263709"	"48263709"	"subst"	"0"	"00085"	"COL1A1_000275"	"g.48263709C>T"	""	"{PMID:Hartikka et al., 2004:15241796}"	""	""	""	"Unknown"	""	"rs72656345"	"0"	""	""	"g.50186348C>T"	""	"pathogenic"	""
"0000706865"	"0"	"99"	"17"	"48263708"	"48263708"	"subst"	"0"	"03885"	"COL1A1_000976"	"g.48263708C>T"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186347C>T"	""	"pathogenic"	""
"0000706866"	"0"	"99"	"17"	"48263696"	"48263696"	"del"	"0"	"01819"	"COL1A1_000796"	"g.48263696del"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186335del"	""	"pathogenic"	""
"0000706867"	"0"	"99"	"17"	"48263677"	"48263677"	"subst"	"0"	"03861"	"COL1A1_000656"	"g.48263677C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186316C>A"	""	"pathogenic"	""
"0000706868"	"10"	"99"	"17"	"48263677"	"48263677"	"subst"	"0"	"03862"	"COL1A1_000656"	"g.48263677C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186316C>A"	""	"pathogenic"	""
"0000706869"	"21"	"99"	"17"	"48263382"	"48263382"	"subst"	"0"	"00085"	"COL1A1_000921"	"g.48263382C>T"	""	"{PMID:Mackenroth et al., 2016:26799614}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186021C>T"	""	"pathogenic"	""
"0000706870"	"0"	"99"	"17"	"48263231"	"48263231"	"subst"	"0"	"03885"	"COL1A1_000979"	"g.48263231T>A"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185870T>A"	""	"pathogenic"	""
"0000706871"	"0"	"99"	"17"	"48263374"	"48263379"	"del"	"0"	"00085"	"COL1A1_000361"	"g.48263374_48263379del"	""	"{PMID:Chessler et al., 1993:8349697}"	""	""	""	"Unknown"	""	"rs72656346"	"0"	""	""	"g.50186013_50186018del"	""	"pathogenic"	""
"0000706872"	"11"	"57"	"17"	"48263378"	"48263378"	"subst"	"2.45823E-5"	"03879"	"COL1A1_000855"	"g.48263378C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706873"	"11"	"37"	"17"	"48263378"	"48263378"	"subst"	"2.45823E-5"	"03879"	"COL1A1_000855"	"g.48263378C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706874"	"11"	"33"	"17"	"48263378"	"48263378"	"subst"	"2.45823E-5"	"03879"	"COL1A1_000855"	"g.48263378C>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186017C>T"	""	"benign"	""
"0000706875"	"0"	"99"	"17"	"48263378"	"48263378"	"subst"	"0"	"01819"	"COL1A1_000797"	"g.48263378C>A"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186017C>A"	""	"pathogenic"	""
"0000706876"	"0"	"95"	"17"	"48263373"	"48263373"	"subst"	"0"	"03894"	"COL1A1_001109"	"g.48263373A>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706877"	"11"	"99"	"17"	"48263369"	"48263369"	"subst"	"0.00065995"	"03853"	"COL1A1_000539"	"g.48263369C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186008C>T"	""	"pathogenic"	""
"0000706878"	"0"	"33"	"17"	"48263369"	"48263369"	"subst"	"0.00065995"	"00085"	"COL1A1_000539"	"g.48263369C>T"	""	"{PMID:Lindert et al., 2016:27380894}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186008C>T"	""	"benign"	""
"0000706879"	"0"	"59"	"17"	"48263366"	"48263366"	"subst"	"0"	"03865"	"COL1A1_000770"	"g.48263366G>A"	""	"{PMID:Lu et al., 2013:24147872}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186005G>A"	""	"pathogenic"	""
"0000706880"	"0"	"99"	"17"	"48263366"	"48263366"	"subst"	"0"	"00085"	"COL1A1_000770"	"g.48263366G>A"	""	"{PMID:Hruskova et al., 2016:27132807}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50186005G>A"	""	"pathogenic"	""
"0000706881"	"0"	"99"	"17"	"48263336"	"48263336"	"subst"	"0"	"03885"	"COL1A1_000977"	"g.48263336G>A"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185975G>A"	""	"pathogenic"	""
"0000706882"	"0"	"99"	"17"	"48263333"	"48263333"	"del"	"0"	"00085"	"COL1A1_000360"	"g.48263333del"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72656347"	"0"	""	""	"g.50185972del"	""	"pathogenic"	""
"0000706883"	"0"	"33"	"17"	"48263320"	"48263320"	"subst"	"2.03341E-5"	"03855"	"COL1A1_000628"	"g.48263320C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185959C>T"	""	"benign"	""
"0000706884"	"0"	"99"	"17"	"48263306"	"48263306"	"subst"	"4.8773E-5"	"03853"	"COL1A1_000537"	"g.48263306C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185945C>T"	""	"pathogenic"	""
"0000706885"	"0"	"99"	"17"	"48263295"	"48263295"	"subst"	"0"	"03885"	"COL1A1_000978"	"g.48263295C>G"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185934C>G"	""	"pathogenic"	""
"0000706886"	"21"	"57"	"17"	"48263284"	"48263284"	"subst"	"0"	"03861"	"COL1A1_001155"	"g.48263284T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706887"	"0"	"99"	"17"	"48263283"	"48263283"	"subst"	"0"	"03879"	"COL1A1_000862"	"g.48263283G>C"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185922G>C"	""	"pathogenic"	""
"0000706888"	"0"	"99"	"17"	"48263283"	"48263283"	"del"	"0"	"01819"	"COL1A1_000798"	"g.48263283del"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185922del"	""	"pathogenic"	""
"0000706889"	"0"	"11"	"17"	"48263274"	"48263274"	"subst"	"0.00135661"	"00085"	"COL1A1_000512"	"g.48263274C>T"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs41316723"	"0"	""	""	"g.50185913C>T"	""	"likely benign"	""
"0000706890"	"0"	"55"	"17"	"48263252"	"48263252"	"subst"	"0"	"00085"	"COL1A1_000561"	"g.48263252G>T"	""	""	""	""	""	"Unknown"	""	"rs3205509"	"0"	""	""	"g.50185891G>T"	""	"VUS"	""
"0000706891"	"0"	"53"	"17"	"48263233"	"48263233"	"subst"	"1.21857E-5"	"01819"	"COL1A1_000805"	"g.48263233T>C"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185872T>C"	""	"VUS"	""
"0000706892"	"11"	"99"	"17"	"48263227"	"48263227"	"subst"	"0"	"00085"	"COL1A1_000705"	"g.48263227G>A"	""	"{PMID:Takagi et al., 2011:21834035}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185866G>A"	""	"pathogenic"	""
"0000706893"	"0"	"99"	"17"	"48263227"	"48263227"	"subst"	"0"	"00085"	"COL1A1_000705"	"g.48263227G>A"	""	"{PMID:Marshall et al., 2016:27549894}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185866G>A"	""	"pathogenic"	""
"0000706894"	"0"	"99"	"17"	"48263224"	"48263224"	"subst"	"0"	"00085"	"COL1A1_000274"	"g.48263224A>C"	""	"{PMID:Chessler et al., 1993:8349697}"	""	""	""	"Unknown"	""	"rs72656348"	"0"	""	""	"g.50185863A>C"	""	"pathogenic"	""
"0000706895"	"0"	"77"	"17"	"48263221"	"48263221"	"subst"	"0"	"00085"	"COL1A1_001179"	"g.48263221A>G"	""	"{PMID:Mrosk et al., 2018:29499418}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706896"	"0"	"55"	"17"	"48263216"	"48263216"	"subst"	"0"	"00085"	"COL1A1_000560"	"g.48263216G>T"	""	""	""	""	""	"Unknown"	""	"rs2586486"	"0"	""	""	"g.50185855G>T"	""	"VUS"	""
"0000706897"	"0"	"11"	"17"	"48263208"	"48263208"	"subst"	"0.00290962"	"00085"	"COL1A1_000513"	"g.48263208G>A"	""	"{PMID:Zhuang et al., 1996:8829649} {PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	"rs1800219"	"0"	""	""	"g.50185847G>A"	""	"likely benign"	""
"0000706898"	"0"	"55"	"17"	"48263206"	"48263206"	"subst"	"0.000784317"	"03855"	"COL1A1_000615"	"g.48263206T>C"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185845T>C"	""	"VUS"	""
"0000706899"	"0"	"53"	"17"	"48263206"	"48263206"	"subst"	"0.000784317"	"01819"	"COL1A1_000615"	"g.48263206T>C"	""	"{PMID:Malfait et al., 2013:23692737}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185845T>C"	""	"VUS"	""
"0000706900"	"11"	"97"	"17"	"48263194"	"48263194"	"subst"	"0"	"00085"	"COL1A1_000991"	"g.48263194A>C"	""	"{PMID:Huang et al., 2016:27577215}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185833A>C"	""	"likely pathogenic"	""
"0000706901"	"0"	"97"	"17"	"48263158"	"48263158"	"subst"	"0"	"00085"	"COL1A1_000818"	"g.48263158A>T"	""	"{PMID:Stephen et al., 2014:24668929}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185797A>T"	""	"likely pathogenic"	""
"0000706902"	"0"	"99"	"17"	"48263152"	"48263160"	"del"	"0"	"00085"	"COL1A1_000900"	"g.48263152_48263160del"	""	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185791_50185799del"	""	"pathogenic"	""
"0000706903"	"0"	"99"	"17"	"48263150"	"48263150"	"subst"	"0"	"00085"	"COL1A1_000276"	"g.48263150C>T"	""	"{PMID:Pollitt et al., 2006:16786509}"	""	""	""	"Unknown"	""	"rs72656349"	"0"	""	""	"g.50185789C>T"	""	"pathogenic"	""
"0000706904"	"0"	"99"	"17"	"48263150"	"48263150"	"subst"	"0"	"03704"	"COL1A1_000276"	"g.48263150C>T"	""	"{PMID:Bodian et al., 2009:18996919}"	""	""	""	"Unknown"	""	"rs72656349"	"0"	""	""	"g.50185789C>T"	""	"pathogenic"	""
"0000706905"	"0"	"99"	"17"	"48263150"	"48263150"	"subst"	"0"	"03704"	"COL1A1_000276"	"g.48263150C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	"rs72656349"	"0"	""	""	"g.50185789C>T"	""	"pathogenic"	""
"0000706906"	"0"	"99"	"17"	"48263150"	"48263150"	"subst"	"0"	"03704"	"COL1A1_000276"	"g.48263150C>T"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	"rs72656349"	"0"	""	""	"g.50185789C>T"	""	"pathogenic"	""
"0000706907"	"0"	"59"	"17"	"48263150"	"48263150"	"subst"	"0"	"03865"	"COL1A1_000276"	"g.48263150C>T"	""	""	""	""	""	"Unknown"	""	"rs72656349"	"0"	""	""	"g.50185789C>T"	""	"pathogenic"	""
"0000706908"	"0"	"95"	"17"	"48263150"	"48263150"	"subst"	"0"	"01819"	"COL1A1_000276"	"g.48263150C>T"	""	"{PMID:Essawi 2018:29150909}, {DOI:Essawi 2018:10.1002/mgg3.331}"	""	""	""	"Unknown"	""	"rs72656349"	"0"	""	""	"g.50185789C>T"	""	"VUS"	""
"0000706909"	"0"	"99"	"17"	"48263150"	"48263150"	"subst"	"0"	"03863"	"COL1A1_000276"	"g.48263150C>T"	""	""	"TaqI"	""	""	"Unknown"	""	"rs72656349"	"0"	""	""	"g.50185789C>T"	""	"pathogenic"	""
"0000706910"	"20"	"99"	"17"	"48263141"	"48263151"	"dup"	"0"	"03704"	"COL1A1_000681"	"g.48263141_48263151dup"	""	"{PMID:Pyott et al., 2011:21239989}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185780_50185790dup"	""	"pathogenic"	""
"0000706911"	"11"	"77"	"17"	"48263148"	"48263148"	"subst"	"0"	"03879"	"COL1A1_000881"	"g.48263148A>T"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185787A>T"	""	"likely pathogenic"	""
"0000706912"	"0"	"95"	"17"	"48263148"	"48263148"	"subst"	"0"	"03894"	"COL1A1_000881"	"g.48263148A>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706913"	"21"	"99"	"17"	"48263137"	"48263144"	"delins"	"0"	"03863"	"COL1A1_001047"	"g.48263137_48263144delinsTG"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185776_50185783delinsTG"	""	"pathogenic"	""
"0000706914"	"0"	"97"	"17"	"48263140"	"48263140"	"del"	"0"	"00085"	"COL1A1_000704"	"g.48263140del"	""	"{PMID:Takagi et al., 2011:21834035}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185779del"	""	"likely pathogenic"	""
"0000706915"	"0"	"99"	"17"	"48263138"	"48263138"	"subst"	"0"	"00085"	"COL1A1_001169"	"g.48263138C>T"	""	"{PMID:Augusciak-Duma et al., 2018:29543922}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706916"	"0"	"99"	"17"	"48263022"	"48263040"	"del"	"0"	"03894"	"COL1A1_001151"	"g.48263022_48263040del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	"a mini-gene construct harbouring the variant suggests it leads to exon skipping through inactivation of the splice site"	"Unknown"	""	""	"0"	""	""	"g.50185661_50185679del"	""	"pathogenic"	""
"0000706917"	"0"	"99"	"17"	"48263011"	"48263013"	"del"	"0"	"03885"	"COL1A1_000980"	"g.48263011_48263013del"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185650_50185652del"	""	"pathogenic"	""
"0000706918"	"0"	"95"	"17"	"48263011"	"48263012"	"del"	"0"	"03894"	"COL1A1_001133"	"g.48263011_48263012del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706919"	"0"	"51"	"17"	"48262977"	"48262977"	"subst"	"0.000986524"	"00085"	"COL1A1_000558"	"g.48262977A>G"	""	""	""	""	""	"Unknown"	""	"rs41316725"	"0"	""	""	"g.50185616A>G"	""	"VUS"	""
"0000706920"	"0"	"51"	"17"	"48262967"	"48262967"	"subst"	"0"	"00085"	"COL1A1_000557"	"g.48262967T>G"	""	""	""	""	""	"Unknown"	""	"rs1059454"	"0"	""	""	"g.50185606T>G"	""	"VUS"	""
"0000706921"	"0"	"51"	"17"	"48262962"	"48262962"	"subst"	"0"	"00085"	"COL1A1_000556"	"g.48262962G>T"	""	""	""	""	""	"Unknown"	""	"rs1059475"	"0"	""	""	"g.50185601G>T"	""	"VUS"	""
"0000706922"	"0"	"99"	"17"	"48263010"	"48263011"	"del"	"0"	"03890"	"COL1A1_001067"	"g.48263010_48263011del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185649_50185650del"	""	"pathogenic"	""
"0000706923"	"0"	"11"	"17"	"48263001"	"48263001"	"subst"	"0.000644018"	"00085"	"COL1A1_000514"	"g.48263001G>A"	""	"{PMID:Chan et al., 2008:18272325}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185640G>A"	""	"likely benign"	""
"0000706924"	"0"	"99"	"17"	"48262993"	"48262993"	"subst"	"0"	"01819"	"COL1A1_000799"	"g.48262993C>T"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185632C>T"	""	"pathogenic"	""
"0000706925"	"0"	"99"	"17"	"48262984"	"48262984"	"subst"	"0"	"00085"	"COL1A1_000898"	"g.48262984G>A"	""	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185623G>A"	""	"pathogenic"	""
"0000706926"	"0"	"99"	"17"	"48262970"	"48262970"	"dup"	"0"	"03885"	"COL1A1_000981"	"g.48262970dup"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185609dup"	""	"pathogenic"	""
"0000706927"	"0"	"99"	"17"	"48262966"	"48262966"	"subst"	"0"	"00085"	"COL1A1_000736"	"g.48262966G>A"	""	"{PMID:Fuccio et al., 2011:21884818}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185605G>A"	""	"pathogenic"	""
"0000706928"	"0"	"99"	"17"	"48262966"	"48262966"	"subst"	"0"	"01819"	"COL1A1_000736"	"g.48262966G>A"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185605G>A"	""	"pathogenic"	""
"0000706929"	"0"	"99"	"17"	"48262966"	"48262966"	"subst"	"0"	"03879"	"COL1A1_000736"	"g.48262966G>A"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185605G>A"	""	"pathogenic"	""
"0000706930"	"11"	"99"	"17"	"48262949"	"48262950"	"ins"	"0"	"00085"	"COL1A1_000780"	"g.48262949_48262950insT"	""	"{PMID:Chen et al., 2013:23548228}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185588_50185589insT"	""	"pathogenic"	""
"0000706931"	"0"	"99"	"17"	"48262949"	"48262950"	"ins"	"0"	"00085"	"COL1A1_000780"	"g.48262949_48262950insT"	""	"{PMID:Lin et al., 2015:26627451}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185588_50185589insT"	""	"pathogenic"	""
"0000706932"	"0"	"99"	"17"	"48262948"	"48262948"	"subst"	"0"	"00085"	"COL1A1_000277"	"g.48262948A>T"	""	"{PMID:Rugolotto et al., 2007:18001342}"	""	""	""	"Unknown"	""	"rs72656350"	"0"	""	""	"g.50185587A>T"	""	"pathogenic"	""
"0000706933"	"0"	"51"	"17"	"48262945"	"48262945"	"subst"	"0"	"00085"	"COL1A1_000555"	"g.48262945G>C"	""	""	""	""	""	"Unknown"	""	"rs17857117"	"0"	""	""	"g.50185584G>C"	""	"VUS"	""
"0000706934"	"0"	"99"	"17"	"48262942"	"48262942"	"subst"	"0"	"01819"	"COL1A1_000804"	"g.48262942A>G"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185581A>G"	""	"pathogenic"	""
"0000706935"	"0"	"99"	"17"	"48262937"	"48262937"	"subst"	"0"	"00085"	"COL1A1_000472"	"g.48262937C>G"	""	"{PMID:Ke et al., 2009:19199251}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185576C>G"	""	"pathogenic"	""
"0000706936"	"0"	"95"	"17"	"48262937"	"48262937"	"subst"	"0"	"03894"	"COL1A1_000472"	"g.48262937C>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706937"	"0"	"99"	"17"	"48262937"	"48262937"	"subst"	"0"	"00085"	"COL1A1_000278"	"g.48262937C>A"	""	"{PMID:Pace et al., 2002:11826020}"	""	""	""	"Unknown"	""	"rs72656351"	"0"	""	""	"g.50185576C>A"	""	"pathogenic"	""
"0000706938"	"0"	"99"	"17"	"48262933"	"48262933"	"subst"	"0"	"00085"	"COL1A1_000897"	"g.48262933A>C"	""	"{PMID:Kishta et al., 2015:26371943}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185572A>C"	""	"pathogenic"	""
"0000706939"	"0"	"99"	"17"	"48262925"	"48262931"	"delins"	"0"	"03873"	"COL1A1_000809"	"g.48262925_48262931delinsTCCAG"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185564_50185570delinsTCCAG"	""	"pathogenic"	""
"0000706940"	"0"	"99"	"17"	"48262918"	"48262929"	"delins"	"0"	"00085"	"COL1A1_000284"	"g.48262918_48262929delinsGACCTGGTCT"	""	"{PMID:Roschger et al., 2008:18311573}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185557_50185568delinsGACCTGGTCT"	""	"pathogenic"	""
"0000706941"	"0"	"95"	"17"	"48262927"	"48262928"	"ins"	"0"	"03894"	"COL1A1_001099"	"g.48262927_48262928insGGGCCACATCCTT"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706942"	"0"	"99"	"17"	"48262927"	"48262927"	"subst"	"0"	"03863"	"COL1A1_001048"	"g.48262927G>T"	""	""	"XcmI"	""	""	"Unknown"	""	""	"0"	""	""	"g.50185566G>T"	""	"pathogenic"	""
"0000706943"	"0"	"99"	"17"	"48262894"	"48262928"	"del"	"0"	"01819"	"COL1A1_000800"	"g.48262894_48262928del"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185533_50185567del"	""	"pathogenic"	""
"0000706944"	"0"	"99"	"17"	"48262930"	"48262930"	"dup"	"0"	"03879"	"COL1A1_000858"	"g.48262930dup"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185569dup"	""	"pathogenic"	""
"0000706945"	"0"	"99"	"17"	"48262930"	"48262930"	"dup"	"0"	"03870"	"COL1A1_000858"	"g.48262930dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185569dup"	""	"pathogenic"	""
"0000706946"	"0"	"99"	"17"	"48262930"	"48262930"	"dup"	"0"	"03870"	"COL1A1_000858"	"g.48262930dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185569dup"	""	"pathogenic"	""
"0000706947"	"0"	"99"	"17"	"48262920"	"48262920"	"dup"	"0"	"00085"	"COL1A1_000362"	"g.48262920dup"	""	"{PMID:Benusiene and Kucinskas, 2003:12590186}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185559dup"	""	"pathogenic"	""
"0000706948"	"0"	"95"	"17"	"48262894"	"48262919"	"del"	"0"	"03894"	"COL1A1_001122"	"g.48262894_48262919del"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706949"	"0"	"75"	"17"	"48262915"	"48262915"	"subst"	"0"	"03855"	"COL1A1_000616"	"g.48262915C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185554C>T"	""	"VUS"	""
"0000706950"	"0"	"77"	"17"	"48262915"	"48262915"	"subst"	"0"	"03867"	"COL1A1_000778"	"g.48262915C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185554C>A"	""	"likely pathogenic"	""
"0000706951"	"0"	"99"	"17"	"48262906"	"48262906"	"dup"	"0"	"00085"	"COL1A1_001055"	"g.48262906dup"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185545dup"	""	"pathogenic"	""
"0000706952"	"0"	"75"	"17"	"48262902"	"48262902"	"subst"	"0"	"03897"	"COL1A1_001311"	"g.48262902C>G"	""	"{PMID:Zhytnik 2019:31447884}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706953"	"0"	"99"	"17"	"48262896"	"48262900"	"del"	"0"	"03704"	"COL1A1_000363"	"g.48262896_48262900del"	""	"{PMID:Willing et al., 1990:2295701}"	""	""	""	"Unknown"	""	"rs72656352"	"0"	""	""	"g.50185535_50185539del"	"{ClinVar17307}"	"pathogenic"	""
"0000706954"	"0"	"53"	"17"	"48262895"	"48262895"	"subst"	"4.06984E-6"	"01819"	"COL1A1_000806"	"g.48262895C>T"	""	"{PMID:Symoens et al., 2014:25146735}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185534C>T"	""	"VUS"	""
"0000706955"	"0"	"97"	"17"	"48262895"	"48262895"	"subst"	"4.06984E-6"	"00085"	"COL1A1_000806"	"g.48262895C>T"	""	"{PMID:Zhang et al., 2017:27748872}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706956"	"0"	"99"	"17"	"48262894"	"48262894"	"subst"	"0"	"03885"	"COL1A1_000982"	"g.48262894C>A"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185533C>A"	""	"pathogenic"	""
"0000706957"	"0"	"95"	"17"	"48262894"	"48262894"	"subst"	"0"	"03894"	"COL1A1_000982"	"g.48262894C>A"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706958"	"0"	"95"	"17"	"48262891"	"48262891"	"subst"	"0"	"03894"	"COL1A1_001128"	"g.48262891A>G"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000706959"	"0"	"99"	"17"	"48262883"	"48262883"	"subst"	"0"	"03885"	"COL1A1_000983"	"g.48262883C>G"	""	"{PMID:Bardai et al.,2016:27509835}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185522C>G"	""	"pathogenic"	""
"0000706960"	"10"	"99"	"17"	"48262872"	"48262872"	"del"	"0"	"03879"	"COL1A1_000874"	"g.48262872del"	""	"{PMID:Lindahl et al., 2015:25944380}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185511del"	""	"pathogenic"	""
"0000706961"	"0"	"77"	"17"	"48262871"	"48262871"	"subst"	"0.000784872"	"03871"	"COL1A1_000784"	"g.48262871A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.50185510A>G"	""	"likely pathogenic"	""
"0000706962"	"0"	"99"	"17"	"48262867"	"48262867"	"subst"	"0"	"00085"	"COL1A1_000279"	"g.48262867A>G"	""	"{PMID:Oliver et al., 1996:8723681}"	""	""	""	"Unknown"	""	"rs72656353"	"0"	""	""	"g.50185506A>G"	""	"pathogenic"	""
"0000706963"	"0"	"99"	"17"	"48262867"	"48262867"	"subst"	"0"	"00085"	"COL1A1_000279"	"g.48262867A>G"	""	"{PMID:Ho Duy et al., 2016:27519266}"	""	""	""	"Unknown"	""	"rs72656353"	"0"	""	""	"g.50185506A>G"	""	"pathogenic"	""
"0000712588"	"0"	"99"	"17"	"48272138"	"48272138"	"subst"	"0"	"00006"	"COL1A1_000526"	"g.48272138G>A"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000712589"	"0"	"79"	"17"	"48274595"	"48274596"	"del"	"0"	"00006"	"COL1A1_000376"	"g.48274595_48274596del"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50197234_50197235del"	""	"likely pathogenic"	""
"0000712590"	"0"	"79"	"17"	"48264068"	"48264068"	"del"	"0"	"00006"	"COL1A1_000990"	"g.48264068del"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186707del"	""	"likely pathogenic"	""
"0000712591"	"0"	"99"	"17"	"48268222"	"48268222"	"subst"	"0"	"00006"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000712592"	"0"	"77"	"17"	"48264160"	"48264160"	"subst"	"0"	"00006"	"COL1A1_000265"	"g.48264160C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186799C>T"	""	"likely pathogenic"	""
"0000712593"	"0"	"99"	"17"	"48272955"	"48272955"	"del"	"0"	"00006"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195594del"	""	"pathogenic"	""
"0000712594"	"0"	"79"	"17"	"48267471"	"48267471"	"subst"	"0"	"00006"	"COL1A1_000431"	"g.48267471T>C"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50190110T>C"	""	"likely pathogenic"	""
"0000712595"	"0"	"99"	"17"	"48270354"	"48270354"	"subst"	"0"	"00006"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic"	""
"0000712596"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00006"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000712597"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00006"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000712598"	"0"	"99"	"17"	"48273002"	"48273002"	"subst"	"0"	"00006"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195641G>A"	""	"pathogenic"	""
"0000712599"	"0"	"79"	"17"	"48273300"	"48273300"	"subst"	"0"	"00006"	"COL1A1_001576"	"g.48273300C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50195939C>T"	""	"likely pathogenic"	""
"0000712600"	"0"	"79"	"17"	"48275336"	"48275336"	"subst"	"0"	"00006"	"COL1A1_001578"	"g.48275336C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50197975C>T"	""	"likely pathogenic"	""
"0000712601"	"0"	"79"	"17"	"48272640"	"48272640"	"del"	"0"	"00006"	"COL1A1_001575"	"g.48272640del"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195279del"	""	"likely pathogenic"	""
"0000712602"	"0"	"99"	"17"	"48277238"	"48277238"	"subst"	"0"	"00006"	"COL1A1_000920"	"g.48277238G>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199877G>T"	""	"pathogenic"	""
"0000712603"	"0"	"79"	"17"	"48264068"	"48264068"	"del"	"0"	"00006"	"COL1A1_000990"	"g.48264068del"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50186707del"	""	"likely pathogenic"	""
"0000712604"	"0"	"79"	"17"	"48275521"	"48275521"	"subst"	"0"	"00006"	"COL1A1_001433"	"g.48275521C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50198160C>T"	""	"likely pathogenic"	""
"0000712605"	"0"	"99"	"17"	"48272162"	"48272162"	"del"	"0"	"00006"	"COL1A1_001574"	"g.48272162del"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194801del"	""	"pathogenic"	""
"0000712606"	"0"	"79"	"17"	"48275354"	"48275354"	"subst"	"0"	"00006"	"COL1A1_001579"	"g.48275354C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	"Substitution of the first glycine in a triplet of the triple helix of collagen will certainly affect triple helix formation and is therefore always considered to affect function and should be considered as pathogenic"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197993C>T"	""	"likely pathogenic"	""
"0000712607"	"0"	"99"	"17"	"48272138"	"48272138"	"subst"	"0"	"00006"	"COL1A1_000526"	"g.48272138G>A"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000712608"	"0"	"79"	"17"	"48268249"	"48268249"	"subst"	"0"	"00006"	"COL1A1_000620"	"g.48268249C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190888C>T"	""	"likely pathogenic"	""
"0000712609"	"0"	"99"	"17"	"48273886"	"48273886"	"subst"	"0"	"00006"	"COL1A1_001577"	"g.48273886C>A"	""	"{PMID:Demir 2021:33470886}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50196525C>A"	""	"pathogenic"	""
"0000712627"	"11"	"59"	"17"	"48278798"	"48278798"	"subst"	"0.000236043"	"00006"	"COL1A1_000579"	"g.48278798C>T"	""	"{PMID:Demir 2021:33470886}"	""	""	"inherited from unaffected father"	"Germline"	""	""	"0"	""	""	"g.50201437C>T"	""	"pathogenic (dominant)"	""
"0000726485"	"0"	"50"	"17"	"48263189"	"48263189"	"subst"	"0"	"02326"	"COL1A1_001580"	"g.48263189C>T"	""	""	""	"COL1A1(NM_000088.3):c.4198G>A (p.A1400T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185828C>T"	""	"VUS"	""
"0000726486"	"0"	"50"	"17"	"48263320"	"48263320"	"subst"	"2.03341E-5"	"02329"	"COL1A1_000628"	"g.48263320C>T"	""	""	""	"COL1A1(NM_000088.3):c.4067G>A (p.R1356H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50185959C>T"	""	"VUS"	""
"0000726487"	"0"	"30"	"17"	"48263370"	"48263370"	"subst"	"1.22956E-5"	"01943"	"COL1A1_001581"	"g.48263370G>A"	""	""	""	"COL1A1(NM_000088.3):c.4017C>T (p.G1339=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186009G>A"	""	"likely benign"	""
"0000726488"	"0"	"50"	"17"	"48263704"	"48263704"	"subst"	"6.90372E-5"	"01943"	"COL1A1_001446"	"g.48263704C>T"	""	""	""	"COL1A1(NM_000088.3):c.3979G>A (p.G1327S, p.(Gly1327Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50186343C>T"	""	"VUS"	""
"0000726489"	"0"	"90"	"17"	"48265343"	"48265343"	"subst"	"0"	"02329"	"COL1A1_001334"	"g.48265343C>A"	""	""	""	"COL1A1(NM_000088.3):c.3263G>T (p.G1088V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50187982C>A"	""	"pathogenic"	""
"0000726490"	"0"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"02329"	"COL1A1_000752"	"g.48265890C>T"	""	""	""	"COL1A1(NM_000088.3):c.3207+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50188529C>T"	""	"pathogenic"	""
"0000726491"	"0"	"50"	"17"	"48266365"	"48266365"	"subst"	"7.31392E-5"	"02326"	"COL1A1_001582"	"g.48266365G>T"	""	""	""	"COL1A1(NM_000088.3):c.2944C>A (p.P982T), COL1A1(NM_000088.4):c.2944C>A (p.(Pro982Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50189004G>T"	""	"VUS"	""
"0000726492"	"0"	"30"	"17"	"48266851"	"48266851"	"subst"	"0.000175246"	"01804"	"COL1A1_000607"	"g.48266851C>T"	""	""	""	"COL1A1(NM_000088.3):c.2716G>A (p.(Gly906Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50189490C>T"	""	"likely benign"	""
"0000726493"	"0"	"90"	"17"	"48267264"	"48267264"	"subst"	"0"	"02325"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	"COL1A1(NM_000088.4):c.2569G>T (p.G857C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50189903C>A"	""	"pathogenic"	""
"0000726494"	"0"	"90"	"17"	"48267378"	"48267378"	"subst"	"0"	"02329"	"COL1A1_001583"	"g.48267378C>G"	""	""	""	"COL1A1(NM_000088.3):c.2543G>C (p.G848A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50190017C>G"	""	"pathogenic"	""
"0000726495"	"0"	"30"	"17"	"48268553"	"48268553"	"subst"	"0"	"02329"	"COL1A1_001584"	"g.48268553C>G"	""	""	""	"COL1A1(NM_000088.3):c.2235+191G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50191192C>G"	""	"likely benign"	""
"0000726496"	"0"	"50"	"17"	"48271372"	"48271372"	"subst"	"0"	"02326"	"COL1A1_001585"	"g.48271372G>A"	""	""	""	"COL1A1(NM_000088.3):c.1699C>T (p.P567S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50194011G>A"	""	"VUS"	""
"0000726497"	"0"	"30"	"17"	"48271548"	"48271548"	"subst"	"0.00222388"	"01804"	"COL1A1_000411"	"g.48271548G>T"	""	""	""	"COL1A1(NM_000088.3):c.1615-4C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50194187G>T"	""	"likely benign"	""
"0000726498"	"0"	"10"	"17"	"48273737"	"48273737"	"subst"	"0.00754999"	"02326"	"COL1A1_001198"	"g.48273737C>A"	""	""	""	"COL1A1(NM_000088.3):c.904-9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50196376C>A"	""	"benign"	""
"0000726499"	"0"	"50"	"17"	"48276673"	"48276673"	"subst"	"6.85176E-6"	"02326"	"COL1A1_001560"	"g.48276673G>A"	""	""	""	"COL1A1(NM_000088.3):c.385C>T (p.P129S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199312G>A"	""	"VUS"	""
"0000726500"	"0"	"50"	"17"	"48277281"	"48277281"	"subst"	"0"	"01943"	"COL1A1_001586"	"g.48277281C>T"	""	""	""	"COL1A1(NM_000088.3):c.131G>A (p.G44D, p.(Gly44Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.50199920C>T"	""	"VUS"	""
"0000729868"	"1"	"90"	"17"	"48272619"	"48272619"	"subst"	"0"	"00000"	"COL1A1_000085"	"g.48272619C>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_000088.3:c.1273G>A:p.(Gly425Ser)"	""	"Germline"	""	""	"0"	""	""	"g.50195258C>T"	""	"pathogenic (dominant)"	""
"0000729869"	"0"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"00000"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_000088.3:c.2299G>A:p.(Gly767Ser)"	""	"De novo"	""	""	"0"	""	""	"g.50190861C>T"	""	"pathogenic (dominant)"	""
"0000729870"	"1"	"90"	"17"	"48269147"	"48269147"	"subst"	"0"	"00000"	"COL1A1_000777"	"g.48269147A>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_000088.3:c.2127+2T>A"	""	"Germline"	""	""	"0"	""	""	"g.50191786A>T"	""	"pathogenic (dominant)"	""
"0000729871"	"1"	"90"	"17"	"48276953"	"48276953"	"subst"	"0"	"00000"	"COL1A1_001565"	"g.48276953T>C"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_000088.3:c.299-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.50199592T>C"	""	"pathogenic (dominant)"	""
"0000729872"	"1"	"90"	"17"	"48273995"	"48273995"	"subst"	"0"	"00000"	"COL1A1_000031"	"g.48273995C>T"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_000088.3:c.841G>A:(p.Gly281Ser)"	""	"Germline"	""	""	"0"	""	""	"g.50196634C>T"	""	"pathogenic (dominant)"	""
"0000760643"	"0"	"79"	"17"	"48274406"	"48274406"	"subst"	"0"	"01396"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197045C>T"	""	"pathogenic (dominant)"	""
"0000760644"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"01396"	"COL1A1_000203"	"g.48265492C>A"	""	""	""	""	""	"Unknown"	""	""	""	""	""	"g.50188131C>A"	""	"pathogenic (dominant)"	""
"0000760645"	"0"	"70"	"17"	"48264870"	"48264870"	"subst"	"0"	"01396"	"COL1A1_001588"	"g.48264870C>T"	""	""	""	""	""	"Unknown"	""	""	""	""	""	"g.50187509C>T"	""	"likely pathogenic"	""
"0000760646"	"0"	"70"	"17"	"48266809"	"48266809"	"subst"	"0"	"01396"	"COL1A1_001589"	"g.48266809C>T"	""	""	""	""	""	"Unknown"	""	""	""	""	""	"g.50189448C>T"	""	"likely pathogenic"	""
"0000760686"	"0"	"70"	"17"	"48270053"	"48270053"	"subst"	"0"	"01396"	"COL1A1_001590"	"g.48270053C>T"	""	""	""	""	""	"Unknown"	""	""	""	""	""	"g.50192692C>T"	""	"likely pathogenic"	""
"0000760687"	"0"	"70"	"17"	"48272803"	"48272803"	"subst"	"0"	"01396"	"COL1A1_001314"	"g.48272803C>T"	""	""	""	""	""	"Unknown"	""	""	""	""	""	"g.50195442C>T"	""	"likely pathogenic"	""
"0000760688"	"0"	"50"	"17"	"48263257"	"48263257"	"subst"	"0"	"01396"	"COL1A1_001587"	"g.48263257A>G"	""	""	""	""	""	"Unknown"	""	""	""	""	""	"g.50185896A>G"	""	"VUS"	"ACMG"
"0000760689"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"01396"	"COL1A1_000166"	"g.48267237C>T"	""	""	""	""	""	"Unknown"	""	"rs67445413"	"0"	""	""	"g.50189876C>T"	""	"pathogenic"	""
"0000760690"	"0"	"90"	"17"	"48271393"	"48271393"	"subst"	"0"	"01396"	"COL1A1_000110"	"g.48271393C>T"	""	""	""	""	""	"Unknown"	""	""	""	""	""	"g.50194032C>T"	""	"pathogenic"	""
"0000760994"	"21"	"70"	"17"	"48264879"	"48264879"	"subst"	"0"	"00006"	"COL1A1_001591"	"g.48264879C>T"	""	"{PMID:Tang 2021:33777089}"	""	""	"ACMG PM1, PM2, PP3, PP5"	"Germline"	""	""	"0"	""	""	"g.50187518C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000760995"	"0"	"90"	"17"	"48270009"	"48270009"	"subst"	"0"	"00006"	"COL1A1_001592"	"g.48270009C>T"	""	"{PMID:Tang 2021:33777089}"	""	""	"ACMG PS2, PM1, PM2, PM5"	"De novo"	""	""	"0"	""	""	"g.50192648C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000765939"	"20"	"57"	"17"	"48264286"	"48264286"	"subst"	"0"	"04060"	"COL1A1_001593"	"g.48264286G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186925G>C"	""	"VUS"	""
"0000786661"	"0"	"50"	"17"	"48266635"	"48266635"	"subst"	"0"	"00006"	"COL1A1_001594"	"g.48266635C>A"	""	"{PMID:Lefebvre 2021:32732226}"	""	""	"non-concordant phenotype: no fracture, no hypominéralisation"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189274C>A"	""	"VUS"	""
"0000791067"	"0"	"50"	"17"	"48264124"	"48264124"	"subst"	"0"	"01164"	"COL1A1_001595"	"g.48264124C>T"	""	""	""	""	"ACMG: PM1, PM2_SUP, PP2, PP3, in conserved Fibrillar Collagen domain, gnomAD missense constraint: 3,5"	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000808066"	"0"	"10"	"17"	"48263208"	"48263208"	"subst"	"0.00290962"	"02326"	"COL1A1_000513"	"g.48263208G>A"	""	""	""	"COL1A1(NM_000088.3):c.4179C>T (p.S1393=, p.=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000808067"	"0"	"30"	"17"	"48263877"	"48263877"	"subst"	"0"	"01943"	"COL1A1_001449"	"g.48263877G>A"	""	""	""	"COL1A1(NM_000088.3):c.3815-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808068"	"0"	"50"	"17"	"48264226"	"48264226"	"subst"	"0"	"01943"	"COL1A1_001596"	"g.48264226C>T"	""	""	""	"COL1A1(NM_000088.3):c.3589G>A (p.D1197N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808069"	"0"	"30"	"17"	"48266096"	"48266096"	"subst"	"0.000564458"	"01804"	"COL1A1_001337"	"g.48266096A>G"	""	""	""	"COL1A1(NM_000088.3):c.3099+7T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808070"	"0"	"30"	"17"	"48266096"	"48266096"	"subst"	"0.000564458"	"02326"	"COL1A1_001337"	"g.48266096A>G"	""	""	""	"COL1A1(NM_000088.3):c.3099+7T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808071"	"0"	"30"	"17"	"48266109"	"48266109"	"subst"	"4.46701E-5"	"01943"	"COL1A1_001597"	"g.48266109G>A"	""	""	""	"COL1A1(NM_000088.3):c.3093C>T (p.G1031=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808072"	"0"	"30"	"17"	"48266645"	"48266645"	"subst"	"0"	"02329"	"COL1A1_001598"	"g.48266645G>A"	""	""	""	"COL1A1(NM_000088.3):c.2830-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808073"	"0"	"70"	"17"	"48266871"	"48266871"	"subst"	"0"	"02327"	"COL1A1_001599"	"g.48266871C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000808074"	"0"	"30"	"17"	"48267389"	"48267389"	"subst"	"4.07239E-5"	"01943"	"COL1A1_001600"	"g.48267389G>A"	""	""	""	"COL1A1(NM_000088.3):c.2532C>T (p.A844=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808075"	"0"	"90"	"17"	"48268204"	"48268204"	"subst"	"0"	"02327"	"COL1A1_000138"	"g.48268204C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000808076"	"0"	"30"	"17"	"48272069"	"48272069"	"subst"	"0.000509556"	"02326"	"COL1A1_001517"	"g.48272069C>A"	""	""	""	"COL1A1(NM_000088.3):c.1461+13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808077"	"0"	"30"	"17"	"48272469"	"48272469"	"subst"	"0.00695891"	"01804"	"COL1A1_001520"	"g.48272469G>A"	""	""	""	"COL1A1(NM_000088.3):c.1300-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808078"	"0"	"30"	"17"	"48272470"	"48272470"	"subst"	"0"	"02329"	"COL1A1_001601"	"g.48272470G>C"	""	""	""	"COL1A1(NM_000088.3):c.1300-9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808079"	"0"	"30"	"17"	"48272623"	"48272623"	"subst"	"0.000278851"	"02329"	"COL1A1_001523"	"g.48272623G>A"	""	""	""	"COL1A1(NM_000088.3):c.1269C>T (p.P423=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808080"	"0"	"30"	"17"	"48272970"	"48272970"	"subst"	"4.0623E-6"	"02329"	"COL1A1_001602"	"g.48272970A>G"	""	""	""	"COL1A1(NM_000088.3):c.1113T>C (p.G371=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808081"	"0"	"30"	"17"	"48274351"	"48274351"	"subst"	"0"	"02329"	"COL1A1_001603"	"g.48274351A>G"	""	""	""	"COL1A1(NM_000088.3):c.804+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808082"	"0"	"10"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"02326"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	"COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000808083"	"0"	"30"	"17"	"48276573"	"48276573"	"subst"	"0"	"02329"	"COL1A1_001604"	"g.48276573G>C"	""	""	""	"COL1A1(NM_000088.3):c.471+14C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000808084"	"0"	"50"	"17"	"48277237"	"48277237"	"subst"	"0"	"01804"	"COL1A1_001090"	"g.48277237G>A"	""	""	""	"COL1A1(NM_000088.3):c.175C>T (p.(Arg59Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808085"	"0"	"90"	"17"	"48278874"	"48278874"	"subst"	"0"	"02329"	"COL1A1_000546"	"g.48278874T>C"	""	""	""	"COL1A1(NM_000088.3):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000814749"	"0"	"90"	"17"	"48277238"	"48277238"	"subst"	"0"	"04098"	"COL1A1_000920"	"g.48277238G>T"	""	""	""	""	"nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199877G>T"	""	"pathogenic (dominant)"	""
"0000815008"	"11"	"90"	"17"	"48263847"	"48263850"	"del"	"0"	"00006"	"COL1A1_001606"	"g.48263847_48263850del"	""	"{PMID:Prasad 2016:26502894}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186486_50186489del"	""	"pathogenic (dominant)"	""
"0000817709"	"0"	"99"	"17"	"48273283"	"48273283"	"subst"	"0"	"03894"	"COL1A1_000392"	"g.48273283C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50195922C>T"	""	"pathogenic"	""
"0000817710"	"0"	"99"	"17"	"48267237"	"48267237"	"subst"	"0"	"03894"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Li 2019:30715774}, {DOI:Li 2019:10.1002/humu.23718}"	""	""	""	"De novo"	""	"rs67445413"	"0"	""	""	"g.50189876C>T"	""	"pathogenic (dominant)"	""
"0000818584"	"0"	"97"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00085"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Datta et al., 2021:33796912} {DOI:Datta et al., 2021:10.1007/s00198-021-05933-3}"	""	"C 613 C>G and as c.613Gp.P205A"	""	"Germline"	"yes"	""	"0"	""	""	"g.50197978G>C"	""	"likely pathogenic (dominant)"	""
"0000824496"	"0"	"77"	"17"	"48265234"	"48265234"	"subst"	"0"	"03779"	"COL1A1_001607"	"g.48265234T>G"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs112742487"	"0"	""	""	""	""	"likely pathogenic"	""
"0000825652"	"0"	"90"	"17"	"48265483"	"48265483"	"subst"	"0"	"01164"	"COL1A1_000204"	"g.48265483C>T"	""	"PMID: 26177859, 27509835, 21594610, 21667357, 28810924, 28498836, 23079818, 1634225, 18311573, 18845533"	""	""	"ACMG: PS4, PM1, PP1_MOD, PM2_SUP, PP3"	"Germline/De novo (untested)"	"?"	"rs72654802"	""	""	""	""	"VCV000017322.4"	"pathogenic (dominant)"	"ACMG"
"0000830809"	"0"	"90"	"17"	"48267225"	"48267225"	"del"	"0"	"00006"	"COL1A1_000455"	"g.48267225del"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189864del"	""	"pathogenic"	""
"0000830811"	"0"	"90"	"17"	"48278837"	"48278837"	"subst"	"0"	"00006"	"COL1A1_000823"	"g.48278837A>C"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50201476A>C"	""	"pathogenic"	""
"0000830812"	"0"	"90"	"17"	"48272138"	"48272138"	"subst"	"0"	"00006"	"COL1A1_000526"	"g.48272138G>A"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic"	""
"0000830813"	"0"	"90"	"17"	"48272840"	"48272840"	"subst"	"0"	"00006"	"COL1A1_000824"	"g.48272840C>T"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195479C>T"	""	"pathogenic"	""
"0000830814"	"0"	"90"	"17"	"48267046"	"48267064"	"dup"	"0"	"00006"	"COL1A1_000825"	"g.48267046_48267064dup"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189685_50189703dup"	""	"pathogenic"	""
"0000830815"	"0"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"00006"	"COL1A1_000826"	"g.48274540C>A"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197179C>A"	""	"pathogenic"	""
"0000830816"	"0"	"90"	"17"	"48273535"	"48273536"	"dup"	"0"	"00006"	"COL1A1_000827"	"g.48273535_48273536dup"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50196174_50196175dup"	""	"pathogenic"	""
"0000830817"	"0"	"90"	"17"	"48269175"	"48269175"	"subst"	"0"	"00006"	"COL1A1_000104"	"g.48269175C>T"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50191814C>T"	""	"pathogenic"	""
"0000830820"	"0"	"90"	"17"	"48264456"	"48264456"	"subst"	"0"	"00006"	"COL1A1_000257"	"g.48264456C>T"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50187095C>T"	""	"pathogenic"	""
"0000830824"	"0"	"90"	"17"	"48265962"	"48265962"	"subst"	"0"	"00006"	"COL1A1_000191"	"g.48265962C>A"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188601C>A"	""	"pathogenic"	""
"0000830825"	"0"	"90"	"17"	"48264456"	"48264456"	"subst"	"0"	"00006"	"COL1A1_000257"	"g.48264456C>T"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50187095C>T"	""	"pathogenic"	""
"0000830826"	"0"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"00006"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190861C>T"	""	"pathogenic"	""
"0000830829"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"00006"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188131C>T"	""	"pathogenic"	""
"0000830831"	"0"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"00006"	"COL1A1_000828"	"g.48273524C>G"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50196163C>G"	""	"pathogenic"	""
"0000830833"	"0"	"90"	"17"	"48267092"	"48267092"	"subst"	"0"	"00006"	"COL1A1_000829"	"g.48267092C>G"	""	"{PMID:Rauch 2014:25086671}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189731C>G"	""	"pathogenic"	""
"0000833445"	"0"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"00006"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Zhytnik 2017:28810924}"	""	"c.1821+1G>GA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000833446"	"0"	"90"	"17"	"48268204"	"48268204"	"subst"	"0"	"00006"	"COL1A1_000892"	"g.48268204C>A"	""	"{PMID:Zhytnik 2017:28810924}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000833448"	"0"	"90"	"17"	"48273002"	"48273002"	"subst"	"0"	"00006"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Zhytnik 2017:28810924}"	""	"1081C>CT"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000836048"	"0"	"90"	"17"	"48272138"	"48272138"	"subst"	"0"	"04098"	"COL1A1_000526"	"g.48272138G>A"	""	""	""	""	"nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic (dominant)"	""
"0000847687"	"0"	"99"	"17"	"48274365"	"48274376"	"del"	"0"	"03897"	"COL1A1_001608"	"g.48274365_48274376del"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.50197004_50197015del"	""	"pathogenic (dominant)"	"other"
"0000854982"	"0"	"30"	"17"	"48262977"	"48262977"	"subst"	"0.000986524"	"02326"	"COL1A1_000558"	"g.48262977A>G"	""	""	""	"COL1A1(NM_000088.3):c.4281T>C (p.I1427=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854983"	"0"	"30"	"17"	"48263274"	"48263274"	"subst"	"0.00135661"	"02326"	"COL1A1_000512"	"g.48263274C>T"	""	""	""	"COL1A1(NM_000088.3):c.4113G>A (p.K1371=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000854984"	"0"	"90"	"17"	"48263852"	"48263852"	"del"	"0"	"02329"	"COL1A1_001609"	"g.48263852del"	""	""	""	"COL1A1(NM_000088.3):c.3834delC (p.N1279Tfs*52)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000854985"	"0"	"10"	"17"	"48266176"	"48266177"	"dup"	"0"	"02329"	"COL1A1_000738"	"g.48266176_48266177dup"	""	""	""	"COL1A1(NM_000088.3):c.3046-6_3046-5dupCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000854986"	"0"	"90"	"17"	"48269219"	"48269219"	"subst"	"0"	"02327"	"COL1A1_000103"	"g.48269219C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000854987"	"0"	"50"	"17"	"48272430"	"48272430"	"subst"	"0"	"02326"	"COL1A1_001610"	"g.48272430T>A"	""	""	""	"COL1A1(NM_000088.3):c.1331A>T (p.D444V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854988"	"0"	"10"	"17"	"48273665"	"48273665"	"subst"	"0.00146347"	"02329"	"COL1A1_001611"	"g.48273665G>T"	""	""	""	"COL1A1(NM_000088.3):c.957+10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000854989"	"0"	"90"	"17"	"48273726"	"48273726"	"del"	"0"	"02329"	"COL1A1_001612"	"g.48273726del"	""	""	""	"COL1A1(NM_000088.3):c.910delC (p.R304Vfs*237)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000854990"	"0"	"90"	"17"	"48276599"	"48276599"	"del"	"0"	"02329"	"COL1A1_000291"	"g.48276599del"	""	""	""	"COL1A1(NM_000088.3):c.459delT (p.G154Afs*111)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000854991"	"0"	"50"	"17"	"48276630"	"48276630"	"subst"	"2.71818E-5"	"01943"	"COL1A1_001613"	"g.48276630G>C"	""	""	""	"COL1A1(NM_000088.3):c.428C>G (p.P143R, p.(Pro143Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000854992"	"0"	"30"	"17"	"48276630"	"48276630"	"subst"	"2.71818E-5"	"02329"	"COL1A1_001613"	"g.48276630G>C"	""	""	""	"COL1A1(NM_000088.3):c.428C>G (p.P143R, p.(Pro143Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865348"	"0"	"50"	"17"	"48263673"	"48263673"	"subst"	"6.50576E-5"	"01943"	"COL1A1_001442"	"g.48263673C>T"	""	""	""	"COL1A1(NM_000088.3):c.4005+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865349"	"0"	"90"	"17"	"48265926"	"48265926"	"subst"	"0"	"02327"	"COL1A1_000193"	"g.48265926C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000865350"	"0"	"90"	"17"	"48269243"	"48269244"	"del"	"0"	"02329"	"COL1A1_000640"	"g.48269243_48269244del"	""	""	""	"COL1A1(NM_000088.3):c.2037_2038delAG (p.G680Ffs*29)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000865351"	"0"	"30"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"01804"	"COL1A1_000423"	"g.48269390G>T"	""	""	""	"COL1A1(NM_000088.3):c.1984-5C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865352"	"0"	"10"	"17"	"48270355"	"48270355"	"subst"	"0.00185274"	"02329"	"COL1A1_000508"	"g.48270355G>A"	""	""	""	"COL1A1(NM_000088.3):c.1821C>T (p.(Val607Val), p.V607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000865353"	"0"	"10"	"17"	"48272827"	"48272827"	"subst"	"0.00099892"	"02329"	"COL1A1_000482"	"g.48272827C>T"	""	""	""	"COL1A1(NM_000088.3):c.1168G>A (p.A390T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000865354"	"0"	"10"	"17"	"48277107"	"48277107"	"subst"	"0.00354848"	"02329"	"COL1A1_001614"	"g.48277107G>T"	""	""	""	"COL1A1(NM_000088.3):c.298+7C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000865355"	"0"	"90"	"17"	"48278874"	"48278874"	"subst"	"0"	"02327"	"COL1A1_000546"	"g.48278874T>C"	""	""	""	"COL1A1(NM_000088.3):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000870156"	"0"	"99"	"17"	"48278811"	"48278811"	"subst"	"0"	"00085"	"COL1A1_000003"	"g.48278811C>G"	""	"{PMID:Lessel et al., 2018:30450527}"	""	""	""	"De novo"	""	"rs72667007"	"0"	""	""	"g.50201450C>G"	""	"pathogenic (dominant)"	""
"0000872426"	"1"	"90"	"17"	"48273698"	"48273698"	"subst"	"0"	"00006"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196337G>A"	""	"pathogenic (dominant)"	""
"0000872427"	"1"	"90"	"17"	"48273698"	"48273698"	"subst"	"0"	"00006"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196337G>A"	""	"pathogenic (dominant)"	""
"0000872428"	"1"	"90"	"17"	"48273698"	"48273698"	"subst"	"0"	"00006"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196337G>A"	""	"pathogenic (dominant)"	""
"0000872429"	"1"	"90"	"17"	"48273698"	"48273698"	"subst"	"0"	"00006"	"COL1A1_000043"	"g.48273698G>A"	""	"{PMID:Colman 2021:34265140}, {DOI:Colman 2021:10.1002/humu.24258}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196337G>A"	""	"pathogenic (dominant)"	""
"0000874918"	"0"	"90"	"17"	"48278837"	"48278837"	"subst"	"0"	"04098"	"COL1A1_000823"	"g.48278837A>C"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50201476A>C"	""	"pathogenic (dominant)"	""
"0000874919"	"0"	"90"	"17"	"48278837"	"48278838"	"ins"	"0"	"04098"	"COL1A1_000943"	"g.48278837_48278838insG"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50201476_50201477insG"	""	"pathogenic (dominant)"	""
"0000874920"	"0"	"90"	"17"	"48278811"	"48278811"	"subst"	"0"	"04098"	"COL1A1_000003"	"g.48278811C>G"	""	""	""	""	"Change of charge in the signal peptide prevents export of collagen and lead to accumulation in the RER"	"SUMMARY record"	""	"rs72667007"	"0"	""	""	"g.50201450C>G"	""	"pathogenic (dominant)"	""
"0000874921"	"0"	"90"	"17"	"48278808"	"48278808"	"subst"	"0"	"04098"	"COL1A1_001424"	"g.48278808G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50201447G>A"	""	"pathogenic (dominant)"	""
"0000874922"	"0"	"90"	"17"	"48278806"	"48278811"	"del"	"0"	"04098"	"COL1A1_000868"	"g.48278806_48278811del"	""	""	""	""	"Deletion of two amino acids in the signal peptide prevents export of collagen and lead to accumulation in the RER"	"SUMMARY record"	""	""	"0"	""	""	"g.50201445_50201450del"	""	"pathogenic (dominant)"	""
"0000874923"	"0"	"90"	"17"	"48278798"	"48278798"	"subst"	"0.000236043"	"04098"	"COL1A1_000579"	"g.48278798C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50201437C>T"	""	"pathogenic (dominant)"	""
"0000874924"	"0"	"90"	"17"	"48278796"	"48278796"	"subst"	"0"	"04098"	"COL1A1_000549"	"g.48278796G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50201435G>A"	""	"pathogenic (dominant)"	""
"0000874925"	"0"	"90"	"17"	"48278795"	"48278795"	"del"	"0"	"04098"	"COL1A1_000922"	"g.48278795del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50201434del"	""	"pathogenic (dominant)"	""
"0000874926"	"0"	"90"	"17"	"48278784"	"48278784"	"subst"	"0"	"04098"	"COL1A1_001071"	"g.48278784G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs794726873"	"0"	""	""	"g.50201423G>A"	"{ClinVar000173062.1}"	"pathogenic (dominant)"	""
"0000874927"	"0"	"90"	"17"	"48278771"	"48278771"	"subst"	"0"	"04098"	"COL1A1_000368"	"g.48278771C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72667008"	"0"	""	""	"g.50201410C>T"	""	"pathogenic (dominant)"	""
"0000874928"	"0"	"90"	"17"	"48278771"	"48278771"	"subst"	"0"	"04098"	"COL1A1_001572"	"g.48278771C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50201410C>G"	""	"pathogenic (dominant)"	""
"0000874929"	"0"	"90"	"17"	"48278770"	"48278770"	"subst"	"0"	"04098"	"COL1A1_001054"	"g.48278770A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50201409A>G"	""	"pathogenic (dominant)"	""
"0000874930"	"0"	"90"	"17"	"48278770"	"48278770"	"subst"	"0"	"04098"	"COL1A1_001104"	"g.48278770A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874931"	"0"	"90"	"17"	"48278767"	"48278767"	"subst"	"0"	"04098"	"COL1A1_001325"	"g.48278767C>T"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms"	"SUMMARY record"	""	""	"0"	""	""	"g.50201406C>T"	""	"pathogenic (dominant)"	""
"0000874932"	"0"	"30"	"17"	"48278756"	"48278756"	"subst"	"0.000502915"	"04098"	"COL1A1_001571"	"g.48278756A>C"	""	""	""	""	"No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50201395A>C"	""	"likely benign"	""
"0000874933"	"0"	"30"	"17"	"48277749"	"48277749"	"subst"	"0"	"04098"	"COL1A1_001234"	"g.48277749C>A"	""	""	""	""	"No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50200388C>A"	""	"likely benign"	""
"0000874934"	"0"	"70"	"17"	"48277320"	"48277321"	"delins"	"0"	"04098"	"COL1A1_000937"	"g.48277320_48277321delinsTT"	""	""	""	""	"Loss of splice acceptor site predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50199959_50199960delinsTT"	""	"likely pathogenic (dominant)"	""
"0000874935"	"0"	"90"	"17"	"48277311"	"48277311"	"subst"	"0"	"04098"	"COL1A1_000142"	"g.48277311G>C"	""	""	""	""	"Loss of splice acceptor site predicted"	"SUMMARY record"	""	"rs72667009"	"0"	""	""	"g.50199950G>C"	""	"pathogenic (dominant)"	""
"0000874936"	"0"	"90"	"17"	"48277310"	"48277310"	"subst"	"0"	"04098"	"COL1A1_001324"	"g.48277310T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199949T>C"	""	"pathogenic (dominant)"	""
"0000874937"	"0"	"90"	"17"	"48277309"	"48277309"	"subst"	"0"	"04098"	"COL1A1_000886"	"g.48277309C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199948C>T"	""	"pathogenic (dominant)"	""
"0000874938"	"0"	"90"	"17"	"48277309"	"48277309"	"subst"	"0"	"04098"	"COL1A1_000850"	"g.48277309C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199948C>G"	""	"pathogenic (dominant)"	""
"0000874939"	"0"	"90"	"17"	"48277309"	"48277309"	"subst"	"0"	"04098"	"COL1A1_001570"	"g.48277309C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199948C>A"	""	"pathogenic (dominant)"	""
"0000874940"	"0"	"90"	"17"	"48277299"	"48277305"	"del"	"0"	"04098"	"COL1A1_000873"	"g.48277299_48277305del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199938_50199944del"	""	"pathogenic (dominant)"	""
"0000874941"	"0"	"90"	"17"	"48277292"	"48277292"	"subst"	"0"	"04098"	"COL1A1_000993"	"g.48277292G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199931G>T"	""	"pathogenic (dominant)"	""
"0000874942"	"0"	"90"	"17"	"48277281"	"48277281"	"subst"	"0"	"04098"	"COL1A1_001586"	"g.48277281C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50199920C>T"	""	"pathogenic (dominant)"	""
"0000874943"	"0"	"90"	"17"	"48277271"	"48277271"	"subst"	"0"	"04098"	"COL1A1_000932"	"g.48277271G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199910G>T"	""	"pathogenic (dominant)"	""
"0000874944"	"0"	"90"	"17"	"48277269"	"48277269"	"dup"	"0"	"04098"	"COL1A1_001423"	"g.48277269dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199908dup"	""	"pathogenic (dominant)"	""
"0000874945"	"0"	"90"	"17"	"48277268"	"48277268"	"del"	"0"	"04098"	"COL1A1_001242"	"g.48277268del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874946"	"0"	"90"	"17"	"48277264"	"48277264"	"subst"	"0"	"04098"	"COL1A1_001095"	"g.48277264G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199903G>A"	""	"pathogenic (dominant)"	""
"0000874947"	"0"	"90"	"17"	"48277254"	"48277254"	"subst"	"0"	"04098"	"COL1A1_000994"	"g.48277254C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199893C>T"	""	"pathogenic (dominant)"	""
"0000874948"	"0"	"90"	"17"	"48277254"	"48277255"	"del"	"0"	"04098"	"COL1A1_001243"	"g.48277254_48277255del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874949"	"0"	"90"	"17"	"48277237"	"48277237"	"subst"	"0"	"04098"	"COL1A1_001090"	"g.48277237G>A"	""	""	""	""	"Tryptophane in the triple helix domain will disrupt trpile helix formation due to steric hindrance."	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874950"	"0"	"30"	"17"	"48277235"	"48277235"	"subst"	"0.0204306"	"04098"	"COL1A1_000500"	"g.48277235C>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted"	"SUMMARY record"	""	"rs1057297"	"0"	""	""	"g.50199874C>A"	""	"likely benign"	""
"0000874951"	"0"	"90"	"17"	"48277233"	"48277235"	"delins"	"0"	"04098"	"COL1A1_001150"	"g.48277233_48277235delinsCT"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874952"	"0"	"90"	"17"	"48277223"	"48277223"	"subst"	"0"	"04098"	"COL1A1_000925"	"g.48277223G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199862G>T"	""	"pathogenic (dominant)"	""
"0000874953"	"0"	"90"	"17"	"48277223"	"48277223"	"dup"	"0"	"04098"	"COL1A1_001049"	"g.48277223dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874954"	"0"	"90"	"17"	"48277213"	"48277213"	"subst"	"0"	"04098"	"COL1A1_000536"	"g.48277213T>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199852T>A"	""	"pathogenic (dominant)"	""
"0000874955"	"0"	"90"	"17"	"48277209"	"48277215"	"dup"	"0"	"04098"	"COL1A1_000931"	"g.48277209_48277215dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199848_50199854dup"	""	"pathogenic (dominant)"	""
"0000874956"	"0"	"90"	"17"	"48277202"	"48277202"	"subst"	"0"	"04098"	"COL1A1_001569"	"g.48277202G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199841G>T"	""	"pathogenic (dominant)"	""
"0000874957"	"0"	"90"	"17"	"48277200"	"48277200"	"del"	"0"	"04098"	"COL1A1_001134"	"g.48277200del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874958"	"0"	"90"	"17"	"48277181"	"48277181"	"del"	"0"	"04098"	"COL1A1_001164"	"g.48277181del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199820del"	""	"pathogenic (dominant)"	""
"0000874959"	"0"	"90"	"17"	"48277169"	"48277169"	"del"	"0"	"04098"	"COL1A1_000285"	"g.48277169del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72667010"	"0"	""	""	"g.50199808del"	""	"pathogenic (dominant)"	""
"0000874960"	"0"	"90"	"17"	"48277164"	"48277165"	"ins"	"0"	"04098"	"COL1A1_001144"	"g.48277164_48277165insAGTCCTT"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874961"	"0"	"90"	"17"	"48277159"	"48277159"	"subst"	"0"	"04098"	"COL1A1_001175"	"g.48277159C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199798C>A"	""	"pathogenic (dominant)"	""
"0000874962"	"0"	"90"	"17"	"48277150"	"48277150"	"subst"	"0"	"04098"	"COL1A1_001089"	"g.48277150C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874963"	"0"	"90"	"17"	"48277146"	"48277146"	"delins"	"0"	"04098"	"COL1A1_000578"	"g.48277146delinsTCCCCGGGACGGCG"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199785delinsTCCCCGGGACGGCG"	""	"pathogenic (dominant)"	""
"0000874964"	"0"	"90"	"17"	"48277146"	"48277146"	"subst"	"0"	"04098"	"COL1A1_000629"	"g.48277146C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50199785C>A"	""	"pathogenic (dominant)"	""
"0000874965"	"0"	"90"	"17"	"48277144"	"48277144"	"subst"	"0"	"04098"	"COL1A1_001244"	"g.48277144C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874966"	"0"	"90"	"17"	"48277136"	"48277136"	"del"	"0"	"04098"	"COL1A1_001112"	"g.48277136del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874967"	"0"	"90"	"17"	"48277127"	"48277127"	"subst"	"0"	"04098"	"COL1A1_000632"	"g.48277127G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199766G>T"	""	"pathogenic (dominant)"	""
"0000874968"	"0"	"30"	"17"	"48277093"	"48277099"	"del"	"0"	"04098"	"COL1A1_001568"	"g.48277093_48277099del"	""	""	""	""	"Intronic; no effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50199732_50199738del"	""	"likely benign"	""
"0000874969"	"0"	"30"	"17"	"48277081"	"48277081"	"del"	"0"	"04098"	"COL1A1_001567"	"g.48277081del"	""	""	""	""	"Intronic; no effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50199720del"	""	"likely benign"	""
"0000874970"	"0"	"90"	"17"	"48277012"	"48277145"	"del"	"0"	"04098"	"COL1A1_000687"	"g.48277012_48277145del"	""	""	""	""	"Multinucleotide deletion with loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199651_50199784del"	""	"pathogenic (dominant)"	""
"0000874971"	"0"	"90"	"17"	"48276953"	"48276953"	"subst"	"0"	"04098"	"COL1A1_001565"	"g.48276953T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199592T>C"	""	"pathogenic (dominant)"	""
"0000874972"	"0"	"90"	"17"	"48276952"	"48276952"	"subst"	"0"	"04098"	"COL1A1_001088"	"g.48276952C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874973"	"0"	"90"	"17"	"48276952"	"48276952"	"subst"	"0"	"04098"	"COL1A1_000552"	"g.48276952C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199591C>G"	""	"pathogenic (dominant)"	""
"0000874974"	"0"	"90"	"17"	"48276952"	"48276953"	"del"	"0"	"04098"	"COL1A1_000995"	"g.48276952_48276953del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199591_50199592del"	""	"pathogenic (dominant)"	""
"0000874975"	"0"	"90"	"17"	"48276950"	"48276951"	"ins"	"0"	"04098"	"COL1A1_000286"	"g.48276950_48276951insG"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72667011"	"0"	""	""	"g.50199589_50199590insG"	""	"pathogenic (dominant)"	""
"0000874976"	"0"	"90"	"17"	"48276942"	"48276942"	"del"	"0"	"04098"	"COL1A1_001085"	"g.48276942del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199581del"	""	"pathogenic (dominant)"	""
"0000874977"	"0"	"90"	"17"	"48276939"	"48276958"	"del"	"0"	"04098"	"COL1A1_000585"	"g.48276939_48276958del"	""	""	""	""	"Large deletion, encompassing part of intron 2 and exon 3. Likely loss of exon 3 with frameshift and NMD"	"SUMMARY record"	""	""	"0"	""	""	"g.50199578_50199597del"	""	"pathogenic (dominant)"	""
"0000874978"	"0"	"90"	"17"	"48276929"	"48276939"	"del"	"0"	"04098"	"COL1A1_000688"	"g.48276929_48276939del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199568_50199578del"	""	"pathogenic (dominant)"	""
"0000874979"	"0"	"90"	"17"	"48276924"	"48276924"	"subst"	"8.12222E-6"	"04098"	"COL1A1_001330"	"g.48276924C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50199563C>T"	""	"pathogenic (dominant)"	""
"0000874980"	"0"	"90"	"17"	"48276916"	"48276916"	"subst"	"0"	"04098"	"COL1A1_001126"	"g.48276916C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874981"	"0"	"90"	"17"	"48276916"	"48276916"	"subst"	"0"	"04098"	"COL1A1_001564"	"g.48276916C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199555C>A"	""	"pathogenic (dominant)"	""
"0000874982"	"0"	"90"	"17"	"48276916"	"48276917"	"delins"	"0"	"04098"	"COL1A1_000143"	"g.48276916_48276917delinsGA"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199555_50199556delinsGA"	""	"pathogenic (dominant)"	""
"0000874983"	"0"	"90"	"17"	"48276915"	"48276915"	"subst"	"0"	"04098"	"COL1A1_000169"	"g.48276915A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72667012"	"0"	""	""	"g.50199554A>G"	""	"pathogenic (dominant)"	""
"0000874984"	"0"	"70"	"17"	"48276914"	"48276914"	"subst"	"0"	"04098"	"COL1A1_001563"	"g.48276914T>A"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms"	"SUMMARY record"	""	""	"0"	""	""	"g.50199553T>A"	""	"likely pathogenic (dominant)"	""
"0000874985"	"0"	"90"	"17"	"48276816"	"48276816"	"subst"	"0"	"04098"	"COL1A1_000201"	"g.48276816T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72667013"	"0"	""	""	"g.50199455T>C"	""	"pathogenic (dominant)"	""
"0000874986"	"0"	"90"	"17"	"48276815"	"48276815"	"subst"	"0"	"04098"	"COL1A1_001318"	"g.48276815C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199454C>T"	""	"pathogenic (dominant)"	""
"0000874987"	"0"	"90"	"17"	"48276790"	"48276790"	"subst"	"0"	"04098"	"COL1A1_000944"	"g.48276790G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199429G>A"	""	"pathogenic (dominant)"	""
"0000874988"	"0"	"90"	"17"	"48276690"	"48276690"	"subst"	"0"	"04098"	"COL1A1_001354"	"g.48276690T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs193922155"	"0"	""	""	"g.50199329T>C"	""	"pathogenic (dominant)"	""
"0000874989"	"0"	"90"	"17"	"48276689"	"48276689"	"subst"	"0"	"04098"	"COL1A1_000689"	"g.48276689C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199328C>T"	""	"pathogenic (dominant)"	""
"0000874990"	"0"	"90"	"17"	"48276689"	"48276691"	"delins"	"0"	"04098"	"COL1A1_000996"	"g.48276689_48276691delinsGA"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199328_50199330delinsGA"	""	"pathogenic (dominant)"	""
"0000874991"	"0"	"90"	"17"	"48276677"	"48276677"	"dup"	"0"	"04098"	"COL1A1_000287"	"g.48276677dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic (dominant)"	""
"0000874992"	"0"	"90"	"17"	"48276677"	"48276677"	"del"	"0"	"04098"	"COL1A1_000288"	"g.48276677del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72667014"	"0"	""	""	"g.50199316del"	""	"pathogenic (dominant)"	""
"0000874993"	"0"	"90"	"17"	"48276668"	"48276669"	"ins"	"0"	"04098"	"COL1A1_000289"	"g.48276668_48276669insT"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72667015"	"0"	""	""	"g.50199307_50199308insT"	""	"pathogenic (dominant)"	""
"0000874994"	"0"	"90"	"17"	"48276667"	"48276667"	"subst"	"0"	"04098"	"COL1A1_000456"	"g.48276667G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199306G>A"	""	"pathogenic (dominant)"	""
"0000874995"	"0"	"90"	"17"	"48276646"	"48276649"	"del"	"0"	"04098"	"COL1A1_000997"	"g.48276646_48276649del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199285_50199288del"	""	"pathogenic (dominant)"	""
"0000874996"	"0"	"90"	"17"	"48276639"	"48276642"	"del"	"0"	"04098"	"COL1A1_001123"	"g.48276639_48276642del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000874997"	"0"	"90"	"17"	"48276637"	"48276637"	"del"	"0"	"04098"	"COL1A1_000682"	"g.48276637del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199276del"	""	"pathogenic (dominant)"	""
"0000874998"	"0"	"90"	"17"	"48276631"	"48276631"	"dup"	"0"	"04098"	"COL1A1_000665"	"g.48276631dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199270dup"	""	"pathogenic (dominant)"	""
"0000874999"	"0"	"90"	"17"	"48276631"	"48276631"	"del"	"0"	"04098"	"COL1A1_000290"	"g.48276631del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199270del"	""	"pathogenic (dominant)"	""
"0000875000"	"0"	"90"	"17"	"48276624"	"48276625"	"ins"	"0"	"04098"	"COL1A1_001245"	"g.48276624_48276625insG"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875001"	"0"	"90"	"17"	"48276622"	"48276622"	"del"	"0"	"04098"	"COL1A1_000463"	"g.48276622del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199261del"	""	"pathogenic (dominant)"	""
"0000875002"	"0"	"90"	"17"	"48276617"	"48276617"	"dup"	"0"	"04098"	"COL1A1_000581"	"g.48276617dup"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875003"	"0"	"90"	"17"	"48276616"	"48276616"	"subst"	"0"	"04098"	"COL1A1_000945"	"g.48276616C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199255C>A"	""	"pathogenic (dominant)"	""
"0000875004"	"0"	"90"	"17"	"48276604"	"48276604"	"dup"	"0"	"04098"	"COL1A1_000847"	"g.48276604dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199243dup"	""	"pathogenic (dominant)"	""
"0000875005"	"0"	"90"	"17"	"48276599"	"48276599"	"del"	"0"	"04098"	"COL1A1_000291"	"g.48276599del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72667017"	"0"	""	""	"g.50199238del"	""	"pathogenic (dominant)"	""
"0000875006"	"0"	"30"	"17"	"48276596"	"48276596"	"subst"	"0.00081625"	"04098"	"COL1A1_000507"	"g.48276596G>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted"	"SUMMARY record"	""	"rs41317351"	"0"	""	""	"g.50199235G>A"	""	"likely benign"	""
"0000875007"	"0"	"90"	"17"	"48276589"	"48276589"	"subst"	"0"	"04098"	"COL1A1_000998"	"g.48276589C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199228C>A"	""	"pathogenic (dominant)"	""
"0000875008"	"0"	"90"	"17"	"48276586"	"48276586"	"subst"	"0"	"04098"	"COL1A1_000202"	"g.48276586C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72667018"	"0"	""	""	"g.50199225C>T"	""	"pathogenic (dominant)"	""
"0000875009"	"0"	"90"	"17"	"48276586"	"48276586"	"subst"	"0"	"04098"	"COL1A1_000946"	"g.48276586C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50199225C>G"	""	"pathogenic (dominant)"	""
"0000875010"	"0"	"90"	"17"	"48275867"	"48275867"	"subst"	"0"	"04098"	"COL1A1_000367"	"g.48275867T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72667019"	"0"	""	""	"g.50198506T>C"	""	"pathogenic (dominant)"	""
"0000875011"	"0"	"90"	"17"	"48275867"	"48275867"	"subst"	"0"	"04098"	"COL1A1_000751"	"g.48275867T>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198506T>A"	""	"pathogenic (dominant)"	""
"0000875012"	"0"	"90"	"17"	"48275866"	"48275866"	"subst"	"0"	"04098"	"COL1A1_000141"	"g.48275866C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72667020"	"0"	""	""	"g.50198505C>T"	""	"pathogenic (dominant)"	""
"0000875013"	"0"	"90"	"17"	"48275862"	"48275862"	"dup"	"0"	"04098"	"COL1A1_000912"	"g.48275862dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198501dup"	""	"pathogenic (dominant)"	""
"0000875014"	"0"	"90"	"17"	"48275853"	"48275853"	"subst"	"0"	"04098"	"COL1A1_000999"	"g.48275853G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198492G>A"	""	"pathogenic (dominant)"	""
"0000875015"	"0"	"90"	"17"	"48275842"	"48275842"	"subst"	"0"	"04098"	"COL1A1_001308"	"g.48275842A>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198481A>T"	""	"pathogenic (dominant)"	""
"0000875016"	"0"	"90"	"17"	"48275831"	"48275831"	"del"	"0"	"04098"	"COL1A1_000655"	"g.48275831del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198470del"	""	"pathogenic (dominant)"	""
"0000875017"	"0"	"90"	"17"	"48275825"	"48275825"	"subst"	"0"	"04098"	"COL1A1_001557"	"g.48275825G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198464G>T"	""	"pathogenic (dominant)"	""
"0000875018"	"0"	"90"	"17"	"48275820"	"48275820"	"subst"	"0"	"04098"	"COL1A1_000843"	"g.48275820C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198459C>A"	""	"pathogenic (dominant)"	""
"0000875019"	"0"	"90"	"17"	"48275805"	"48275805"	"del"	"0"	"04098"	"COL1A1_000292"	"g.48275805del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72667021"	"0"	""	""	"g.50198444del"	""	"pathogenic (dominant)"	""
"0000875020"	"0"	"90"	"17"	"48275800"	"48275800"	"dup"	"0"	"04098"	"COL1A1_000835"	"g.48275800dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198439dup"	""	"pathogenic (dominant)"	""
"0000875021"	"0"	"90"	"17"	"48275793"	"48275793"	"subst"	"0"	"04098"	"COL1A1_001001"	"g.48275793C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198432C>G"	""	"pathogenic (dominant)"	""
"0000875022"	"0"	"90"	"17"	"48275793"	"48275793"	"subst"	"0"	"04098"	"COL1A1_001556"	"g.48275793C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198432C>A"	""	"pathogenic (dominant)"	""
"0000875023"	"0"	"90"	"17"	"48275792"	"48275792"	"subst"	"0"	"04098"	"COL1A1_001555"	"g.48275792A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198431A>T"	""	"pathogenic (dominant)"	""
"0000875024"	"0"	"90"	"17"	"48275792"	"48275792"	"subst"	"0"	"04098"	"COL1A1_000722"	"g.48275792A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198431A>G"	""	"pathogenic (dominant)"	""
"0000875025"	"0"	"90"	"17"	"48275786"	"48276666"	"delins"	"0"	"04098"	"COL1A1_000295"	"g.48275786_48276666delinsA"	""	""	""	""	"Large deletion, encompassing part of exon 5 and entirer exon 6. Leads to skipping of exon 5 and loss of exon 6 with inframe effect and short triple helix"	"SUMMARY record"	""	""	"0"	""	""	"g.50198425_50199305delinsA"	""	"pathogenic (dominant)"	""
"0000875026"	"0"	"90"	"17"	"48275568"	"48275568"	"subst"	"0"	"04098"	"COL1A1_000587"	"g.48275568T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198207T>C"	""	"pathogenic (dominant)"	""
"0000875027"	"0"	"90"	"17"	"48275567"	"48275567"	"subst"	"0"	"04098"	"COL1A1_000808"	"g.48275567C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198206C>A"	""	"pathogenic (dominant)"	""
"0000875028"	"0"	"90"	"17"	"48275547"	"48275547"	"subst"	"0"	"04098"	"COL1A1_000706"	"g.48275547C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50198186C>T"	""	"pathogenic (dominant)"	""
"0000875029"	"0"	"90"	"17"	"48275541"	"48275541"	"del"	"0"	"04098"	"COL1A1_001248"	"g.48275541del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875030"	"0"	"90"	"17"	"48275538"	"48275538"	"subst"	"0"	"04098"	"COL1A1_000002"	"g.48275538C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67828806"	"0"	""	""	"g.50198177C>T"	"{ClinVar17348}"	"pathogenic (dominant)"	""
"0000875031"	"0"	"90"	"17"	"48275538"	"48275538"	"subst"	"0"	"04098"	"COL1A1_000001"	"g.48275538C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67828806"	"0"	""	""	"g.50198177C>G"	"{ClinVar17334}"	"pathogenic (dominant)"	""
"0000875032"	"0"	"90"	"17"	"48275537"	"48275537"	"dup"	"0"	"04098"	"COL1A1_000657"	"g.48275537dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198176dup"	""	"pathogenic (dominant)"	""
"0000875033"	"0"	"90"	"17"	"48275536"	"48275537"	"delins"	"0"	"04098"	"COL1A1_001249"	"g.48275536_48275537delinsC"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875034"	"0"	"90"	"17"	"48275531"	"48275531"	"del"	"0"	"04098"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198170del"	""	"pathogenic (dominant)"	""
"0000875035"	"0"	"90"	"17"	"48275530"	"48275530"	"subst"	"0"	"04098"	"COL1A1_000707"	"g.48275530C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50198169C>T"	""	"pathogenic (dominant)"	""
"0000875036"	"0"	"90"	"17"	"48275530"	"48275530"	"subst"	"0"	"04098"	"COL1A1_000004"	"g.48275530C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667024"	"0"	""	""	"g.50198169C>G"	""	"pathogenic (dominant)"	""
"0000875037"	"0"	"90"	"17"	"48275529"	"48275529"	"subst"	"0"	"04098"	"COL1A1_001019"	"g.48275529C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50198168C>T"	""	"pathogenic (dominant)"	""
"0000875038"	"0"	"90"	"17"	"48275529"	"48275529"	"subst"	"0"	"04098"	"COL1A1_000667"	"g.48275529C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50198168C>G"	""	"pathogenic (dominant)"	""
"0000875039"	"0"	"90"	"17"	"48275521"	"48275521"	"subst"	"0"	"04098"	"COL1A1_001433"	"g.48275521C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198160C>T"	""	"pathogenic (dominant)"	""
"0000875040"	"0"	"90"	"17"	"48275521"	"48275521"	"subst"	"0"	"04098"	"COL1A1_001421"	"g.48275521C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198160C>A"	""	"pathogenic (dominant)"	""
"0000875041"	"0"	"90"	"17"	"48275365"	"48275365"	"subst"	"0"	"04098"	"COL1A1_000371"	"g.48275365T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72667027"	"0"	""	""	"g.50198004T>C"	""	"pathogenic (dominant)"	""
"0000875042"	"0"	"90"	"17"	"48275364"	"48275364"	"subst"	"0"	"04098"	"COL1A1_001552"	"g.48275364C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50198003C>T"	""	"pathogenic (dominant)"	""
"0000875043"	"0"	"90"	"17"	"48275363"	"48275363"	"subst"	"0"	"04098"	"COL1A1_000006"	"g.48275363C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs8179178"	"0"	""	""	"g.50198002C>T"	""	"pathogenic (dominant)"	""
"0000875044"	"0"	"90"	"17"	"48275363"	"48275363"	"subst"	"0"	"04098"	"COL1A1_000582"	"g.48275363C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50198002C>G"	""	"pathogenic (dominant)"	""
"0000875045"	"0"	"90"	"17"	"48275363"	"48275363"	"subst"	"0"	"04098"	"COL1A1_000005"	"g.48275363C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs8179178"	"0"	""	""	"g.50198002C>A"	""	"pathogenic (dominant)"	""
"0000875046"	"0"	"90"	"17"	"48275362"	"48275362"	"subst"	"0"	"04098"	"COL1A1_000007"	"g.48275362C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667028"	"0"	""	""	"g.50198001C>T"	""	"pathogenic (dominant)"	""
"0000875047"	"0"	"90"	"17"	"48275362"	"48275362"	"subst"	"0"	"04098"	"COL1A1_001003"	"g.48275362C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50198001C>G"	""	"pathogenic (dominant)"	""
"0000875048"	"0"	"90"	"17"	"48275362"	"48275362"	"subst"	"0"	"04098"	"COL1A1_001119"	"g.48275362C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875049"	"0"	"90"	"17"	"48275360"	"48275360"	"del"	"0"	"04098"	"COL1A1_001074"	"g.48275360del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197999del"	""	"pathogenic (dominant)"	""
"0000875050"	"0"	"90"	"17"	"48275354"	"48275354"	"subst"	"0"	"04098"	"COL1A1_001579"	"g.48275354C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197993C>T"	""	"pathogenic (dominant)"	""
"0000875051"	"0"	"90"	"17"	"48275353"	"48275353"	"subst"	"0"	"04098"	"COL1A1_000452"	"g.48275353C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667029"	"0"	""	""	"g.50197992C>A"	""	"pathogenic (dominant)"	""
"0000875052"	"0"	"90"	"17"	"48275345"	"48275345"	"subst"	"0"	"04098"	"COL1A1_000690"	"g.48275345C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197984C>T"	""	"pathogenic (dominant)"	""
"0000875053"	"0"	"90"	"17"	"48275345"	"48275345"	"subst"	"0"	"04098"	"COL1A1_000008"	"g.48275345C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667030"	"0"	""	""	"g.50197984C>G"	""	"pathogenic (dominant)"	""
"0000875054"	"0"	"90"	"17"	"48275345"	"48275345"	"subst"	"0"	"04098"	"COL1A1_000748"	"g.48275345C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197984C>A"	""	"pathogenic (dominant)"	""
"0000875055"	"0"	"90"	"17"	"48275344"	"48275344"	"subst"	"0"	"04098"	"COL1A1_001004"	"g.48275344C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197983C>T"	""	"pathogenic (dominant)"	""
"0000875056"	"0"	"90"	"17"	"48275344"	"48275344"	"subst"	"0"	"04098"	"COL1A1_000009"	"g.48275344C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667031"	"0"	""	""	"g.50197983C>A"	""	"pathogenic (dominant)"	""
"0000875057"	"0"	"90"	"17"	"48275342"	"48275342"	"del"	"0"	"04098"	"COL1A1_000294"	"g.48275342del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72667033"	"0"	""	""	"g.50197981del"	""	"pathogenic (dominant)"	""
"0000875058"	"0"	"90"	"17"	"48275338"	"48275338"	"dup"	"0"	"04098"	"COL1A1_001092"	"g.48275338dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875059"	"0"	"90"	"17"	"48275337"	"48275337"	"del"	"0"	"04098"	"COL1A1_001551"	"g.48275337del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197976del"	""	"pathogenic (dominant)"	""
"0000875060"	"0"	"90"	"17"	"48275336"	"48275336"	"subst"	"0"	"04098"	"COL1A1_001578"	"g.48275336C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197975C>T"	""	"pathogenic (dominant)"	""
"0000875061"	"0"	"90"	"17"	"48275335"	"48275335"	"subst"	"0"	"04098"	"COL1A1_000708"	"g.48275335C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197974C>T"	""	"pathogenic (dominant)"	""
"0000875062"	"0"	"90"	"17"	"48275326"	"48275326"	"subst"	"0"	"04098"	"COL1A1_000814"	"g.48275326C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197965C>T"	""	"pathogenic (dominant)"	""
"0000875063"	"0"	"90"	"17"	"48275322"	"48275322"	"del"	"0"	"04098"	"COL1A1_001056"	"g.48275322del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197961del"	""	"pathogenic (dominant)"	""
"0000875064"	"0"	"90"	"17"	"48275318"	"48275318"	"subst"	"0"	"04098"	"COL1A1_000011"	"g.48275318C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667034"	"0"	""	""	"g.50197957C>T"	""	"pathogenic (dominant)"	""
"0000875065"	"0"	"90"	"17"	"48275317"	"48275317"	"subst"	"0"	"04098"	"COL1A1_000691"	"g.48275317C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197956C>T"	""	"pathogenic (dominant)"	""
"0000875066"	"0"	"90"	"17"	"48275309"	"48275309"	"subst"	"0"	"04098"	"COL1A1_000216"	"g.48275309C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67364703"	"0"	""	""	"g.50197948C>T"	""	"pathogenic (dominant)"	""
"0000875067"	"0"	"90"	"17"	"48275309"	"48275309"	"subst"	"0"	"04098"	"COL1A1_001550"	"g.48275309C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197948C>G"	""	"pathogenic (dominant)"	""
"0000875068"	"0"	"90"	"17"	"48275309"	"48275309"	"subst"	"0"	"04098"	"COL1A1_001549"	"g.48275309C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197948C>A"	""	"pathogenic (dominant)"	""
"0000875069"	"0"	"90"	"17"	"48275306"	"48275306"	"del"	"0"	"04098"	"COL1A1_001299"	"g.48275306del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875070"	"0"	"90"	"17"	"48275148"	"48275148"	"subst"	"0"	"04098"	"COL1A1_000774"	"g.48275148T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197787T>C"	""	"pathogenic (dominant)"	""
"0000875071"	"0"	"90"	"17"	"48275146"	"48275146"	"subst"	"0"	"04098"	"COL1A1_000662"	"g.48275146C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197785C>T"	""	"pathogenic (dominant)"	""
"0000875072"	"0"	"90"	"17"	"48275146"	"48275146"	"subst"	"0"	"04098"	"COL1A1_000461"	"g.48275146C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197785C>G"	""	"pathogenic (dominant)"	""
"0000875073"	"0"	"90"	"17"	"48275136"	"48275136"	"subst"	"0"	"04098"	"COL1A1_000540"	"g.48275136C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197775C>T"	""	"pathogenic (dominant)"	""
"0000875074"	"0"	"90"	"17"	"48275134"	"48275134"	"del"	"0"	"04098"	"COL1A1_000648"	"g.48275134del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197773del"	""	"pathogenic (dominant)"	""
"0000875075"	"0"	"90"	"17"	"48275134"	"48275143"	"del"	"0"	"04098"	"COL1A1_000515"	"g.48275134_48275143del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197773_50197782del"	""	"pathogenic (dominant)"	""
"0000875076"	"0"	"90"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"04098"	"COL1A1_000012"	"g.48275131G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72667036"	"0"	""	""	"g.50197770G>A"	""	"pathogenic (dominant)"	""
"0000875077"	"0"	"90"	"17"	"48275128"	"48275128"	"subst"	"0"	"04098"	"COL1A1_000541"	"g.48275128C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197767C>T"	""	"pathogenic (dominant)"	""
"0000875078"	"0"	"90"	"17"	"48275128"	"48275128"	"subst"	"0"	"04098"	"COL1A1_000709"	"g.48275128C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197767C>G"	""	"pathogenic (dominant)"	""
"0000875079"	"0"	"90"	"17"	"48275128"	"48275128"	"subst"	"0"	"04098"	"COL1A1_000013"	"g.48275128C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667037"	"0"	""	""	"g.50197767C>A"	""	"pathogenic (dominant)"	""
"0000875080"	"0"	"90"	"17"	"48275127"	"48275127"	"subst"	"0"	"04098"	"COL1A1_000583"	"g.48275127C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197766C>T"	""	"pathogenic (dominant)"	""
"0000875081"	"0"	"90"	"17"	"48275127"	"48275127"	"subst"	"0"	"04098"	"COL1A1_000939"	"g.48275127C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197766C>G"	""	"pathogenic (dominant)"	""
"0000875082"	"0"	"90"	"17"	"48275127"	"48275159"	"del"	"0"	"04098"	"COL1A1_001403"	"g.48275127_48275159del"	""	""	""	""	"Multinucleotide deletion with loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197766_50197798del"	""	"pathogenic (dominant)"	""
"0000875083"	"0"	"90"	"17"	"48275120"	"48275120"	"del"	"0"	"04098"	"COL1A1_000692"	"g.48275120del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197759del"	""	"pathogenic (dominant)"	""
"0000875084"	"0"	"90"	"17"	"48275119"	"48275119"	"del"	"0"	"04098"	"COL1A1_000668"	"g.48275119del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197758del"	""	"pathogenic (dominant)"	""
"0000875085"	"0"	"90"	"17"	"48275119"	"48275119"	"subst"	"0"	"04098"	"COL1A1_001547"	"g.48275119C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197758C>T"	""	"pathogenic (dominant)"	""
"0000875086"	"0"	"90"	"17"	"48275119"	"48275119"	"subst"	"0"	"04098"	"COL1A1_000014"	"g.48275119C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72667038"	"0"	""	""	"g.50197758C>A"	""	"pathogenic (dominant)"	""
"0000875087"	"0"	"90"	"17"	"48275118"	"48275118"	"subst"	"0"	"04098"	"COL1A1_000771"	"g.48275118C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875088"	"0"	"90"	"17"	"48275116"	"48275117"	"delins"	"0"	"04098"	"COL1A1_000666"	"g.48275116_48275117delinsT"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197755_50197756delinsT"	""	"pathogenic (dominant)"	""
"0000875089"	"0"	"90"	"17"	"48275100"	"48275100"	"subst"	"0"	"04098"	"COL1A1_000837"	"g.48275100C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197739C>T"	""	"pathogenic (dominant)"	""
"0000875090"	"0"	"90"	"17"	"48275094"	"48275094"	"del"	"0"	"04098"	"COL1A1_001419"	"g.48275094del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197733del"	""	"pathogenic (dominant)"	""
"0000875091"	"0"	"90"	"17"	"48275092"	"48275092"	"subst"	"0"	"04098"	"COL1A1_000649"	"g.48275092C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197731C>T"	""	"pathogenic (dominant)"	""
"0000875092"	"0"	"90"	"17"	"48275092"	"48275092"	"subst"	"0"	"04098"	"COL1A1_001105"	"g.48275092C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875093"	"0"	"90"	"17"	"48275091"	"48275091"	"subst"	"0"	"04098"	"COL1A1_000372"	"g.48275091A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72645313"	"0"	""	""	"g.50197730A>C"	""	"pathogenic (dominant)"	""
"0000875094"	"0"	"70"	"17"	"48275090"	"48275090"	"del"	"0"	"04098"	"COL1A1_001545"	"g.48275090del"	""	""	""	""	"Loss of splice donor site predicted by 4/4 algorythms"	"SUMMARY record"	""	""	"0"	""	""	"g.50197729del"	""	"likely pathogenic (dominant)"	""
"0000875095"	"0"	"90"	"17"	"48274596"	"48274596"	"subst"	"0"	"04098"	"COL1A1_000375"	"g.48274596T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67047254"	"0"	""	""	"g.50197235T>C"	""	"pathogenic (dominant)"	""
"0000875096"	"0"	"90"	"17"	"48274596"	"48274596"	"subst"	"0"	"04098"	"COL1A1_000373"	"g.48274596T>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67047253"	"0"	""	""	"g.50197235T>A"	""	"pathogenic (dominant)"	""
"0000875097"	"0"	"90"	"17"	"48274596"	"48274596"	"del"	"0"	"04098"	"COL1A1_000374"	"g.48274596del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67047255"	"0"	""	""	"g.50197235del"	""	"pathogenic (dominant)"	""
"0000875098"	"0"	"90"	"17"	"48274595"	"48274595"	"dup"	"0"	"04098"	"COL1A1_000894"	"g.48274595dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197234dup"	""	"pathogenic (dominant)"	""
"0000875099"	"0"	"90"	"17"	"48274595"	"48274595"	"del"	"0"	"04098"	"COL1A1_000893"	"g.48274595del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197234del"	""	"pathogenic (dominant)"	""
"0000875100"	"0"	"90"	"17"	"48274595"	"48274595"	"subst"	"0"	"04098"	"COL1A1_001544"	"g.48274595C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197234C>T"	""	"pathogenic (dominant)"	""
"0000875101"	"0"	"90"	"17"	"48274595"	"48274595"	"subst"	"0"	"04098"	"COL1A1_000723"	"g.48274595C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197234C>G"	""	"pathogenic (dominant)"	""
"0000875102"	"0"	"90"	"17"	"48274595"	"48274595"	"subst"	"0"	"04098"	"COL1A1_000377"	"g.48274595C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67163049"	"0"	""	""	"g.50197234C>A"	""	"pathogenic (dominant)"	""
"0000875103"	"0"	"90"	"17"	"48274595"	"48274596"	"del"	"0"	"04098"	"COL1A1_000376"	"g.48274595_48274596del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67163050"	"0"	""	""	"g.50197234_50197235del"	""	"pathogenic (dominant)"	""
"0000875104"	"0"	"90"	"17"	"48274594"	"48274594"	"subst"	"0"	"04098"	"COL1A1_001077"	"g.48274594C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197233C>G"	""	"pathogenic (dominant)"	""
"0000875105"	"0"	"90"	"17"	"48274575"	"48274575"	"subst"	"0"	"04098"	"COL1A1_000015"	"g.48274575C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645314"	"0"	""	""	"g.50197214C>T"	""	"pathogenic (dominant)"	""
"0000875106"	"0"	"90"	"17"	"48274566"	"48274566"	"subst"	"0"	"04098"	"COL1A1_000020"	"g.48274566C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645315"	"0"	""	""	"g.50197205C>T"	""	"pathogenic (dominant)"	""
"0000875107"	"0"	"90"	"17"	"48274566"	"48274566"	"subst"	"0"	"04098"	"COL1A1_001121"	"g.48274566C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875108"	"0"	"90"	"17"	"48274557"	"48274557"	"subst"	"0"	"04098"	"COL1A1_001312"	"g.48274557C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197196C>T"	""	"pathogenic (dominant)"	""
"0000875109"	"0"	"90"	"17"	"48274549"	"48274549"	"subst"	"0"	"04098"	"COL1A1_000016"	"g.48274549C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645316"	"0"	""	""	"g.50197188C>T"	""	"pathogenic (dominant)"	""
"0000875110"	"0"	"90"	"17"	"48274548"	"48274548"	"subst"	"0"	"04098"	"COL1A1_000542"	"g.48274548C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197187C>T"	""	"pathogenic (dominant)"	""
"0000875111"	"0"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"04098"	"COL1A1_000634"	"g.48274540C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197179C>T"	""	"pathogenic (dominant)"	""
"0000875112"	"0"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"04098"	"COL1A1_001543"	"g.48274540C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197179C>G"	""	"pathogenic (dominant)"	""
"0000875113"	"0"	"90"	"17"	"48274540"	"48274540"	"subst"	"0"	"04098"	"COL1A1_000826"	"g.48274540C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197179C>A"	""	"pathogenic (dominant)"	""
"0000875114"	"0"	"90"	"17"	"48274539"	"48274539"	"subst"	"0"	"04098"	"COL1A1_001036"	"g.48274539A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197178A>T"	""	"pathogenic (dominant)"	""
"0000875115"	"0"	"90"	"17"	"48274426"	"48274426"	"subst"	"0"	"04098"	"COL1A1_001540"	"g.48274426T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197065T>C"	""	"pathogenic (dominant)"	""
"0000875116"	"0"	"90"	"17"	"48274425"	"48274425"	"subst"	"0"	"04098"	"COL1A1_001005"	"g.48274425C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197064C>G"	""	"pathogenic (dominant)"	""
"0000875117"	"0"	"90"	"17"	"48274424"	"48274424"	"subst"	"0"	"04098"	"COL1A1_000815"	"g.48274424C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197063C>G"	""	"pathogenic (dominant)"	""
"0000875118"	"0"	"90"	"17"	"48274424"	"48274424"	"subst"	"0"	"04098"	"COL1A1_000017"	"g.48274424C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645317"	"0"	""	""	"g.50197063C>A"	""	"pathogenic (dominant)"	""
"0000875119"	"0"	"90"	"17"	"48274423"	"48274423"	"subst"	"0"	"04098"	"COL1A1_000852"	"g.48274423C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197062C>T"	""	"pathogenic (dominant)"	""
"0000875120"	"0"	"90"	"17"	"48274421"	"48274428"	"del"	"0"	"04098"	"COL1A1_001006"	"g.48274421_48274428del"	""	""	""	""	"Multinucleotide deletion with loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197060_50197067del"	""	"pathogenic (dominant)"	""
"0000875121"	"0"	"90"	"17"	"48274418"	"48274418"	"subst"	"0"	"04098"	"COL1A1_000021"	"g.48274418G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72645318"	"0"	""	""	"g.50197057G>A"	""	"pathogenic (dominant)"	""
"0000875122"	"0"	"90"	"17"	"48274415"	"48274415"	"subst"	"0"	"04098"	"COL1A1_000018"	"g.48274415C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645319"	"0"	""	""	"g.50197054C>T"	""	"pathogenic (dominant)"	""
"0000875123"	"0"	"90"	"17"	"48274414"	"48274414"	"subst"	"0"	"04098"	"COL1A1_000019"	"g.48274414C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645320"	"0"	""	""	"g.50197053C>T"	""	"pathogenic (dominant)"	""
"0000875124"	"0"	"90"	"17"	"48274409"	"48274409"	"dup"	"0"	"04098"	"COL1A1_000812"	"g.48274409dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197048dup"	""	"pathogenic (dominant)"	""
"0000875125"	"0"	"90"	"17"	"48274406"	"48274406"	"subst"	"0"	"04098"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197045C>T"	""	"pathogenic (dominant)"	""
"0000875126"	"0"	"90"	"17"	"48274405"	"48274405"	"subst"	"0"	"04098"	"COL1A1_001117"	"g.48274405C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875127"	"0"	"90"	"17"	"48274400"	"48274400"	"del"	"0"	"04098"	"COL1A1_000296"	"g.48274400del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72645322"	"0"	""	""	"g.50197039del"	""	"pathogenic (dominant)"	""
"0000875128"	"0"	"90"	"17"	"48274396"	"48274396"	"subst"	"0"	"04098"	"COL1A1_000947"	"g.48274396C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197035C>T"	""	"pathogenic (dominant)"	""
"0000875129"	"0"	"90"	"17"	"48274388"	"48274388"	"subst"	"0"	"04098"	"COL1A1_000023"	"g.48274388C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645323"	"0"	""	""	"g.50197027C>T"	""	"pathogenic (dominant)"	""
"0000875130"	"0"	"90"	"17"	"48274387"	"48274387"	"subst"	"0"	"04098"	"COL1A1_000652"	"g.48274387C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197026C>T"	""	"pathogenic (dominant)"	""
"0000875131"	"0"	"90"	"17"	"48274387"	"48274387"	"subst"	"0"	"04098"	"COL1A1_000024"	"g.48274387C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645324"	"0"	""	""	"g.50197026C>A"	""	"pathogenic (dominant)"	""
"0000875132"	"0"	"90"	"17"	"48274379"	"48274379"	"subst"	"0"	"04098"	"COL1A1_000936"	"g.48274379C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197018C>T"	""	"pathogenic (dominant)"	""
"0000875133"	"0"	"90"	"17"	"48274378"	"48274378"	"subst"	"0"	"04098"	"COL1A1_000025"	"g.48274378C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645325"	"0"	""	""	"g.50197017C>T"	""	"pathogenic (dominant)"	""
"0000875134"	"0"	"90"	"17"	"48274378"	"48274378"	"subst"	"0"	"04098"	"COL1A1_001539"	"g.48274378C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50197017C>A"	""	"pathogenic (dominant)"	""
"0000875135"	"0"	"90"	"17"	"48274373"	"48274373"	"del"	"0"	"04098"	"COL1A1_000871"	"g.48274373del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197012del"	""	"pathogenic (dominant)"	""
"0000875136"	"0"	"90"	"17"	"48274370"	"48274370"	"subst"	"0"	"04098"	"COL1A1_000724"	"g.48274370C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197009C>T"	""	"pathogenic (dominant)"	""
"0000875137"	"0"	"70"	"17"	"48274369"	"48274372"	"del"	"0"	"04098"	"COL1A1_000378"	"g.48274369_48274372del"	""	""	""	""	"Loss of splice donor site predicted by 4/4 algorythms"	"SUMMARY record"	""	"rs72645326"	"0"	""	""	"g.50197008_50197011del"	""	"likely pathogenic (dominant)"	""
"0000875138"	"0"	"90"	"17"	"48274369"	"48274370"	"del"	"0"	"04098"	"COL1A1_000737"	"g.48274369_48274370del"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50197008_50197009del"	""	"pathogenic (dominant)"	""
"0000875139"	"0"	"90"	"17"	"48274031"	"48274031"	"subst"	"0"	"04098"	"COL1A1_000026"	"g.48274031C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645328"	"0"	""	""	"g.50196670C>T"	""	"pathogenic (dominant)"	""
"0000875140"	"0"	"90"	"17"	"48274030"	"48274030"	"subst"	"0"	"04098"	"COL1A1_000027"	"g.48274030C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645329"	"0"	""	""	"g.50196669C>A"	""	"pathogenic (dominant)"	""
"0000875141"	"0"	"90"	"17"	"48274029"	"48274029"	"dup"	"0"	"04098"	"COL1A1_000683"	"g.48274029dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196668dup"	""	"pathogenic (dominant)"	""
"0000875142"	"0"	"90"	"17"	"48274029"	"48274029"	"del"	"0"	"04098"	"COL1A1_000297"	"g.48274029del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72645330"	"0"	""	""	"g.50196668del"	""	"pathogenic (dominant)"	""
"0000875143"	"0"	"90"	"17"	"48274022"	"48274022"	"subst"	"0"	"04098"	"COL1A1_001149"	"g.48274022C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875144"	"0"	"90"	"17"	"48274022"	"48274022"	"subst"	"0"	"04098"	"COL1A1_000028"	"g.48274022C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645331"	"0"	""	""	"g.50196661C>A"	""	"pathogenic (dominant)"	""
"0000875145"	"0"	"90"	"17"	"48274013"	"48274013"	"subst"	"0"	"04098"	"COL1A1_000653"	"g.48274013C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196652C>T"	""	"pathogenic (dominant)"	""
"0000875146"	"0"	"90"	"17"	"48274013"	"48274013"	"subst"	"0"	"04098"	"COL1A1_000029"	"g.48274013C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645332"	"0"	""	""	"g.50196652C>G"	""	"pathogenic (dominant)"	""
"0000875147"	"0"	"90"	"17"	"48274012"	"48274012"	"subst"	"0"	"04098"	"COL1A1_000030"	"g.48274012C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645333"	"0"	""	""	"g.50196651C>T"	""	"pathogenic (dominant)"	""
"0000875148"	"0"	"90"	"17"	"48274003"	"48274003"	"subst"	"0"	"04098"	"COL1A1_000584"	"g.48274003C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196642C>T"	""	"pathogenic (dominant)"	""
"0000875149"	"0"	"90"	"17"	"48274000"	"48274000"	"dup"	"0"	"04098"	"COL1A1_000895"	"g.48274000dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196639dup"	""	"pathogenic (dominant)"	""
"0000875150"	"0"	"90"	"17"	"48273995"	"48273995"	"subst"	"0"	"04098"	"COL1A1_000031"	"g.48273995C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645334"	"0"	""	""	"g.50196634C>T"	""	"pathogenic (dominant)"	""
"0000875151"	"0"	"90"	"17"	"48273994"	"48273994"	"subst"	"0"	"04098"	"COL1A1_000032"	"g.48273994C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645335"	"0"	""	""	"g.50196633C>T"	""	"pathogenic (dominant)"	""
"0000875152"	"0"	"90"	"17"	"48273986"	"48273986"	"subst"	"0"	"04098"	"COL1A1_000033"	"g.48273986C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645336"	"0"	""	""	"g.50196625C>T"	""	"pathogenic (dominant)"	""
"0000875153"	"0"	"90"	"17"	"48273985"	"48273985"	"subst"	"0"	"04098"	"COL1A1_000034"	"g.48273985C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645337"	"0"	""	""	"g.50196624C>G"	""	"pathogenic (dominant)"	""
"0000875154"	"0"	"90"	"17"	"48273977"	"48273977"	"subst"	"0"	"04098"	"COL1A1_000381"	"g.48273977C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67569268"	"0"	""	""	"g.50196616C>T"	""	"pathogenic (dominant)"	""
"0000875155"	"0"	"90"	"17"	"48273977"	"48273977"	"subst"	"0"	"04098"	"COL1A1_000380"	"g.48273977C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67569269"	"0"	""	""	"g.50196616C>A"	""	"pathogenic (dominant)"	""
"0000875156"	"0"	"90"	"17"	"48273977"	"48273981"	"del"	"0"	"04098"	"COL1A1_000693"	"g.48273977_48273981del"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196616_50196620del"	""	"pathogenic (dominant)"	""
"0000875157"	"0"	"90"	"17"	"48273891"	"48273891"	"subst"	"0"	"04098"	"COL1A1_000383"	"g.48273891T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72645338"	"0"	""	""	"g.50196530T>G"	""	"pathogenic (dominant)"	""
"0000875158"	"0"	"90"	"17"	"48273891"	"48273891"	"subst"	"0"	"04098"	"COL1A1_000725"	"g.48273891T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196530T>C"	""	"pathogenic (dominant)"	""
"0000875159"	"0"	"90"	"17"	"48273890"	"48273890"	"subst"	"0"	"04098"	"COL1A1_000382"	"g.48273890C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72645339"	"0"	""	""	"g.50196529C>T"	""	"pathogenic (dominant)"	""
"0000875160"	"0"	"90"	"17"	"48273889"	"48273889"	"subst"	"0"	"04098"	"COL1A1_000055"	"g.48273889C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645340"	"0"	""	""	"g.50196528C>T"	""	"pathogenic (dominant)"	""
"0000875161"	"0"	"90"	"17"	"48273888"	"48273888"	"subst"	"0"	"04098"	"COL1A1_000839"	"g.48273888C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196527C>A"	""	"pathogenic (dominant)"	""
"0000875162"	"0"	"90"	"17"	"48273886"	"48273886"	"subst"	"0"	"04098"	"COL1A1_001577"	"g.48273886C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196525C>A"	""	"pathogenic (dominant)"	""
"0000875163"	"0"	"90"	"17"	"48273878"	"48273879"	"delins"	"0"	"04098"	"COL1A1_000930"	"g.48273878_48273879delinsTT"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196517_50196518delinsTT"	""	"pathogenic (dominant)"	""
"0000875164"	"0"	"90"	"17"	"48273870"	"48273870"	"subst"	"0"	"04098"	"COL1A1_000914"	"g.48273870C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196509C>T"	""	"pathogenic (dominant)"	""
"0000875165"	"0"	"90"	"17"	"48273870"	"48273870"	"subst"	"0"	"04098"	"COL1A1_000677"	"g.48273870C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196509C>A"	""	"pathogenic (dominant)"	""
"0000875166"	"0"	"90"	"17"	"48273861"	"48273861"	"subst"	"0"	"04098"	"COL1A1_001288"	"g.48273861C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196500C>A"	""	"pathogenic (dominant)"	""
"0000875167"	"0"	"90"	"17"	"48273853"	"48273853"	"subst"	"0"	"04098"	"COL1A1_000035"	"g.48273853C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645342"	"0"	""	""	"g.50196492C>G"	""	"pathogenic (dominant)"	""
"0000875168"	"0"	"90"	"17"	"48273852"	"48273852"	"subst"	"0"	"04098"	"COL1A1_000036"	"g.48273852C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196491C>T"	""	"pathogenic (dominant)"	""
"0000875169"	"0"	"90"	"17"	"48273850"	"48273850"	"subst"	"0"	"04098"	"COL1A1_001255"	"g.48273850G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196489G>A"	""	"pathogenic (dominant)"	""
"0000875170"	"0"	"90"	"17"	"48273844"	"48273844"	"subst"	"4.06128E-6"	"04098"	"COL1A1_000625"	"g.48273844C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196483C>T"	""	"pathogenic (dominant)"	""
"0000875171"	"0"	"90"	"17"	"48273743"	"48273743"	"subst"	"0"	"04098"	"COL1A1_001102"	"g.48273743A>T"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875172"	"0"	"90"	"17"	"48273722"	"48273722"	"dup"	"0"	"04098"	"COL1A1_001098"	"g.48273722dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875173"	"0"	"90"	"17"	"48273719"	"48273719"	"subst"	"0"	"04098"	"COL1A1_000037"	"g.48273719C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68062484"	"0"	""	""	"g.50196358C>T"	""	"pathogenic (dominant)"	""
"0000875174"	"0"	"90"	"17"	"48273719"	"48273719"	"subst"	"0"	"04098"	"COL1A1_000038"	"g.48273719C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68062485"	"0"	""	""	"g.50196358C>G"	""	"pathogenic (dominant)"	""
"0000875175"	"0"	"90"	"17"	"48273709"	"48273709"	"subst"	"0"	"04098"	"COL1A1_001108"	"g.48273709C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875176"	"0"	"90"	"17"	"48273701"	"48273701"	"subst"	"0"	"04098"	"COL1A1_000039"	"g.48273701C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645345"	"0"	""	""	"g.50196340C>G"	""	"pathogenic (dominant)"	""
"0000875177"	"0"	"90"	"17"	"48273700"	"48273700"	"subst"	"0"	"04098"	"COL1A1_000040"	"g.48273700C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645346"	"0"	""	""	"g.50196339C>T"	""	"pathogenic (dominant)"	""
"0000875178"	"0"	"90"	"17"	"48273700"	"48273700"	"subst"	"0"	"04098"	"COL1A1_001057"	"g.48273700C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196339C>A"	""	"pathogenic (dominant)"	""
"0000875179"	"0"	"90"	"17"	"48273692"	"48273692"	"subst"	"0"	"04098"	"COL1A1_000041"	"g.48273692C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645348"	"0"	""	""	"g.50196331C>T"	""	"pathogenic (dominant)"	""
"0000875180"	"0"	"90"	"17"	"48273684"	"48273684"	"del"	"0"	"04098"	"COL1A1_001132"	"g.48273684del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875181"	"0"	"90"	"17"	"48273683"	"48273683"	"subst"	"0"	"04098"	"COL1A1_001058"	"g.48273683C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196322C>T"	""	"pathogenic (dominant)"	""
"0000875182"	"0"	"90"	"17"	"48273681"	"48273681"	"del"	"0"	"04098"	"COL1A1_001007"	"g.48273681del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196320del"	""	"pathogenic (dominant)"	""
"0000875183"	"0"	"90"	"17"	"48273674"	"48273674"	"subst"	"0"	"04098"	"COL1A1_001536"	"g.48273674C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196313C>A"	""	"pathogenic (dominant)"	""
"0000875184"	"0"	"90"	"17"	"48273673"	"48273673"	"subst"	"0"	"04098"	"COL1A1_001434"	"g.48273673A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196312A>T"	""	"pathogenic (dominant)"	""
"0000875185"	"0"	"30"	"17"	"48273576"	"48273579"	"del"	"0"	"04098"	"COL1A1_000387"	"g.48273576_48273579del"	""	""	""	""	"Intronic; no effect on splicing predicted."	"SUMMARY record"	""	"rs72645351"	"0"	""	""	"g.50196215_50196218del"	""	"likely benign"	""
"0000875186"	"0"	"90"	"17"	"48273561"	"48273561"	"del"	"0"	"04098"	"COL1A1_000841"	"g.48273561del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196200del"	""	"pathogenic (dominant)"	""
"0000875187"	"0"	"90"	"17"	"48273561"	"48273561"	"subst"	"0"	"04098"	"COL1A1_001435"	"g.48273561C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196200C>T"	""	"pathogenic (dominant)"	""
"0000875188"	"0"	"90"	"17"	"48273559"	"48273559"	"subst"	"0"	"04098"	"COL1A1_000949"	"g.48273559C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196198C>T"	""	"pathogenic (dominant)"	""
"0000875189"	"0"	"90"	"17"	"48273559"	"48273559"	"subst"	"0"	"04098"	"COL1A1_000254"	"g.48273559C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645353"	"0"	""	""	"g.50196198C>A"	""	"pathogenic (dominant)"	""
"0000875190"	"0"	"90"	"17"	"48273551"	"48273551"	"subst"	"0"	"04098"	"COL1A1_000888"	"g.48273551C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196190C>T"	""	"pathogenic (dominant)"	""
"0000875191"	"0"	"90"	"17"	"48273551"	"48273551"	"subst"	"0"	"04098"	"COL1A1_000670"	"g.48273551C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196190C>A"	""	"pathogenic (dominant)"	""
"0000875192"	"0"	"90"	"17"	"48273550"	"48273550"	"subst"	"0"	"04098"	"COL1A1_000042"	"g.48273550C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645354"	"0"	""	""	"g.50196189C>T"	""	"pathogenic (dominant)"	""
"0000875193"	"0"	"90"	"17"	"48273542"	"48273542"	"subst"	"0"	"04098"	"COL1A1_000044"	"g.48273542C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645355"	"0"	""	""	"g.50196181C>T"	""	"pathogenic (dominant)"	""
"0000875194"	"0"	"90"	"17"	"48273542"	"48273542"	"subst"	"0"	"04098"	"COL1A1_001157"	"g.48273542C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875195"	"0"	"90"	"17"	"48273541"	"48273541"	"subst"	"0"	"04098"	"COL1A1_000045"	"g.48273541C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645356"	"0"	""	""	"g.50196180C>T"	""	"pathogenic (dominant)"	""
"0000875196"	"0"	"90"	"17"	"48273540"	"48273546"	"dup"	"0"	"04098"	"COL1A1_000878"	"g.48273540_48273546dup"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196179_50196185dup"	""	"pathogenic (dominant)"	""
"0000875197"	"0"	"90"	"17"	"48273535"	"48273536"	"dup"	"0"	"04098"	"COL1A1_000827"	"g.48273535_48273536dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196174_50196175dup"	""	"pathogenic (dominant)"	""
"0000875198"	"0"	"90"	"17"	"48273534"	"48273535"	"dup"	"0"	"04098"	"COL1A1_000577"	"g.48273534_48273535dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196173_50196174dup"	""	"pathogenic (dominant)"	""
"0000875199"	"0"	"90"	"17"	"48273530"	"48273535"	"del"	"0"	"04098"	"COL1A1_000517"	"g.48273530_48273535del"	""	""	""	""	"Deletion of two amino acids in the triple heix domain disrupts triple helix formation"	"SUMMARY record"	""	""	"0"	""	""	"g.50196169_50196174del"	""	"pathogenic (dominant)"	""
"0000875200"	"0"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"04098"	"COL1A1_000046"	"g.48273524C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645357"	"0"	""	""	"g.50196163C>T"	""	"pathogenic (dominant)"	""
"0000875201"	"0"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"04098"	"COL1A1_000828"	"g.48273524C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50196163C>G"	""	"pathogenic (dominant)"	""
"0000875202"	"0"	"90"	"17"	"48273523"	"48273523"	"subst"	"0"	"04098"	"COL1A1_000047"	"g.48273523C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645358"	"0"	""	""	"g.50196162C>G"	""	"pathogenic (dominant)"	""
"0000875203"	"0"	"90"	"17"	"48273521"	"48273521"	"dup"	"0"	"04098"	"COL1A1_000298"	"g.48273521dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196160dup"	""	"pathogenic (dominant)"	""
"0000875204"	"0"	"50"	"17"	"48273520"	"48273522"	"del"	"0"	"04098"	"COL1A1_001131"	"g.48273520_48273522del"	""	""	""	""	"Deletion of one amino acid in the signal peptide prevents export of collagen and lead to accumulation in the RER"	"SUMMARY record"	""	""	"0"	""	""	""	""	"VUS"	""
"0000875205"	"0"	"90"	"17"	"48273520"	"48273521"	"delins"	"0"	"04098"	"COL1A1_000299"	"g.48273520_48273521delinsC"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196159_50196160delinsC"	""	"pathogenic (dominant)"	""
"0000875206"	"0"	"90"	"17"	"48273519"	"48273526"	"del"	"0"	"04098"	"COL1A1_000950"	"g.48273519_48273526del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196158_50196165del"	""	"pathogenic (dominant)"	""
"0000875207"	"0"	"90"	"17"	"48273514"	"48273514"	"subst"	"0"	"04098"	"COL1A1_000859"	"g.48273514A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50196153A>G"	""	"pathogenic (dominant)"	""
"0000875208"	"0"	"90"	"17"	"48273511"	"48273511"	"del"	"0"	"04098"	"COL1A1_000951"	"g.48273511del"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms"	"SUMMARY record"	""	""	"0"	""	""	"g.50196150del"	""	"pathogenic (dominant)"	""
"0000875209"	"0"	"90"	"17"	"48273511"	"48273511"	"subst"	"0"	"04098"	"COL1A1_000756"	"g.48273511C>T"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms"	"SUMMARY record"	""	""	"0"	""	""	"g.50196150C>T"	""	"pathogenic (dominant)"	""
"0000875210"	"0"	"30"	"17"	"48273370"	"48273381"	"del"	"0"	"04098"	"COL1A1_000389"	"g.48273370_48273381del"	""	""	""	""	"Intronic; no effect on splicing predicted."	"SUMMARY record"	""	"rs72645359"	"0"	""	""	"g.50196009_50196020del"	""	"likely benign"	""
"0000875211"	"0"	"90"	"17"	"48273339"	"48273339"	"subst"	"0"	"04098"	"COL1A1_000390"	"g.48273339T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72645360"	"0"	""	""	"g.50195978T>C"	""	"pathogenic (dominant)"	""
"0000875212"	"0"	"90"	"17"	"48273338"	"48273338"	"subst"	"0"	"04098"	"COL1A1_001429"	"g.48273338C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195977C>T"	""	"pathogenic (dominant)"	""
"0000875213"	"0"	"90"	"17"	"48273338"	"48273338"	"subst"	"0"	"04098"	"COL1A1_000391"	"g.48273338C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72645361"	"0"	""	""	"g.50195977C>G"	""	"pathogenic (dominant)"	""
"0000875214"	"0"	"90"	"17"	"48273337"	"48273337"	"subst"	"0"	"04098"	"COL1A1_001148"	"g.48273337C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875215"	"0"	"90"	"17"	"48273328"	"48273328"	"subst"	"0"	"04098"	"COL1A1_000049"	"g.48273328C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66664580"	"0"	""	""	"g.50195967C>T"	""	"pathogenic (dominant)"	""
"0000875216"	"0"	"90"	"17"	"48273328"	"48273328"	"subst"	"0"	"04098"	"COL1A1_000048"	"g.48273328C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66664581"	"0"	""	""	"g.50195967C>A"	""	"pathogenic (dominant)"	""
"0000875217"	"0"	"90"	"17"	"48273326"	"48273326"	"del"	"0"	"04098"	"COL1A1_001364"	"g.48273326del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195965del"	""	"pathogenic (dominant)"	""
"0000875218"	"0"	"90"	"17"	"48273319"	"48273319"	"subst"	"0"	"04098"	"COL1A1_000915"	"g.48273319C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195958C>G"	""	"pathogenic (dominant)"	""
"0000875219"	"0"	"90"	"17"	"48273319"	"48273319"	"subst"	"0"	"04098"	"COL1A1_000545"	"g.48273319C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195958C>A"	""	"pathogenic (dominant)"	""
"0000875220"	"0"	"90"	"17"	"48273313"	"48273313"	"del"	"0"	"04098"	"COL1A1_000842"	"g.48273313del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195952del"	""	"pathogenic (dominant)"	""
"0000875221"	"0"	"90"	"17"	"48273309"	"48273309"	"subst"	"0"	"04098"	"COL1A1_000635"	"g.48273309C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195948C>T"	""	"pathogenic (dominant)"	""
"0000875222"	"0"	"90"	"17"	"48273309"	"48273309"	"subst"	"0"	"04098"	"COL1A1_000952"	"g.48273309C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195948C>A"	""	"pathogenic (dominant)"	""
"0000875223"	"0"	"90"	"17"	"48273300"	"48273300"	"subst"	"0"	"04098"	"COL1A1_001576"	"g.48273300C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195939C>T"	""	"pathogenic (dominant)"	""
"0000875224"	"0"	"50"	"17"	"48273295"	"48273295"	"subst"	"0"	"04098"	"COL1A1_000451"	"g.48273295C>A"	""	""	""	""	"Missense, not well conserved"	"SUMMARY record"	""	"rs72645362"	"0"	""	""	"g.50195934C>A"	""	"VUS"	""
"0000875225"	"0"	"90"	"17"	"48273292"	"48273292"	"subst"	"0"	"04098"	"COL1A1_000050"	"g.48273292C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645363"	"0"	""	""	"g.50195931C>G"	""	"pathogenic (dominant)"	""
"0000875226"	"0"	"90"	"17"	"48273283"	"48273283"	"subst"	"0"	"04098"	"COL1A1_000392"	"g.48273283C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195922C>T"	""	"pathogenic (dominant)"	""
"0000875227"	"0"	"90"	"17"	"48273283"	"48273287"	"del"	"0"	"04098"	"COL1A1_000776"	"g.48273283_48273287del"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A0"	"SUMMARY record"	""	""	"0"	""	""	"g.50195922_50195926del"	""	"pathogenic (dominant)"	""
"0000875228"	"0"	"90"	"17"	"48273028"	"48273028"	"subst"	"0"	"04098"	"COL1A1_000393"	"g.48273028T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs66511271"	"0"	""	""	"g.50195667T>G"	""	"pathogenic (dominant)"	""
"0000875229"	"0"	"90"	"17"	"48273028"	"48273028"	"subst"	"0"	"04098"	"COL1A1_000394"	"g.48273028T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs66511271"	"0"	""	""	"g.50195667T>C"	""	"pathogenic (dominant)"	""
"0000875230"	"0"	"90"	"17"	"48273028"	"48273028"	"subst"	"0"	"04098"	"COL1A1_001532"	"g.48273028T>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195667T>A"	""	"pathogenic (dominant)"	""
"0000875231"	"0"	"90"	"17"	"48273027"	"48273027"	"subst"	"0"	"04098"	"COL1A1_000934"	"g.48273027C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195666C>A"	""	"pathogenic (dominant)"	""
"0000875232"	"0"	"90"	"17"	"48273026"	"48273026"	"subst"	"0"	"04098"	"COL1A1_000052"	"g.48273026C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66721653"	"0"	""	""	"g.50195665C>T"	""	"pathogenic (dominant)"	""
"0000875233"	"0"	"90"	"17"	"48273026"	"48273026"	"subst"	"0"	"04098"	"COL1A1_000051"	"g.48273026C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66721654"	"0"	""	""	"g.50195665C>A"	""	"pathogenic (dominant)"	""
"0000875234"	"0"	"90"	"17"	"48273025"	"48273025"	"subst"	"0"	"04098"	"COL1A1_000473"	"g.48273025C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195664C>T"	""	"pathogenic (dominant)"	""
"0000875235"	"0"	"90"	"17"	"48273017"	"48273017"	"subst"	"0"	"04098"	"COL1A1_001120"	"g.48273017C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875236"	"0"	"90"	"17"	"48273017"	"48273017"	"subst"	"0"	"04098"	"COL1A1_000053"	"g.48273017C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645365"	"0"	""	""	"g.50195656C>A"	""	"pathogenic (dominant)"	""
"0000875237"	"0"	"90"	"17"	"48273015"	"48273019"	"del"	"0"	"04098"	"COL1A1_000772"	"g.48273015_48273019del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195654_50195658del"	""	"pathogenic (dominant)"	""
"0000875238"	"0"	"90"	"17"	"48273014"	"48273014"	"del"	"0"	"04098"	"COL1A1_001053"	"g.48273014del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195653del"	""	"pathogenic (dominant)"	""
"0000875239"	"0"	"90"	"17"	"48273011"	"48273011"	"subst"	"0"	"04098"	"COL1A1_000783"	"g.48273011G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195650G>A"	""	"pathogenic (dominant)"	""
"0000875240"	"0"	"90"	"17"	"48273008"	"48273008"	"subst"	"0"	"04098"	"COL1A1_000844"	"g.48273008C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195647C>T"	""	"pathogenic (dominant)"	""
"0000875241"	"0"	"90"	"17"	"48273002"	"48273002"	"subst"	"0"	"04098"	"COL1A1_000056"	"g.48273002G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195641G>A"	""	"pathogenic (dominant)"	""
"0000875242"	"0"	"70"	"17"	"48273001"	"48273001"	"subst"	"4.0665E-6"	"04098"	"COL1A1_001359"	"g.48273001C>T"	""	""	""	""	"Missense: highly conserved amino acid in highly conserved domain. Loss of poritive charge"	"SUMMARY record"	""	""	"0"	""	""	"g.50195640C>T"	""	"likely pathogenic (dominant)"	""
"0000875243"	"0"	"90"	"17"	"48272999"	"48272999"	"subst"	"0"	"04098"	"COL1A1_001118"	"g.48272999C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875244"	"0"	"90"	"17"	"48272999"	"48272999"	"subst"	"0"	"04098"	"COL1A1_000710"	"g.48272999C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195638C>G"	""	"pathogenic (dominant)"	""
"0000875245"	"0"	"90"	"17"	"48272990"	"48272990"	"subst"	"0"	"04098"	"COL1A1_001093"	"g.48272990C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195629C>T"	""	"pathogenic (dominant)"	""
"0000875246"	"0"	"90"	"17"	"48272989"	"48272989"	"subst"	"0"	"04098"	"COL1A1_000057"	"g.48272989C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66494876"	"0"	""	""	"g.50195628C>G"	""	"pathogenic (dominant)"	""
"0000875247"	"0"	"90"	"17"	"48272989"	"48272989"	"subst"	"0"	"04098"	"COL1A1_000054"	"g.48272989C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66494876"	"0"	""	""	"g.50195628C>A"	""	"pathogenic (dominant)"	""
"0000875248"	"0"	"90"	"17"	"48272984"	"48272984"	"subst"	"0"	"04098"	"COL1A1_000469"	"g.48272984G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195623G>A"	""	"pathogenic (dominant)"	""
"0000875249"	"0"	"90"	"17"	"48272984"	"48273000"	"del"	"0"	"04098"	"COL1A1_000867"	"g.48272984_48273000del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195623_50195639del"	""	"pathogenic (dominant)"	""
"0000875250"	"0"	"90"	"17"	"48272981"	"48272981"	"subst"	"0"	"04098"	"COL1A1_000059"	"g.48272981C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645367"	"0"	""	""	"g.50195620C>T"	""	"pathogenic (dominant)"	""
"0000875251"	"0"	"90"	"17"	"48272980"	"48272980"	"subst"	"0"	"04098"	"COL1A1_000711"	"g.48272980C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195619C>T"	""	"pathogenic (dominant)"	""
"0000875252"	"0"	"90"	"17"	"48272980"	"48272980"	"subst"	"0"	"04098"	"COL1A1_001110"	"g.48272980C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875253"	"0"	"90"	"17"	"48272980"	"48272980"	"subst"	"0"	"04098"	"COL1A1_000474"	"g.48272980C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195619C>A"	""	"pathogenic (dominant)"	""
"0000875254"	"0"	"90"	"17"	"48272972"	"48272972"	"subst"	"0"	"04098"	"COL1A1_000058"	"g.48272972C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645368"	"0"	""	""	"g.50195611C>T"	""	"pathogenic (dominant)"	""
"0000875255"	"0"	"30"	"17"	"48272970"	"48272970"	"subst"	"4.0623E-6"	"04098"	"COL1A1_001602"	"g.48272970A>G"	""	""	""	""	"Synonymous and no effect predicted on splicing"	"SUMMARY record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000875256"	"0"	"90"	"17"	"48272962"	"48272962"	"subst"	"0"	"04098"	"COL1A1_000588"	"g.48272962C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195601C>G"	""	"pathogenic (dominant)"	""
"0000875257"	"0"	"90"	"17"	"48272961"	"48272961"	"dup"	"0"	"04098"	"COL1A1_000301"	"g.48272961dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195600dup"	""	"pathogenic (dominant)"	""
"0000875258"	"0"	"90"	"17"	"48272961"	"48272961"	"del"	"0"	"04098"	"COL1A1_000300"	"g.48272961del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72645369"	"0"	""	""	"g.50195600del"	""	"pathogenic (dominant)"	""
"0000875259"	"0"	"90"	"17"	"48272955"	"48272955"	"del"	"0"	"04098"	"COL1A1_000281"	"g.48272955del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72645370"	"0"	""	""	"g.50195594del"	""	"pathogenic (dominant)"	""
"0000875260"	"0"	"90"	"17"	"48272954"	"48272954"	"subst"	"0"	"04098"	"COL1A1_000757"	"g.48272954C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195593C>T"	""	"pathogenic (dominant)"	""
"0000875261"	"0"	"90"	"17"	"48272954"	"48272955"	"ins"	"0"	"04098"	"COL1A1_000953"	"g.48272954_48272955insG"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195593_50195594insG"	""	"pathogenic (dominant)"	""
"0000875262"	"0"	"90"	"17"	"48272953"	"48272953"	"subst"	"0"	"04098"	"COL1A1_000060"	"g.48272953C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72645371"	"0"	""	""	"g.50195592C>G"	""	"pathogenic (dominant)"	""
"0000875263"	"0"	"90"	"17"	"48272945"	"48272945"	"subst"	"0"	"04098"	"COL1A1_000775"	"g.48272945C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875264"	"0"	"90"	"17"	"48272945"	"48272945"	"subst"	"0"	"04098"	"COL1A1_000061"	"g.48272945C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648313"	"0"	""	""	"g.50195584C>A"	""	"pathogenic (dominant)"	""
"0000875265"	"0"	"90"	"17"	"48272944"	"48272944"	"subst"	"0"	"04098"	"COL1A1_000062"	"g.48272944C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648314"	"0"	""	""	"g.50195583C>A"	""	"pathogenic (dominant)"	""
"0000875266"	"0"	"90"	"17"	"48272936"	"48272936"	"subst"	"0"	"04098"	"COL1A1_000064"	"g.48272936C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67182492"	"0"	""	""	"g.50195575C>T"	""	"pathogenic (dominant)"	""
"0000875267"	"0"	"90"	"17"	"48272936"	"48272936"	"subst"	"0"	"04098"	"COL1A1_000063"	"g.48272936C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67182491"	"0"	""	""	"g.50195575C>A"	""	"pathogenic (dominant)"	""
"0000875268"	"0"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"04098"	"COL1A1_000790"	"g.48272927C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195566C>T"	""	"pathogenic (dominant)"	""
"0000875269"	"0"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"04098"	"COL1A1_000395"	"g.48272927C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648315"	"0"	""	""	"g.50195566C>G"	""	"pathogenic (dominant)"	""
"0000875270"	"0"	"90"	"17"	"48272926"	"48272926"	"subst"	"0"	"04098"	"COL1A1_001227"	"g.48272926A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195565A>C"	""	"pathogenic (dominant)"	""
"0000875271"	"0"	"90"	"17"	"48272925"	"48272925"	"del"	"0"	"04098"	"COL1A1_001136"	"g.48272925del"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms; exon skipping shown in minigene assay"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875272"	"0"	"70"	"17"	"48272924"	"48272927"	"del"	"0"	"04098"	"COL1A1_000396"	"g.48272924_48272927del"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms; no published mRNA data"	"SUMMARY record"	""	"rs72648316"	"0"	""	""	"g.50195563_50195566del"	""	"likely pathogenic (dominant)"	""
"0000875273"	"0"	"70"	"17"	"48272923"	"48272923"	"subst"	"0"	"04098"	"COL1A1_001530"	"g.48272923C>G"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms; no published mRNA data"	"SUMMARY record"	""	""	"0"	""	""	"g.50195562C>G"	""	"likely pathogenic (dominant)"	""
"0000875274"	"0"	"70"	"17"	"48272921"	"48272924"	"del"	"0"	"04098"	"COL1A1_001529"	"g.48272921_48272924del"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms; no published mRNA data"	"SUMMARY record"	""	""	"0"	""	""	"g.50195560_50195563del"	""	"likely pathogenic (dominant)"	""
"0000875275"	"0"	"30"	"17"	"48272857"	"48272857"	"subst"	"5.68482E-5"	"04098"	"COL1A1_001528"	"g.48272857G>A"	""	""	""	""	"Intronic variant. No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50195496G>A"	""	"likely benign"	""
"0000875276"	"0"	"90"	"17"	"48272840"	"48272840"	"subst"	"0"	"04098"	"COL1A1_000824"	"g.48272840C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195479C>T"	""	"pathogenic (dominant)"	""
"0000875277"	"0"	"90"	"17"	"48272834"	"48272834"	"del"	"0"	"04098"	"COL1A1_000589"	"g.48272834del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195473del"	""	"pathogenic (dominant)"	""
"0000875278"	"0"	"90"	"17"	"48272830"	"48272830"	"subst"	"0"	"04098"	"COL1A1_000067"	"g.48272830C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66548637"	"0"	""	""	"g.50195469C>T"	""	"pathogenic (dominant)"	""
"0000875279"	"0"	"90"	"17"	"48272830"	"48272830"	"subst"	"0"	"04098"	"COL1A1_000065"	"g.48272830C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66548638"	"0"	""	""	"g.50195469C>G"	""	"pathogenic (dominant)"	""
"0000875280"	"0"	"90"	"17"	"48272830"	"48272830"	"subst"	"0"	"04098"	"COL1A1_000066"	"g.48272830C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66548636"	"0"	""	""	"g.50195469C>A"	""	"pathogenic (dominant)"	""
"0000875281"	"0"	"90"	"17"	"48272829"	"48272829"	"subst"	"0"	"04098"	"COL1A1_000590"	"g.48272829C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195468C>G"	""	"pathogenic (dominant)"	""
"0000875282"	"0"	"10"	"17"	"48272827"	"48272827"	"subst"	"0.00099892"	"04098"	"COL1A1_000482"	"g.48272827C>T"	""	""	""	""	"gnomAd MAF in AFR = 1.23%; carrier frequency = 2.46%; benign"	"SUMMARY record"	""	"rs116794104"	"0"	""	""	"g.50195466C>T"	""	"benign"	""
"0000875283"	"0"	"90"	"17"	"48272821"	"48272821"	"subst"	"0"	"04098"	"COL1A1_000758"	"g.48272821C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195460C>T"	""	"pathogenic (dominant)"	""
"0000875284"	"0"	"90"	"17"	"48272820"	"48272820"	"subst"	"0"	"04098"	"COL1A1_000068"	"g.48272820C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648317"	"0"	""	""	"g.50195459C>T"	""	"pathogenic (dominant)"	""
"0000875285"	"0"	"90"	"17"	"48272812"	"48272812"	"subst"	"0"	"04098"	"COL1A1_000069"	"g.48272812C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648318"	"0"	""	""	"g.50195451C>T"	""	"pathogenic (dominant)"	""
"0000875286"	"0"	"70"	"17"	"48272809"	"48272809"	"subst"	"0"	"04098"	"COL1A1_001078"	"g.48272809C>T"	""	""	""	""	"Missense  of highly conserved amino acid in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50195448C>T"	""	"likely pathogenic (dominant)"	""
"0000875287"	"0"	"90"	"17"	"48272803"	"48272803"	"subst"	"0"	"04098"	"COL1A1_001314"	"g.48272803C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195442C>T"	""	"pathogenic (dominant)"	""
"0000875288"	"0"	"90"	"17"	"48272803"	"48272803"	"subst"	"0"	"04098"	"COL1A1_000070"	"g.48272803C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648319"	"0"	""	""	"g.50195442C>A"	""	"pathogenic (dominant)"	""
"0000875289"	"0"	"90"	"17"	"48272802"	"48272802"	"subst"	"0"	"04098"	"COL1A1_000072"	"g.48272802C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66501246"	"0"	""	""	"g.50195441C>T"	""	"pathogenic (dominant)"	""
"0000875290"	"0"	"90"	"17"	"48272802"	"48272802"	"subst"	"0"	"04098"	"COL1A1_000071"	"g.48272802C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66501246"	"0"	""	""	"g.50195441C>G"	""	"pathogenic (dominant)"	""
"0000875291"	"0"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"04098"	"COL1A1_000397"	"g.48272794C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648320"	"0"	""	""	"g.50195433C>T"	""	"pathogenic (dominant)"	""
"0000875292"	"0"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"04098"	"COL1A1_000465"	"g.48272794C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195433C>G"	""	"pathogenic (dominant)"	""
"0000875293"	"0"	"90"	"17"	"48272794"	"48272794"	"subst"	"0"	"04098"	"COL1A1_001086"	"g.48272794C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875294"	"0"	"90"	"17"	"48272794"	"48272795"	"del"	"0"	"04098"	"COL1A1_000519"	"g.48272794_48272795del"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195433_50195434del"	""	"pathogenic (dominant)"	""
"0000875295"	"0"	"30"	"17"	"48272792"	"48272792"	"subst"	"4.06068E-6"	"04098"	"COL1A1_001527"	"g.48272792T>C"	""	""	""	""	"intronic; no effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50195431T>C"	""	"likely benign"	""
"0000875296"	"0"	"50"	"17"	"48272790"	"48272790"	"subst"	"2.84255E-5"	"04098"	"COL1A1_001526"	"g.48272790C>T"	""	""	""	""	"Some eefct on splicing predicted by 4 algorithms"	"SUMMARY record"	""	""	"0"	""	""	"g.50195429C>T"	""	"VUS"	""
"0000875297"	"0"	"90"	"17"	"48272692"	"48272692"	"subst"	"0"	"04098"	"COL1A1_000398"	"g.48272692C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648321"	"0"	""	""	"g.50195331C>T"	""	"pathogenic (dominant)"	""
"0000875298"	"0"	"90"	"17"	"48272691"	"48272691"	"subst"	"0"	"04098"	"COL1A1_000840"	"g.48272691C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195330C>T"	""	"pathogenic (dominant)"	""
"0000875299"	"0"	"90"	"17"	"48272691"	"48272691"	"subst"	"0"	"04098"	"COL1A1_000073"	"g.48272691C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648322"	"0"	""	""	"g.50195330C>A"	""	"pathogenic (dominant)"	""
"0000875300"	"0"	"90"	"17"	"48272691"	"48272692"	"del"	"0"	"04098"	"COL1A1_000822"	"g.48272691_48272692del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195330_50195331del"	""	"pathogenic (dominant)"	""
"0000875301"	"0"	"90"	"17"	"48272690"	"48272690"	"subst"	"0"	"04098"	"COL1A1_000074"	"g.48272690C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648323"	"0"	""	""	"g.50195329C>T"	""	"pathogenic (dominant)"	""
"0000875302"	"0"	"50"	"17"	"48272687"	"48272687"	"subst"	"0"	"04098"	"COL1A1_000636"	"g.48272687G>A"	""	""	""	""	"Missense. Highly conserved amino acid in highly conserved domain; small diference in amno acid properties"	"SUMMARY record"	""	""	"0"	""	""	"g.50195326G>A"	""	"VUS"	""
"0000875303"	"0"	"90"	"17"	"48272682"	"48272682"	"subst"	"0"	"04098"	"COL1A1_000076"	"g.48272682C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66893387"	"0"	""	""	"g.50195321C>T"	""	"pathogenic (dominant)"	""
"0000875304"	"0"	"90"	"17"	"48272682"	"48272682"	"subst"	"0"	"04098"	"COL1A1_000075"	"g.48272682C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66893386"	"0"	""	""	"g.50195321C>A"	""	"pathogenic (dominant)"	""
"0000875305"	"0"	"90"	"17"	"48272681"	"48272681"	"subst"	"0"	"04098"	"COL1A1_001525"	"g.48272681C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195320C>T"	""	"pathogenic (dominant)"	""
"0000875306"	"0"	"90"	"17"	"48272681"	"48272681"	"subst"	"0"	"04098"	"COL1A1_000592"	"g.48272681C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195320C>G"	""	"pathogenic (dominant)"	""
"0000875307"	"0"	"90"	"17"	"48272673"	"48272673"	"subst"	"0"	"04098"	"COL1A1_000077"	"g.48272673C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66761142"	"0"	""	""	"g.50195312C>T"	""	"pathogenic (dominant)"	""
"0000875308"	"0"	"90"	"17"	"48272673"	"48272673"	"subst"	"0"	"04098"	"COL1A1_000078"	"g.48272673C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66761141"	"0"	""	""	"g.50195312C>A"	""	"pathogenic (dominant)"	""
"0000875309"	"0"	"90"	"17"	"48272670"	"48272670"	"subst"	"0"	"04098"	"COL1A1_000954"	"g.48272670C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875310"	"0"	"90"	"17"	"48272669"	"48272671"	"del"	"0"	"04098"	"COL1A1_001399"	"g.48272669_48272671del"	""	""	""	""	"Deletion of one amino acid in the triple helix domain will certainly disrupt helix formation. Consequently this is considered a pathogenic variant"	"SUMMARY record"	""	""	"0"	""	""	"g.50195308_50195310del"	""	"pathogenic (dominant)"	""
"0000875311"	"0"	"90"	"17"	"48272664"	"48272664"	"subst"	"0"	"04098"	"COL1A1_000079"	"g.48272664C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648324"	"0"	""	""	"g.50195303C>T"	""	"pathogenic (dominant)"	""
"0000875312"	"0"	"30"	"17"	"48272659"	"48272659"	"subst"	"2.84678E-5"	"04098"	"COL1A1_001524"	"g.48272659G>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50195298G>A"	""	"likely benign"	""
"0000875313"	"0"	"70"	"17"	"48272657"	"48272657"	"subst"	"0"	"04098"	"COL1A1_000637"	"g.48272657G>C"	""	""	""	""	"Missense. Highly conserved amino acid in highly conserved domain; large diference in amno acid properties"	"SUMMARY record"	""	""	"0"	""	""	"g.50195296G>C"	""	"likely pathogenic (dominant)"	""
"0000875314"	"0"	"90"	"17"	"48272654"	"48272654"	"subst"	"0"	"04098"	"COL1A1_001344"	"g.48272654C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195293C>T"	""	"pathogenic (dominant)"	""
"0000875315"	"0"	"90"	"17"	"48272654"	"48272654"	"subst"	"0"	"04098"	"COL1A1_000080"	"g.48272654C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648325"	"0"	""	""	"g.50195293C>G"	""	"pathogenic (dominant)"	""
"0000875316"	"0"	"90"	"17"	"48272649"	"48272649"	"subst"	"0"	"04098"	"COL1A1_000083"	"g.48272649G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195288G>A"	""	"pathogenic (dominant)"	""
"0000875317"	"0"	"90"	"17"	"48272644"	"48272644"	"del"	"0"	"04098"	"COL1A1_001008"	"g.48272644del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195283del"	""	"pathogenic (dominant)"	""
"0000875318"	"0"	"70"	"17"	"48272643"	"48272643"	"subst"	"0.000696685"	"04098"	"COL1A1_000084"	"g.48272643G>C"	""	""	""	""	"Missense. Amino acid conserved down to chicken in highly conserved domain"	"SUMMARY record"	""	"rs72648327"	"0"	""	""	"g.50195282G>C"	""	"likely pathogenic (dominant)"	""
"0000875319"	"0"	"90"	"17"	"48272640"	"48272640"	"del"	"0"	"04098"	"COL1A1_001575"	"g.48272640del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195279del"	""	"pathogenic (dominant)"	""
"0000875320"	"0"	"90"	"17"	"48272636"	"48272636"	"subst"	"0"	"04098"	"COL1A1_000832"	"g.48272636C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195275C>T"	""	"pathogenic (dominant)"	""
"0000875321"	"0"	"90"	"17"	"48272629"	"48272629"	"del"	"0"	"04098"	"COL1A1_000938"	"g.48272629del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195268del"	""	"pathogenic (dominant)"	""
"0000875322"	"0"	"90"	"17"	"48272628"	"48272628"	"subst"	"0"	"04098"	"COL1A1_000081"	"g.48272628C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648328"	"0"	""	""	"g.50195267C>A"	""	"pathogenic (dominant)"	""
"0000875323"	"0"	"90"	"17"	"48272627"	"48272627"	"subst"	"0"	"04098"	"COL1A1_000082"	"g.48272627C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648329"	"0"	""	""	"g.50195266C>G"	""	"pathogenic (dominant)"	""
"0000875324"	"0"	"90"	"17"	"48272627"	"48272634"	"dup"	"0"	"04098"	"COL1A1_000591"	"g.48272627_48272634dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195266_50195273dup"	""	"pathogenic (dominant)"	""
"0000875325"	"0"	"90"	"17"	"48272626"	"48272626"	"del"	"0"	"04098"	"COL1A1_000861"	"g.48272626del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195265del"	""	"pathogenic (dominant)"	""
"0000875326"	"0"	"30"	"17"	"48272623"	"48272623"	"subst"	"0.000278851"	"04098"	"COL1A1_001523"	"g.48272623G>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50195262G>A"	""	"likely benign"	""
"0000875327"	"0"	"90"	"17"	"48272619"	"48272619"	"subst"	"0"	"04098"	"COL1A1_000085"	"g.48272619C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648330"	"0"	""	""	"g.50195258C>T"	""	"pathogenic (dominant)"	""
"0000875328"	"0"	"90"	"17"	"48272610"	"48272610"	"subst"	"0"	"04098"	"COL1A1_000086"	"g.48272610C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648331"	"0"	""	""	"g.50195249C>A"	""	"pathogenic (dominant)"	""
"0000875329"	"0"	"90"	"17"	"48272602"	"48272602"	"del"	"0"	"04098"	"COL1A1_000759"	"g.48272602del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195241del"	""	"pathogenic (dominant)"	""
"0000875330"	"0"	"90"	"17"	"48272602"	"48272602"	"del"	"0"	"04098"	"COL1A1_001221"	"g.48272602del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875331"	"0"	"90"	"17"	"48272600"	"48272600"	"subst"	"0"	"04098"	"COL1A1_000087"	"g.48272600C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648332"	"0"	""	""	"g.50195239C>A"	""	"pathogenic (dominant)"	""
"0000875332"	"0"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"04098"	"COL1A1_000400"	"g.48272592C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195231C>T"	""	"pathogenic (dominant)"	""
"0000875333"	"0"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"04098"	"COL1A1_000399"	"g.48272592C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs66490707"	"0"	""	""	"g.50195231C>G"	""	"pathogenic (dominant)"	""
"0000875334"	"0"	"90"	"17"	"48272592"	"48272592"	"subst"	"0"	"04098"	"COL1A1_001373"	"g.48272592C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195231C>A"	""	"pathogenic (dominant)"	""
"0000875335"	"0"	"70"	"17"	"48272588"	"48272588"	"subst"	"0"	"04098"	"COL1A1_001216"	"g.48272588C>T"	""	""	""	""	"Loss of splice donor site predicted by 4 algorythms"	"SUMMARY record"	""	""	"0"	""	""	"g.50195227C>T"	""	"likely pathogenic (dominant)"	""
"0000875336"	"0"	"30"	"17"	"48272470"	"48272470"	"subst"	"0"	"04098"	"COL1A1_001601"	"g.48272470G>C"	""	""	""	""	"Intronic variant. No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000875337"	"0"	"30"	"17"	"48272470"	"48272470"	"subst"	"8.13954E-6"	"04098"	"COL1A1_001522"	"g.48272470G>A"	""	""	""	""	"Intronic variant. No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50195109G>A"	""	"likely benign"	""
"0000875338"	"0"	"30"	"17"	"48272469"	"48272469"	"subst"	"0.0159974"	"04098"	"COL1A1_001521"	"g.48272469G>C"	""	""	""	""	"Intronic variant. No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50195108G>C"	""	"likely benign"	""
"0000875339"	"0"	"30"	"17"	"48272469"	"48272469"	"subst"	"0.00695891"	"04098"	"COL1A1_001520"	"g.48272469G>A"	""	""	""	""	"Intronic variant. No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000875340"	"0"	"90"	"17"	"48272462"	"48272462"	"subst"	"0"	"04098"	"COL1A1_001009"	"g.48272462C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195101C>T"	""	"pathogenic (dominant)"	""
"0000875341"	"0"	"90"	"17"	"48272460"	"48272460"	"subst"	"0"	"04098"	"COL1A1_000088"	"g.48272460C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648333"	"0"	""	""	"g.50195099C>A"	""	"pathogenic (dominant)"	""
"0000875342"	"0"	"90"	"17"	"48272452"	"48272452"	"del"	"0"	"04098"	"COL1A1_001010"	"g.48272452del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195091del"	""	"pathogenic (dominant)"	""
"0000875343"	"0"	"90"	"17"	"48272452"	"48272452"	"subst"	"0"	"04098"	"COL1A1_000712"	"g.48272452C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195091C>A"	""	"pathogenic (dominant)"	""
"0000875344"	"0"	"90"	"17"	"48272451"	"48272451"	"subst"	"0"	"04098"	"COL1A1_000671"	"g.48272451C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195090C>T"	""	"pathogenic (dominant)"	""
"0000875345"	"0"	"90"	"17"	"48272451"	"48272451"	"subst"	"0"	"04098"	"COL1A1_001116"	"g.48272451C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875346"	"0"	"90"	"17"	"48272446"	"48272446"	"del"	"0"	"04098"	"COL1A1_001011"	"g.48272446del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195085del"	""	"pathogenic (dominant)"	""
"0000875347"	"0"	"70"	"17"	"48272445"	"48272445"	"subst"	"0"	"04098"	"COL1A1_000760"	"g.48272445G>A"	""	""	""	""	"Missense. Amino acid conserved down to chicken in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50195084G>A"	""	"likely pathogenic (dominant)"	""
"0000875348"	"0"	"90"	"17"	"48272442"	"48272442"	"subst"	"0"	"04098"	"COL1A1_001313"	"g.48272442C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195081C>G"	""	"pathogenic (dominant)"	""
"0000875349"	"0"	"90"	"17"	"48272424"	"48272424"	"subst"	"0"	"04098"	"COL1A1_001519"	"g.48272424C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50195063C>T"	""	"pathogenic (dominant)"	""
"0000875350"	"0"	"70"	"17"	"48272411"	"48272411"	"subst"	"0"	"04098"	"COL1A1_001062"	"g.48272411C>G"	""	""	""	""	"Missense. Highly conserved amino acid in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50195050C>G"	""	"likely pathogenic (dominant)"	""
"0000875351"	"0"	"90"	"17"	"48272407"	"48272407"	"subst"	"0"	"04098"	"COL1A1_001012"	"g.48272407C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195046C>T"	""	"pathogenic (dominant)"	""
"0000875352"	"0"	"90"	"17"	"48272407"	"48272407"	"subst"	"0"	"04098"	"COL1A1_000403"	"g.48272407C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648334"	"0"	""	""	"g.50195046C>G"	""	"pathogenic (dominant)"	""
"0000875353"	"0"	"90"	"17"	"48272407"	"48272407"	"subst"	"0"	"04098"	"COL1A1_000845"	"g.48272407C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195046C>A"	""	"pathogenic (dominant)"	""
"0000875354"	"0"	"90"	"17"	"48272406"	"48272406"	"subst"	"0"	"04098"	"COL1A1_000401"	"g.48272406A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648335"	"0"	""	""	"g.50195045A>G"	""	"pathogenic (dominant)"	""
"0000875355"	"0"	"90"	"17"	"48272406"	"48272406"	"subst"	"0"	"04098"	"COL1A1_000746"	"g.48272406A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50195045A>C"	""	"pathogenic (dominant)"	""
"0000875356"	"0"	"90"	"17"	"48272403"	"48272403"	"subst"	"0"	"04098"	"COL1A1_001214"	"g.48272403C>G"	""	""	""	""	"Evidence of exon skipping exon 20"	"SUMMARY record"	""	""	"0"	""	""	"g.50195042C>G"	""	"pathogenic (dominant)"	""
"0000875357"	"0"	"70"	"17"	"48272201"	"48272201"	"subst"	"0"	"04098"	"COL1A1_000402"	"g.48272201C>T"	""	""	""	""	"intronic variant, effect on splicing indicated from mini-gene splicing assay"	"SUMMARY record"	""	""	"0"	""	""	"g.50194840C>T"	""	"likely pathogenic"	""
"0000875358"	"0"	"90"	"17"	"48272191"	"48272191"	"subst"	"0"	"04098"	"COL1A1_000755"	"g.48272191T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194830T>G"	""	"pathogenic (dominant)"	""
"0000875359"	"0"	"90"	"17"	"48272191"	"48272191"	"subst"	"0"	"04098"	"COL1A1_000405"	"g.48272191T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648338"	"0"	""	""	"g.50194830T>C"	""	"pathogenic (dominant)"	""
"0000875360"	"0"	"90"	"17"	"48272190"	"48272190"	"subst"	"0"	"04098"	"COL1A1_001210"	"g.48272190C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194829C>T"	""	"pathogenic (dominant)"	""
"0000875361"	"0"	"90"	"17"	"48272190"	"48272190"	"subst"	"0"	"04098"	"COL1A1_001211"	"g.48272190C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194829C>A"	""	"pathogenic (dominant)"	""
"0000875362"	"0"	"90"	"17"	"48272189"	"48272189"	"subst"	"0"	"04098"	"COL1A1_001398"	"g.48272189C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194828C>T"	""	"pathogenic (dominant)"	""
"0000875363"	"0"	"90"	"17"	"48272180"	"48272180"	"subst"	"0"	"04098"	"COL1A1_000255"	"g.48272180C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648339"	"0"	""	""	"g.50194819C>A"	""	"pathogenic (dominant)"	""
"0000875364"	"0"	"90"	"17"	"48272179"	"48272179"	"subst"	"0"	"04098"	"COL1A1_000475"	"g.48272179C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194818C>T"	""	"pathogenic (dominant)"	""
"0000875365"	"0"	"70"	"17"	"48272168"	"48272168"	"subst"	"5.82418E-6"	"04098"	"COL1A1_000761"	"g.48272168G>A"	""	""	""	""	"Missense. Conserved amino acid down to frog in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50194807G>A"	""	"likely pathogenic (dominant)"	""
"0000875366"	"0"	"90"	"17"	"48272168"	"48272168"	"dup"	"0"	"04098"	"COL1A1_000302"	"g.48272168dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194807dup"	""	"pathogenic (dominant)"	""
"0000875367"	"0"	"90"	"17"	"48272168"	"48272168"	"del"	"0"	"04098"	"COL1A1_000860"	"g.48272168del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194807del"	""	"pathogenic (dominant)"	""
"0000875368"	"0"	"90"	"17"	"48272163"	"48272163"	"dup"	"0"	"04098"	"COL1A1_001013"	"g.48272163dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194802dup"	""	"pathogenic (dominant)"	""
"0000875369"	"0"	"90"	"17"	"48272163"	"48272163"	"del"	"0"	"04098"	"COL1A1_000773"	"g.48272163del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194802del"	""	"pathogenic (dominant)"	""
"0000875370"	"0"	"90"	"17"	"48272162"	"48272162"	"del"	"0"	"04098"	"COL1A1_001574"	"g.48272162del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194801del"	""	"pathogenic (dominant)"	""
"0000875371"	"0"	"90"	"17"	"48272162"	"48272162"	"subst"	"0"	"04098"	"COL1A1_000089"	"g.48272162C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648340"	"0"	""	""	"g.50194801C>T"	""	"pathogenic (dominant)"	""
"0000875372"	"0"	"90"	"17"	"48272153"	"48272153"	"subst"	"0"	"04098"	"COL1A1_000090"	"g.48272153C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648341"	"0"	""	""	"g.50194792C>T"	""	"pathogenic (dominant)"	""
"0000875373"	"0"	"90"	"17"	"48272152"	"48272152"	"subst"	"0"	"04098"	"COL1A1_000091"	"g.48272152C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648342"	"0"	""	""	"g.50194791C>T"	""	"pathogenic (dominant)"	""
"0000875374"	"0"	"90"	"17"	"48272134"	"48272134"	"subst"	"0"	"04098"	"COL1A1_000694"	"g.48272134C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194773C>G"	""	"pathogenic (dominant)"	""
"0000875375"	"0"	"90"	"17"	"48272134"	"48272134"	"subst"	"0"	"04098"	"COL1A1_000476"	"g.48272134C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194773C>A"	""	"pathogenic (dominant)"	""
"0000875376"	"0"	"90"	"17"	"48272129"	"48272129"	"subst"	"0"	"04098"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72648343"	"0"	""	""	"g.50194768G>A"	""	"pathogenic (dominant)"	""
"0000875377"	"0"	"70"	"17"	"48272120"	"48272120"	"subst"	"0"	"04098"	"COL1A1_001518"	"g.48272120G>T"	""	""	""	""	"Highly conserved amino acid in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50194759G>T"	""	"likely pathogenic (dominant)"	""
"0000875378"	"0"	"90"	"17"	"48272117"	"48272117"	"subst"	"0"	"04098"	"COL1A1_000093"	"g.48272117C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs57377812"	"0"	""	""	"g.50194756C>T"	""	"pathogenic (dominant)"	""
"0000875379"	"0"	"90"	"17"	"48272117"	"48272117"	"subst"	"0"	"04098"	"COL1A1_000092"	"g.48272117C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs57377812"	"0"	""	""	"g.50194756C>G"	""	"pathogenic (dominant)"	""
"0000875380"	"0"	"90"	"17"	"48272117"	"48272117"	"subst"	"0"	"04098"	"COL1A1_001306"	"g.48272117C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194756C>A"	""	"pathogenic (dominant)"	""
"0000875381"	"0"	"90"	"17"	"48272099"	"48272099"	"subst"	"0"	"04098"	"COL1A1_000095"	"g.48272099C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648344"	"0"	""	""	"g.50194738C>T"	""	"pathogenic (dominant)"	""
"0000875382"	"0"	"90"	"17"	"48272098"	"48272098"	"subst"	"0"	"04098"	"COL1A1_000096"	"g.48272098C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648345"	"0"	""	""	"g.50194737C>G"	""	"pathogenic (dominant)"	""
"0000875383"	"0"	"90"	"17"	"48272092"	"48272092"	"del"	"0"	"04098"	"COL1A1_001107"	"g.48272092del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875384"	"0"	"90"	"17"	"48272091"	"48272091"	"del"	"0"	"04098"	"COL1A1_000303"	"g.48272091del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72648346"	"0"	""	""	"g.50194730del"	""	"pathogenic (dominant)"	""
"0000875385"	"0"	"90"	"17"	"48272081"	"48272081"	"subst"	"0"	"04098"	"COL1A1_001014"	"g.48272081C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194720C>T"	""	"pathogenic (dominant)"	""
"0000875386"	"0"	"90"	"17"	"48272081"	"48272081"	"subst"	"0"	"04098"	"COL1A1_000406"	"g.48272081C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648347"	"0"	""	""	"g.50194720C>G"	""	"pathogenic (dominant)"	""
"0000875387"	"0"	"70"	"17"	"48272077"	"48272077"	"subst"	"0"	"04098"	"COL1A1_001208"	"g.48272077C>T"	""	""	""	""	"Evidence of exon skipping exon 21"	"SUMMARY record"	""	""	"0"	""	""	"g.50194716C>T"	""	"likely pathogenic (dominant)"	""
"0000875388"	"0"	"30"	"17"	"48272069"	"48272069"	"subst"	"0.000509556"	"04098"	"COL1A1_001517"	"g.48272069C>A"	""	""	""	""	"Intronic variant. No effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000875389"	"0"	"90"	"17"	"48271990"	"48271990"	"subst"	"0"	"04098"	"COL1A1_001207"	"g.48271990G>C"	""	""	""	""	"Evidence of exon skipping exon 22"	"SUMMARY record"	""	""	"0"	""	""	"g.50194629G>C"	""	"pathogenic (dominant)"	""
"0000875390"	"0"	"90"	"17"	"48271989"	"48271989"	"subst"	"0"	"04098"	"COL1A1_001015"	"g.48271989T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194628T>C"	""	"pathogenic (dominant)"	""
"0000875391"	"0"	"90"	"17"	"48271978"	"48271978"	"subst"	"0"	"04098"	"COL1A1_000532"	"g.48271978C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194617C>T"	""	"pathogenic (dominant)"	""
"0000875392"	"0"	"90"	"17"	"48271978"	"48271978"	"subst"	"0"	"04098"	"COL1A1_000097"	"g.48271978C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648348"	"0"	""	""	"g.50194617C>A"	""	"pathogenic (dominant)"	""
"0000875393"	"0"	"90"	"17"	"48271963"	"48271964"	"del"	"0"	"04098"	"COL1A1_000304"	"g.48271963_48271964del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72648349"	"0"	""	""	"g.50194602_50194603del"	""	"pathogenic (dominant)"	""
"0000875394"	"0"	"90"	"17"	"48271951"	"48271952"	"dup"	"0"	"04098"	"COL1A1_001016"	"g.48271951_48271952dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194590_50194591dup"	""	"pathogenic (dominant)"	""
"0000875395"	"0"	"90"	"17"	"48271946"	"48271946"	"del"	"0"	"04098"	"COL1A1_001166"	"g.48271946del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875396"	"0"	"90"	"17"	"48271942"	"48271942"	"subst"	"0"	"04098"	"COL1A1_000098"	"g.48271942C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648350"	"0"	""	""	"g.50194581C>A"	""	"pathogenic (dominant)"	""
"0000875397"	"0"	"70"	"17"	"48271931"	"48271931"	"subst"	"0"	"04098"	"COL1A1_000407"	"g.48271931T>C"	""	""	""	""	"Effect on splice donor site predicted"	"SUMMARY record"	""	"rs72648351"	"0"	""	""	"g.50194570T>C"	""	"likely pathogenic (dominant)"	""
"0000875398"	"0"	"90"	"17"	"48271810"	"48271810"	"subst"	"0"	"04098"	"COL1A1_001205"	"g.48271810T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194449T>C"	""	"pathogenic (dominant)"	""
"0000875399"	"0"	"90"	"17"	"48271809"	"48271809"	"subst"	"0"	"04098"	"COL1A1_001203"	"g.48271809C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194448C>G"	""	"pathogenic (dominant)"	""
"0000875400"	"0"	"90"	"17"	"48271809"	"48271809"	"subst"	"0"	"04098"	"COL1A1_000408"	"g.48271809C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648352"	"0"	""	""	"g.50194448C>A"	""	"pathogenic (dominant)"	""
"0000875401"	"0"	"59"	"17"	"48271802"	"48271802"	"subst"	"1.21888E-5"	"04098"	"COL1A1_001264"	"g.48271802C>T"	""	""	""	""	"Not a well conserved amino acid"	"SUMMARY record"	""	"rs752150906"	"0"	""	""	""	""	"VUS"	""
"0000875402"	"0"	"90"	"17"	"48271798"	"48271798"	"subst"	"0"	"04098"	"COL1A1_000477"	"g.48271798C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194437C>A"	""	"pathogenic (dominant)"	""
"0000875403"	"0"	"30"	"17"	"48271776"	"48271776"	"subst"	"0"	"04098"	"COL1A1_000572"	"g.48271776A>G"	""	""	""	""	"Synonymous variant and no effect on splicing predicted"	"SUMMARY record"	""	"rs1007085"	"0"	""	""	"g.50194415A>G"	""	"likely benign"	""
"0000875404"	"0"	"90"	"17"	"48271762"	"48271762"	"subst"	"0"	"04098"	"COL1A1_001017"	"g.48271762C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194401C>T"	""	"pathogenic (dominant)"	""
"0000875405"	"0"	"90"	"17"	"48271751"	"48271751"	"del"	"0"	"04098"	"COL1A1_001018"	"g.48271751del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194390del"	""	"pathogenic (dominant)"	""
"0000875406"	"0"	"90"	"17"	"48271745"	"48271745"	"subst"	"0"	"04098"	"COL1A1_000099"	"g.48271745C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648353"	"0"	""	""	"g.50194384C>A"	""	"pathogenic (dominant)"	""
"0000875407"	"0"	"90"	"17"	"48271744"	"48271744"	"subst"	"0"	"04098"	"COL1A1_000593"	"g.48271744C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194383C>T"	""	"pathogenic (dominant)"	""
"0000875408"	"0"	"90"	"17"	"48271744"	"48271744"	"subst"	"0"	"04098"	"COL1A1_000100"	"g.48271744C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648354"	"0"	""	""	"g.50194383C>G"	""	"pathogenic (dominant)"	""
"0000875409"	"0"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"04098"	"COL1A1_000102"	"g.48271736C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67682642"	"0"	""	""	"g.50194375C>T"	""	"pathogenic (dominant)"	""
"0000875410"	"0"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"04098"	"COL1A1_000101"	"g.48271736C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67682641"	"0"	""	""	"g.50194375C>A"	""	"pathogenic (dominant)"	""
"0000875411"	"0"	"90"	"17"	"48271727"	"48271727"	"subst"	"0"	"04098"	"COL1A1_000197"	"g.48271727C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648355"	"0"	""	""	"g.50194366C>A"	""	"pathogenic (dominant)"	""
"0000875412"	"0"	"90"	"17"	"48271726"	"48271726"	"subst"	"0"	"04098"	"COL1A1_000107"	"g.48271726C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648356"	"0"	""	""	"g.50194365C>T"	""	"pathogenic (dominant)"	""
"0000875413"	"0"	"90"	"17"	"48271726"	"48271726"	"subst"	"0"	"04098"	"COL1A1_000762"	"g.48271726C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194365C>G"	""	"pathogenic (dominant)"	""
"0000875414"	"0"	"70"	"17"	"48271723"	"48271723"	"subst"	"0"	"04098"	"COL1A1_000880"	"g.48271723A>T"	""	""	""	""	"Highly conserved amino acid in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50194362A>T"	""	"likely pathogenic (dominant)"	""
"0000875415"	"0"	"90"	"17"	"48271718"	"48271718"	"subst"	"0"	"04098"	"COL1A1_000594"	"g.48271718C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194357C>G"	""	"pathogenic (dominant)"	""
"0000875416"	"0"	"90"	"17"	"48271716"	"48271716"	"del"	"0"	"04098"	"COL1A1_000956"	"g.48271716del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194355del"	""	"pathogenic (dominant)"	""
"0000875417"	"0"	"90"	"17"	"48271714"	"48271714"	"del"	"0"	"04098"	"COL1A1_000853"	"g.48271714del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194353del"	""	"pathogenic (dominant)"	""
"0000875418"	"0"	"90"	"17"	"48271712"	"48271712"	"del"	"0"	"04098"	"COL1A1_001079"	"g.48271712del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194351del"	""	"pathogenic (dominant)"	""
"0000875419"	"0"	"90"	"17"	"48271709"	"48271709"	"subst"	"0"	"04098"	"COL1A1_000409"	"g.48271709C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648357"	"0"	""	""	"g.50194348C>T"	""	"pathogenic (dominant)"	""
"0000875420"	"0"	"90"	"17"	"48271709"	"48271709"	"subst"	"0"	"04098"	"COL1A1_001516"	"g.48271709C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194348C>G"	""	"pathogenic (dominant)"	""
"0000875421"	"0"	"90"	"17"	"48271707"	"48271708"	"delins"	"0"	"04098"	"COL1A1_000410"	"g.48271707_48271708delinsG"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A2"	"SUMMARY record"	""	""	"0"	""	""	"g.50194346_50194347delinsG"	""	"pathogenic (dominant)"	""
"0000875422"	"0"	"90"	"17"	"48271691"	"48271722"	"del"	"0"	"04098"	"COL1A1_000879"	"g.48271691_48271722del"	""	""	""	""	"Multinucleotide deletion with loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194330_50194361del"	""	"pathogenic (dominant)"	""
"0000875423"	"0"	"10"	"17"	"48271548"	"48271548"	"subst"	"0.00222388"	"04098"	"COL1A1_000411"	"g.48271548G>T"	""	""	""	""	"highest MAF in gnomAD = 3.0% carrier freuency = 6%; benign"	"SUMMARY record"	""	"rs41316657"	"0"	""	""	"g.50194187G>T"	""	"benign"	""
"0000875424"	"0"	"90"	"17"	"48271545"	"48271545"	"subst"	"0"	"04098"	"COL1A1_000466"	"g.48271545C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194184C>G"	""	"pathogenic (dominant)"	""
"0000875425"	"0"	"90"	"17"	"48271545"	"48271545"	"subst"	"0"	"04098"	"COL1A1_000917"	"g.48271545C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194184C>A"	""	"pathogenic (dominant)"	""
"0000875426"	"0"	"90"	"17"	"48271530"	"48271530"	"del"	"0"	"04098"	"COL1A1_001160"	"g.48271530del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194169del"	""	"pathogenic (dominant)"	""
"0000875427"	"0"	"90"	"17"	"48271529"	"48271537"	"del"	"0"	"04098"	"COL1A1_000638"	"g.48271529_48271537del"	""	""	""	""	"In-frame deletion in triple helix domain will disrupt fibril formation"	"SUMMARY record"	""	""	"0"	""	""	"g.50194168_50194176del"	""	"pathogenic (dominant)"	""
"0000875428"	"0"	"90"	"17"	"48271525"	"48271525"	"subst"	"0"	"04098"	"COL1A1_001158"	"g.48271525C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194164C>T"	""	"pathogenic (dominant)"	""
"0000875429"	"0"	"90"	"17"	"48271516"	"48271516"	"subst"	"0"	"04098"	"COL1A1_000478"	"g.48271516C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194155C>G"	""	"pathogenic (dominant)"	""
"0000875430"	"0"	"90"	"17"	"48271499"	"48271499"	"del"	"0"	"04098"	"COL1A1_001417"	"g.48271499del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194138del"	""	"pathogenic (dominant)"	""
"0000875431"	"0"	"90"	"17"	"48271498"	"48271498"	"subst"	"0"	"04098"	"COL1A1_000188"	"g.48271498C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648358"	"0"	""	""	"g.50194137C>G"	""	"pathogenic (dominant)"	""
"0000875432"	"0"	"90"	"17"	"48271498"	"48271498"	"subst"	"0"	"04098"	"COL1A1_001515"	"g.48271498C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194137C>A"	""	"pathogenic (dominant)"	""
"0000875433"	"0"	"90"	"17"	"48271497"	"48271497"	"dup"	"0"	"04098"	"COL1A1_000305"	"g.48271497dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72648361"	"0"	""	""	"g.50194136dup"	""	"pathogenic (dominant)"	""
"0000875434"	"0"	"90"	"17"	"48271497"	"48271497"	"del"	"0"	"04098"	"COL1A1_000916"	"g.48271497del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194136del"	""	"pathogenic (dominant)"	""
"0000875435"	"0"	"70"	"17"	"48271495"	"48271495"	"subst"	"0"	"04098"	"COL1A1_000119"	"g.48271495G>C"	""	""	""	""	"Highly conserved amino acid in highly conserved domain"	"SUMMARY record"	""	"rs72648359"	"0"	""	""	"g.50194134G>C"	""	"likely pathogenic (dominant)"	""
"0000875436"	"0"	"90"	"17"	"48271491"	"48271491"	"del"	"0"	"04098"	"COL1A1_000306"	"g.48271491del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72648360"	"0"	""	""	"g.50194130del"	""	"pathogenic (dominant)"	""
"0000875437"	"0"	"90"	"17"	"48271490"	"48271490"	"subst"	"0"	"04098"	"COL1A1_001514"	"g.48271490C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194129C>T"	""	"pathogenic (dominant)"	""
"0000875438"	"0"	"70"	"17"	"48271487"	"48271490"	"del"	"0"	"04098"	"COL1A1_001197"	"g.48271487_48271490del"	""	""	""	""	"Loss of splice donor site predicted by 4 algorythms"	"SUMMARY record"	""	""	"0"	""	""	"g.50194126_50194129del"	""	"likely pathogenic (dominant)"	""
"0000875439"	"0"	"90"	"17"	"48271404"	"48271404"	"subst"	"0"	"04098"	"COL1A1_000413"	"g.48271404T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648362"	"0"	""	""	"g.50194043T>C"	""	"pathogenic (dominant)"	""
"0000875440"	"0"	"90"	"17"	"48271403"	"48271403"	"subst"	"0"	"04098"	"COL1A1_001370"	"g.48271403C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194042C>T"	""	"pathogenic (dominant)"	""
"0000875441"	"0"	"90"	"17"	"48271403"	"48271403"	"subst"	"0"	"04098"	"COL1A1_000684"	"g.48271403C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194042C>G"	""	"pathogenic (dominant)"	""
"0000875442"	"0"	"90"	"17"	"48271396"	"48271396"	"del"	"0"	"04098"	"COL1A1_001301"	"g.48271396del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194035del"	""	"pathogenic (dominant)"	""
"0000875443"	"0"	"90"	"17"	"48271393"	"48271393"	"subst"	"0"	"04098"	"COL1A1_000110"	"g.48271393C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67507748"	"0"	""	""	"g.50194032C>T"	""	"pathogenic (dominant)"	""
"0000875444"	"0"	"90"	"17"	"48271393"	"48271393"	"subst"	"0"	"04098"	"COL1A1_000109"	"g.48271393C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67507747"	"0"	""	""	"g.50194032C>G"	""	"pathogenic (dominant)"	""
"0000875445"	"0"	"90"	"17"	"48271393"	"48271393"	"subst"	"0"	"04098"	"COL1A1_000114"	"g.48271393C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67507749"	"0"	""	""	"g.50194032C>A"	""	"pathogenic (dominant)"	""
"0000875446"	"0"	"90"	"17"	"48271375"	"48271375"	"subst"	"0"	"04098"	"COL1A1_000121"	"g.48271375C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67416837"	"0"	""	""	"g.50194014C>T"	""	"pathogenic (dominant)"	""
"0000875447"	"0"	"90"	"17"	"48271375"	"48271375"	"subst"	"0"	"04098"	"COL1A1_000122"	"g.48271375C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67416838"	"0"	""	""	"g.50194014C>G"	""	"pathogenic (dominant)"	""
"0000875448"	"0"	"70"	"17"	"48271372"	"48271372"	"subst"	"0"	"04098"	"COL1A1_001585"	"g.48271372G>A"	""	""	""	""	"Highly conserved amino acid in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50194011G>A"	""	"likely pathogenic (dominant)"	""
"0000875449"	"0"	"90"	"17"	"48271372"	"48271372"	"del"	"0"	"04098"	"COL1A1_001361"	"g.48271372del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50194011del"	""	"pathogenic (dominant)"	""
"0000875450"	"0"	"90"	"17"	"48271366"	"48271366"	"subst"	"0"	"04098"	"COL1A1_000123"	"g.48271366C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648363"	"0"	""	""	"g.50194005C>G"	""	"pathogenic (dominant)"	""
"0000875451"	"0"	"90"	"17"	"48271365"	"48271365"	"subst"	"0"	"04098"	"COL1A1_000595"	"g.48271365C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50194004C>T"	""	"pathogenic (dominant)"	""
"0000875452"	"0"	"90"	"17"	"48271357"	"48271357"	"subst"	"0"	"04098"	"COL1A1_000576"	"g.48271357C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50193996C>G"	""	"pathogenic (dominant)"	""
"0000875453"	"0"	"90"	"17"	"48271352"	"48271353"	"ins"	"0"	"04098"	"COL1A1_000308"	"g.48271352_48271353insTG"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72648364"	"0"	""	""	"g.50193991_50193992insTG"	""	"pathogenic (dominant)"	""
"0000875454"	"0"	"90"	"17"	"48271351"	"48271351"	"subst"	"8.12361E-6"	"04098"	"COL1A1_000127"	"g.48271351G>A"	""	""	""	""	"Cysteine in the triple helix domain will disrupt triple helix"	"SUMMARY record"	""	"rs72648365"	"0"	""	""	"g.50193990G>A"	""	"pathogenic (dominant)"	""
"0000875455"	"0"	"90"	"17"	"48271345"	"48271345"	"subst"	"0"	"04098"	"COL1A1_000639"	"g.48271345G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50193984G>A"	""	"pathogenic (dominant)"	""
"0000875456"	"0"	"90"	"17"	"48271339"	"48271339"	"subst"	"0"	"04098"	"COL1A1_000663"	"g.48271339C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50193978C>T"	""	"pathogenic (dominant)"	""
"0000875457"	"0"	"90"	"17"	"48271330"	"48271330"	"subst"	"0"	"04098"	"COL1A1_000128"	"g.48271330C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648366"	"0"	""	""	"g.50193969C>T"	""	"pathogenic (dominant)"	""
"0000875458"	"0"	"90"	"17"	"48271320"	"48271320"	"subst"	"0"	"04098"	"COL1A1_001343"	"g.48271320C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50193959C>T"	""	"pathogenic (dominant)"	""
"0000875459"	"0"	"90"	"17"	"48271312"	"48271312"	"subst"	"0"	"04098"	"COL1A1_000124"	"g.48271312C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648367"	"0"	""	""	"g.50193951C>T"	""	"pathogenic (dominant)"	""
"0000875460"	"0"	"90"	"17"	"48271311"	"48271311"	"subst"	"0"	"04098"	"COL1A1_000125"	"g.48271311C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72648368"	"0"	""	""	"g.50193950C>G"	""	"pathogenic (dominant)"	""
"0000875461"	"0"	"90"	"17"	"48271306"	"48271307"	"ins"	"0"	"04098"	"COL1A1_000957"	"g.48271306_48271307insTTGACCTGTGAGC"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A0"	"SUMMARY record"	""	""	"0"	""	""	"g.50193945_50193946insTTGACCTGTGAGC"	""	"pathogenic (dominant)"	""
"0000875462"	"0"	"90"	"17"	"48271302"	"48271302"	"subst"	"0"	"04098"	"COL1A1_001196"	"g.48271302A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50193941A>G"	""	"pathogenic (dominant)"	""
"0000875463"	"0"	"90"	"17"	"48271204"	"48271852"	"del"	"0"	"04098"	"COL1A1_000365"	"g.48271204_48271852del"	""	""	""	""	"multi-exon deletion with in-frame effect. This results in a short protein that will not fit in fibrils"	"SUMMARY record"	""	"rs74315120"	"0"	""	""	"g.50193843_50194491del"	""	"pathogenic (dominant)"	""
"0000875464"	"0"	"90"	"17"	"48270409"	"48270409"	"subst"	"0"	"04098"	"COL1A1_000414"	"g.48270409C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72648370"	"0"	""	""	"g.50193048C>T"	""	"pathogenic (dominant)"	""
"0000875465"	"0"	"90"	"17"	"48270405"	"48270405"	"subst"	"0"	"04098"	"COL1A1_001114"	"g.48270405C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875466"	"0"	"90"	"17"	"48270399"	"48270399"	"subst"	"0"	"04098"	"COL1A1_000129"	"g.48270399C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66527965"	"0"	""	""	"g.50193038C>T"	""	"pathogenic (dominant)"	""
"0000875467"	"0"	"90"	"17"	"48270399"	"48270399"	"subst"	"0"	"04098"	"COL1A1_001065"	"g.48270399C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875468"	"0"	"90"	"17"	"48270399"	"48270399"	"subst"	"0"	"04098"	"COL1A1_000126"	"g.48270399C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66527965"	"0"	""	""	"g.50193038C>A"	""	"pathogenic (dominant)"	""
"0000875469"	"0"	"90"	"17"	"48270398"	"48270398"	"subst"	"0"	"04098"	"COL1A1_000130"	"g.48270398C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651613"	"0"	""	""	"g.50193037C>T"	""	"pathogenic (dominant)"	""
"0000875470"	"0"	"90"	"17"	"48270398"	"48270398"	"subst"	"0"	"04098"	"COL1A1_000596"	"g.48270398C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50193037C>A"	""	"pathogenic (dominant)"	""
"0000875471"	"0"	"90"	"17"	"48270390"	"48270390"	"del"	"0"	"04098"	"COL1A1_000958"	"g.48270390del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50193029del"	""	"pathogenic (dominant)"	""
"0000875472"	"0"	"90"	"17"	"48270389"	"48270389"	"subst"	"0"	"04098"	"COL1A1_001267"	"g.48270389C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875473"	"0"	"90"	"17"	"48270387"	"48270387"	"subst"	"0"	"04098"	"COL1A1_000575"	"g.48270387C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50193026C>A"	""	"pathogenic (dominant)"	""
"0000875474"	"0"	"90"	"17"	"48270384"	"48270384"	"subst"	"0"	"04098"	"COL1A1_000133"	"g.48270384G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72651614"	"0"	""	""	"g.50193023G>A"	""	"pathogenic (dominant)"	""
"0000875475"	"0"	"90"	"17"	"48270377"	"48270377"	"del"	"0"	"04098"	"COL1A1_001069"	"g.48270377del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50193016del"	""	"pathogenic (dominant)"	""
"0000875476"	"0"	"50"	"17"	"48270373"	"48270373"	"subst"	"0.00759064"	"04098"	"COL1A1_000502"	"g.48270373G>A"	""	""	""	""	"Synonymous variant; possible effect on exon skipping due to loss of ESEs."	"SUMMARY record"	""	""	"0"	""	""	"g.50193012G>A"	""	"VUS"	""
"0000875477"	"0"	"90"	"17"	"48270372"	"48270372"	"subst"	"0"	"04098"	"COL1A1_000134"	"g.48270372C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651615"	"0"	""	""	"g.50193011C>T"	""	"pathogenic (dominant)"	""
"0000875478"	"0"	"90"	"17"	"48270372"	"48270372"	"subst"	"0"	"04098"	"COL1A1_000927"	"g.48270372C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50193011C>A"	""	"pathogenic (dominant)"	""
"0000875479"	"0"	"90"	"17"	"48270364"	"48270364"	"del"	"0"	"04098"	"COL1A1_000782"	"g.48270364del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50193003del"	""	"pathogenic (dominant)"	""
"0000875480"	"0"	"90"	"17"	"48270363"	"48270363"	"del"	"0"	"04098"	"COL1A1_000310"	"g.48270363del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651616"	"0"	""	""	"g.50193002del"	""	"pathogenic (dominant)"	""
"0000875481"	"0"	"90"	"17"	"48270362"	"48270362"	"subst"	"0"	"04098"	"COL1A1_000479"	"g.48270362C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50193001C>T"	""	"pathogenic (dominant)"	""
"0000875482"	"0"	"90"	"17"	"48270360"	"48270360"	"del"	"0"	"04098"	"COL1A1_001302"	"g.48270360del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192999del"	""	"pathogenic (dominant)"	""
"0000875483"	"0"	"30"	"17"	"48270355"	"48270355"	"subst"	"0.00185274"	"04098"	"COL1A1_000508"	"g.48270355G>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted"	"SUMMARY record"	""	"rs41316667"	"0"	""	""	"g.50192994G>A"	""	"likely benign"	""
"0000875484"	"0"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"04098"	"COL1A1_000415"	"g.48270354C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs66555264"	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	""
"0000875485"	"0"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"04098"	"COL1A1_001195"	"g.48270354C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192993C>G"	""	"pathogenic (dominant)"	""
"0000875486"	"0"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"04098"	"COL1A1_000416"	"g.48270354C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs66555266"	"0"	""	""	"g.50192993C>A"	""	"pathogenic (dominant)"	""
"0000875487"	"0"	"70"	"17"	"48270351"	"48270354"	"del"	"0"	"04098"	"COL1A1_001020"	"g.48270351_48270354del"	""	""	""	""	"Loss of splice donor site predicted by 4 algorythms"	"SUMMARY record"	""	""	"0"	""	""	"g.50192990_50192993del"	""	"likely pathogenic (dominant)"	""
"0000875488"	"0"	"90"	"17"	"48270213"	"48270213"	"subst"	"0"	"04098"	"COL1A1_000418"	"g.48270213T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651617"	"0"	""	""	"g.50192852T>G"	""	"pathogenic (dominant)"	""
"0000875489"	"0"	"90"	"17"	"48270213"	"48270213"	"subst"	"0"	"04098"	"COL1A1_000597"	"g.48270213T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192852T>C"	""	"pathogenic (dominant)"	""
"0000875490"	"0"	"90"	"17"	"48270213"	"48270213"	"subst"	"0"	"04098"	"COL1A1_001415"	"g.48270213T>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192852T>A"	""	"pathogenic (dominant)"	""
"0000875491"	"0"	"90"	"17"	"48270213"	"48270213"	"del"	"0"	"04098"	"COL1A1_001414"	"g.48270213del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192852del"	""	"pathogenic (dominant)"	""
"0000875492"	"0"	"90"	"17"	"48270212"	"48270212"	"subst"	"0"	"04098"	"COL1A1_000849"	"g.48270212C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192851C>T"	""	"pathogenic (dominant)"	""
"0000875493"	"0"	"90"	"17"	"48270193"	"48270193"	"subst"	"0"	"04098"	"COL1A1_001163"	"g.48270193C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875494"	"0"	"90"	"17"	"48270193"	"48270193"	"subst"	"0"	"04098"	"COL1A1_000480"	"g.48270193C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50192832C>G"	""	"pathogenic (dominant)"	""
"0000875495"	"0"	"90"	"17"	"48270186"	"48270188"	"del"	"0"	"04098"	"COL1A1_000311"	"g.48270186_48270188del"	""	""	""	""	"Loss of one amino acid in a triplet of the triple helix domain. This disrupts helix fprmation"	"SUMMARY record"	""	"rs72651618"	"0"	""	""	"g.50192825_50192827del"	""	"pathogenic (dominant)"	""
"0000875496"	"0"	"90"	"17"	"48270184"	"48270184"	"subst"	"0"	"04098"	"COL1A1_000131"	"g.48270184C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651619"	"0"	""	""	"g.50192823C>T"	""	"pathogenic (dominant)"	""
"0000875497"	"0"	"90"	"17"	"48270172"	"48270172"	"del"	"0"	"04098"	"COL1A1_000312"	"g.48270172del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651620"	"0"	""	""	"g.50192811del"	""	"pathogenic (dominant)"	""
"0000875498"	"0"	"90"	"17"	"48270167"	"48270167"	"del"	"0"	"04098"	"COL1A1_000313"	"g.48270167del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651621"	"0"	""	""	"g.50192806del"	""	"pathogenic (dominant)"	""
"0000875499"	"0"	"90"	"17"	"48270157"	"48270157"	"subst"	"0"	"04098"	"COL1A1_000233"	"g.48270157C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651622"	"0"	""	""	"g.50192796C>T"	""	"pathogenic (dominant)"	""
"0000875500"	"0"	"90"	"17"	"48270157"	"48270157"	"subst"	"0"	"04098"	"COL1A1_000516"	"g.48270157C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192796C>G"	""	"pathogenic (dominant)"	""
"0000875501"	"0"	"90"	"17"	"48270056"	"48270056"	"subst"	"0"	"04098"	"COL1A1_000419"	"g.48270056T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67891210"	"0"	""	""	"g.50192695T>C"	""	"pathogenic (dominant)"	""
"0000875502"	"0"	"90"	"17"	"48270056"	"48270056"	"del"	"0"	"04098"	"COL1A1_000420"	"g.48270056del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67891211"	"0"	""	""	"g.50192695del"	""	"pathogenic (dominant)"	""
"0000875503"	"0"	"90"	"17"	"48270055"	"48270055"	"subst"	"0"	"04098"	"COL1A1_001191"	"g.48270055C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192694C>T"	""	"pathogenic (dominant)"	""
"0000875504"	"0"	"90"	"17"	"48270055"	"48270055"	"subst"	"0"	"04098"	"COL1A1_000421"	"g.48270055C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651623"	"0"	""	""	"g.50192694C>G"	""	"pathogenic (dominant)"	""
"0000875505"	"0"	"90"	"17"	"48270055"	"48270056"	"inv"	"0"	"04098"	"COL1A1_000535"	"g.48270055_48270056inv"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192694_50192695inv"	""	"pathogenic (dominant)"	""
"0000875506"	"0"	"90"	"17"	"48270054"	"48270054"	"subst"	"0"	"04098"	"COL1A1_000150"	"g.48270054C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68181175"	"0"	""	""	"g.50192693C>T"	""	"pathogenic (dominant)"	""
"0000875507"	"0"	"90"	"17"	"48270054"	"48270054"	"subst"	"0"	"04098"	"COL1A1_000132"	"g.48270054C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68181176"	"0"	""	""	"g.50192693C>A"	""	"pathogenic (dominant)"	""
"0000875508"	"0"	"90"	"17"	"48270053"	"48270053"	"subst"	"0"	"04098"	"COL1A1_001590"	"g.48270053C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50192692C>T"	""	"pathogenic (dominant)"	""
"0000875509"	"0"	"90"	"17"	"48270045"	"48270045"	"del"	"0"	"04098"	"COL1A1_000314"	"g.48270045del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs66489346"	"0"	""	""	"g.50192684del"	""	"pathogenic (dominant)"	""
"0000875510"	"0"	"90"	"17"	"48270045"	"48270045"	"subst"	"0"	"04098"	"COL1A1_000154"	"g.48270045C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66489345"	"0"	""	""	"g.50192684C>T"	""	"pathogenic (dominant)"	""
"0000875511"	"0"	"90"	"17"	"48270041"	"48270042"	"del"	"0"	"04098"	"COL1A1_000695"	"g.48270041_48270042del"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192680_50192681del"	""	"pathogenic (dominant)"	""
"0000875512"	"0"	"90"	"17"	"48270036"	"48270036"	"subst"	"0"	"04098"	"COL1A1_000430"	"g.48270036C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50192675C>T"	""	"pathogenic (dominant)"	""
"0000875513"	"0"	"90"	"17"	"48270034"	"48270035"	"del"	"0"	"04098"	"COL1A1_000779"	"g.48270034_48270035del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192673_50192674del"	""	"pathogenic (dominant)"	""
"0000875514"	"0"	"90"	"17"	"48270033"	"48270033"	"subst"	"0"	"04098"	"COL1A1_001223"	"g.48270033C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192672C>A"	""	"pathogenic (dominant)"	""
"0000875515"	"0"	"90"	"17"	"48270030"	"48270030"	"subst"	"0"	"04098"	"COL1A1_001159"	"g.48270030G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192669G>A"	""	"pathogenic (dominant)"	""
"0000875516"	"0"	"90"	"17"	"48270027"	"48270027"	"subst"	"0"	"04098"	"COL1A1_000136"	"g.48270027C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651624"	"0"	""	""	"g.50192666C>T"	""	"pathogenic (dominant)"	""
"0000875517"	"0"	"90"	"17"	"48270017"	"48270017"	"subst"	"0"	"04098"	"COL1A1_000763"	"g.48270017C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50192656C>G"	""	"pathogenic (dominant)"	""
"0000875518"	"0"	"90"	"17"	"48270017"	"48270017"	"subst"	"0"	"04098"	"COL1A1_000148"	"g.48270017C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651625"	"0"	""	""	"g.50192656C>A"	""	"pathogenic (dominant)"	""
"0000875519"	"0"	"90"	"17"	"48270014"	"48270014"	"dup"	"0"	"04098"	"COL1A1_000315"	"g.48270014dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192653dup"	""	"pathogenic (dominant)"	""
"0000875520"	"0"	"90"	"17"	"48270009"	"48270009"	"subst"	"0"	"04098"	"COL1A1_001592"	"g.48270009C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50192648C>T"	""	"pathogenic (dominant)"	""
"0000875521"	"0"	"90"	"17"	"48270008"	"48270008"	"subst"	"0"	"04098"	"COL1A1_001413"	"g.48270008C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50192647C>G"	""	"pathogenic (dominant)"	""
"0000875522"	"0"	"90"	"17"	"48270003"	"48270003"	"subst"	"0"	"04098"	"COL1A1_000598"	"g.48270003G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192642G>A"	""	"pathogenic (dominant)"	""
"0000875523"	"0"	"90"	"17"	"48270000"	"48270000"	"subst"	"0"	"04098"	"COL1A1_001189"	"g.48270000C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192639C>T"	""	"pathogenic (dominant)"	""
"0000875524"	"0"	"90"	"17"	"48270000"	"48270000"	"subst"	"0"	"04098"	"COL1A1_001190"	"g.48270000C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192639C>G"	""	"pathogenic (dominant)"	""
"0000875525"	"0"	"90"	"17"	"48269891"	"48269891"	"subst"	"0"	"04098"	"COL1A1_000468"	"g.48269891T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192530T>G"	""	"pathogenic (dominant)"	""
"0000875526"	"0"	"90"	"17"	"48269891"	"48269891"	"subst"	"0"	"04098"	"COL1A1_001022"	"g.48269891T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192530T>C"	""	"pathogenic (dominant)"	""
"0000875527"	"0"	"90"	"17"	"48269890"	"48269890"	"subst"	"0"	"04098"	"COL1A1_001186"	"g.48269890C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192529C>T"	""	"pathogenic (dominant)"	""
"0000875528"	"0"	"90"	"17"	"48269890"	"48269890"	"subst"	"0"	"04098"	"COL1A1_001187"	"g.48269890C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192529C>G"	""	"pathogenic (dominant)"	""
"0000875529"	"0"	"90"	"17"	"48269880"	"48269880"	"subst"	"0"	"04098"	"COL1A1_000170"	"g.48269880C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651627"	"0"	""	""	"g.50192519C>T"	""	"pathogenic (dominant)"	""
"0000875530"	"0"	"90"	"17"	"48269875"	"48269875"	"del"	"0"	"04098"	"COL1A1_000316"	"g.48269875del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651628"	"0"	""	""	"g.50192514del"	""	"pathogenic (dominant)"	""
"0000875531"	"0"	"90"	"17"	"48269871"	"48269871"	"subst"	"0"	"04098"	"COL1A1_000167"	"g.48269871C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651626"	"0"	""	""	"g.50192510C>G"	""	"pathogenic (dominant)"	""
"0000875532"	"0"	"90"	"17"	"48269865"	"48269865"	"del"	"0"	"04098"	"COL1A1_001366"	"g.48269865del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192504del"	""	"pathogenic (dominant)"	""
"0000875533"	"0"	"90"	"17"	"48269853"	"48269853"	"subst"	"0"	"04098"	"COL1A1_000149"	"g.48269853C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651629"	"0"	""	""	"g.50192492C>T"	""	"pathogenic (dominant)"	""
"0000875534"	"0"	"90"	"17"	"48269843"	"48269843"	"subst"	"0"	"04098"	"COL1A1_000153"	"g.48269843C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651630"	"0"	""	""	"g.50192482C>G"	""	"pathogenic (dominant)"	""
"0000875535"	"0"	"90"	"17"	"48269838"	"48269838"	"subst"	"0"	"04098"	"COL1A1_000273"	"g.48269838G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72651631"	"0"	""	""	"g.50192477G>A"	""	"pathogenic (dominant)"	""
"0000875536"	"0"	"70"	"17"	"48269836"	"48269837"	"delins"	"0"	"04098"	"COL1A1_000200"	"g.48269836_48269837delinsAA"	""	""	""	""	"Highly conserved amino acid in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50192475_50192476delinsAA"	""	"likely pathogenic (dominant)"	""
"0000875537"	"0"	"90"	"17"	"48269835"	"48269835"	"subst"	"0"	"04098"	"COL1A1_001185"	"g.48269835C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192474C>T"	""	"pathogenic (dominant)"	""
"0000875538"	"0"	"90"	"17"	"48269834"	"48269834"	"subst"	"0"	"04098"	"COL1A1_000464"	"g.48269834A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192473A>C"	""	"pathogenic (dominant)"	""
"0000875539"	"0"	"30"	"17"	"48269394"	"48269394"	"del"	"0"	"04098"	"COL1A1_000422"	"g.48269394del"	""	""	""	""	"Intronic; no effect on splicing predicted"	"SUMMARY record"	""	"rs66592375"	"0"	""	""	"g.50192033del"	""	"likely benign"	""
"0000875540"	"0"	"90"	"17"	"48269387"	"48269387"	"subst"	"0"	"04098"	"COL1A1_000424"	"g.48269387T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651632"	"0"	""	""	"g.50192026T>G"	""	"pathogenic (dominant)"	""
"0000875541"	"0"	"90"	"17"	"48269387"	"48269387"	"subst"	"0"	"04098"	"COL1A1_000554"	"g.48269387T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192026T>C"	""	"pathogenic (dominant)"	""
"0000875542"	"0"	"90"	"17"	"48269386"	"48269386"	"subst"	"0"	"04098"	"COL1A1_001183"	"g.48269386C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50192025C>T"	""	"pathogenic (dominant)"	""
"0000875543"	"0"	"90"	"17"	"48269376"	"48269376"	"del"	"0"	"04098"	"COL1A1_000317"	"g.48269376del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651633"	"0"	""	""	"g.50192015del"	""	"pathogenic (dominant)"	""
"0000875544"	"0"	"90"	"17"	"48269367"	"48269367"	"subst"	"0"	"04098"	"COL1A1_000673"	"g.48269367C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50192006C>T"	""	"pathogenic (dominant)"	""
"0000875545"	"0"	"90"	"17"	"48269359"	"48269359"	"del"	"0"	"04098"	"COL1A1_000318"	"g.48269359del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651634"	"0"	""	""	"g.50191998del"	""	"pathogenic (dominant)"	""
"0000875546"	"0"	"90"	"17"	"48269343"	"48269348"	"del"	"0"	"04098"	"COL1A1_001068"	"g.48269343_48269348del"	""	""	""	""	"Likely deletion of two amino acids in the triple helix domain. This disrupts helix formation"	"SUMMARY record"	""	""	"0"	""	""	"g.50191982_50191987del"	""	"pathogenic (dominant)"	""
"0000875547"	"0"	"90"	"17"	"48269340"	"48269340"	"subst"	"0"	"04098"	"COL1A1_000726"	"g.48269340C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191979C>T"	""	"pathogenic (dominant)"	""
"0000875548"	"0"	"90"	"17"	"48269339"	"48269339"	"subst"	"0"	"04098"	"COL1A1_000425"	"g.48269339A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651635"	"0"	""	""	"g.50191978A>C"	""	"pathogenic (dominant)"	""
"0000875549"	"0"	"90"	"17"	"48269248"	"48269248"	"subst"	"0"	"04098"	"COL1A1_001162"	"g.48269248C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191887C>T"	""	"pathogenic (dominant)"	""
"0000875550"	"0"	"90"	"17"	"48269243"	"48269244"	"del"	"0"	"04098"	"COL1A1_000640"	"g.48269243_48269244del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191882_50191883del"	""	"pathogenic (dominant)"	""
"0000875551"	"0"	"90"	"17"	"48269238"	"48269238"	"del"	"0"	"04098"	"COL1A1_001508"	"g.48269238del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191877del"	""	"pathogenic (dominant)"	""
"0000875552"	"0"	"90"	"17"	"48269229"	"48269229"	"subst"	"0"	"04098"	"COL1A1_000199"	"g.48269229C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651636"	"0"	""	""	"g.50191868C>T"	""	"pathogenic (dominant)"	""
"0000875553"	"0"	"90"	"17"	"48269229"	"48269230"	"ins"	"0"	"04098"	"COL1A1_000319"	"g.48269229_48269230insCTAGAGAG"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs74315115"	"0"	""	""	"g.50191868_50191869insCTAGAGAG"	""	"pathogenic (dominant)"	""
"0000875554"	"0"	"90"	"17"	"48269227"	"48269699"	"del"	"0"	"04098"	"COL1A1_000685"	"g.48269227_48269699del"	""	""	""	""	"Large deletion, encompassing exon 30 and part of exon 31. Most likely effect is loss of exon 30 and 31, leading to inframe deletion: p.(Gly662-Lys709del)"	"SUMMARY record"	""	""	"0"	""	""	"g.50191866_50192338del"	""	"pathogenic (dominant)"	""
"0000875555"	"0"	"90"	"17"	"48269219"	"48269219"	"subst"	"0"	"04098"	"COL1A1_000533"	"g.48269219C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191858C>G"	""	"pathogenic (dominant)"	""
"0000875556"	"0"	"90"	"17"	"48269219"	"48269219"	"subst"	"0"	"04098"	"COL1A1_000103"	"g.48269219C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651637"	"0"	""	""	"g.50191858C>A"	""	"pathogenic (dominant)"	""
"0000875557"	"0"	"90"	"17"	"48269211"	"48269211"	"subst"	"0"	"04098"	"COL1A1_000163"	"g.48269211C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651638"	"0"	""	""	"g.50191850C>T"	""	"pathogenic (dominant)"	""
"0000875558"	"0"	"90"	"17"	"48269210"	"48269210"	"subst"	"0"	"04098"	"COL1A1_000830"	"g.48269210C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191849C>T"	""	"pathogenic (dominant)"	""
"0000875559"	"0"	"90"	"17"	"48269208"	"48269208"	"del"	"0"	"04098"	"COL1A1_000320"	"g.48269208del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651639"	"0"	""	""	"g.50191847del"	""	"pathogenic (dominant)"	""
"0000875560"	"0"	"90"	"17"	"48269203"	"48269203"	"del"	"4.41127E-6"	"04098"	"COL1A1_000309"	"g.48269203del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651640"	"0"	""	""	"g.50191842del"	""	"pathogenic (dominant)"	""
"0000875561"	"0"	"90"	"17"	"48269201"	"48269201"	"subst"	"0"	"04098"	"COL1A1_000865"	"g.48269201C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191840C>G"	""	"pathogenic (dominant)"	""
"0000875562"	"0"	"90"	"17"	"48269193"	"48269193"	"del"	"0"	"04098"	"COL1A1_000283"	"g.48269193del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651641"	"0"	""	""	"g.50191832del"	""	"pathogenic (dominant)"	""
"0000875563"	"0"	"90"	"17"	"48269193"	"48269193"	"subst"	"0"	"04098"	"COL1A1_000831"	"g.48269193C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191832C>T"	""	"pathogenic (dominant)"	""
"0000875564"	"0"	"90"	"17"	"48269187"	"48269187"	"subst"	"0"	"04098"	"COL1A1_000198"	"g.48269187G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72651642"	"0"	""	""	"g.50191826G>A"	""	"pathogenic (dominant)"	""
"0000875565"	"0"	"90"	"17"	"48269185"	"48269186"	"del"	"0"	"04098"	"COL1A1_000869"	"g.48269185_48269186del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191824_50191825del"	""	"pathogenic (dominant)"	""
"0000875566"	"0"	"90"	"17"	"48269180"	"48269180"	"del"	"0"	"04098"	"COL1A1_000321"	"g.48269180del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651643"	"0"	""	""	"g.50191819del"	""	"pathogenic (dominant)"	""
"0000875567"	"0"	"90"	"17"	"48269176"	"48269190"	"delins"	"0"	"04098"	"COL1A1_000550"	"g.48269176_48269190delinsATGGGGACCTTGCAGC"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191815_50191829delinsATGGGGACCTTGCAGC"	""	"pathogenic (dominant)"	""
"0000875568"	"0"	"90"	"17"	"48269175"	"48269175"	"subst"	"0"	"04098"	"COL1A1_000104"	"g.48269175C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68114506"	"0"	""	""	"g.50191814C>T"	""	"pathogenic (dominant)"	""
"0000875569"	"0"	"90"	"17"	"48269175"	"48269175"	"subst"	"0"	"04098"	"COL1A1_000187"	"g.48269175C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68114505"	"0"	""	""	"g.50191814C>A"	""	"pathogenic (dominant)"	""
"0000875570"	"0"	"90"	"17"	"48269174"	"48269174"	"subst"	"0"	"04098"	"COL1A1_001507"	"g.48269174C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191813C>A"	""	"pathogenic (dominant)"	""
"0000875571"	"0"	"90"	"17"	"48269166"	"48269166"	"subst"	"0"	"04098"	"COL1A1_000106"	"g.48269166C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67368147"	"0"	""	""	"g.50191805C>T"	""	"pathogenic (dominant)"	""
"0000875572"	"0"	"90"	"17"	"48269166"	"48269166"	"subst"	"0"	"04098"	"COL1A1_000105"	"g.48269166C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67368148"	"0"	""	""	"g.50191805C>A"	""	"pathogenic (dominant)"	""
"0000875573"	"0"	"10"	"17"	"48269161"	"48269161"	"subst"	"0.000649773"	"04098"	"COL1A1_000503"	"g.48269161G>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted; highest MAF (AMR)=0.58%"	"SUMMARY record"	""	"rs41316673"	"0"	""	""	"g.50191800G>A"	""	"benign"	""
"0000875574"	"0"	"90"	"17"	"48269157"	"48269157"	"del"	"0"	"04098"	"COL1A1_000599"	"g.48269157del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191796del"	""	"pathogenic (dominant)"	""
"0000875575"	"0"	"90"	"17"	"48269148"	"48269148"	"subst"	"0"	"04098"	"COL1A1_001181"	"g.48269148C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191787C>T"	""	"pathogenic (dominant)"	""
"0000875576"	"0"	"90"	"17"	"48269148"	"48269148"	"subst"	"0"	"04098"	"COL1A1_001111"	"g.48269148C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875577"	"0"	"90"	"17"	"48269147"	"48269147"	"subst"	"0"	"04098"	"COL1A1_000777"	"g.48269147A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191786A>T"	""	"pathogenic (dominant)"	""
"0000875578"	"0"	"90"	"17"	"48269147"	"48269147"	"subst"	"0"	"04098"	"COL1A1_000426"	"g.48269147A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651644"	"0"	""	""	"g.50191786A>C"	""	"pathogenic (dominant)"	""
"0000875579"	"0"	"90"	"17"	"48268852"	"48268852"	"subst"	"0"	"04098"	"COL1A1_000427"	"g.48268852C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67543898"	"0"	""	""	"g.50191491C>T"	""	"pathogenic (dominant)"	""
"0000875580"	"0"	"90"	"17"	"48268852"	"48268852"	"subst"	"0"	"04098"	"COL1A1_000428"	"g.48268852C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67543897"	"0"	""	""	"g.50191491C>G"	""	"pathogenic (dominant)"	""
"0000875581"	"0"	"90"	"17"	"48268842"	"48268842"	"subst"	"0"	"04098"	"COL1A1_000713"	"g.48268842C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191481C>T"	""	"pathogenic (dominant)"	""
"0000875582"	"0"	"90"	"17"	"48268838"	"48268838"	"dup"	"0"	"04098"	"COL1A1_000601"	"g.48268838dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191477dup"	""	"pathogenic (dominant)"	""
"0000875583"	"0"	"90"	"17"	"48268834"	"48268834"	"del"	"0"	"04098"	"COL1A1_001113"	"g.48268834del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875584"	"0"	"90"	"17"	"48268824"	"48268824"	"subst"	"0"	"04098"	"COL1A1_000108"	"g.48268824C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651645"	"0"	""	""	"g.50191463C>T"	""	"pathogenic (dominant)"	""
"0000875585"	"0"	"90"	"17"	"48268823"	"48268823"	"subst"	"0"	"04098"	"COL1A1_000189"	"g.48268823C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651646"	"0"	""	""	"g.50191462C>T"	""	"pathogenic (dominant)"	""
"0000875586"	"0"	"90"	"17"	"48268815"	"48268815"	"subst"	"0"	"04098"	"COL1A1_000223"	"g.48268815C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651647"	"0"	""	""	"g.50191454C>T"	""	"pathogenic (dominant)"	""
"0000875587"	"0"	"90"	"17"	"48268814"	"48268814"	"subst"	"0"	"04098"	"COL1A1_001292"	"g.48268814C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875588"	"0"	"90"	"17"	"48268807"	"48268807"	"del"	"0"	"04098"	"COL1A1_001375"	"g.48268807del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191446del"	""	"pathogenic (dominant)"	""
"0000875589"	"0"	"90"	"17"	"48268806"	"48268806"	"subst"	"0"	"04098"	"COL1A1_001340"	"g.48268806C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191445C>T"	""	"pathogenic (dominant)"	""
"0000875590"	"0"	"10"	"17"	"48268804"	"48268804"	"subst"	"0.00267225"	"04098"	"COL1A1_000504"	"g.48268804G>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted. Highest MAF (AFR)=4.24%"	"SUMMARY record"	""	"rs35017779"	"0"	""	""	"g.50191443G>A"	""	"benign"	""
"0000875591"	"0"	"90"	"17"	"48268800"	"48268800"	"subst"	"0"	"04098"	"COL1A1_001307"	"g.48268800G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191439G>A"	""	"pathogenic (dominant)"	""
"0000875592"	"0"	"90"	"17"	"48268797"	"48268797"	"subst"	"0"	"04098"	"COL1A1_000112"	"g.48268797C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651648"	"0"	""	""	"g.50191436C>T"	""	"pathogenic (dominant)"	""
"0000875593"	"0"	"90"	"17"	"48268796"	"48268796"	"subst"	"0"	"04098"	"COL1A1_001270"	"g.48268796C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875594"	"0"	"90"	"17"	"48268787"	"48268787"	"subst"	"0"	"04098"	"COL1A1_000887"	"g.48268787C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191426C>G"	""	"pathogenic (dominant)"	""
"0000875595"	"0"	"90"	"17"	"48268787"	"48268787"	"subst"	"0"	"04098"	"COL1A1_000674"	"g.48268787C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191426C>A"	""	"pathogenic (dominant)"	""
"0000875596"	"0"	"90"	"17"	"48268784"	"48268784"	"del"	"0"	"04098"	"COL1A1_001317"	"g.48268784del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191423del"	""	"pathogenic (dominant)"	""
"0000875597"	"0"	"90"	"17"	"48268778"	"48268778"	"subst"	"0"	"04098"	"COL1A1_000764"	"g.48268778C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191417C>G"	""	"pathogenic (dominant)"	""
"0000875598"	"0"	"90"	"17"	"48268778"	"48268778"	"subst"	"0"	"04098"	"COL1A1_000224"	"g.48268778C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651649"	"0"	""	""	"g.50191417C>A"	""	"pathogenic (dominant)"	""
"0000875599"	"0"	"90"	"17"	"48268770"	"48268770"	"subst"	"0"	"04098"	"COL1A1_000113"	"g.48268770C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651650"	"0"	""	""	"g.50191409C>A"	""	"pathogenic (dominant)"	""
"0000875600"	"0"	"90"	"17"	"48268769"	"48268769"	"subst"	"0"	"04098"	"COL1A1_000115"	"g.48268769C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651651"	"0"	""	""	"g.50191408C>T"	""	"pathogenic (dominant)"	""
"0000875601"	"0"	"90"	"17"	"48268764"	"48268764"	"del"	"0"	"04098"	"COL1A1_000669"	"g.48268764del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191403del"	""	"pathogenic (dominant)"	""
"0000875602"	"0"	"90"	"17"	"48268761"	"48268761"	"subst"	"0"	"04098"	"COL1A1_000481"	"g.48268761C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191400C>G"	""	"pathogenic (dominant)"	""
"0000875603"	"0"	"90"	"17"	"48268752"	"48268752"	"subst"	"0"	"04098"	"COL1A1_000225"	"g.48268752C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651652"	"0"	""	""	"g.50191391C>T"	""	"pathogenic (dominant)"	""
"0000875604"	"0"	"90"	"17"	"48268751"	"48268751"	"subst"	"0"	"04098"	"COL1A1_000675"	"g.48268751C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50191390C>T"	""	"pathogenic (dominant)"	""
"0000875605"	"0"	"90"	"17"	"48268751"	"48268751"	"subst"	"0"	"04098"	"COL1A1_000226"	"g.48268751C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651653"	"0"	""	""	"g.50191390C>A"	""	"pathogenic (dominant)"	""
"0000875606"	"0"	"90"	"17"	"48268745"	"48268746"	"del"	"0"	"04098"	"COL1A1_000547"	"g.48268745_48268746del"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191384_50191385del"	""	"pathogenic (dominant)"	""
"0000875607"	"0"	"90"	"17"	"48268743"	"48268743"	"subst"	"0"	"04098"	"COL1A1_000467"	"g.48268743C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50191382C>T"	""	"pathogenic (dominant)"	""
"0000875608"	"0"	"90"	"17"	"48268287"	"48268287"	"subst"	"0"	"04098"	"COL1A1_001059"	"g.48268287T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190926T>C"	""	"pathogenic (dominant)"	""
"0000875609"	"0"	"90"	"17"	"48268286"	"48268286"	"subst"	"0"	"04098"	"COL1A1_000986"	"g.48268286C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190925C>T"	""	"pathogenic (dominant)"	""
"0000875610"	"0"	"90"	"17"	"48268276"	"48268276"	"subst"	"0"	"04098"	"COL1A1_000529"	"g.48268276C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190915C>T"	""	"pathogenic (dominant)"	""
"0000875611"	"0"	"90"	"17"	"48268273"	"48268273"	"del"	"0"	"04098"	"COL1A1_001411"	"g.48268273del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190912del"	""	"pathogenic (dominant)"	""
"0000875612"	"0"	"90"	"17"	"48268258"	"48268258"	"subst"	"0"	"04098"	"COL1A1_000116"	"g.48268258C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651654"	"0"	""	""	"g.50190897C>T"	""	"pathogenic (dominant)"	""
"0000875613"	"0"	"90"	"17"	"48268255"	"48268256"	"dup"	"0"	"04098"	"COL1A1_000658"	"g.48268255_48268256dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190894_50190895dup"	""	"pathogenic (dominant)"	""
"0000875614"	"0"	"90"	"17"	"48268255"	"48268256"	"del"	"0"	"04098"	"COL1A1_000429"	"g.48268255_48268256del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651655"	"0"	""	""	"g.50190894_50190895del"	""	"pathogenic (dominant)"	""
"0000875615"	"0"	"90"	"17"	"48268252"	"48268252"	"del"	"0"	"04098"	"COL1A1_001025"	"g.48268252del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190891del"	""	"pathogenic (dominant)"	""
"0000875616"	"0"	"90"	"17"	"48268249"	"48268249"	"subst"	"0"	"04098"	"COL1A1_000620"	"g.48268249C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190888C>T"	""	"pathogenic (dominant)"	""
"0000875617"	"0"	"90"	"17"	"48268249"	"48268249"	"subst"	"0"	"04098"	"COL1A1_000117"	"g.48268249C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651656"	"0"	""	""	"g.50190888C>A"	""	"pathogenic (dominant)"	""
"0000875618"	"0"	"90"	"17"	"48268248"	"48268332"	"del"	"0"	"04098"	"COL1A1_000810"	"g.48268248_48268332del"	""	""	""	""	"Deletion with loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190887_50190971del"	""	"pathogenic (dominant)"	""
"0000875619"	"0"	"90"	"17"	"48268240"	"48268240"	"subst"	"0"	"04098"	"COL1A1_001060"	"g.48268240C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190879C>T"	""	"pathogenic (dominant)"	""
"0000875620"	"0"	"90"	"17"	"48268239"	"48268239"	"subst"	"0"	"04098"	"COL1A1_000618"	"g.48268239C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190878C>T"	""	"pathogenic (dominant)"	""
"0000875621"	"0"	"90"	"17"	"48268231"	"48268231"	"subst"	"0"	"04098"	"COL1A1_000676"	"g.48268231C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190870C>T"	""	"pathogenic (dominant)"	""
"0000875622"	"0"	"90"	"17"	"48268230"	"48268230"	"subst"	"0"	"04098"	"COL1A1_000227"	"g.48268230C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651657"	"0"	""	""	"g.50190869C>A"	""	"pathogenic (dominant)"	""
"0000875623"	"0"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"04098"	"COL1A1_000118"	"g.48268222C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651658"	"0"	""	""	"g.50190861C>T"	""	"pathogenic (dominant)"	""
"0000875624"	"0"	"90"	"17"	"48268221"	"48268221"	"subst"	"0"	"04098"	"COL1A1_001042"	"g.48268221C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190860C>T"	""	"pathogenic (dominant)"	""
"0000875625"	"0"	"90"	"17"	"48268213"	"48268213"	"subst"	"0"	"04098"	"COL1A1_000229"	"g.48268213C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67087075"	"0"	""	""	"g.50190852C>T"	""	"pathogenic (dominant)"	""
"0000875626"	"0"	"90"	"17"	"48268213"	"48268213"	"subst"	"0"	"04098"	"COL1A1_000137"	"g.48268213C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67087076"	"0"	""	""	"g.50190852C>A"	""	"pathogenic (dominant)"	""
"0000875627"	"0"	"90"	"17"	"48268212"	"48268212"	"subst"	"0"	"04098"	"COL1A1_000619"	"g.48268212C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190851C>T"	""	"pathogenic (dominant)"	""
"0000875628"	"0"	"90"	"17"	"48268204"	"48268204"	"subst"	"0"	"04098"	"COL1A1_000138"	"g.48268204C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651659"	"0"	""	""	"g.50190843C>T"	""	"pathogenic (dominant)"	""
"0000875629"	"0"	"90"	"17"	"48268204"	"48268204"	"subst"	"0"	"04098"	"COL1A1_000892"	"g.48268204C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190843C>A"	""	"pathogenic (dominant)"	""
"0000875630"	"0"	"90"	"17"	"48268202"	"48268202"	"del"	"0"	"04098"	"COL1A1_000789"	"g.48268202del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190841del"	""	"pathogenic (dominant)"	""
"0000875631"	"0"	"90"	"17"	"48268199"	"48268203"	"del"	"0"	"04098"	"COL1A1_000785"	"g.48268199_48268203del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190838_50190842del"	""	"pathogenic (dominant)"	""
"0000875632"	"0"	"90"	"17"	"48268195"	"48268195"	"subst"	"0"	"04098"	"COL1A1_000228"	"g.48268195C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651660"	"0"	""	""	"g.50190834C>T"	""	"pathogenic (dominant)"	""
"0000875633"	"0"	"90"	"17"	"48268192"	"48268192"	"del"	"0"	"04098"	"COL1A1_000902"	"g.48268192del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190831del"	""	"pathogenic (dominant)"	""
"0000875634"	"0"	"90"	"17"	"48268186"	"48268186"	"subst"	"0"	"04098"	"COL1A1_000230"	"g.48268186C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651661"	"0"	""	""	"g.50190825C>T"	""	"pathogenic (dominant)"	""
"0000875635"	"0"	"90"	"17"	"48268177"	"48268177"	"subst"	"0"	"04098"	"COL1A1_000866"	"g.48268177C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190816C>T"	""	"pathogenic (dominant)"	""
"0000875636"	"0"	"90"	"17"	"48267958"	"48267958"	"subst"	"0"	"04098"	"COL1A1_000728"	"g.48267958C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190597C>T"	""	"pathogenic (dominant)"	""
"0000875637"	"0"	"90"	"17"	"48267939"	"48267939"	"subst"	"0"	"04098"	"COL1A1_000140"	"g.48267939C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67879854"	"0"	""	""	"g.50190578C>T"	""	"pathogenic (dominant)"	""
"0000875638"	"0"	"90"	"17"	"48267939"	"48267939"	"subst"	"0"	"04098"	"COL1A1_000139"	"g.48267939C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67879855"	"0"	""	""	"g.50190578C>A"	""	"pathogenic (dominant)"	""
"0000875639"	"0"	"90"	"17"	"48267920"	"48267920"	"subst"	"0"	"04098"	"COL1A1_000580"	"g.48267920C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190559C>G"	""	"pathogenic (dominant)"	""
"0000875640"	"0"	"90"	"17"	"48267920"	"48267942"	"del"	"0"	"04098"	"COL1A1_000660"	"g.48267920_48267942del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190559_50190581del"	""	"pathogenic (dominant)"	""
"0000875641"	"0"	"90"	"17"	"48267912"	"48267912"	"del"	"0"	"04098"	"COL1A1_000787"	"g.48267912del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190551del"	""	"pathogenic (dominant)"	""
"0000875642"	"0"	"90"	"17"	"48267908"	"48267908"	"dup"	"0"	"04098"	"COL1A1_000459"	"g.48267908dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190547dup"	""	"pathogenic (dominant)"	""
"0000875643"	"0"	"90"	"17"	"48267908"	"48267908"	"del"	"0"	"04098"	"COL1A1_000641"	"g.48267908del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190547del"	""	"pathogenic (dominant)"	""
"0000875644"	"0"	"90"	"17"	"48267907"	"48267917"	"del"	"0"	"04098"	"COL1A1_000918"	"g.48267907_48267917del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190546_50190556del"	""	"pathogenic (dominant)"	""
"0000875645"	"0"	"90"	"17"	"48267742"	"48267742"	"subst"	"0"	"04098"	"COL1A1_001499"	"g.48267742C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190381C>T"	""	"pathogenic (dominant)"	""
"0000875646"	"0"	"90"	"17"	"48267741"	"48267741"	"subst"	"0"	"04098"	"COL1A1_001026"	"g.48267741C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190380C>A"	""	"pathogenic (dominant)"	""
"0000875647"	"0"	"90"	"17"	"48267733"	"48267741"	"del"	"0"	"04098"	"COL1A1_001103"	"g.48267733_48267741del"	""	""	""	""	"Deletion of one GlyXY triplet in the triple helix domain will create unequal end of the triple helix."	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875648"	"0"	"90"	"17"	"48267729"	"48267729"	"subst"	"0"	"04098"	"COL1A1_001273"	"g.48267729C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875649"	"0"	"90"	"17"	"48267723"	"48267723"	"subst"	"0"	"04098"	"COL1A1_000642"	"g.48267723C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190362C>T"	""	"pathogenic (dominant)"	""
"0000875650"	"0"	"90"	"17"	"48267721"	"48267721"	"del"	"0"	"04098"	"COL1A1_001351"	"g.48267721del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs193922148"	"0"	""	""	"g.50190360del"	""	"pathogenic (dominant)"	""
"0000875651"	"0"	"90"	"17"	"48267720"	"48267720"	"dup"	"0"	"04098"	"COL1A1_000863"	"g.48267720dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190359dup"	""	"pathogenic (dominant)"	""
"0000875652"	"0"	"90"	"17"	"48267720"	"48267720"	"del"	"0"	"04098"	"COL1A1_000697"	"g.48267720del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190359del"	""	"pathogenic (dominant)"	""
"0000875653"	"0"	"90"	"17"	"48267714"	"48267714"	"dup"	"0"	"04098"	"COL1A1_000989"	"g.48267714dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190353dup"	""	"pathogenic (dominant)"	""
"0000875654"	"0"	"90"	"17"	"48267714"	"48267714"	"subst"	"0"	"04098"	"COL1A1_000144"	"g.48267714C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651663"	"0"	""	""	"g.50190353C>T"	""	"pathogenic (dominant)"	""
"0000875655"	"0"	"90"	"17"	"48267705"	"48267705"	"subst"	"0"	"04098"	"COL1A1_001315"	"g.48267705C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190344C>T"	""	"pathogenic (dominant)"	""
"0000875656"	"0"	"90"	"17"	"48267696"	"48267696"	"del"	"0"	"04098"	"COL1A1_000323"	"g.48267696del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs66929519"	"0"	""	""	"g.50190335del"	""	"pathogenic (dominant)"	""
"0000875657"	"0"	"90"	"17"	"48267696"	"48267696"	"subst"	"0"	"04098"	"COL1A1_000890"	"g.48267696C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190335C>T"	""	"pathogenic (dominant)"	""
"0000875658"	"0"	"90"	"17"	"48267695"	"48267695"	"subst"	"0"	"04098"	"COL1A1_000146"	"g.48267695C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66929518"	"0"	""	""	"g.50190334C>G"	""	"pathogenic (dominant)"	""
"0000875659"	"0"	"90"	"17"	"48267695"	"48267695"	"subst"	"0"	"04098"	"COL1A1_000145"	"g.48267695C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66929517"	"0"	""	""	"g.50190334C>A"	""	"pathogenic (dominant)"	""
"0000875660"	"0"	"90"	"17"	"48267694"	"48267694"	"dup"	"0"	"04098"	"COL1A1_000962"	"g.48267694dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190333dup"	""	"pathogenic (dominant)"	""
"0000875661"	"0"	"90"	"17"	"48267694"	"48267694"	"del"	"0"	"04098"	"COL1A1_000923"	"g.48267694del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190333del"	""	"pathogenic (dominant)"	""
"0000875662"	"0"	"90"	"17"	"48267688"	"48267688"	"dup"	"0"	"04098"	"COL1A1_000325"	"g.48267688dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190327dup"	""	"pathogenic (dominant)"	""
"0000875663"	"0"	"90"	"17"	"48267688"	"48267688"	"del"	"0"	"04098"	"COL1A1_000324"	"g.48267688del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72651664"	"0"	""	""	"g.50190327del"	""	"pathogenic (dominant)"	""
"0000875664"	"0"	"90"	"17"	"48267687"	"48267687"	"subst"	"0"	"04098"	"COL1A1_001027"	"g.48267687C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190326C>T"	""	"pathogenic (dominant)"	""
"0000875665"	"0"	"90"	"17"	"48267687"	"48267687"	"subst"	"0"	"04098"	"COL1A1_001498"	"g.48267687C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190326C>A"	""	"pathogenic (dominant)"	""
"0000875666"	"0"	"90"	"17"	"48267675"	"48267693"	"del"	"0"	"04098"	"COL1A1_001497"	"g.48267675_48267693del"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190314_50190332del"	""	"pathogenic (dominant)"	""
"0000875667"	"0"	"90"	"17"	"48267628"	"48268186"	"del"	"0"	"04098"	"COL1A1_000322"	"g.48267628_48268186del"	""	""	""	""	"Large deletion, including part of exon 33 and exon 34-35. Leads to skipping exon 33 and loss of exon 34-35 and inframe effect"	"SUMMARY record"	""	"rs74315133"	"0"	""	""	"g.50190267_50190825del"	""	"pathogenic (dominant)"	""
"0000875668"	"0"	"90"	"17"	"48267471"	"48267471"	"subst"	"0"	"04098"	"COL1A1_000431"	"g.48267471T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651666"	"0"	""	""	"g.50190110T>C"	""	"pathogenic (dominant)"	""
"0000875669"	"0"	"90"	"17"	"48267471"	"48267471"	"subst"	"0"	"04098"	"COL1A1_000836"	"g.48267471T>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190110T>A"	""	"pathogenic (dominant)"	""
"0000875670"	"0"	"90"	"17"	"48267470"	"48267470"	"subst"	"0"	"04098"	"COL1A1_000432"	"g.48267470C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72651667"	"0"	""	""	"g.50190109C>T"	""	"pathogenic (dominant)"	""
"0000875671"	"0"	"90"	"17"	"48267469"	"48267469"	"subst"	"0"	"04098"	"COL1A1_001083"	"g.48267469C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875672"	"0"	"90"	"17"	"48267460"	"48267460"	"subst"	"0"	"04098"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67693971"	"0"	""	""	"g.50190099C>T"	""	"pathogenic (dominant)"	""
"0000875673"	"0"	"90"	"17"	"48267460"	"48267460"	"subst"	"0"	"04098"	"COL1A1_000120"	"g.48267460C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67693970"	"0"	""	""	"g.50190099C>G"	""	"pathogenic (dominant)"	""
"0000875674"	"0"	"90"	"17"	"48267457"	"48267457"	"subst"	"0"	"04098"	"COL1A1_000232"	"g.48267457G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72651668"	"0"	""	""	"g.50190096G>A"	""	"pathogenic (dominant)"	""
"0000875675"	"0"	"90"	"17"	"48267451"	"48267451"	"subst"	"0"	"04098"	"COL1A1_000483"	"g.48267451C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190090C>G"	""	"pathogenic (dominant)"	""
"0000875676"	"0"	"90"	"17"	"48267451"	"48267451"	"subst"	"0"	"04098"	"COL1A1_000151"	"g.48267451C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72651669"	"0"	""	""	"g.50190090C>A"	""	"pathogenic (dominant)"	""
"0000875677"	"0"	"90"	"17"	"48267450"	"48267450"	"subst"	"0"	"04098"	"COL1A1_000643"	"g.48267450C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190089C>G"	""	"pathogenic (dominant)"	""
"0000875678"	"0"	"90"	"17"	"48267444"	"48267445"	"del"	"0"	"04098"	"COL1A1_001381"	"g.48267444_48267445del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190083_50190084del"	""	"pathogenic (dominant)"	""
"0000875679"	"0"	"90"	"17"	"48267442"	"48267442"	"subst"	"0"	"04098"	"COL1A1_001338"	"g.48267442C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190081C>T"	""	"pathogenic (dominant)"	""
"0000875680"	"0"	"90"	"17"	"48267441"	"48267441"	"subst"	"0"	"04098"	"COL1A1_000234"	"g.48267441C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653129"	"0"	""	""	"g.50190080C>T"	""	"pathogenic (dominant)"	""
"0000875681"	"0"	"90"	"17"	"48267424"	"48267424"	"subst"	"0"	"04098"	"COL1A1_000811"	"g.48267424C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190063C>T"	""	"pathogenic (dominant)"	""
"0000875682"	"0"	"90"	"17"	"48267423"	"48267423"	"subst"	"0"	"04098"	"COL1A1_000152"	"g.48267423C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67067133"	"0"	""	""	"g.50190062C>T"	""	"pathogenic (dominant)"	""
"0000875683"	"0"	"90"	"17"	"48267423"	"48267423"	"subst"	"0"	"04098"	"COL1A1_000135"	"g.48267423C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67067134"	"0"	""	""	"g.50190062C>A"	""	"pathogenic (dominant)"	""
"0000875684"	"0"	"90"	"17"	"48267414"	"48267414"	"subst"	"0"	"04098"	"COL1A1_000155"	"g.48267414C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653130"	"0"	""	""	"g.50190053C>G"	""	"pathogenic (dominant)"	""
"0000875685"	"0"	"90"	"17"	"48267406"	"48267406"	"subst"	"0"	"04098"	"COL1A1_000156"	"g.48267406C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653131"	"0"	""	""	"g.50190045C>T"	""	"pathogenic (dominant)"	""
"0000875686"	"0"	"90"	"17"	"48267406"	"48267406"	"subst"	"0"	"04098"	"COL1A1_000820"	"g.48267406C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190045C>G"	""	"pathogenic (dominant)"	""
"0000875687"	"0"	"90"	"17"	"48267405"	"48267405"	"subst"	"0"	"04098"	"COL1A1_000157"	"g.48267405C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653132"	"0"	""	""	"g.50190044C>T"	""	"pathogenic (dominant)"	""
"0000875688"	"0"	"90"	"17"	"48267403"	"48267403"	"dup"	"0"	"04098"	"COL1A1_000331"	"g.48267403dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190042dup"	""	"pathogenic (dominant)"	""
"0000875689"	"0"	"90"	"17"	"48267403"	"48267403"	"del"	"0"	"04098"	"COL1A1_001043"	"g.48267403del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190042del"	""	"pathogenic (dominant)"	""
"0000875690"	"0"	"90"	"17"	"48267398"	"48267398"	"del"	"0"	"04098"	"COL1A1_000326"	"g.48267398del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic (dominant)"	""
"0000875691"	"0"	"90"	"17"	"48267397"	"48267397"	"del"	"0"	"04098"	"COL1A1_000851"	"g.48267397del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190036del"	""	"pathogenic (dominant)"	""
"0000875692"	"0"	"90"	"17"	"48267397"	"48267397"	"subst"	"0"	"04098"	"COL1A1_000158"	"g.48267397C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653134"	"0"	""	""	"g.50190036C>G"	""	"pathogenic (dominant)"	""
"0000875693"	"0"	"90"	"17"	"48267397"	"48267412"	"del"	"0"	"04098"	"COL1A1_000330"	"g.48267397_48267412del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs74315116"	"0"	""	""	"g.50190036_50190051del"	""	"pathogenic (dominant)"	""
"0000875694"	"0"	"90"	"17"	"48267396"	"48267396"	"subst"	"0"	"04098"	"COL1A1_000159"	"g.48267396C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653135"	"0"	""	""	"g.50190035C>T"	""	"pathogenic (dominant)"	""
"0000875695"	"0"	"90"	"17"	"48267388"	"48267388"	"subst"	"0"	"04098"	"COL1A1_000160"	"g.48267388C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653136"	"0"	""	""	"g.50190027C>T"	""	"pathogenic (dominant)"	""
"0000875696"	"0"	"90"	"17"	"48267388"	"48267388"	"subst"	"0"	"04098"	"COL1A1_000484"	"g.48267388C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190027C>G"	""	"pathogenic (dominant)"	""
"0000875697"	"0"	"90"	"17"	"48267388"	"48267388"	"subst"	"0"	"04098"	"COL1A1_001360"	"g.48267388C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190027C>A"	""	"pathogenic (dominant)"	""
"0000875698"	"0"	"90"	"17"	"48267379"	"48267379"	"subst"	"0"	"04098"	"COL1A1_000485"	"g.48267379C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190018C>G"	""	"pathogenic (dominant)"	""
"0000875699"	"0"	"90"	"17"	"48267378"	"48267378"	"subst"	"0"	"04098"	"COL1A1_001583"	"g.48267378C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190017C>G"	""	"pathogenic (dominant)"	""
"0000875700"	"0"	"90"	"17"	"48267376"	"48267376"	"del"	"0"	"04098"	"COL1A1_000854"	"g.48267376del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190015del"	""	"pathogenic (dominant)"	""
"0000875701"	"0"	"90"	"17"	"48267375"	"48267376"	"dup"	"0"	"04098"	"COL1A1_001319"	"g.48267375_48267376dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190014_50190015dup"	""	"pathogenic (dominant)"	""
"0000875702"	"0"	"90"	"17"	"48267371"	"48267371"	"dup"	"0"	"04098"	"COL1A1_000328"	"g.48267371dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190010dup"	""	"pathogenic (dominant)"	""
"0000875703"	"0"	"90"	"17"	"48267371"	"48267371"	"del"	"0"	"04098"	"COL1A1_000650"	"g.48267371del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190010del"	""	"pathogenic (dominant)"	""
"0000875704"	"0"	"90"	"17"	"48267369"	"48267369"	"subst"	"0"	"04098"	"COL1A1_000161"	"g.48267369C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653137"	"0"	""	""	"g.50190008C>T"	""	"pathogenic (dominant)"	""
"0000875705"	"0"	"90"	"17"	"48267368"	"48267369"	"delins"	"0"	"04098"	"COL1A1_000603"	"g.48267368_48267369delinsAA"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50190007_50190008delinsAA"	""	"pathogenic (dominant)"	""
"0000875706"	"0"	"90"	"17"	"48267365"	"48267373"	"del"	"0"	"04098"	"COL1A1_001066"	"g.48267365_48267373del"	""	""	""	""	"Deletion of three amino acids in the triple helix domain will cause enequal lengt of strands in the triple helix."	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875707"	"0"	"90"	"17"	"48267361"	"48267361"	"subst"	"0"	"04098"	"COL1A1_000698"	"g.48267361C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50190000C>T"	""	"pathogenic (dominant)"	""
"0000875708"	"0"	"90"	"17"	"48267360"	"48267360"	"subst"	"0"	"04098"	"COL1A1_001492"	"g.48267360A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189999A>T"	""	"pathogenic (dominant)"	""
"0000875709"	"0"	"90"	"17"	"48267360"	"48267360"	"subst"	"0"	"04098"	"COL1A1_000624"	"g.48267360A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189999A>G"	""	"pathogenic (dominant)"	""
"0000875710"	"0"	"90"	"17"	"48267356"	"48267415"	"del"	"0"	"04098"	"COL1A1_000495"	"g.48267356_48267415del"	""	""	""	""	"Multinucleotide deletion, encompassing the canonical splice donor site."	"SUMMARY record"	""	""	"0"	""	""	"g.50189995_50190054del"	""	"pathogenic (dominant)"	""
"0000875711"	"0"	"90"	"17"	"48267274"	"48267274"	"subst"	"0"	"04098"	"COL1A1_000434"	"g.48267274C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72653139"	"0"	""	""	"g.50189913C>T"	""	"pathogenic (dominant)"	""
"0000875712"	"0"	"90"	"17"	"48267273"	"48267273"	"subst"	"0"	"04098"	"COL1A1_000162"	"g.48267273C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653140"	"0"	""	""	"g.50189912C>T"	""	"pathogenic (dominant)"	""
"0000875713"	"0"	"90"	"17"	"48267273"	"48267273"	"subst"	"0"	"04098"	"COL1A1_000714"	"g.48267273C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189912C>G"	""	"pathogenic (dominant)"	""
"0000875714"	"0"	"90"	"17"	"48267273"	"48267273"	"subst"	"0"	"04098"	"COL1A1_000963"	"g.48267273C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189912C>A"	""	"pathogenic (dominant)"	""
"0000875715"	"0"	"90"	"17"	"48267272"	"48267272"	"subst"	"0"	"04098"	"COL1A1_000604"	"g.48267272C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189911C>A"	""	"pathogenic (dominant)"	""
"0000875716"	"0"	"90"	"17"	"48267268"	"48267271"	"dup"	"0"	"04098"	"COL1A1_001106"	"g.48267268_48267271dup"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875717"	"0"	"90"	"17"	"48267266"	"48267268"	"del"	"0"	"04098"	"COL1A1_000729"	"g.48267266_48267268del"	""	""	""	""	"Deletion of one amino acid in the triple heix domain will disrupt triple helix formation"	"SUMMARY record"	""	""	"0"	""	""	"g.50189905_50189907del"	""	"pathogenic (dominant)"	""
"0000875718"	"0"	"90"	"17"	"48267264"	"48267264"	"subst"	"0"	"04098"	"COL1A1_000164"	"g.48267264C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653141"	"0"	""	""	"g.50189903C>A"	""	"pathogenic (dominant)"	""
"0000875719"	"0"	"90"	"17"	"48267254"	"48267254"	"subst"	"0"	"04098"	"COL1A1_000165"	"g.48267254C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653142"	"0"	""	""	"g.50189893C>G"	""	"pathogenic (dominant)"	""
"0000875720"	"0"	"90"	"17"	"48267246"	"48267246"	"subst"	"0"	"04098"	"COL1A1_000715"	"g.48267246C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189885C>A"	""	"pathogenic (dominant)"	""
"0000875721"	"0"	"90"	"17"	"48267245"	"48267245"	"subst"	"0"	"04098"	"COL1A1_000605"	"g.48267245C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189884C>A"	""	"pathogenic (dominant)"	""
"0000875722"	"0"	"90"	"17"	"48267239"	"48267239"	"dup"	"0"	"04098"	"COL1A1_000661"	"g.48267239dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189878dup"	""	"pathogenic (dominant)"	""
"0000875723"	"0"	"90"	"17"	"48267237"	"48267237"	"subst"	"0"	"04098"	"COL1A1_000166"	"g.48267237C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67445414"	"0"	""	""	"g.50189876C>T"	""	"pathogenic (dominant)"	""
"0000875724"	"0"	"90"	"17"	"48267237"	"48267237"	"subst"	"0"	"04098"	"COL1A1_000168"	"g.48267237C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67445413"	"0"	""	""	"g.50189876C>A"	""	"pathogenic (dominant)"	""
"0000875725"	"0"	"90"	"17"	"48267236"	"48267236"	"subst"	"0"	"04098"	"COL1A1_000716"	"g.48267236C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189875C>G"	""	"pathogenic (dominant)"	""
"0000875726"	"0"	"90"	"17"	"48267228"	"48267228"	"subst"	"0"	"04098"	"COL1A1_000235"	"g.48267228C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653143"	"0"	""	""	"g.50189867C>A"	""	"pathogenic (dominant)"	""
"0000875727"	"0"	"90"	"17"	"48267225"	"48267225"	"dup"	"0"	"04098"	"COL1A1_000678"	"g.48267225dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189864dup"	""	"pathogenic (dominant)"	""
"0000875728"	"0"	"90"	"17"	"48267225"	"48267225"	"del"	"0"	"04098"	"COL1A1_000455"	"g.48267225del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189864del"	""	"pathogenic (dominant)"	""
"0000875729"	"0"	"90"	"17"	"48267220"	"48267220"	"del"	"0"	"04098"	"COL1A1_000334"	"g.48267220del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72653144"	"0"	""	""	"g.50189859del"	""	"pathogenic (dominant)"	""
"0000875730"	"0"	"90"	"17"	"48267220"	"48267221"	"del"	"0"	"04098"	"COL1A1_001028"	"g.48267220_48267221del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189859_50189860del"	""	"pathogenic (dominant)"	""
"0000875731"	"0"	"90"	"17"	"48267094"	"48267094"	"subst"	"0"	"04098"	"COL1A1_000553"	"g.48267094C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189733C>T"	""	"pathogenic (dominant)"	""
"0000875732"	"0"	"90"	"17"	"48267094"	"48267094"	"subst"	"0"	"04098"	"COL1A1_001376"	"g.48267094C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189733C>A"	""	"pathogenic (dominant)"	""
"0000875733"	"0"	"90"	"17"	"48267092"	"48267092"	"subst"	"0"	"04098"	"COL1A1_000829"	"g.48267092C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189731C>G"	""	"pathogenic (dominant)"	""
"0000875734"	"0"	"90"	"17"	"48267084"	"48267084"	"subst"	"0"	"04098"	"COL1A1_000171"	"g.48267084C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653145"	"0"	""	""	"g.50189723C>T"	""	"pathogenic (dominant)"	""
"0000875735"	"0"	"90"	"17"	"48267075"	"48267075"	"subst"	"0"	"04098"	"COL1A1_000172"	"g.48267075C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653146"	"0"	""	""	"g.50189714C>T"	""	"pathogenic (dominant)"	""
"0000875736"	"0"	"90"	"17"	"48267074"	"48267074"	"subst"	"0"	"04098"	"COL1A1_000750"	"g.48267074C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189713C>T"	""	"pathogenic (dominant)"	""
"0000875737"	"0"	"90"	"17"	"48267065"	"48267065"	"subst"	"0"	"04098"	"COL1A1_000717"	"g.48267065C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189704C>A"	""	"pathogenic (dominant)"	""
"0000875738"	"0"	"90"	"17"	"48267063"	"48267063"	"subst"	"0"	"04098"	"COL1A1_000236"	"g.48267063G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72653147"	"0"	""	""	"g.50189702G>A"	""	"pathogenic (dominant)"	""
"0000875739"	"0"	"90"	"17"	"48267061"	"48267062"	"del"	"0"	"04098"	"COL1A1_000332"	"g.48267061_48267062del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72653148"	"0"	""	""	"g.50189700_50189701del"	""	"pathogenic (dominant)"	""
"0000875740"	"0"	"90"	"17"	"48267057"	"48267057"	"subst"	"0"	"04098"	"COL1A1_000487"	"g.48267057C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189696C>T"	""	"pathogenic (dominant)"	""
"0000875741"	"0"	"90"	"17"	"48267048"	"48267048"	"subst"	"0"	"04098"	"COL1A1_000173"	"g.48267048C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653149"	"0"	""	""	"g.50189687C>T"	""	"pathogenic (dominant)"	""
"0000875742"	"0"	"90"	"17"	"48267046"	"48267064"	"dup"	"0"	"04098"	"COL1A1_000825"	"g.48267046_48267064dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189685_50189703dup"	""	"pathogenic (dominant)"	""
"0000875743"	"0"	"90"	"17"	"48267039"	"48267039"	"subst"	"0"	"04098"	"COL1A1_000436"	"g.48267039C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72653150"	"0"	""	""	"g.50189678C>T"	""	"pathogenic (dominant)"	""
"0000875744"	"0"	"90"	"17"	"48267038"	"48267038"	"subst"	"0"	"04098"	"COL1A1_000781"	"g.48267038A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189677A>C"	""	"pathogenic (dominant)"	""
"0000875745"	"0"	"70"	"17"	"48267036"	"48267039"	"del"	"0"	"04098"	"COL1A1_000882"	"g.48267036_48267039del"	""	""	""	""	"Loss of splice donor site predicted by 4/4 algorythms"	"SUMMARY record"	""	"rs1114167393"	"0"	""	""	"g.50189675_50189678del"	""	"likely pathogenic (dominant)"	""
"0000875746"	"0"	"90"	"17"	"48266900"	"48266900"	"subst"	"0"	"04098"	"COL1A1_000730"	"g.48266900C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189539C>T"	""	"pathogenic (dominant)"	""
"0000875747"	"0"	"90"	"17"	"48266900"	"48266900"	"subst"	"0"	"04098"	"COL1A1_001379"	"g.48266900C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189539C>G"	""	"pathogenic (dominant)"	""
"0000875748"	"0"	"90"	"17"	"48266900"	"48266900"	"subst"	"0"	"04098"	"COL1A1_000548"	"g.48266900C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189539C>A"	""	"pathogenic (dominant)"	""
"0000875749"	"0"	"90"	"17"	"48266887"	"48266887"	"dup"	"0"	"04098"	"COL1A1_000965"	"g.48266887dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189526dup"	""	"pathogenic (dominant)"	""
"0000875750"	"0"	"90"	"17"	"48266887"	"48266887"	"del"	"0"	"04098"	"COL1A1_000280"	"g.48266887del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72653151"	"0"	""	""	"g.50189526del"	""	"pathogenic (dominant)"	""
"0000875751"	"0"	"90"	"17"	"48266882"	"48266882"	"del"	"0"	"04098"	"COL1A1_001350"	"g.48266882del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs193922151"	"0"	""	""	"g.50189521del"	""	"pathogenic (dominant)"	""
"0000875752"	"0"	"90"	"17"	"48266881"	"48266881"	"subst"	"0"	"04098"	"COL1A1_000174"	"g.48266881C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653152"	"0"	""	""	"g.50189520C>A"	""	"pathogenic (dominant)"	""
"0000875753"	"0"	"90"	"17"	"48266880"	"48266880"	"subst"	"0"	"04098"	"COL1A1_000488"	"g.48266880C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189519C>T"	""	"pathogenic (dominant)"	""
"0000875754"	"0"	"90"	"17"	"48266871"	"48266871"	"subst"	"0"	"04098"	"COL1A1_001599"	"g.48266871C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875755"	"0"	"90"	"17"	"48266863"	"48266863"	"subst"	"0"	"04098"	"COL1A1_001130"	"g.48266863C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875756"	"0"	"30"	"17"	"48266851"	"48266851"	"subst"	"0.000175246"	"04098"	"COL1A1_000607"	"g.48266851C>T"	""	""	""	""	"This is the second Gly in a triplet of the triple helix. The Gly is not well conserved and the variant has no effect on triple helix formation."	"SUMMARY record"	""	""	"0"	""	""	"g.50189490C>T"	""	"likely benign"	""
"0000875757"	"0"	"90"	"17"	"48266837"	"48266845"	"del"	"0"	"04098"	"COL1A1_000333"	"g.48266837_48266845del"	""	""	""	""	"Deletion of three amino acids in the triple helix domain will cause enequal lengt of strands in the triple helix."	"SUMMARY record"	""	"rs74315136"	"0"	""	""	"g.50189476_50189484del"	""	"pathogenic (dominant)"	""
"0000875758"	"0"	"90"	"17"	"48266836"	"48266836"	"del"	"0"	"04098"	"COL1A1_000966"	"g.48266836del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189475del"	""	"pathogenic (dominant)"	""
"0000875759"	"0"	"90"	"17"	"48266836"	"48266836"	"subst"	"0"	"04098"	"COL1A1_000817"	"g.48266836C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189475C>T"	""	"pathogenic (dominant)"	""
"0000875760"	"0"	"90"	"17"	"48266818"	"48266818"	"del"	"0"	"04098"	"COL1A1_001295"	"g.48266818del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189457del"	""	"pathogenic (dominant)"	""
"0000875761"	"0"	"90"	"17"	"48266817"	"48266817"	"subst"	"0"	"04098"	"COL1A1_000175"	"g.48266817C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653153"	"0"	""	""	"g.50189456C>T"	""	"pathogenic (dominant)"	""
"0000875762"	"0"	"90"	"17"	"48266809"	"48266809"	"subst"	"0"	"04098"	"COL1A1_001589"	"g.48266809C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189448C>T"	""	"pathogenic (dominant)"	""
"0000875763"	"0"	"90"	"17"	"48266797"	"48266797"	"del"	"0"	"04098"	"COL1A1_000606"	"g.48266797del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189436del"	""	"pathogenic (dominant)"	""
"0000875764"	"0"	"90"	"17"	"48266792"	"48266792"	"del"	"0"	"04098"	"COL1A1_000889"	"g.48266792del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189431del"	""	"pathogenic (dominant)"	""
"0000875765"	"0"	"90"	"17"	"48266791"	"48266791"	"subst"	"0"	"04098"	"COL1A1_000237"	"g.48266791C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653154"	"0"	""	""	"g.50189430C>A"	""	"pathogenic (dominant)"	""
"0000875766"	"0"	"90"	"17"	"48266783"	"48266783"	"del"	"0"	"04098"	"COL1A1_000282"	"g.48266783del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72653155"	"0"	""	""	"g.50189422del"	""	"pathogenic (dominant)"	""
"0000875767"	"0"	"90"	"17"	"48266772"	"48266772"	"subst"	"0"	"04098"	"COL1A1_000718"	"g.48266772C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189411C>T"	""	"pathogenic (dominant)"	""
"0000875768"	"0"	"90"	"17"	"48266760"	"48266760"	"dup"	"0"	"04098"	"COL1A1_000929"	"g.48266760dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189399dup"	""	"pathogenic (dominant)"	""
"0000875769"	"0"	"90"	"17"	"48266746"	"48266746"	"del"	"0"	"04098"	"COL1A1_001305"	"g.48266746del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189385del"	""	"pathogenic (dominant)"	""
"0000875770"	"0"	"90"	"17"	"48266737"	"48266737"	"subst"	"0"	"04098"	"COL1A1_000435"	"g.48266737C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72653156"	"0"	""	""	"g.50189376C>T"	""	"pathogenic (dominant)"	""
"0000875771"	"0"	"90"	"17"	"48266737"	"48266737"	"subst"	"0"	"04098"	"COL1A1_001100"	"g.48266737C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875772"	"0"	"90"	"17"	"48266637"	"48266637"	"subst"	"0"	"04098"	"COL1A1_001080"	"g.48266637C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189276C>T"	""	"pathogenic (dominant)"	""
"0000875773"	"0"	"90"	"17"	"48266636"	"48266636"	"subst"	"0"	"04098"	"COL1A1_000176"	"g.48266636C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653158"	"0"	""	""	"g.50189275C>A"	""	"pathogenic (dominant)"	""
"0000875774"	"0"	"90"	"17"	"48266635"	"48266635"	"subst"	"0"	"04098"	"COL1A1_001594"	"g.48266635C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189274C>A"	""	"pathogenic (dominant)"	""
"0000875775"	"0"	"90"	"17"	"48266627"	"48266627"	"subst"	"0"	"04098"	"COL1A1_000177"	"g.48266627C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653159"	"0"	""	""	"g.50189266C>A"	""	"pathogenic (dominant)"	""
"0000875776"	"0"	"90"	"17"	"48266618"	"48266618"	"dup"	"0"	"04098"	"COL1A1_001073"	"g.48266618dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189257dup"	""	"pathogenic (dominant)"	""
"0000875777"	"0"	"90"	"17"	"48266618"	"48266618"	"subst"	"0"	"04098"	"COL1A1_000178"	"g.48266618C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653160"	"0"	""	""	"g.50189257C>T"	""	"pathogenic (dominant)"	""
"0000875778"	"0"	"90"	"17"	"48266599"	"48266599"	"subst"	"0"	"04098"	"COL1A1_001278"	"g.48266599C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875779"	"0"	"90"	"17"	"48266597"	"48266597"	"subst"	"0"	"04098"	"COL1A1_000238"	"g.48266597G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72653161"	"0"	""	""	"g.50189236G>A"	""	"pathogenic (dominant)"	""
"0000875780"	"0"	"90"	"17"	"48266593"	"48266596"	"del"	"0"	"04098"	"COL1A1_001030"	"g.48266593_48266596del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189232_50189235del"	""	"pathogenic (dominant)"	""
"0000875781"	"0"	"90"	"17"	"48266589"	"48266589"	"del"	"0"	"04098"	"COL1A1_000821"	"g.48266589del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189228del"	""	"pathogenic (dominant)"	""
"0000875782"	"0"	"90"	"17"	"48266586"	"48266586"	"del"	"0"	"04098"	"COL1A1_000848"	"g.48266586del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189225del"	""	"pathogenic (dominant)"	""
"0000875783"	"0"	"90"	"17"	"48266581"	"48266581"	"subst"	"0"	"04098"	"COL1A1_000179"	"g.48266581C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653163"	"0"	""	""	"g.50189220C>T"	""	"pathogenic (dominant)"	""
"0000875784"	"0"	"90"	"17"	"48266555"	"48266558"	"del"	"0"	"04098"	"COL1A1_001129"	"g.48266555_48266558del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875785"	"0"	"90"	"17"	"48266555"	"48266556"	"ins"	"0"	"04098"	"COL1A1_001380"	"g.48266555_48266556insCT"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189194_50189195insCT"	""	"pathogenic (dominant)"	""
"0000875786"	"0"	"90"	"17"	"48266545"	"48266545"	"subst"	"0"	"04098"	"COL1A1_000180"	"g.48266545C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653164"	"0"	""	""	"g.50189184C>T"	""	"pathogenic (dominant)"	""
"0000875787"	"0"	"90"	"17"	"48266545"	"48266545"	"subst"	"0"	"04098"	"COL1A1_000521"	"g.48266545C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189184C>G"	""	"pathogenic (dominant)"	""
"0000875788"	"0"	"90"	"17"	"48266544"	"48266553"	"del"	"0"	"04098"	"COL1A1_000644"	"g.48266544_48266553del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189183_50189192del"	""	"pathogenic (dominant)"	""
"0000875789"	"0"	"90"	"17"	"48266536"	"48266536"	"subst"	"0"	"04098"	"COL1A1_000490"	"g.48266536C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50189175C>T"	""	"pathogenic (dominant)"	""
"0000875790"	"0"	"90"	"17"	"48266535"	"48266535"	"del"	"0"	"04098"	"COL1A1_000864"	"g.48266535del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189174del"	""	"pathogenic (dominant)"	""
"0000875791"	"0"	"90"	"17"	"48266531"	"48266531"	"del"	"0"	"04098"	"COL1A1_001031"	"g.48266531del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189170del"	""	"pathogenic (dominant)"	""
"0000875792"	"0"	"90"	"17"	"48266527"	"48266527"	"subst"	"0"	"04098"	"COL1A1_000733"	"g.48266527A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189166A>T"	""	"pathogenic (dominant)"	""
"0000875793"	"0"	"90"	"17"	"48266373"	"48266373"	"subst"	"0"	"04098"	"COL1A1_001487"	"g.48266373T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189012T>C"	""	"pathogenic (dominant)"	""
"0000875794"	"0"	"90"	"17"	"48266372"	"48266372"	"subst"	"0"	"04098"	"COL1A1_001486"	"g.48266372C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50189011C>T"	""	"pathogenic (dominant)"	""
"0000875795"	"0"	"90"	"17"	"48266370"	"48266370"	"subst"	"0"	"04098"	"COL1A1_000240"	"g.48266370C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653166"	"0"	""	""	"g.50189009C>A"	""	"pathogenic (dominant)"	""
"0000875796"	"0"	"90"	"17"	"48266356"	"48266356"	"subst"	"0"	"04098"	"COL1A1_000528"	"g.48266356G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188995G>A"	""	"pathogenic (dominant)"	""
"0000875797"	"0"	"90"	"17"	"48266353"	"48266353"	"subst"	"0"	"04098"	"COL1A1_001050"	"g.48266353C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188992C>T"	""	"pathogenic (dominant)"	""
"0000875798"	"0"	"90"	"17"	"48266337"	"48266337"	"del"	"0"	"04098"	"COL1A1_000928"	"g.48266337del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188976del"	""	"pathogenic (dominant)"	""
"0000875799"	"0"	"90"	"17"	"48266324"	"48266324"	"del"	"0"	"04098"	"COL1A1_001032"	"g.48266324del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188963del"	""	"pathogenic (dominant)"	""
"0000875800"	"0"	"90"	"17"	"48266323"	"48266323"	"del"	"0"	"04098"	"COL1A1_001033"	"g.48266323del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188962del"	""	"pathogenic (dominant)"	""
"0000875801"	"0"	"90"	"17"	"48266318"	"48266318"	"del"	"0"	"04098"	"COL1A1_000646"	"g.48266318del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188957del"	""	"pathogenic (dominant)"	""
"0000875802"	"0"	"90"	"17"	"48266308"	"48266308"	"subst"	"0"	"04098"	"COL1A1_000181"	"g.48266308C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653167"	"0"	""	""	"g.50188947C>A"	""	"pathogenic (dominant)"	""
"0000875803"	"0"	"90"	"17"	"48266306"	"48266306"	"dup"	"0"	"04098"	"COL1A1_000458"	"g.48266306dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188945dup"	""	"pathogenic (dominant)"	""
"0000875804"	"0"	"90"	"17"	"48266306"	"48266306"	"del"	"0"	"04098"	"COL1A1_000335"	"g.48266306del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72653168"	"0"	""	""	"g.50188945del"	""	"pathogenic (dominant)"	""
"0000875805"	"0"	"90"	"17"	"48266287"	"48266287"	"del"	"0"	"04098"	"COL1A1_000651"	"g.48266287del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188926del"	""	"pathogenic (dominant)"	""
"0000875806"	"0"	"90"	"17"	"48266282"	"48266282"	"del"	"0"	"04098"	"COL1A1_000525"	"g.48266282del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188921del"	""	"pathogenic (dominant)"	""
"0000875807"	"0"	"90"	"17"	"48266281"	"48266281"	"subst"	"0"	"04098"	"COL1A1_000241"	"g.48266281C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653169"	"0"	""	""	"g.50188920C>T"	""	"pathogenic (dominant)"	""
"0000875808"	"0"	"90"	"17"	"48266271"	"48266271"	"subst"	"0"	"04098"	"COL1A1_001034"	"g.48266271C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188910C>T"	""	"pathogenic (dominant)"	""
"0000875809"	"0"	"90"	"17"	"48266263"	"48266263"	"subst"	"0"	"04098"	"COL1A1_000870"	"g.48266263C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188902C>T"	""	"pathogenic (dominant)"	""
"0000875810"	"0"	"90"	"17"	"48266263"	"48266263"	"subst"	"0"	"04098"	"COL1A1_001483"	"g.48266263C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188902C>A"	""	"pathogenic (dominant)"	""
"0000875811"	"0"	"90"	"17"	"48266262"	"48266262"	"subst"	"0"	"04098"	"COL1A1_001374"	"g.48266262A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188901A>T"	""	"pathogenic (dominant)"	""
"0000875812"	"0"	"90"	"17"	"48266262"	"48266273"	"del"	"0"	"04098"	"COL1A1_001300"	"g.48266262_48266273del"	""	""	""	""	"Loss of canonical splice donor site with exon skipping and inframe deletion.  Pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875813"	"0"	"10"	"17"	"48266176"	"48266177"	"dup"	"0"	"04098"	"COL1A1_000738"	"g.48266176_48266177dup"	""	""	""	""	"Intronic; no effect on splicing predicted"	"SUMMARY record"	""	""	"0"	""	""	"g.50188815_50188816dup"	""	"benign"	""
"0000875814"	"0"	"10"	"17"	"48266176"	"48266177"	"del"	"0"	"04098"	"COL1A1_001482"	"g.48266176_48266177del"	""	""	""	""	"Intronic; no effect on splicing predicted"	"SUMMARY record"	""	"rs138425306"	"0"	""	""	"g.50188815_50188816del"	""	"benign"	""
"0000875815"	"0"	"90"	"17"	"48266158"	"48266158"	"subst"	"0"	"04098"	"COL1A1_000439"	"g.48266158T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72653171"	"0"	""	""	"g.50188797T>C"	""	"pathogenic (dominant)"	""
"0000875816"	"0"	"90"	"17"	"48266157"	"48266157"	"subst"	"0"	"04098"	"COL1A1_000441"	"g.48266157C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67965463"	"0"	""	""	"g.50188796C>T"	""	"pathogenic (dominant)"	""
"0000875817"	"0"	"90"	"17"	"48266157"	"48266157"	"subst"	"0"	"04098"	"COL1A1_000440"	"g.48266157C>A"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs67965462"	"0"	""	""	"g.50188796C>A"	""	"pathogenic (dominant)"	""
"0000875818"	"0"	"90"	"17"	"48266156"	"48266156"	"subst"	"0"	"04098"	"COL1A1_000719"	"g.48266156C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188795C>G"	""	"pathogenic (dominant)"	""
"0000875819"	"0"	"90"	"17"	"48266138"	"48266138"	"del"	"0"	"04098"	"COL1A1_000336"	"g.48266138del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs66523074"	"0"	""	""	"g.50188777del"	""	"pathogenic (dominant)"	""
"0000875820"	"0"	"90"	"17"	"48266138"	"48266138"	"subst"	"0"	"04098"	"COL1A1_000243"	"g.48266138C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66523073"	"0"	""	""	"g.50188777C>T"	""	"pathogenic (dominant)"	""
"0000875821"	"0"	"90"	"17"	"48266137"	"48266137"	"subst"	"0"	"04098"	"COL1A1_000182"	"g.48266137C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67771061"	"0"	""	""	"g.50188776C>G"	""	"pathogenic (dominant)"	""
"0000875822"	"0"	"90"	"17"	"48266137"	"48266137"	"subst"	"0"	"04098"	"COL1A1_000183"	"g.48266137C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67771062"	"0"	""	""	"g.50188776C>A"	""	"pathogenic (dominant)"	""
"0000875823"	"0"	"90"	"17"	"48266131"	"48266132"	"delins"	"0"	"04098"	"COL1A1_001035"	"g.48266131_48266132delinsC"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188770_50188771delinsC"	""	"pathogenic (dominant)"	""
"0000875824"	"0"	"90"	"17"	"48266129"	"48266129"	"del"	"0"	"04098"	"COL1A1_000609"	"g.48266129del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188768del"	""	"pathogenic (dominant)"	""
"0000875825"	"0"	"90"	"17"	"48266129"	"48266129"	"subst"	"0"	"04098"	"COL1A1_000184"	"g.48266129C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653172"	"0"	""	""	"g.50188768C>T"	""	"pathogenic (dominant)"	""
"0000875826"	"0"	"90"	"17"	"48266126"	"48266126"	"subst"	"0"	"04098"	"COL1A1_000244"	"g.48266126G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72653173"	"0"	""	""	"g.50188765G>A"	""	"pathogenic (dominant)"	""
"0000875827"	"0"	"90"	"17"	"48266123"	"48266123"	"del"	"0"	"04098"	"COL1A1_000337"	"g.48266123del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72653174"	"0"	""	""	"g.50188762del"	""	"pathogenic (dominant)"	""
"0000875828"	"0"	"90"	"17"	"48266120"	"48266120"	"subst"	"0"	"04098"	"COL1A1_000185"	"g.48266120C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653175"	"0"	""	""	"g.50188759C>T"	""	"pathogenic (dominant)"	""
"0000875829"	"0"	"90"	"17"	"48266102"	"48266102"	"subst"	"0"	"04098"	"COL1A1_001479"	"g.48266102C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188741C>T"	""	"pathogenic (dominant)"	""
"0000875830"	"0"	"90"	"17"	"48266000"	"48266000"	"subst"	"0"	"04098"	"COL1A1_001477"	"g.48266000T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188639T>G"	""	"pathogenic (dominant)"	""
"0000875831"	"0"	"90"	"17"	"48266000"	"48266000"	"subst"	"0"	"04098"	"COL1A1_001432"	"g.48266000T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188639T>C"	""	"pathogenic (dominant)"	""
"0000875832"	"0"	"90"	"17"	"48265999"	"48265999"	"subst"	"0"	"04098"	"COL1A1_001476"	"g.48265999C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188638C>T"	""	"pathogenic (dominant)"	""
"0000875833"	"0"	"90"	"17"	"48265984"	"48265984"	"del"	"0"	"04098"	"COL1A1_000735"	"g.48265984del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188623del"	""	"pathogenic (dominant)"	""
"0000875834"	"0"	"90"	"17"	"48265980"	"48265980"	"subst"	"0"	"04098"	"COL1A1_000186"	"g.48265980C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653178"	"0"	""	""	"g.50188619C>T"	""	"pathogenic (dominant)"	""
"0000875835"	"0"	"90"	"17"	"48265980"	"48265980"	"subst"	"0"	"04098"	"COL1A1_000720"	"g.48265980C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188619C>G"	""	"pathogenic (dominant)"	""
"0000875836"	"0"	"90"	"17"	"48265968"	"48265978"	"del"	"0"	"04098"	"COL1A1_000919"	"g.48265968_48265978del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188607_50188617del"	""	"pathogenic (dominant)"	""
"0000875837"	"0"	"90"	"17"	"48265965"	"48265973"	"del"	"0"	"04098"	"COL1A1_000338"	"g.48265965_48265973del"	""	""	""	""	"Deletion of three amino acids in the triple helix domain will cause enequal lengt of strands in the triple helix."	"SUMMARY record"	""	"rs74315149"	"0"	""	""	"g.50188604_50188612del"	""	"pathogenic (dominant)"	""
"0000875838"	"0"	"90"	"17"	"48265963"	"48265963"	"del"	"0"	"04098"	"COL1A1_000967"	"g.48265963del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188602del"	""	"pathogenic (dominant)"	""
"0000875839"	"0"	"90"	"17"	"48265962"	"48265962"	"subst"	"0"	"04098"	"COL1A1_000190"	"g.48265962C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68181905"	"0"	""	""	"g.50188601C>T"	""	"pathogenic (dominant)"	""
"0000875840"	"0"	"90"	"17"	"48265962"	"48265962"	"subst"	"0"	"04098"	"COL1A1_000191"	"g.48265962C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs68181904"	"0"	""	""	"g.50188601C>A"	""	"pathogenic (dominant)"	""
"0000875841"	"0"	"90"	"17"	"48265959"	"48265967"	"del"	"0"	"04098"	"COL1A1_000339"	"g.48265959_48265967del"	""	""	""	""	"Deletion of three amino acids in the triple helix domain will cause enequal lengt of strands in the triple helix."	"SUMMARY record"	""	"rs74315117"	"0"	""	""	"g.50188598_50188606del"	""	"pathogenic (dominant)"	""
"0000875842"	"0"	"90"	"17"	"48265957"	"48265965"	"del"	"0"	"04098"	"COL1A1_000340"	"g.48265957_48265965del"	""	""	""	""	"Deletion of three amino acids in the triple helix domain will cause enequal lengt of strands in the triple helix."	"SUMMARY record"	""	"rs74315151"	"0"	""	""	"g.50188596_50188604del"	""	"pathogenic (dominant)"	""
"0000875843"	"0"	"90"	"17"	"48265953"	"48265953"	"subst"	"0"	"04098"	"COL1A1_000246"	"g.48265953C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67641695"	"0"	""	""	"g.50188592C>T"	""	"pathogenic (dominant)"	""
"0000875844"	"0"	"90"	"17"	"48265944"	"48265944"	"subst"	"0"	"04098"	"COL1A1_000192"	"g.48265944C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72653179"	"0"	""	""	"g.50188583C>T"	""	"pathogenic (dominant)"	""
"0000875845"	"0"	"90"	"17"	"48265944"	"48265944"	"subst"	"0"	"04098"	"COL1A1_001393"	"g.48265944C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188583C>A"	""	"pathogenic (dominant)"	""
"0000875846"	"0"	"90"	"17"	"48265943"	"48265943"	"subst"	"0"	"04098"	"COL1A1_001064"	"g.48265943C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188582C>T"	""	"pathogenic (dominant)"	""
"0000875847"	"0"	"90"	"17"	"48265939"	"48265947"	"del"	"0"	"04098"	"COL1A1_000344"	"g.48265939_48265947del"	""	""	""	""	"Deletion of three amino acids in the triple helix domain will cause enequal lengt of strands in the triple helix."	"SUMMARY record"	""	"rs74315123"	"0"	""	""	"g.50188578_50188586del"	""	"pathogenic (dominant)"	""
"0000875848"	"0"	"90"	"17"	"48265936"	"48265936"	"del"	"0"	"04098"	"COL1A1_000345"	"g.48265936del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72654794"	"0"	""	""	"g.50188575del"	"{ClinVar285398}"	"pathogenic (dominant)"	""
"0000875849"	"0"	"90"	"17"	"48265934"	"48265934"	"subst"	"0"	"04098"	"COL1A1_000491"	"g.48265934C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188573C>T"	""	"pathogenic (dominant)"	""
"0000875850"	"0"	"90"	"17"	"48265933"	"48265933"	"dup"	"0"	"04098"	"COL1A1_000659"	"g.48265933dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188572dup"	""	"pathogenic (dominant)"	""
"0000875851"	"0"	"90"	"17"	"48265926"	"48265926"	"subst"	"0"	"04098"	"COL1A1_000193"	"g.48265926C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72654795"	"0"	""	""	"g.50188565C>T"	""	"pathogenic (dominant)"	""
"0000875852"	"0"	"90"	"17"	"48265920"	"48265920"	"del"	"0"	"04098"	"COL1A1_001171"	"g.48265920del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875853"	"0"	"90"	"17"	"48265917"	"48265917"	"subst"	"0"	"04098"	"COL1A1_000194"	"g.48265917C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72654796"	"0"	""	""	"g.50188556C>T"	""	"pathogenic (dominant)"	""
"0000875854"	"0"	"90"	"17"	"48265916"	"48265916"	"subst"	"0"	"04098"	"COL1A1_000247"	"g.48265916C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72654797"	"0"	""	""	"g.50188555C>T"	""	"pathogenic (dominant)"	""
"0000875855"	"0"	"90"	"17"	"48265907"	"48265907"	"subst"	"0"	"04098"	"COL1A1_000195"	"g.48265907C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72654798"	"0"	""	""	"g.50188546C>G"	""	"pathogenic (dominant)"	""
"0000875856"	"0"	"90"	"17"	"48265897"	"48265897"	"del"	"0"	"04098"	"COL1A1_000346"	"g.48265897del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72654800"	"0"	""	""	"g.50188536del"	""	"pathogenic (dominant)"	""
"0000875857"	"0"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"04098"	"COL1A1_000752"	"g.48265890C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188529C>T"	""	"pathogenic (dominant)"	""
"0000875858"	"0"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"04098"	"COL1A1_001468"	"g.48265890C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188529C>G"	""	"pathogenic (dominant)"	""
"0000875859"	"0"	"90"	"17"	"48265890"	"48265890"	"subst"	"0"	"04098"	"COL1A1_001037"	"g.48265890C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188529C>A"	""	"pathogenic (dominant)"	""
"0000875860"	"0"	"90"	"17"	"48265890"	"48265891"	"del"	"0"	"04098"	"COL1A1_000471"	"g.48265890_48265891del"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188529_50188530del"	""	"pathogenic (dominant)"	""
"0000875861"	"0"	"70"	"17"	"48265889"	"48265889"	"dup"	"0"	"04098"	"COL1A1_001467"	"g.48265889dup"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms"	"SUMMARY record"	""	""	"0"	""	""	"g.50188528dup"	""	"likely pathogenic (dominant)"	""
"0000875862"	"0"	"90"	"17"	"48265889"	"48265889"	"subst"	"0"	"04098"	"COL1A1_001466"	"g.48265889A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188528A>G"	""	"pathogenic (dominant)"	""
"0000875863"	"0"	"70"	"17"	"48265886"	"48265886"	"subst"	"0"	"04098"	"COL1A1_000444"	"g.48265886C>T"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms"	"SUMMARY record"	""	"rs68014162"	"0"	""	""	"g.50188525C>T"	""	"likely pathogenic (dominant)"	""
"0000875864"	"0"	"70"	"17"	"48265886"	"48265886"	"subst"	"0"	"04098"	"COL1A1_000443"	"g.48265886C>A"	""	""	""	""	"loss of splice donor site predicted by 4 different algorytms"	"SUMMARY record"	""	"rs68014162"	"0"	""	""	"g.50188525C>A"	""	"likely pathogenic (dominant)"	""
"0000875865"	"0"	"90"	"17"	"48265884"	"48265890"	"del"	"0"	"04098"	"COL1A1_001465"	"g.48265884_48265890del"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188523_50188529del"	""	"pathogenic (dominant)"	""
"0000875866"	"0"	"30"	"17"	"48265516"	"48265516"	"subst"	"0"	"04098"	"COL1A1_000857"	"g.48265516G>A"	""	""	""	""	"Intronic; no effect on splicing predicted"	"SUMMARY record"	""	"rs1114167397"	"0"	""	""	"g.50188155G>A"	""	"likely benign"	""
"0000875867"	"0"	"90"	"17"	"48265512"	"48265512"	"subst"	"0"	"04098"	"COL1A1_000445"	"g.48265512T>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72654801"	"0"	""	""	"g.50188151T>G"	""	"pathogenic (dominant)"	""
"0000875868"	"0"	"90"	"17"	"48265511"	"48265511"	"subst"	"0"	"04098"	"COL1A1_001240"	"g.48265511C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188150C>T"	""	"pathogenic (dominant)"	""
"0000875869"	"0"	"90"	"17"	"48265511"	"48265511"	"subst"	"0"	"04098"	"COL1A1_001463"	"g.48265511C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188150C>G"	""	"pathogenic (dominant)"	""
"0000875870"	"0"	"90"	"17"	"48265510"	"48265510"	"subst"	"0"	"04098"	"COL1A1_000819"	"g.48265510C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188149C>T"	""	"pathogenic (dominant)"	""
"0000875871"	"0"	"90"	"17"	"48265505"	"48265512"	"del"	"0"	"04098"	"COL1A1_000968"	"g.48265505_48265512del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188144_50188151del"	""	"pathogenic (dominant)"	""
"0000875872"	"0"	"90"	"17"	"48265501"	"48265501"	"subst"	"0"	"04098"	"COL1A1_001226"	"g.48265501C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188140C>T"	""	"pathogenic (dominant)"	""
"0000875873"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"04098"	"COL1A1_000196"	"g.48265492C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67394386"	"0"	""	""	"g.50188131C>T"	""	"pathogenic (dominant)"	""
"0000875874"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"04098"	"COL1A1_000203"	"g.48265492C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67394387"	"0"	""	""	"g.50188131C>A"	""	"pathogenic (dominant)"	""
"0000875875"	"0"	"90"	"17"	"48265483"	"48265483"	"subst"	"0"	"04098"	"COL1A1_000204"	"g.48265483C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72654802"	"0"	""	""	"g.50188122C>T"	""	"pathogenic (dominant)"	""
"0000875876"	"0"	"90"	"17"	"48265483"	"48265483"	"subst"	"0"	"04098"	"COL1A1_000739"	"g.48265483C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50188122C>G"	""	"pathogenic (dominant)"	""
"0000875877"	"0"	"90"	"17"	"48265483"	"48265486"	"del"	"0"	"04098"	"COL1A1_000872"	"g.48265483_48265486del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188122_50188125del"	""	"pathogenic (dominant)"	""
"0000875878"	"0"	"90"	"17"	"48265481"	"48265481"	"del"	"0"	"04098"	"COL1A1_001297"	"g.48265481del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188120del"	""	"pathogenic (dominant)"	""
"0000875879"	"0"	"90"	"17"	"48265477"	"48265477"	"del"	"0"	"04098"	"COL1A1_000523"	"g.48265477del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188116del"	""	"pathogenic (dominant)"	""
"0000875880"	"0"	"10"	"17"	"48265475"	"48265475"	"subst"	"0.00616391"	"04098"	"COL1A1_000509"	"g.48265475A>G"	""	""	""	""	"Synonymous variant and no effect on splicing predicted. Highest MAF (AFR)=1.36%"	"SUMMARY record"	""	"rs1800217"	"0"	""	""	"g.50188114A>G"	""	"benign"	""
"0000875881"	"0"	"90"	"17"	"48265474"	"48265474"	"subst"	"0"	"04098"	"COL1A1_000256"	"g.48265474C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656303"	"0"	""	""	"g.50188113C>A"	""	"pathogenic (dominant)"	""
"0000875882"	"0"	"90"	"17"	"48265465"	"48265465"	"subst"	"0"	"04098"	"COL1A1_000207"	"g.48265465C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656304"	"0"	""	""	"g.50188104C>T"	""	"pathogenic (dominant)"	""
"0000875883"	"0"	"90"	"17"	"48265459"	"48265462"	"delins"	"0"	"04098"	"COL1A1_001152"	"g.48265459_48265462delinsGC"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875884"	"0"	"90"	"17"	"48265456"	"48265456"	"subst"	"0"	"04098"	"COL1A1_000496"	"g.48265456C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188095C>T"	""	"pathogenic (dominant)"	""
"0000875885"	"0"	"90"	"17"	"48265455"	"48265455"	"subst"	"0"	"04098"	"COL1A1_001461"	"g.48265455A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50188094A>G"	""	"pathogenic (dominant)"	""
"0000875886"	"0"	"90"	"17"	"48265345"	"48265345"	"subst"	"0"	"04098"	"COL1A1_001460"	"g.48265345C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187984C>T"	""	"pathogenic (dominant)"	""
"0000875887"	"0"	"90"	"17"	"48265345"	"48265345"	"subst"	"0"	"04098"	"COL1A1_001390"	"g.48265345C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187984C>G"	""	"pathogenic (dominant)"	""
"0000875888"	"0"	"90"	"17"	"48265344"	"48265344"	"subst"	"0"	"04098"	"COL1A1_001236"	"g.48265344C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187983C>A"	""	"pathogenic (dominant)"	""
"0000875889"	"0"	"90"	"17"	"48265343"	"48265343"	"subst"	"0"	"04098"	"COL1A1_000813"	"g.48265343C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187982C>T"	""	"pathogenic (dominant)"	""
"0000875890"	"0"	"90"	"17"	"48265343"	"48265343"	"subst"	"0"	"04098"	"COL1A1_000249"	"g.48265343C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656305"	"0"	""	""	"g.50187982C>G"	""	"pathogenic (dominant)"	""
"0000875891"	"0"	"90"	"17"	"48265343"	"48265343"	"subst"	"0"	"04098"	"COL1A1_001334"	"g.48265343C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187982C>A"	""	"pathogenic (dominant)"	""
"0000875892"	"0"	"90"	"17"	"48265338"	"48265338"	"del"	"0"	"04098"	"COL1A1_001138"	"g.48265338del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875893"	"0"	"90"	"17"	"48265335"	"48265335"	"subst"	"0"	"04098"	"COL1A1_000208"	"g.48265335C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656306"	"0"	""	""	"g.50187974C>T"	""	"pathogenic (dominant)"	""
"0000875894"	"0"	"90"	"17"	"48265333"	"48265333"	"del"	"0"	"04098"	"COL1A1_000747"	"g.48265333del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187972del"	""	"pathogenic (dominant)"	""
"0000875895"	"0"	"90"	"17"	"48265329"	"48265329"	"dup"	"0"	"04098"	"COL1A1_001147"	"g.48265329dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875896"	"0"	"90"	"17"	"48265326"	"48265326"	"subst"	"0"	"04098"	"COL1A1_000492"	"g.48265326C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187965C>T"	""	"pathogenic (dominant)"	""
"0000875897"	"0"	"90"	"17"	"48265321"	"48265322"	"dup"	"0"	"04098"	"COL1A1_000347"	"g.48265321_48265322dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187960_50187961dup"	""	"pathogenic (dominant)"	""
"0000875898"	"0"	"90"	"17"	"48265316"	"48265316"	"subst"	"0"	"04098"	"COL1A1_001156"	"g.48265316C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187955C>A"	""	"pathogenic (dominant)"	""
"0000875899"	"0"	"90"	"17"	"48265307"	"48265307"	"subst"	"0"	"04098"	"COL1A1_000209"	"g.48265307C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656308"	"0"	""	""	"g.50187946C>T"	""	"pathogenic (dominant)"	""
"0000875900"	"0"	"90"	"17"	"48265302"	"48265302"	"subst"	"0"	"04098"	"COL1A1_000896"	"g.48265302G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187941G>A"	""	"pathogenic (dominant)"	""
"0000875901"	"0"	"90"	"17"	"48265297"	"48265297"	"del"	"0"	"04098"	"COL1A1_000969"	"g.48265297del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187936del"	""	"pathogenic (dominant)"	""
"0000875902"	"0"	"90"	"17"	"48265296"	"48265303"	"del"	"0"	"04098"	"COL1A1_000348"	"g.48265296_48265303del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72656309"	"0"	""	""	"g.50187935_50187942del"	""	"pathogenic (dominant)"	""
"0000875903"	"0"	"90"	"17"	"48265293"	"48265293"	"del"	"0"	"04098"	"COL1A1_000349"	"g.48265293del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72656310"	"0"	""	""	"g.50187932del"	""	"pathogenic (dominant)"	""
"0000875904"	"0"	"90"	"17"	"48265289"	"48265289"	"subst"	"0"	"04098"	"COL1A1_000251"	"g.48265289C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656311"	"0"	""	""	"g.50187928C>G"	""	"pathogenic (dominant)"	""
"0000875905"	"0"	"90"	"17"	"48265284"	"48265291"	"del"	"0"	"04098"	"COL1A1_001389"	"g.48265284_48265291del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187923_50187930del"	""	"pathogenic (dominant)"	""
"0000875906"	"0"	"90"	"17"	"48265281"	"48265281"	"subst"	"0"	"04098"	"COL1A1_000679"	"g.48265281C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187920C>T"	""	"pathogenic (dominant)"	""
"0000875907"	"0"	"90"	"17"	"48265278"	"48265278"	"del"	"0"	"04098"	"COL1A1_001280"	"g.48265278del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875908"	"0"	"90"	"17"	"48265257"	"48265257"	"subst"	"0"	"04098"	"COL1A1_000699"	"g.48265257G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187896G>A"	""	"pathogenic (dominant)"	""
"0000875909"	"0"	"90"	"17"	"48265247"	"48265252"	"del"	"0"	"04098"	"COL1A1_000970"	"g.48265247_48265252del"	""	""	""	""	"Deletion of two amino acids in the triple helix domain disrupts triple helix formation"	"SUMMARY record"	""	""	"0"	""	""	"g.50187886_50187891del"	""	"pathogenic (dominant)"	""
"0000875910"	"0"	"90"	"17"	"48265246"	"48265246"	"del"	"0"	"04098"	"COL1A1_000765"	"g.48265246del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187885del"	""	"pathogenic (dominant)"	""
"0000875911"	"0"	"90"	"17"	"48265236"	"48265236"	"subst"	"0"	"04098"	"COL1A1_000527"	"g.48265236C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187875C>T"	""	"pathogenic (dominant)"	""
"0000875912"	"0"	"90"	"17"	"48265236"	"48265236"	"subst"	"0"	"04098"	"COL1A1_001061"	"g.48265236C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187875C>G"	""	"pathogenic (dominant)"	""
"0000875913"	"0"	"90"	"17"	"48265236"	"48265236"	"subst"	"0"	"04098"	"COL1A1_001459"	"g.48265236C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187875C>A"	""	"pathogenic (dominant)"	""
"0000875914"	"0"	"90"	"17"	"48265223"	"48265247"	"del"	"0"	"04098"	"COL1A1_001038"	"g.48265223_48265247del"	""	""	""	""	"Multinucleotide deletion with loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187862_50187886del"	""	"pathogenic (dominant)"	""
"0000875915"	"0"	"90"	"17"	"48264898"	"48264898"	"subst"	"0"	"04098"	"COL1A1_000252"	"g.48264898C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656312"	"0"	""	""	"g.50187537C>A"	""	"pathogenic (dominant)"	""
"0000875916"	"0"	"90"	"17"	"48264888"	"48264888"	"subst"	"0"	"04098"	"COL1A1_001082"	"g.48264888C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187527C>T"	""	"pathogenic (dominant)"	""
"0000875917"	"0"	"90"	"17"	"48264883"	"48264883"	"subst"	"0"	"04098"	"COL1A1_000462"	"g.48264883G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187522G>A"	""	"pathogenic (dominant)"	""
"0000875918"	"0"	"90"	"17"	"48264879"	"48264879"	"subst"	"0"	"04098"	"COL1A1_001591"	"g.48264879C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187518C>T"	""	"pathogenic (dominant)"	""
"0000875919"	"0"	"90"	"17"	"48264870"	"48264870"	"subst"	"0"	"04098"	"COL1A1_001588"	"g.48264870C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187509C>T"	""	"pathogenic (dominant)"	""
"0000875920"	"0"	"90"	"17"	"48264870"	"48264870"	"subst"	"0"	"04098"	"COL1A1_000543"	"g.48264870C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187509C>G"	""	"pathogenic (dominant)"	""
"0000875921"	"0"	"90"	"17"	"48264869"	"48264870"	"del"	"0"	"04098"	"COL1A1_000627"	"g.48264869_48264870del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187508_50187509del"	""	"pathogenic (dominant)"	""
"0000875922"	"0"	"90"	"17"	"48264867"	"48264867"	"del"	"0"	"04098"	"COL1A1_000350"	"g.48264867del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72656313"	"0"	""	""	"g.50187506del"	""	"pathogenic (dominant)"	""
"0000875923"	"0"	"90"	"17"	"48264847"	"48264847"	"subst"	"0"	"04098"	"COL1A1_000253"	"g.48264847G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72656314"	"0"	""	""	"g.50187486G>A"	""	"pathogenic (dominant)"	""
"0000875924"	"0"	"90"	"17"	"48264844"	"48264844"	"subst"	"0"	"04098"	"COL1A1_000446"	"g.48264844C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72656315"	"0"	""	""	"g.50187483C>T"	""	"pathogenic (dominant)"	""
"0000875925"	"0"	"90"	"17"	"48264843"	"48264843"	"subst"	"0"	"04098"	"COL1A1_000497"	"g.48264843A>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187482A>T"	""	"pathogenic (dominant)"	""
"0000875926"	"0"	"90"	"17"	"48264484"	"48264484"	"subst"	"0"	"04098"	"COL1A1_000611"	"g.48264484C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187123C>T"	""	"pathogenic (dominant)"	""
"0000875927"	"0"	"90"	"17"	"48264484"	"48264484"	"subst"	"0"	"04098"	"COL1A1_000498"	"g.48264484C>G"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187123C>G"	""	"pathogenic (dominant)"	""
"0000875928"	"0"	"90"	"17"	"48264483"	"48264483"	"subst"	"0"	"04098"	"COL1A1_000210"	"g.48264483C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656317"	"0"	""	""	"g.50187122C>T"	""	"pathogenic (dominant)"	""
"0000875929"	"0"	"90"	"17"	"48264474"	"48264474"	"subst"	"0"	"04098"	"COL1A1_000766"	"g.48264474C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187113C>T"	""	"pathogenic (dominant)"	""
"0000875930"	"0"	"90"	"17"	"48264474"	"48264474"	"subst"	"0"	"04098"	"COL1A1_000211"	"g.48264474C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656318"	"0"	""	""	"g.50187113C>A"	""	"pathogenic (dominant)"	""
"0000875931"	"0"	"90"	"17"	"48264473"	"48264473"	"subst"	"0"	"04098"	"COL1A1_000212"	"g.48264473C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656319"	"0"	""	""	"g.50187112C>T"	""	"pathogenic (dominant)"	""
"0000875932"	"0"	"90"	"17"	"48264457"	"48264457"	"dup"	"0"	"04098"	"COL1A1_001173"	"g.48264457dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875933"	"0"	"90"	"17"	"48264456"	"48264456"	"subst"	"0"	"04098"	"COL1A1_000257"	"g.48264456C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656320"	"0"	""	""	"g.50187095C>T"	""	"pathogenic (dominant)"	""
"0000875934"	"0"	"90"	"17"	"48264455"	"48264455"	"subst"	"0"	"04098"	"COL1A1_000258"	"g.48264455C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656321"	"0"	""	""	"g.50187094C>A"	""	"pathogenic (dominant)"	""
"0000875935"	"0"	"10"	"17"	"48264448"	"48264448"	"subst"	"0.0130571"	"04098"	"COL1A1_000506"	"g.48264448A>G"	""	""	""	""	"Synonymous variant and no effect on splicing predicted. Highest MAF (SA)=14.7%"	"SUMMARY record"	""	"rs1800218"	"0"	""	""	"g.50187087A>G"	""	"benign"	""
"0000875936"	"0"	"90"	"17"	"48264447"	"48264447"	"subst"	"0"	"04098"	"COL1A1_000259"	"g.48264447C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656322"	"0"	""	""	"g.50187086C>T"	""	"pathogenic (dominant)"	""
"0000875937"	"0"	"90"	"17"	"48264437"	"48264437"	"subst"	"0"	"04098"	"COL1A1_000260"	"g.48264437C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656323"	"0"	""	""	"g.50187076C>T"	""	"pathogenic (dominant)"	""
"0000875938"	"0"	"90"	"17"	"48264430"	"48264430"	"del"	"0"	"04098"	"COL1A1_000522"	"g.48264430del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187069del"	""	"pathogenic (dominant)"	""
"0000875939"	"0"	"90"	"17"	"48264420"	"48264420"	"del"	"0"	"04098"	"COL1A1_001303"	"g.48264420del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187059del"	""	"pathogenic (dominant)"	""
"0000875940"	"0"	"90"	"17"	"48264417"	"48264417"	"del"	"0"	"04098"	"COL1A1_000612"	"g.48264417del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187056del"	""	"pathogenic (dominant)"	""
"0000875941"	"0"	"90"	"17"	"48264416"	"48264433"	"del"	"0"	"04098"	"COL1A1_000351"	"g.48264416_48264433del"	""	""	""	""	"Deletion of six amino acids in the triple helix domain will cause enequal lengt of strands in the triple helix."	"SUMMARY record"	""	"rs74315108"	"0"	""	""	"g.50187055_50187072del"	""	"pathogenic (dominant)"	""
"0000875942"	"0"	"90"	"17"	"48264412"	"48264412"	"del"	"0"	"04098"	"COL1A1_000534"	"g.48264412del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187051del"	""	"pathogenic (dominant)"	""
"0000875943"	"0"	"90"	"17"	"48264411"	"48264411"	"subst"	"0"	"04098"	"COL1A1_000213"	"g.48264411C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656324"	"0"	""	""	"g.50187050C>A"	""	"pathogenic (dominant)"	""
"0000875944"	"0"	"90"	"17"	"48264410"	"48264410"	"subst"	"0"	"04098"	"COL1A1_001425"	"g.48264410C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187049C>G"	""	"pathogenic (dominant)"	""
"0000875945"	"0"	"90"	"17"	"48264402"	"48264402"	"subst"	"0"	"04098"	"COL1A1_000214"	"g.48264402C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67815020"	"0"	""	""	"g.50187041C>T"	""	"pathogenic (dominant)"	""
"0000875946"	"0"	"90"	"17"	"48264402"	"48264402"	"subst"	"0"	"04098"	"COL1A1_000217"	"g.48264402C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67815019"	"0"	""	""	"g.50187041C>A"	""	"pathogenic (dominant)"	""
"0000875947"	"0"	"90"	"17"	"48264393"	"48264393"	"subst"	"0"	"04098"	"COL1A1_000721"	"g.48264393C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187032C>G"	""	"pathogenic (dominant)"	""
"0000875948"	"0"	"90"	"17"	"48264392"	"48264392"	"subst"	"0"	"04098"	"COL1A1_000261"	"g.48264392C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656325"	"0"	""	""	"g.50187031C>T"	""	"pathogenic (dominant)"	""
"0000875949"	"0"	"90"	"17"	"48264384"	"48264384"	"del"	"0"	"04098"	"COL1A1_000924"	"g.48264384del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187023del"	""	"pathogenic (dominant)"	""
"0000875950"	"0"	"90"	"17"	"48264384"	"48264384"	"subst"	"0"	"04098"	"COL1A1_000219"	"g.48264384C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67762345"	"0"	""	""	"g.50187023C>T"	""	"pathogenic (dominant)"	""
"0000875951"	"0"	"90"	"17"	"48264384"	"48264384"	"subst"	"0"	"04098"	"COL1A1_000218"	"g.48264384C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs67762346"	"0"	""	""	"g.50187023C>A"	""	"pathogenic (dominant)"	""
"0000875952"	"0"	"90"	"17"	"48264383"	"48264383"	"subst"	"0"	"04098"	"COL1A1_001039"	"g.48264383C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50187022C>G"	""	"pathogenic (dominant)"	""
"0000875953"	"0"	"90"	"17"	"48264375"	"48264375"	"subst"	"0"	"04098"	"COL1A1_000449"	"g.48264375C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72656326"	"0"	""	""	"g.50187014C>T"	""	"pathogenic (dominant)"	""
"0000875954"	"0"	"90"	"17"	"48264375"	"48264375"	"subst"	"0"	"04098"	"COL1A1_000972"	"g.48264375C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187014C>G"	""	"pathogenic (dominant)"	""
"0000875955"	"0"	"90"	"17"	"48264375"	"48264375"	"subst"	"0"	"04098"	"COL1A1_000987"	"g.48264375C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50187014C>A"	""	"pathogenic (dominant)"	""
"0000875956"	"0"	"90"	"17"	"48264374"	"48264374"	"subst"	"0"	"04098"	"COL1A1_001145"	"g.48264374A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875957"	"0"	"90"	"17"	"48264285"	"48264285"	"subst"	"0"	"04098"	"COL1A1_000654"	"g.48264285T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186924T>C"	""	"pathogenic (dominant)"	""
"0000875958"	"0"	"90"	"17"	"48264285"	"48264287"	"del"	"0"	"04098"	"COL1A1_000450"	"g.48264285_48264287del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	"rs72656328"	"0"	""	""	"g.50186924_50186926del"	""	"pathogenic (dominant)"	""
"0000875959"	"0"	"90"	"17"	"48264284"	"48264284"	"del"	"0"	"04098"	"COL1A1_001076"	"g.48264284del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186923del"	""	"pathogenic (dominant)"	""
"0000875960"	"0"	"90"	"17"	"48264284"	"48264284"	"subst"	"0"	"04098"	"COL1A1_001456"	"g.48264284C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186923C>T"	""	"pathogenic (dominant)"	""
"0000875961"	"0"	"90"	"17"	"48264283"	"48264283"	"subst"	"0"	"04098"	"COL1A1_000807"	"g.48264283C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50186922C>T"	""	"pathogenic (dominant)"	""
"0000875962"	"0"	"90"	"17"	"48264282"	"48264282"	"subst"	"0"	"04098"	"COL1A1_000220"	"g.48264282C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656329"	"0"	""	""	"g.50186921C>A"	""	"pathogenic (dominant)"	""
"0000875963"	"0"	"90"	"17"	"48264280"	"48264280"	"dup"	"0"	"04098"	"COL1A1_000745"	"g.48264280dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186919dup"	""	"pathogenic (dominant)"	""
"0000875964"	"0"	"90"	"17"	"48264280"	"48264280"	"del"	"0"	"04098"	"COL1A1_001454"	"g.48264280del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186919del"	""	"pathogenic (dominant)"	""
"0000875965"	"0"	"90"	"17"	"48264274"	"48264274"	"subst"	"0"	"04098"	"COL1A1_000221"	"g.48264274C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656330"	"0"	""	""	"g.50186913C>T"	""	"pathogenic (dominant)"	""
"0000875966"	"0"	"90"	"17"	"48264273"	"48264282"	"del"	"0"	"04098"	"COL1A1_001146"	"g.48264273_48264282del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875967"	"0"	"90"	"17"	"48264272"	"48264273"	"delins"	"0"	"04098"	"COL1A1_001453"	"g.48264272_48264273delinsTT"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50186911_50186912delinsTT"	""	"pathogenic (dominant)"	""
"0000875968"	"0"	"90"	"17"	"48264264"	"48264264"	"subst"	"0"	"04098"	"COL1A1_000262"	"g.48264264C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656331"	"0"	""	""	"g.50186903C>A"	""	"pathogenic (dominant)"	""
"0000875969"	"0"	"90"	"17"	"48264256"	"48264256"	"del"	"0"	"04098"	"COL1A1_000353"	"g.48264256del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs66948145"	"0"	""	""	"g.50186895del"	""	"pathogenic (dominant)"	""
"0000875970"	"0"	"90"	"17"	"48264256"	"48264256"	"subst"	"0"	"04098"	"COL1A1_000222"	"g.48264256C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs72656332"	"0"	""	""	"g.50186895C>T"	""	"pathogenic (dominant)"	""
"0000875971"	"0"	"90"	"17"	"48264256"	"48264256"	"subst"	"0"	"04098"	"COL1A1_000834"	"g.48264256C>G"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50186895C>G"	""	"pathogenic (dominant)"	""
"0000875972"	"0"	"90"	"17"	"48264256"	"48264256"	"subst"	"0"	"04098"	"COL1A1_001125"	"g.48264256C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875973"	"0"	"90"	"17"	"48264255"	"48264255"	"subst"	"0"	"04098"	"COL1A1_000263"	"g.48264255C>A"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	"rs66948146"	"0"	""	""	"g.50186894C>A"	""	"pathogenic (dominant)"	""
"0000875974"	"0"	"90"	"17"	"48264253"	"48264253"	"del"	"0"	"04098"	"COL1A1_000613"	"g.48264253del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186892del"	""	"pathogenic (dominant)"	""
"0000875975"	"0"	"90"	"17"	"48264251"	"48264259"	"dup"	"0"	"04098"	"COL1A1_000352"	"g.48264251_48264259dup"	""	""	""	""	"Duplication of one GlyXY triplet in the triple helix domain will create unequal end of the triple helix."	"SUMMARY record"	""	""	"0"	""	""	"g.50186890_50186898dup"	""	"pathogenic (dominant)"	""
"0000875976"	"0"	"90"	"17"	"48264248"	"48264248"	"del"	"0"	"04098"	"COL1A1_000788"	"g.48264248del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186887del"	""	"pathogenic (dominant)"	""
"0000875977"	"0"	"90"	"17"	"48264246"	"48264246"	"subst"	"0"	"04098"	"COL1A1_000531"	"g.48264246C>T"	""	""	""	""	"Substitutions of Gly in the first position of a GlyXY triplet in the triple helix domain will always disrupt triple helix formation and are considered to be pathogenic"	"SUMMARY record"	""	""	"0"	""	""	"g.50186885C>T"	""	"pathogenic (dominant)"	""
"0000875978"	"0"	"90"	"17"	"48264236"	"48264237"	"del"	"0"	"04098"	"COL1A1_000354"	"g.48264236_48264237del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72656333"	"0"	""	""	"g.50186875_50186876del"	""	"pathogenic (dominant)"	""
"0000875979"	"0"	"90"	"17"	"48264232"	"48264232"	"del"	"0"	"04098"	"COL1A1_000355"	"g.48264232del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72656335"	"0"	""	""	"g.50186871del"	""	"pathogenic (dominant)"	""
"0000875980"	"0"	"90"	"17"	"48264225"	"48264226"	"del"	"0"	"04098"	"COL1A1_000356"	"g.48264225_48264226del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72656336"	"0"	""	""	"g.50186864_50186865del"	""	"pathogenic (dominant)"	""
"0000875981"	"0"	"90"	"17"	"48264208"	"48264208"	"subst"	"0"	"04098"	"COL1A1_000538"	"g.48264208G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186847G>A"	""	"pathogenic (dominant)"	""
"0000875982"	"0"	"90"	"17"	"48264199"	"48264199"	"subst"	"0"	"04098"	"COL1A1_000846"	"g.48264199G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186838G>A"	""	"pathogenic (dominant)"	""
"0000875983"	"0"	"90"	"17"	"48264177"	"48264177"	"del"	"0"	"04098"	"COL1A1_001282"	"g.48264177del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000875984"	"0"	"90"	"17"	"48264169"	"48264169"	"del"	"0"	"04098"	"COL1A1_001081"	"g.48264169del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186808del"	""	"pathogenic (dominant)"	""
"0000875985"	"0"	"90"	"17"	"48264162"	"48264162"	"del"	"0"	"04098"	"COL1A1_000530"	"g.48264162del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186801del"	""	"pathogenic (dominant)"	""
"0000875986"	"0"	"90"	"17"	"48264155"	"48264163"	"del"	"0"	"04098"	"COL1A1_000357"	"g.48264155_48264163del"	""	""	""	""	"Deletion of three highly conserved amina acids in highly conserved domain"	"SUMMARY record"	""	"rs74315149"	"0"	""	""	"g.50186794_50186802del"	""	"pathogenic (dominant)"	""
"0000875987"	"0"	"90"	"17"	"48264117"	"48264117"	"dup"	"0"	"04098"	"COL1A1_000791"	"g.48264117dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186756dup"	""	"pathogenic (dominant)"	""
"0000875988"	"0"	"90"	"17"	"48264097"	"48264097"	"subst"	"0"	"04098"	"COL1A1_000973"	"g.48264097G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186736G>A"	""	"pathogenic (dominant)"	""
"0000875989"	"0"	"90"	"17"	"48264088"	"48264088"	"subst"	"0"	"04098"	"COL1A1_001040"	"g.48264088C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186727C>A"	""	"pathogenic (dominant)"	""
"0000875990"	"0"	"90"	"17"	"48264071"	"48264077"	"del"	"0"	"04098"	"COL1A1_000792"	"g.48264071_48264077del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186710_50186716del"	""	"pathogenic (dominant)"	""
"0000875991"	"0"	"90"	"17"	"48264068"	"48264068"	"del"	"0"	"04098"	"COL1A1_000990"	"g.48264068del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186707del"	""	"pathogenic (dominant)"	""
"0000875992"	"0"	"90"	"17"	"48264065"	"48264069"	"dup"	"0"	"04098"	"COL1A1_000885"	"g.48264065_48264069dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186704_50186708dup"	""	"pathogenic (dominant)"	""
"0000875993"	"0"	"90"	"17"	"48264058"	"48264058"	"dup"	"0"	"04098"	"COL1A1_001075"	"g.48264058dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186697dup"	""	"pathogenic (dominant)"	""
"0000875994"	"0"	"90"	"17"	"48264056"	"48264056"	"del"	"0"	"04098"	"COL1A1_001304"	"g.48264056del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186695del"	""	"pathogenic (dominant)"	""
"0000875995"	"0"	"90"	"17"	"48264053"	"48264053"	"del"	"0"	"04098"	"COL1A1_000793"	"g.48264053del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186692del"	""	"pathogenic (dominant)"	""
"0000875996"	"0"	"90"	"17"	"48264049"	"48264049"	"del"	"0"	"04098"	"COL1A1_000794"	"g.48264049del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186688del"	""	"pathogenic (dominant)"	""
"0000875997"	"0"	"90"	"17"	"48264028"	"48264028"	"del"	"0"	"04098"	"COL1A1_000856"	"g.48264028del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186667del"	""	"pathogenic (dominant)"	""
"0000875998"	"0"	"90"	"17"	"48264025"	"48264025"	"subst"	"0"	"04098"	"COL1A1_000267"	"g.48264025T>C"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs72656340"	"0"	""	""	"g.50186664T>C"	""	"pathogenic (dominant)"	""
"0000875999"	"0"	"90"	"17"	"48264024"	"48264036"	"del"	"0"	"04098"	"COL1A1_000358"	"g.48264024_48264036del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	"rs74315166"	"0"	""	""	"g.50186663_50186675del"	""	"pathogenic (dominant)"	""
"0000876000"	"0"	"90"	"17"	"48264012"	"48264015"	"del"	"0"	"04098"	"COL1A1_000795"	"g.48264012_48264015del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186651_50186654del"	""	"pathogenic (dominant)"	""
"0000876001"	"0"	"90"	"17"	"48264009"	"48264009"	"subst"	"0"	"04098"	"COL1A1_000268"	"g.48264009C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72656341"	"0"	""	""	"g.50186648C>T"	""	"pathogenic (dominant)"	""
"0000876002"	"0"	"90"	"17"	"48264008"	"48264008"	"subst"	"0"	"04098"	"COL1A1_000551"	"g.48264008C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186647C>T"	""	"pathogenic (dominant)"	""
"0000876003"	"0"	"90"	"17"	"48264000"	"48264000"	"subst"	"0"	"04098"	"COL1A1_001451"	"g.48264000C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186639C>G"	""	"pathogenic (dominant)"	""
"0000876004"	"0"	"90"	"17"	"48263999"	"48263999"	"subst"	"0"	"04098"	"COL1A1_001450"	"g.48263999A>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186638A>G"	""	"pathogenic (dominant)"	""
"0000876005"	"0"	"90"	"17"	"48263999"	"48263999"	"subst"	"0"	"04098"	"COL1A1_001135"	"g.48263999A>C"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186638A>C"	""	"pathogenic (dominant)"	""
"0000876006"	"0"	"90"	"17"	"48263870"	"48263870"	"subst"	"0"	"04098"	"COL1A1_001127"	"g.48263870T>C"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876007"	"0"	"90"	"17"	"48263869"	"48263869"	"subst"	"0"	"04098"	"COL1A1_001309"	"g.48263869C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186508C>T"	""	"pathogenic (dominant)"	""
"0000876008"	"0"	"90"	"17"	"48263859"	"48263859"	"subst"	"0"	"04098"	"COL1A1_000470"	"g.48263859C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186498C>T"	""	"pathogenic (dominant)"	""
"0000876009"	"0"	"90"	"17"	"48263858"	"48263858"	"subst"	"0"	"04098"	"COL1A1_000974"	"g.48263858C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186497C>T"	""	"pathogenic (dominant)"	""
"0000876010"	"0"	"90"	"17"	"48263847"	"48263850"	"del"	"0"	"04098"	"COL1A1_001606"	"g.48263847_48263850del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186486_50186489del"	""	"pathogenic (dominant)"	""
"0000876011"	"0"	"90"	"17"	"48263845"	"48263845"	"subst"	"0"	"04098"	"COL1A1_000518"	"g.48263845G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186484G>A"	""	"pathogenic (dominant)"	""
"0000876012"	"0"	"90"	"17"	"48263798"	"48263798"	"del"	"0"	"04098"	"COL1A1_001115"	"g.48263798del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876013"	"0"	"90"	"17"	"48263792"	"48263801"	"del"	"0"	"04098"	"COL1A1_001168"	"g.48263792_48263801del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876014"	"0"	"90"	"17"	"48263786"	"48263786"	"subst"	"0"	"04098"	"COL1A1_000769"	"g.48263786G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186425G>T"	""	"pathogenic (dominant)"	""
"0000876015"	"0"	"90"	"17"	"48263783"	"48263783"	"del"	"0"	"04098"	"COL1A1_001385"	"g.48263783del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186422del"	""	"pathogenic (dominant)"	""
"0000876016"	"0"	"90"	"17"	"48263773"	"48263773"	"subst"	"0"	"04098"	"COL1A1_000524"	"g.48263773G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186412G>A"	""	"pathogenic (dominant)"	""
"0000876017"	"0"	"90"	"17"	"48263758"	"48263758"	"subst"	"0"	"04098"	"COL1A1_000664"	"g.48263758G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186397G>A"	""	"pathogenic (dominant)"	""
"0000876018"	"0"	"90"	"17"	"48263748"	"48263748"	"subst"	"0"	"04098"	"COL1A1_000749"	"g.48263748C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186387C>T"	""	"pathogenic (dominant)"	""
"0000876019"	"0"	"90"	"17"	"48263714"	"48263714"	"dup"	"0"	"04098"	"COL1A1_000359"	"g.48263714dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186353dup"	""	"pathogenic (dominant)"	""
"0000876020"	"0"	"90"	"17"	"48263709"	"48263709"	"subst"	"0"	"04098"	"COL1A1_000275"	"g.48263709C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72656345"	"0"	""	""	"g.50186348C>T"	""	"pathogenic (dominant)"	""
"0000876021"	"0"	"90"	"17"	"48263708"	"48263708"	"subst"	"0"	"04098"	"COL1A1_000976"	"g.48263708C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186347C>T"	""	"pathogenic (dominant)"	""
"0000876022"	"0"	"90"	"17"	"48263696"	"48263696"	"del"	"0"	"04098"	"COL1A1_000796"	"g.48263696del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186335del"	""	"pathogenic (dominant)"	""
"0000876023"	"0"	"90"	"17"	"48263677"	"48263677"	"subst"	"0"	"04098"	"COL1A1_001444"	"g.48263677C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186316C>T"	""	"pathogenic (dominant)"	""
"0000876024"	"0"	"90"	"17"	"48263677"	"48263677"	"subst"	"0"	"04098"	"COL1A1_001443"	"g.48263677C>G"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186316C>G"	""	"pathogenic (dominant)"	""
"0000876025"	"0"	"90"	"17"	"48263677"	"48263677"	"subst"	"0"	"04098"	"COL1A1_000656"	"g.48263677C>A"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186316C>A"	""	"pathogenic (dominant)"	""
"0000876026"	"0"	"70"	"17"	"48263673"	"48263673"	"subst"	"6.50576E-5"	"04098"	"COL1A1_001442"	"g.48263673C>T"	""	""	""	""	"Weaker splice site predicted by 4/4 algorithms"	"SUMMARY record"	""	"rs778417218"	"0"	""	""	"g.50186312C>T"	""	"likely pathogenic (dominant)"	""
"0000876027"	"0"	"10"	"17"	"48263414"	"48263414"	"subst"	"0.00056177"	"04098"	"COL1A1_001441"	"g.48263414C>T"	""	""	""	""	"Intronic; no effect on splicing predicted"	"SUMMARY record"	""	"rs201920224"	"0"	""	""	"g.50186053C>T"	""	"benign"	""
"0000876028"	"0"	"90"	"17"	"48263382"	"48263382"	"subst"	"0"	"04098"	"COL1A1_000921"	"g.48263382C>T"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186021C>T"	""	"pathogenic (dominant)"	""
"0000876029"	"0"	"90"	"17"	"48263378"	"48263378"	"subst"	"0"	"04098"	"COL1A1_000797"	"g.48263378C>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186017C>A"	""	"pathogenic (dominant)"	""
"0000876030"	"0"	"90"	"17"	"48263374"	"48263379"	"del"	"0"	"04098"	"COL1A1_000361"	"g.48263374_48263379del"	""	""	""	""	"Deletion of two amino acids in the triple helix domain disrupts triple helix formation"	"SUMMARY record"	""	"rs72656346"	"0"	""	""	"g.50186013_50186018del"	""	"pathogenic (dominant)"	""
"0000876031"	"0"	"90"	"17"	"48263373"	"48263373"	"subst"	"0"	"04098"	"COL1A1_001109"	"g.48263373A>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876032"	"0"	"90"	"17"	"48263366"	"48263366"	"subst"	"0"	"04098"	"COL1A1_000770"	"g.48263366G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50186005G>A"	""	"pathogenic (dominant)"	""
"0000876033"	"0"	"90"	"17"	"48263336"	"48263336"	"subst"	"0"	"04098"	"COL1A1_000977"	"g.48263336G>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185975G>A"	""	"pathogenic (dominant)"	""
"0000876034"	"0"	"90"	"17"	"48263333"	"48263333"	"del"	"0"	"04098"	"COL1A1_000360"	"g.48263333del"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	"rs72656347"	"0"	""	""	"g.50185972del"	""	"pathogenic (dominant)"	""
"0000876035"	"0"	"90"	"17"	"48263283"	"48263283"	"subst"	"0"	"04098"	"COL1A1_001440"	"g.48263283G>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185922G>T"	""	"pathogenic (dominant)"	""
"0000876036"	"0"	"90"	"17"	"48263283"	"48263283"	"subst"	"0"	"04098"	"COL1A1_000862"	"g.48263283G>C"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185922G>C"	""	"pathogenic (dominant)"	""
"0000876037"	"0"	"90"	"17"	"48263283"	"48263283"	"del"	"0"	"04098"	"COL1A1_000798"	"g.48263283del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185922del"	""	"pathogenic (dominant)"	""
"0000876038"	"0"	"10"	"17"	"48263274"	"48263274"	"subst"	"0.00135661"	"04098"	"COL1A1_000512"	"g.48263274C>T"	""	""	""	""	"Synonymous variant and no effect on splicing predicted. Highest MAF (AFR)=1.91%"	"SUMMARY record"	""	"rs41316723"	"0"	""	""	"g.50185913C>T"	""	"benign"	""
"0000876039"	"0"	"90"	"17"	"48263231"	"48263231"	"subst"	"0"	"04098"	"COL1A1_000979"	"g.48263231T>A"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185870T>A"	""	"pathogenic (dominant)"	""
"0000876040"	"0"	"90"	"17"	"48263152"	"48263160"	"del"	"0"	"04098"	"COL1A1_000900"	"g.48263152_48263160del"	""	""	""	""	"Deletion of three highly conserved amina acids in highly conserved domain"	"SUMMARY record"	""	""	"0"	""	""	"g.50185791_50185799del"	""	"pathogenic (dominant)"	""
"0000876041"	"0"	"90"	"17"	"48263141"	"48263151"	"dup"	"0"	"04098"	"COL1A1_000681"	"g.48263141_48263151dup"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185780_50185790dup"	""	"pathogenic (dominant)"	""
"0000876042"	"0"	"90"	"17"	"48263140"	"48263140"	"del"	"0"	"04098"	"COL1A1_000704"	"g.48263140del"	""	""	""	""	"all possible effects of frameshift variants are known pathogenic mechanisms in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185779del"	""	"pathogenic (dominant)"	""
"0000876043"	"0"	"90"	"17"	"48263138"	"48263138"	"subst"	"0"	"04098"	"COL1A1_001169"	"g.48263138C>T"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876044"	"0"	"90"	"17"	"48263137"	"48263144"	"delins"	"0"	"04098"	"COL1A1_001047"	"g.48263137_48263144delinsTG"	""	""	""	""	"Loss of canonical splice donor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185776_50185783delinsTG"	""	"pathogenic (dominant)"	""
"0000876045"	"0"	"70"	"17"	"48263022"	"48263040"	"del"	"0"	"04098"	"COL1A1_001151"	"g.48263022_48263040del"	""	""	""	""	"Loss of splice accepto site predicted by 3 of 4 alhorithms"	"SUMMARY record"	""	""	"0"	""	""	"g.50185661_50185679del"	""	"likely pathogenic (dominant)"	""
"0000876046"	"0"	"90"	"17"	"48263011"	"48263011"	"del"	"0"	"04098"	"COL1A1_001438"	"g.48263011del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185650del"	""	"pathogenic (dominant)"	""
"0000876047"	"0"	"90"	"17"	"48263011"	"48263013"	"del"	"0"	"04098"	"COL1A1_000980"	"g.48263011_48263013del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.50185650_50185652del"	""	"pathogenic (dominant)"	""
"0000876048"	"0"	"90"	"17"	"48263011"	"48263012"	"del"	"0"	"04098"	"COL1A1_001133"	"g.48263011_48263012del"	""	""	""	""	"Loss of canonical splice acceptor site. All possible effects are pathogenic in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876049"	"0"	"90"	"17"	"48263010"	"48263011"	"del"	"0"	"04098"	"COL1A1_001067"	"g.48263010_48263011del"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185649_50185650del"	""	"pathogenic (dominant)"	""
"0000876050"	"0"	"30"	"17"	"48263001"	"48263001"	"subst"	"0.000644018"	"04098"	"COL1A1_000514"	"g.48263001G>A"	""	""	""	""	"Synonymous variant and no effect on splicing predicted"	"SUMMARY record"	""	"rs144134990"	"0"	""	""	"g.50185640G>A"	""	"likely benign"	""
"0000876051"	"0"	"90"	"17"	"48262993"	"48262993"	"subst"	"0"	"04098"	"COL1A1_000799"	"g.48262993C>T"	""	""	""	""	"Nonsense variants are a known pathogenic mechanism in COL1A1. This variant is in the last exon end will lead to truncated protein and not to NMD.  The stop removes Cys residues that are essentila for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185632C>T"	""	"pathogenic (dominant)"	""
"0000876052"	"0"	"10"	"17"	"48262977"	"48262977"	"subst"	"0.000986524"	"04098"	"COL1A1_000558"	"g.48262977A>G"	""	""	""	""	"Synonymous variant and no effect on splicing predicted. Highest MAF (AFR)=2.12%"	"SUMMARY record"	""	"rs41316725"	"0"	""	""	"g.50185616A>G"	""	"benign"	""
"0000876053"	"0"	"90"	"17"	"48262970"	"48262970"	"dup"	"0"	"04098"	"COL1A1_000981"	"g.48262970dup"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185609dup"	""	"pathogenic (dominant)"	""
"0000876054"	"0"	"50"	"17"	"48262962"	"48262962"	"subst"	"0"	"04098"	"COL1A1_000556"	"g.48262962G>T"	""	""	""	""	"Synonymous variant; possible effect on exon skipping due to loss of ESEs."	"SUMMARY record"	""	"rs1059475"	"0"	""	""	"g.50185601G>T"	""	"VUS"	""
"0000876055"	"0"	"90"	"17"	"48262949"	"48262950"	"ins"	"0"	"04098"	"COL1A1_000780"	"g.48262949_48262950insT"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185588_50185589insT"	""	"pathogenic (dominant)"	""
"0000876056"	"0"	"90"	"17"	"48262930"	"48262930"	"dup"	"0"	"04098"	"COL1A1_000858"	"g.48262930dup"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185569dup"	""	"pathogenic (dominant)"	""
"0000876057"	"0"	"90"	"17"	"48262927"	"48262928"	"ins"	"0"	"04098"	"COL1A1_001099"	"g.48262927_48262928insGGGCCACATCCTT"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876058"	"0"	"90"	"17"	"48262925"	"48262931"	"delins"	"0"	"04098"	"COL1A1_000809"	"g.48262925_48262931delinsTCCAG"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185564_50185570delinsTCCAG"	""	"pathogenic (dominant)"	""
"0000876059"	"0"	"90"	"17"	"48262920"	"48262920"	"dup"	"0"	"04098"	"COL1A1_000362"	"g.48262920dup"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185559dup"	""	"pathogenic (dominant)"	""
"0000876060"	"0"	"90"	"17"	"48262918"	"48262929"	"delins"	"0"	"04098"	"COL1A1_000284"	"g.48262918_48262929delinsGACCTGGTCT"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185557_50185568delinsGACCTGGTCT"	""	"pathogenic (dominant)"	""
"0000876061"	"0"	"90"	"17"	"48262906"	"48262906"	"dup"	"0"	"04098"	"COL1A1_001055"	"g.48262906dup"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185545dup"	""	"pathogenic (dominant)"	""
"0000876062"	"0"	"90"	"17"	"48262896"	"48262900"	"del"	"0"	"04098"	"COL1A1_000363"	"g.48262896_48262900del"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	"rs72656352"	"0"	""	""	"g.50185535_50185539del"	"{ClinVar17307}"	"pathogenic (dominant)"	""
"0000876063"	"0"	"90"	"17"	"48262894"	"48262928"	"del"	"0"	"04098"	"COL1A1_000800"	"g.48262894_48262928del"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185533_50185567del"	""	"pathogenic (dominant)"	""
"0000876064"	"0"	"90"	"17"	"48262894"	"48262919"	"del"	"0"	"04098"	"COL1A1_001122"	"g.48262894_48262919del"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000876065"	"0"	"90"	"17"	"48262872"	"48262872"	"del"	"0"	"04098"	"COL1A1_000874"	"g.48262872del"	""	""	""	""	"a frameshift in the last exon does not lead to NMD, but to a truncated protein. This variant removes Cys residues that are essential for interchain crosslinks."	"SUMMARY record"	""	""	"0"	""	""	"g.50185511del"	""	"pathogenic (dominant)"	""
"0000876066"	"0"	"10"	"17"	"48262636"	"48262637"	"dup"	"0"	"04098"	"COL1A1_001331"	"g.48262636_48262637dup"	""	""	""	""	"duplication in 3\'UTR in long stretch of A\'s. Benign."	"SUMMARY record"	""	""	"0"	""	""	"g.50185275_50185276dup"	""	"benign"	""
"0000876067"	"0"	"59"	"17"	"48267219"	"48278771"	"del"	"0"	"04098"	"COL1A1_000753"	"g.(48277309_48278771)_(48267094_48267219)del"	""	""	""	""	"multi-exon deletion with frameshift and NMD"	"SUMMARY record"	""	""	"0"	""	""	"g.(50199948_50201410)_(50189733_50189858)del"	""	"pathogenic (dominant)"	""
"0000876068"	"0"	"90"	"17"	"48272407"	"48274425"	"del"	"0"	"04098"	"COL1A1_000626"	"g.(48272190_48272407)_(48274425_48274540)del"	""	""	""	""	"Multi-exon deletin with in-frame effect; exon 11_20"	"SUMMARY record"	""	""	"0"	""	""	"g.(50194829_50195046)_(50197064_50197179)del"	""	"pathogenic (dominant)"	""
"0000876069"	"0"	"90"	"17"	"48266263"	"48275866"	"del"	"0"	"04098"	"COL1A1_000754"	"g.(48266157_48266263)_(48275866_48276586)del"	""	""	""	""	"Multi-exon deletin with in-frame effect; exon 6_41"	"SUMMARY record"	""	""	"0"	""	""	"g.(50188796_50188902)_(50198505_50199225)del"	""	"pathogenic (dominant)"	""
"0000876070"	"0"	"90"	"17"	"48265890"	"48279000"	"dup"	"0"	"04098"	"COL1A1_001137"	"g.(48265511_48265890)_(48279000_?)dup"	""	""	""	""	"multi-exon deletion encompassing exon 1; haploinsufficiency is a known dominant pathogenic mechanism in COL1A1"	"SUMMARY record"	""	""	"0"	""	""	"g.(50188150_50188529)_(50201639_?)dup"	""	"pathogenic (dominant)"	""
"0000876071"	"0"	"90"	"17"	"48264375"	"48266900"	"del"	"0"	"04098"	"COL1A1_000499"	"g.(48264284_48264375)_(48266900_48267039)del"	""	""	""	""	"multi-exon deletion with in-frame effect. This results in a short protein that will not fit in fibrils"	"SUMMARY record"	""	""	"0"	""	""	"g.(50186923_50187014)_(50189539_50189678)del"	""	"pathogenic (dominant)"	""
"0000876072"	"0"	"90"	"17"	"48261457"	"48279000"	"del"	"0"	"04098"	"COL1A1_000617"	"g.(?_48261457)_(48279000_?)del"	""	""	""	""	"whole gene deletion; haploinsufficiency is a known dominant pathogenic mechanism in COL1A2"	"SUMMARY record"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic (dominant)"	""
"0000876073"	"0"	"90"	"17"	"0"	"0"	""	"0"	"04098"	"COL1A1_000992"	"g.?"	""	""	""	""	"multi-exon deletion encompassing exon 1; haploinsufficiency is a known dominant pathogenic mechanism in COL1A2"	"SUMMARY record"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000877395"	"0"	"90"	"17"	"48272089"	"48272089"	"subst"	"0"	"04298"	"COL1A1_001640"	"g.48272089C>G"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000877396"	"0"	"90"	"17"	"48275136"	"48275136"	"subst"	"0"	"04298"	"COL1A1_001648"	"g.48275136C>A"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877397"	"0"	"90"	"17"	"48268236"	"48268236"	"del"	"0"	"04298"	"COL1A1_001633"	"g.48268236del"	""	"{PMID:Li 2019:30614853}"	""	"285delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190875del"	""	"pathogenic (dominant)"	""
"0000877398"	"0"	"90"	"17"	"48265943"	"48265943"	"subst"	"0"	"04298"	"COL1A1_001623"	"g.48265943C>G"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877399"	"0"	"90"	"17"	"48268187"	"48268187"	"del"	"0"	"04298"	"COL1A1_001632"	"g.48268187del"	""	"{PMID:Li 2019:30614853}"	""	"2334delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190826del"	""	"pathogenic (dominant)"	""
"0000877400"	"0"	"90"	"17"	"48264000"	"48264000"	"subst"	"0"	"04298"	"COL1A1_001617"	"g.48264000C>A"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877401"	"0"	"90"	"17"	"48273008"	"48273008"	"del"	"0"	"04298"	"COL1A1_001643"	"g.48273008del"	""	"{PMID:Li 2019:30614853}"	""	"1077delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195647del"	""	"pathogenic (dominant)"	""
"0000877402"	"0"	"90"	"17"	"48274023"	"48274024"	"del"	"0"	"04298"	"COL1A1_001645"	"g.48274023_48274024del"	""	"{PMID:Li 2019:30614853}"	""	"813_814delTG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50196662_50196663del"	""	"pathogenic (dominant)"	""
"0000877403"	"0"	"90"	"17"	"48271813"	"48271813"	"subst"	"0"	"04298"	"COL1A1_001639"	"g.48271813T>C"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877404"	"0"	"90"	"17"	"48271800"	"48271800"	"del"	"0"	"04298"	"COL1A1_001638"	"g.48271800del"	""	"{PMID:Li 2019:30614853}"	""	"1524delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194439del"	""	"pathogenic (dominant)"	""
"0000877405"	"0"	"90"	"17"	"48266138"	"48266139"	"del"	"0"	"04298"	"COL1A1_001625"	"g.48266138_48266139del"	""	"{PMID:Li 2019:30614853}"	""	"3063_3064delAG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188777_50188778del"	""	"pathogenic (dominant)"	""
"0000877406"	"0"	"90"	"17"	"48264182"	"48264182"	"dup"	"0"	"04298"	"COL1A1_001618"	"g.48264182dup"	""	"{PMID:Li 2019:30614853}"	""	"3633dupT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186821dup"	""	"pathogenic (dominant)"	""
"0000877407"	"0"	"90"	"17"	"48264188"	"48264188"	"del"	"0"	"04298"	"COL1A1_001619"	"g.48264188del"	""	"{PMID:Li 2019:30614853}"	""	"3627delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186827del"	""	"pathogenic (dominant)"	""
"0000877408"	"0"	"90"	"17"	"48267439"	"48267439"	"subst"	"8.13498E-6"	"04298"	"COL1A1_001629"	"g.48267439C>T"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877409"	"0"	"90"	"17"	"48277127"	"48277127"	"dup"	"0"	"04298"	"COL1A1_001655"	"g.48277127dup"	""	"{PMID:Li 2019:30614853}"	""	"284_285insC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199766dup"	""	"pathogenic (dominant)"	""
"0000877410"	"0"	"90"	"17"	"48274426"	"48274426"	"subst"	"0"	"04298"	"COL1A1_001647"	"g.48274426T>G"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877411"	"0"	"90"	"17"	"48275137"	"48275137"	"subst"	"0"	"04298"	"COL1A1_001649"	"g.48275137C>T"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877412"	"0"	"90"	"17"	"48275348"	"48275348"	"subst"	"0"	"04298"	"COL1A1_001650"	"g.48275348G>A"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877413"	"0"	"90"	"17"	"48272135"	"48272135"	"subst"	"0"	"04298"	"COL1A1_001641"	"g.48272135C>A"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877414"	"0"	"90"	"17"	"48266735"	"48266735"	"del"	"0"	"04298"	"COL1A1_001626"	"g.48266735del"	""	"{PMID:Li 2019:30614853}"	""	"2829+4delA"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189374del"	""	"pathogenic (dominant)"	""
"0000877415"	"0"	"90"	"17"	"48269386"	"48269386"	"del"	"0"	"04298"	"COL1A1_001634"	"g.48269386del"	""	"{PMID:Li 2019:30614853}"	""	"1985delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50192025del"	""	"pathogenic (dominant)"	""
"0000877416"	"0"	"90"	"17"	"48265463"	"48265463"	"del"	"0"	"04298"	"COL1A1_001621"	"g.48265463del"	""	"{PMID:Li 2019:30614853}"	""	"3258delC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188102del"	""	"pathogenic (dominant)"	""
"0000877417"	"0"	"90"	"17"	"48273521"	"48273521"	"del"	"0"	"04298"	"COL1A1_001656"	"g.48273521del"	""	"{PMID:Li 2019:30614853}"	""	"1001delC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50196160del"	""	"pathogenic (dominant)"	""
"0000877418"	"0"	"90"	"17"	"48263785"	"48263785"	"del"	"0"	"04298"	"COL1A1_001616"	"g.48263785del"	""	"{PMID:Li 2019:30614853}"	""	"3898delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50186424del"	""	"pathogenic (dominant)"	""
"0000877419"	"0"	"90"	"17"	"48270009"	"48270009"	"del"	"0"	"04298"	"COL1A1_001635"	"g.48270009del"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50192648del"	""	"pathogenic (dominant)"	""
"0000877420"	"0"	"90"	"17"	"48265502"	"48265511"	"del"	"0"	"04298"	"COL1A1_001622"	"g.48265502_48265511del"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188141_50188150del"	""	"pathogenic (dominant)"	""
"0000877421"	"0"	"90"	"17"	"48272171"	"48272171"	"del"	"0"	"04298"	"COL1A1_001642"	"g.48272171del"	""	"{PMID:Li 2019:30614853}"	""	"1373delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194810del"	""	"pathogenic (dominant)"	""
"0000877422"	"0"	"90"	"17"	"48274405"	"48274405"	"subst"	"0"	"04298"	"COL1A1_001646"	"g.48274405C>T"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877423"	"0"	"90"	"17"	"48276622"	"48276622"	"dup"	"0"	"04298"	"COL1A1_001652"	"g.48276622dup"	""	"{PMID:Li 2019:30614853}"	""	"c.441_442insC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199261dup"	""	"pathogenic (dominant)"	""
"0000877424"	"0"	"90"	"17"	"48271733"	"48271733"	"subst"	"0"	"04298"	"COL1A1_001637"	"g.48271733C>T"	""	"{PMID:Li 2019:30614853}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877425"	"0"	"90"	"17"	"48276671"	"48276671"	"del"	"0"	"04298"	"COL1A1_001653"	"g.48276671del"	""	"{PMID:Ohata 2019:31363794}"	""	"387delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199310del"	""	"pathogenic (dominant)"	""
"0000877426"	"0"	"90"	"17"	"48275842"	"48275842"	"subst"	"0"	"04298"	"COL1A1_001651"	"g.48275842A>C"	""	"{PMID:Ohata 2019:31363794}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877427"	"0"	"90"	"17"	"48271546"	"48271546"	"subst"	"0"	"04298"	"COL1A1_001636"	"g.48271546T>A"	""	"{PMID:Ohata 2019:31363794}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877428"	"0"	"90"	"17"	"48267954"	"48267954"	"subst"	"0"	"04298"	"COL1A1_001631"	"g.48267954C>A"	""	"{PMID:Ohata 2019:31363794}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877429"	"0"	"90"	"17"	"48267686"	"48267686"	"subst"	"0"	"04298"	"COL1A1_001630"	"g.48267686A>C"	""	"{PMID:Ohata 2019:31363794}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877430"	"0"	"90"	"17"	"48267259"	"48267259"	"del"	"0"	"04298"	"COL1A1_001628"	"g.48267259del"	""	"{PMID:Ohata 2019:31363794}"	""	"2574delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189898del"	""	"pathogenic (dominant)"	""
"0000877431"	"0"	"90"	"17"	"48266852"	"48266853"	"dup"	"0"	"04298"	"COL1A1_001627"	"g.48266852_48266853dup"	""	"{PMID:Ohata 2019:31363794}"	""	"2716_2717dupCG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189491_50189492dup"	""	"pathogenic (dominant)"	""
"0000877432"	"0"	"90"	"17"	"48265986"	"48265986"	"del"	"0"	"04298"	"COL1A1_001624"	"g.48265986del"	""	"{PMID:Ohata 2019:31363794}"	""	"3112delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188625del"	""	"pathogenic (dominant)"	""
"0000877433"	"0"	"90"	"17"	"48265346"	"48265346"	"subst"	"0"	"04298"	"COL1A1_001620"	"g.48265346T>C"	""	"{PMID:Ohata 2019:31363794}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000877434"	"0"	"90"	"17"	"48263779"	"48263779"	"subst"	"8.1213E-6"	"04298"	"COL1A1_001615"	"g.48263779G>A"	""	"{PMID:Ohata 2019:31363794}"	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000878055"	"0"	"70"	"17"	"48276924"	"48276924"	"subst"	"8.12222E-6"	"02544"	"COL1A1_001330"	"g.48276924C>T"	""	"{PMID:Morlino 2020:31794058}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199563C>T"	""	"likely pathogenic"	""
"0000878056"	"0"	"70"	"17"	"48275529"	"48275529"	"subst"	"0"	"02544"	"COL1A1_000667"	"g.48275529C>G"	""	"{PMID:Morlino 2020:31794058}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50198168C>G"	""	"likely pathogenic"	""
"0000878069"	"0"	"70"	"17"	"48275119"	"48275119"	"subst"	"0"	"02544"	"COL1A1_001547"	"g.48275119C>T"	""	"{PMID:Morlino 2020:31794058}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197758C>T"	""	"likely pathogenic"	""
"0000878098"	"0"	"70"	"17"	"48276814"	"48276814"	"subst"	"0"	"02544"	"COL1A1_001666"	"g.48276814C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199453C>T"	""	"likely pathogenic"	""
"0000878107"	"10"	"50"	"17"	"48277287"	"48277287"	"subst"	"2.03146E-5"	"02544"	"COL1A1_001667"	"g.48277287T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199926T>C"	""	"VUS"	""
"0000878117"	"0"	"70"	"17"	"48272818"	"48272818"	"subst"	"0"	"02544"	"COL1A1_001661"	"g.48272818G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.50195457G>A"	""	"likely pathogenic"	""
"0000878124"	"0"	"70"	"17"	"48266120"	"48266120"	"subst"	"0"	"02544"	"COL1A1_000185"	"g.48266120C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188759C>T"	""	"likely pathogenic"	""
"0000878127"	"0"	"90"	"17"	"48275342"	"48275342"	"dup"	"0"	"02544"	"COL1A1_001092"	"g.48275342dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197981dup"	""	"pathogenic"	""
"0000878129"	"0"	"90"	"17"	"48266126"	"48266126"	"subst"	"0"	"02544"	"COL1A1_000244"	"g.48266126G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50188765G>A"	""	"pathogenic"	""
"0000878132"	"20"	"50"	"17"	"48273553"	"48273553"	"subst"	"2.03272E-5"	"02544"	"COL1A1_001663"	"g.48273553C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196192C>T"	""	"VUS"	""
"0000878133"	"0"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"02544"	"COL1A1_000102"	"g.48271736C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194375C>T"	""	"pathogenic"	""
"0000878135"	"10"	"50"	"17"	"48263856"	"48263856"	"subst"	"0"	"02544"	"COL1A1_001657"	"g.48263856A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186495A>G"	""	"VUS"	""
"0000878137"	"10"	"90"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"02544"	"COL1A1_000012"	"g.48275131G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197770G>A"	""	"pathogenic"	""
"0000878149"	"20"	"70"	"17"	"48273282"	"48273282"	"subst"	"3.6985E-5"	"02544"	"COL1A1_001662"	"g.48273282A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195921A>G"	""	"likely pathogenic"	""
"0000878150"	"10"	"90"	"17"	"48267460"	"48267460"	"subst"	"0"	"02544"	"COL1A1_000147"	"g.48267460C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190099C>T"	""	"pathogenic"	""
"0000878161"	"0"	"50"	"17"	"48266900"	"48266900"	"subst"	"0"	"02544"	"COL1A1_000548"	"g.48266900C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50189539C>A"	""	"VUS"	""
"0000878167"	"0"	"90"	"17"	"48272174"	"48272174"	"subst"	"0"	"02544"	"COL1A1_001660"	"g.48272174G>A"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.50194813G>A"	""	"pathogenic"	""
"0000878170"	"0"	"50"	"17"	"48274385"	"48274385"	"subst"	"8.12176E-6"	"02544"	"COL1A1_000940"	"g.48274385T>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197024T>A"	""	"VUS"	""
"0000878173"	"0"	"50"	"17"	"48278769"	"48278772"	"del"	"0"	"02544"	"COL1A1_001668"	"g.48278769_48278772del"	""	""	""	"103+3_103+6delAAGT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50201408_50201411del"	""	"VUS"	""
"0000878175"	"0"	"90"	"17"	"48268797"	"48268797"	"subst"	"0"	"02544"	"COL1A1_001658"	"g.48268797C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50191436C>A"	""	"pathogenic"	""
"0000878179"	"20"	"90"	"17"	"48272129"	"48272129"	"subst"	"0"	"02544"	"COL1A1_000094"	"g.48272129G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194768G>A"	""	"pathogenic"	""
"0000878182"	"20"	"50"	"17"	"48271813"	"48271813"	"subst"	"0"	"02544"	"COL1A1_001639"	"g.48271813T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194452T>C"	""	"VUS"	""
"0000878189"	"0"	"70"	"17"	"48274561"	"48274561"	"subst"	"4.06108E-6"	"02544"	"COL1A1_001664"	"g.48274561G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50197200G>A"	""	"likely pathogenic"	""
"0000878190"	"0"	"90"	"17"	"48272081"	"48272081"	"subst"	"0"	"02544"	"COL1A1_001659"	"g.48272081C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50194720C>A"	""	"pathogenic"	""
"0000878193"	"0"	"70"	"17"	"48275363"	"48275363"	"subst"	"0"	"02544"	"COL1A1_000006"	"g.48275363C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50198002C>T"	""	"likely pathogenic"	""
"0000878197"	"10"	"50"	"17"	"48263320"	"48263320"	"subst"	"2.03341E-5"	"02544"	"COL1A1_000628"	"g.48263320C>T"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50185959C>T"	""	"VUS"	""
"0000878205"	"10"	"90"	"17"	"48276677"	"48276677"	"dup"	"0"	"02544"	"COL1A1_000287"	"g.48276677dup"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199316dup"	""	"pathogenic"	""
"0000878209"	"0"	"50"	"17"	"48276789"	"48276789"	"subst"	"8.14133E-6"	"02544"	"COL1A1_001665"	"g.48276789C>T"	""	"0"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50199428C>T"	""	"VUS"	""
"0000879995"	"0"	"90"	"17"	"48270406"	"48270406"	"del"	"0"	"00006"	"COL1A1_001669"	"g.48270406del"	""	"{PMID:Pagnamenta 2022:34782440}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50193045del"	""	"pathogenic (dominant)"	""
"0000881159"	"0"	"90"	"17"	"48267398"	"48267398"	"del"	"0"	"02300"	"COL1A1_000326"	"g.48267398del"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.2523delT"	"ACMG PVS1, PM2, PP2"	"Germline/De novo (untested)"	""	"rs72653133"	"0"	""	""	"g.50190037del"	""	"pathogenic (dominant)"	"ACMG"
"0000881160"	"0"	"90"	"17"	"48264417"	"48264417"	"del"	"0"	"02300"	"COL1A1_000612"	"g.48264417del"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.3494delC"	"ACMG PVS1, PM1, PM2, PP3, PP4"	"Germline/De novo (untested)"	""	"rs1598286050"	"0"	""	""	"g.50187056del"	""	"pathogenic (dominant)"	"ACMG"
"0000881161"	"0"	"90"	"17"	"48264248"	"48264248"	"del"	"0"	"02300"	"COL1A1_000788"	"g.48264248del"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.3567delT"	"ACMG PVS1, PM1, PM2, PP5"	"Germline/De novo (untested)"	""	"rs886042286"	"0"	""	""	"g.50186887del"	""	"pathogenic (dominant)"	"ACMG"
"0000881273"	"0"	"90"	"17"	"48270014"	"48270014"	"del"	"0"	"02300"	"COL1A1_001670"	"g.48270014del"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.1920delC"	"ACMG PVS1, PM2, PP3"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50192653del"	""	"pathogenic (dominant)"	"ACMG"
"0000894004"	"0"	"30"	"17"	"48263001"	"48263001"	"subst"	"0.000644018"	"02325"	"COL1A1_000514"	"g.48263001G>A"	""	""	""	"COL1A1(NM_000088.3):c.4257C>T (p.T1419=), COL1A1(NM_000088.4):c.4257C>T (p.T1419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894005"	"0"	"10"	"17"	"48263001"	"48263001"	"subst"	"0.000644018"	"02329"	"COL1A1_000514"	"g.48263001G>A"	""	""	""	"COL1A1(NM_000088.3):c.4257C>T (p.T1419=), COL1A1(NM_000088.4):c.4257C>T (p.T1419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894006"	"0"	"10"	"17"	"48263021"	"48263021"	"subst"	"0.591362"	"02325"	"COL1A1_001439"	"g.48263021C>T"	""	""	""	"COL1A1(NM_000088.3):c.4249-12G>A, COL1A1(NM_000088.4):c.4249-12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894007"	"0"	"90"	"17"	"48264009"	"48264009"	"del"	"0"	"02329"	"COL1A1_001671"	"g.48264009del"	""	""	""	"COL1A1(NM_000088.3):c.3807delG (p.W1269*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894008"	"0"	"10"	"17"	"48265426"	"48265426"	"subst"	"0.670468"	"02325"	"COL1A1_001672"	"g.48265426A>G"	""	""	""	"COL1A1(NM_000088.4):c.3261+31T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894009"	"0"	"30"	"17"	"48265996"	"48265996"	"subst"	"0.000240058"	"02329"	"COL1A1_001475"	"g.48265996A>G"	""	""	""	"COL1A1(NM_000088.3):c.3102T>C (p.G1034=, p.(Gly1034=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894010"	"0"	"30"	"17"	"48266109"	"48266109"	"subst"	"4.46701E-5"	"02326"	"COL1A1_001597"	"g.48266109G>A"	""	""	""	"COL1A1(NM_000088.3):c.3093C>T (p.G1031=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894011"	"0"	"70"	"17"	"48266269"	"48266269"	"subst"	"8.14226E-6"	"02327"	"COL1A1_000242"	"g.48266269G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000894012"	"0"	"10"	"17"	"48266669"	"48266669"	"subst"	"0.999935"	"02325"	"COL1A1_001673"	"g.48266669G>C"	""	""	""	"COL1A1(NM_000088.4):c.2830-33C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894013"	"0"	"90"	"17"	"48267056"	"48267056"	"subst"	"0"	"02327"	"COL1A1_001674"	"g.48267056C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894014"	"0"	"10"	"17"	"48267210"	"48267210"	"subst"	"0"	"02329"	"COL1A1_001675"	"g.48267210T>G"	""	""	""	"COL1A1(NM_000088.3):c.2613+10A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894015"	"0"	"10"	"17"	"48267291"	"48267291"	"subst"	"0.521741"	"02325"	"COL1A1_001491"	"g.48267291G>C"	""	""	""	"COL1A1(NM_000088.3):c.2560-18C>G, COL1A1(NM_000088.4):c.2560-18C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894016"	"0"	"90"	"17"	"48267388"	"48267388"	"subst"	"0"	"02329"	"COL1A1_000160"	"g.48267388C>T"	""	""	""	"COL1A1(NM_000088.3):c.2533G>A (p.G845R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894017"	"0"	"90"	"17"	"48267687"	"48267687"	"subst"	"0"	"02329"	"COL1A1_001676"	"g.48267687C>G"	""	""	""	"COL1A1(NM_000088.3):c.2451+1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894018"	"0"	"90"	"17"	"48267723"	"48267723"	"subst"	"0"	"02327"	"COL1A1_000642"	"g.48267723C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894019"	"0"	"10"	"17"	"48269302"	"48269302"	"subst"	"0.869076"	"02325"	"COL1A1_001677"	"g.48269302G>A"	""	""	""	"COL1A1(NM_000088.4):c.2028+39C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894020"	"0"	"50"	"17"	"48269364"	"48269364"	"subst"	"6.18735E-5"	"02325"	"COL1A1_001051"	"g.48269364C>T"	""	""	""	"COL1A1(NM_000088.4):c.2005G>A (p.A669T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894021"	"0"	"10"	"17"	"48269426"	"48269426"	"subst"	"0.672752"	"02325"	"COL1A1_001678"	"g.48269426C>T"	""	""	""	"COL1A1(NM_000088.4):c.1984-41G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894022"	"0"	"10"	"17"	"48270098"	"48270098"	"subst"	"0.101755"	"02325"	"COL1A1_001679"	"g.48270098G>A"	""	""	""	"COL1A1(NM_000088.4):c.1876-44C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894023"	"0"	"10"	"17"	"48271433"	"48271433"	"subst"	"0.664007"	"02325"	"COL1A1_001680"	"g.48271433A>G"	""	""	""	"COL1A1(NM_000088.4):c.1669-31T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894024"	"0"	"10"	"17"	"48272055"	"48272055"	"subst"	"0.68492"	"02325"	"COL1A1_001681"	"g.48272055C>T"	""	""	""	"COL1A1(NM_000088.4):c.1461+27G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894025"	"0"	"30"	"17"	"48272857"	"48272857"	"subst"	"5.68482E-5"	"02326"	"COL1A1_001528"	"g.48272857G>A"	""	""	""	"COL1A1(NM_000088.3):c.1156-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894026"	"0"	"10"	"17"	"48273903"	"48273903"	"subst"	"0.0781895"	"02325"	"COL1A1_001538"	"g.48273903A>C"	""	""	""	"COL1A1(NM_000088.3):c.859-14T>G, COL1A1(NM_000088.4):c.859-14T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894027"	"0"	"30"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"01804"	"COL1A1_000010"	"g.48275339G>C"	""	""	""	"COL1A1(NM_000088.3):c.613C>G (p.P205A, p.(Pro205Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894028"	"0"	"10"	"17"	"48275489"	"48275489"	"subst"	"0.278849"	"02325"	"COL1A1_001682"	"g.48275489A>G"	""	""	""	"COL1A1(NM_000088.4):c.588+33T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894029"	"0"	"90"	"17"	"48275823"	"48275824"	"ins"	"0"	"02329"	"COL1A1_001683"	"g.48275823_48275824insA"	""	""	""	"COL1A1(NM_000088.3):c.513_514insT (p.T172Yfs*36)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894030"	"0"	"10"	"17"	"48276971"	"48276971"	"subst"	"0.627359"	"02325"	"COL1A1_001566"	"g.48276971G>C"	""	""	""	"COL1A1(NM_000088.3):c.299-20C>G, COL1A1(NM_000088.4):c.299-20C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000894031"	"0"	"30"	"17"	"48277229"	"48277229"	"subst"	"2.43774E-5"	"02329"	"COL1A1_001684"	"g.48277229G>A"	""	""	""	"COL1A1(NM_000088.3):c.183C>T (p.C61=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894032"	"0"	"30"	"17"	"48277244"	"48277244"	"subst"	"1.21879E-5"	"02329"	"COL1A1_001685"	"g.48277244C>T"	""	""	""	"COL1A1(NM_000088.3):c.168G>A (p.E56=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894033"	"0"	"50"	"17"	"48277281"	"48277281"	"subst"	"0"	"01804"	"COL1A1_001586"	"g.48277281C>T"	""	""	""	"COL1A1(NM_000088.3):c.131G>A (p.G44D, p.(Gly44Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000900518"	"0"	"50"	"17"	"48266686"	"48266686"	"subst"	"0"	"01741"	"COL1A1_001686"	"g.48266686C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000904121"	"0"	"50"	"17"	"48263673"	"48263673"	"subst"	"6.50576E-5"	"03779"	"COL1A1_001442"	"g.48263673C>T"	""	""	""	""	""	"Unknown"	""	"rs778417218"	"0"	""	""	""	""	"VUS"	""
"0000908424"	"0"	"90"	"17"	"48263322"	"48263322"	"del"	"0"	"03779"	"COL1A1_001689"	"g.48263322del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000908571"	"0"	"99"	"17"	"48268805"	"48268805"	"subst"	"0"	"03145"	"COL1A1_001700"	"g.48268805C>A"	""	""	""	""	"Gly missense in triple helix domain is classified as pathogenic."	"Germline"	"yes"	""	"0"	""	""	"g.50191444C>A"	""	"pathogenic"	"ACMG"
"0000908636"	"0"	"70"	"17"	"48277271"	"48277271"	"subst"	"0"	"03820"	"COL1A1_001702"	"g.48277271G>C"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50199910G>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908637"	"0"	"90"	"17"	"48276952"	"48276953"	"del"	"0"	"03820"	"COL1A1_000995"	"g.48276952_48276953del"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"299_300delAG"	""	"Germline"	""	""	"0"	""	""	"g.50199591_50199592del"	""	"pathogenic (dominant)"	"ACMG"
"0000908638"	"0"	"90"	"17"	"48275531"	"48275531"	"del"	"0"	"03820"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"579delT"	""	"Germline"	""	""	"0"	""	""	"g.50198170del"	""	"pathogenic (dominant)"	"ACMG"
"0000908639"	"0"	"90"	"17"	"48275537"	"48275537"	"dup"	"0"	"03820"	"COL1A1_000657"	"g.48275537dup"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198176dup"	""	"pathogenic (dominant)"	"ACMG"
"0000908640"	"0"	"70"	"17"	"48275309"	"48275309"	"subst"	"0"	"03820"	"COL1A1_000216"	"g.48275309C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197948C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908641"	"0"	"90"	"17"	"48274418"	"48274418"	"subst"	"0"	"03820"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197057G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908642"	"0"	"90"	"17"	"48274418"	"48274418"	"subst"	"0"	"03820"	"COL1A1_000021"	"g.48274418G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50197057G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908643"	"0"	"70"	"17"	"48274030"	"48274030"	"subst"	"0"	"03820"	"COL1A1_001701"	"g.48274030C>G"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50196669C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908644"	"0"	"90"	"17"	"48272962"	"48272962"	"subst"	"0"	"03820"	"COL1A1_000588"	"g.48272962C>G"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195601C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000908645"	"0"	"70"	"17"	"48272691"	"48272691"	"subst"	"0"	"03820"	"COL1A1_000073"	"g.48272691C>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195330C>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908646"	"0"	"90"	"17"	"48272138"	"48272138"	"subst"	"0"	"03820"	"COL1A1_000526"	"g.48272138G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194777G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908647"	"0"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"03820"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194375C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908648"	"0"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"03820"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194375C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908649"	"0"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"03820"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194375C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908650"	"0"	"90"	"17"	"48271709"	"48271709"	"subst"	"0"	"03820"	"COL1A1_000409"	"g.48271709C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50194348C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908651"	"0"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"03820"	"COL1A1_000415"	"g.48270354C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192993C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908652"	"0"	"70"	"17"	"48269835"	"48269835"	"subst"	"0"	"03820"	"COL1A1_001185"	"g.48269835C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192474C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908653"	"0"	"90"	"17"	"48269187"	"48269187"	"subst"	"0"	"03820"	"COL1A1_000198"	"g.48269187G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191826G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908654"	"0"	"90"	"17"	"48268824"	"48268824"	"subst"	"0"	"03820"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191463C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908655"	"0"	"90"	"17"	"48268824"	"48268824"	"subst"	"0"	"03820"	"COL1A1_000108"	"g.48268824C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191463C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908656"	"0"	"50"	"17"	"48268739"	"48268739"	"subst"	"0"	"03820"	"COL1A1_000960"	"g.48268739C>G"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50191378C>G"	""	"VUS"	"ACMG"
"0000908657"	"0"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"03820"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190861C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908658"	"0"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"03820"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190861C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908659"	"0"	"90"	"17"	"48267460"	"48267460"	"subst"	"0"	"03820"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190099C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908660"	"0"	"70"	"17"	"48267436"	"48267438"	"delins"	"0"	"03820"	"COL1A1_001699"	"g.48267436_48267438delinsC"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190075_50190077delinsC"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908661"	"0"	"50"	"17"	"48267357"	"48267357"	"subst"	"0"	"03820"	"COL1A1_001698"	"g.48267357C>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189996C>A"	""	"VUS"	"ACMG"
"0000908662"	"0"	"90"	"17"	"48267237"	"48267237"	"subst"	"0"	"03820"	"COL1A1_000166"	"g.48267237C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189876C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908663"	"0"	"90"	"17"	"48267063"	"48267063"	"subst"	"0"	"03820"	"COL1A1_000236"	"g.48267063G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189702G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908664"	"0"	"70"	"17"	"48266788"	"48266788"	"del"	"0"	"03820"	"COL1A1_001697"	"g.48266788del"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189427del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908665"	"0"	"70"	"17"	"48266372"	"48266372"	"subst"	"0"	"03820"	"COL1A1_001486"	"g.48266372C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50189011C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908666"	"0"	"90"	"17"	"48266318"	"48266318"	"del"	"0"	"03820"	"COL1A1_000646"	"g.48266318del"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"2991delT "	""	"Germline"	""	""	"0"	""	""	"g.50188957del"	""	"pathogenic (dominant)"	"ACMG"
"0000908667"	"0"	"90"	"17"	"48266126"	"48266126"	"subst"	"0"	"03820"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188765G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908668"	"0"	"70"	"17"	"48266120"	"48266120"	"subst"	"0"	"03820"	"COL1A1_000185"	"g.48266120C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188759C>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908669"	"0"	"70"	"17"	"48265979"	"48265979"	"subst"	"0"	"03820"	"COL1A1_001696"	"g.48265979C>G"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188618C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908670"	"0"	"70"	"17"	"48265935"	"48265935"	"dup"	"0"	"03820"	"COL1A1_001695"	"g.48265935dup"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188574dup"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908671"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"03820"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188131C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908672"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"03820"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188131C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908673"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"03820"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188131C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908674"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"03820"	"COL1A1_000196"	"g.48265492C>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50188131C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000908675"	"0"	"90"	"17"	"48265246"	"48265246"	"del"	"0"	"03820"	"COL1A1_000765"	"g.48265246del"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"3360delT"	""	"Germline"	""	""	"0"	""	""	"g.50187885del"	""	"pathogenic (dominant)"	"ACMG"
"0000908676"	"0"	"90"	"17"	"48265338"	"48265338"	"subst"	"0"	"03820"	"COL1A1_001694"	"g.48265338G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187977G>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908677"	"0"	"70"	"17"	"48264282"	"48264282"	"subst"	"0"	"03820"	"COL1A1_001693"	"g.48264282C>G"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186921C>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908678"	"0"	"70"	"17"	"48264151"	"48264151"	"subst"	"0"	"03820"	"COL1A1_001692"	"g.48264151T>C"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186790T>C"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908679"	"0"	"70"	"17"	"48263804"	"48263804"	"dup"	"0"	"03820"	"COL1A1_001691"	"g.48263804dup"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"3880dupG"	""	"Germline"	""	""	"0"	""	""	"g.50186443dup"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908680"	"0"	"70"	"17"	"48263790"	"48263790"	"subst"	"0"	"03820"	"COL1A1_001046"	"g.48263790G>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186429G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908681"	"0"	"70"	"17"	"48263689"	"48263689"	"del"	"0"	"03820"	"COL1A1_001690"	"g.48263689del"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186328del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908682"	"0"	"70"	"17"	"48263826"	"48263826"	"subst"	"0"	"03820"	"COL1A1_000803"	"g.48263826G>T"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50186465G>T"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908683"	"0"	"70"	"17"	"48263204"	"48263204"	"subst"	"0"	"03820"	"COL1A1_001688"	"g.48263204C>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50185843C>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908684"	"0"	"90"	"17"	"48262937"	"48262937"	"subst"	"0"	"03820"	"COL1A1_000278"	"g.48262937C>A"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50185576C>A"	""	"pathogenic (dominant)"	"ACMG"
"0000908685"	"0"	"70"	"17"	"48262906"	"48262910"	"del"	"0"	"03820"	"COL1A1_001687"	"g.48262906_48262910del"	""	"{PMID:Yamaguti 2023:36951356}, {DOI:Yamaguti 2023:10.1177/00220345231154569}"	""	"4352_4356delACCAG"	""	"Germline"	""	""	"0"	""	""	"g.50185545_50185549del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000908959"	"0"	"70"	"17"	"48275118"	"48275118"	"subst"	"0"	"04419"	"COL1A1_000771"	"g.48275118C>T"	""	"{PMID:Lu et al., 2018:29552444}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50197757C>T"	""	"likely pathogenic"	"ACMG"
"0000909971"	"0"	"99"	"17"	"48268202"	"48268203"	"ins"	"0"	"03779"	"COL1A1_001704"	"g.48268202_48268203insTG"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000914880"	"0"	"30"	"17"	"48263880"	"48263880"	"subst"	"0.000150341"	"02329"	"COL1A1_001703"	"g.48263880C>A"	""	""	""	"COL1A1(NM_000088.3):c.3815-12G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000914881"	"0"	"10"	"17"	"48265495"	"48265495"	"subst"	"0.985073"	"02326"	"COL1A1_001462"	"g.48265495T>C"	""	""	""	"COL1A1(NM_000088.3):c.3223A>G (p.T1075A), COL1A1(NM_000088.4):c.3223A>G (p.T1075A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000914882"	"0"	"90"	"17"	"48266863"	"48266863"	"subst"	"0"	"02329"	"COL1A1_001130"	"g.48266863C>T"	""	""	""	"COL1A1(NM_000088.3):c.2704G>A (p.G902S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000914883"	"0"	"90"	"17"	"48270364"	"48270364"	"del"	"0"	"02329"	"COL1A1_000782"	"g.48270364del"	""	""	""	"COL1A1(NM_000088.3):c.1812delT (p.G605Afs*161)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000914884"	"0"	"90"	"17"	"48271375"	"48271375"	"subst"	"0"	"02329"	"COL1A1_001705"	"g.48271375C>A"	""	""	""	"COL1A1(NM_000088.3):c.1696G>T (p.G566*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000914885"	"0"	"30"	"17"	"48272468"	"48272468"	"subst"	"0"	"02329"	"COL1A1_001706"	"g.48272468G>T"	""	""	""	"COL1A1(NM_000088.3):c.1300-7C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000914886"	"0"	"50"	"17"	"48274551"	"48274551"	"subst"	"0.000166493"	"01804"	"COL1A1_000633"	"g.48274551G>A"	""	""	""	"COL1A1(NM_000088.3):c.740C>T (p.(Pro247Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914887"	"0"	"50"	"17"	"48276611"	"48276619"	"dup"	"0"	"02329"	"COL1A1_001707"	"g.48276611_48276619dup"	""	""	""	"COL1A1(NM_000088.3):c.447_455dupTCCCGGACC (p.P152_G154dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914888"	"0"	"90"	"17"	"48276640"	"48276640"	"del"	"0"	"02329"	"COL1A1_001708"	"g.48276640del"	""	""	""	"COL1A1(NM_000088.3):c.418delC (p.L140Ffs*125)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000914889"	"0"	"50"	"17"	"48278841"	"48278841"	"subst"	"4.07568E-6"	"01804"	"COL1A1_001709"	"g.48278841G>A"	""	""	""	"COL1A1(NM_000088.3):c.34C>T (p.(Leu12Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000916981"	"3"	"90"	"17"	"48269226"	"48269226"	"subst"	"0"	"04419"	"COL1A1_001220"	"g.48269226C>T"	""	"{PMID:Almatrafi et al., 2020:33693443}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50191865C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000918096"	"0"	"99"	"17"	"48265483"	"48265483"	"subst"	"0"	"04305"	"COL1A1_000204"	"g.48265483C>T"	""	"{PMID:Morabito et al., 2022:35456387}"	""	""	""	"De novo"	"yes"	"rs772654802"	"0"	""	""	"g.50188122C>T"	"17322"	"pathogenic"	"ACMG"
"0000918097"	"11"	"71"	"17"	"48267688"	"48267688"	"subst"	"1.62909E-5"	"04305"	"COL1A1_001719"	"g.48267688A>G"	""	"{PMID:Junkiert-Czarnecka et al., 2022:35723357}"	""	""	"Curator: silent variant; not predicted to affect splicing."	"Germline"	"yes"	"rs374465457"	"0"	""	""	"g.50190327A>G"	""	"likely pathogenic"	"ACMG"
"0000918098"	"0"	"75"	"17"	"48275820"	"48275820"	"subst"	"8.16567E-6"	"04305"	"COL1A1_000901"	"g.48275820C>T"	""	"{PMID:Junkiert-Czarnecka et al., 2022:35723357}"	""	""	"Classified as VUS, because the gly is not in the triple helix and it is not highly conserved. However AGA (arginine) is a positively charged polar amino acid that may affects function."	"Germline"	"yes"	""	"0"	""	""	"g.50198459C>T"	""	"VUS"	"ACMG"
"0000918099"	"0"	"33"	"17"	"48269390"	"48269390"	"subst"	"0.0029313"	"04305"	"COL1A1_000423"	"g.48269390G>T"	""	"{PMID:Junkiert-Czarnecka et al., 2022:35723357}"	""	""	"Very high MAF in Europeans, likely benign."	"Unknown"	""	"rs66592376"	"0"	""	""	"g.50192029G>T"	""	"likely benign"	"ACMG"
"0000918348"	"0"	"70"	"17"	"48271365"	"48271365"	"subst"	"0"	"04465"	"COL1A1_001711"	"g.48271365C>G"	""	"{PMID:Li 2020:31898422}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50194004C>G"	""	"likely pathogenic (dominant)"	""
"0000918349"	"0"	"70"	"17"	"48265299"	"48265299"	"subst"	"0"	"04465"	"COL1A1_001710"	"g.48265299C>T"	""	"{PMID:Li 2020:31898422}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50187938C>T"	""	"likely pathogenic (dominant)"	""
"0000918410"	"21"	"70"	"17"	"48264000"	"48264000"	"subst"	"0"	"04465"	"COL1A1_001617"	"g.48264000C>A"	""	"{PMID:Han 2020:32588564}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic"	""
"0000918448"	"0"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"04465"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Gug 2020:32165296}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000918575"	"0"	"90"	"17"	"48263204"	"48263204"	"subst"	"0"	"04465"	"COL1A1_001688"	"g.48263204C>A"	""	"{PMID:Leguiller 2021:33475155}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918579"	"0"	"90"	"17"	"48263722"	"48263722"	"subst"	"0"	"04465"	"COL1A1_001712"	"g.48263722T>A"	""	"{PMID:Leguiller 2021:33475155}"	""	""	"The mutation is probably from the mother because she also has OI but the mutation is not confirmed in the mother."	"Unknown"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918585"	"0"	"90"	"17"	"48267436"	"48267438"	"delins"	"0"	"04465"	"COL1A1_001699"	"g.48267436_48267438delinsC"	""	"{PMID:Leguiller 2021:33475155}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50190075_50190077delinsC"	""	"likely pathogenic"	""
"0000918590"	"0"	"90"	"17"	"48265338"	"48265338"	"subst"	"0"	"04465"	"COL1A1_001694"	"g.48265338G>A"	""	"{PMID:Leguiller 2021:33475155}"	""	""	"The mutation is probably from the mother because she also has OI but the mutation is not confirmed in the mother."	"Unknown"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918593"	"0"	"90"	"17"	"48269835"	"48269835"	"subst"	"0"	"04465"	"COL1A1_001185"	"g.48269835C>T"	""	"{PMID:Leguiller 2021:33475155}"	""	""	"The mutation is probably from the mother because she also has OI but the mutation is not confirmed in the mother."	"Unknown"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918594"	"0"	"90"	"17"	"48276823"	"48276823"	"subst"	"0"	"04465"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Leguiller 2021:33475155}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918595"	"0"	"90"	"17"	"48277264"	"48277264"	"subst"	"0"	"04465"	"COL1A1_001095"	"g.48277264G>A"	""	"{PMID:Leguiller 2021:33475155}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918596"	"0"	"90"	"17"	"48276823"	"48276823"	"subst"	"0"	"04465"	"COL1A1_000911"	"g.48276823T>C"	""	"{PMID:Leguiller 2021:33475155}"	""	""	"The mutation is probably from the mother because she also has OI but the mutation is not confirmed in the mother."	"Unknown"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918598"	"0"	"90"	"17"	"48267357"	"48267357"	"subst"	"0"	"04465"	"COL1A1_001698"	"g.48267357C>A"	""	"{PMID:Leguiller 2021:33475155}"	""	""	"The mutation is probably from the mother because she also has OI but the mutation is not confirmed in the mother. Brother also affected and has same mutation"	"Unknown"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918600"	"0"	"90"	"17"	"48267357"	"48267357"	"subst"	"0"	"04465"	"COL1A1_001698"	"g.48267357C>A"	""	"{PMID:Leguiller 2021:33475155}"	""	""	"The mutation is probably from the mother because she also has OI but the mutation is not confirmed in the mother. Sister has the same mutation."	"Unknown"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000918844"	"0"	"90"	"17"	"48270362"	"48270362"	"subst"	"0"	"04465"	"COL1A1_001713"	"g.48270362C>G"	""	"{PMID:Duangchan 2021:34015290}"	""	""	""	"Unknown"	""	""	""	""	""	""	""	"pathogenic"	""
"0000918859"	"10"	"30"	"17"	"48264372"	"48264372"	"subst"	"6.55313E-5"	"04136"	"COL1A1_001722"	"g.48264372A>G"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50187011A>G"	""	"likely benign"	""
"0000918883"	"20"	"70"	"17"	"48272406"	"48272406"	"subst"	"0"	"04136"	"COL1A1_000746"	"g.48272406A>C"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50195045A>C"	""	"likely pathogenic"	""
"0000918884"	"10"	"90"	"17"	"48271716"	"48271716"	"del"	"0"	"04136"	"COL1A1_000956"	"g.48271716del"	""	"Leone 2023, submitted"	""	"1608delT"	""	"Germline"	""	""	"0"	""	""	"g.50194355del"	""	"pathogenic"	""
"0000918885"	"0"	"70"	"17"	"48263000"	"48263000"	"subst"	"0"	"04136"	"COL1A1_001721"	"g.48263000C>T"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50185639C>T"	""	"likely pathogenic"	""
"0000918887"	"20"	"90"	"17"	"48270371"	"48270372"	"delins"	"0"	"04136"	"COL1A1_001724"	"g.48270371_48270372delinsACG"	""	"Leone 2023, submitted"	""	"1804_1805delGGinsCGT"	""	"Germline"	""	""	"0"	""	""	"g.50193010_50193011delinsACG"	""	"pathogenic"	""
"0000918889"	"0"	"90"	"17"	"48276622"	"48276622"	"del"	"0"	"04136"	"COL1A1_000463"	"g.48276622del"	""	"Leone 2023, submitted"	""	"441delC"	""	"Germline"	""	""	"0"	""	""	"g.50199261del"	""	"pathogenic"	""
"0000918908"	"10"	"70"	"17"	"48268177"	"48268177"	"subst"	"0"	"04136"	"COL1A1_000866"	"g.48268177C>T"	""	"Leone 2023, submitted"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50190816C>T"	""	"likely pathogenic"	""
"0000918919"	"0"	"90"	"17"	"48274558"	"48274558"	"subst"	"0"	"04465"	"COL1A1_001714"	"g.48274558C>A"	""	"{PMID:Sałacińska 2021:35748117}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000919283"	"0"	"90"	"17"	"48271393"	"48271393"	"subst"	"0"	"04465"	"COL1A1_000110"	"g.48271393C>T"	""	"{PMID:Yang 2022:36140746}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919284"	"0"	"90"	"17"	"48269175"	"48269175"	"subst"	"0"	"04465"	"COL1A1_000104"	"g.48269175C>T"	""	"{PMID:Yang 2022:36140746}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919290"	"0"	"90"	"17"	"48276790"	"48276790"	"subst"	"0"	"04465"	"COL1A1_000944"	"g.48276790G>A"	""	"{PMID:Nadyrshina:3505246}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919291"	"0"	"90"	"17"	"48275131"	"48275131"	"subst"	"4.19805E-6"	"04465"	"COL1A1_000012"	"g.48275131G>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Unknown"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919292"	"0"	"90"	"17"	"48273977"	"48273977"	"subst"	"0"	"04465"	"COL1A1_000381"	"g.48273977C>T"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Unknown"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919293"	"0"	"90"	"17"	"48273551"	"48273551"	"subst"	"0"	"04465"	"COL1A1_000670"	"g.48273551C>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919294"	"0"	"90"	"17"	"48273551"	"48273551"	"subst"	"0"	"04465"	"COL1A1_000670"	"g.48273551C>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919295"	"0"	"90"	"17"	"48273002"	"48273002"	"subst"	"0"	"04465"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919296"	"0"	"90"	"17"	"48273002"	"48273002"	"subst"	"0"	"04465"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919297"	"0"	"90"	"17"	"48272649"	"48272649"	"subst"	"0"	"04465"	"COL1A1_000083"	"g.48272649G>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919298"	"0"	"90"	"17"	"48267460"	"48267460"	"subst"	"0"	"04465"	"COL1A1_000147"	"g.48267460C>T"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Unknown"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919299"	"0"	"90"	"17"	"48267264"	"48267264"	"subst"	"0"	"04465"	"COL1A1_000164"	"g.48267264C>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Unknown"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919300"	"0"	"90"	"17"	"48266126"	"48266126"	"subst"	"0"	"04465"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"De novo"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919301"	"0"	"90"	"17"	"48266126"	"48266126"	"subst"	"0"	"04465"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Unknown"	""	""	""	""	""	""	""	"pathogenic"	""
"0000919454"	"21"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"04465"	"COL1A1_001195"	"g.48270354C>G"	""	"{PMID:Lin 2019:31653500}"	""	""	""	"Germline"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000919455"	"0"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"04465"	"COL1A1_001195"	"g.48270354C>G"	""	"{PMID:Lin 2019:31653500}"	""	""	""	"Unknown"	"yes"	""	""	""	""	""	""	"likely pathogenic"	""
"0000919456"	"21"	"90"	"17"	"48270354"	"48270354"	"subst"	"0"	"04465"	"COL1A1_001195"	"g.48270354C>G"	""	"{PMID:Lin 2019:31653500}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"likely pathogenic"	""
"0000919570"	"0"	"90"	"17"	"48272201"	"48272201"	"subst"	"0"	"04465"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Nadyrshina 2022:35052464}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000919571"	"0"	"90"	"17"	"48272201"	"48272201"	"subst"	"0"	"04465"	"COL1A1_000402"	"g.48272201C>T"	""	"{PMID:Nadyrshina 2022:3505246}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000919572"	"0"	"90"	"17"	"48261457"	"48279000"	"del"	"0"	"00006"	"COL1A1_000366"	"g.(?_48261457)_(48279000_?)del"	""	"{PMID:Leguiller 2021:33475155}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_50184096)_(50201639_?)del"	""	"pathogenic (dominant)"	""
"0000919573"	"21"	"90"	"17"	"48267958"	"48267958"	"subst"	"0"	"00006"	"COL1A1_000728"	"g.48267958C>T"	""	"{PMID:Niu 2022:35855543}"	""	""	"ACMG PVS1, PS2M, PM2, PP4"	"Germline"	"yes"	""	"0"	""	""	"g.50190597C>T"	""	"pathogenic (dominant)"	"ACMG"
"0000919574"	"0"	"90"	"17"	"48276652"	"48276652"	"dup"	"0"	"04465"	"COL1A1_001715"	"g.48276652dup"	""	"{PMID:Nadyrshina 2022:35052464}"	""	"407dupG"	""	"De novo"	""	""	"0"	""	""	"g.50199291dup"	""	"pathogenic (dominant)"	""
"0000919575"	"0"	"90"	"17"	"48267696"	"48267696"	"del"	"0"	"04465"	"COL1A1_000323"	"g.48267696del"	""	"{PMID:Nadyrshina 2022:35052464}"	""	"2444delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190335del"	""	"pathogenic (dominant)"	""
"0000919576"	"0"	"90"	"17"	"48264023"	"48264023"	"del"	"0"	"04465"	"COL1A1_001716"	"g.48264023del"	""	"{PMID:Nadyrshina 2022:35052464}"	""	"3792delG"	""	"De novo"	""	""	"0"	""	""	"g.50186662del"	""	"pathogenic (dominant)"	""
"0000919629"	"21"	"90"	"17"	"48267958"	"48267958"	"subst"	"0"	"04465"	"COL1A1_000728"	"g.48267958C>T"	""	"{PMID:Niu 2022:35855543}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic (dominant)"	"ACMG"
"0000919630"	"0"	"90"	"17"	"48267958"	"48267958"	"subst"	"0"	"04465"	"COL1A1_000728"	"g.48267958C>T"	""	"{PMID:Niu 2022:35855543}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	""	"pathogenic (dominant)"	""
"0000919663"	"0"	"90"	"17"	"48276685"	"48276685"	"dup"	"0"	"04465"	"COL1A1_001717"	"g.48276685dup"	""	"{PMID:Nadyrshina 2022:35052464}"	""	"375dupC"	""	"De novo"	""	""	"0"	""	""	"g.50199324dup"	""	"pathogenic (dominant)"	""
"0000919664"	"21"	"90"	"17"	"48275531"	"48275531"	"del"	"0"	"04465"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Nadyrshina 2022:35052464}"	""	"579delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.50198170del"	""	"pathogenic (dominant)"	""
"0000920140"	"0"	"90"	"17"	"48275531"	"48275531"	"del"	"0"	"04465"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Nadyrshina 2022:3505246}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50198170del"	""	"pathogenic (dominant)"	""
"0000920179"	"0"	"90"	"17"	"48265509"	"48265509"	"subst"	"0"	"03779"	"COL1A1_001723"	"g.48265509C>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000920662"	"0"	"90"	"17"	"48263773"	"48263773"	"subst"	"0"	"03779"	"COL1A1_000524"	"g.48263773G>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000920716"	"0"	"90"	"17"	"48262937"	"48262937"	"subst"	"0"	"03779"	"COL1A1_000472"	"g.48262937C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000920795"	"11"	"97"	"17"	"48264258"	"48264258"	"subst"	"0"	"04465"	"COL1A1_001720"	"g.48264258G>A"	""	"{PMID:Yang 2022:36140746}"	""	""	"Proline can fold 60 or 180 degrees and the proline is replaced by leu in the triple helix domain. Therefore, probably affects function."	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	""
"0000920796"	"11"	"97"	"17"	"48264258"	"48264258"	"subst"	"0"	"04465"	"COL1A1_001720"	"g.48264258G>A"	""	""	""	""	"Proline can fold in 60 or 180 degrees and the proline is replaced by leu in triple helix domain. Therefore classified as likely pathogenic."	"Germline"	"yes"	""	"0"	""	""	""	""	"VUS"	""
"0000921080"	"0"	"99"	"17"	"48268221"	"48268221"	"subst"	"0"	"04465"	"COL1A1_001718"	"g.48268221C>A"	""	"{PMID:Yang 2022:36140746}"	""	""	"Gly substitutes in the triple helix are pathogenic. According to results compound heterozygous VUS variants n.39A>G and n.23C>T were found in RMRP gene."	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000921611"	"0"	"99"	"17"	"48275531"	"48275531"	"del"	"0"	"04465"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Nadyrshina 2022:3505246}"	""	""	"Frameshift in COL1A1 is classified as pathogenic"	"De novo"	""	""	"0"	""	""	""	"35925"	"pathogenic"	""
"0000921613"	"0"	"99"	"17"	"48266597"	"48266597"	"subst"	"0"	"04465"	"COL1A1_000238"	"g.48266597G>A"	""	"{PMID:Nadyrshina 2022:3505246}"	""	""	""	"Germline"	""	"rs72653161"	"0"	""	""	""	""	"pathogenic"	""
"0000921615"	"0"	"99"	"17"	"48266597"	"48266597"	"subst"	"0"	"04465"	"COL1A1_000238"	"g.48266597G>A"	""	"{PMID:Nadyrshina 2022:3505246}"	""	""	""	"Germline"	""	"rs72653161"	"0"	""	""	""	""	"pathogenic"	""
"0000922759"	"0"	"90"	"17"	"48277237"	"48277237"	"subst"	"0"	"04465"	"COL1A1_001090"	"g.48277237G>A"	""	"{PMID:Cao 2023:36734182}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000922760"	"0"	"90"	"17"	"48277225"	"48277225"	"subst"	"0"	"04465"	"COL1A1_001091"	"g.48277225A>T"	""	"{PMID:Cao 2023:36734182}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000926529"	"0"	"10"	"17"	"48263001"	"48263001"	"subst"	"0.000644018"	"02326"	"COL1A1_000514"	"g.48263001G>A"	""	""	""	"COL1A1(NM_000088.3):c.4257C>T (p.T1419=), COL1A1(NM_000088.4):c.4257C>T (p.T1419=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000926530"	"0"	"30"	"17"	"48263690"	"48263690"	"subst"	"0.000255933"	"02329"	"COL1A1_001445"	"g.48263690G>A"	""	""	""	"COL1A1(NM_000088.3):c.3993C>T (p.T1331=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926531"	"0"	"30"	"17"	"48263786"	"48263786"	"subst"	"0.00134814"	"02326"	"COL1A1_001447"	"g.48263786G>A"	""	""	""	"COL1A1(NM_000088.3):c.3897C>T (p.C1299=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926532"	"0"	"30"	"17"	"48265531"	"48265531"	"subst"	"0.000326611"	"02329"	"COL1A1_001725"	"g.48265531A>C"	""	""	""	"COL1A1(NM_000088.3):c.3208-21T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926533"	"0"	"30"	"17"	"48266013"	"48266013"	"subst"	"0"	"02329"	"COL1A1_001726"	"g.48266013A>G"	""	""	""	"COL1A1(NM_000088.3):c.3100-15T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926534"	"0"	"30"	"17"	"48267458"	"48267458"	"subst"	"0"	"02329"	"COL1A1_001727"	"g.48267458G>T"	""	""	""	"COL1A1(NM_000088.3):c.2463C>A (p.G821=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926535"	"0"	"30"	"17"	"48267715"	"48267715"	"subst"	"6.09974E-5"	"02329"	"COL1A1_001728"	"g.48267715G>A"	""	""	""	"COL1A1(NM_000088.3):c.2424C>T (p.P808=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926536"	"0"	"30"	"17"	"48267861"	"48267861"	"subst"	"0.000195629"	"02329"	"COL1A1_001729"	"g.48267861G>A"	""	""	""	"COL1A1(NM_000088.3):c.2397+43C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926537"	"0"	"50"	"17"	"48268811"	"48268811"	"subst"	"0.000479242"	"01804"	"COL1A1_000816"	"g.48268811G>A"	""	""	""	"COL1A1(NM_000088.3):c.2168C>T (p.(Ala723Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000926538"	"0"	"30"	"17"	"48269390"	"48269390"	"subst"	"8.35129E-6"	"02329"	"COL1A1_001730"	"g.48269390G>A"	""	""	""	"COL1A1(NM_000088.3):c.1984-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926539"	"0"	"90"	"17"	"48270027"	"48270027"	"subst"	"0"	"02325"	"COL1A1_000136"	"g.48270027C>T"	""	""	""	"COL1A1(NM_000088.4):c.1903G>A (p.G635S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000926540"	"0"	"90"	"17"	"48271303"	"48271303"	"subst"	"0"	"02329"	"COL1A1_001731"	"g.48271303C>T"	""	""	""	"COL1A1(NM_000088.3):c.1767+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000926541"	"0"	"50"	"17"	"48271380"	"48271380"	"subst"	"0.000162475"	"02326"	"COL1A1_001732"	"g.48271380C>T"	""	""	""	"COL1A1(NM_000088.3):c.1691G>A (p.R564H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000926542"	"0"	"10"	"17"	"48271548"	"48271548"	"subst"	"0.00222388"	"02326"	"COL1A1_000411"	"g.48271548G>T"	""	""	""	"COL1A1(NM_000088.3):c.1615-4C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000926543"	"0"	"30"	"17"	"48271823"	"48271823"	"subst"	"0"	"02329"	"COL1A1_001733"	"g.48271823T>A"	""	""	""	"COL1A1(NM_000088.3):c.1516-15A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926544"	"0"	"30"	"17"	"48272118"	"48272118"	"subst"	"0"	"02329"	"COL1A1_001734"	"g.48272118G>A"	""	""	""	"COL1A1(NM_000088.3):c.1425C>T (p.P475=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926545"	"0"	"30"	"17"	"48272199"	"48272199"	"del"	"0"	"02329"	"COL1A1_001735"	"g.48272199del"	""	""	""	"COL1A1(NM_000088.3):c.1354-8delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926546"	"0"	"30"	"17"	"48273687"	"48273687"	"subst"	"1.2804E-5"	"02329"	"COL1A1_001736"	"g.48273687G>A"	""	""	""	"COL1A1(NM_000088.3):c.945C>T (p.A315=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926547"	"0"	"30"	"17"	"48275809"	"48275809"	"subst"	"1.63356E-5"	"02329"	"COL1A1_001737"	"g.48275809G>A"	""	""	""	"COL1A1(NM_000088.3):c.528C>T (p.S176=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926548"	"0"	"30"	"17"	"48275821"	"48275821"	"subst"	"4.0825E-5"	"02329"	"COL1A1_001738"	"g.48275821G>A"	""	""	""	"COL1A1(NM_000088.3):c.516C>T (p.T172=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926549"	"0"	"30"	"17"	"48278798"	"48278798"	"subst"	"0.000236043"	"01804"	"COL1A1_000579"	"g.48278798C>T"	""	""	""	"COL1A1(NM_000088.3):c.77G>A (p.G26D, p.(Gly26Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000927466"	"0"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"04465"	"COL1A1_000046"	"g.48273524C>T"	""	"{PMID:Kalayci 2023:36398383}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000927467"	"0"	"90"	"17"	"48273301"	"48273301"	"subst"	"0"	"04465"	"COL1A1_001739"	"g.48273301C>A"	""	"{PMID:Kalayci 2023:36398383}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000927468"	"0"	"90"	"17"	"48267423"	"48267423"	"subst"	"0"	"04465"	"COL1A1_000135"	"g.48267423C>A"	""	"{PMID:Kalayci 2023:36398383}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000927469"	"0"	"90"	"17"	"48264411"	"48264411"	"subst"	"0"	"04465"	"COL1A1_000213"	"g.48264411C>A"	""	"{PMID:Kalayci 2023:36398383}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000927579"	"21"	"30"	"17"	"48277279"	"48277279"	"subst"	"9.34503E-5"	"04419"	"COL1A1_001740"	"g.48277279G>C"	""	"{PMID:Gnoii et al., 2021:34025714}"	""	""	""	"Germline"	"?"	""	""	""	""	"g.50199918G>C"	""	"likely benign"	"ACMG"
"0000930808"	"0"	"30"	"17"	"48264049"	"48264049"	"subst"	"0.000211902"	"01804"	"COL1A1_000702"	"g.48264049C>T"	""	""	""	"COL1A1(NM_000088.3):c.3766G>A (p.A1256T, p.(Ala1256Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930809"	"0"	"30"	"17"	"48264489"	"48264489"	"subst"	"0.000666146"	"02329"	"COL1A1_001741"	"g.48264489G>T"	""	""	""	"COL1A1(NM_000088.3):c.3424-6C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930810"	"0"	"30"	"17"	"48267046"	"48267046"	"subst"	"0"	"02326"	"COL1A1_001742"	"g.48267046G>T"	""	""	""	"COL1A1(NM_000088.3):c.2661C>A (p.G887=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930811"	"0"	"30"	"17"	"48268262"	"48268262"	"subst"	"0"	"01804"	"COL1A1_001743"	"g.48268262A>G"	""	""	""	"COL1A1(NM_000088.3):c.2259T>C (p.(Ala753=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930812"	"0"	"30"	"17"	"48271833"	"48271833"	"subst"	"0.000630035"	"02329"	"COL1A1_001744"	"g.48271833A>T"	""	""	""	"COL1A1(NM_000088.3):c.1516-25T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930813"	"0"	"30"	"17"	"48272643"	"48272643"	"subst"	"0.000696685"	"02326"	"COL1A1_000084"	"g.48272643G>C"	""	""	""	"COL1A1(NM_000088.3):c.1249C>G (p.(Pro417Ala), p.P417A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930814"	"0"	"30"	"17"	"48273519"	"48273519"	"subst"	"0.000540558"	"02326"	"COL1A1_001533"	"g.48273519G>A"	""	""	""	"COL1A1(NM_000088.3):c.999C>T (p.P333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000936737"	"0"	"90"	"17"	"48266353"	"48266353"	"subst"	"0"	"03779"	"COL1A1_001050"	"g.48266353C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000950940"	"0"	"90"	"17"	"48265494"	"48265494"	"del"	"0"	"02329"	"COL1A1_001746"	"g.48265494del"	""	""	""	"COL1A1(NM_000088.3):c.3225delC (p.G1076Vfs*32)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000950941"	"0"	"10"	"17"	"48265975"	"48265975"	"subst"	"0.000610928"	"02329"	"COL1A1_001473"	"g.48265975G>A"	""	""	""	"COL1A1(NM_000088.3):c.3123C>T (p.P1041=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000950942"	"0"	"30"	"17"	"48265996"	"48265996"	"subst"	"0.000240058"	"02326"	"COL1A1_001475"	"g.48265996A>G"	""	""	""	"COL1A1(NM_000088.3):c.3102T>C (p.G1034=, p.(Gly1034=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950943"	"0"	"30"	"17"	"48267238"	"48267238"	"subst"	"0.000547249"	"02326"	"COL1A1_001490"	"g.48267238G>A"	""	""	""	"COL1A1(NM_000088.3):c.2595C>T (p.R865=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950944"	"0"	"30"	"17"	"48267345"	"48267345"	"subst"	"1.22461E-5"	"02329"	"COL1A1_001747"	"g.48267345A>C"	""	""	""	"COL1A1(NM_000088.3):c.2559+17T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950945"	"0"	"30"	"17"	"48269161"	"48269161"	"subst"	"0.000649773"	"02329"	"COL1A1_000503"	"g.48269161G>A"	""	""	""	"COL1A1(NM_000088.3):c.2115C>T (p.N705=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950946"	"0"	"30"	"17"	"48269827"	"48269827"	"subst"	"0.0010934"	"02329"	"COL1A1_001748"	"g.48269827C>A"	""	""	""	"COL1A1(NM_000088.3):c.1983+9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950947"	"0"	"50"	"17"	"48276622"	"48276622"	"subst"	"1.9553E-5"	"02326"	"COL1A1_001749"	"g.48276622G>A"	""	""	""	"COL1A1(NM_000088.3):c.436C>T (p.P146S), COL1A1(NM_000088.4):c.436C>T (p.(Pro146Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000955003"	"0"	"70"	"17"	"48277213"	"48277213"	"dup"	"0"	"03779"	"COL1A1_001750"	"g.48277213dup"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000969042"	"0"	"30"	"17"	"48264866"	"48264866"	"subst"	"4.06425E-6"	"02329"	"COL1A1_001751"	"g.48264866G>A"	""	""	""	"COL1A1(NM_000088.3):c.3402C>T (p.A1134=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969043"	"0"	"90"	"17"	"48267074"	"48267074"	"subst"	"0"	"02325"	"COL1A1_001752"	"g.48267074C>G"	""	""	""	"COL1A1(NM_000088.4):c.2633G>C (p.G878A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000969044"	"0"	"30"	"17"	"48267207"	"48267207"	"subst"	"0.000608719"	"02326"	"COL1A1_001357"	"g.48267207G>A"	""	""	""	"COL1A1(NM_000088.3):c.2613+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969045"	"0"	"30"	"17"	"48267382"	"48267382"	"subst"	"3.25836E-5"	"02329"	"COL1A1_001753"	"g.48267382C>T"	""	""	""	"COL1A1(NM_000088.3):c.2539G>A (p.(Ala847Thr), p.A847T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969047"	"0"	"30"	"17"	"48269475"	"48269475"	"subst"	"0"	"02329"	"COL1A1_001754"	"g.48269475G>C"	""	""	""	"COL1A1(NM_000088.3):c.1984-90C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969048"	"0"	"30"	"17"	"48269942"	"48269942"	"subst"	"0"	"02329"	"COL1A1_001755"	"g.48269942G>T"	""	""	""	"COL1A1(NM_000088.3):c.1930-53C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969049"	"0"	"30"	"17"	"48270255"	"48270255"	"subst"	"1.6351E-5"	"02329"	"COL1A1_001756"	"g.48270255G>A"	""	""	""	"COL1A1(NM_000088.3):c.1822-44C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969050"	"0"	"50"	"17"	"48271380"	"48271380"	"subst"	"0.000162475"	"02329"	"COL1A1_001732"	"g.48271380C>T"	""	""	""	"COL1A1(NM_000088.3):c.1691G>A (p.R564H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000969051"	"0"	"90"	"17"	"48271936"	"48271936"	"dup"	"0"	"02329"	"COL1A1_001757"	"g.48271936dup"	""	""	""	"COL1A1(NM_000088.3):c.1514dupA (p.P507Sfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000969052"	"0"	"30"	"17"	"48271999"	"48271999"	"subst"	"0"	"02329"	"COL1A1_001758"	"g.48271999G>C"	""	""	""	"COL1A1(NM_000088.3):c.1462-12C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969053"	"0"	"70"	"17"	"48272135"	"48272135"	"subst"	"0"	"02327"	"COL1A1_001759"	"g.48272135C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000969054"	"0"	"30"	"17"	"48273335"	"48273335"	"subst"	"0.000614494"	"02326"	"COL1A1_001760"	"g.48273335A>T"	""	""	""	"COL1A1(NM_000088.3):c.1005T>A (p.G335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969055"	"0"	"50"	"17"	"48273703"	"48273703"	"subst"	"4.1521E-6"	"02329"	"COL1A1_001761"	"g.48273703C>T"	""	""	""	"COL1A1(NM_000088.3):c.929G>A (p.R310K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000969056"	"0"	"30"	"17"	"48274938"	"48274938"	"subst"	"0"	"02329"	"COL1A1_001762"	"g.48274938C>T"	""	""	""	"COL1A1(NM_000088.3):c.696+155G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969057"	"0"	"50"	"17"	"48277281"	"48277281"	"subst"	"0"	"02329"	"COL1A1_001586"	"g.48277281C>T"	""	""	""	"COL1A1(NM_000088.3):c.131G>A (p.G44D, p.(Gly44Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000969058"	"0"	"30"	"17"	"48277521"	"48277521"	"subst"	"0"	"02329"	"COL1A1_001763"	"g.48277521T>C"	""	""	""	"COL1A1(NM_000088.3):c.104-213A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969059"	"0"	"30"	"17"	"48278704"	"48278704"	"subst"	"0"	"02329"	"COL1A1_001764"	"g.48278704C>T"	""	""	""	"COL1A1(NM_000088.3):c.103+68G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000972008"	"0"	"90"	"17"	"48275344"	"48275344"	"subst"	"0"	"03779"	"COL1A1_000009"	"g.48275344C>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs72667031"	"0"	""	""	""	""	"pathogenic"	""
"0000972009"	"0"	"70"	"17"	"48264159"	"48264161"	"del"	"0"	"03779"	"COL1A1_001765"	"g.48264159_48264161del"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000972010"	"0"	"90"	"17"	"48275531"	"48275531"	"del"	"0"	"03779"	"COL1A1_000293"	"g.48275531del"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs72667023"	"0"	""	""	""	""	"pathogenic"	""
"0000982600"	"0"	"30"	"17"	"48263060"	"48263060"	"subst"	"0"	"02329"	"COL1A1_001766"	"g.48263060G>A"	""	""	""	"COL1A1(NM_000088.3):c.4249-51C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982601"	"0"	"50"	"17"	"48263306"	"48263306"	"subst"	"4.8773E-5"	"01804"	"COL1A1_000537"	"g.48263306C>T"	""	""	""	"COL1A1(NM_000088.4):c.4081G>A (p.(Glu1361Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982602"	"0"	"30"	"17"	"48263369"	"48263369"	"subst"	"0.00065995"	"01804"	"COL1A1_000539"	"g.48263369C>T"	""	""	""	"COL1A1(NM_000088.3):c.4018G>A (p.G1340S), COL1A1(NM_000088.4):c.4018G>A (p.(Gly1340Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982603"	"0"	"70"	"17"	"48264371"	"48264371"	"subst"	"0"	"02329"	"COL1A1_001767"	"g.48264371C>A"	""	""	""	"COL1A1(NM_000088.3):c.3531+5G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000982604"	"0"	"30"	"17"	"48264512"	"48264512"	"subst"	"5.57706E-6"	"02329"	"COL1A1_001768"	"g.48264512G>T"	""	""	""	"COL1A1(NM_000088.3):c.3424-29C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982605"	"0"	"30"	"17"	"48264872"	"48264872"	"subst"	"0"	"02329"	"COL1A1_001769"	"g.48264872A>G"	""	""	""	"COL1A1(NM_000088.3):c.3396T>C (p.S1132=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982606"	"0"	"30"	"17"	"48265484"	"48265484"	"subst"	"0"	"02329"	"COL1A1_001770"	"g.48265484G>A"	""	""	""	"COL1A1(NM_000088.3):c.3234C>T (p.V1078=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982607"	"0"	"30"	"17"	"48266336"	"48266336"	"subst"	"0.00013408"	"02329"	"COL1A1_001771"	"g.48266336A>G"	""	""	""	"COL1A1(NM_000088.3):c.2973T>C (p.S991=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982608"	"0"	"50"	"17"	"48266365"	"48266365"	"subst"	"7.31392E-5"	"01804"	"COL1A1_001582"	"g.48266365G>T"	""	""	""	"COL1A1(NM_000088.3):c.2944C>A (p.P982T), COL1A1(NM_000088.4):c.2944C>A (p.(Pro982Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982609"	"0"	"50"	"17"	"48267240"	"48267240"	"subst"	"0"	"02326"	"COL1A1_001772"	"g.48267240G>A"	""	""	""	"COL1A1(NM_000088.3):c.2593C>T (p.(Arg865Cys), p.R865C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982610"	"0"	"30"	"17"	"48267349"	"48267349"	"subst"	"0"	"02329"	"COL1A1_001773"	"g.48267349C>T"	""	""	""	"COL1A1(NM_000088.3):c.2559+13G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982611"	"0"	"30"	"17"	"48269925"	"48269925"	"subst"	"0"	"02329"	"COL1A1_001774"	"g.48269925G>T"	""	""	""	"COL1A1(NM_000088.3):c.1930-36C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982612"	"0"	"30"	"17"	"48270160"	"48270160"	"subst"	"0.000503762"	"02329"	"COL1A1_001513"	"g.48270160C>T"	""	""	""	"COL1A1(NM_000088.3):c.1873G>A (p.A625T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982613"	"0"	"50"	"17"	"48272137"	"48272137"	"subst"	"0"	"01804"	"COL1A1_001775"	"g.48272137C>T"	""	""	""	"COL1A1(NM_000088.4):c.1406G>A (p.(Arg469Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982614"	"0"	"30"	"17"	"48273128"	"48273128"	"subst"	"0"	"02329"	"COL1A1_001776"	"g.48273128T>C"	""	""	""	"COL1A1(NM_000088.3):c.1057-102A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982615"	"0"	"30"	"17"	"48273490"	"48273490"	"subst"	"0.000101657"	"02329"	"COL1A1_001777"	"g.48273490C>G"	""	""	""	"COL1A1(NM_000088.3):c.1002+26G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982616"	"0"	"30"	"17"	"48273535"	"48273535"	"subst"	"0"	"01804"	"COL1A1_001778"	"g.48273535G>A"	""	""	""	"COL1A1(NM_000088.4):c.983C>T (p.(Thr328Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982617"	"0"	"50"	"17"	"48276922"	"48276922"	"subst"	"8.12229E-6"	"01804"	"COL1A1_001779"	"g.48276922C>T"	""	""	""	"COL1A1(NM_000088.4):c.328G>A (p.(Val110Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982618"	"0"	"50"	"17"	"48276924"	"48276924"	"subst"	"8.12222E-6"	"01804"	"COL1A1_001330"	"g.48276924C>T"	""	""	""	"COL1A1(NM_000088.4):c.326G>A (p.(Gly109Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982619"	"0"	"30"	"17"	"48278815"	"48278815"	"subst"	"0"	"02329"	"COL1A1_001780"	"g.48278815C>T"	""	""	""	"COL1A1(NM_000088.3):c.60G>A (p.T20=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000985214"	"0"	"50"	"17"	"48273328"	"48273328"	"subst"	"0"	"03779"	"COL1A1_000049"	"g.48273328C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs66664580"	"0"	""	""	""	""	"VUS"	""
"0000986101"	"0"	"90"	"17"	"48264450"	"48264450"	"del"	"0"	"03779"	"COL1A1_001781"	"g.48264450del"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000987842"	"0"	"90"	"17"	"48277160"	"48277164"	"dup"	"0"	"03779"	"COL1A1_001782"	"g.48277160_48277164dup"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000989356"	"0"	"70"	"17"	"48273336"	"48273336"	"subst"	"0"	"03544"	"COL1A1_001783"	"g.48273336C>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.50195975C>G"	"{CV:3362885}"	"likely pathogenic"	"ACMG"
"0001003375"	"0"	"50"	"17"	"48263313"	"48263313"	"subst"	"0"	"01804"	"COL1A1_001784"	"g.48263313C>T"	""	""	""	"COL1A1(NM_000088.3):c.4074G>A (p.(Met1358Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003376"	"0"	"50"	"17"	"48263321"	"48263321"	"subst"	"0"	"01804"	"COL1A1_001785"	"g.48263321G>A"	""	""	""	"COL1A1(NM_000088.3):c.4066C>T (p.(Arg1356Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003377"	"0"	"50"	"17"	"48264037"	"48264037"	"subst"	"0"	"02329"	"COL1A1_001786"	"g.48264037G>A"	""	""	""	"COL1A1(NM_000088.3):c.3778C>T (p.R1260C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003378"	"0"	"30"	"17"	"48264082"	"48264082"	"subst"	"2.44063E-5"	"01804"	"COL1A1_001787"	"g.48264082T>A"	""	""	""	"COL1A1(NM_000088.3):c.3733A>T (p.(Ile1245Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003379"	"0"	"50"	"17"	"48264127"	"48264127"	"subst"	"8.12308E-6"	"01804"	"COL1A1_001154"	"g.48264127C>T"	""	""	""	"COL1A1(NM_000088.3):c.3688G>A (p.(Glu1230Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003380"	"0"	"30"	"17"	"48264220"	"48264220"	"subst"	"5.68708E-5"	"01804"	"COL1A1_000701"	"g.48264220T>C"	""	""	""	"COL1A1(NM_000088.3):c.3595A>G (p.(Ser1199Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003381"	"0"	"30"	"17"	"48264286"	"48264286"	"subst"	"2.04187E-5"	"01804"	"COL1A1_001788"	"g.48264286G>A"	""	""	""	"COL1A1(NM_000088.3):c.3532-3C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003382"	"0"	"30"	"17"	"48264845"	"48264845"	"subst"	"0.000134149"	"01804"	"COL1A1_001789"	"g.48264845T>G"	""	""	""	"COL1A1(NM_000088.3):c.3423A>C (p.(Arg1141Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003383"	"0"	"50"	"17"	"48264849"	"48264849"	"subst"	"0"	"01804"	"COL1A1_001790"	"g.48264849G>A"	""	""	""	"COL1A1(NM_000088.3):c.3419C>T (p.(Pro1140Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003384"	"0"	"50"	"17"	"48267240"	"48267240"	"subst"	"0"	"01804"	"COL1A1_001772"	"g.48267240G>A"	""	""	""	"COL1A1(NM_000088.3):c.2593C>T (p.(Arg865Cys), p.R865C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003385"	"0"	"30"	"17"	"48267382"	"48267382"	"subst"	"3.25836E-5"	"01804"	"COL1A1_001753"	"g.48267382C>T"	""	""	""	"COL1A1(NM_000088.3):c.2539G>A (p.(Ala847Thr), p.A847T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003386"	"0"	"90"	"17"	"48267470"	"48267470"	"subst"	"0"	"02329"	"COL1A1_001791"	"g.48267470C>A"	""	""	""	"COL1A1(NM_000088.3):c.2452-1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001003387"	"0"	"30"	"17"	"48270269"	"48270269"	"subst"	"0"	"02329"	"COL1A1_001792"	"g.48270269C>T"	""	""	""	"COL1A1(NM_000088.3):c.1822-58G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003388"	"0"	"30"	"17"	"48270355"	"48270355"	"subst"	"0.00185274"	"01804"	"COL1A1_000508"	"g.48270355G>A"	""	""	""	"COL1A1(NM_000088.3):c.1821C>T (p.(Val607Val), p.V607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003389"	"0"	"30"	"17"	"48271692"	"48271692"	"subst"	"8.12717E-6"	"02329"	"COL1A1_001793"	"g.48271692G>A"	""	""	""	"COL1A1(NM_000088.3):c.1614+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003390"	"0"	"50"	"17"	"48271741"	"48271741"	"subst"	"0.000194956"	"01804"	"COL1A1_001794"	"g.48271741C>T"	""	""	""	"COL1A1(NM_000088.3):c.1583G>A (p.(Arg528His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003391"	"0"	"50"	"17"	"48271802"	"48271802"	"subst"	"1.21888E-5"	"01804"	"COL1A1_001264"	"g.48271802C>T"	""	""	""	"COL1A1(NM_000088.3):c.1522G>A (p.(Ala508Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003392"	"0"	"90"	"17"	"48272107"	"48272107"	"subst"	"0"	"02327"	"COL1A1_001795"	"g.48272107C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001003393"	"0"	"30"	"17"	"48272622"	"48272622"	"subst"	"1.64142E-5"	"01804"	"COL1A1_001796"	"g.48272622C>T"	""	""	""	"COL1A1(NM_000088.3):c.1270G>A (p.(Gly424Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003394"	"0"	"30"	"17"	"48272643"	"48272643"	"subst"	"0.000696685"	"01804"	"COL1A1_000084"	"g.48272643G>C"	""	""	""	"COL1A1(NM_000088.3):c.1249C>G (p.(Pro417Ala), p.P417A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003395"	"0"	"30"	"17"	"48273021"	"48273021"	"subst"	"4.07179E-5"	"01804"	"COL1A1_001797"	"g.48273021T>A"	""	""	""	"COL1A1(NM_000088.3):c.1062A>T (p.(Glu354Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003396"	"0"	"50"	"17"	"48273840"	"48273840"	"subst"	"0"	"01804"	"COL1A1_001798"	"g.48273840C>T"	""	""	""	"COL1A1(NM_000088.3):c.903+5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003397"	"0"	"90"	"17"	"48276616"	"48276616"	"subst"	"0"	"02329"	"COL1A1_000945"	"g.48276616C>A"	""	""	""	"COL1A1(NM_000088.3):c.442G>T (p.G148*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001003398"	"0"	"30"	"17"	"48276630"	"48276630"	"subst"	"2.71818E-5"	"01804"	"COL1A1_001613"	"g.48276630G>C"	""	""	""	"COL1A1(NM_000088.3):c.428C>G (p.P143R, p.(Pro143Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003399"	"0"	"30"	"17"	"48276667"	"48276667"	"subst"	"0"	"01804"	"COL1A1_001799"	"g.48276667G>C"	""	""	""	"COL1A1(NM_000088.3):c.391C>G (p.(Arg131Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003400"	"0"	"90"	"17"	"48276823"	"48276823"	"subst"	"0"	"02329"	"COL1A1_000911"	"g.48276823T>C"	""	""	""	"COL1A1(NM_000088.3):c.334-9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001007463"	"0"	"70"	"17"	"48265328"	"48265328"	"subst"	"5.72078E-5"	"00006"	"COL1A1_000942"	"g.48265328C>T"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs781491172"	"0"	""	""	"g.50187967C>T"	""	"VUS"	""
"0001007464"	"0"	"70"	"17"	"48269160"	"48269160"	"subst"	"0"	"00006"	"COL1A1_001505"	"g.48269160C>T"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs372215246"	"0"	""	""	"g.50191799C>T"	""	"VUS"	""
"0001007551"	"0"	"70"	"17"	"48266125"	"48266125"	"subst"	"0"	"00006"	"COL1A1_001800"	"g.48266125C>T"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs1906792814"	"0"	""	""	"g.50188764C>T"	""	"VUS"	""
"0001007561"	"0"	"70"	"17"	"48267240"	"48267240"	"subst"	"0"	"00006"	"COL1A1_001772"	"g.48267240G>A"	""	"{PMID:Mansoorshahi 2024:39226896}"	""	""	""	"Germline"	""	"rs1555572582"	"0"	""	""	"g.50189879G>A"	""	"VUS"	""
"0001011367"	"0"	"90"	"17"	"48274590"	"48274590"	"del"	"0"	"03779"	"COL1A1_001801"	"g.48274590del"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001015563"	"0"	"70"	"17"	"48266561"	"48266561"	"subst"	"0"	"02329"	"COL1A1_001802"	"g.48266561C>T"	""	""	""	"COL1A1(NM_000088.3):c.2905G>A (p.E969K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001015564"	"0"	"30"	"17"	"48270048"	"48270048"	"subst"	"0.000227396"	"02329"	"COL1A1_001512"	"g.48270048C>T"	""	""	""	"COL1A1(NM_000088.3):c.1882G>A (p.A628T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015565"	"0"	"90"	"17"	"48271356"	"48271356"	"subst"	"0"	"02327"	"COL1A1_001803"	"g.48271356C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001015566"	"0"	"30"	"17"	"48272100"	"48272100"	"subst"	"1.13569E-5"	"02329"	"COL1A1_001804"	"g.48272100G>A"	""	""	""	"COL1A1(NM_000088.3):c.1443C>T (p.P481=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015567"	"0"	"50"	"17"	"48272948"	"48272948"	"subst"	"0"	"02329"	"COL1A1_001805"	"g.48272948C>T"	""	""	""	"COL1A1(NM_000088.3):c.1135G>A (p.A379T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015568"	"0"	"90"	"17"	"48273729"	"48273729"	"subst"	"0"	"02329"	"COL1A1_001806"	"g.48273729C>G"	""	""	""	"COL1A1(NM_000088.3):c.904-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001020157"	"21"	"99"	"17"	"48267611"	"48267611"	"subst"	"0"	"00085"	"COL1A1_000327"	"g.48267611G>A"	""	"{PMID:Schouw et al., 2024:39711104}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0001020267"	"0"	"70"	"17"	"48269879"	"48269879"	"subst"	"0"	"03779"	"COL1A1_001807"	"g.48269879C>G"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001026959"	"0"	"30"	"17"	"48262886"	"48262886"	"subst"	"4.47642E-5"	"02329"	"COL1A1_001808"	"g.48262886C>T"	""	""	""	"COL1A1(NM_000088.3):c.4372G>A (p.V1458I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026960"	"0"	"90"	"17"	"48263252"	"48263252"	"subst"	"0"	"02329"	"COL1A1_001809"	"g.48263252G>A"	""	""	""	"COL1A1(NM_000088.3):c.4135C>T (p.Q1379*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026961"	"0"	"50"	"17"	"48265296"	"48265296"	"subst"	"1.64031E-5"	"02325"	"COL1A1_001810"	"g.48265296C>T"	""	""	""	"COL1A1(NM_000088.4):c.3310G>A (p.D1104N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001026962"	"0"	"30"	"17"	"48265475"	"48265475"	"subst"	"0.00616391"	"02329"	"COL1A1_000509"	"g.48265475A>G"	""	""	""	"COL1A1(NM_000088.3):c.3243T>C (p.V1081=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026963"	"0"	"90"	"17"	"48265492"	"48265492"	"subst"	"0"	"02329"	"COL1A1_000196"	"g.48265492C>T"	""	""	""	"COL1A1(NM_000088.3):c.3226G>A (p.G1076S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026964"	"0"	"90"	"17"	"48265957"	"48265965"	"dup"	"0"	"02325"	"COL1A1_000341"	"g.48265957_48265965dup"	""	""	""	"COL1A1(NM_000088.4):c.3150_3158dupTCCTGGTGC (p.A1053_G1055dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026965"	"0"	"70"	"17"	"48266561"	"48266561"	"subst"	"0"	"02327"	"COL1A1_001802"	"g.48266561C>T"	""	""	""	"COL1A1(NM_000088.3):c.2905G>A (p.E969K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001026966"	"0"	"90"	"17"	"48266882"	"48266882"	"del"	"0"	"02329"	"COL1A1_001350"	"g.48266882del"	""	""	""	"COL1A1(NM_000088.3):c.2685delT (p.G896Afs*212)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026967"	"0"	"50"	"17"	"48267072"	"48267072"	"subst"	"0"	"02326"	"COL1A1_001811"	"g.48267072C>T"	""	""	""	"COL1A1(NM_000088.3):c.2635G>A (p.A879T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001026968"	"0"	"30"	"17"	"48267238"	"48267238"	"subst"	"0.000547249"	"02329"	"COL1A1_001490"	"g.48267238G>A"	""	""	""	"COL1A1(NM_000088.3):c.2595C>T (p.R865=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026969"	"0"	"30"	"17"	"48268166"	"48268166"	"subst"	"2.03679E-5"	"02329"	"COL1A1_001812"	"g.48268166C>T"	""	""	""	"COL1A1(NM_000088.3):c.2343+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026970"	"0"	"30"	"17"	"48268247"	"48268247"	"subst"	"8.93728E-5"	"02329"	"COL1A1_001813"	"g.48268247G>A"	""	""	""	"COL1A1(NM_000088.3):c.2274C>T (p.G758=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026971"	"0"	"10"	"17"	"48273335"	"48273335"	"subst"	"0.000614494"	"02329"	"COL1A1_001760"	"g.48273335A>T"	""	""	""	"COL1A1(NM_000088.3):c.1005T>A (p.G335=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001026972"	"0"	"90"	"17"	"48273524"	"48273524"	"subst"	"0"	"02329"	"COL1A1_000046"	"g.48273524C>T"	""	""	""	"COL1A1(NM_000088.3):c.994G>A (p.G332R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026973"	"0"	"90"	"17"	"48273698"	"48273698"	"subst"	"0"	"02329"	"COL1A1_000043"	"g.48273698G>A"	""	""	""	"COL1A1(NM_000088.3):c.934C>T (p.R312C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026974"	"0"	"30"	"17"	"48273737"	"48273737"	"subst"	"0.00754999"	"02329"	"COL1A1_001198"	"g.48273737C>A"	""	""	""	"COL1A1(NM_000088.3):c.904-9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026975"	"0"	"90"	"17"	"48273891"	"48273891"	"subst"	"0"	"02329"	"COL1A1_000725"	"g.48273891T>C"	""	""	""	"COL1A1(NM_000088.3):c.859-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026976"	"0"	"90"	"17"	"48274558"	"48274558"	"del"	"0"	"02329"	"COL1A1_001814"	"g.48274558del"	""	""	""	"COL1A1(NM_000088.3):c.735delG (p.P246Lfs*19)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026977"	"0"	"90"	"17"	"48276622"	"48276622"	"dup"	"0"	"02329"	"COL1A1_000581"	"g.48276622dup"	""	""	""	"COL1A1(NM_000088.3):c.441dupC (p.G148Rfs*21)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026978"	"0"	"50"	"17"	"48276630"	"48276630"	"subst"	"2.71818E-5"	"02326"	"COL1A1_001613"	"g.48276630G>C"	""	""	""	"COL1A1(NM_000088.3):c.428C>G (p.P143R, p.(Pro143Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041953"	"0"	"30"	"17"	"48263881"	"48263881"	"subst"	"4.06233E-6"	"02329"	"COL1A1_001815"	"g.48263881A>G"	""	""	""	"COL1A1(NM_000088.3):c.3815-13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041954"	"0"	"30"	"17"	"48264214"	"48264214"	"subst"	"2.43716E-5"	"01804"	"COL1A1_001816"	"g.48264214G>A"	""	""	""	"COL1A1(NM_000088.4):c.3601C>T (p.(Leu1201=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041955"	"0"	"30"	"17"	"48266141"	"48266141"	"subst"	"0.000182771"	"01804"	"COL1A1_001480"	"g.48266141C>G"	""	""	""	"COL1A1(NM_000088.3):c.3061G>C (p.E1021Q), COL1A1(NM_000088.4):c.3061G>C (p.(Glu1021Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041956"	"0"	"30"	"17"	"48266365"	"48266365"	"subst"	"7.31392E-5"	"02329"	"COL1A1_001582"	"g.48266365G>T"	""	""	""	"COL1A1(NM_000088.3):c.2944C>A (p.P982T), COL1A1(NM_000088.4):c.2944C>A (p.(Pro982Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041957"	"0"	"50"	"17"	"48272114"	"48272114"	"subst"	"5.57787E-6"	"02325"	"COL1A1_001817"	"g.48272114G>C"	""	""	""	"COL1A1(NM_000088.4):c.1429C>G (p.P477A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041958"	"0"	"30"	"17"	"48272465"	"48272465"	"subst"	"0"	"01804"	"COL1A1_001818"	"g.48272465C>A"	""	""	""	"COL1A1(NM_000088.4):c.1300-4G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041959"	"0"	"50"	"17"	"48276599"	"48276616"	"dup"	"0"	"01804"	"COL1A1_001819"	"g.48276599_48276616dup"	""	""	""	"COL1A1(NM_000088.4):c.444_461dup (p.(Pro149_Gly154dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041960"	"0"	"50"	"17"	"48276622"	"48276622"	"subst"	"1.9553E-5"	"01804"	"COL1A1_001749"	"g.48276622G>A"	""	""	""	"COL1A1(NM_000088.3):c.436C>T (p.P146S), COL1A1(NM_000088.4):c.436C>T (p.(Pro146Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041961"	"0"	"50"	"17"	"48276622"	"48276622"	"subst"	"9.77651E-6"	"01804"	"COL1A1_000493"	"g.48276622G>T"	""	""	""	"COL1A1(NM_000088.4):c.436C>A (p.(Pro146Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045541"	"0"	"70"	"17"	"48266373"	"48266373"	"subst"	"0"	"03779"	"COL1A1_001820"	"g.48266373T>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0001046647"	"0"	"30"	"17"	"48276573"	"48276573"	"subst"	"0"	"02326"	"COL1A1_001604"	"g.48276573G>C"	""	""	""	"COL1A1(NM_000088.3):c.471+14C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001048212"	"1"	"90"	"17"	"48276952"	"48276952"	"subst"	"0"	"00006"	"COL1A1_000552"	"g.48276952C>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2"	"Germline"	""	""	"0"	""	""	"g.50199591C>G"	""	"pathogenic"	""
"0001048213"	"0"	"70"	"17"	"48276690"	"48276690"	"subst"	"0"	"00006"	"COL1A1_001354"	"g.48276690T>C"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2, PP3, PP5, PP1"	"De novo"	""	""	"0"	""	""	"g.50199329T>C"	"VCV000035921.1"	"likely pathogenic"	""
"0001048214"	"1"	"90"	"17"	"48275531"	"48275531"	"del"	"0"	"00006"	"COL1A1_000293"	"g.48275531del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"579delT"	"ACMG PM2, PP3, BP1"	"Germline"	""	""	"0"	""	""	"g.50198170del"	"VCV000035925.5"	"pathogenic"	""
"0001048215"	"0"	"90"	"17"	"48275521"	"48275521"	"subst"	"0"	"00006"	"COL1A1_001433"	"g.48275521C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, PP2"	"De novo"	""	""	"0"	""	""	"g.50198160C>T"	""	"pathogenic"	""
"0001048216"	"0"	"70"	"17"	"48275345"	"48275345"	"subst"	"0"	"00006"	"COL1A1_000008"	"g.48275345C>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"De novo"	""	""	"0"	""	""	"g.50197984C>G"	""	"likely pathogenic"	""
"0001048217"	"0"	"90"	"17"	"48275344"	"48275344"	"subst"	"0"	"00006"	"COL1A1_000009"	"g.48275344C>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50197983C>A"	"VCV000456792.3"	"pathogenic"	""
"0001048218"	"0"	"70"	"17"	"48275339"	"48275339"	"subst"	"0.00336225"	"00006"	"COL1A1_000010"	"g.48275339G>C"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2, PP3, PP5, PM6"	"De novo"	""	""	"0"	""	""	"g.50197978G>C"	"VCV000218424.7"	"likely pathogenic"	""
"0001048219"	"0"	"50"	"17"	"48275109"	"48275109"	"subst"	"0"	"00006"	"COL1A1_001833"	"g.48275109C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.50197748C>T"	""	"VUS"	""
"0001048220"	"0"	"70"	"17"	"48274405"	"48274405"	"subst"	"0"	"00006"	"COL1A1_001117"	"g.48274405C>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"De novo"	""	""	"0"	""	""	"g.50197044C>A"	""	"likely pathogenic"	""
"0001048221"	"1"	"90"	"17"	"48274022"	"48274022"	"subst"	"0"	"00006"	"COL1A1_000028"	"g.48274022C>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"Germline"	""	""	"0"	""	""	"g.50196661C>A"	"VCV000017285.1"	"pathogenic"	""
"0001048222"	"0"	"90"	"17"	"48273844"	"48273844"	"subst"	"4.06128E-6"	"00006"	"COL1A1_000625"	"g.48273844C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50196483C>T"	"VCV000456799.1"	"pathogenic"	""
"0001048223"	"0"	"70"	"17"	"48273559"	"48273559"	"subst"	"0"	"00006"	"COL1A1_000254"	"g.48273559C>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2,PP3, PM6"	"De novo"	""	""	"0"	""	""	"g.50196198C>A"	"VCV000194456.1"	"likely pathogenic"	""
"0001048224"	"1"	"90"	"17"	"48273328"	"48273328"	"subst"	"0"	"00006"	"COL1A1_001832"	"g.48273328C>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"Germline"	""	""	"0"	""	""	"g.50195967C>G"	""	"pathogenic"	""
"0001048225"	"1"	"90"	"17"	"48273002"	"48273002"	"subst"	"0"	"00006"	"COL1A1_000056"	"g.48273002G>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP2, PP3"	"Germline"	""	""	"0"	""	""	"g.50195641G>A"	"VCV000425593.4"	"pathogenic"	""
"0001048226"	"0"	"90"	"17"	"48272955"	"48272955"	"del"	"0"	"00006"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"1128delT"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50195594del"	"VCV000580344.2"	"pathogenic"	""
"0001048227"	"1"	"90"	"17"	"48272955"	"48272955"	"del"	"0"	"00006"	"COL1A1_000281"	"g.48272955del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"1128delT"	""	"Germline"	""	""	"0"	""	""	"g.50195594del"	"VCV000580344.2"	"pathogenic"	""
"0001048228"	"0"	"90"	"17"	"48272927"	"48272927"	"subst"	"0"	"00006"	"COL1A1_000395"	"g.48272927C>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, PP2"	"De novo"	""	""	"0"	""	""	"g.50195566C>G"	""	"pathogenic"	""
"0001048229"	"1"	"70"	"17"	"48272924"	"48272927"	"del"	"0"	"00006"	"COL1A1_000396"	"g.48272924_48272927del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"1155+3_1155+6delAAGT"	"ACMG PVS1, PM2,PP3, PP5, PM6"	"Germline"	""	""	"0"	""	""	"g.50195563_50195566del"	"VCV000449401.2"	"likely pathogenic"	""
"0001048230"	"0"	"90"	"17"	"48272168"	"48272168"	"del"	"0"	"00006"	"COL1A1_000860"	"g.48272168del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"1379delC"	"ACMG PM2, BP4"	"De novo"	""	""	"0"	""	""	"g.50194807del"	"VCV000425582.1"	"pathogenic"	""
"0001048231"	"1"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"00006"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"Germline"	""	""	"0"	""	""	"g.50194375C>T"	"VCV000017324.1"	"pathogenic"	""
"0001048232"	"0"	"90"	"17"	"48271736"	"48271736"	"subst"	"0"	"00006"	"COL1A1_000102"	"g.48271736C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"De novo"	""	""	"0"	""	""	"g.50194375C>T"	"VCV000017324.1"	"pathogenic"	""
"0001048233"	"1"	"90"	"17"	"48270384"	"48270384"	"subst"	"0"	"00006"	"COL1A1_000133"	"g.48270384G>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP2, PP3"	"Germline"	""	""	"0"	""	""	"g.50193023G>A"	"VCV000425603.1"	"pathogenic"	""
"0001048234"	"0"	"50"	"17"	"48270381"	"48270381"	"subst"	"0"	"00006"	"COL1A1_001831"	"g.48270381C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2, PP3 PM6"	"De novo"	""	""	"0"	""	""	"g.50193020C>T"	""	"VUS"	""
"0001048235"	"1"	"90"	"17"	"48269890"	"48269890"	"subst"	"0"	"00006"	"COL1A1_001830"	"g.48269890C>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192529C>A"	"VCV000526866"	"pathogenic"	""
"0001048236"	"1"	"90"	"17"	"48269890"	"48269890"	"subst"	"0"	"00006"	"COL1A1_001830"	"g.48269890C>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.50192529C>A"	"VCV000526866"	"pathogenic"	""
"0001048237"	"1"	"90"	"17"	"48269208"	"48269208"	"del"	"0"	"00006"	"COL1A1_000320"	"g.48269208del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"2068delC"	"ACMG"	"Germline"	""	""	"0"	""	""	"g.50191847del"	""	"pathogenic"	""
"0001048238"	"1"	"90"	"17"	"48269208"	"48269208"	"del"	"0"	"00006"	"COL1A1_000320"	"g.48269208del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"2068delC"	"ACMG"	"Germline"	""	""	"0"	""	""	"g.50191847del"	""	"pathogenic"	""
"0001048239"	"0"	"90"	"17"	"48268827"	"48268827"	"del"	"0"	"00006"	"COL1A1_001829"	"g.48268827del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"2154delC"	"ACMG"	"De novo"	""	""	"0"	""	""	"g.50191466del"	""	"pathogenic"	""
"0001048240"	"0"	"50"	"17"	"48268239"	"48268239"	"subst"	"0"	"00006"	"COL1A1_000618"	"g.48268239C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2, PP3, PM6"	"De novo"	""	""	"0"	""	""	"g.50190878C>T"	""	"VUS"	""
"0001048241"	"0"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"00006"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.50190861C>T"	"VCV000546096.7"	"pathogenic"	""
"0001048242"	"0"	"90"	"17"	"48268222"	"48268222"	"subst"	"0"	"00006"	"COL1A1_000118"	"g.48268222C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50190861C>T"	"VCV000546096.7"	"pathogenic"	""
"0001048243"	"0"	"90"	"17"	"48268179"	"48268186"	"del"	"0"	"00006"	"COL1A1_001828"	"g.48268179_48268186del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"2340_2343+4delCAAGGTGA"	"ACMG PM1, PM2, PM5, PP2, PP3, PP5, PM6"	"De novo"	""	""	"0"	""	""	"g.50190818_50190825del"	""	"pathogenic"	""
"0001048244"	"0"	"50"	"17"	"48267897"	"48267897"	"subst"	"0"	"00006"	"COL1A1_001827"	"g.48267897T>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.50190536T>G"	""	"VUS"	""
"0001048245"	"0"	"70"	"17"	"48267450"	"48267450"	"subst"	"0"	"00006"	"COL1A1_000643"	"g.48267450C>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"De novo"	""	""	"0"	""	""	"g.50190089C>G"	""	"likely pathogenic"	""
"0001048246"	"1"	"70"	"17"	"48266852"	"48266852"	"del"	"0"	"00006"	"COL1A1_001826"	"g.48266852del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"2715delC"	"ACMG"	"Germline"	""	""	"0"	""	""	"g.50189491del"	""	"likely pathogenic"	""
"0001048247"	"0"	"50"	"17"	"48266780"	"48266788"	"dup"	"0"	"00006"	"COL1A1_001825"	"g.48266780_48266788dup"	""	"{PMID:Tuysuz 2022:34902613}"	""	"2786_2787insCCCCCCTGG"	"ACMG PVS1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.50189419_50189427dup"	""	"VUS"	""
"0001048248"	"0"	"90"	"17"	"48266612"	"48266612"	"subst"	"0"	"00006"	"COL1A1_001824"	"g.48266612G>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM1, PM2, PP5"	"De novo"	""	""	"0"	""	""	"g.50189251G>A"	""	"pathogenic"	""
"0001048249"	"0"	"50"	"17"	"48266352"	"48266352"	"subst"	"0"	"00006"	"COL1A1_001823"	"g.48266352C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PVS1, PM2, PP3, PP1"	"De novo"	""	""	"0"	""	""	"g.50188991C>T"	""	"VUS"	""
"0001048250"	"0"	"90"	"17"	"48266126"	"48266126"	"subst"	"0"	"00006"	"COL1A1_000244"	"g.48266126G>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"De novo"	""	""	"0"	""	""	"g.50188765G>A"	"VCV000035920.10"	"pathogenic"	""
"0001048251"	"0"	"90"	"17"	"48265980"	"48265980"	"subst"	"0"	"00006"	"COL1A1_000186"	"g.48265980C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"De novo"	""	""	"0"	""	""	"g.50188619C>T"	"VCV000017330.4"	"pathogenic"	""
"0001048252"	"0"	"90"	"17"	"48265936"	"48265936"	"del"	"0"	"00006"	"COL1A1_000345"	"g.48265936del"	""	"{PMID:Tuysuz 2022:34902613}"	""	"3162delT"	"ACMG PM2, PP3, BP1"	"De novo"	""	""	"0"	""	""	"g.50188575del"	"VCV000285398.2"	"pathogenic"	""
"0001048253"	"0"	"50"	"17"	"48265889"	"48265889"	"dup"	"0"	"00006"	"COL1A1_001467"	"g.48265889dup"	""	"{PMID:Tuysuz 2022:34902613}"	""	"3207+2dupT"	"ACMG PM1, PM2,PM4, PP3, PP5"	"De novo"	""	""	"0"	""	""	"g.50188528dup"	""	"VUS"	""
"0001048254"	"0"	"90"	"17"	"48264847"	"48264847"	"subst"	"0"	"00006"	"COL1A1_000253"	"g.48264847G>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"De novo"	""	""	"0"	""	""	"g.50187486G>A"	"VCV000017337.10"	"pathogenic"	""
"0001048255"	"0"	"70"	"17"	"48264446"	"48264446"	"subst"	"0"	"00006"	"COL1A1_001822"	"g.48264446C>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"De novo"	""	""	"0"	""	""	"g.50187085C>A"	""	"likely pathogenic"	""
"0001048256"	"0"	"90"	"17"	"48264402"	"48264402"	"subst"	"0"	"00006"	"COL1A1_000214"	"g.48264402C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, BP4, PM6"	"De novo"	""	""	"0"	""	""	"g.50187041C>T"	"VCV000425589.2"	"pathogenic"	""
"0001048257"	"0"	"90"	"17"	"48264375"	"48264375"	"subst"	"0"	"00006"	"COL1A1_000449"	"g.48264375C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.50187014C>T"	"VCV000568906.1"	"pathogenic"	""
"0001048258"	"1"	"90"	"17"	"48263336"	"48263336"	"subst"	"0"	"00006"	"COL1A1_000977"	"g.48263336G>A"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"Germline"	""	""	"0"	""	""	"g.50185975G>A"	""	"pathogenic"	""
"0001048259"	"0"	"70"	"17"	"48263150"	"48263150"	"subst"	"0"	"00006"	"COL1A1_000276"	"g.48263150C>T"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PM4, PP3"	"De novo"	""	""	"0"	""	""	"g.50185789C>T"	"VCV000949210.2"	"likely pathogenic"	""
"0001048260"	"1"	"90"	"17"	"48262920"	"48262935"	"dup"	"0"	"00006"	"COL1A1_001821"	"g.48262920_48262935dup"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG"	"Germline"	""	""	"0"	""	""	"g.50185559_50185574dup"	""	"pathogenic"	""
"0001048261"	"0"	"90"	"17"	"48262867"	"48262867"	"subst"	"0"	"00006"	"COL1A1_000279"	"g.48262867A>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"De novo"	""	""	"0"	""	""	"g.50185506A>G"	"VCV000017332.1"	"pathogenic"	""
"0001048262"	"0"	"90"	"17"	"48262867"	"48262867"	"subst"	"0"	"00006"	"COL1A1_000279"	"g.48262867A>G"	""	"{PMID:Tuysuz 2022:34902613}"	""	""	"ACMG PM2, PP3, BP1"	"De novo"	""	""	"0"	""	""	"g.50185506A>G"	"VCV000017332.1"	"pathogenic"	""
"0001048263"	"0"	"90"	"17"	"0"	"0"	""	""	"00006"	"MYH2_000008"	"g.?"	""	"{PMID:Tuysuz 2022:34902613}"	""	"whole gene deletion"	"ACMG"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001056070"	"0"	"50"	"17"	"48264398"	"48264398"	"subst"	"0"	"01804"	"COL1A1_001834"	"g.48264398C>G"	""	""	""	"COL1A1(NM_000088.4):c.3509G>C (p.(Arg1170Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056071"	"0"	"50"	"17"	"48264404"	"48264404"	"subst"	"8.17715E-6"	"01804"	"COL1A1_001835"	"g.48264404C>T"	""	""	""	"COL1A1(NM_000088.4):c.3503G>A (p.(Arg1168His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056072"	"0"	"50"	"17"	"48265329"	"48265329"	"subst"	"2.86114E-5"	"01804"	"COL1A1_000250"	"g.48265329G>A"	""	""	""	"COL1A1(NM_000088.4):c.3277C>T (p.(Arg1093Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001056073"	"0"	"30"	"17"	"48271408"	"48271408"	"subst"	"1.21867E-5"	"01804"	"COL1A1_001836"	"g.48271408G>T"	""	""	""	"COL1A1(NM_000088.4):c.1669-6C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001056074"	"0"	"90"	"17"	"48274406"	"48274406"	"subst"	"0"	"01804"	"COL1A1_000022"	"g.48274406C>T"	""	""	""	"COL1A1(NM_000088.4):c.769G>A (p.(Gly257Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""


## 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 COL1A1
## Count = 4671
"{{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/Consequence/Predicted}}"	"{{VariantOnTranscript/Protein/Legacy}}"
"0000079624"	"00005455"	"00"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	""	""	""
"0000128484"	"00005455"	"97"	"3652"	"0"	"3652"	"0"	"c.3652G>A"	"r.(?)"	"p.(Ala1218Thr)"	""	""	""
"0000128951"	"00005455"	"77"	"3815"	"-3"	"3815"	"-3"	"c.3815-3C>G"	"r.spl?"	"p.?"	""	""	""
"0000171994"	"00005455"	"10"	"4018"	"0"	"4018"	"0"	"c.4018G>A"	"r.(?)"	"p.(Gly1340Ser)"	"51"	""	""
"0000222080"	"00005455"	"79"	"3542"	"0"	"3543"	"0"	"c.3542_3543delinsAA"	"r.(?)"	"p.(Gly1181Glu)"	"48"	""	""
"0000248316"	"00005455"	"10"	"2298"	"0"	"2298"	"0"	"c.2298T>C"	"r.(?)"	"p.(Thr766=)"	""	""	""
"0000250051"	"00005455"	"10"	"2298"	"0"	"2298"	"0"	"c.2298T>C"	"r.(?)"	"p.(Thr766=)"	""	""	""
"0000250129"	"00005455"	"10"	"3459"	"0"	"3459"	"0"	"c.3459T>C"	"r.(?)"	"p.(Asp1153=)"	""	""	""
"0000250233"	"00005455"	"10"	"1930"	"-14"	"1930"	"-14"	"c.1930-14T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000250234"	"00005455"	"10"	"859"	"-14"	"859"	"-14"	"c.859-14T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000250483"	"00005455"	"30"	"103"	"16"	"103"	"16"	"c.103+16T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000250512"	"00005455"	"90"	"3477"	"0"	"3477"	"0"	"c.3477del"	"r.(?)"	"p.(Gly1160AlafsTer79)"	""	""	""
"0000250513"	"00005455"	"90"	"615"	"0"	"615"	"0"	"c.615del"	"r.(?)"	"p.(Gly206ValfsTer59)"	""	""	""
"0000266927"	"00005455"	"10"	"298"	"48"	"298"	"54"	"c.298+48_298+54del"	"r.(=)"	"p.(=)"	""	""	""
"0000266928"	"00005455"	"10"	"3223"	"0"	"3223"	"0"	"c.3223="	"r.(=)"	"p.(Ala1075=)"	""	""	""
"0000268242"	"00005455"	"10"	"104"	"-441"	"104"	"-441"	"c.104-441G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268243"	"00005455"	"90"	"1127"	"0"	"1127"	"0"	"c.1127del"	"r.(?)"	"p.(Pro376LeufsTer165)"	""	""	""
"0000268244"	"00005455"	"30"	"1200"	"3"	"1200"	"3"	"c.1200+3A>G"	"r.spl?"	"p.?"	""	""	""
"0000268245"	"00005455"	"10"	"1300"	"-8"	"1300"	"-8"	"c.1300-8C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268246"	"00005455"	"10"	"1300"	"-8"	"1300"	"-8"	"c.1300-8C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268247"	"00005455"	"30"	"1300"	"-9"	"1300"	"-9"	"c.1300-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268248"	"00005455"	"90"	"1337"	"0"	"1337"	"0"	"c.1337G>A"	"r.(?)"	"p.(Gly446Asp)"	""	""	""
"0000268249"	"00005455"	"90"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Ter)"	""	""	""
"0000268250"	"00005455"	"10"	"1615"	"-4"	"1615"	"-4"	"c.1615-4C>A"	"r.spl?"	"p.?"	""	""	""
"0000268251"	"00005455"	"10"	"177"	"0"	"177"	"0"	"c.177G>T"	"r.(?)"	"p.(Arg59=)"	""	""	""
"0000268252"	"00005455"	"10"	"1803"	"0"	"1803"	"0"	"c.1803C>T"	"r.(?)"	"p.(Pro601=)"	""	""	""
"0000268253"	"00005455"	"10"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	""	""	""
"0000268254"	"00005455"	"30"	"1984"	"-6"	"1984"	"-6"	"c.1984-6C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268255"	"00005455"	"50"	"2032"	"0"	"2032"	"0"	"c.2032G>A"	"r.(?)"	"p.(Glu678Lys)"	""	""	""
"0000268256"	"00005455"	"90"	"2039"	"0"	"2039"	"0"	"c.2039del"	"r.(?)"	"p.(Gly680ValfsTer86)"	""	""	""
"0000268257"	"00005455"	"90"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Gly704Ser)"	""	""	""
"0000268258"	"00005455"	"10"	"2175"	"0"	"2175"	"0"	"c.2175C>T"	"r.(?)"	"p.(Gly725=)"	""	""	""
"0000268259"	"00005455"	"90"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	""	""	""
"0000268260"	"00005455"	"30"	"2452"	"-18"	"2452"	"-18"	"c.2452-18C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268261"	"00005455"	"30"	"2467"	"0"	"2467"	"0"	"c.2467C>G"	"r.(?)"	"p.(Pro823Ala)"	""	""	""
"0000268262"	"00005455"	"10"	"2560"	"-18"	"2560"	"-18"	"c.2560-18C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268263"	"00005455"	"10"	"2613"	"14"	"2613"	"14"	"c.2613+14G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268264"	"00005455"	"90"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882Ter)"	""	""	""
"0000268265"	"00005455"	"10"	"298"	"34"	"298"	"34"	"c.298+34del"	"r.(=)"	"p.(=)"	""	""	""
"0000268266"	"00005455"	"10"	"299"	"-20"	"299"	"-20"	"c.299-20C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000268267"	"00005455"	"10"	"3046"	"-6"	"3046"	"-5"	"c.3046-6_3046-5del"	"r.spl?"	"p.?"	""	""	""
"0000268268"	"00005455"	"90"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	""	""	""
"0000268269"	"00005455"	"10"	"3223"	"0"	"3223"	"0"	"c.3223="	"r.(=)"	"p.(Ala1075=)"	""	""	""
"0000268270"	"00005455"	"30"	"3504"	"0"	"3504"	"0"	"c.3504C>T"	"r.(?)"	"p.(Arg1168=)"	""	""	""
"0000268271"	"00005455"	"30"	"3531"	"10"	"3531"	"10"	"c.3531+10C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268272"	"00005455"	"30"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Pro129Ser)"	""	""	""
"0000268273"	"00005455"	"90"	"386"	"0"	"386"	"0"	"c.386del"	"r.(?)"	"p.(Pro129LeufsTer136)"	""	""	""
"0000268274"	"00005455"	"10"	"3897"	"0"	"3897"	"0"	"c.3897C>T"	"r.(?)"	"p.(Cys1299=)"	""	""	""
"0000268275"	"00005455"	"30"	"4018"	"0"	"4018"	"0"	"c.4018G>A"	"r.(?)"	"p.(Gly1340Ser)"	""	""	""
"0000268276"	"00005455"	"10"	"4113"	"0"	"4113"	"0"	"c.4113G>A"	"r.(?)"	"p.(Lys1371=)"	""	""	""
"0000268277"	"00005455"	"10"	"4179"	"0"	"4179"	"0"	"c.4179C>T"	"r.(?)"	"p.(Ser1393=)"	""	""	""
"0000268278"	"00005455"	"10"	"4249"	"-12"	"4249"	"-12"	"c.4249-12G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000268279"	"00005455"	"30"	"42"	"0"	"42"	"0"	"c.42G>C"	"r.(?)"	"p.(Ala14=)"	""	""	""
"0000268280"	"00005455"	"10"	"642"	"18"	"642"	"18"	"c.642+18A>C"	"r.(=)"	"p.(=)"	""	""	""
"0000268281"	"00005455"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220Ter)"	""	""	""
"0000268282"	"00005455"	"10"	"750"	"12"	"750"	"12"	"c.750+12G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000268283"	"00005455"	"30"	"751"	"-6"	"751"	"-6"	"c.751-6C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000273946"	"00005455"	"30"	"1269"	"0"	"1269"	"0"	"c.1269C>T"	"r.(?)"	"p.(Pro423=)"	""	""	""
"0000273947"	"00005455"	"50"	"3107"	"0"	"3107"	"0"	"c.3107G>A"	"r.(?)"	"p.(Arg1036His)"	""	""	""
"0000273948"	"00005455"	"50"	"3176"	"0"	"3176"	"0"	"c.3176C>T"	"r.(?)"	"p.(Pro1059Leu)"	""	""	""
"0000273949"	"00005455"	"30"	"4179"	"0"	"4179"	"0"	"c.4179C>T"	"r.(?)"	"p.(Ser1393=)"	""	""	""
"0000325490"	"00005455"	"50"	"3187"	"0"	"3187"	"0"	"c.3187A>G"	"r.(?)"	"p.(Ser1063Gly)"	""	""	""
"0000345640"	"00005455"	"70"	"3263"	"0"	"3263"	"0"	"c.3263G>A"	"r.(?)"	"p.(Gly1088Glu)"	""	""	""
"0000354930"	"00005455"	"50"	"4387"	"0"	"4387"	"0"	"c.4387T>C"	"r.(?)"	"p.(Phe1463Leu)"	"51"	""	""
"0000394662"	"00005455"	"79"	"797"	"0"	"797"	"0"	"c.797G>T"	"r.(?)"	"p.(Gly266Val)"	"11"	"missense"	""
"0000474917"	"00005455"	"99"	"210"	"0"	"210"	"0"	"c.210C>A"	"r.(?)"	"p.(Cys70*)"	"2"	"nonsense"	""
"0000474918"	"00005455"	"99"	"210"	"0"	"210"	"0"	"c.210C>A"	"r.(?)"	"p.(Cys70*)"	"2"	"nonsense"	""
"0000474919"	"00005455"	"77"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl?"	"p.(=)"	"3i"	""	""
"0000474920"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000474921"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000474922"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000474923"	"00005455"	"99"	"432"	"0"	"432"	"0"	"c.432del"	"r.(?)"	"p.(Gly145Aspfs*120)"	"5"	"frameshift"	""
"0000474924"	"00005455"	"99"	"642"	"1"	"642"	"1"	"c.642+1G>C"	"r.spl"	"p.?"	"8i"	"splicing affected"	""
"0000474925"	"00005455"	"99"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Gly224Ser)"	"9"	"missense"	""
"0000474926"	"00005455"	"77"	"696"	"4"	"696"	"4"	"c.696+4del"	"r.spl?"	"p.?"	"9i"	""	""
"0000477921"	"00005455"	"90"	"103"	"1"	"103"	"1"	"c.103+1G>C"	"r.spl"	"p.?"	"1i"	""	""
"0000477922"	"00005455"	"90"	"104"	"-1"	"104"	"-1"	"c.104-1G>T"	"r.104_126del"	"p.?"	"1i"	""	""
"0000477923"	"00005455"	"90"	"299"	"-2"	"299"	"-2"	"c.299-2A>G"	"r.spl"	"p.?"	"2i"	""	""
"0000477924"	"00005455"	"90"	"299"	"-1"	"299"	"-1"	"c.299-1G>A"	"r.spl"	"p.?"	"2i"	""	""
"0000477925"	"00005455"	"90"	"299"	"-1"	"299"	"-1"	"c.299-1G>A"	"r.spl"	"p.?"	"2i"	""	""
"0000477926"	"00005455"	"90"	"299"	"-1"	"299"	"-1"	"c.299-1G>C"	"r.spl"	"p.?"	"2i"	""	""
"0000477927"	"00005455"	"90"	"333"	"1"	"333"	"1"	"c.333+1G>A"	"r.spl"	"p.?"	"3i"	""	""
"0000477928"	"00005455"	"90"	"333"	"1"	"333"	"1"	"c.333+1G>T"	"r.spl"	"p.?"	"3i"	""	""
"0000477929"	"00005455"	"70"	"333"	"3"	"333"	"3"	"c.333+3A>T"	"r.spl"	"p.?"	"3i"	""	""
"0000477930"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477931"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477932"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477933"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477934"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477935"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477936"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477937"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477938"	"00005455"	"70"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.spl"	"p.(=)"	"3i"	""	""
"0000477939"	"00005455"	"90"	"471"	"1"	"471"	"1"	"c.471+1G>A"	"r.spl"	"p.?"	"5i"	""	""
"0000477940"	"00005455"	"90"	"471"	"1"	"471"	"1"	"c.471+1G>A"	"r.spl"	"p.?"	"5i"	""	""
"0000477941"	"00005455"	"90"	"471"	"1"	"471"	"1"	"c.471+1G>A"	"r.spl"	"p.?"	"5i"	""	""
"0000477942"	"00005455"	"90"	"471"	"1"	"471"	"1"	"c.471+1G>A"	"r.spl"	"p.?"	"5i"	""	""
"0000477943"	"00005455"	"90"	"543"	"1"	"543"	"1"	"c.543+1G>T"	"r.spl"	"p.?"	"6i"	""	""
"0000477944"	"00005455"	"90"	"543"	"2"	"543"	"2"	"c.543+2T>A"	"r.spl"	"p.?"	"6i"	""	""
"0000477945"	"00005455"	"70"	"543"	"5"	"543"	"5"	"c.543+5G>A"	"r.spl"	"p.?"	"6i"	""	""
"0000477946"	"00005455"	"70"	"543"	"5"	"543"	"5"	"c.543+5G>A"	"r.[543_544ins[gugaa;543+6_546+55],543_544ins[gugaa;543+6_546+42]]"	"p.?"	"6i"	""	""
"0000477947"	"00005455"	"90"	"588"	"1"	"588"	"1"	"c.588+1G>A"	"r.544_588del"	"p.?"	"7i"	"splicing affected?"	""
"0000477948"	"00005455"	"90"	"588"	"1"	"588"	"1"	"c.588+1G>A"	"r.544_588del"	"p.?"	"7i"	""	""
"0000477949"	"00005455"	"70"	"588"	"5"	"588"	"5"	"c.588+5G>A"	"r.588_589ins[gugaa;588+6_589-1]"	"p.?"	"7i"	""	""
"0000477950"	"00005455"	"90"	"589"	"-1"	"589"	"-1"	"c.589-1G>A"	"r.spl"	"p.?"	"7i"	""	""
"0000477951"	"00005455"	"90"	"643"	"-2"	"643"	"-2"	"c.643-2A>G"	"r.spl"	"p.?"	"8i"	""	""
"0000477952"	"00005455"	"90"	"696"	"1"	"696"	"1"	"c.696+1G>A"	"r.spl"	"p.?"	"9i"	""	""
"0000477953"	"00005455"	"90"	"697"	"-2"	"697"	"-2"	"c.697-2A>G"	"r.697_750del"	"p.?"	"9i"	""	""
"0000477954"	"00005455"	"90"	"697"	"-1"	"697"	"-1"	"c.697-1G>A"	"r.spl"	"p.?"	"9i"	""	""
"0000477955"	"00005455"	"90"	"697"	"-1"	"697"	"-1"	"c.697-1G>C"	"r.spl"	"p.?"	"9i"	""	""
"0000477956"	"00005455"	"90"	"751"	"-2"	"751"	"-2"	"c.751-2A>G"	"r.spl"	"p.?"	"10i"	""	""
"0000477957"	"00005455"	"90"	"858"	"1"	"858"	"1"	"c.858+1G>T"	"r.spl"	"p.?"	"12i"	""	""
"0000477958"	"00005455"	"90"	"859"	"-1"	"859"	"-1"	"c.859-1G>A"	"r.spl"	"p.?"	"12i"	""	""
"0000477959"	"00005455"	"90"	"859"	"-1"	"859"	"-1"	"c.859-1G>A"	"r.spl"	"p.?"	"12i"	""	""
"0000477960"	"00005455"	"90"	"903"	"1"	"903"	"1"	"c.903+1G>A"	"r.spl"	"p.?"	"13i"	""	""
"0000477961"	"00005455"	"70"	"957"	"2"	"957"	"2"	"c.957+2dup"	"r.spl"	"p.?"	"14i"	""	""
"0000477962"	"00005455"	"90"	"958"	"-1"	"958"	"-1"	"c.958-1G>A"	"r.spl"	"p.?"	"14i"	"splicing affected?"	""
"0000477963"	"00005455"	"90"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl"	"p.?"	"16i"	""	""
"0000477964"	"00005455"	"90"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl"	"p.?"	"16i"	""	""
"0000477965"	"00005455"	"90"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>T"	"r.spl"	"p.?"	"16i"	""	""
"0000477966"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl"	"p.?"	"17i"	""	""
"0000477967"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl"	"p.?"	"17i"	""	""
"0000477968"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl"	"p.?"	"17i"	""	""
"0000477969"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl"	"p.?"	"17i"	""	""
"0000477970"	"00005455"	"70"	"1155"	"4"	"1155"	"7"	"c.1155+4_1155+7del"	"r.spl"	"p.?"	"17i"	""	""
"0000477971"	"00005455"	"70"	"1155"	"5"	"1155"	"5"	"c.1155+5G>C"	"r.spl"	"p.?"	"17i"	""	""
"0000477972"	"00005455"	"90"	"1156"	"-1"	"1156"	"-1"	"c.1156-1G>A"	"r.1157del"	"p.?"	"17i"	""	""
"0000477973"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>A"	"r.spl"	"p.?"	"18i"	""	""
"0000477974"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>A"	"r.spl"	"p.?"	"18i"	""	""
"0000477975"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>A"	"r.spl"	"p.?"	"18i"	""	""
"0000477976"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>T"	"r.spl"	"p.?"	"18i"	""	""
"0000477977"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>T"	"r.spl"	"p.?"	"18i"	""	""
"0000477978"	"00005455"	"99"	"1200"	"1"	"1200"	"2"	"c.1200+1_1200+2del"	"r.spl?"	"p.?"	"18i"	""	""
"0000477979"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477980"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477981"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477982"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477983"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477984"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477985"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477986"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477987"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477988"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477989"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477990"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477991"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477992"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477993"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477994"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.[1292_1299del,1201_1299del]"	"p.?"	"19i"	""	""
"0000477995"	"00005455"	"70"	"1299"	"5"	"1299"	"5"	"c.1299+5G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477996"	"00005455"	"70"	"1299"	"5"	"1299"	"5"	"c.1299+5G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477997"	"00005455"	"90"	"1300"	"-1"	"1300"	"-1"	"c.1300-1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000477998"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000477999"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478000"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478001"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478002"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478003"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478004"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478005"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478006"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478007"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478008"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478009"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478010"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478011"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478012"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478013"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000478014"	"00005455"	"90"	"1354"	"-2"	"1354"	"-2"	"c.1354-2A>G"	"r.spl"	"p.?"	"20i"	""	""
"0000478015"	"00005455"	"90"	"1354"	"-1"	"1354"	"-1"	"c.1354-1G>A"	"r.spl"	"p.?"	"20i"	""	""
"0000478016"	"00005455"	"90"	"1354"	"-1"	"1354"	"-1"	"c.1354-1G>T"	"r.spl"	"p.?"	"20i"	""	""
"0000478017"	"00005455"	"70"	"1515"	"3"	"1515"	"3"	"c.1515+3A>G"	"r.spl"	"p.?"	"22i"	""	""
"0000478018"	"00005455"	"90"	"1516"	"-2"	"1516"	"-2"	"c.1516-2A>G"	"r.spl"	"p.?"	"22i"	""	""
"0000478019"	"00005455"	"90"	"1516"	"-2"	"1516"	"-2"	"c.1516-2A>G"	"r.spl"	"p.?"	"22i"	""	""
"0000478020"	"00005455"	"90"	"1516"	"-1"	"1516"	"-1"	"c.1516-1G>C"	"r.spl"	"p.?"	"22i"	""	""
"0000478021"	"00005455"	"90"	"1516"	"-1"	"1516"	"-1"	"c.1516-1G>T"	"r.spl"	"p.?"	"22i"	""	""
"0000478022"	"00005455"	"90"	"1614"	"1"	"1614"	"1"	"c.1614+1G>C"	"r.spl"	"p.?"	"23i"	""	""
"0000478023"	"00005455"	"90"	"1615"	"-1"	"1615"	"-1"	"c.1615-1G>C"	"r.spl"	"p.?"	"23i"	""	""
"0000478024"	"00005455"	"90"	"1615"	"-1"	"1615"	"-1"	"c.1615-1G>T"	"r.spl"	"p.?"	"23i"	""	""
"0000478025"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478026"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478027"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478028"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478029"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478030"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478031"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478032"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478033"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478034"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478035"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478036"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478037"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478038"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478039"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000478040"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>C"	"r.spl"	"p.?"	"26i"	""	""
"0000478041"	"00005455"	"90"	"1876"	"-1"	"1876"	"-1"	"c.1876-1G>A"	"r.1877del"	"p.?"	"27i"	""	""
"0000478042"	"00005455"	"90"	"1929"	"1"	"1929"	"1"	"c.1929+1G>A"	"r.1895_1929del"	"p.?"	"28i"	""	""
"0000478043"	"00005455"	"90"	"1929"	"1"	"1929"	"1"	"c.1929+1G>C"	"r.spl"	"p.?"	"28i"	""	""
"0000478044"	"00005455"	"90"	"1930"	"-2"	"1930"	"-2"	"c.1930-2A>G"	"r.spl"	"p.?"	"28i"	""	""
"0000478045"	"00005455"	"90"	"1930"	"-1"	"1930"	"-1"	"c.1930-1G>A"	"r.spl"	"p.?"	"28i"	""	""
"0000478046"	"00005455"	"90"	"1930"	"-1"	"1930"	"-1"	"c.1930-1G>C"	"r.spl"	"p.?"	"28i"	""	""
"0000478047"	"00005455"	"90"	"1983"	"1"	"1983"	"1"	"c.1983+1G>A"	"r.spl"	"p.?"	"29i"	""	""
"0000478048"	"00005455"	"70"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl"	"p.?"	"29i"	""	""
"0000478049"	"00005455"	"90"	"1984"	"-1"	"1984"	"-1"	"c.1984-1G>A"	"r.spl"	"p.?"	"29i"	""	""
"0000478050"	"00005455"	"90"	"2029"	"-1"	"2029"	"-1"	"c.2029-1G>A"	"r.spl"	"p.?"	"30i"	""	""
"0000478051"	"00005455"	"90"	"2127"	"1"	"2127"	"1"	"c.2127+1G>A"	"r.spl"	"p.?"	"31i"	""	""
"0000478052"	"00005455"	"90"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>A"	"r.spl"	"p.?"	"31i"	""	""
"0000478053"	"00005455"	"90"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>A"	"r.spl"	"p.?"	"31i"	""	""
"0000478054"	"00005455"	"90"	"2236"	"-2"	"2236"	"-2"	"c.2236-2A>G"	"r.spl"	"p.?"	"32i"	""	""
"0000478055"	"00005455"	"90"	"2343"	"1"	"2343"	"1"	"c.2343+1G>A"	"r.spl"	"p.?"	"33/34i"	""	""
"0000478056"	"00005455"	"70"	"2344"	"-31"	"2344"	"-31"	"c.2344-31T>A"	"r.spl"	"p.(=)"	"33/34i"	""	""
"0000478057"	"00005455"	"90"	"2344"	"-1"	"2344"	"-1"	"c.2344-1G>A"	"r.spl"	"p.?"	"33/34i"	""	""
"0000478058"	"00005455"	"90"	"2344"	"-1"	"2344"	"-1"	"c.2344-1G>A"	"r.spl"	"p.?"	"33/34i"	""	""
"0000478059"	"00005455"	"90"	"2398"	"-1"	"2398"	"-1"	"c.2398-1G>A"	"r.spl"	"p.?"	"35i"	""	""
"0000478060"	"00005455"	"90"	"2451"	"1"	"2451"	"1"	"c.2451+1G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000478061"	"00005455"	"90"	"2451"	"1"	"2451"	"1"	"c.2451+1G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000478062"	"00005455"	"90"	"2451"	"1"	"2451"	"1"	"c.2451+1G>T"	"r.spl"	"p.?"	"36i"	""	""
"0000478063"	"00005455"	"90"	"2451"	"1"	"2451"	"1"	"c.2451+1G>T"	"r.spl"	"p.?"	"36i"	""	""
"0000478064"	"00005455"	"70"	"2451"	"5"	"2451"	"5"	"c.2451+5G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000478065"	"00005455"	"70"	"2451"	"5"	"2451"	"5"	"c.2451+5G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000478066"	"00005455"	"70"	"2451"	"5"	"2451"	"5"	"c.2451+5G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000478067"	"00005455"	"70"	"2451"	"5"	"2451"	"5"	"c.2451+5G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000478068"	"00005455"	"90"	"2451"	"0"	"2451"	"18"	"c.2451_2451+18del"	"r.spl"	"p.?"	"36i"	""	""
"0000478069"	"00005455"	"90"	"2452"	"-2"	"2452"	"-2"	"c.2452-2A>T"	"r.[2452_2479del,?]"	"p.?"	"36i"	""	""
"0000478070"	"00005455"	"90"	"2452"	"-1"	"2452"	"-1"	"c.2452-1G>A"	"r.2453del"	"p.?"	"36i"	""	""
"0000478071"	"00005455"	"90"	"2559"	"2"	"2559"	"2"	"c.2559+2T>A"	"r.spl"	"p.?"	"37i"	""	""
"0000478072"	"00005455"	"90"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.spl"	"p.?"	"37i"	""	""
"0000478073"	"00005455"	"90"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.spl"	"p.?"	"37i"	""	""
"0000478074"	"00005455"	"90"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.spl"	"p.?"	"37i"	""	""
"0000478075"	"00005455"	"90"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.spl"	"p.?"	"37i"	""	""
"0000478076"	"00005455"	"90"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.2561del"	"p.?"	"37i"	""	""
"0000478077"	"00005455"	"70"	"2667"	"3"	"2667"	"6"	"c.2667+3_2667+6del"	"r.spl"	"p.?"	"39i"	""	""
"0000478078"	"00005455"	"90"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>A"	"r.spl"	"p.?"	"39i"	""	""
"0000478079"	"00005455"	"90"	"2829"	"1"	"2829"	"1"	"c.2829+1G>A"	"r.spl"	"p.?"	"40i"	""	""
"0000478080"	"00005455"	"90"	"2829"	"1"	"2829"	"1"	"c.2829+1G>A"	"r.spl"	"p.?"	"40i"	""	""
"0000478081"	"00005455"	"70"	"2830"	"-3"	"2830"	"-3"	"c.2830-3A>G"	"r.spl"	"p.?"	"40i"	""	""
"0000478082"	"00005455"	"90"	"2830"	"-3"	"2830"	"-3"	"c.2830-3A>G"	"r.2829_2830insag"	"p.?"	"40i"	""	""
"0000478083"	"00005455"	"90"	"2938"	"-2"	"2938"	"-2"	"c.2938-2A>G"	"r.spl"	"p.?"	"41i"	""	""
"0000478084"	"00005455"	"90"	"2938"	"-1"	"2938"	"-1"	"c.2938-1G>A"	"r.spl"	"p.?"	"41i"	""	""
"0000478085"	"00005455"	"90"	"3045"	"1"	"3045"	"1"	"c.3045+1G>A"	"r.spl"	"p.?"	"42i"	""	""
"0000478086"	"00005455"	"90"	"3045"	"1"	"3045"	"1"	"c.3045+1G>A"	"r.spl"	"p.?"	"42i"	""	""
"0000478087"	"00005455"	"90"	"3045"	"1"	"3045"	"1"	"c.3045+1G>T"	"r.spl"	"p.?"	"42i"	""	""
"0000478088"	"00005455"	"90"	"3099"	"1"	"3099"	"1"	"c.3099+1G>A"	"r.spl"	"p.?"	"43i"	""	""
"0000478089"	"00005455"	"90"	"3100"	"-1"	"3100"	"-1"	"c.3100-1G>A"	"r.spl"	"p.?"	"43i"	""	""
"0000478090"	"00005455"	"90"	"3100"	"-1"	"3100"	"-1"	"c.3100-1G>A"	"r.spl"	"p.?"	"43i"	""	""
"0000478091"	"00005455"	"90"	"3100"	"-1"	"3100"	"-1"	"c.3100-1G>A"	"r.spl"	"p.?"	"43i"	""	""
"0000478092"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000478093"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000478094"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000478095"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000478096"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>C"	"r.spl"	"p.?"	"44i"	""	""
"0000478097"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>C"	"r.spl"	"p.?"	"44i"	""	""
"0000478098"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>C"	"r.spl"	"p.?"	"44i"	""	""
"0000478099"	"00005455"	"90"	"3207"	"2"	"3207"	"2"	"c.3207+2T>C"	"r.spl"	"p.?"	"44i"	""	""
"0000478100"	"00005455"	"90"	"3207"	"2"	"3207"	"2"	"c.3207+2T>C"	"r.3200_3207del"	"p.?"	"44i"	""	""
"0000478101"	"00005455"	"90"	"3207"	"2"	"3207"	"8"	"c.3207+2_3207+8del"	"r.spl"	"p.?"	"44i"	""	""
"0000478102"	"00005455"	"70"	"3207"	"2"	"3207"	"2"	"c.3207+2dup"	"r.spl"	"p.?"	"44i"	""	""
"0000478103"	"00005455"	"70"	"3207"	"5"	"3207"	"5"	"c.3207+5G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000478104"	"00005455"	"70"	"3207"	"5"	"3207"	"5"	"c.3207+5G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000478105"	"00005455"	"90"	"3262"	"-1"	"3262"	"-1"	"c.3262-1G>A"	"r.spl"	"p.?"	"45i"	""	""
"0000478106"	"00005455"	"90"	"3369"	"1"	"3369"	"1"	"c.3369+1G>A"	"r.spl"	"p.?"	"46i"	""	""
"0000478107"	"00005455"	"90"	"3369"	"1"	"3369"	"1"	"c.3369+1G>A"	"r.spl"	"p.?"	"46i"	""	""
"0000478108"	"00005455"	"90"	"3369"	"1"	"3369"	"1"	"c.3369+1G>A"	"r.spl"	"p.?"	"46i"	""	""
"0000478109"	"00005455"	"90"	"3369"	"1"	"3369"	"1"	"c.3369+1G>T"	"r.[3369_3370insauaa,3290_3369del]"	"p.?"	"46i"	""	""
"0000478110"	"00005455"	"70"	"3424"	"-6"	"3424"	"-6"	"c.3424-6C>G"	"r.spl"	"p.(=)"	"47i"	""	""
"0000478111"	"00005455"	"90"	"3531"	"1"	"3531"	"1"	"c.3531+1G>A"	"r.spl"	"p.?"	"48i"	""	""
"0000478112"	"00005455"	"90"	"3531"	"2"	"3531"	"2"	"c.3531+2T>C"	"r.spl"	"p.?"	"48i"	""	""
"0000478113"	"00005455"	"90"	"3532"	"-1"	"3532"	"-1"	"c.3532-1G>A"	"r.spl"	"p.?"	"48i"	""	""
"0000478114"	"00005455"	"90"	"3814"	"1"	"3814"	"1"	"c.3814+1G>C"	"r.spl"	"p.?"	"49i"	""	""
"0000478115"	"00005455"	"90"	"3814"	"2"	"3814"	"2"	"c.3814+2T>C"	"r.3814_3815ins[gc;3814+3_3815-1]"	"p.?"	"49i"	""	""
"0000478116"	"00005455"	"90"	"3814"	"2"	"3814"	"2"	"c.3814+2T>G"	"r.spl"	"p.?"	"49i"	""	""
"0000478117"	"00005455"	"70"	"3815"	"-3"	"3815"	"-3"	"c.3815-3C>G"	"r.spl"	"p.?"	"49i"	""	""
"0000478118"	"00005455"	"90"	"3815"	"-2"	"3815"	"-2"	"c.3815-2A>G"	"r.spl"	"p.?"	"49i"	""	""
"0000478119"	"00005455"	"90"	"4005"	"1"	"4005"	"1"	"c.4005+1G>C"	"r.spl"	"p.?"	"50i"	""	""
"0000478120"	"00005455"	"70"	"4005"	"5"	"4005"	"5"	"c.4005+5G>A"	"r.spl"	"p.?"	"50i"	""	""
"0000478121"	"00005455"	"70"	"4006"	"-33"	"4006"	"-33"	"c.4006-33G>A"	"r.spl"	"p.(=)"	"50i"	""	""
"0000478122"	"00005455"	"90"	"4249"	"-2"	"4249"	"-2"	"c.4249-2del"	"r.spl"	"p.?"	"51i"	""	""
"0000478123"	"00005455"	"90"	"957"	"1"	"957"	"1"	"c.957+1G>T"	"r.904_957del"	"p.?"	"14i"	""	""
"0000478124"	"00005455"	"90"	"957"	"2"	"957"	"2"	"c.957+2T>A"	"r.904_957del"	"p.?"	"14i"	"splicing affected?"	""
"0000478125"	"00005455"	"70"	"1353"	"5"	"1353"	"5"	"c.1353+5G>C"	"r.1300_1353del"	"p.?"	"20i"	""	""
"0000478126"	"00005455"	"90"	"1462"	"-3"	"1462"	"-3"	"c.1462-3C>G"	"r.1462_1515del"	"p.?"	"21i"	""	""
"0000478127"	"00005455"	"90"	"1668"	"1"	"1668"	"1"	"c.1668+1G>A"	"r.[1668_1669_ins[a;1668+2_1669-1],1615_1668del]"	"p.?"	"24i"	""	""
"0000478128"	"00005455"	"70"	"1668"	"4"	"1668"	"7"	"c.1668+4_1668+7del"	"r.1615_1668del"	"p.?"	"24i"	""	""
"0000478129"	"00005455"	"90"	"1767"	"2"	"1767"	"2"	"c.1767+2T>C"	"r.[1760_1767del,1767_1768insgugaguauuaa,1669_1767del]"	"p.?"	"25i"	""	""
"0000478130"	"00005455"	"90"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>C"	"r.1822_1875del"	"p.?"	"26i"	"splicing affected, exon skipped"	""
"0000478131"	"00005455"	"90"	"1984"	"-2"	"1984"	"-2"	"c.1984-2A>G"	"r.1984_2028del"	"p.?"	"29i"	""	""
"0000478132"	"00005455"	"90"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.[2228_2235del,2128_2235del]"	"p.?"	"32i"	""	""
"0000478133"	"00005455"	"90"	"3100"	"-2"	"3100"	"-2"	"c.3100-2A>G"	"r.3100_3207del"	"p.?"	"43i"	"splicing affected, exon skipped"	""
"0000478134"	"00005455"	"90"	"3100"	"-2"	"3100"	"-2"	"c.3100-2A>C"	"r.spl"	"p.?"	"43i"	""	""
"0000478135"	"00005455"	"90"	"3261"	"2"	"3261"	"2"	"c.3261+2T>C"	"r.3208_3261del"	"p.?"	"45i"	""	""
"0000478136"	"00005455"	"90"	"3423"	"1"	"3423"	"1"	"c.3423+1G>A"	"r.3370_3423del"	"p.?"	"47i"	"splicing affected, exon skipped"	""
"0000478137"	"00005455"	"90"	"642"	"1"	"642"	"1"	"c.642+1G>A"	"r.[588_642del,588_642delins588+1_589-63]"	"p.?"	"8i"	"splicing affected"	""
"0000478138"	"00005455"	"70"	"696"	"3"	"696"	"3"	"c.696+3A>C"	"r.[696_697ins[guc;696+4_696+111],643_696del]"	"p.?"	"9i"	""	""
"0000478139"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>C"	"r.697_750del"	"p.?"	"10i"	""	""
"0000478140"	"00005455"	"70"	"958"	"-18"	"958"	"-15"	"c.958-18_958-15del"	"r.[904_957del,=]"	"p.Gly302_Ala319del"	"14i"	""	""
"0000478141"	"00005455"	"90"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl"	"p.?"	"16i"	""	""
"0000478142"	"00005455"	"90"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl"	"p.?"	"16i"	""	""
"0000478143"	"00005455"	"90"	"1614"	"1"	"1614"	"1"	"c.1614+1G>A"	"r.[1614_1615ins[a;1614+2_1615-1],1571_1614del]"	"p.?"	"23i"	""	""
"0000478144"	"00005455"	"90"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.spl"	"p.?"	"32i"	""	""
"0000478145"	"00005455"	"90"	"3424"	"-3"	"3424"	"-3"	"c.3424-3C>G"	"r.[=,3424_3531del]"	"p.?"	"47i"	"splicing affected"	""
"0000478146"	"00005455"	"90"	"4005"	"1"	"4005"	"1"	"c.4005+1G>A"	"r.spl"	"p.?"	"50i"	""	""
"0000478147"	"00005455"	"90"	"4248"	"1"	"4248"	"1"	"c.4248+1G>A"	"r.4248_4249ins[a;4248+2_4249-1]"	"p.?"	"51i"	""	""
"0000478148"	"00005455"	"90"	"642"	"1"	"642"	"1"	"c.642+1G>T"	"r.spl"	"p.?"	"8i"	""	""
"0000478149"	"00005455"	"90"	"697"	"-2"	"697"	"-1"	"c.697-2_697-1del"	"r.spl"	"p.?"	"9i"	""	""
"0000478150"	"00005455"	"90"	"697"	"-2"	"697"	"-1"	"c.697-2_697-1del"	"r.spl"	"p.?"	"9i"	""	""
"0000478151"	"00005455"	"90"	"697"	"-1"	"697"	"-1"	"c.697-1G>T"	"r.spl"	"p.?"	"9i"	""	""
"0000478152"	"00005455"	"90"	"697"	"-1"	"697"	"-1"	"c.697-1G>T"	"r.[697_750del,=]"	"p.?"	"9i"	"splicing affected, exon skipped"	""
"0000478153"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.697_750del"	"p.?"	"10i"	""	""
"0000478154"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.697_750del"	"p.?"	"10i"	""	""
"0000478155"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>T"	"r.spl"	"p.?"	"10i"	""	""
"0000478156"	"00005455"	"70"	"904"	"-14"	"904"	"-14"	"c.904-14G>A"	"r.[903_904ins904-12_904-1,=]"	"p.(=)"	"13i"	""	""
"0000478157"	"00005455"	"90"	"1003"	"-2"	"1003"	"-2"	"c.1003-2A>G"	"r.spl"	"p.?"	"15i"	""	""
"0000478158"	"00005455"	"90"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>G"	"r.spl"	"p.?"	"16i"	""	""
"0000478159"	"00005455"	"90"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>G"	"r.spl"	"p.?"	"16i"	""	""
"0000478160"	"00005455"	"90"	"1057"	"-1"	"1057"	"-1"	"c.1057-1G>T"	"r.spl"	"p.?"	"16i"	""	""
"0000478161"	"00005455"	"90"	"1461"	"1"	"1461"	"1"	"c.1461+1G>A"	"r.spl"	"p.?"	"21i"	""	""
"0000478162"	"00005455"	"70"	"1461"	"5"	"1461"	"5"	"c.1461+5G>A"	"r.1354_1461del"	"p.?"	"21i"	""	""
"0000478163"	"00005455"	"90"	"1876"	"-1"	"1876"	"-1"	"c.1876-1G>C"	"r.spl"	"p.?"	"27i"	""	""
"0000478164"	"00005455"	"90"	"3208"	"-1"	"3208"	"-1"	"c.3208-1G>C"	"r.spl"	"p.?"	"44i"	""	""
"0000562138"	"00005455"	"50"	"4373"	"0"	"4373"	"0"	"c.4373T>C"	"r.(?)"	"p.(Val1458Ala)"	""	""	""
"0000562139"	"00005455"	"10"	"4281"	"0"	"4281"	"0"	"c.4281T>C"	"r.(?)"	"p.(Ile1427=)"	""	""	""
"0000562140"	"00005455"	"50"	"4181"	"0"	"4181"	"0"	"c.4181A>G"	"r.(?)"	"p.(Asn1394Ser)"	""	""	""
"0000562141"	"00005455"	"30"	"4181"	"0"	"4181"	"0"	"c.4181A>G"	"r.(?)"	"p.(Asn1394Ser)"	""	""	""
"0000562142"	"00005455"	"30"	"4181"	"0"	"4181"	"0"	"c.4181A>G"	"r.(?)"	"p.(Asn1394Ser)"	""	""	""
"0000562143"	"00005455"	"90"	"4104"	"0"	"4104"	"0"	"c.4104C>A"	"r.(?)"	"p.(Tyr1368Ter)"	""	""	""
"0000562144"	"00005455"	"30"	"4018"	"0"	"4018"	"0"	"c.4018G>A"	"r.(?)"	"p.(Gly1340Ser)"	""	""	""
"0000562145"	"00005455"	"30"	"3993"	"0"	"3993"	"0"	"c.3993C>T"	"r.(?)"	"p.(Thr1331=)"	""	""	""
"0000562146"	"00005455"	"50"	"3979"	"0"	"3979"	"0"	"c.3979G>A"	"r.(?)"	"p.(Gly1327Ser)"	""	""	""
"0000562147"	"00005455"	"10"	"3897"	"0"	"3897"	"0"	"c.3897C>T"	"r.(?)"	"p.(Cys1299=)"	""	""	""
"0000562148"	"00005455"	"30"	"3815"	"-9"	"3815"	"-9"	"c.3815-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000562149"	"00005455"	"50"	"3755"	"0"	"3755"	"0"	"c.3755G>A"	"r.(?)"	"p.(Arg1252His)"	""	""	""
"0000562150"	"00005455"	"30"	"3699"	"0"	"3699"	"0"	"c.3699C>T"	"r.(?)"	"p.(Thr1233=)"	""	""	""
"0000562151"	"00005455"	"50"	"3535"	"0"	"3535"	"0"	"c.3535C>T"	"r.(?)"	"p.(Pro1179Ser)"	""	""	""
"0000562152"	"00005455"	"90"	"3540"	"0"	"3540"	"0"	"c.3540del"	"r.(?)"	"p.(Gly1181AlafsTer58)"	""	""	""
"0000562153"	"00005455"	"10"	"3531"	"10"	"3531"	"10"	"c.3531+10C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000562154"	"00005455"	"30"	"3504"	"0"	"3504"	"0"	"c.3504C>T"	"r.(?)"	"p.(Arg1168=)"	""	""	""
"0000562155"	"00005455"	"50"	"3278"	"0"	"3278"	"0"	"c.3278G>A"	"r.(?)"	"p.(Arg1093His)"	""	""	""
"0000562157"	"00005455"	"50"	"3169"	"0"	"3169"	"0"	"c.3169G>A"	"r.(?)"	"p.(Val1057Ile)"	""	""	""
"0000562158"	"00005455"	"90"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	""	""	""
"0000562159"	"00005455"	"30"	"3123"	"0"	"3123"	"0"	"c.3123C>T"	"r.(?)"	"p.(Pro1041=)"	""	""	""
"0000562160"	"00005455"	"30"	"3102"	"0"	"3102"	"0"	"c.3102T>C"	"r.(?)"	"p.(Gly1034=)"	""	""	""
"0000562161"	"00005455"	"30"	"3102"	"0"	"3102"	"0"	"c.3102T>C"	"r.(?)"	"p.(Gly1034=)"	""	""	""
"0000562163"	"00005455"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026Ter)"	""	""	""
"0000562164"	"00005455"	"30"	"3061"	"0"	"3061"	"0"	"c.3061G>C"	"r.(?)"	"p.(Glu1021Gln)"	""	""	""
"0000562165"	"00005455"	"10"	"3046"	"-8"	"3046"	"-5"	"c.3046-8_3046-5dup"	"r.spl?"	"p.?"	""	""	""
"0000562166"	"00005455"	"10"	"3046"	"-8"	"3046"	"-5"	"c.3046-8_3046-5dup"	"r.spl?"	"p.?"	""	""	""
"0000562167"	"00005455"	"10"	"3046"	"-6"	"3046"	"-5"	"c.3046-6_3046-5del"	"r.spl?"	"p.?"	""	""	""
"0000562168"	"00005455"	"50"	"3023"	"0"	"3023"	"0"	"c.3023C>G"	"r.(?)"	"p.(Pro1008Arg)"	""	""	""
"0000562169"	"00005455"	"30"	"2595"	"0"	"2595"	"0"	"c.2595C>T"	"r.(?)"	"p.(Arg865=)"	""	""	""
"0000562170"	"00005455"	"30"	"2452"	"-109"	"2452"	"-109"	"c.2452-109G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000562171"	"00005455"	"90"	"2451"	"58"	"2451"	"58"	"c.2451+58G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000562172"	"00005455"	"30"	"2198"	"0"	"2198"	"0"	"c.2198G>A"	"r.(?)"	"p.(Arg733His)"	""	""	""
"0000562173"	"00005455"	"50"	"2150"	"0"	"2150"	"0"	"c.2150C>T"	"r.(?)"	"p.(Ala717Val)"	""	""	""
"0000562174"	"00005455"	"50"	"2116"	"0"	"2116"	"0"	"c.2116G>A"	"r.(?)"	"p.(Asp706Asn)"	""	""	""
"0000562175"	"00005455"	"50"	"2116"	"0"	"2116"	"0"	"c.2116G>A"	"r.(?)"	"p.(Asp706Asn)"	""	""	""
"0000562176"	"00005455"	"50"	"2116"	"0"	"2116"	"0"	"c.2116G>A"	"r.(?)"	"p.(Asp706Asn)"	""	""	""
"0000562177"	"00005455"	"90"	"2102"	"0"	"2102"	"0"	"c.2102G>T"	"r.(?)"	"p.(Gly701Val)"	""	""	""
"0000562178"	"00005455"	"10"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	""	""	""
"0000562179"	"00005455"	"50"	"1984"	"-6"	"1984"	"-6"	"c.1984-6C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000562180"	"00005455"	"50"	"1882"	"0"	"1882"	"0"	"c.1882G>A"	"r.(?)"	"p.(Ala628Thr)"	""	""	""
"0000562181"	"00005455"	"50"	"1875"	"3"	"1875"	"3"	"c.1875+3G>T"	"r.spl?"	"p.?"	""	""	""
"0000562182"	"00005455"	"50"	"1873"	"0"	"1873"	"0"	"c.1873G>A"	"r.(?)"	"p.(Ala625Thr)"	""	""	""
"0000562183"	"00005455"	"90"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	""	""	""
"0000562184"	"00005455"	"90"	"1661"	"0"	"1661"	"0"	"c.1661G>T"	"r.(?)"	"p.(Gly554Val)"	""	""	""
"0000562185"	"00005455"	"10"	"1461"	"13"	"1461"	"13"	"c.1461+13G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000562186"	"00005455"	"50"	"1423"	"0"	"1423"	"0"	"c.1423C>A"	"r.(?)"	"p.(Pro475Thr)"	""	""	""
"0000562187"	"00005455"	"31"	"1300"	"-8"	"1300"	"-8"	"c.1300-8C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000562188"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	""	""	""
"0000562189"	"00005455"	"30"	"1249"	"0"	"1249"	"0"	"c.1249C>G"	"r.(?)"	"p.(Pro417Ala)"	""	""	""
"0000562190"	"00005455"	"30"	"1233"	"0"	"1233"	"0"	"c.1233C>T"	"r.(?)"	"p.(Phe411=)"	""	""	""
"0000562191"	"00005455"	"70"	"1211"	"0"	"1211"	"0"	"c.1211G>A"	"r.(?)"	"p.(Gly404Asp)"	""	""	""
"0000562192"	"00005455"	"50"	"1200"	"5"	"1200"	"5"	"c.1200+5G>A"	"r.spl?"	"p.?"	""	""	""
"0000562193"	"00005455"	"30"	"1156"	"-18"	"1156"	"-18"	"c.1156-18C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000562194"	"00005455"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361Ter)"	""	""	""
"0000562195"	"00005455"	"30"	"999"	"0"	"999"	"0"	"c.999C>T"	"r.(?)"	"p.(Pro333=)"	""	""	""
"0000562196"	"00005455"	"30"	"999"	"0"	"999"	"0"	"c.999C>A"	"r.(?)"	"p.(Pro333=)"	""	""	""
"0000562197"	"00005455"	"90"	"859"	"-1"	"859"	"-1"	"c.859-1G>A"	"r.spl?"	"p.?"	""	""	""
"0000562198"	"00005455"	"90"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253Ter)"	""	""	""
"0000562199"	"00005455"	"90"	"642"	"1"	"642"	"1"	"c.642+1G>A"	"r.spl?"	"p.?"	""	""	""
"0000562200"	"00005455"	"90"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Gly206Asp)"	""	""	""
"0000562201"	"00005455"	"30"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	""	""	""
"0000562202"	"00005455"	"30"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	""	""	""
"0000562203"	"00005455"	"10"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(Pro204=)"	""	""	""
"0000562204"	"00005455"	"30"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(Pro204=)"	""	""	""
"0000562205"	"00005455"	"90"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	""	""	""
"0000562206"	"00005455"	"90"	"512"	"0"	"512"	"0"	"c.512C>A"	"r.(?)"	"p.(Ser171Ter)"	""	""	""
"0000562207"	"00005455"	"50"	"497"	"0"	"497"	"0"	"c.497G>T"	"r.(?)"	"p.(Gly166Val)"	""	""	""
"0000562208"	"00005455"	"90"	"495"	"0"	"495"	"0"	"c.495T>A"	"r.(?)"	"p.(Tyr165Ter)"	""	""	""
"0000562209"	"00005455"	"79"	"472"	"-2"	"472"	"-2"	"c.472-2A>G"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000562210"	"00005455"	"90"	"370"	"-18"	"370"	"-18"	"c.370-18C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000562211"	"00005455"	"30"	"299"	"-15"	"299"	"-15"	"c.299-15C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000562212"	"00005455"	"90"	"104"	"-2"	"104"	"-2"	"c.104-2A>G"	"r.spl?"	"p.?"	""	""	""
"0000562213"	"00005455"	"90"	"103"	"5"	"103"	"5"	"c.103+5G>A"	"r.spl?"	"p.?"	""	""	""
"0000562214"	"00005455"	"50"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	""	""	""
"0000562215"	"00005455"	"30"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	""	""	""
"0000592080"	"00005455"	"90"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000592096"	"00005455"	"90"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000592584"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000592585"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000592586"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000592587"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000592588"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000592589"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.(=)"	"20i"	""	""
"0000597680"	"00005455"	"70"	"326"	"0"	"326"	"0"	"c.326G>A"	"r.(?)"	"p.(Gly109Asp)"	""	""	""
"0000597681"	"00005455"	"70"	"581"	"0"	"581"	"0"	"c.581G>C"	"r.(?)"	"p.(Gly194Ala)"	""	""	""
"0000597684"	"00005455"	"70"	"2073"	"0"	"2073"	"0"	"c.2073del"	"r.(?)"	"p.(Gly692Valfs*74)"	""	""	""
"0000597685"	"00005455"	"70"	"2073"	"0"	"2073"	"0"	"c.2073del"	"r.(?)"	"p.(Gly692Valfs*74)"	""	""	""
"0000597686"	"00005455"	"70"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	""	""	""
"0000597687"	"00005455"	"70"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Gly224Ser)"	""	""	""
"0000616667"	"00005455"	"10"	"4638"	"0"	"4639"	"0"	"c.*243_*244dup"	"r.(=)"	"p.(=)"	""	""	""
"0000616668"	"00005455"	"50"	"4004"	"0"	"4004"	"0"	"c.4004A>T"	"r.(?)"	"p.(Gln1335Leu)"	""	""	""
"0000616670"	"00005455"	"30"	"3099"	"7"	"3099"	"7"	"c.3099+7T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000616671"	"00005455"	"70"	"2479"	"0"	"2479"	"0"	"c.2479G>A"	"r.(?)"	"p.(Gly827Ser)"	""	""	""
"0000616672"	"00005455"	"70"	"2173"	"0"	"2173"	"0"	"c.2173G>A"	"r.(?)"	"p.(Gly725Ser)"	""	""	""
"0000616673"	"00005455"	"50"	"2005"	"0"	"2005"	"0"	"c.2005G>A"	"r.(?)"	"p.(Ala669Thr)"	""	""	""
"0000616674"	"00005455"	"10"	"1768"	"-439"	"1768"	"-438"	"c.1768-439_1768-438dup"	"r.(=)"	"p.(=)"	""	""	""
"0000616675"	"00005455"	"70"	"1751"	"0"	"1751"	"0"	"c.1751G>A"	"r.(?)"	"p.(Gly584Glu)"	""	""	""
"0000616676"	"00005455"	"70"	"1238"	"0"	"1238"	"0"	"c.1238G>A"	"r.(?)"	"p.(Gly413Asp)"	""	""	""
"0000616677"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>C"	"r.(?)"	"p.(Gly332Arg)"	""	""	""
"0000616678"	"00005455"	"70"	"272"	"0"	"272"	"0"	"c.272G>A"	"r.(?)"	"p.(Cys91Tyr)"	""	""	""
"0000616679"	"00005455"	"90"	"268"	"0"	"268"	"0"	"c.268G>T"	"r.(?)"	"p.(Glu90Ter)"	""	""	""
"0000623704"	"00005455"	"30"	"3766"	"0"	"3766"	"0"	"c.3766G>A"	"r.(?)"	"p.(Ala1256Thr)"	""	""	""
"0000623705"	"00005455"	"90"	"3241"	"0"	"3241"	"0"	"c.3241del"	"r.(?)"	"p.(Val1081LeufsTer27)"	""	""	""
"0000623706"	"00005455"	"90"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	""	""	""
"0000623707"	"00005455"	"30"	"2236"	"-17"	"2236"	"-17"	"c.2236-17C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000623708"	"00005455"	"90"	"614"	"0"	"614"	"0"	"c.614dup"	"r.(?)"	"p.(Gly206TrpfsTer2)"	""	""	""
"0000623709"	"00005455"	"50"	"401"	"0"	"401"	"0"	"c.401T>A"	"r.(?)"	"p.(Ile134Asn)"	""	""	""
"0000623710"	"00005455"	"50"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Pro129Ser)"	""	""	""
"0000624944"	"00005455"	"70"	"2685"	"0"	"2685"	"0"	"c.2685del"	"r.(?)"	"p.(Gly896Alafs*212)"	""	""	""
"0000649637"	"00005455"	"70"	"2418"	"0"	"2418"	"0"	"c.2418del"	"r.(?)"	"p.(Gly809Alafs*299)"	""	""	""
"0000649639"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	""	""	""
"0000649640"	"00005455"	"70"	"805"	"0"	"805"	"0"	"c.805G>A"	"r.(?)"	"p.(Gly269Ser)"	""	""	""
"0000649641"	"00005455"	"70"	"370"	"-2"	"370"	"-2"	"c.370-2A>G"	"r.spl?"	"p.?"	""	""	""
"0000658175"	"00005455"	"30"	"3100"	"-10"	"3100"	"-10"	"c.3100-10T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000658176"	"00005455"	"30"	"2613"	"13"	"2613"	"13"	"c.2613+13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000658177"	"00005455"	"30"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	""	""	""
"0000658178"	"00005455"	"30"	"1881"	"0"	"1881"	"0"	"c.1881C>T"	"r.(?)"	"p.(Pro627=)"	""	""	""
"0000658179"	"00005455"	"50"	"1082"	"0"	"1082"	"0"	"c.1082G>A"	"r.(?)"	"p.(Arg361Gln)"	""	""	""
"0000658180"	"00005455"	"90"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	""	""	""
"0000659560"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	""	"frameshift"	""
"0000660098"	"00005455"	"70"	"2533"	"0"	"2533"	"0"	"c.2533G>T"	"r.(?)"	"p.(Gly845*)"	""	""	""
"0000663763"	"00005455"	"99"	"700"	"0"	"700"	"0"	"c.700del"	"r.(?)"	"p.(Glu234Lysfs*31)"	"10"	"frameshift"	""
"0000663764"	"00005455"	"99"	"750"	"2"	"750"	"2"	"c.750+2T>A"	"r.spl?"	"p.?"	"10i"	"splicing affected"	""
"0000663765"	"00005455"	"99"	"898"	"0"	"898"	"0"	"c.898C>T"	"r.(?)"	"p.(Gln300*)"	"13"	"nonsense"	""
"0000663766"	"00005455"	"99"	"1017"	"0"	"1017"	"0"	"c.1017del"	"r.(?)"	"p.(Ala340Leufs*201)"	"16"	"frameshift"	""
"0000663767"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	""	""
"0000663768"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	""	""
"0000663769"	"00005455"	"99"	"1269"	"0"	"1269"	"0"	"c.1269del"	"r.(?)"	"p.(Gly424Alafs*117)"	"19"	""	""
"0000663770"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	""	""
"0000663771"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	""	""
"0000663772"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	""	""
"0000663773"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>T"	"r.spl?"	"p.?"	"19i"	""	""
"0000663774"	"00005455"	"99"	"1669"	"-1"	"1669"	"-1"	"c.1669-1G>A"	"r.spl?"	"p.?"	"24i"	""	""
"0000663775"	"00005455"	"99"	"1703"	"0"	"1703"	"0"	"c.1703del"	"r.(?)"	"p.(Pro568Glnfs*12)"	"25"	""	""
"0000663776"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	""	""
"0000663777"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	""	""
"0000663778"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	""	""
"0000663779"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	""	""
"0000663780"	"00005455"	"99"	"1822"	"-1"	"1822"	"-1"	"c.1822-1G>A"	"r.spl?"	"p.?"	"26i"	""	""
"0000663781"	"00005455"	"99"	"1876"	"-1"	"1876"	"-1"	"c.1876-1G>A"	"r.spl?"	"p.?"	"27i"	""	""
"0000663782"	"00005455"	"99"	"1955"	"0"	"1955"	"0"	"c.1955del"	"r.(?)"	"p.(Pro652Glnfs*114)"	"29"	""	""
"0000663783"	"00005455"	"99"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.(?)"	"p.(Gly671Alafs*95)"	"30"	""	""
"0000663784"	"00005455"	"90"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	""	""
"0000663785"	"00005455"	"99"	"2172"	"0"	"2172"	"0"	"c.2172del"	"r.(?)"	"p.(Gly725Alafs*41)"	"32"	""	""
"0000663786"	"00005455"	"90"	"2464"	"0"	"2464"	"0"	"c.2464C>T"	"r.(?)"	"p.(Gln822*)"	"36"	""	""
"0000663788"	"00005455"	"90"	"2477"	"0"	"2478"	"0"	"c.2477_2478del"	"r.(?)"	"p.(Lys826Argfs*5)"	"36"	""	""
"0000663789"	"00005455"	"90"	"2614"	"-1"	"2614"	"-1"	"c.2614-1G>T"	"r.spl?"	"p.?"	"37i"	""	""
"0000663790"	"00005455"	"90"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"38"	""	""
"0000663791"	"00005455"	"90"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>C"	"r.spl?"	"p.?"	"38i"	""	""
"0000663792"	"00005455"	"90"	"2910"	"0"	"2911"	"0"	"c.2910_2911insAG"	"r.(?)"	"p.(Gly971Argfs*138)"	"40"	""	""
"0000663793"	"00005455"	"90"	"3045"	"2"	"3045"	"2"	"c.3045+2T>A"	"r.spl?"	"p.?"	"41i"	""	""
"0000663794"	"00005455"	"90"	"3045"	"2"	"3045"	"2"	"c.3045+2T>A"	"r.spl?"	"p.?"	"41i"	""	""
"0000663795"	"00005455"	"99"	"3045"	"2"	"3045"	"2"	"c.3045+2T>A"	"r.spl?"	"p.?"	"41i"	""	""
"0000663796"	"00005455"	"90"	"3065"	"0"	"3065"	"0"	"c.3065G>C"	"r.(?)"	"p.(Gly1022Ala)"	"42"	""	""
"0000663797"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.spl?"	"p.?"	"43i"	""	""
"0000663941"	"00005455"	"99"	"3207"	"1"	"3207"	"2"	"c.3207+1_3207+2del"	"r.spl"	"p.?"	"43i"	""	""
"0000663942"	"00005455"	"99"	"3262"	"-1"	"3262"	"-1"	"c.3262-1G>C"	"r.spl"	"p.?"	"44i"	""	""
"0000663943"	"00005455"	"99"	"3318"	"0"	"3325"	"0"	"c.3318_3325del"	"r.(?)"	"p.(Ile1107Serfs*19)"	"45"	""	""
"0000663944"	"00005455"	"99"	"3360"	"0"	"3360"	"0"	"c.3360del"	"r.(?)"	"p.(Gly1121Alafs*118)"	"45"	""	""
"0000663945"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"46"	""	""
"0000663946"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"46"	""	""
"0000663947"	"00005455"	"99"	"3718"	"0"	"3718"	"0"	"c.3718C>T"	"r.(?)"	"p.(Gln1240*)"	"48"	""	""
"0000663948"	"00005455"	"99"	"3900"	"0"	"3900"	"0"	"c.3900del"	"r.(?)"	"p.(Tyr1301Thrfs*30)"	"49"	""	""
"0000663951"	"00005455"	"99"	"697"	"-1"	"697"	"-1"	"c.697-1G>A"	"r.spl"	"p.?"	"9i"	"splicing affected"	""
"0000663952"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000663953"	"00005455"	"99"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Asp)"	"13"	"missense"	""
"0000663954"	"00005455"	"99"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Gly365Ser)"	"17"	""	""
"0000663955"	"00005455"	"79"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Ala408del)"	"19"	""	""
"0000663956"	"00005455"	"79"	"1354"	"0"	"1354"	"0"	"c.1354G>A"	"r.(?)"	"p.(Gly452Ser)"	"21"	""	""
"0000663957"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	""
"0000663958"	"00005455"	"99"	"1668"	"1"	"1668"	"1"	"c.1668+1G>A"	"r.spl"	"p.?"	"24i"	""	""
"0000663959"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	""	""
"0000663960"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	""	""	""
"0000663961"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"36"	""	""
"0000663962"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"36"	""	""
"0000663963"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"37"	"missense"	"Gly688Ser"
"0000663964"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"43"	""	""
"0000663965"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"43"	""	""
"0000663966"	"00005455"	"99"	"3154"	"0"	"3154"	"0"	"c.3154G>T"	"r.(?)"	"p.(Gly1052Cys)"	"43"	""	""
"0000663967"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"44"	""	""
"0000663968"	"00005455"	"77"	"4123"	"0"	"4123"	"0"	"c.4123G>A"	"r.(?)"	"p.(Ala1375Thr)"	"50"	""	""
"0000663969"	"00005455"	"99"	"4248"	"1"	"4248"	"1"	"c.4248+1G>A"	"r.spl"	"p.?"	"50i"	""	""
"0000663970"	"00005455"	"75"	"4328"	"0"	"4328"	"0"	"c.4328C>T"	"r.(?)"	"p.(Ala1443Val)"	"51"	"missense"	""
"0000663971"	"00005455"	"75"	"4328"	"0"	"4328"	"0"	"c.4328C>T"	"r.(?)"	"p.(Ala1443Val)"	"51"	"missense"	""
"0000664418"	"00005455"	"90"	"67"	"0"	"67"	"0"	"c.67C>T"	"r.(?)"	"p.(Gln23*)"	"1"	""	""
"0000664419"	"00005455"	"99"	"143"	"0"	"143"	"0"	"c.143dup"	"r.(?)"	"p.(His48Glnfs*2)"	"2"	"frameshift"	""
"0000664420"	"00005455"	"99"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Arg50*)"	"2"	"nonsense"	""
"0000664421"	"00005455"	"90"	"299"	"-2"	"299"	"-2"	"c.299-2A>G"	"r.spl"	"p.?"	"2i"	""	""
"0000664422"	"00005455"	"90"	"588"	"1"	"588"	"1"	"c.588+1G>T"	"r.spl"	"p.?"	"7i"	""	""
"0000664423"	"00005455"	"90"	"643"	"-13"	"662"	"0"	"c.643-13_662del"	"r.spl"	"p.?"	"9"	""	""
"0000664424"	"00005455"	"90"	"695"	"0"	"695"	"0"	"c.695del"	"r.(?)"	"p.(Asp232Valfs*33)"	"9"	""	""
"0000664425"	"00005455"	"99"	"1661"	"0"	"1661"	"0"	"c.1661del"	"r.(?)"	"p.(Gly554Alafs*26)"	"24"	"frameshift"	""
"0000664426"	"00005455"	"90"	"1667"	"0"	"1667"	"0"	"c.1667del"	"r.(?)"	"p.(Pro556Leufs*24)"	"24"	"frameshift"	"p.(Pro378Leufs*24)"
"0000664427"	"00005455"	"90"	"1822"	"-2"	"1822"	"-2"	"c.1822-2del"	"r.spl"	"p.?"	"26i"	""	""
"0000664428"	"00005455"	"90"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>T"	"r.spl"	"p.?"	"26i"	""	""
"0000664429"	"00005455"	"90"	"1922"	"0"	"1922"	"0"	"c.1922G>C"	"r.(?)"	"p.(Gly641Ala)"	"28"	""	""
"0000664430"	"00005455"	"10"	"2250"	"0"	"2250"	"0"	"c.2250del"	"r.(?)"	"p.(Gly752Valfs*14)"	"33"	""	""
"0000664431"	"00005455"	"10"	"2280"	"0"	"2280"	"0"	"c.2280T>A"	"r.(?)"	"p.(Asp760Glu)"	"33"	""	""
"0000664432"	"00005455"	"90"	"2450"	"0"	"2450"	"0"	"c.2450del"	"r.(?)"	"p.(Pro817Leufs*291)"	"36"	""	""
"0000664433"	"00005455"	"90"	"3262"	"-1"	"3262"	"-1"	"c.3262-1G>A"	"r.spl"	"p.?"	"45i"	""	""
"0000664434"	"00005455"	"90"	"3540"	"0"	"3540"	"0"	"c.3540dup"	"r.(?)"	"p.(Gly1181Argfs*39)"	"49"	""	""
"0000664464"	"00005455"	"99"	"-121"	"0"	"5801"	"0"	"c.-126_*1406{0}"	"r.0"	"p.0"	"_1_51_"	""	""
"0000664465"	"00005455"	"90"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.(?)"	"p.(Gly224Asp)"	"9"	""	""
"0000664466"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000664467"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000664468"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000664469"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000664470"	"00005455"	"90"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Gly275Ser)"	"12"	""	""
"0000664471"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	""	""
"0000664472"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl"	"p.?"	"17i"	""	""
"0000664473"	"00005455"	"90"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	""	""
"0000664474"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000664475"	"00005455"	"90"	"2037"	"0"	"2038"	"0"	"c.2037_2038del"	"r.(?)"	"p.(Gly680Phefs*29)"	"31"	""	""
"0000664476"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	""	""	""
"0000664477"	"00005455"	"90"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	""	""
"0000664478"	"00005455"	"90"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	""	""
"0000664479"	"00005455"	"90"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.(?)"	"p.(Gly854Ser)"	"38"	""	""
"0000664480"	"00005455"	"90"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	""	""
"0000664481"	"00005455"	"90"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	""	""
"0000664482"	"00005455"	"90"	"3531"	"1"	"3531"	"1"	"c.3531+1G>A"	"r.spl"	"p.?"	"48i"	""	""
"0000664483"	"00005455"	"90"	"3531"	"5"	"3531"	"5"	"c.3531+5G>A"	"r.spl"	"p.?"	"48i"	""	""
"0000680914"	"00005455"	"90"	"3497"	"0"	"3497"	"0"	"c.3497G>C"	"r.(?)"	"p.(Gly1166Ala)"	""	""	""
"0000680915"	"00005455"	"70"	"2559"	"5"	"2559"	"5"	"c.2559+5G>A"	"r.spl?"	"p.?"	""	""	""
"0000680916"	"00005455"	"50"	"1887"	"0"	"1887"	"0"	"c.1887C>T"	"r.(?)"	"p.(Gly629=)"	""	""	""
"0000680917"	"00005455"	"90"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377TrpfsTer15)"	""	""	""
"0000680918"	"00005455"	"90"	"1003"	"-1"	"1003"	"-1"	"c.1003-1G>A"	"r.spl?"	"p.?"	""	""	""
"0000692392"	"00005455"	"30"	"4387"	"0"	"4387"	"0"	"c.4387T>C"	"r.(?)"	"p.(Phe1463Leu)"	""	""	""
"0000692393"	"00005455"	"30"	"2451"	"44"	"2451"	"44"	"c.2451+44C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000692394"	"00005455"	"30"	"2398"	"-14"	"2398"	"-14"	"c.2398-14T>A"	"r.(=)"	"p.(=)"	""	""	""
"0000704576"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704577"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_(543+33_544-42){0}"	"r.?"	"p.(?)"	"_1_6i"	"deletion, multi exon"	""
"0000704578"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704579"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704580"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704581"	"00005455"	"95"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704582"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704583"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704584"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704585"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704586"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0?"	"_1_51_"	"deletion, large"	""
"0000704587"	"00005455"	"95"	"0"	"0"	"0"	"0"	"c.-126_(3207+1_3208-1){2}"	"r.0?"	"p.0?"	"_1_43i"	"other/complex"	""
"0000704588"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704589"	"00005455"	"99"	"-1052769"	"0"	"567875"	"0"	"c.-1052769_*563480del"	"r.0?"	"p.0?"	"_1_51_"	"deletion, large"	""
"0000704590"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704591"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704592"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0?"	"_1_51_"	"deletion, large"	""
"0000704593"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704594"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0"	"_1_51_"	"deletion, large"	""
"0000704595"	"00005455"	"99"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0?"	"p.0?"	"_1_51_"	"deletion, large"	""
"0000704596"	"00005455"	"99"	"1"	"0"	"1"	"0"	"c.1A>C"	"r.?"	"p.?"	"1"	"initiating methionine"	""
"0000704597"	"00005455"	"99"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	"1"	"initiating methionine"	""
"0000704598"	"00005455"	"99"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	"1"	"initiating methionine"	""
"0000704599"	"00005455"	"99"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	"1"	"initiating methionine"	""
"0000704600"	"00005455"	"99"	"2"	"0"	"2"	"0"	"c.2T>C"	"r.(?)"	"p.(Met1?)"	"1"	"initiating methionine"	""
"0000704601"	"00005455"	"99"	"2"	"0"	"2"	"0"	"c.2T>G"	"r.(?)"	"p.(Met1?)"	"1"	"initiating methionine"	""
"0000704602"	"00005455"	"99"	"3"	"0"	"3"	"0"	"c.3G>T"	"r.(?)"	"p.(Met1?)"	"1"	"initiating methionine"	""
"0000704603"	"00005455"	"59"	"37"	"0"	"38"	"0"	"c.37_38insC"	"r.(?)"	"p.(Leu13Serfs*37)"	"1"	"frameshift"	""
"0000704604"	"00005455"	"99"	"38"	"0"	"38"	"0"	"c.38T>G"	"r.(?)"	"p.(Leu13*)"	"1"	"nonsense"	""
"0000704605"	"00005455"	"97"	"62"	"0"	"62"	"0"	"c.62A>C"	"r.(?)"	"p.(His21Pro)"	"1"	"missense"	""
"0000704606"	"00005455"	"99"	"64"	"0"	"64"	"0"	"c.64G>C"	"r.(?)"	"p.(Gly22Arg)"	"1"	"missense"	""
"0000704607"	"00005455"	"99"	"64"	"0"	"64"	"0"	"c.64G>C"	"r.(?)"	"p.(Gly22Arg)"	"1"	"missense"	""
"0000704608"	"00005455"	"99"	"65"	"0"	"70"	"0"	"c.65_70del"	"r.(?)"	"p.(Gly22_Gln23del)"	"1"	"deletion"	""
"0000704609"	"00005455"	"57"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	"1"	"missense"	""
"0000704610"	"00005455"	"99"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	"1"	"missense"	""
"0000704611"	"00005455"	"99"	"79"	"0"	"79"	"0"	"c.79C>T"	"r.(?)"	"p.(Gln27*)"	"1"	"nonsense"	""
"0000704612"	"00005455"	"99"	"81"	"0"	"81"	"0"	"c.81del"	"r.(?)"	"p.(Val28Serfs*46)"	"1"	"frameshift"	""
"0000704613"	"00005455"	"99"	"91"	"0"	"91"	"0"	"c.91C>T"	"r.(?)"	"p.(Gln31*)"	"1"	"nonsense"	""
"0000704614"	"00005455"	"99"	"103"	"1"	"103"	"1"	"c.103+1G>A"	"r.spl?"	"p.?"	"1i"	"splicing affected?"	""
"0000704615"	"00005455"	"99"	"103"	"1"	"103"	"1"	"c.103+1G>A"	"r.spl?"	"p.?"	"1i"	"splicing affected?"	""
"0000704616"	"00005455"	"99"	"103"	"2"	"103"	"2"	"c.103+2T>C"	"r.spl?"	"p.?"	"1i"	"splicing affected?"	""
"0000704617"	"00005455"	"99"	"103"	"2"	"103"	"2"	"c.103+2T>C"	"r.spl?"	"p.?"	"1i"	"splicing affected?"	""
"0000704618"	"00005455"	"99"	"103"	"2"	"103"	"2"	"c.103+2T>G"	"r.?"	"p.?"	"1i"	"splicing affected"	""
"0000704619"	"00005455"	"99"	"104"	"-441"	"104"	"-441"	"c.104-441G>T"	"r.(=)"	"p.(=)"	"1i"	"other/complex"	""
"0000704620"	"00005455"	"57"	"104"	"-13"	"104"	"-12"	"c.104-13_104-12delinsAA"	"r.(=)"	"p.(=)"	"1i"	"splicing affected?"	""
"0000704621"	"00005455"	"99"	"104"	"-3"	"104"	"-3"	"c.104-3C>G"	"r.spl?"	"p.?"	"1i"	"splicing affected?"	""
"0000704622"	"00005455"	"99"	"104"	"-1"	"104"	"-1"	"c.104-1G>A"	"r.spl?"	"p.?"	"1i"	"splicing affected?"	""
"0000704623"	"00005455"	"99"	"104"	"-1"	"104"	"-1"	"c.104-1G>A"	"r.?"	"-"	"1i"	"splicing affected?"	""
"0000704624"	"00005455"	"99"	"104"	"-1"	"104"	"-1"	"c.104-1G>C"	"r.spl?"	"p.?"	"1i"	"splicing affected?"	""
"0000704625"	"00005455"	"99"	"104"	"-1"	"2613"	"1"	"c.(103+1_104-1)_(2613+1_2614-1)del"	"r.104_2613del"	"p.0"	"1i_37i"	"deletion, multi exon"	""
"0000704626"	"00005455"	"99"	"111"	"0"	"117"	"0"	"c.111_117del"	"r.(?)"	"p.(Ile38Alafs*34)"	"2"	"frameshift"	""
"0000704627"	"00005455"	"99"	"120"	"0"	"120"	"0"	"c.120C>A"	"r.(?)"	"p.(Cys40*)"	"2"	"nonsense"	""
"0000704628"	"00005455"	"99"	"120"	"0"	"120"	"0"	"c.120C>A"	"r.(?)"	"p.(Cys40*)"	"2"	"nonsense"	""
"0000704629"	"00005455"	"99"	"141"	"0"	"141"	"0"	"c.141C>A"	"r.(?)"	"p.(Tyr47*)"	"2"	"nonsense"	""
"0000704630"	"00005455"	"99"	"144"	"0"	"144"	"0"	"c.144del"	"r.?"	"p.(His48Glnfs*26)"	"2"	"frameshift"	""
"0000704631"	"00005455"	"99"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.?"	"p.(Arg50*)"	"2"	"nonsense"	""
"0000704632"	"00005455"	"99"	"157"	"0"	"158"	"0"	"c.157_158del"	"r.?"	"p.(Trp53Glufs*19)"	"2"	"frameshift"	""
"0000704633"	"00005455"	"99"	"158"	"0"	"158"	"0"	"c.158G>A"	"r.(?)"	"p.(Trp53*)"	"2"	"nonsense"	""
"0000704634"	"00005455"	"99"	"158"	"0"	"158"	"0"	"c.158G>A"	"r.(?)"	"p.(Trp53*)"	"2"	"nonsense"	""
"0000704635"	"00005455"	"99"	"174"	"0"	"174"	"0"	"c.174C>A"	"p.(Cys58*)"	"p.(Cys58*)"	"2"	"nonsense"	""
"0000704636"	"00005455"	"99"	"174"	"0"	"174"	"0"	"c.174C>A"	"r.(?)"	"p.(Cys58*)"	"2"	"nonsense"	""
"0000704637"	"00005455"	"73"	"175"	"0"	"175"	"0"	"c.175C>T"	"r.?"	"p.(Arg59Trp)"	"2"	"missense"	""
"0000704638"	"00005455"	"11"	"177"	"0"	"177"	"0"	"c.177G>T"	"r.(?)"	"p.(=)"	"2"	"silent"	""
"0000704639"	"00005455"	"99"	"177"	"0"	"179"	"0"	"c.177_179delinsAG"	"r.?"	"p.(Ile60Alafs*14)"	"2"	"frameshift"	""
"0000704640"	"00005455"	"97"	"178"	"0"	"178"	"0"	"c.178A>T"	"r.?"	"p.(Ile60Phe)"	"2"	"missense"	""
"0000704641"	"00005455"	"99"	"182"	"0"	"182"	"0"	"c.182G>T"	"r.(?)"	"p.(Cys61Phe)"	"2"	"missense"	""
"0000704642"	"00005455"	"99"	"182"	"0"	"182"	"0"	"c.182G>T"	"r.(?)"	"p.(Cys61Phe)"	"2"	"missense"	""
"0000704643"	"00005455"	"77"	"187"	"0"	"187"	"0"	"c.187T>A"	"r.?"	"p.(Cys63Ser)"	"2"	"missense"	""
"0000704644"	"00005455"	"99"	"189"	"0"	"189"	"0"	"c.189C>A"	"r.(?)"	"p.(Cys63*)"	"2"	"nonsense"	""
"0000704645"	"00005455"	"99"	"189"	"0"	"189"	"0"	"c.189C>A"	"r.(?)"	"p.(Cys63*)"	"2"	"nonsense"	""
"0000704646"	"00005455"	"95"	"189"	"0"	"189"	"0"	"c.189C>A"	"r.(?)"	"p.(Cys63*)"	"2"	"nonsense"	""
"0000704647"	"00005455"	"99"	"189"	"0"	"189"	"0"	"c.189dup"	"r.?"	"p.(Asp64Argfs*9)"	"2"	"frameshift"	""
"0000704648"	"00005455"	"99"	"189"	"0"	"189"	"0"	"c.189dup"	"r.?"	"p.(Asp64Argfs*9)"	"2"	"frameshift"	""
"0000704649"	"00005455"	"99"	"189"	"0"	"189"	"0"	"c.189dup"	"r.?"	"p.(Asp64Argfs*9)"	"2"	"frameshift"	""
"0000704650"	"00005455"	"99"	"198"	"0"	"204"	"0"	"c.198_204dup"	"r.(?)"	"p.(Leu69Glnfs*6)"	"2"	"frameshift"	""
"0000704651"	"00005455"	"99"	"199"	"0"	"199"	"0"	"c.199A>T"	"r.(?)"	"p.(Lys67*)"	"2"	"nonsense"	""
"0000704652"	"00005455"	"99"	"212"	"0"	"212"	"0"	"c.212del"	"r.?"	"p.(Asp71Valfs*3)"	"2"	"frameshift"	""
"0000704653"	"00005455"	"99"	"231"	"0"	"231"	"0"	"c.231del"	"r.(?)"	"p.(Thr78Profs*76)"	"2"	"frameshift"	""
"0000704654"	"00005455"	"99"	"246"	"0"	"246"	"0"	"c.246del"	"r.(?)"	"p.(Gly83Alafs*182)"	"2"	"frameshift"	""
"0000704655"	"00005455"	"95"	"247"	"0"	"248"	"0"	"c.247_248insAAGGACT"	"r.?"	"p.(Gly83Glufs*88)"	"2"	"frameshift"	""
"0000704656"	"00005455"	"99"	"253"	"0"	"253"	"0"	"c.253G>T"	"r.(?)"	"p.(Glu85*)"	"2"	"nonsense"	""
"0000704657"	"00005455"	"95"	"262"	"0"	"262"	"0"	"c.262G>T"	"r.?"	"p.(Glu88*)"	"2"	"nonsense"	""
"0000704658"	"00005455"	"33"	"266"	"0"	"266"	"0"	"c.266G>T"	"r.(?)"	"p.(Gly89Val)"	"2"	"missense"	""
"0000704659"	"00005455"	"99"	"266"	"0"	"266"	"0"	"c.266delinsCGCCGTCCCGGGGA"	"r.(?)"	"p.(Gly89Alafs*84)"	"2"	"frameshift"	""
"0000704660"	"00005455"	"99"	"268"	"0"	"268"	"0"	"c.268G>T"	"r.?"	"p.(Glu90*)"	"2"	"nonsense"	""
"0000704661"	"00005455"	"99"	"268"	"0"	"299"	"-60"	"c.268_299-60del"	"r.spl?"	"p.?"	"2"	"other/complex"	""
"0000704662"	"00005455"	"95"	"276"	"0"	"276"	"0"	"c.276del"	"r.?"	"p.(Val94Serfs*171)"	"2"	"frameshift"	""
"0000704663"	"00005455"	"99"	"281"	"0"	"281"	"0"	"c.281T>A"	"r.(?)"	"p.(Val94Asp)"	"2"	"nonsense"	""
"0000704664"	"00005455"	"99"	"285"	"0"	"285"	"0"	"c.285C>A"	"r.(?)"	"p.(Cys95*)"	"2"	"nonsense"	""
"0000704665"	"00005455"	"99"	"299"	"-5"	"313"	"0"	"c.299-5_313del"	"r.spl?"	"p.?"	"2i"	"splicing affected?"	""
"0000704666"	"00005455"	"95"	"299"	"-1"	"299"	"-1"	"c.299-1G>A"	"r.?"	"-"	"2i"	"splicing affected?"	""
"0000704667"	"00005455"	"99"	"299"	"-1"	"299"	"-1"	"c.299-1G>C"	"r.spl?"	"p.?"	"2i"	"splicing affected?"	""
"0000704668"	"00005455"	"79"	"299"	"-1"	"299"	"-1"	"c.299-1G>C"	"r.spl?"	"p.?"	"2i"	"splicing affected?"	""
"0000704669"	"00005455"	"99"	"299"	"-1"	"299"	"-1"	"c.299-1G>C"	"r.spl?"	"p.?"	"2i"	"splicing affected?"	""
"0000704670"	"00005455"	"99"	"299"	"-1"	"299"	"-1"	"c.299-1G>C"	"r.spl?"	"p.?"	"2i"	"splicing affected?"	""
"0000704671"	"00005455"	"99"	"299"	"0"	"300"	"0"	"c.299_300del"	"r.(?)"	"p.(Glu100Valfs*68)"	"2"	"frameshift"	""
"0000704672"	"00005455"	"99"	"299"	"0"	"300"	"0"	"c.299_300insC"	"r.(?)"	"p.(Glu100Aspfs*69)"	"2"	"frameshift"	""
"0000704673"	"00005455"	"99"	"299"	"0"	"300"	"0"	"c.299_300insC"	"r.(?)"	"p.(Glu100Aspfs*69)"	"2"	"frameshift"	""
"0000704674"	"00005455"	"99"	"309"	"0"	"309"	"0"	"c.309del"	"r.(?)"	"p.(Asp104Thrfs*161)"	"3"	"frameshift"	""
"0000704675"	"00005455"	"99"	"314"	"0"	"324"	"0"	"c.314_324del"	"r.(?)"	"p.(Gln105Argfs*60)"	"3"	"frameshift"	""
"0000704676"	"00005455"	"99"	"333"	"0"	"333"	"1"	"c.333_333+1delinsTC"	"r.spl?"	"p.?"	"3"	"splicing affected?"	""
"0000704677"	"00005455"	"95"	"333"	"1"	"333"	"1"	"c.333+1G>A"	"r.?"	"-"	"3i"	"splicing affected?"	""
"0000704678"	"00005455"	"99"	"333"	"2"	"333"	"2"	"c.333+2T>C"	"r.spl?"	"p.?"	"3i"	"splicing affected?"	""
"0000704679"	"00005455"	"99"	"333"	"2"	"333"	"2"	"c.333+2T>C"	"r.spl?"	"p.?"	"3i"	"splicing affected?"	""
"0000704680"	"00005455"	"99"	"333"	"2"	"333"	"2"	"c.333+2T>C"	"r.spl?"	"p.?"	"3i"	"splicing affected?"	""
"0000704681"	"00005455"	"99"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.(=)"	"p.(=)"	"3i"	"splicing affected?"	""
"0000704682"	"00005455"	"99"	"334"	"-2"	"334"	"-2"	"c.334-2A>G"	"r.spl?"	"p.?"	"3i"	"splicing affected?"	""
"0000704683"	"00005455"	"95"	"334"	"-1"	"334"	"-1"	"c.334-1G>A"	"r.spl?"	"p.?"	"3i"	"splicing affected?"	""
"0000704684"	"00005455"	"99"	"358"	"0"	"358"	"0"	"c.358C>T"	"r.(?)"	"p.(Arg120*)"	"4"	"nonsense"	""
"0000704685"	"00005455"	"95"	"358"	"0"	"358"	"0"	"c.358C>T"	"r.?"	"p.(Arg120*)"	"4"	"nonsense"	""
"0000704686"	"00005455"	"99"	"370"	"-3"	"370"	"-1"	"c.370-3_370-1delinsTC"	"r.spl?"	"p.?"	"4i"	"splicing affected?"	""
"0000704687"	"00005455"	"99"	"370"	"-3"	"370"	"-1"	"c.370-3_370-1delinsTC"	"r.spl?"	"p.?"	"4i"	"splicing affected?"	""
"0000704688"	"00005455"	"99"	"370"	"-1"	"370"	"-1"	"c.370-1G>A"	"r.spl?"	"p.?"	"4i"	"splicing affected?"	""
"0000704689"	"00005455"	"95"	"370"	"-1"	"370"	"-1"	"c.370-1G>A"	"r.?"	"-"	"4i"	"splicing affected?"	""
"0000704690"	"00005455"	"95"	"370"	"-1"	"370"	"-1"	"c.370-1G>A"	"r.spl?"	"p.?"	"4i"	"splicing affected?"	""
"0000704691"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386del"	"r.(?)"	"p.(Pro129Leufs*136)"	"5"	"frameshift"	""
"0000704692"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386del"	"r.(?)"	"p.(Pro129Leufs*136)"	"5"	"frameshift"	""
"0000704693"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386del"	"r.(?)"	"p.(Pro129Leufs*136)"	"5"	"frameshift"	""
"0000704694"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386del"	"r.(?)"	"p.(Pro129Leufs*136)"	"5"	"frameshift"	""
"0000704695"	"00005455"	"95"	"386"	"0"	"386"	"0"	"c.386del"	"r.?"	"p.(Pro129Leufs*136)"	"5"	"frameshift"	""
"0000704696"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000704697"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000704698"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000704699"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000704700"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000704701"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000704702"	"00005455"	"99"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130Trpfs*39)"	"5"	"frameshift"	""
"0000704703"	"00005455"	"99"	"389"	"0"	"390"	"0"	"c.389_390insA"	"r.(?)"	"p.(Arg131Profs*38)"	"5"	"frameshift"	""
"0000704704"	"00005455"	"99"	"391"	"0"	"391"	"0"	"c.391C>T"	"r.(?)"	"p.(Arg131*)"	"5"	"nonsense"	""
"0000704705"	"00005455"	"99"	"391"	"0"	"391"	"0"	"c.391C>T"	"r.(?)"	"p.(Arg131*)"	"5"	"nonsense"	""
"0000704706"	"00005455"	"99"	"391"	"0"	"391"	"0"	"c.391C>T"	"r.(?)"	"p.(Arg131*)"	"5"	"nonsense"	""
"0000704707"	"00005455"	"99"	"391"	"0"	"391"	"0"	"c.391C>T"	"r.(?)"	"p.(Arg131*)"	"5"	"nonsense"	""
"0000704708"	"00005455"	"99"	"392"	"0"	"543"	"8"	"c.392_543+8delinsT"	"r.spl?"	"p.(Gly124_Met181del)"	"5"	"deletion"	""
"0000704709"	"00005455"	"99"	"410"	"0"	"413"	"0"	"c.410_413del"	"r.(?)"	"p.(Gln137Leufs*127)"	"5"	"frameshift"	""
"0000704710"	"00005455"	"95"	"416"	"0"	"419"	"0"	"c.416_419del"	"r.?"	"p.(Gly139Valfs*125)"	"5"	"frameshift"	""
"0000704711"	"00005455"	"99"	"423"	"0"	"423"	"0"	"c.423del"	"r.(?)"	"p.(Gly142Aspfs*123)"	"5"	"frameshift"	""
"0000704712"	"00005455"	"99"	"432"	"0"	"432"	"0"	"c.432del"	"r.(?)"	"p.(Gly145Aspfs*120)"	"5"	"frameshift"	""
"0000704713"	"00005455"	"99"	"432"	"0"	"432"	"0"	"c.432dup"	"r.(?)"	"p.(Gly145Argfs*24)"	"5"	"frameshift"	""
"0000704714"	"00005455"	"99"	"432"	"0"	"432"	"0"	"c.432dup"	"r.(?)"	"p.(Gly145Argfs*24)"	"5"	"frameshift"	""
"0000704715"	"00005455"	"99"	"432"	"0"	"432"	"0"	"c.432dup"	"r.(?)"	"p.(Gly145Argfs*24)"	"5"	"frameshift"	""
"0000704716"	"00005455"	"95"	"432"	"0"	"432"	"0"	"c.432dup"	"r.?"	"p.(Gly145Argfs*24)"	"5"	"frameshift"	""
"0000704717"	"00005455"	"99"	"433"	"0"	"434"	"0"	"c.433_434insC"	"r.?"	"p.(Gly145Alafs*24)"	"5"	"frameshift"	""
"0000704718"	"00005455"	"55"	"436"	"0"	"436"	"0"	"c.436C>A"	"r.(?)"	"p.(Pro146Thr)"	"5"	"missense"	""
"0000704719"	"00005455"	"99"	"441"	"0"	"441"	"0"	"c.441del"	"r.(?)"	"p.(Gly148Aspfs*117)"	"5"	"frameshift"	""
"0000704720"	"00005455"	"99"	"441"	"0"	"441"	"0"	"c.441del"	"r.(?)"	"p.(Gly148Aspfs*117)"	"5"	"frameshift"	""
"0000704721"	"00005455"	"99"	"441"	"0"	"441"	"0"	"c.441del"	"r.(?)"	"p.(Gly148Aspfs*117)"	"5"	"frameshift"	""
"0000704722"	"00005455"	"79"	"441"	"0"	"441"	"0"	"c.441dup"	"r.(?)"	"p.(Gly148Arg*21)"	"5"	"frameshift"	""
"0000704723"	"00005455"	"95"	"441"	"0"	"441"	"0"	"c.441dup"	"r.?"	"p.(Gly148Arg*21)"	"5"	"frameshift"	""
"0000704724"	"00005455"	"99"	"441"	"0"	"441"	"0"	"c.441dup"	"r.?"	"p.(Gly148Arg*21)"	"5"	"frameshift"	""
"0000704725"	"00005455"	"99"	"442"	"0"	"442"	"0"	"c.442G>T"	"r.(?)"	"p.(Gly148*)"	"5"	"nonsense"	""
"0000704726"	"00005455"	"99"	"458"	"0"	"458"	"0"	"c.458dup"	"r.(?)"	"p.(Gly154Trpfs*15)"	"5"	"nonsense"	""
"0000704727"	"00005455"	"99"	"458"	"0"	"458"	"0"	"c.458dup"	"r.(?)"	"p.(Gly154Trpfs*15)"	"5"	"nonsense"	""
"0000704728"	"00005455"	"99"	"458"	"0"	"458"	"0"	"c.458dup"	"r.(?)"	"p.(Gly154Trpfs*15)"	"5"	"nonsense"	""
"0000704729"	"00005455"	"99"	"458"	"0"	"458"	"0"	"c.458dup"	"r.(?)"	"p.(Gly154Trpfs*15)"	"5"	"nonsense"	""
"0000704730"	"00005455"	"99"	"459"	"0"	"459"	"0"	"c.459del"	"r.(?)"	"p.(Gly154Alafs*111)"	"5"	"frameshift"	""
"0000704731"	"00005455"	"99"	"459"	"0"	"459"	"0"	"c.459del"	"r.(?)"	"p.(Gly154Alafs*111)"	"5"	"frameshift"	""
"0000704732"	"00005455"	"99"	"461"	"0"	"461"	"0"	"c.461G>T"	"r.(?)"	"p.(Gly154Val)"	"5"	"missense"	""
"0000704733"	"00005455"	"11"	"462"	"0"	"462"	"0"	"c.462C>T"	"r.(?)"	"p.(=)"	"5"	"silent"	""
"0000704734"	"00005455"	"99"	"469"	"0"	"469"	"0"	"c.469G>T"	"r.(?)"	"p.(Gly157*)"	"5"	"nonsense"	""
"0000704735"	"00005455"	"99"	"469"	"0"	"469"	"0"	"c.469G>T"	"r.(?)"	"p.(Gly157*)"	"5"	"nonsense"	""
"0000704736"	"00005455"	"99"	"471"	"1"	"471"	"1"	"c.471+1G>A"	"r.spl?"	"p.?"	"5i"	"splicing affected?"	""
"0000704737"	"00005455"	"99"	"471"	"1"	"471"	"1"	"c.471+1G>A"	"r.spl?"	"p.?"	"5i"	"splicing affected?"	""
"0000704738"	"00005455"	"99"	"471"	"1"	"471"	"1"	"c.471+1G>C"	"r.spl?"	"p.?"	"5i"	"splicing affected?"	""
"0000704739"	"00005455"	"99"	"471"	"1"	"471"	"1"	"c.471+1G>C"	"r.spl?"	"p.?"	"5i"	"splicing affected?"	""
"0000704740"	"00005455"	"99"	"472"	"-2"	"472"	"-2"	"c.472-2A>G"	"r.spl?"	"p.?"	"5i"	"splicing affected?"	""
"0000704741"	"00005455"	"99"	"472"	"-2"	"472"	"-2"	"c.472-2A>T"	"r.spl?"	"p.(Asn158_Gln162del)"	"5i"	"deletion"	""
"0000704742"	"00005455"	"99"	"472"	"-1"	"472"	"-1"	"c.472-1G>A"	"r.spl?"	"p.?"	"5i"	"splicing affected?"	""
"0000704743"	"00005455"	"99"	"472"	"-1"	"472"	"-1"	"c.472-1G>A"	"r.spl?"	"p.?"	"5i"	"splicing affected?"	""
"0000704744"	"00005455"	"99"	"472"	"-1"	"3045"	"1"	"c.(471+1_472-1)_(3045+1_3046-1)del"	"r.(?)"	"p.(Asn158_Glu1015del)"	"5i_41i"	"deletion, multi exon"	""
"0000704745"	"00005455"	"99"	"477"	"0"	"477"	"0"	"c.477dup"	"r.(?)"	"p.(Ala160Cysfs*9)"	"6"	"frameshift"	""
"0000704746"	"00005455"	"99"	"484"	"0"	"484"	"0"	"c.484C>T"	"r.(?)"	"p.(Gln162*)"	"6"	"nonsense"	""
"0000704747"	"00005455"	"99"	"484"	"0"	"484"	"0"	"c.484C>T"	"r.?"	"p.(Gln162*)"	"6"	"nonsense"	""
"0000704748"	"00005455"	"95"	"495"	"0"	"495"	"0"	"c.495T>A"	"r.(?)"	"p.(Tyr165*)"	"6"	"nonsense"	""
"0000704749"	"00005455"	"99"	"505"	"0"	"505"	"0"	"c.505G>A"	"r.(?)"	"p.(Glu169Lys)"	"6"	"missense"	""
"0000704750"	"00005455"	"99"	"506"	"0"	"506"	"0"	"c.506del"	"r.(?)"	"p.(Glu169Glyfs*96)"	"6"	"frameshift"	""
"0000704751"	"00005455"	"99"	"506"	"0"	"506"	"0"	"c.506del"	"r.(?)"	"p.(Glu169Glyfs*96)"	"6"	"frameshift"	""
"0000704752"	"00005455"	"99"	"506"	"0"	"506"	"0"	"c.506del"	"r.(?)"	"p.(Glu169Glyfs*96)"	"6"	"frameshift"	""
"0000704753"	"00005455"	"97"	"517"	"0"	"517"	"0"	"c.517G>A"	"r.(?)"	"p.(Gly173Arg)"	"6"	"missense"	""
"0000704754"	"00005455"	"99"	"517"	"0"	"517"	"0"	"c.517G>T"	"r.(?)"	"p.(Gly173*)"	"6"	"nonsense"	""
"0000704755"	"00005455"	"99"	"517"	"0"	"517"	"0"	"c.517G>T"	"r.(?)"	"p.(Gly173*)"	"6"	"nonsense"	""
"0000704756"	"00005455"	"99"	"533"	"0"	"533"	"0"	"c.533del"	"r.(?)"	"p.(Pro178Leufs*87)"	"6"	"frameshift"	""
"0000704757"	"00005455"	"99"	"540"	"0"	"540"	"0"	"c.540dup"	"r.(?)"	"p.(Met181Hisfs*27)"	"6"	"frameshift"	""
"0000704758"	"00005455"	"99"	"543"	"0"	"543"	"0"	"c.543G>A"	"r.(?)"	"p.(Met181Ile)"	"6"	"splicing affected?"	"Met3Ile"
"0000704759"	"00005455"	"99"	"543"	"0"	"543"	"0"	"c.543G>A"	"r.(?)"	"p.(Met181Ile)"	"6"	"splicing affected?"	"Met3Ile"
"0000704760"	"00005455"	"99"	"543"	"1"	"543"	"1"	"c.543+1G>C"	"r.spl?"	"p.?"	"6i"	"splicing affected?"	""
"0000704761"	"00005455"	"99"	"543"	"2"	"543"	"2"	"c.543+2T>C"	"r.spl?"	"p.?"	"6i"	"splicing affected?"	""
"0000704762"	"00005455"	"59"	"543"	"4"	"543"	"4"	"c.543+4A>T"	"r.spl?"	"p.?"	"6i"	"splicing affected?"	""
"0000704763"	"00005455"	"99"	"543"	"5"	"543"	"5"	"c.543+5G>A"	"r.spl?"	"p.?"	"6i"	"splicing affected?"	""
"0000704764"	"00005455"	"59"	"544"	"-2"	"544"	"-2"	"c.544-2A>G"	"r.spl?"	"p.?"	"6i"	"splicing affected?"	""
"0000704765"	"00005455"	"99"	"544"	"-1"	"544"	"-1"	"c.544-1G>T"	"r.spl?"	"p.?"	"6i"	"splicing affected?"	""
"0000704766"	"00005455"	"99"	"563"	"0"	"563"	"0"	"c.563G>A"	"r.(?)"	"p.(Gly188Asp)"	"7"	"missense"	"Gly10Asp"
"0000704767"	"00005455"	"99"	"563"	"0"	"563"	"0"	"c.563G>A"	"r.(?)"	"p.(Gly188Asp)"	"7"	"missense"	"Gly10Asp"
"0000704768"	"00005455"	"99"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Gly191Asp)"	"7"	"missense"	"Gly13Asp"
"0000704769"	"00005455"	"99"	"572"	"0"	"572"	"0"	"c.572G>C"	"r.(?)"	"p.(Gly191Ala)"	"7"	"missense"	"Gly13Ala"
"0000704770"	"00005455"	"99"	"572"	"0"	"572"	"0"	"c.572G>C"	"r.(?)"	"p.(Gly191Ala)"	"7"	"missense"	"Gly13Ala"
"0000704771"	"00005455"	"99"	"573"	"0"	"574"	"0"	"c.573_574delinsG"	"r.?"	"p.(Pro193Leufs*72)"	"7"	"frameshift"	"Pro15Leufs*72"
"0000704772"	"00005455"	"99"	"578"	"0"	"578"	"0"	"c.578dup"	"r.(?)"	"p.(Gly194Trpfs*14)"	"7"	"frameshift"	""
"0000704773"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704774"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704775"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704776"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704777"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704778"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704779"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704780"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704781"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704782"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704783"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704784"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704785"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704786"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704787"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704788"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704789"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704790"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704791"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704792"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704793"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704794"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704795"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704796"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704797"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	"7"	"frameshift"	""
"0000704798"	"00005455"	"99"	"580"	"0"	"580"	"0"	"c.580G>A"	"r.(?)"	"p.(Gly194Ser)"	"7"	"missense"	"Gly16Ser"
"0000704799"	"00005455"	"99"	"580"	"0"	"580"	"0"	"c.580G>C"	"r.(?)"	"p.(Gly194Arg)"	"7"	"missense"	"Gly16Arg"
"0000704800"	"00005455"	"99"	"581"	"0"	"581"	"0"	"c.581G>A"	"r.(?)"	"p.(Gly194Asp)"	"7"	"missense"	"Gly16Asp"
"0000704801"	"00005455"	"99"	"581"	"0"	"581"	"0"	"c.581G>C"	"r.(?)"	"p.(Gly194Ala)"	"7"	"missense"	"Gly16Ala"
"0000704802"	"00005455"	"99"	"581"	"0"	"581"	"0"	"c.581G>C"	"r.(?)"	"p.(Gly194Ala)"	"7"	"missense"	"Gly16Ala"
"0000704803"	"00005455"	"99"	"588"	"2"	"588"	"3"	"c.588+2_588+3insTT"	"r.spl?"	"p.?"	"7i"	"splicing affected?"	""
"0000704804"	"00005455"	"99"	"588"	"4"	"588"	"4"	"c.588+4A>T"	"r.spl?"	"p.?"	"7i"	"splicing affected?"	""
"0000704805"	"00005455"	"99"	"588"	"4"	"588"	"4"	"c.588+4A>T"	"r.spl?"	"p.?"	"7i"	"splicing affected?"	""
"0000704806"	"00005455"	"95"	"588"	"5"	"588"	"5"	"c.588+5G>A"	"r.?"	"-"	"7i"	"splicing affected?"	""
"0000704807"	"00005455"	"99"	"589"	"-2"	"589"	"-2"	"c.589-2A>G"	"r.spl?"	"p.?"	"7i"	"splicing affected?"	""
"0000704808"	"00005455"	"99"	"569"	"0"	"569"	"0"	"c.569del"	"r.?"	"p.(Pro190Leufs*75)"	"8"	"frameshift"	"Pro12Leufs*75"
"0000704809"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>A"	"r.(?)"	"p.(Gly197Ser)"	"8"	"missense"	"Gly19Ser"
"0000704810"	"00005455"	"79"	"589"	"0"	"589"	"0"	"c.589G>C"	"r.(?)"	"p.(Gly197Arg)"	"8"	"missense"	""
"0000704811"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704812"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704813"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704814"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704815"	"00005455"	"79"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704816"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704817"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704818"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704819"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704820"	"00005455"	"99"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	"missense"	"Gly19Cys"
"0000704821"	"00005455"	"99"	"590"	"0"	"590"	"0"	"c.590G>A"	"r.(?)"	"p.(Gly197Asp)"	"8"	"missense"	"Gly19Asp"
"0000704822"	"00005455"	"99"	"590"	"0"	"590"	"0"	"c.590G>A"	"r.(?)"	"p.(Gly197Asp)"	"8"	"missense"	"Gly19Asp"
"0000704823"	"00005455"	"99"	"590"	"0"	"590"	"0"	"c.590G>A"	"r.(?)"	"p.(Gly197Asp)"	"8"	"missense"	"Gly19Asp"
"0000704824"	"00005455"	"99"	"590"	"0"	"590"	"0"	"c.590G>A"	"r.(?)"	"p.(Gly197Asp)"	"8"	"missense"	"Gly19Asp"
"0000704825"	"00005455"	"99"	"590"	"0"	"590"	"0"	"c.590G>C"	"r.(?)"	"p.(Gly197Ala)"	"8"	"missense"	"Gly19Ala"
"0000704826"	"00005455"	"95"	"590"	"0"	"590"	"0"	"c.590G>T"	"r.?"	"p.(Gly197Val)"	"8"	"missense"	"Gly19Val"
"0000704827"	"00005455"	"99"	"595"	"0"	"595"	"0"	"c.595del"	"r.(?)"	"p.(Gln199Lysfs*66)"	"8"	"frameshift"	""
"0000704828"	"00005455"	"99"	"599"	"0"	"599"	"0"	"c.599G>T"	"r.(?)"	"p.(Gly200Val)"	"8"	"missense"	"Gly22Val"
"0000704829"	"00005455"	"99"	"599"	"0"	"599"	"0"	"c.599G>T"	"r.(?)"	"p.(Gly200Val)"	"8"	"missense"	"Gly22Val"
"0000704830"	"00005455"	"95"	"599"	"0"	"599"	"0"	"c.599G>T"	"r.?"	"p.(Gly200Val)"	"8"	"missense"	"Gly22Val"
"0000704831"	"00005455"	"99"	"599"	"0"	"599"	"0"	"c.599G>T"	"r.(?)"	"p.(Gly200Val)"	"8"	"missense"	"Gly22Val"
"0000704832"	"00005455"	"99"	"607"	"0"	"607"	"0"	"c.607G>A"	"r.(?)"	"p.(Gly203Ser)"	"8"	"missense"	"Gly25Ser"
"0000704833"	"00005455"	"99"	"607"	"0"	"607"	"0"	"c.607G>C"	"r.(?)"	"p.(Gly203Arg)"	"8"	"missense"	"Gly25Arg"
"0000704834"	"00005455"	"99"	"607"	"0"	"607"	"0"	"c.607G>C"	"r.(?)"	"p.(Gly203Arg)"	"8"	"missense"	"Gly25Arg"
"0000704835"	"00005455"	"99"	"607"	"0"	"607"	"0"	"c.607G>T"	"r.(?)"	"p.(Gly203Cys)"	"8"	"missense"	"Gly25Cys"
"0000704836"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>A"	"r.(?)"	"p.(Gly203Asp)"	"8"	"missense"	"Gly25Asp"
"0000704837"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704838"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704839"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704840"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704841"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704842"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704843"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704844"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704845"	"00005455"	"59"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704846"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704847"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704848"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704849"	"00005455"	"99"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	"missense"	"Gly25Val"
"0000704850"	"00005455"	"11"	"612"	"0"	"612"	"0"	"c.612C>T"	"r.(?)"	"p.(=)"	"8"	"silent"	""
"0000704851"	"00005455"	"99"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704852"	"00005455"	"99"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704853"	"00005455"	"97"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704854"	"00005455"	"99"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704855"	"00005455"	"15"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704856"	"00005455"	"33"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704857"	"00005455"	"59"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704858"	"00005455"	"99"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704859"	"00005455"	"99"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704860"	"00005455"	"53"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704861"	"00005455"	"53"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704862"	"00005455"	"13"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704863"	"00005455"	"11"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704864"	"00005455"	"99"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704865"	"00005455"	"77"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000704866"	"00005455"	"99"	"614"	"0"	"614"	"0"	"c.614del"	"r.(?)"	"p.(Pro205Leufs*60)"	"8"	"frameshift"	""
"0000704867"	"00005455"	"95"	"614"	"0"	"614"	"0"	"c.614dup"	"r.?"	"p.(Gly206Trpfs*2)"	"8"	"frameshift"	""
"0000704868"	"00005455"	"99"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Gly206Asp)"	"8"	"missense"	"Gly28Asp"
"0000704869"	"00005455"	"99"	"626"	"0"	"626"	"0"	"c.626G>A"	"r.(?)"	"p.(Gly209Asp)"	"8"	"missense"	"Gly31Asp"
"0000704870"	"00005455"	"95"	"626"	"0"	"626"	"0"	"c.626G>A"	"r.?"	"p.(Gly209Asp)"	"8"	"missense"	"Gly31Asp"
"0000704871"	"00005455"	"99"	"630"	"0"	"630"	"0"	"c.630del"	"r.(?)"	"p.(Glu210Aspfs*55)"	"8"	"frameshift"	""
"0000704872"	"00005455"	"99"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Gly212Arg)"	"8"	"missense"	"Gly34Arg"
"0000704873"	"00005455"	"99"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Gly212Arg)"	"8"	"missense"	"Gly34Arg"
"0000704874"	"00005455"	"99"	"635"	"0"	"635"	"0"	"c.635G>A"	"r.(?)"	"p.(Gly212Glu)"	"8"	"missense"	"Gly34Glu"
"0000704875"	"00005455"	"99"	"635"	"0"	"635"	"0"	"c.635G>A"	"r.(?)"	"p.(Gly212Glu)"	"8"	"missense"	"Gly34Glu"
"0000704876"	"00005455"	"95"	"635"	"0"	"635"	"0"	"c.635G>A"	"r.?"	"p.(Gly212Glu)"	"8"	"missense"	"Gly34Glu"
"0000704877"	"00005455"	"99"	"642"	"1"	"642"	"1"	"c.642+1G>A"	"r.spl?"	"p.?"	"8i"	"splicing affected?"	""
"0000704878"	"00005455"	"99"	"642"	"1"	"642"	"1"	"c.642+1G>A"	"r.spl?"	"p.?"	"8i"	"splicing affected?"	""
"0000704879"	"00005455"	"95"	"642"	"1"	"642"	"1"	"c.642+1G>A"	"r.?"	"-"	"8i"	"splicing affected?"	""
"0000704880"	"00005455"	"95"	"642"	"4"	"642"	"4"	"c.642+4del"	"r.[(589_642del,589_661del,587_588ins588+1_588+96,617_642del)]"	"p.[(Gly197_Ser214de,Gly197Valfs*44,Pro196_Gly197ins32,Glu207Serfs*17)]"	"8i"	"splicing affected?"	""
"0000704881"	"00005455"	"99"	"642"	"5"	"642"	"5"	"c.642+5G>A"	"r.spl?"	"p.?"	"8i"	"splicing affected?"	""
"0000704882"	"00005455"	"99"	"642"	"5"	"642"	"5"	"c.642+5G>A"	"r.spl?"	"p.?"	"8i"	"splicing affected?"	""
"0000704883"	"00005455"	"99"	"642"	"5"	"642"	"5"	"c.642+5G>A"	"r.spl?"	"p.?"	"8i"	"splicing affected?"	""
"0000704884"	"00005455"	"99"	"642"	"5"	"642"	"5"	"c.642+5G>A"	"r.spl?"	"p.?"	"8i"	"splicing affected?"	""
"0000704885"	"00005455"	"95"	"642"	"5"	"642"	"5"	"c.642+5G>T"	"r.?"	"-"	"8i"	"splicing affected?"	""
"0000704886"	"00005455"	"99"	"643"	"-2"	"643"	"-2"	"c.643-2A>G"	"r.spl?"	"p.?"	"8i"	"splicing affected?"	""
"0000704887"	"00005455"	"99"	"643"	"-2"	"643"	"-2"	"c.643-2A>G"	"r.?"	"-"	"8i"	"splicing affected?"	""
"0000704888"	"00005455"	"99"	"643"	"0"	"643"	"0"	"c.643G>A"	"r.(?)"	"p.(Gly215Ser)"	"9"	"missense"	"Gly37Ser"
"0000704889"	"00005455"	"99"	"643"	"0"	"643"	"0"	"c.643G>A"	"r.(?)"	"p.(Gly215Ser)"	"9"	"missense"	"Gly37Ser"
"0000704890"	"00005455"	"99"	"643"	"0"	"643"	"0"	"c.643G>C"	"r.(?)"	"p.(Gly215Arg)"	"9"	"missense"	"Gly37Arg"
"0000704891"	"00005455"	"99"	"649"	"0"	"658"	"0"	"c.649_658del"	"r.(?)"	"p.(Met217Glufs*45)"	"9"	"frameshift"	""
"0000704892"	"00005455"	"99"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Gly218Asp)"	"9"	"missense"	"Gly40Asp"
"0000704893"	"00005455"	"95"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Gly218Asp)"	"9"	"missense"	"Gly40Asp"
"0000704894"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704895"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704896"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704897"	"00005455"	"59"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704898"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704899"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704900"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704901"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704902"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704903"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704904"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704905"	"00005455"	"95"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.?"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704906"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.?"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704907"	"00005455"	"95"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"9"	"nonsense"	"Arg42Stop"
"0000704908"	"00005455"	"99"	"658"	"0"	"658"	"0"	"c.658del"	"r.(?)"	"p.(Arg220Glufs*45)"	"9"	"frameshift"	""
"0000704909"	"00005455"	"99"	"661"	"0"	"661"	"0"	"c.661G>A"	"r.(?)"	"p.(Gly221Ser)"	"9"	"missense"	"Gly43Ser"
"0000704910"	"00005455"	"99"	"661"	"0"	"661"	"0"	"c.661G>C"	"r.(?)"	"p.(Gly221Arg)"	"9"	"missense"	"Gly43Arg"
"0000704911"	"00005455"	"59"	"661"	"0"	"661"	"0"	"c.661G>C"	"r.(?)"	"p.(Gly221Arg)"	"9"	"missense"	"Gly43Arg"
"0000704912"	"00005455"	"99"	"661"	"0"	"661"	"0"	"c.661G>T"	"r.(?)"	"p.(Gly221Cys)"	"9"	"missense"	"Gly43Cys"
"0000704913"	"00005455"	"99"	"661"	"0"	"661"	"0"	"c.661G>T"	"r.(?)"	"p.(Gly221Cys)"	"9"	"missense"	"Gly43Cys"
"0000704914"	"00005455"	"99"	"661"	"0"	"661"	"0"	"c.661G>T"	"r.(?)"	"p.(Gly221Cys)"	"9"	"missense"	"Gly43Cys"
"0000704915"	"00005455"	"79"	"662"	"0"	"662"	"0"	"c.662G>A"	"r.(?)"	"p.(Gly221Asp)"	"9"	"missense"	"Gly43Asp"
"0000704916"	"00005455"	"99"	"662"	"0"	"662"	"0"	"c.662G>A"	"r.(?)"	"p.(Gly221Asp)"	"9"	"missense"	"Gly43Asp"
"0000704917"	"00005455"	"99"	"662"	"0"	"662"	"0"	"c.662G>C"	"r.(?)"	"p.(Gly221Ala)"	"9"	"missense"	"Gly43Ala"
"0000704918"	"00005455"	"99"	"669"	"0"	"669"	"0"	"c.669del"	"r.(?)"	"p.(Gly224Valfs*41)"	"9"	"frameshift"	""
"0000704919"	"00005455"	"99"	"670"	"0"	"670"	"0"	"c.670G>T"	"r.(?)"	"p.(Gly224Cys)"	"9"	"missense"	"Gly46Cys"
"0000704920"	"00005455"	"99"	"671"	"0"	"671"	"0"	"c.671del"	"r.(?)"	"p.(Gly224Valfs*41)"	"9"	"frameshift"	""
"0000704921"	"00005455"	"99"	"671"	"0"	"671"	"0"	"c.671del"	"r.(?)"	"p.(Gly224Valfs*41)"	"9"	"frameshift"	""
"0000704922"	"00005455"	"79"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.(?)"	"p.(Gly224Asp)"	"9"	"missense"	"Gly46Asp"
"0000704923"	"00005455"	"95"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.?"	"p.(Gly224Asp)"	"9"	"missense"	"Gly46Asp"
"0000704924"	"00005455"	"99"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.?"	"p.(Gly224Asp)"	"9"	"missense"	"Gly46Asp"
"0000704925"	"00005455"	"99"	"672"	"0"	"673"	"0"	"c.672_673delinsA"	"r.(?)"	"p.(Pro226Leufs*39)"	"9"	"frameshift"	""
"0000704926"	"00005455"	"99"	"689"	"0"	"689"	"0"	"c.689G>A"	"r.(?)"	"p.(Gly230Glu)"	"9"	"missense"	"Gly52Glu"
"0000704927"	"00005455"	"99"	"696"	"1"	"696"	"1"	"c.696+1G>A"	"r.spl?"	"p.?"	"9"	"splicing affected?"	""
"0000704928"	"00005455"	"95"	"696"	"1"	"696"	"1"	"c.696+1G>T"	"r.?"	"-"	"9i"	"splicing affected?"	""
"0000704929"	"00005455"	"99"	"696"	"2"	"696"	"2"	"c.696+2T>G"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704930"	"00005455"	"99"	"697"	"-2"	"697"	"-2"	"c.697-2A>G"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704931"	"00005455"	"99"	"697"	"-2"	"697"	"-2"	"c.697-2A>G"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704932"	"00005455"	"99"	"697"	"-2"	"697"	"-2"	"c.697-2A>G"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704933"	"00005455"	"99"	"697"	"-2"	"697"	"-2"	"c.697-2A>G"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704934"	"00005455"	"99"	"697"	"-2"	"697"	"-2"	"c.697-2A>T"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704935"	"00005455"	"99"	"697"	"-2"	"697"	"-2"	"c.697-2del"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704936"	"00005455"	"99"	"697"	"-2"	"697"	"-1"	"c.697-2_697-1del"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704937"	"00005455"	"99"	"697"	"-2"	"697"	"-1"	"c.697-2_697-1del"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704938"	"00005455"	"99"	"697"	"-1"	"697"	"-1"	"c.697-1G>C"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704939"	"00005455"	"99"	"697"	"-1"	"697"	"-1"	"c.697-1G>T"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704940"	"00005455"	"99"	"697"	"-1"	"697"	"-1"	"c.697-1G>T"	"r.spl?"	"p.?"	"9i"	"splicing affected?"	""
"0000704941"	"00005455"	"99"	"697"	"0"	"697"	"0"	"c.697G>C"	"r.(?)"	"p.(Gly233Arg)"	"10"	"missense"	""
"0000704942"	"00005455"	"99"	"700"	"0"	"700"	"0"	"c.700del"	"r.(?)"	"p.(Glu234Lysfs*31)"	"10"	"frameshift"	""
"0000704943"	"00005455"	"99"	"700"	"0"	"700"	"0"	"c.700dup"	"r.(?)"	"p.(Glu234Glyfs*10)"	"10"	"frameshift"	""
"0000704944"	"00005455"	"99"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Gly239Asp)"	"10"	"missense"	"Gly61Asp"
"0000704945"	"00005455"	"99"	"725"	"0"	"725"	"0"	"c.725G>A"	"r.(?)"	"p.(Gly242Asp)"	"10"	"missense"	"Gly64Asp"
"0000704946"	"00005455"	"95"	"725"	"0"	"725"	"0"	"c.725G>T"	"r.?"	"p.(Gly242Val)"	"10"	"missense"	"Gly64Val"
"0000704947"	"00005455"	"95"	"734"	"0"	"734"	"0"	"c.734G>A"	"r.(?)"	"p.(Gly245Glu)"	"10"	"missense"	"Gly67Glu"
"0000704948"	"00005455"	"13"	"740"	"0"	"740"	"0"	"c.740C>T"	"r.(?)"	"p.(Pro247Leu)"	"10"	"missense"	"Pro69Leu"
"0000704949"	"00005455"	"99"	"742"	"0"	"742"	"0"	"c.742G>A"	"r.(?)"	"p.(Gly248Arg)"	"10"	"missense"	"Gly70Arg"
"0000704950"	"00005455"	"95"	"742"	"0"	"742"	"0"	"c.742G>A"	"r.(?)"	"p.(Gly248Arg)"	"10"	"missense"	"Gly70Arg"
"0000704951"	"00005455"	"99"	"743"	"0"	"743"	"0"	"c.743G>A"	"r.(?)"	"p.(Gly248Glu)"	"10"	"missense"	"Gly70Glu"
"0000704952"	"00005455"	"79"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704953"	"00005455"	"99"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704954"	"00005455"	"99"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704955"	"00005455"	"99"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704956"	"00005455"	"99"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704957"	"00005455"	"95"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.?"	"-"	"10i"	"splicing affected?"	""
"0000704958"	"00005455"	"99"	"750"	"1"	"750"	"1"	"c.750+1G>T"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704959"	"00005455"	"99"	"750"	"2"	"750"	"2"	"c.750+2T>A"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704960"	"00005455"	"99"	"750"	"2"	"750"	"2"	"c.750+2T>A"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704961"	"00005455"	"99"	"751"	"-3"	"755"	"0"	"c.751-3_755del"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704962"	"00005455"	"99"	"751"	"-1"	"751"	"-1"	"c.751-1G>C"	"r.spl?"	"p.?"	"10i"	"splicing affected?"	""
"0000704963"	"00005455"	"99"	"751"	"-1"	"1353"	"1"	"c.(750+1_751-1)_(1353+1_1354-1)del"	"r.?"	"p.(Gly251_Pro451del)"	"10i_20i"	"deletion, multi exon"	""
"0000704964"	"00005455"	"99"	"751"	"0"	"751"	"0"	"c.751G>C"	"r.(?)"	"p.(Gly251Arg)"	"11"	"missense"	"Gly73Arg"
"0000704965"	"00005455"	"99"	"751"	"0"	"751"	"0"	"c.751G>T"	"r.(?)"	"p.(Gly251Cys)"	"11"	"missense"	"Gly73Cys"
"0000704966"	"00005455"	"99"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"11"	"missense"	"Gly73Asp"
"0000704967"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704968"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704969"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704970"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704971"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704972"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704973"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704974"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704975"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704976"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704977"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704978"	"00005455"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.?"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704979"	"00005455"	"95"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"11"	"nonsense"	"Arg75Stop"
"0000704980"	"00005455"	"99"	"760"	"0"	"760"	"0"	"c.760G>A"	"r.(?)"	"p.(Gly254Arg)"	"11"	"missense"	"Gly76Arg"
"0000704981"	"00005455"	"99"	"761"	"0"	"761"	"0"	"c.761G>A"	"r.(?)"	"p.(Gly254Glu)"	"11"	"missense"	"Gly76Glu"
"0000704982"	"00005455"	"99"	"761"	"0"	"761"	"0"	"c.761G>A"	"r.(?)"	"p.(Gly254Glu)"	"11"	"missense"	"Gly76Glu"
"0000704983"	"00005455"	"99"	"768"	"0"	"768"	"0"	"c.768dup"	"r.(?)"	"p.(Gly257Argfs*30)"	"11"	"frameshift"	""
"0000704984"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704985"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704986"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704987"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704988"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704989"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704990"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704991"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704992"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704993"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704994"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704995"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704996"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704997"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704998"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000704999"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705000"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705001"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705002"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705003"	"00005455"	"79"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705004"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705005"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705006"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705007"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705008"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705009"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705010"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705011"	"00005455"	"59"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705012"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705013"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705014"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705015"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705016"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705017"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705018"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705019"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705020"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705021"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705022"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705023"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705024"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705025"	"00005455"	"99"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000705026"	"00005455"	"95"	"770"	"0"	"770"	"0"	"c.770G>T"	"r.?"	"p.(Gly257Val)"	"11"	"missense"	"Gly79Val"
"0000705027"	"00005455"	"99"	"775"	"0"	"775"	"0"	"c.775del"	"r.(?)"	"p.(Ala259Leufs*6)"	"11"	"frameshift"	""
"0000705028"	"00005455"	"99"	"779"	"0"	"779"	"0"	"c.779G>A"	"r.(?)"	"p.(Gly260Asp)"	"11"	"missense"	""
"0000705029"	"00005455"	"99"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Gly263Arg)"	"11"	"missense"	"Gly85Arg"
"0000705030"	"00005455"	"99"	"788"	"0"	"788"	"0"	"c.788G>A"	"r.(?)"	"p.(Gly263Glu)"	"11"	"missense"	"Gly85Glu"
"0000705031"	"00005455"	"99"	"788"	"0"	"788"	"0"	"c.788G>T"	"r.(?)"	"p.(Gly263Val)"	"11"	"missense"	"Gly85Val"
"0000705032"	"00005455"	"59"	"788"	"0"	"788"	"0"	"c.788G>T"	"r.(?)"	"p.(Gly263Val)"	"11"	"missense"	"Gly85Val"
"0000705033"	"00005455"	"99"	"790"	"0"	"790"	"0"	"c.790A>T"	"r.(?)"	"p.(Met264Leu)"	"11"	"missense"	"Met86Leu"
"0000705034"	"00005455"	"99"	"796"	"0"	"796"	"0"	"c.796G>A"	"r.(?)"	"p.(Gly266Arg)"	"11"	"missense"	"Gly88Arg"
"0000705035"	"00005455"	"99"	"797"	"0"	"797"	"0"	"c.797G>A"	"r.(?)"	"p.(Gly266Glu)"	"11"	"missense"	"Gly88Glu"
"0000705036"	"00005455"	"99"	"797"	"0"	"797"	"0"	"c.797G>A"	"r.(?)"	"p.(Gly266Glu)"	"11"	"missense"	"Gly88Glu"
"0000705037"	"00005455"	"99"	"797"	"0"	"797"	"0"	"c.797G>A"	"r.(?)"	"p.(Gly266Glu)"	"11"	"missense"	"Gly88Glu"
"0000705038"	"00005455"	"99"	"802"	"0"	"802"	"0"	"c.802del"	"r.(?)"	"p.(Arg268Glufs*273)"	"11"	"frameshift"	""
"0000705039"	"00005455"	"99"	"802"	"0"	"802"	"0"	"c.802del"	"r.(?)"	"p.(Arg268Glufs*273)"	"11"	"frameshift"	""
"0000705040"	"00005455"	"99"	"804"	"1"	"804"	"1"	"c.804+1G>A"	"r.spl?"	"p.?"	"11i"	"splicing affected?"	""
"0000705041"	"00005455"	"95"	"804"	"1"	"804"	"1"	"c.804+1G>A"	"r.spl?"	"p.?"	"11i"	"splicing affected?"	""
"0000705042"	"00005455"	"99"	"804"	"2"	"804"	"3"	"c.804+2_804+3del"	"r.spl?"	"p.?"	"11i"	"splicing affected?"	""
"0000705043"	"00005455"	"99"	"804"	"3"	"804"	"6"	"c.804+3_804+6del"	"r.spl?"	"p.?"	"11i"	"splicing affected?"	""
"0000705044"	"00005455"	"99"	"804"	"3"	"804"	"6"	"c.804+3_804+6del"	"r.spl?"	"p.?"	"11i"	"splicing affected?"	""
"0000705045"	"00005455"	"99"	"804"	"3"	"804"	"6"	"c.804+3_804+6del"	"r.spl?"	"p.?"	"11i"	"splicing affected?"	""
"0000705046"	"00005455"	"99"	"804"	"5"	"804"	"5"	"c.804+5G>C"	"r.spl?"	"p.?"	"11i"	"splicing affected?"	""
"0000705047"	"00005455"	"99"	"805"	"0"	"805"	"0"	"c.805G>A"	"r.(?)"	"p.(Gly269Ser)"	"12"	"missense"	"Gly91Ser"
"0000705048"	"00005455"	"99"	"806"	"0"	"806"	"0"	"c.806G>T"	"r.(?)"	"p.(Gly269Val)"	"12"	"missense"	"Gly91Val"
"0000705049"	"00005455"	"99"	"809"	"0"	"809"	"0"	"c.809del"	"r.(?)"	"p.(Phe270Serfs*271)"	"12"	"frameshift"	""
"0000705050"	"00005455"	"99"	"809"	"0"	"809"	"0"	"c.809dup"	"r.(?)"	"p.(Ser271Glnfs*16)"	"12"	"frameshift"	""
"0000705051"	"00005455"	"99"	"809"	"0"	"809"	"0"	"c.809dup"	"r.(?)"	"p.(Ser271Glnfs*16)"	"12"	"frameshift"	""
"0000705052"	"00005455"	"99"	"809"	"0"	"809"	"0"	"c.809dup"	"r.(?)"	"p.(Ser271Glnfs*16)"	"12"	"frameshift"	""
"0000705053"	"00005455"	"99"	"809"	"0"	"809"	"0"	"c.809dup"	"r.(?)"	"p.(Ser271Glnfs*16)"	"12"	"frameshift"	""
"0000705054"	"00005455"	"95"	"814"	"0"	"814"	"0"	"c.814G>A"	"r.?"	"p.(Gly272Ser)"	"12"	"missense"	"Gly94Ser"
"0000705055"	"00005455"	"99"	"814"	"0"	"814"	"0"	"c.814G>T"	"r.(?)"	"p.(Gly272Cys)"	"12"	"missense"	"Gly94Cys"
"0000705056"	"00005455"	"99"	"814"	"0"	"814"	"0"	"c.814G>T"	"r.(?)"	"p.(Gly272Cys)"	"12"	"missense"	"Gly94Cys"
"0000705057"	"00005455"	"99"	"814"	"0"	"814"	"0"	"c.814G>T"	"r.(?)"	"p.(Gly272Cys)"	"12"	"missense"	"Gly94Cys"
"0000705058"	"00005455"	"99"	"814"	"0"	"814"	"0"	"c.814G>T"	"r.(?)"	"p.(Gly272Cys)"	"12"	"missense"	"Gly94Cys"
"0000705059"	"00005455"	"99"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Gly275Ser)"	"12"	"missense"	"Gly97Ser"
"0000705060"	"00005455"	"99"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Gly275Ser)"	"12"	"missense"	"Gly97Ser"
"0000705061"	"00005455"	"99"	"823"	"0"	"823"	"0"	"c.823G>C"	"r.(?)"	"p.(Gly275Arg)"	"12"	"missense"	"Gly97Arg"
"0000705062"	"00005455"	"99"	"824"	"0"	"824"	"0"	"c.824G>A"	"r.(?)"	"p.(Gly275Asp)"	"12"	"missense"	"Gly97Asp"
"0000705063"	"00005455"	"99"	"833"	"0"	"833"	"0"	"c.833G>A"	"r.(?)"	"p.(Gly278Glu)"	"12"	"missense"	"Gly100Glu"
"0000705064"	"00005455"	"99"	"836"	"0"	"836"	"0"	"c.836dup"	"r.(?)"	"p.(Asp279Glufs*8)"	"12"	"frameshift"	""
"0000705065"	"00005455"	"99"	"841"	"0"	"841"	"0"	"c.841G>A"	"r.(?)"	"p.(Gly281Ser)"	"12"	"missense"	"Gly103Ser"
"0000705066"	"00005455"	"99"	"841"	"0"	"841"	"0"	"c.841G>A"	"r.(?)"	"p.(Gly281Ser)"	"12"	"missense"	"Gly103Ser"
"0000705067"	"00005455"	"99"	"842"	"0"	"842"	"0"	"c.842G>A"	"r.(?)"	"p.(Gly281Asp)"	"12"	"missense"	"Gly103Asp"
"0000705068"	"00005455"	"99"	"850"	"0"	"850"	"0"	"c.850G>A"	"r.(?)"	"p.(Gly284Ser)"	"12"	"missense"	"Gly106Ser"
"0000705069"	"00005455"	"99"	"851"	"0"	"851"	"0"	"c.851G>C"	"r.(?)"	"p.(Gly284Ala)"	"12"	"missense"	"Gly106Ala"
"0000705070"	"00005455"	"99"	"851"	"0"	"851"	"0"	"c.851G>C"	"r.(?)"	"p.(Gly284Ala)"	"12"	"missense"	"Gly106Ala"
"0000705071"	"00005455"	"99"	"851"	"0"	"851"	"0"	"c.851G>C"	"r.(?)"	"p.(Gly284Ala)"	"12"	"missense"	"Gly106Ala"
"0000705072"	"00005455"	"99"	"851"	"0"	"851"	"0"	"c.851G>C"	"r.(?)"	"p.(Gly284Ala)"	"12"	"missense"	"Gly106Ala"
"0000705073"	"00005455"	"99"	"858"	"1"	"858"	"1"	"c.858+1G>A"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705074"	"00005455"	"99"	"858"	"1"	"858"	"1"	"c.858+1G>A"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705075"	"00005455"	"95"	"858"	"1"	"858"	"1"	"c.858+1G>A"	"r.?"	"-"	"12i"	"splicing affected?"	""
"0000705076"	"00005455"	"95"	"858"	"1"	"858"	"1"	"c.858+1G>A"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705077"	"00005455"	"95"	"858"	"1"	"858"	"1"	"c.858+1G>A"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705078"	"00005455"	"99"	"858"	"1"	"858"	"1"	"c.858+1G>T"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705079"	"00005455"	"99"	"858"	"1"	"858"	"5"	"c.858+1_858+5del"	"r.spl?"	"p.?"	"12I"	"splicing affected?"	""
"0000705080"	"00005455"	"91"	"858"	"24"	"858"	"24"	"c.858+24G>A"	"r.(=)"	"p.(=)"	"12i"	"other/complex"	""
"0000705081"	"00005455"	"99"	"859"	"-2"	"859"	"-2"	"c.859-2A>C"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705082"	"00005455"	"99"	"859"	"-2"	"859"	"-2"	"c.859-2A>C"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705083"	"00005455"	"99"	"859"	"-2"	"859"	"-2"	"c.859-2A>G"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705084"	"00005455"	"99"	"859"	"-1"	"859"	"-1"	"c.859-1G>A"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705085"	"00005455"	"99"	"859"	"-1"	"859"	"-1"	"c.859-1G>A"	"r.spl?"	"p.?"	"12i"	"splicing affected?"	""
"0000705086"	"00005455"	"99"	"859"	"0"	"859"	"0"	"c.859G>A"	"r.(?)"	"p.(Gly287Ser)"	"13"	"missense"	"Gly109Ser"
"0000705087"	"00005455"	"99"	"859"	"0"	"859"	"0"	"c.859G>A"	"r.(?)"	"p.(Gly287Ser)"	"13"	"missense"	"Gly109Ser"
"0000705088"	"00005455"	"99"	"859"	"0"	"859"	"0"	"c.859G>A"	"r.(?)"	"p.(Gly287Ser)"	"13"	"missense"	"Gly109Ser"
"0000705089"	"00005455"	"99"	"860"	"0"	"860"	"0"	"c.860G>T"	"r.(?)"	"p.(Gly287Val)"	"13"	"missense"	""
"0000705090"	"00005455"	"55"	"862"	"0"	"862"	"0"	"c.862G>A"	"r.(?)"	"p.(Glu288Lys)"	"13"	"missense"	"Glu110Lys"
"0000705091"	"00005455"	"55"	"863"	"0"	"863"	"0"	"c.863A>T"	"r.(?)"	"p.(Glu288Val)"	"13"	"missense"	"Glu110Ala"
"0000705092"	"00005455"	"99"	"869"	"0"	"870"	"0"	"c.869_870delinsAA"	"r.(?)"	"p.(Gly290Glu)"	"13"	"missense"	"Gly112Glu"
"0000705093"	"00005455"	"99"	"878"	"0"	"878"	"0"	"c.878G>A"	"r.(?)"	"p.(Gly293Asp)"	"13"	"missense"	"Gly115Asp"
"0000705094"	"00005455"	"99"	"878"	"0"	"878"	"0"	"c.878G>T"	"r.(?)"	"p.(Gly293Val)"	"13"	"missense"	"Gly115Val"
"0000705095"	"00005455"	"99"	"887"	"0"	"887"	"0"	"c.887G>T"	"r.(?)"	"p.(Gly296Val)"	"13"	"missense"	"Gly118Val"
"0000705096"	"00005455"	"99"	"895"	"0"	"895"	"0"	"c.895G>C"	"r.(?)"	"p.(Gly299Arg)"	"13"	"missense"	"Gly121Arg"
"0000705097"	"00005455"	"95"	"895"	"0"	"895"	"0"	"c.895G>C"	"r.?"	"p.(Gly299Arg)"	"13"	"missense"	"Gly121Arg"
"0000705098"	"00005455"	"99"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Asp)"	"13"	"missense"	"Gly121Asp"
"0000705099"	"00005455"	"99"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Asp)"	"13"	"missense"	"Gly121Asp"
"0000705100"	"00005455"	"99"	"898"	"0"	"898"	"0"	"c.898C>T"	"r.?"	"p.(Gln300*)"	"13"	"nonsense"	"p.Gln122*"
"0000705101"	"00005455"	"99"	"903"	"1"	"903"	"1"	"c.903+1G>A"	"r.spl?"	"p.?"	"13i"	"splicing affected?"	""
"0000705102"	"00005455"	"99"	"903"	"1"	"903"	"1"	"c.903+1G>A"	"r.?"	"-"	"13i"	"splicing affected?"	""
"0000705103"	"00005455"	"95"	"904"	"-15"	"904"	"-15"	"c.904-15T>A"	"r.(903_904ins904-13_904-1)"	"p.(Gly302Valfs*12)"	"13i"	"splicing affected?"	""
"0000705104"	"00005455"	"99"	"904"	"-10"	"904"	"-10"	"c.904-10T>A"	"r.(=)"	"p.(=)"	"13i"	"splicing affected?"	""
"0000705105"	"00005455"	"99"	"904"	"-10"	"904"	"-10"	"c.904-10T>A"	"r.(903_904ins904-8_904-1)"	"p.(Gly302Valfs*242)"	"13i"	"splicing affected?"	""
"0000705106"	"00005455"	"99"	"904"	"-9"	"904"	"-9"	"c.904-9G>A"	"r.(=)"	"p.(=)"	"13i"	"splicing affected?"	""
"0000705107"	"00005455"	"99"	"904"	"-9"	"904"	"-9"	"c.904-9G>A"	"r.(=)"	"p.(=)"	"13i"	"splicing affected?"	""
"0000705108"	"00005455"	"95"	"904"	"-9"	"904"	"-9"	"c.904-9G>A"	"r.(=)"	"p.(=)"	"13i"	"splicing affected?"	""
"0000705109"	"00005455"	"93"	"904"	"-9"	"904"	"-9"	"c.904-9G>T"	"r.?"	"-"	"13i"	"other/complex"	""
"0000705110"	"00005455"	"95"	"910"	"0"	"910"	"0"	"c.910dup"	"r.?"	"p.(Arg304Profs*6)"	"14"	"frameshift"	""
"0000705111"	"00005455"	"99"	"913"	"0"	"913"	"0"	"c.913G>A"	"r.(?)"	"p.(Gly305Ser)"	"14"	"missense"	"Gly127Ser"
"0000705112"	"00005455"	"99"	"913"	"0"	"913"	"0"	"c.913G>A"	"r.(?)"	"p.(Gly305Ser)"	"14"	"missense"	"Gly127Ser"
"0000705113"	"00005455"	"99"	"913"	"0"	"913"	"0"	"c.913G>A"	"r.(?)"	"p.(Gly305Ser)"	"14"	"missense"	"Gly127Ser"
"0000705114"	"00005455"	"99"	"913"	"0"	"913"	"0"	"c.913G>C"	"r.(?)"	"p.(Gly305Arg)"	"14"	"missense"	"Gly127Arg"
"0000705115"	"00005455"	"99"	"913"	"0"	"913"	"0"	"c.913G>C"	"r.(?)"	"p.(Gly305Arg)"	"14"	"missense"	"Gly127Arg"
"0000705116"	"00005455"	"95"	"923"	"0"	"923"	"0"	"c.923G>T"	"r.?"	"p.(Gly308Val)"	"14"	"missense"	"Gly130Val"
"0000705117"	"00005455"	"99"	"931"	"0"	"931"	"0"	"c.931G>C"	"r.(?)"	"p.(Gly311Arg)"	"14"	"missense"	"Gly133Arg"
"0000705118"	"00005455"	"79"	"931"	"0"	"931"	"0"	"c.931G>C"	"r.(?)"	"p.(Gly311Arg)"	"14"	"missense"	"Gly133Arg"
"0000705119"	"00005455"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Gly311Asp)"	"14"	"missense"	"Gly133Asp"
"0000705120"	"00005455"	"99"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Gly311Asp)"	"14"	"missense"	"Gly133Asp"
"0000705121"	"00005455"	"99"	"932"	"0"	"932"	"0"	"c.932G>T"	"r.(?)"	"p.(Gly311Val)"	"14"	"missense"	"Gly133Val"
"0000705122"	"00005455"	"99"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	"14"	"missense"	"Arg134Cys"
"0000705123"	"00005455"	"99"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	"14"	"missense"	"Arg134Cys"
"0000705124"	"00005455"	"99"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	"14"	"missense"	"Arg134Cys"
"0000705125"	"00005455"	"99"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	"14"	"missense"	"Arg134Cys"
"0000705126"	"00005455"	"99"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	"14"	"missense"	"Arg134Cys"
"0000705127"	"00005455"	"99"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	"14"	"missense"	"Arg134Cys"
"0000705128"	"00005455"	"99"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	"14"	"missense"	"Arg134Cys"
"0000705129"	"00005455"	"99"	"940"	"0"	"940"	"0"	"c.940G>A"	"r.(?)"	"p.(Gly314Arg)"	"14"	"missense"	"Gly136Arg"
"0000705130"	"00005455"	"95"	"948"	"0"	"948"	"0"	"c.948del"	"r.?"	"p.(Gly317Alafs*224)"	"14"	"frameshift"	""
"0000705131"	"00005455"	"99"	"949"	"0"	"949"	"0"	"c.949G>A"	"r.(?)"	"p.(Gly317Ser)"	"14"	"missense"	"Gly139Ser"
"0000705132"	"00005455"	"99"	"953"	"0"	"953"	"0"	"c.953del"	"r.(?)"	"p.(Pro318Leufs*223)"	"14"	"frameshift"	""
"0000705133"	"00005455"	"99"	"957"	"2"	"1138"	"0"	"c.957+2_1138dup"	"r.spl?"	"p.(Gly320_Ala379dup)"	"14i"	"insertion"	""
"0000705134"	"00005455"	"99"	"957"	"5"	"957"	"5"	"c.957+5G>A"	"r.spl?"	"p.?"	"14i"	"splicing affected?"	""
"0000705135"	"00005455"	"99"	"957"	"5"	"957"	"5"	"c.957+5G>A"	"r.spl?"	"p.?"	"14i"	"splicing affected?"	""
"0000705136"	"00005455"	"99"	"958"	"-18"	"958"	"-15"	"c.958-18_958-15del"	"r.(=)"	"p.(=)"	"14i"	"splicing affected?"	""
"0000705137"	"00005455"	"99"	"959"	"0"	"959"	"0"	"c.959del"	"r.(?)"	"p.(Gly320Valfs*221)"	"15"	"frameshift"	""
"0000705138"	"00005455"	"99"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Gly320Asp)"	"15"	"missense"	"Gly142Asp"
"0000705139"	"00005455"	"99"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Gly320Asp)"	"15"	"missense"	"Gly142Asp"
"0000705140"	"00005455"	"99"	"959"	"0"	"959"	"0"	"c.959G>T"	"r.(?)"	"p.(Gly320Val)"	"15"	"missense"	"Gly142Val"
"0000705141"	"00005455"	"99"	"959"	"0"	"959"	"0"	"c.959G>T"	"r.(?)"	"p.(Gly320Val)"	"15"	"missense"	"Gly142Val"
"0000705142"	"00005455"	"99"	"959"	"0"	"959"	"0"	"c.959G>T"	"r.(?)"	"p.(Gly320Val)"	"15"	"missense"	"Gly142Val"
"0000705143"	"00005455"	"99"	"967"	"0"	"967"	"0"	"c.967G>A"	"r.(?)"	"p.(Gly323Arg)"	"15"	"missense"	"Gly145Arg"
"0000705144"	"00005455"	"99"	"967"	"0"	"967"	"0"	"c.967G>A"	"r.(?)"	"p.(Gly323Arg)"	"15"	"missense"	"Gly145Arg"
"0000705145"	"00005455"	"95"	"967"	"0"	"967"	"0"	"c.967G>A"	"r.?"	"p.(Gly323Arg)"	"15"	"missense"	"Gly145Arg"
"0000705146"	"00005455"	"99"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Gly323*)"	"15"	"nonsense"	"Gly145Stop"
"0000705147"	"00005455"	"99"	"968"	"0"	"968"	"0"	"c.968G>A"	"r.(?)"	"p.(Gly323Glu)"	"15"	"missense"	"Gly145Glu"
"0000705148"	"00005455"	"99"	"972"	"0"	"978"	"0"	"c.972_978dup"	"r.(?)"	"p.(Ala327*)"	"15"	"nonsense"	""
"0000705149"	"00005455"	"99"	"976"	"0"	"976"	"0"	"c.976G>A"	"r.(?)"	"p.(Gly326Ser)"	"15"	"missense"	"Gly148Ser"
"0000705150"	"00005455"	"99"	"976"	"0"	"976"	"0"	"c.976G>A"	"r.(?)"	"p.(Gly326Ser)"	"15"	"missense"	"Gly148Ser"
"0000705151"	"00005455"	"79"	"976"	"0"	"976"	"0"	"c.976G>C"	"r.?"	"p.(Gly326Arg)"	"15"	"missense"	""
"0000705152"	"00005455"	"79"	"976"	"0"	"976"	"0"	"c.976G>C"	"r.?"	"p.(Gly326Arg)"	"15"	"missense"	""
"0000705153"	"00005455"	"99"	"977"	"0"	"977"	"0"	"c.977G>A"	"r.(?)"	"p.(Gly326Asp)"	"15"	"missense"	"Gly148Asp"
"0000705154"	"00005455"	"99"	"977"	"0"	"977"	"0"	"c.977G>A"	"r.(?)"	"p.(Gly326Asp)"	"15"	"missense"	"Gly148Asp"
"0000705155"	"00005455"	"99"	"977"	"0"	"977"	"0"	"c.977G>A"	"r.(?)"	"p.(Gly326Asp)"	"15"	"missense"	"Gly148Asp"
"0000705156"	"00005455"	"99"	"977"	"0"	"977"	"0"	"c.977G>A"	"r.(?)"	"p.(Gly326Asp)"	"15"	"missense"	"Gly148Asp"
"0000705157"	"00005455"	"99"	"982"	"0"	"983"	"0"	"c.982_983dup"	"r.(?)"	"p.(Gly329Leufs*213)"	"15"	"frameshift"	""
"0000705158"	"00005455"	"99"	"983"	"0"	"984"	"0"	"c.983_984dup"	"r.(?)"	"p.(Gly329Leufs*213)"	"15"	"frameshift"	""
"0000705159"	"00005455"	"99"	"986"	"0"	"991"	"0"	"c.986_991del"	"r.(?)"	"p.(Gly329_Ala330del)"	"15"	"deletion"	""
"0000705160"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705161"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705162"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705163"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705164"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705165"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705166"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705167"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705168"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705169"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705170"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705171"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705172"	"00005455"	"95"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.?"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705173"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705174"	"00005455"	"99"	"994"	"0"	"994"	"0"	"c.994G>C"	"r.(?)"	"p.(Gly332Arg)"	"15"	"missense"	"Gly154Arg"
"0000705175"	"00005455"	"99"	"994"	"0"	"1001"	"0"	"c.994_1001del"	"r.(?)"	"p.(Gly332Trpfs*18)"	"15"	"frameshift"	""
"0000705176"	"00005455"	"99"	"995"	"0"	"995"	"0"	"c.995G>C"	"r.(?)"	"p.(Gly332Ala)"	"15"	"missense"	"Gly154Ala"
"0000705177"	"00005455"	"95"	"996"	"0"	"998"	"0"	"c.996_998del"	"r.?"	"p.(Pro334del)"	"15"	"deletion"	""
"0000705178"	"00005455"	"99"	"997"	"0"	"998"	"0"	"c.997_998delinsG"	"r.(?)"	"p.(Pro333Alafs*208)"	"15"	"frameshift"	""
"0000705179"	"00005455"	"99"	"1001"	"0"	"1001"	"0"	"c.1001dup"	"r.(?)"	"p.(Gly335Trpfs*18)"	"15"	"frameshift"	""
"0000705180"	"00005455"	"99"	"1002"	"2"	"1002"	"2"	"c.1002+2T>C"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705181"	"00005455"	"99"	"1002"	"2"	"1002"	"2"	"c.1002+2T>C"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705182"	"00005455"	"79"	"1002"	"5"	"1002"	"5"	"c.1002+5del"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705183"	"00005455"	"99"	"1002"	"5"	"1002"	"5"	"c.1002+5G>A"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705184"	"00005455"	"99"	"1003"	"-43"	"1003"	"-32"	"c.1003-43_1003-32del"	"r.(=)"	"p.(=)"	"15i"	"splicing affected?"	""
"0000705185"	"00005455"	"99"	"1003"	"-2"	"1003"	"-2"	"c.1003-2A>G"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705186"	"00005455"	"99"	"1003"	"-2"	"1003"	"-2"	"c.1003-2A>G"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705187"	"00005455"	"99"	"1003"	"-2"	"1003"	"-2"	"c.1003-2A>G"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705188"	"00005455"	"99"	"1003"	"-2"	"1003"	"-2"	"c.1003-2A>G"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705189"	"00005455"	"99"	"1003"	"-1"	"1003"	"-1"	"c.1003-1G>C"	"r.spl?"	"p.?"	"15i"	"splicing affected?"	""
"0000705190"	"00005455"	"95"	"1003"	"0"	"1003"	"0"	"c.1003G>A"	"r.?"	"p.(Gly335Ser)"	"16"	"missense"	"Gly157Ser"
"0000705191"	"00005455"	"99"	"1012"	"0"	"1012"	"0"	"c.1012G>A"	"r.(?)"	"p.(Gly338Ser)"	"16"	"missense"	"Gly160Ser"
"0000705192"	"00005455"	"99"	"1012"	"0"	"1012"	"0"	"c.1012G>A"	"r.(?)"	"p.(Gly338Ser)"	"16"	"missense"	"Gly160Ser"
"0000705193"	"00005455"	"99"	"1012"	"0"	"1012"	"0"	"c.1012G>A"	"r.(?)"	"p.(Gly338Ser)"	"16"	"missense"	"Gly160Ser"
"0000705194"	"00005455"	"99"	"1012"	"0"	"1012"	"0"	"c.1012G>T"	"r.(?)"	"p.(Gly338Cys)"	"16"	"missense"	"Gly160Cys"
"0000705195"	"00005455"	"99"	"1021"	"0"	"1021"	"0"	"c.1021G>C"	"r.(?)"	"p.(Gly341Arg)"	"16"	"missense"	""
"0000705196"	"00005455"	"99"	"1021"	"0"	"1021"	"0"	"c.1021G>T"	"r.(?)"	"p.(Gly341Cys)"	"16"	"missense"	"Gly163Cys"
"0000705197"	"00005455"	"99"	"1028"	"0"	"1028"	"0"	"c.1028del"	"r.(?)"	"p.(Pro343Leufs*198)"	"16"	"frameshift"	""
"0000705198"	"00005455"	"95"	"1028"	"0"	"1028"	"0"	"c.1028del"	"r.?"	"p.(Pro343Leufs*198)"	"16"	"frameshift"	""
"0000705199"	"00005455"	"79"	"1031"	"0"	"1031"	"0"	"c.1031G>A"	"r.(?)"	"p.(Gly344Asp)"	"16"	"missense"	"Gly166Asp"
"0000705200"	"00005455"	"99"	"1031"	"0"	"1031"	"0"	"c.1031G>T"	"r.(?)"	"p.(Gly344Val)"	"16"	"missense"	"Gly166Val"
"0000705201"	"00005455"	"93"	"1045"	"0"	"1045"	"0"	"c.1045G>T"	"r.(?)"	"p.(Val349Phe)"	"16"	"missense"	"Val171Phe"
"0000705202"	"00005455"	"33"	"1045"	"0"	"1045"	"0"	"c.1045G>T"	"r.(?)"	"p.(Val349Phe)"	"16"	"missense"	"Val171Phe"
"0000705203"	"00005455"	"99"	"1048"	"0"	"1048"	"0"	"c.1048G>C"	"r.(?)"	"p.(Gly350Arg)"	"16"	"missense"	"Gly172Arg"
"0000705204"	"00005455"	"99"	"1048"	"0"	"1048"	"0"	"c.1048G>C"	"r.(?)"	"p.(Gly350Arg)"	"16"	"missense"	"Gly172Arg"
"0000705205"	"00005455"	"99"	"1054"	"0"	"1056"	"2"	"c.1054_1056+2del"	"r.spl?"	"p.?"	"16"	"splicing affected?"	""
"0000705206"	"00005455"	"99"	"1054"	"0"	"1056"	"2"	"c.1054_1056+2del"	"r.spl?"	"p.?"	"16"	"splicing affected?"	""
"0000705207"	"00005455"	"99"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705208"	"00005455"	"99"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705209"	"00005455"	"99"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705211"	"00005455"	"99"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705212"	"00005455"	"99"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>C"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705213"	"00005455"	"99"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>G"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705214"	"00005455"	"99"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>G"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705215"	"00005455"	"99"	"1057"	"-1"	"1057"	"-1"	"c.1057-1G>T"	"r.spl?"	"p.?"	"16i"	"splicing affected?"	""
"0000705216"	"00005455"	"99"	"1057"	"0"	"1057"	"0"	"c.1057G>A"	"r.(?)"	"p.(Gly353Ser)"	"17"	"missense"	"Gly175Ser"
"0000705217"	"00005455"	"99"	"1057"	"0"	"1057"	"0"	"c.1057G>A"	"r.(?)"	"p.(Gly353Ser)"	"17"	"missense"	"Gly175Ser"
"0000705218"	"00005455"	"99"	"1057"	"0"	"1057"	"0"	"c.1057G>A"	"r.(?)"	"p.(Gly353Ser)"	"17"	"missense"	"Gly175Ser"
"0000705219"	"00005455"	"99"	"1057"	"0"	"1057"	"0"	"c.1057G>A"	"r.(?)"	"p.(Gly353Ser)"	"17"	"missense"	"Gly175Ser"
"0000705220"	"00005455"	"99"	"1057"	"0"	"1057"	"0"	"c.1057G>A"	"r.(?)"	"p.(Gly353Ser)"	"17"	"missense"	"Gly175Ser"
"0000705221"	"00005455"	"99"	"1057"	"0"	"1057"	"0"	"c.1057G>T"	"r.(?)"	"p.(Gly353Cys)"	"17"	"missense"	"Gly175Cys"
"0000705222"	"00005455"	"99"	"1057"	"0"	"1057"	"0"	"c.1057G>T"	"r.(?)"	"p.(Gly353Cys)"	"17"	"missense"	"Gly175Cys"
"0000705223"	"00005455"	"95"	"1057"	"0"	"1057"	"0"	"c.1057G>T"	"r.(?)"	"p.(Gly353Cys)"	"17"	"missense"	"Gly175Cys"
"0000705224"	"00005455"	"99"	"1058"	"0"	"1058"	"0"	"c.1058G>A"	"r.(?)"	"p.(Gly353Asp)"	"17"	"missense"	"Gly175Asp"
"0000705225"	"00005455"	"99"	"1065"	"0"	"1069"	"0"	"c.1065_1069del"	"r.(?)"	"p.(Gly356Profs*7)"	"17"	"frameshift"	""
"0000705226"	"00005455"	"95"	"1066"	"0"	"1066"	"0"	"c.1066G>A"	"r.?"	"p.(Gly356Ser)"	"17"	"missense"	"Gly178Ser"
"0000705227"	"00005455"	"95"	"1066"	"0"	"1066"	"0"	"c.1066G>A"	"r.?"	"p.(Gly356Ser)"	"17"	"missense"	"Gly178Ser"
"0000705228"	"00005455"	"99"	"1066"	"0"	"1066"	"0"	"c.1066G>T"	"r.(?)"	"p.(Gly356Cys)"	"17"	"missense"	"Gly178Cys"
"0000705229"	"00005455"	"99"	"1072"	"0"	"1072"	"0"	"c.1072C>T"	"r.(?)"	"p.(Gln358*)"	"17"	"nonsense"	""
"0000705230"	"00005455"	"99"	"1072"	"0"	"1072"	"0"	"c.1072C>T"	"r.(?)"	"p.(Gln358*)"	"17"	"nonsense"	""
"0000705231"	"00005455"	"99"	"1072"	"0"	"1072"	"0"	"c.1072del"	"r.(?)"	"p.(Gln358Lysfs*183)"	"17"	"frameshift"	""
"0000705232"	"00005455"	"99"	"1075"	"0"	"1075"	"0"	"c.1075G>A"	"r.(?)"	"p.(Gly359Arg)"	"17"	"missense"	"Gly181Arg"
"0000705233"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705234"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705235"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705236"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705237"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705238"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705239"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705240"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705241"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705242"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705243"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705244"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.?"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705245"	"00005455"	"95"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	"Arg183Stop"
"0000705246"	"00005455"	"95"	"1084"	"0"	"1084"	"0"	"c.1084G>A"	"r.?"	"p.(Gly362Ser)"	"17"	"missense"	"Gly184Ser"
"0000705247"	"00005455"	"79"	"1084"	"0"	"1084"	"0"	"c.1084G>A"	"r.?"	"p.(Gly362Ser)"	"17"	"missense"	"Gly184Ser"
"0000705248"	"00005455"	"99"	"1084"	"0"	"1084"	"0"	"c.1084G>C"	"r.(?)"	"p.(Gly362Ser)"	"17"	"missense"	"Gly184Ser"
"0000705249"	"00005455"	"99"	"1086"	"0"	"1102"	"0"	"c.1086_1102del"	"r.(?)"	"p.(Ser363Cysfs*4)"	"17"	"frameshift"	""
"0000705250"	"00005455"	"95"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.?"	"p.(Gly365Ser)"	"17"	"missense"	"Gly187Ser"
"0000705251"	"00005455"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>C"	"r.(?)"	"p.(Gly365Ala)"	"17"	"missense"	"Gly187Ala"
"0000705252"	"00005455"	"99"	"1094"	"0"	"1094"	"0"	"c.1094G>T"	"r.(?)"	"p.(Gly365Val)"	"17"	"missense"	"Gly187Val"
"0000705253"	"00005455"	"99"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Gln367*)"	"17"	"nonsense"	"Gln189Stop"
"0000705254"	"00005455"	"99"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Gln367*)"	"17"	"nonsense"	"Gln189Stop"
"0000705255"	"00005455"	"99"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Gln367*)"	"17"	"nonsense"	"Gln189Stop"
"0000705256"	"00005455"	"99"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Gln367*)"	"17"	"nonsense"	"Gln189Stop"
"0000705257"	"00005455"	"99"	"1102"	"0"	"1102"	"0"	"c.1102G>A"	"r.(?)"	"p.(Gly368Ser)"	"17"	"missense"	"Gly190Ser"
"0000705258"	"00005455"	"99"	"1102"	"0"	"1102"	"0"	"c.1102G>A"	"r.(?)"	"p.(Gly368Ser)"	"17"	"missense"	"Gly190Ser"
"0000705259"	"00005455"	"99"	"1102"	"0"	"1102"	"0"	"c.1102G>A"	"r.(?)"	"p.(Gly368Ser)"	"17"	"missense"	"Gly190Ser"
"0000705260"	"00005455"	"99"	"1103"	"0"	"1103"	"0"	"c.1103G>A"	"r.(?)"	"p.(Gly368Asp)"	"17"	"missense"	"Gly190Asp"
"0000705261"	"00005455"	"95"	"1103"	"0"	"1103"	"0"	"c.1103G>C"	"r.?"	"p.(Gly368Ala)"	"17"	"missense"	"Gly190Ala"
"0000705262"	"00005455"	"99"	"1103"	"0"	"1103"	"0"	"c.1103G>T"	"r.(?)"	"p.(Gly368Val)"	"17"	"missense"	"Gly190Val"
"0000705263"	"00005455"	"99"	"1111"	"0"	"1111"	"0"	"c.1111G>A"	"r.(?)"	"p.(Gly371Ser)"	"17"	"missense"	"Gly193Ser"
"0000705264"	"00005455"	"99"	"1111"	"0"	"1111"	"0"	"c.1111G>A"	"r.(?)"	"p.(Gly371Ser)"	"17"	"missense"	"Gly193Ser"
"0000705265"	"00005455"	"99"	"1111"	"0"	"1111"	"0"	"c.1111G>A"	"r.(?)"	"p.(Gly371Ser)"	"17"	"missense"	"Gly193Ser"
"0000705266"	"00005455"	"99"	"1121"	"0"	"1121"	"0"	"c.1121G>C"	"r.(?)"	"p.(Gly374Ala)"	"17"	"missense"	"Gly196Ala"
"0000705267"	"00005455"	"99"	"1121"	"0"	"1121"	"0"	"c.1121G>C"	"r.(?)"	"p.(Gly374Ala)"	"17"	"missense"	"Gly196Ala"
"0000705268"	"00005455"	"99"	"1121"	"0"	"1121"	"0"	"c.1121G>C"	"r.?"	"p.(Gly374Ala)"	"17"	"missense"	"Gly196Ala"
"0000705269"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127del"	"r.(?)"	"p.(Pro376Leufs*165)"	"17"	"frameshift"	""
"0000705270"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127del"	"r.(?)"	"p.(Pro376Leufs*165)"	"17"	"frameshift"	""
"0000705271"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377Trpfs*15)"	"17"	"frameshift"	""
"0000705272"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377Trpfs*15)"	"17"	"frameshift"	""
"0000705273"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377Trpfs*15)"	"17"	"frameshift"	""
"0000705274"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377Trpfs*15)"	"17"	"frameshift"	""
"0000705275"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377Trpfs*15)"	"17"	"frameshift"	""
"0000705276"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377Trpfs*15)"	"17"	"frameshift"	""
"0000705277"	"00005455"	"99"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377Trpfs*15)"	"17"	"frameshift"	""
"0000705278"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705279"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705280"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705281"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705282"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705283"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705284"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705285"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705286"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705287"	"00005455"	"95"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.?"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705288"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	""
"0000705289"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.?"	"p.(Gly377Alafs*164)"	"17"	"frameshift"	"p.Gly199Alafs*164"
"0000705290"	"00005455"	"99"	"1128"	"0"	"1129"	"0"	"c.1128_1129insC"	"r.(?)"	"p.(Gly377Argfs*15)"	"17"	"frameshift"	""
"0000705291"	"00005455"	"99"	"1129"	"0"	"1129"	"0"	"c.1129G>A"	"r.(?)"	"p.(Gly377Ser)"	"17"	"missense"	"Gly199Ser"
"0000705292"	"00005455"	"99"	"1130"	"0"	"1130"	"0"	"c.1130G>C"	"r.(?)"	"p.(Gly377Ala)"	"17"	"missense"	"Gly199Ala"
"0000705293"	"00005455"	"79"	"1138"	"0"	"1138"	"0"	"c.1138G>A"	"r.(?)"	"p.(Gly380Ser)"	"17"	"missense"	"Gly202Ser"
"0000705294"	"00005455"	"59"	"1138"	"0"	"1138"	"0"	"c.1138G>A"	"r.(?)"	"p.(Gly380Ser)"	"17"	"missense"	"Gly202Ser"
"0000705295"	"00005455"	"95"	"1138"	"0"	"1138"	"0"	"c.1138G>A"	"r.?"	"p.(Gly380Ser)"	"17"	"missense"	"Gly202Ser"
"0000705296"	"00005455"	"99"	"1138"	"0"	"1138"	"0"	"c.1138G>T"	"r.(?)"	"p.(Gly380Cys)"	"17"	"missense"	"Gly202Cys"
"0000705297"	"00005455"	"99"	"1138"	"0"	"1138"	"0"	"c.1138G>T"	"r.?"	"p.(Gly380Cys)"	"17"	"missense"	"Gly202Cys"
"0000705298"	"00005455"	"99"	"1138"	"0"	"1138"	"0"	"c.1138G>T"	"r.?"	"p.(Gly380Cys)"	"17"	"missense"	"Gly202Cys"
"0000705299"	"00005455"	"99"	"1139"	"0"	"1139"	"0"	"c.1139G>T"	"r.(?)"	"p.(Gly380Val)"	"17"	"missense"	"Gly202Val"
"0000705300"	"00005455"	"99"	"1147"	"0"	"1147"	"0"	"c.1147G>A"	"r.(?)"	"p.(Gly383Ser)"	"17"	"missense"	"Gly205Ser"
"0000705301"	"00005455"	"99"	"1147"	"0"	"1147"	"0"	"c.1147G>T"	"r.(?)"	"p.(Gly383Cys)"	"17"	"missense"	"Gly205Cys"
"0000705302"	"00005455"	"99"	"1147"	"0"	"1147"	"0"	"c.1147G>T"	"r.(?)"	"p.(Gly383Cys)"	"17"	"missense"	"Gly205Cys"
"0000705303"	"00005455"	"99"	"1147"	"0"	"1147"	"0"	"c.1147G>T"	"r.(?)"	"p.(Gly383Cys)"	"17"	"missense"	"Gly205Cys"
"0000705304"	"00005455"	"59"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705305"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705306"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705307"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705308"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705309"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705310"	"00005455"	"95"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.?"	"-"	"17i"	"splicing affected?"	""
"0000705311"	"00005455"	"95"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.?"	"-"	"17i"	"splicing affected?"	""
"0000705312"	"00005455"	"95"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.?"	"-"	"17i"	"splicing affected?"	""
"0000705313"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.?"	"-"	"17i"	"splicing affected?"	""
"0000705314"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705315"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705316"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705317"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705318"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705319"	"00005455"	"99"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705320"	"00005455"	"99"	"1155"	"2"	"1155"	"2"	"c.1155+2T>G"	"r.spl?"	"p.?"	"17"	"splicing affected?"	""
"0000705321"	"00005455"	"95"	"1155"	"3"	"1155"	"3"	"c.1155+3del"	"r.(1057_1155del)"	"p.(Gly353_Ala385del)"	"17i"	"splicing affected?"	""
"0000705322"	"00005455"	"99"	"1155"	"3"	"1155"	"6"	"c.1155+3_1155+6del"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705323"	"00005455"	"99"	"1155"	"3"	"1155"	"6"	"c.1155+3_1155+6del"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705324"	"00005455"	"99"	"1156"	"-1"	"1156"	"-1"	"c.1156-1G>A"	"r.spl?"	"p.?"	"17i"	"splicing affected?"	""
"0000705325"	"00005455"	"99"	"1163"	"0"	"1163"	"0"	"c.1163del"	"r.(?)"	"p.(Pro388Leufs*153)"	"18"	"frameshift"	""
"0000705326"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>A"	"r.(?)"	"p.(Gly389Ser)"	"18"	"missense"	"Gly211Ser"
"0000705327"	"00005455"	"59"	"1165"	"0"	"1165"	"0"	"c.1165G>A"	"r.(?)"	"p.(Gly389Ser)"	"18"	"missense"	"Gly211Ser"
"0000705328"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>A"	"r.(?)"	"p.(Gly389Ser)"	"18"	"missense"	"Gly211Ser"
"0000705329"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>A"	"r.(?)"	"p.(Gly389Ser)"	"18"	"missense"	"Gly211Ser"
"0000705330"	"00005455"	"95"	"1165"	"0"	"1165"	"0"	"c.1165G>A"	"r.?"	"p.(Gly389Ser)"	"18"	"missense"	"Gly211Ser"
"0000705331"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>C"	"r.(?)"	"p.(Gly389Arg)"	"18"	"missense"	"Gly211Arg"
"0000705332"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>T"	"r.(?)"	"p.(Gly389Cys)"	"18"	"missense"	"Gly211Cys"
"0000705333"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>T"	"r.(?)"	"p.(Gly389Cys)"	"18"	"missense"	"Gly211Cys"
"0000705334"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>T"	"r.(?)"	"p.(Gly389Cys)"	"18"	"missense"	"Gly211Cys"
"0000705335"	"00005455"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>T"	"r.?"	"p.(Gly389Cys)"	"18"	"missense"	"Gly211Cys"
"0000705336"	"00005455"	"99"	"1166"	"0"	"1166"	"0"	"c.1166G>C"	"r.(?)"	"p.(Gly389Ala)"	"18"	"missense"	"Gly211Ala"
"0000705337"	"00005455"	"91"	"1168"	"0"	"1168"	"0"	"c.1168G>A"	"r.(?)"	"p.(Ala390Thr)"	"18"	"missense"	""
"0000705338"	"00005455"	"11"	"1168"	"0"	"1168"	"0"	"c.1168G>A"	"r.(?)"	"p.(Ala390Thr)"	"18"	"missense"	""
"0000705339"	"00005455"	"99"	"1174"	"0"	"1174"	"0"	"c.1174G>A"	"r.(?)"	"p.(Gly392Arg)"	"18"	"missense"	"Gly214Arg"
"0000705340"	"00005455"	"99"	"1175"	"0"	"1175"	"0"	"c.1175G>A"	"r.(?)"	"p.(Gly392Glu)"	"18"	"missense"	"Gly214Glu"
"0000705341"	"00005455"	"99"	"1183"	"0"	"1183"	"0"	"c.1183G>A"	"r.(?)"	"p.(Gly395Ser)"	"18"	"missense"	"Gly217Ser"
"0000705342"	"00005455"	"97"	"1186"	"0"	"1186"	"0"	"c.1186G>A"	"r.(?)"	"p.(Ala396Thr)"	"18"	"missense"	"Ala218Thr"
"0000705343"	"00005455"	"95"	"1192"	"0"	"1192"	"0"	"c.1192G>A"	"r.(?)"	"p.(Gly398Ser)"	"18"	"missense"	"Gly220Ser"
"0000705344"	"00005455"	"99"	"1192"	"0"	"1192"	"0"	"c.1192G>T"	"r.(?)"	"p.(Gly398Cys)"	"18"	"missense"	"Gly220Cys"
"0000705345"	"00005455"	"99"	"1193"	"0"	"1193"	"0"	"c.1193G>A"	"r.(?)"	"p.(Gly398Asp)"	"18"	"missense"	"Gly220Asp"
"0000705346"	"00005455"	"99"	"1193"	"0"	"1193"	"0"	"c.1193G>A"	"r.(?)"	"p.(Gly398Asp)"	"18"	"missense"	"Gly220Asp"
"0000705347"	"00005455"	"99"	"1193"	"0"	"1193"	"0"	"c.1193G>C"	"r.(?)"	"p.(Gly398Ala)"	"18"	"missense"	"Gly220Ala"
"0000705348"	"00005455"	"99"	"1193"	"0"	"1193"	"0"	"c.1193G>C"	"r.(?)"	"p.(Gly398Ala)"	"18"	"missense"	"Gly220Ala"
"0000705349"	"00005455"	"99"	"1200"	"1"	"1200"	"1"	"c.1200+1G>T"	"r.spl"	"p.?"	"18"	"splicing affected"	""
"0000705350"	"00005455"	"79"	"1200"	"1"	"1200"	"2"	"c.1200+1_1200+2del"	"r.spl?"	"p.?"	"18"	"splicing affected?"	""
"0000705351"	"00005455"	"99"	"1200"	"1"	"1200"	"1"	"c.1200+1G>A"	"r.spl?"	"p.?"	"18i"	"splicing affected?"	""
"0000705352"	"00005455"	"95"	"1200"	"1"	"1200"	"1"	"c.1200+1G>A"	"r.spl?"	"p.?"	"18i"	"splicing affected?"	""
"0000705353"	"00005455"	"99"	"1200"	"1"	"1200"	"1"	"c.1200+1G>A"	"r.?"	"-"	"18i"	"splicing affected?"	""
"0000705354"	"00005455"	"99"	"1200"	"1"	"1200"	"1"	"c.1200+1G>C"	"r.spl?"	"p.?"	"18i"	"splicing affected?"	""
"0000705355"	"00005455"	"95"	"1200"	"1"	"1200"	"1"	"c.1200+1G>T"	"r.?"	"-"	"18i"	"splicing affected?"	""
"0000705356"	"00005455"	"99"	"1201"	"-1"	"1201"	"-1"	"c.1201-1G>A"	"r.spl?"	"p.?"	"18i"	"splicing affected?"	""
"0000705357"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.(?)"	"p.(Gly401Ser)"	"19"	"missense"	"Gly223Ser"
"0000705358"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.(?)"	"p.(Gly401Ser)"	"19"	"missense"	"Gly223Ser"
"0000705359"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.(?)"	"p.(Gly401Ser)"	"19"	"missense"	"Gly223Ser"
"0000705360"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.(?)"	"p.(Gly401Ser)"	"19"	"missense"	"Gly223Ser"
"0000705361"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.(?)"	"p.(Gly401Ser)"	"19"	"missense"	"Gly223Ser"
"0000705362"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>T"	"r.(?)"	"p.(Gly401Cys)"	"19"	"missense"	"Gly223Cys"
"0000705363"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>T"	"r.(?)"	"p.(Gly401Cys)"	"19"	"missense"	"Gly223Cys"
"0000705364"	"00005455"	"99"	"1201"	"0"	"1201"	"0"	"c.1201G>T"	"r.(?)"	"p.(Gly401Cys)"	"19"	"missense"	"Gly223Cys"
"0000705365"	"00005455"	"79"	"1201"	"0"	"1201"	"0"	"c.1201G>T"	"r.(?)"	"p.(Gly401Cys)"	"19"	"missense"	"Gly223Cys"
"0000705366"	"00005455"	"99"	"1201"	"0"	"1202"	"0"	"c.1201_1202del"	"r.(?)"	"p.(Gly401Cysfs*31)"	"19"	"frameshift"	""
"0000705367"	"00005455"	"99"	"1202"	"0"	"1202"	"0"	"c.1202G>A"	"r.(?)"	"p.(Gly401Asp)"	"19"	"missense"	"Gly223Asp"
"0000705368"	"00005455"	"55"	"1205"	"0"	"1205"	"0"	"c.1205C>T"	"r.(?)"	"p.(Ala402Val)"	"19"	"missense"	"Ala224Val"
"0000705369"	"00005455"	"99"	"1210"	"0"	"1210"	"0"	"c.1210G>A"	"r.(?)"	"p.(Gly404Ser)"	"19"	"missense"	"Gly226Ser"
"0000705370"	"00005455"	"99"	"1210"	"0"	"1210"	"0"	"c.1210G>T"	"r.(?)"	"p.(Gly404Cys)"	"19"	"missense"	"Gly226Cys"
"0000705371"	"00005455"	"99"	"1211"	"0"	"1211"	"0"	"c.1211G>C"	"r.(?)"	"p.(Gly404Ala)"	"19"	"missense"	"Gly226Ala"
"0000705372"	"00005455"	"99"	"1219"	"0"	"1219"	"0"	"c.1219G>A"	"r.(?)"	"p.(Gly407Ser)"	"19"	"missense"	"Gly229Ser"
"0000705373"	"00005455"	"99"	"1219"	"0"	"1219"	"0"	"c.1219G>A"	"r.(?)"	"p.(Gly407Ser)"	"19"	"missense"	"Gly229Ser"
"0000705374"	"00005455"	"99"	"1219"	"0"	"1219"	"0"	"c.1219G>T"	"r.(?)"	"p.(Gly407Cys)"	"19"	"missense"	"Gly229Cys"
"0000705375"	"00005455"	"99"	"1222"	"0"	"1222"	"0"	"c.1222G>A"	"r.?"	"p.(Gly410Ser)"	"19"	"missense"	""
"0000705376"	"00005455"	"99"	"1228"	"0"	"1228"	"0"	"c.1228G>A"	"r.(?)"	"p.(Gly410Ser)"	"19"	"missense"	"Gly232Ser"
"0000705377"	"00005455"	"55"	"1235"	"0"	"1235"	"0"	"c.1235C>G"	"r.(?)"	"p.(Pro412Arg)"	"19"	"missense"	"Pro234Arg"
"0000705378"	"00005455"	"99"	"1238"	"0"	"1238"	"0"	"c.1238G>C"	"r.(?)"	"p.(Gly413Ala)"	"19"	"missense"	"Gly235Ala"
"0000705379"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705380"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705381"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705382"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705383"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705384"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705385"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705386"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705387"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705388"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705389"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705390"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705391"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705392"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705393"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705394"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705395"	"00005455"	"95"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.?"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705396"	"00005455"	"95"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.?"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705397"	"00005455"	"99"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.?"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705398"	"00005455"	"95"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	"19"	"nonsense"	"Arg237Stop"
"0000705399"	"00005455"	"99"	"1249"	"0"	"1249"	"0"	"c.1249C>G"	"r.(?)"	"p.(Pro417Ala)"	"19"	"missense"	"Pro239Ala"
"0000705400"	"00005455"	"99"	"1251"	"0"	"1251"	"0"	"c.1251del"	"r.(?)"	"p.(Ser418Leufs*123)"	"19"	"frameshift"	""
"0000705401"	"00005455"	"99"	"1251"	"0"	"1251"	"0"	"c.1251del"	"r.(?)"	"p.(Ser418Leufs*123)"	"19"	"frameshift"	""
"0000705402"	"00005455"	"99"	"1251"	"0"	"1251"	"0"	"c.1251del"	"r.(?)"	"p.(Ser418Leufs*123)"	"19"	"frameshift"	""
"0000705403"	"00005455"	"99"	"1256"	"0"	"1256"	"0"	"c.1256G>A"	"r.(?)"	"p.(Gly419Glu)"	"19"	"missense"	"Gly241Glu"
"0000705404"	"00005455"	"99"	"1262"	"0"	"1269"	"0"	"c.1262_1269dup"	"r.(?)"	"p.(Gly424Argfs*120)"	"19"	"frameshift"	""
"0000705405"	"00005455"	"99"	"1264"	"0"	"1264"	"0"	"c.1264G>T"	"r.(?)"	"p.(Gly422Cys)"	"19"	"missense"	"Gly244Cys"
"0000705406"	"00005455"	"99"	"1265"	"0"	"1265"	"0"	"c.1265del"	"r.(?)"	"p.(Gly422Alafs*119)"	"19"	"frameshift"	""
"0000705407"	"00005455"	"99"	"1265"	"0"	"1265"	"0"	"c.1265G>C"	"r.(?)"	"p.(Gly422Ala)"	"19"	"missense"	"Gly244Ala"
"0000705408"	"00005455"	"99"	"1269"	"0"	"1269"	"0"	"c.1269del"	"r.(?)"	"p.(Gly424Alafs*117)"	"19"	"frameshift"	""
"0000705409"	"00005455"	"99"	"1269"	"0"	"1269"	"0"	"c.1269del"	"r.(?)"	"p.(Gly424Alafs*117)"	"19"	"frameshift"	""
"0000705410"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705411"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705412"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705413"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705414"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705415"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705416"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705417"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705418"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705419"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705420"	"00005455"	"99"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	"missense"	"Gly247Ser"
"0000705421"	"00005455"	"99"	"1282"	"0"	"1282"	"0"	"c.1282G>T"	"r.(?)"	"p.(Gly428Cys)"	"19"	"missense"	"Gly250Cys"
"0000705422"	"00005455"	"99"	"1290"	"0"	"1290"	"0"	"c.1290del"	"r.?"	"p.(Gly431Valfs*110)"	"19"	"frameshift"	"p.(Gly253Valfs*110)"
"0000705423"	"00005455"	"99"	"1292"	"0"	"1292"	"0"	"c.1292del"	"r.(?)"	"p.(Gly431Valfs*110)"	"19"	"frameshift"	""
"0000705424"	"00005455"	"99"	"1292"	"0"	"1292"	"0"	"c.1292del"	"r.(?)"	"p.(Gly431Valfs*110)"	"19"	"frameshift"	""
"0000705425"	"00005455"	"99"	"1292"	"0"	"1292"	"0"	"c.1292G>T"	"r.(?)"	"p.(Gly431Val)"	"19"	"missense"	"Gly253Val"
"0000705426"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705427"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705428"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705429"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705430"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705431"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705432"	"00005455"	"95"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705433"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705434"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705435"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705436"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705437"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705438"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.?"	"-"	"19i"	"splicing affected?"	""
"0000705439"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705440"	"00005455"	"95"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.?"	"-"	"19i"	"splicing affected?"	""
"0000705441"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.?"	"-"	"19i"	"splicing affected?"	""
"0000705442"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.?"	"-"	"19i"	"splicing affected?"	""
"0000705443"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>C"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705444"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>C"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705445"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>C"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705446"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>C"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705447"	"00005455"	"99"	"1299"	"1"	"1299"	"1"	"c.1299+1G>C"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705448"	"00005455"	"95"	"1299"	"1"	"1299"	"1"	"c.1299+1G>C"	"r.?"	"-"	"19i"	"splicing affected?"	""
"0000705449"	"00005455"	"99"	"1300"	"-1"	"1300"	"-1"	"c.1300-1G>A"	"r.spl?"	"p.?"	"19i"	"splicing affected?"	""
"0000705450"	"00005455"	"95"	"1300"	"-1"	"1300"	"-1"	"c.1300-1G>A"	"r.?"	"-"	"19i"	"splicing affected?"	""
"0000705451"	"00005455"	"99"	"1301"	"0"	"1301"	"0"	"c.1301G>T"	"r.(?)"	"p.(Gly434Val)"	"20"	"missense"	"Gly256Val"
"0000705452"	"00005455"	"99"	"1309"	"0"	"1309"	"0"	"c.1309G>T"	"r.(?)"	"p.(Gly437Cys)"	"20"	"missense"	"Gly259Cys"
"0000705453"	"00005455"	"99"	"1310"	"0"	"1310"	"0"	"c.1310del"	"r.(?)"	"p.(Gly437Valfs*104)"	"20"	"frameshift"	""
"0000705454"	"00005455"	"99"	"1310"	"0"	"1310"	"0"	"c.1310G>A"	"r.(?)"	"p.(Gly437Asp)"	"20"	"missense"	"Gly259Asp"
"0000705455"	"00005455"	"95"	"1310"	"0"	"1310"	"0"	"c.1310G>C"	"r.?"	"p.(Gly437Ala)"	"20"	"missense"	"Gly259Ala"
"0000705456"	"00005455"	"57"	"1316"	"0"	"1316"	"0"	"c.1316C>T"	"r.(?)"	"p.(Pro439Leu)"	"20"	"missense"	"Pro261Leu"
"0000705457"	"00005455"	"99"	"1316"	"0"	"1316"	"0"	"c.1316del"	"r.(?)"	"p.(Pro439Leufs*102)"	"20"	"frameshift"	""
"0000705458"	"00005455"	"99"	"1316"	"0"	"1316"	"0"	"c.1316del"	"r.(?)"	"p.(Pro439Leufs*102)"	"20"	"frameshift"	""
"0000705459"	"00005455"	"95"	"1319"	"0"	"1319"	"0"	"c.1319G>C"	"r.(?)"	"p.(Gly440Ala)"	"20"	"missense"	"Gly262Ala"
"0000705460"	"00005455"	"97"	"1350"	"0"	"1350"	"0"	"c.1350G>C"	"r.(?)"	"p.(Glu450Asp)"	"20"	"missense"	"Glu272Asp"
"0000705461"	"00005455"	"99"	"1353"	"1"	"1353"	"1"	"c.1353+1G>A"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705462"	"00005455"	"99"	"1353"	"1"	"1353"	"1"	"c.1353+1G>C"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705463"	"00005455"	"99"	"1353"	"1"	"1353"	"1"	"c.1353+1G>T"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705464"	"00005455"	"99"	"1353"	"2"	"1353"	"2"	"c.1353+2T>C"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705465"	"00005455"	"99"	"1353"	"2"	"1353"	"2"	"c.1353+2T>G"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705466"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.(=)"	"p.(=)"	"20i"	"splicing affected?"	""
"0000705467"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.(=)"	"p.(=)"	"20i"	"splicing affected?"	""
"0000705468"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.(=)"	"p.(=)"	"20i"	"splicing affected?"	""
"0000705469"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.(=)"	"p.(=)"	"20i"	"splicing affected?"	""
"0000705470"	"00005455"	"99"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.(=)"	"p.(=)"	"20i"	"splicing affected?"	""
"0000705471"	"00005455"	"95"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.(1353_1354ins1354-10_1354-1)"	"p.(Gly452Profs*26)"	"20i"	"splicing affected?"	""
"0000705472"	"00005455"	"95"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.?"	"-"	"20i"	"splicing affected?"	""
"0000705473"	"00005455"	"99"	"1354"	"-2"	"1354"	"-2"	"c.1354-2A>C"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705474"	"00005455"	"99"	"1354"	"-2"	"1354"	"-2"	"c.1354-2A>G"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705475"	"00005455"	"99"	"1354"	"-2"	"1354"	"-2"	"c.1354-2A>G"	"r.spl?"	"p.?"	"20i"	"splicing affected?"	""
"0000705476"	"00005455"	"99"	"1363"	"0"	"1363"	"0"	"c.1363G>T"	"r.(?)"	"p.(Gly455Cys)"	"21"	"missense"	"Gly277Cys"
"0000705477"	"00005455"	"99"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Gly455Asp)"	"21"	"missense"	"Gly277Asp"
"0000705478"	"00005455"	"97"	"1375"	"0"	"1375"	"0"	"c.1375C>T"	"r.(?)"	"p.(Pro459Ser)"	"21"	"missense"	"Pro281Ser"
"0000705479"	"00005455"	"99"	"1379"	"0"	"1379"	"0"	"c.1379del"	"r.(?)"	"p.(Pro460Leufs*81)"	"21"	"frameshift"	""
"0000705480"	"00005455"	"99"	"1379"	"0"	"1379"	"0"	"c.1379del"	"r.(?)"	"p.(Pro460Leufs*81)"	"21"	"frameshift"	""
"0000705481"	"00005455"	"99"	"1379"	"0"	"1379"	"0"	"c.1379dup"	"r.(?)"	"p.(Gly461Trpfs*14)"	"21"	"missense"	""
"0000705482"	"00005455"	"99"	"1380"	"0"	"1380"	"0"	"c.1380del"	"r.(?)"	"p.(Gly461Alafs*80)"	"21"	"frameshift"	""
"0000705483"	"00005455"	"99"	"1380"	"0"	"1380"	"0"	"c.1380del"	"r.(?)"	"p.(Gly461Alafs*80)"	"21"	"frameshift"	""
"0000705484"	"00005455"	"95"	"1380"	"0"	"1380"	"0"	"c.1380del"	"r.?"	"p.(Gly461Alafs*80)"	"21"	"frameshift"	""
"0000705485"	"00005455"	"99"	"1380"	"0"	"1380"	"0"	"c.1380dup"	"r.(?)"	"p.(Gly461Trpfs*14)"	"21"	"frameshift"	""
"0000705486"	"00005455"	"99"	"1381"	"0"	"1381"	"0"	"c.1381G>A"	"r.(?)"	"p.(Gly461Ser)"	"21"	"missense"	"Gly283Ser"
"0000705487"	"00005455"	"99"	"1390"	"0"	"1390"	"0"	"c.1390G>A"	"r.(?)"	"p.(Gly464Arg)"	"21"	"missense"	"Gly286Arg"
"0000705488"	"00005455"	"95"	"1390"	"0"	"1390"	"0"	"c.1390G>A"	"r.?"	"p.(Gly464Arg)"	"21"	"missense"	"Gly286Arg"
"0000705489"	"00005455"	"99"	"1391"	"0"	"1391"	"0"	"c.1391G>A"	"r.(?)"	"p.(Gly464Glu)"	"21"	"missense"	"Gly286Glu"
"0000705490"	"00005455"	"99"	"1391"	"0"	"1391"	"0"	"c.1391G>A"	"r.(?)"	"p.(Gly464Glu)"	"21"	"missense"	"Gly286Glu"
"0000705491"	"00005455"	"99"	"1391"	"0"	"1391"	"0"	"c.1391G>A"	"r.(?)"	"p.(Gly464Glu)"	"21"	"missense"	"Gly286Glu"
"0000705492"	"00005455"	"99"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	"21"	"nonsense"	"Arg291Stop"
"0000705493"	"00005455"	"99"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	"21"	"nonsense"	"Arg291Stop"
"0000705494"	"00005455"	"99"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	"21"	"nonsense"	"Arg291Stop"
"0000705495"	"00005455"	"99"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	"21"	"nonsense"	"Arg291Stop"
"0000705496"	"00005455"	"99"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	"21"	"nonsense"	"Arg291Stop"
"0000705497"	"00005455"	"95"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.?"	"p.(Arg469*)"	"21"	"nonsense"	"Arg291Stop"
"0000705498"	"00005455"	"99"	"1409"	"0"	"1409"	"0"	"c.1409G>C"	"r.(?)"	"p.(Gly470Ala)"	"21"	"missense"	""
"0000705499"	"00005455"	"99"	"1409"	"0"	"1409"	"0"	"c.1409G>T"	"r.(?)"	"p.(Gly470Val)"	"21"	"missense"	"Gly292Val"
"0000705500"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705501"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705502"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705503"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705504"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705505"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705506"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705507"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705508"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705509"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705510"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705511"	"00005455"	"99"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472*)"	"21"	"nonsense"	"Arg294Stop"
"0000705512"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705513"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705514"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705515"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705516"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705517"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705518"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>C"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705519"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>C"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705520"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>C"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705521"	"00005455"	"99"	"1426"	"0"	"1426"	"0"	"c.1426G>C"	"r.(?)"	"p.(Gly476Arg)"	"21"	"missense"	"Gly298Arg"
"0000705522"	"00005455"	"95"	"1426"	"0"	"1426"	"0"	"c.1426G>T"	"r.(?)"	"p.(Gly476*)"	"21"	"nonsense"	""
"0000705523"	"00005455"	"99"	"1444"	"0"	"1444"	"0"	"c.1444G>A"	"r.(?)"	"p.(Gly482Arg)"	"21"	"missense"	"Gly304Arg"
"0000705524"	"00005455"	"99"	"1444"	"0"	"1444"	"0"	"c.1444G>A"	"r.(?)"	"p.(Gly482Arg)"	"21"	"missense"	"Gly304Arg"
"0000705525"	"00005455"	"99"	"1445"	"0"	"1445"	"0"	"c.1445G>C"	"r.(?)"	"p.(Gly482Ala)"	"21"	"missense"	"Gly304Ala"
"0000705526"	"00005455"	"95"	"1451"	"0"	"1451"	"0"	"c.1451del"	"r.?"	"p.(Pro484Leufs*57)"	"21"	"frameshift"	""
"0000705527"	"00005455"	"99"	"1452"	"0"	"1452"	"0"	"c.1452del"	"r.(?)"	"p.(Gly485Alafs*56)"	"21"	"frameshift"	""
"0000705528"	"00005455"	"99"	"1461"	"1"	"1461"	"1"	"c.1461+1G>A"	"r.spl?"	"p.?"	"21i"	"splicing affected?"	""
"0000705529"	"00005455"	"95"	"1461"	"1"	"1461"	"1"	"c.1461+1G>A"	"r.?"	"-"	"21i"	"splicing affected?"	""
"0000705530"	"00005455"	"99"	"1461"	"1"	"1461"	"1"	"c.1461+1G>C"	"r.spl?"	"p.?"	"21i"	"splicing affected?"	""
"0000705531"	"00005455"	"99"	"1461"	"1"	"1461"	"1"	"c.1461+1G>C"	"r.spl?"	"p.?"	"21i"	"splicing affected?"	""
"0000705532"	"00005455"	"99"	"1462"	"-2"	"1462"	"-2"	"c.1462-2A>G"	"r.spl?"	"p.?"	"21i"	"splicing affected?"	""
"0000705533"	"00005455"	"99"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Gly491Ser)"	"22"	"missense"	"Gly313Ser"
"0000705534"	"00005455"	"99"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Gly491Ser)"	"22"	"missense"	"Gly313Ser"
"0000705535"	"00005455"	"99"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Gly491Ser)"	"22"	"missense"	"Gly313Ser"
"0000705536"	"00005455"	"99"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Gly491Ser)"	"22"	"missense"	"Gly313Ser"
"0000705537"	"00005455"	"99"	"1471"	"0"	"1471"	"0"	"c.1471G>T"	"r.(?)"	"p.(Gly491Cys)"	"22"	"missense"	"Gly313Cys"
"0000705538"	"00005455"	"99"	"1486"	"0"	"1487"	"0"	"c.1486_1487del"	"r.(?)"	"p.(Pro496Trpfs*14)"	"22"	"frameshift"	""
"0000705539"	"00005455"	"99"	"1497"	"0"	"1498"	"0"	"c.1497_1498dup"	"r.(?)"	"p.(Gly500Valfs*42)"	"22"	"frameshift"	""
"0000705540"	"00005455"	"99"	"1503"	"0"	"1503"	"0"	"c.1503del"	"r.?"	"p.(Ala502Leufs*39)"	"22"	"frameshift"	""
"0000705541"	"00005455"	"99"	"1503"	"0"	"1503"	"0"	"c.1503del"	"r.?"	"p.(Ala502Leufs*39)"	"22"	"frameshift"	""
"0000705542"	"00005455"	"99"	"1503"	"0"	"1503"	"0"	"c.1503del"	"r.?"	"p.(Ala502Leufs*39)"	"22"	"frameshift"	""
"0000705543"	"00005455"	"99"	"1507"	"0"	"1507"	"0"	"c.1507G>T"	"r.(?)"	"p.(Gly503Cys)"	"22"	"missense"	"Gly325Cys"
"0000705544"	"00005455"	"99"	"1515"	"3"	"1515"	"3"	"c.1515+3A>G"	"r.spl?"	"p.?"	"22i"	"splicing affected?"	""
"0000705545"	"00005455"	"99"	"1515"	"3"	"1515"	"3"	"c.1515+3A>G"	"r.spl?"	"p.?"	"22i"	"splicing affected?"	""
"0000705546"	"00005455"	"99"	"1516"	"-44"	"1767"	"100"	"c.1516-44_1767+100del"	"r.?"	"p.(Gly507_Ala590del)"	"22i_25i"	"deletion, multi exon"	""
"0000705547"	"00005455"	"99"	"1516"	"-1"	"1516"	"-1"	"c.1516-1G>T"	"r.spl?"	"p.?"	"22i"	"splicing affected?"	""
"0000705548"	"00005455"	"93"	"1522"	"0"	"1522"	"0"	"c.1522G>A"	"r.?"	"p.(Ala508Thr)"	"23"	"missense"	"Ala330Thr"
"0000705549"	"00005455"	"99"	"1526"	"0"	"1526"	"0"	"c.1526G>T"	"r.(?)"	"p.(Gly509Val)"	"23"	"missense"	"Gly331Val"
"0000705550"	"00005455"	"51"	"1548"	"0"	"1548"	"0"	"c.1548T>C"	"r.(?)"	"p.(=)"	"23"	"silent"	""
"0000705551"	"00005455"	"99"	"1562"	"0"	"1562"	"0"	"c.1562G>A"	"r.(?)"	"p.(Gly521Glu)"	"23"	"missense"	"Gly343Glu"
"0000705552"	"00005455"	"99"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Glu525Lysfs*16)"	"23"	"frameshift"	""
"0000705553"	"00005455"	"99"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Glu525Lysfs*16)"	"23"	"frameshift"	""
"0000705554"	"00005455"	"99"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Glu525Lysfs*16)"	"23"	"frameshift"	""
"0000705555"	"00005455"	"99"	"1579"	"0"	"1579"	"0"	"c.1579G>T"	"r.(?)"	"p.(Gly527Cys)"	"23"	"missense"	"Gly349Cys"
"0000705556"	"00005455"	"99"	"1579"	"0"	"1579"	"0"	"c.1579G>T"	"r.(?)"	"p.(Gly527Cys)"	"23"	"missense"	"Gly349Cys"
"0000705557"	"00005455"	"99"	"1579"	"0"	"1579"	"0"	"c.1579G>T"	"r.(?)"	"p.(Gly527Cys)"	"23"	"missense"	"Gly349Cys"
"0000705558"	"00005455"	"99"	"1580"	"0"	"1580"	"0"	"c.1580G>A"	"r.(?)"	"p.(Gly527Asp)"	"23"	"missense"	"Gly349Asp"
"0000705559"	"00005455"	"99"	"1580"	"0"	"1580"	"0"	"c.1580G>C"	"r.(?)"	"p.(Gly527Ala)"	"23"	"missense"	"Gly349Ala"
"0000705560"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705561"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705562"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705563"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705564"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705565"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705566"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705567"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705568"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705569"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705570"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705571"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705572"	"00005455"	"95"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.?"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705573"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705574"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.?"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705575"	"00005455"	"95"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	"missense"	"Gly352Ser"
"0000705576"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>T"	"r.(?)"	"p.(Gly530Cys)"	"23"	"missense"	"Gly352Cys"
"0000705577"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>T"	"r.(?)"	"p.(Gly530Cys)"	"23"	"missense"	"Gly352Cys"
"0000705578"	"00005455"	"99"	"1588"	"0"	"1588"	"0"	"c.1588G>T"	"r.(?)"	"p.(Gly530Cys)"	"23"	"missense"	"Gly352Cys"
"0000705579"	"00005455"	"99"	"1597"	"0"	"1597"	"0"	"c.1597G>T"	"r.(?)"	"p.(Gly533Cys)"	"23"	"missense"	"Gly355Cys"
"0000705580"	"00005455"	"99"	"1598"	"0"	"1598"	"0"	"c.1598G>A"	"r.(?)"	"p.(Gly533Asp)"	"23"	"missense"	"Gly355Asp"
"0000705581"	"00005455"	"99"	"1598"	"0"	"1598"	"0"	"c.1598G>C"	"r.(?)"	"p.(Gly533Ala)"	"23"	"missense"	"Gly355Ala"
"0000705582"	"00005455"	"57"	"1601"	"0"	"1601"	"0"	"c.1601T>A"	"r.(?)"	"p.(Leu534Gln)"	"23"	"missense"	""
"0000705583"	"00005455"	"99"	"1606"	"0"	"1606"	"0"	"c.1606G>C"	"r.(?)"	"p.(Gly536Arg)"	"23"	"missense"	"Gly358Arg"
"0000705584"	"00005455"	"99"	"1608"	"0"	"1608"	"0"	"c.1608del"	"r.(?)"	"p.(Ala537Profs*4)"	"23"	"frameshift"	""
"0000705585"	"00005455"	"99"	"1608"	"0"	"1614"	"25"	"c.1608_1614+25del"	"r.spl?"	"p.?"	"23_23i"	"splicing affected?"	""
"0000705586"	"00005455"	"99"	"1611"	"0"	"1611"	"0"	"c.1611del"	"r.(?)"	"p.(Lys538Argfs*3)"	"23"	"frameshift"	""
"0000705587"	"00005455"	"99"	"1611"	"0"	"1611"	"0"	"c.1611del"	"r.(?)"	"p.(Lys538Argfs*3)"	"23"	"frameshift"	""
"0000705588"	"00005455"	"99"	"1613"	"0"	"1613"	"0"	"c.1613del"	"r.(?)"	"p.(Lys538Argfs*3)"	"23"	"frameshift"	""
"0000705589"	"00005455"	"99"	"1614"	"1"	"1614"	"1"	"c.1614+1G>A"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705590"	"00005455"	"99"	"1614"	"1"	"1614"	"1"	"c.1614+1G>A"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705591"	"00005455"	"99"	"1614"	"1"	"1614"	"1"	"c.1614+1G>A"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705592"	"00005455"	"95"	"1614"	"1"	"1614"	"1"	"c.1614+1G>A"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705593"	"00005455"	"99"	"1614"	"2"	"1614"	"3"	"c.1614+2_1614+3delinsC"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705594"	"00005455"	"99"	"1615"	"-1"	"1615"	"-1"	"c.1615-1G>T"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705595"	"00005455"	"97"	"1615"	"-4"	"1615"	"-4"	"c.1615-4C>A"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705596"	"00005455"	"93"	"1615"	"-4"	"1615"	"-4"	"c.1615-4C>A"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705597"	"00005455"	"99"	"1615"	"-1"	"1615"	"-1"	"c.1615-1G>C"	"r.spl?"	"p.?"	"23i"	"splicing affected?"	""
"0000705598"	"00005455"	"59"	"1626"	"0"	"1634"	"0"	"c.1626_1634del"	"r.(?)"	"p.(Ser546_Gly548del)"	"24"	"deletion"	""
"0000705599"	"00005455"	"99"	"1631"	"0"	"1631"	"0"	"c.1631del"	"r.(?)"	"p.(Pro544Leufs*36)"	"24"	"frameshift"	""
"0000705600"	"00005455"	"99"	"1634"	"0"	"1634"	"0"	"c.1634G>A"	"r.(?)"	"p.(Gly545Asp)"	"24"	"missense"	"Gly367Asp"
"0000705601"	"00005455"	"99"	"1643"	"0"	"1643"	"0"	"c.1643G>C"	"r.(?)"	"p.(Gly548Ala)"	"24"	"missense"	"Gly370Ala"
"0000705602"	"00005455"	"99"	"1661"	"0"	"1661"	"0"	"c.1661G>C"	"r.(?)"	"p.(Gly554Ala)"	"24"	"missense"	"Gly376Ala"
"0000705603"	"00005455"	"99"	"1664"	"0"	"1664"	"0"	"c.1664C>G"	"r.(?)"	"p.(Pro555Arg)"	"24"	"missense"	"Pro377Arg"
"0000705604"	"00005455"	"99"	"1667"	"0"	"1667"	"0"	"c.1667del"	"r.(?)"	"p.(Pro556Leufs*24)"	"24"	"frameshift"	""
"0000705605"	"00005455"	"99"	"1667"	"0"	"1667"	"0"	"c.1667del"	"r.(?)"	"p.(Pro556Leufs*24)"	"24"	"frameshift"	""
"0000705606"	"00005455"	"99"	"1667"	"0"	"1667"	"0"	"c.1667del"	"r.(?)"	"p.(Pro556Leufs*24)"	"24"	"frameshift"	""
"0000705607"	"00005455"	"99"	"1667"	"0"	"1667"	"0"	"c.1667dup"	"r.(?)"	"p.(Gly557Trpfs*30)"	"24"	"frameshift"	""
"0000705608"	"00005455"	"99"	"1667"	"0"	"1667"	"0"	"c.1667dup"	"r.(?)"	"p.(Gly557Trpfs*30)"	"24"	"frameshift"	""
"0000705609"	"00005455"	"99"	"1667"	"0"	"1667"	"0"	"c.1667dup"	"r.(?)"	"p.(Gly557Trpfs*30)"	"24"	"frameshift"	""
"0000705610"	"00005455"	"99"	"1668"	"0"	"1668"	"0"	"c.1668del"	"r.(?)"	"p.(Gly557Valfs*23)"	"24"	"frameshift"	""
"0000705611"	"00005455"	"99"	"1668"	"0"	"1668"	"0"	"c.1668del"	"r.(?)"	"p.(Gly557Valfs*23)"	"24"	"frameshift"	""
"0000705612"	"00005455"	"99"	"1669"	"-2"	"1669"	"-2"	"c.1669-2A>G"	"r.spl?"	"p.?"	"24i"	"splicing affected?"	""
"0000705613"	"00005455"	"99"	"1669"	"-1"	"1669"	"-1"	"c.1669-1G>C"	"r.spl?"	"p.?"	"24i"	"splicing affected?"	""
"0000705614"	"00005455"	"99"	"1675"	"0"	"1675"	"0"	"c.1675del"	"r.(?)"	"p.(Ala559Profs*21)"	"25"	"frameshift"	""
"0000705615"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705616"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705617"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705618"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705619"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705620"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705621"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705622"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705623"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705624"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705625"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705626"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705627"	"00005455"	"79"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705628"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705629"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705630"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705631"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705632"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705633"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705634"	"00005455"	"95"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.?"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705635"	"00005455"	"95"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.?"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705636"	"00005455"	"95"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.?"	"p.(Gly560Ser)"	"25"	"missense"	"Gly382Ser"
"0000705637"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>C"	"r.(?)"	"p.(Gly560Arg)"	"25"	"missense"	"Gly382Arg"
"0000705638"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>T"	"r.(?)"	"p.(Gly560Cys)"	"25"	"missense"	"Gly382Cys"
"0000705639"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>T"	"r.(?)"	"p.(Gly560Cys)"	"25"	"missense"	"Gly382Cys"
"0000705640"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>T"	"r.(?)"	"p.(Gly560Cys)"	"25"	"missense"	"Gly382Cys"
"0000705641"	"00005455"	"99"	"1678"	"0"	"1678"	"0"	"c.1678G>T"	"r.?"	"p.(Gly560Cys)"	"25"	"missense"	"Gly382Cys"
"0000705642"	"00005455"	"99"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705643"	"00005455"	"99"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705644"	"00005455"	"99"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705645"	"00005455"	"99"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705646"	"00005455"	"59"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705647"	"00005455"	"99"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705648"	"00005455"	"99"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705649"	"00005455"	"99"	"1696"	"0"	"1696"	"0"	"c.1696G>C"	"r.(?)"	"p.(Gly566Arg)"	"25"	"missense"	"Gly388Arg"
"0000705650"	"00005455"	"99"	"1705"	"0"	"1705"	"0"	"c.1705G>C"	"r.(?)"	"p.(Gly569Arg)"	"25"	"missense"	"Gly391Arg"
"0000705651"	"00005455"	"99"	"1706"	"0"	"1706"	"0"	"c.1706G>A"	"r.(?)"	"p.(Gly569Asp)"	"25"	"missense"	"Gly391Asp"
"0000705652"	"00005455"	"99"	"1714"	"0"	"1714"	"0"	"c.1714G>C"	"r.(?)"	"p.(Gly572Arg)"	"25"	"missense"	"Gly394Arg"
"0000705653"	"00005455"	"99"	"1719"	"0"	"1720"	"0"	"c.1719_1720insAC"	"r.(?)"	"p.(Arg574Thrfs*7)"	"25"	"frameshift"	""
"0000705654"	"00005455"	"99"	"1719"	"0"	"1720"	"0"	"c.1719_1720insAC"	"r.(?)"	"p.(Arg574Thrfs*7)"	"25"	"frameshift"	""
"0000705655"	"00005455"	"99"	"1719"	"0"	"1720"	"0"	"c.1719_1720insAC"	"r.(?)"	"p.(Arg574Thrfs*7)"	"25"	"frameshift"	""
"0000705656"	"00005455"	"99"	"1719"	"0"	"1720"	"0"	"c.1719_1720insAC"	"r.(?)"	"p.(Arg574Thrfs*7)"	"25"	"frameshift"	""
"0000705657"	"00005455"	"99"	"1720"	"0"	"1720"	"0"	"c.1720C>T"	"r.(?)"	"p.(Arg574Cys)"	"25"	"missense"	"Arg396Cys"
"0000705658"	"00005455"	"99"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Gly576*)"	"25"	"nonsense"	"Gly398Stop"
"0000705659"	"00005455"	"99"	"1732"	"0"	"1732"	"0"	"c.1732G>A"	"r.(?)"	"p.(Gly578Ser)"	"25"	"missense"	"Gly400Ser"
"0000705660"	"00005455"	"99"	"1741"	"0"	"1741"	"0"	"c.1741G>A"	"r.(?)"	"p.(Gly581Arg)"	"25"	"missense"	"Gly403Arg"
"0000705661"	"00005455"	"99"	"1759"	"0"	"1759"	"0"	"c.1759G>A"	"r.(?)"	"p.(Gly587Ser)"	"25"	"missense"	"Gly409Ser"
"0000705662"	"00005455"	"99"	"1760"	"0"	"1760"	"0"	"c.1760G>C"	"r.(?)"	"p.(Gly587Ala)"	"25"	"missense"	"Gly409Ala"
"0000705663"	"00005455"	"99"	"1767"	"0"	"1767"	"1"	"c.1767_1767+1insCACAGGTCAAGCT"	"r.spl?"	"p.?"	"25i"	"splicing affected?"	""
"0000705664"	"00005455"	"99"	"1767"	"5"	"1767"	"5"	"c.1767+5G>A"	"r.spl?"	"p.?"	"25i"	"splicing affected?"	""
"0000705665"	"00005455"	"99"	"1767"	"5"	"1767"	"5"	"c.1767+5G>A"	"r.spl?"	"p.?"	"25i"	"splicing affected?"	""
"0000705666"	"00005455"	"99"	"1767"	"5"	"1767"	"5"	"c.1767+5G>C"	"r.spl?"	"p.?"	"25i"	"splicing affected?"	""
"0000705667"	"00005455"	"99"	"1768"	"-1"	"1768"	"-1"	"c.1768-1G>A"	"r.spl?"	"p.?"	"25i"	"splicing affected?"	""
"0000705668"	"00005455"	"99"	"1768"	"-1"	"1768"	"-1"	"c.1768-1G>A"	"r.spl?"	"p.?"	"25i"	"splicing affected?"	""
"0000705669"	"00005455"	"99"	"1768"	"-1"	"1768"	"-1"	"c.1768-1G>A"	"r.spl?"	"p.?"	"25i"	"splicing affected?"	""
"0000705670"	"00005455"	"95"	"1771"	"0"	"1771"	"0"	"c.1771G>T"	"r.?"	"p.(Glu591*)"	"26"	"nonsense"	"Glu413Stop"
"0000705671"	"00005455"	"99"	"1777"	"0"	"1777"	"0"	"c.1777G>A"	"r.(?)"	"p.(Gly593Ser)"	"26"	"missense"	"Gly415Ser"
"0000705672"	"00005455"	"99"	"1777"	"0"	"1777"	"0"	"c.1777G>A"	"r.(?)"	"p.(Gly593Ser)"	"26"	"missense"	"Gly415Ser"
"0000705673"	"00005455"	"99"	"1777"	"0"	"1777"	"0"	"c.1777G>A"	"r.(?)"	"p.(Gly593Ser)"	"26"	"missense"	"Gly415Ser"
"0000705674"	"00005455"	"99"	"1777"	"0"	"1777"	"0"	"c.1777G>C"	"r.?"	"p.(Gly593Arg)"	"26"	"missense"	"Gly415Arg"
"0000705675"	"00005455"	"59"	"1777"	"0"	"1777"	"0"	"c.1777G>C"	"r.?"	"p.(Gly593Arg)"	"26"	"missense"	"Gly415Arg"
"0000705676"	"00005455"	"99"	"1777"	"0"	"1777"	"0"	"c.1777G>T"	"r.(?)"	"p.(Gly593Cys)"	"26"	"missense"	"Gly415Cys"
"0000705677"	"00005455"	"99"	"1777"	"0"	"1777"	"0"	"c.1777G>T"	"r.(?)"	"p.(Gly593Cys)"	"26"	"missense"	"Gly415Cys"
"0000705678"	"00005455"	"99"	"1778"	"0"	"1778"	"0"	"c.1778G>A"	"r.(?)"	"p.(Gly593Asp)"	"26"	"missense"	"Gly415Asp"
"0000705679"	"00005455"	"99"	"1778"	"0"	"1778"	"0"	"c.1778G>T"	"r.(?)"	"p.(Gly593Val)"	"26"	"missense"	"Gly415Val"
"0000705680"	"00005455"	"99"	"1787"	"0"	"1787"	"0"	"c.1787del"	"r.(?)"	"p.(Gly586Glufs*170)"	"26"	"frameshift"	""
"0000705681"	"00005455"	"99"	"1787"	"0"	"1787"	"0"	"c.1787G>C"	"r.?"	"p.(Gly596Ala)"	"26"	"missense"	"Gly418Ala"
"0000705682"	"00005455"	"99"	"1789"	"0"	"1789"	"0"	"c.1789G>T"	"r.(?)"	"p.(Glu597*)"	"26"	"nonsense"	"Glu419Stop"
"0000705683"	"00005455"	"95"	"1789"	"0"	"1789"	"0"	"c.1789G>T"	"r.(?)"	"p.(Glu597*)"	"26"	"nonsense"	"Glu419Stop"
"0000705684"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	"nonsense"	"Arg420Stop"
"0000705685"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	"nonsense"	"Arg420Stop"
"0000705686"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	"nonsense"	"Arg420Stop"
"0000705687"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	"nonsense"	"Arg420Stop"
"0000705688"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	"nonsense"	"Arg420Stop"
"0000705689"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	"nonsense"	"Arg420Stop"
"0000705690"	"00005455"	"99"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598*)"	"26"	"nonsense"	"Arg420Stop"
"0000705691"	"00005455"	"99"	"1800"	"0"	"1800"	"0"	"c.1800del"	"r.(?)"	"p.(Gly602Aspfs*164)"	"26"	"frameshift"	""
"0000705692"	"00005455"	"11"	"1803"	"0"	"1803"	"0"	"c.1803C>T"	"r.(?)"	"p.(=)"	"26"	"silent"	""
"0000705693"	"00005455"	"99"	"1804"	"0"	"1804"	"0"	"c.1804G>A"	"r.(?)"	"p.(Gly602Arg)"	"26"	"missense"	"Gly424Arg"
"0000705694"	"00005455"	"99"	"1804"	"0"	"1804"	"0"	"c.1804G>A"	"r.(?)"	"p.(Gly602Arg)"	"26"	"missense"	"Gly424Arg"
"0000705695"	"00005455"	"99"	"1804"	"0"	"1804"	"0"	"c.1804G>A"	"r.(?)"	"p.(Gly602Arg)"	"26"	"missense"	"Gly424Arg"
"0000705696"	"00005455"	"99"	"1804"	"0"	"1804"	"0"	"c.1804G>A"	"r.(?)"	"p.(Gly602Arg)"	"26"	"missense"	"Gly424Arg"
"0000705697"	"00005455"	"99"	"1804"	"0"	"1804"	"0"	"c.1804G>A"	"r.(?)"	"p.(Gly602Arg)"	"26"	"missense"	"Gly424Arg"
"0000705698"	"00005455"	"99"	"1804"	"0"	"1804"	"0"	"c.1804G>T"	"r.(?)"	"p.(Gly602*)"	"26"	"nonsense"	"Gly424Stop"
"0000705699"	"00005455"	"99"	"1804"	"0"	"1804"	"0"	"c.1804G>T"	"r.(?)"	"p.(Gly602*)"	"26"	"nonsense"	"Gly424Stop"
"0000705700"	"00005455"	"99"	"1812"	"0"	"1812"	"0"	"c.1812del"	"r.(?)"	"p.(Gly605Alafs*161)"	"26"	"frameshift"	""
"0000705701"	"00005455"	"99"	"1812"	"0"	"1812"	"0"	"c.1812del"	"r.(?)"	"p.(Gly605Alafs*161)"	"26"	"frameshift"	""
"0000705702"	"00005455"	"99"	"1812"	"0"	"1812"	"0"	"c.1812del"	"r.(?)"	"p.(Gly605Alafs*161)"	"26"	"frameshift"	""
"0000705703"	"00005455"	"99"	"1814"	"0"	"1814"	"0"	"c.1814del"	"r.(?)"	"p.(Gly605AlafsX161)"	"26"	"frameshift"	""
"0000705704"	"00005455"	"99"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Gly605Asp)"	"26"	"missense"	"Gly427Asp"
"0000705705"	"00005455"	"99"	"1816"	"0"	"1816"	"0"	"c.1816del"	"r.(?)"	"p.(Ala606Leufs*160)"	"26"	"frameshift"	""
"0000705706"	"00005455"	"11"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.(?)"	"p.(=)"	"26"	"silent"	""
"0000705707"	"00005455"	"51"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.(?)"	"p.(=)"	"26"	"silent"	""
"0000705708"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705709"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705710"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705711"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705712"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705713"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705714"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705715"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705716"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705717"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705718"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705719"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705720"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705721"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705722"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705723"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705724"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705725"	"00005455"	"95"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.?"	"-"	"26i"	"splicing affected?"	""
"0000705726"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705727"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.?"	"-"	"26i"	"splicing affected?"	""
"0000705728"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>T"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705729"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>T"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705730"	"00005455"	"99"	"1821"	"4"	"1821"	"7"	"c.1821+4_1821+7del"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705731"	"00005455"	"99"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>C"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705732"	"00005455"	"99"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>C"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705733"	"00005455"	"99"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>G"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705734"	"00005455"	"99"	"1822"	"-1"	"1822"	"-1"	"c.1822-1G>A"	"r.spl?"	"p.?"	"26i"	"splicing affected?"	""
"0000705735"	"00005455"	"95"	"1840"	"0"	"1840"	"0"	"c.1840G>A"	"r.?"	"p.(Gly614Arg)"	"27"	"missense"	"Gly436Arg"
"0000705736"	"00005455"	"99"	"1840"	"0"	"1840"	"0"	"c.1840G>C"	"r.(?)"	"p.(Gly614Arg)"	"27"	"missense"	"Gly436Arg"
"0000705737"	"00005455"	"99"	"1845"	"0"	"1847"	"0"	"c.1845_1847del"	"r.(?)"	"p.(Glu615_Ala616delinsAsp)"	"27"	"delins"	""
"0000705738"	"00005455"	"99"	"1849"	"0"	"1849"	"0"	"c.1849G>A"	"r.(?)"	"p.(Gly617Arg)"	"27"	"missense"	"Gly439Arg"
"0000705739"	"00005455"	"99"	"1865"	"0"	"1865"	"0"	"c.1865del"	"r.(?)"	"p.(Pro622Leufs*144)"	"27"	"frameshift"	""
"0000705740"	"00005455"	"99"	"1865"	"0"	"1865"	"0"	"c.1865del"	"r.(?)"	"p.(Pro622Leufs*144)"	"27"	"frameshift"	""
"0000705741"	"00005455"	"99"	"1866"	"0"	"1866"	"0"	"c.1866del"	"r.(?)"	"p.(Gly623Alafs*143)"	"27"	"frameshift"	""
"0000705742"	"00005455"	"79"	"1866"	"0"	"1866"	"0"	"c.1866del"	"r.(?)"	"p.(Gly623Alafs*143)"	"27"	"frameshift"	""
"0000705743"	"00005455"	"99"	"1866"	"0"	"1866"	"0"	"c.1866del"	"r.?"	"p.(Gly623Alafs*143)"	"27"	"frameshift"	""
"0000705744"	"00005455"	"99"	"1875"	"1"	"1875"	"1"	"c.1875+1G>A"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705745"	"00005455"	"99"	"1875"	"1"	"1875"	"1"	"c.1875+1G>A"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705746"	"00005455"	"99"	"1875"	"1"	"1875"	"1"	"c.1875+1G>A"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705747"	"00005455"	"99"	"1875"	"1"	"1875"	"1"	"c.1875+1G>A"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705748"	"00005455"	"99"	"1875"	"1"	"1875"	"1"	"c.1875+1G>C"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705749"	"00005455"	"99"	"1875"	"1"	"1875"	"1"	"c.1875+1G>C"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705750"	"00005455"	"99"	"1875"	"3"	"1875"	"3"	"c.1875+3G>T"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705751"	"00005455"	"99"	"1876"	"-2"	"1876"	"-2"	"c.1876-2A>G"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705752"	"00005455"	"99"	"1876"	"-2"	"1876"	"-2"	"c.1876-2A>G"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705753"	"00005455"	"99"	"1876"	"-2"	"1876"	"-2"	"c.1876-2del"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705754"	"00005455"	"99"	"1876"	"-2"	"1876"	"-1"	"c.1876-2_1876-1inv"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705755"	"00005455"	"99"	"1876"	"-1"	"1876"	"-1"	"c.1876-1G>C"	"r.spl?"	"p.?"	"27i"	"splicing affected?"	""
"0000705756"	"00005455"	"99"	"1876"	"0"	"1876"	"0"	"c.1876G>A"	"r.(?)"	"p.(Gly626Ser)"	"28"	"missense"	"Gly448Ser"
"0000705757"	"00005455"	"99"	"1876"	"0"	"1876"	"0"	"c.1876G>A"	"r.(?)"	"p.(Gly626Ser)"	"28"	"missense"	"Gly448Ser"
"0000705758"	"00005455"	"99"	"1876"	"0"	"1876"	"0"	"c.1876G>A"	"r.(?)"	"p.(Gly626Ser)"	"28"	"missense"	"Gly448Ser"
"0000705759"	"00005455"	"99"	"1876"	"0"	"1876"	"0"	"c.1876G>T"	"r.(?)"	"p.(Gly626Cys)"	"28"	"missense"	"Gly448Cys"
"0000705760"	"00005455"	"99"	"1876"	"0"	"1876"	"0"	"c.1876G>T"	"r.(?)"	"p.(Gly626Cys)"	"28"	"missense"	"Gly448Cys"
"0000705761"	"00005455"	"99"	"1876"	"0"	"1876"	"0"	"c.1876G>T"	"r.(?)"	"p.(Gly626Cys)"	"28"	"missense"	"Gly448Cys"
"0000705762"	"00005455"	"99"	"1885"	"0"	"1885"	"0"	"c.1885G>A"	"r.(?)"	"p.(Gly629Ser)"	"28"	"missense"	"Gly451Ser"
"0000705763"	"00005455"	"99"	"1885"	"0"	"1885"	"0"	"c.1885G>A"	"r.(?)"	"p.(Gly629Ser)"	"28"	"missense"	"Gly451Ser"
"0000705764"	"00005455"	"99"	"1886"	"0"	"1886"	"0"	"c.1886del"	"r.(?)"	"p.(Gly629Alafs*137)"	"28"	"frameshift"	""
"0000705765"	"00005455"	"99"	"1893"	"0"	"1894"	"0"	"c.1893_1894del"	"r.(?)"	"p.(Gly632*)"	"28"	"frameshift"	""
"0000705766"	"00005455"	"99"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Gly632Ser)"	"28"	"missense"	"Gly454Ser"
"0000705767"	"00005455"	"99"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Gly632Ser)"	"28"	"missense"	"Gly454Ser"
"0000705768"	"00005455"	"99"	"1896"	"0"	"1897"	"0"	"c.1896_1897del"	"r.(?)"	"p.(Glu633Thrfs*21)"	"28"	"frameshift"	""
"0000705769"	"00005455"	"99"	"1897"	"0"	"1897"	"0"	"c.1897G>T"	"r.(?)"	"p.(Glu633*)"	"28"	"nonsense"	":p.(Glu455*)"
"0000705770"	"00005455"	"99"	"1900"	"0"	"1900"	"0"	"c.1900C>T"	"r.(?)"	"p.(Glu634*)"	"28"	"nonsense"	""
"0000705771"	"00005455"	"99"	"1903"	"0"	"1903"	"0"	"c.1903G>A"	"r.(?)"	"p.(Gly635Ser)"	"28"	"missense"	"Gly457Ser"
"0000705772"	"00005455"	"99"	"1913"	"0"	"1913"	"0"	"c.1913G>C"	"r.(?)"	"p.(Gly638Ala)"	"28"	"missense"	"Gly460Ala"
"0000705773"	"00005455"	"99"	"1913"	"0"	"1913"	"0"	"c.1913G>C"	"r.(?)"	"p.(Gly638Ala)"	"28"	"missense"	"Gly460Ala"
"0000705774"	"00005455"	"99"	"1913"	"0"	"1913"	"0"	"c.1913G>T"	"r.(?)"	"p.(Gly638Val)"	"28"	"missense"	"Gly460Val"
"0000705775"	"00005455"	"99"	"1920"	"0"	"1920"	"0"	"c.1920dup"	"r.(?)"	"p.(Gly641Argfs*14)"	"28"	"frameshift"	""
"0000705776"	"00005455"	"99"	"1920"	"0"	"1920"	"0"	"c.1920dup"	"r.(?)"	"p.(Gly641Argfs*14)"	"28"	"frameshift"	""
"0000705777"	"00005455"	"99"	"1927"	"0"	"1927"	"0"	"c.1927C>T"	"r.(?)"	"p.(Gln643*)"	"28"	"nonsense"	"Gln465Stop"
"0000705778"	"00005455"	"99"	"1930"	"-2"	"1930"	"-2"	"c.1930-2A>C"	"r.spl?"	"p.?"	"28i"	"splicing affected?"	""
"0000705779"	"00005455"	"99"	"1930"	"-2"	"1930"	"-2"	"c.1930-2A>C"	"r.?"	"-"	"28i"	"splicing affected?"	""
"0000705780"	"00005455"	"99"	"1930"	"-2"	"1930"	"-2"	"c.1930-2A>G"	"r.spl?"	"p.?"	"28i"	"splicing affected?"	""
"0000705781"	"00005455"	"99"	"1939"	"0"	"1939"	"0"	"c.1939G>A"	"r.(?)"	"p.(Gly647Ser)"	"29"	"missense"	"Gly469Ser"
"0000705782"	"00005455"	"99"	"1944"	"0"	"1944"	"0"	"c.1944del"	"r.(?)"	"p.(Ala649LeufsX117)"	"29"	"frameshift"	""
"0000705783"	"00005455"	"99"	"1948"	"0"	"1948"	"0"	"c.1948G>C"	"r.(?)"	"p.(Gly650Arg)"	"29"	"missense"	"Gly472Arg"
"0000705784"	"00005455"	"99"	"1966"	"0"	"1966"	"0"	"c.1966G>A"	"r.(?)"	"p.(Gly656Ser)"	"29"	"missense"	"Gly478Ser"
"0000705785"	"00005455"	"99"	"1976"	"0"	"1976"	"0"	"c.1976G>C"	"r.(?)"	"p.(Gly659Ala)"	"29"	"missense"	"Gly481Ala"
"0000705786"	"00005455"	"99"	"1981"	"0"	"1981"	"0"	"c.1981C>T"	"r.(?)"	"p.(Gln661*)"	"29"	"nonsense"	"Gln483Stop"
"0000705787"	"00005455"	"99"	"1982"	"0"	"1983"	"0"	"c.1982_1983delinsTT"	"r.(?)"	"p.(Gln661Leu)"	"29"	"missense"	"Gln483Leu"
"0000705788"	"00005455"	"99"	"1983"	"2"	"1983"	"2"	"c.1983+2T>G"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705789"	"00005455"	"99"	"1983"	"138"	"2050"	"0"	"c.1983+138_2050del"	"r.spl?"	"p.?"	"29i_31"	"deletion, multi exon"	""
"0000705790"	"00005455"	"93"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705791"	"00005455"	"33"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705792"	"00005455"	"53"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705793"	"00005455"	"73"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705794"	"00005455"	"33"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705795"	"00005455"	"99"	"1984"	"-5"	"1984"	"-5"	"c.1984-5del"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705796"	"00005455"	"99"	"1984"	"-2"	"1984"	"-2"	"c.1984-2A>C"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705797"	"00005455"	"99"	"1984"	"-2"	"1984"	"-2"	"c.1984-2A>C"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705798"	"00005455"	"99"	"1984"	"-2"	"1984"	"-2"	"c.1984-2A>G"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705799"	"00005455"	"99"	"1984"	"-2"	"1984"	"-2"	"c.1984-2A>G"	"r.spl?"	"p.?"	"29i"	"splicing affected?"	""
"0000705800"	"00005455"	"99"	"1994"	"0"	"1994"	"0"	"c.1994del"	"r.(?)"	"p.(Gly665Glufs*101)"	"30"	"frameshift"	""
"0000705801"	"00005455"	"99"	"2002"	"0"	"2002"	"0"	"c.2002G>A"	"r.(?)"	"p.(Gly668Ser)"	"30"	"missense"	"Gly490Ser"
"0000705802"	"00005455"	"53"	"2005"	"0"	"2005"	"0"	"c.2005G>A"	"r.(?)"	"p.(Ala669Thr)"	"30"	"missense"	"Ala491Thr"
"0000705803"	"00005455"	"93"	"2005"	"0"	"2005"	"0"	"c.2005G>A"	"r.(?)"	"p.(Ala669Thr)"	"30"	"missense"	"Ala491Thr"
"0000705804"	"00005455"	"93"	"2005"	"0"	"2005"	"0"	"c.2005G>A"	"r.(?)"	"p.(Ala669Thr)"	"30"	"missense"	"Ala491Thr"
"0000705805"	"00005455"	"99"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.(?)"	"p.(Gly671Alafs*95)"	"30"	"frameshift"	""
"0000705806"	"00005455"	"99"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.(?)"	"p.(Gly671Alafs*95)"	"30"	"frameshift"	""
"0000705807"	"00005455"	"79"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.(?)"	"p.(Gly671Alafs*95)"	"30"	"frameshift"	""
"0000705808"	"00005455"	"95"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.?"	"p.(Gly671Alafs*95)"	"30"	"frameshift"	""
"0000705809"	"00005455"	"99"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.?"	"p.(Gly671Alafs*95)"	"30"	"frameshift"	"Gly493Alafs*95"
"0000705810"	"00005455"	"99"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.?"	"p.(Gly671Alafs*95)"	"30"	"frameshift"	""
"0000705811"	"00005455"	"99"	"2023"	"0"	"2025"	"0"	"c.2023_2025dup"	"r.(?)"	"p.(Ala675dup)"	"30"	"duplication"	"Ala497dup"
"0000705812"	"00005455"	"99"	"2024"	"0"	"2028"	"1"	"c.2024_2028+1del"	"r.spl?"	"p.?"	"30"	"frameshift"	""
"0000705813"	"00005455"	"99"	"2028"	"1"	"2028"	"1"	"c.2028+1G>A"	"r.spl?"	"p.?"	"30i"	"splicing affected?"	""
"0000705814"	"00005455"	"99"	"2028"	"1"	"2028"	"1"	"c.2028+1G>A"	"r.spl?"	"p.?"	"30"	"splicing affected?"	""
"0000705815"	"00005455"	"99"	"2028"	"2"	"2028"	"2"	"c.2028+2T>G"	"r.spl?"	"p.?"	"30i"	"splicing affected?"	""
"0000705816"	"00005455"	"99"	"2029"	"-1"	"2029"	"-1"	"c.2029-1G>A"	"r.spl?"	"p.?"	"30i"	"splicing affected?"	""
"0000705817"	"00005455"	"99"	"2029"	"-1"	"2029"	"-1"	"c.2029-1G>A"	"r.spl?"	"p.?"	"30i"	"splicing affected?"	""
"0000705818"	"00005455"	"99"	"2037"	"0"	"2038"	"0"	"c.2037_2038del"	"r.(?)"	"p.(Gly680Phefs*29)"	"31"	"frameshift"	""
"0000705819"	"00005455"	"99"	"2037"	"0"	"2038"	"0"	"c.2037_2038del"	"r.(?)"	"p.(Gly680Phefs*29)"	"31"	"frameshift"	""
"0000705820"	"00005455"	"95"	"2037"	"0"	"2038"	"0"	"c.2037_2038del"	"r.?"	"p.(Gly680Phefs*29)"	"31"	"frameshift"	""
"0000705821"	"00005455"	"99"	"2046"	"0"	"2047"	"0"	"c.2046_2047insCTCTCTAG"	"r.(?)"	"p.(Gly683Leufs*86)"	"31"	"frameshift"	""
"0000705822"	"00005455"	"99"	"2047"	"0"	"2047"	"0"	"c.2047G>A"	"r.(?)"	"p.(Gly683Ser)"	"31"	"missense"	"Gly505Ser"
"0000705823"	"00005455"	"99"	"2050"	"0"	"2050"	"0"	"c.2050G>A"	"r.(?)"	"p.(Glu684Lys)"	"31"	"missense"	""
"0000705824"	"00005455"	"99"	"2050"	"0"	"2050"	"0"	"c.2050G>A"	"r.(?)"	"p.(Glu684Lys)"	"31"	"missense"	""
"0000705825"	"00005455"	"99"	"2057"	"0"	"2057"	"0"	"c.2057G>C"	"r.(?)"	"p.(Gly686Ala)"	"31"	"missense"	"Gly508Ala"
"0000705826"	"00005455"	"99"	"2057"	"0"	"2057"	"0"	"c.2057G>T"	"r.(?)"	"p.(Gly686Val)"	"31"	"missense"	"Gly508Val"
"0000705827"	"00005455"	"99"	"2065"	"0"	"2065"	"0"	"c.2065G>A"	"r.(?)"	"p.(Gly689Ser)"	"31"	"missense"	"Gly511Ser"
"0000705828"	"00005455"	"99"	"2066"	"0"	"2066"	"0"	"c.2066G>A"	"r.(?)"	"p.(Gly689Asp)"	"31"	"missense"	"Gly511Asp"
"0000705829"	"00005455"	"35"	"2072"	"0"	"2072"	"0"	"c.2072C>T"	"r.(?)"	"p.(Pro691Leu)"	"31"	"missense"	"Pro513Leu"
"0000705830"	"00005455"	"99"	"2072"	"0"	"2072"	"0"	"c.2072del"	"r.(?)"	"p.(Pro691Leufs*75)"	"31"	"frameshift"	""
"0000705831"	"00005455"	"99"	"2073"	"0"	"2073"	"0"	"c.2073del"	"r.(?)"	"p.(Gly692Valfs*74)"	"31"	"frameshift"	""
"0000705832"	"00005455"	"99"	"2073"	"0"	"2073"	"0"	"c.2073del"	"r.(?)"	"p.(Gly692Valfs*74)"	"31"	"frameshift"	""
"0000705833"	"00005455"	"99"	"2075"	"0"	"2075"	"0"	"c.2075G>C"	"r.(?)"	"p.(Gly692Ala)"	"31"	"missense"	"Gly514Ala"
"0000705834"	"00005455"	"99"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Gly695Ser)"	"31"	"missense"	"Gly517Ser"
"0000705835"	"00005455"	"99"	"2084"	"0"	"2084"	"0"	"c.2084del"	"r.(?)"	"p.(Gly695Valfs*71)"	"31"	"frameshift"	""
"0000705836"	"00005455"	"99"	"2084"	"0"	"2084"	"0"	"c.2084del"	"r.(?)"	"p.(Gly695Valfs*71)"	"31"	"frameshift"	""
"0000705837"	"00005455"	"99"	"2086"	"0"	"2100"	"0"	"c.2086_2100delinsGCTGCAAGGTCCCCAT"	"r.(?)"	"p.(Pro696Alafs*14)"	"31"	"frameshift"	""
"0000705838"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705839"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705840"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705841"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705842"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705843"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705844"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705845"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705846"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.?"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705847"	"00005455"	"95"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.?"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705848"	"00005455"	"95"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.?"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705849"	"00005455"	"95"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.?"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705850"	"00005455"	"99"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697*)"	"31"	"nonsense"	"Arg519Stop"
"0000705851"	"00005455"	"99"	"2091"	"0"	"2092"	"0"	"c.2091_2092del"	"r.(?)"	"p.(Ala699Glnfs*10)"	"31"	"frameshift"	""
"0000705852"	"00005455"	"99"	"2091"	"0"	"2092"	"0"	"c.2091_2092del"	"r.(?)"	"p.(Ala699Glnfs*10)"	"31"	"frameshift"	""
"0000705853"	"00005455"	"99"	"2091"	"0"	"2092"	"0"	"c.2091_2092del"	"r.(?)"	"p.(Ala699Glnfs*10)"	"31"	"frameshift"	""
"0000705854"	"00005455"	"99"	"2097"	"0"	"2097"	"0"	"c.2097del"	"r.(?)"	"p.(Asn700Thrfs*66)"	"31"	"frameshift"	""
"0000705855"	"00005455"	"99"	"2097"	"0"	"2097"	"0"	"c.2097del"	"r.(?)"	"p.(Asn700Thrfs*66)"	"31"	"frameshift"	""
"0000705856"	"00005455"	"99"	"2101"	"0"	"2101"	"0"	"c.2101G>A"	"r.(?)"	"p.(Gly701Ser)"	"31"	"missense"	"Gly523Ser"
"0000705857"	"00005455"	"99"	"2101"	"0"	"2101"	"0"	"c.2101G>A"	"r.(?)"	"p.(Gly701Ser)"	"31"	"missense"	"Gly523Ser"
"0000705858"	"00005455"	"99"	"2101"	"0"	"2101"	"0"	"c.2101G>A"	"r.(?)"	"p.(Gly701Ser)"	"31"	"missense"	"Gly523Ser"
"0000705859"	"00005455"	"99"	"2101"	"0"	"2101"	"0"	"c.2101G>T"	"r.(?)"	"p.(Gly701Cys)"	"31"	"missense"	"Gly523Cys"
"0000705860"	"00005455"	"95"	"2101"	"0"	"2101"	"0"	"c.2101G>T"	"r.(?)"	"p.(Gly701Cys)"	"31"	"missense"	"Gly523Cys"
"0000705861"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Gly704Ser)"	"31"	"missense"	"Gly526Ser"
"0000705862"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Gly704Ser)"	"31"	"missense"	"Gly526Ser"
"0000705863"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Gly704Ser)"	"31"	"missense"	"Gly526Ser"
"0000705864"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Gly704Ser)"	"31"	"missense"	"Gly526Ser"
"0000705865"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Gly704Ser)"	"31"	"missense"	"Gly526Ser"
"0000705866"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	"missense"	"Gly526Cys"
"0000705867"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	"missense"	"Gly526Cys"
"0000705868"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	"missense"	"Gly526Cys"
"0000705869"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	"missense"	"Gly526Cys"
"0000705870"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	"missense"	"Gly526Cys"
"0000705871"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	"missense"	"Gly526Cys"
"0000705872"	"00005455"	"99"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	"missense"	"Gly526Cys"
"0000705873"	"00005455"	"11"	"2115"	"0"	"2115"	"0"	"c.2115C>T"	"r.(?)"	"p.(=)"	"31"	"silent"	""
"0000705874"	"00005455"	"51"	"2115"	"0"	"2115"	"0"	"c.2115C>T"	"r.(?)"	"p.(=)"	"31"	"silent"	""
"0000705875"	"00005455"	"99"	"2120"	"0"	"2120"	"0"	"c.2120del"	"r.(?)"	"p.(Gly707Valfs*59)"	"31"	"frameshift"	""
"0000705876"	"00005455"	"77"	"2127"	"0"	"2127"	"0"	"c.2127G>A"	"r.(?)"	"p.(Lys709=)"	"31"	"splicing affected?"	""
"0000705877"	"00005455"	"95"	"2127"	"1"	"2127"	"1"	"c.2127+1G>C"	"r.?"	"-"	"31i"	"splicing affected?"	""
"0000705878"	"00005455"	"99"	"2127"	"2"	"2127"	"2"	"c.2127+2T>A"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705879"	"00005455"	"99"	"2127"	"2"	"2127"	"2"	"c.2127+2T>G"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705880"	"00005455"	"55"	"2128"	"-14"	"2128"	"-14"	"c.2128-14T>A"	"r.?"	"-"	"31i"	"splicing affected?"	""
"0000705881"	"00005455"	"99"	"2128"	"-3"	"2128"	"-3"	"c.2128-3T>G"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705882"	"00005455"	"99"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>A"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705883"	"00005455"	"99"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>A"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705884"	"00005455"	"99"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>A"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705885"	"00005455"	"99"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>A"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705886"	"00005455"	"79"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>C"	"r.spl?"	"p.?"	"31i"	"splicing affected?"	""
"0000705887"	"00005455"	"99"	"2137"	"0"	"2137"	"0"	"c.2137G>A"	"r.(?)"	"p.(Gly713Ser)"	"32"	"missense"	"Gly535Ser"
"0000705888"	"00005455"	"99"	"2144"	"0"	"2144"	"0"	"c.2144dup"	"r.(?)"	"p.(Gly716Trpfs*5)"	"32"	"frameshift"	""
"0000705889"	"00005455"	"95"	"2145"	"0"	"2145"	"0"	"c.2145del"	"r.?"	"p.(Gly716Glufs*50)"	"32"	"frameshift"	""
"0000705890"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705891"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705892"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705893"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705894"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705895"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705896"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705897"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705898"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705899"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705900"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705901"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705902"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705903"	"00005455"	"95"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.?"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705904"	"00005455"	"99"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	"missense"	"Gly541Ser"
"0000705905"	"00005455"	"99"	"2156"	"0"	"2156"	"0"	"c.2156G>A"	"r.(?)"	"p.(Gly719Asp)"	"32"	"missense"	"Gly541Asp"
"0000705906"	"00005455"	"99"	"2164"	"0"	"2164"	"0"	"c.2164G>A"	"r.(?)"	"p.(Gly722Ser)"	"32"	"missense"	"Gly544Ser"
"0000705907"	"00005455"	"99"	"2165"	"0"	"2165"	"0"	"c.2165G>C"	"r.?"	"p.(Gly722Ala)"	"32"	"missense"	"Gly544Ala"
"0000705908"	"00005455"	"93"	"2168"	"0"	"2168"	"0"	"c.2168C>T"	"r.(?)"	"p.(Ala723Val)"	"32"	"missense"	""
"0000705909"	"00005455"	"11"	"2175"	"0"	"2175"	"0"	"c.2175C>T"	"r.(?)"	"p.(=)"	"32"	"silent"	""
"0000705910"	"00005455"	"51"	"2175"	"0"	"2175"	"0"	"c.2175C>T"	"r.(?)"	"p.(=)"	"32"	"silent"	""
"0000705911"	"00005455"	"95"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Gln727*)"	"32"	"nonsense"	""
"0000705912"	"00005455"	"99"	"2182"	"0"	"2182"	"0"	"c.2182G>A"	"r.(?)"	"p.(Gly728Arg)"	"32"	"missense"	"Gly550Arg"
"0000705913"	"00005455"	"99"	"2182"	"0"	"2182"	"0"	"c.2182G>A"	"r.(?)"	"p.(Gly728Arg)"	"32"	"missense"	"Gly550Arg"
"0000705914"	"00005455"	"99"	"2183"	"0"	"2183"	"0"	"c.2183G>A"	"r.?"	"p.(Gly728Glu)"	"32"	"missense"	"p.Gly550Glu"
"0000705915"	"00005455"	"99"	"2192"	"0"	"2192"	"0"	"c.2192G>C"	"r.(?)"	"p.(Gly731Ala)"	"32"	"missense"	"Gly553Arg"
"0000705916"	"00005455"	"95"	"2192"	"0"	"2192"	"0"	"c.2192G>C"	"r.?"	"p.(Gly731Ala)"	"32"	"missense"	"Gly553Arg"
"0000705917"	"00005455"	"99"	"2192"	"0"	"2192"	"0"	"c.2192G>T"	"r.(?)"	"p.(Gly731Val)"	"32"	"missense"	"Gly553Val"
"0000705918"	"00005455"	"95"	"2196"	"0"	"2196"	"0"	"c.2196del"	"r.(?)"	"p.(Glu732Aspfs*34)"	"32"	"frameshift"	""
"0000705919"	"00005455"	"99"	"2201"	"0"	"2201"	"0"	"c.2201G>C"	"r.(?)"	"p.(Gly734Ala)"	"32"	"missense"	"Gly556Ala"
"0000705920"	"00005455"	"99"	"2201"	"0"	"2201"	"0"	"c.2201G>T"	"r.(?)"	"p.(Gly734Val)"	"32"	"missense"	"Gly556Val"
"0000705921"	"00005455"	"99"	"2209"	"0"	"2209"	"0"	"c.2209G>T"	"r.(?)"	"p.(Gly737Cys)"	"32"	"missense"	"Gly559Cys"
"0000705922"	"00005455"	"99"	"2209"	"0"	"2209"	"0"	"c.2209G>T"	"r.(?)"	"p.(Gly737Cys)"	"32"	"missense"	"Gly559Cys"
"0000705923"	"00005455"	"99"	"2209"	"0"	"2209"	"0"	"c.2209G>T"	"r.(?)"	"p.(Gly737Cys)"	"32"	"missense"	"Gly559Cys"
"0000705924"	"00005455"	"99"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Gly737Asp)"	"32"	"missense"	"Gly559Asp"
"0000705925"	"00005455"	"99"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Gly737Asp)"	"32"	"missense"	"Gly559Asp"
"0000705926"	"00005455"	"99"	"2216"	"0"	"2216"	"0"	"c.2216del"	"r.(?)"	"p.(Pro739Glnfs*27)"	"32"	"frameshift"	""
"0000705927"	"00005455"	"99"	"2218"	"0"	"2218"	"0"	"c.2218G>C"	"r.(?)"	"p.(Gly740Arg)"	"32"	"missense"	"Gly562Arg"
"0000705928"	"00005455"	"99"	"2227"	"0"	"2227"	"0"	"c.2227G>A"	"r.(?)"	"p.(Gly743Ser)"	"32"	"missense"	"Gly565Ser"
"0000705929"	"00005455"	"99"	"2228"	"0"	"2228"	"0"	"c.2228G>A"	"r.(?)"	"p.(Gly743Asp)"	"32"	"missense"	"Gly565Asp"
"0000705930"	"00005455"	"99"	"2228"	"0"	"2228"	"0"	"c.2228G>T"	"r.2228g>t"	"p.(Gly743Val)"	"32"	"missense"	"Gly565Val"
"0000705931"	"00005455"	"99"	"2235"	"0"	"2235"	"1"	"c.2235_2235+1del"	"r.spl?"	"p.(Gly746*)"	"32"	"frameshift"	""
"0000705932"	"00005455"	"99"	"2235"	"0"	"2235"	"1"	"c.2235_2235+1del"	"r.spl?"	"p.?"	"32"	"splicing affected?"	""
"0000705933"	"00005455"	"99"	"2235"	"0"	"2235"	"1"	"c.2235_2235+1del"	"r.spl?"	"p.?"	"32"	"splicing affected?"	""
"0000705934"	"00005455"	"99"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705935"	"00005455"	"99"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705936"	"00005455"	"99"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705937"	"00005455"	"99"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705938"	"00005455"	"95"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.?"	"-"	"32i"	"splicing affected?"	""
"0000705939"	"00005455"	"99"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705940"	"00005455"	"99"	"2235"	"5"	"2235"	"5"	"c.2235+5G>C"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705941"	"00005455"	"99"	"2236"	"-47"	"2273"	"0"	"c.2236-47_2273del"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705942"	"00005455"	"99"	"2236"	"-2"	"2236"	"-2"	"c.2236-2A>G"	"r.spl?"	"p.?"	"32i"	"splicing affected?"	""
"0000705943"	"00005455"	"73"	"2236"	"-1"	"2236"	"-1"	"c.2236-1G>A"	"r.spl?"	"p.?"	"32i"	"frameshift"	""
"0000705944"	"00005455"	"99"	"2245"	"0"	"2245"	"0"	"c.2245G>A"	"r.(?)"	"p.(Gly749Ser)"	"33_34"	"missense"	"Gly571Ser"
"0000705945"	"00005455"	"99"	"2263"	"0"	"2263"	"0"	"c.2263G>A"	"r.(?)"	"p.(Gly755Ser)"	"33_34"	"missense"	"Gly577Ser"
"0000705946"	"00005455"	"99"	"2263"	"0"	"2263"	"0"	"c.2263G>A"	"r.(?)"	"p.(Gly755Ser)"	"33_34"	"missense"	"Gly577Ser"
"0000705947"	"00005455"	"95"	"2263"	"0"	"2263"	"0"	"c.2263G>A"	"r.?"	"p.(Gly755Ser)"	"33_34"	"missense"	"Gly577Ser"
"0000705948"	"00005455"	"99"	"2268"	"0"	"2269"	"0"	"c.2268_2269del"	"r.(?)"	"p.(Pro757Trpfs*23)"	"33_34"	"frameshift"	""
"0000705949"	"00005455"	"99"	"2268"	"0"	"2269"	"0"	"c.2268_2269dup"	"r.(?)"	"p.(Pro757Leufs*10)"	"33_34"	"frameshift"	""
"0000705950"	"00005455"	"99"	"2268"	"0"	"2269"	"0"	"c.2268_2269dup"	"r.(?)"	"p.(Pro757Leufs*10)"	"33_34"	"frameshift"	""
"0000705951"	"00005455"	"99"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.(Pro757Leufs*9)"	"33_34"	"frameshift"	""
"0000705952"	"00005455"	"99"	"2272"	"0"	"2272"	"0"	"c.2272G>A"	"r.(?)"	"p.(Gly758Ser)"	"33_34"	"missense"	"Gly580Ser"
"0000705953"	"00005455"	"99"	"2272"	"0"	"2272"	"0"	"c.2272G>T"	"r.(?)"	"p.(Gly758Cys)"	"33_34"	"missense"	"Gly580Cys"
"0000705954"	"00005455"	"99"	"2281"	"0"	"2281"	"0"	"c.2281G>A"	"r.(?)"	"p.(Gly761Ser)"	"33_34"	"missense"	"Gly583Ser"
"0000705955"	"00005455"	"99"	"2282"	"0"	"2282"	"0"	"c.2282G>A"	"r.(?)"	"p.(Gly761Asp)"	"33_34"	"missense"	"Gly583Asp"
"0000705956"	"00005455"	"99"	"2290"	"0"	"2290"	"0"	"c.2290G>A"	"r.(?)"	"p.(Gly764Ser)"	"33_34"	"missense"	"Gly586Ser"
"0000705957"	"00005455"	"99"	"2291"	"0"	"2291"	"0"	"c.2291G>T"	"r.(?)"	"p.(Gly764Val)"	"33_34"	"missense"	"Gly586Val"
"0000705958"	"00005455"	"93"	"2297"	"0"	"2297"	"0"	"c.2297C>G"	"r.?"	"p.(Thr766Ser)"	"33_34"	"missense"	"Thr588Ser"
"0000705959"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705960"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705961"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705962"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705963"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705964"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705965"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705966"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705967"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705968"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705969"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705970"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705971"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705972"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705973"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705974"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705975"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705976"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705977"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705978"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705979"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705980"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705981"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705982"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705983"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705984"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705985"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705986"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705987"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705988"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705989"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705990"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705991"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705992"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705993"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705994"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705995"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705996"	"00005455"	"95"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705997"	"00005455"	"95"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705998"	"00005455"	"95"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000705999"	"00005455"	"95"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000706000"	"00005455"	"95"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000706001"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000706002"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000706003"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33_34"	"missense"	"Gly589Ser"
"0000706004"	"00005455"	"99"	"2300"	"0"	"2300"	"0"	"c.2300G>A"	"r.(?)"	"p.(Gly767Asp)"	"33_34"	"missense"	"Gly589Asp"
"0000706005"	"00005455"	"99"	"2308"	"0"	"2308"	"0"	"c.2308G>A"	"r.(?)"	"p.(Gly770Ser)"	"33_34"	"missense"	"Gly592Ser"
"0000706006"	"00005455"	"59"	"2308"	"0"	"2308"	"0"	"c.2308G>A"	"r.(?)"	"p.(Gly770Ser)"	"33_34"	"missense"	"Gly592Ser"
"0000706007"	"00005455"	"99"	"2308"	"0"	"2308"	"0"	"c.2308G>T"	"r.(?)"	"p.(Gly770Cys)"	"33_34"	"missense"	"Gly592Cys"
"0000706008"	"00005455"	"99"	"2308"	"0"	"2308"	"0"	"c.2308G>T"	"r.(?)"	"p.(Gly770Cys)"	"33_34"	"missense"	"Gly592Cys"
"0000706009"	"00005455"	"99"	"2309"	"0"	"2309"	"0"	"c.2309G>A"	"r.(?)"	"p.(Gly770Asp)"	"33_34"	"missense"	"Gly592Asp"
"0000706010"	"00005455"	"99"	"2317"	"0"	"2317"	"0"	"c.2317G>A"	"r.(?)"	"p.(Gly773Ser)"	"33_34"	"missense"	"Gly595Ser"
"0000706011"	"00005455"	"99"	"2317"	"0"	"2317"	"0"	"c.2317G>A"	"r.(?)"	"p.(Gly773Ser)"	"33_34"	"missense"	"Gly595Ser"
"0000706012"	"00005455"	"99"	"2317"	"0"	"2317"	"0"	"c.2317G>T"	"r.(?)"	"p.(Gly773Cys)"	"33_34"	"missense"	"Gly595Cys"
"0000706013"	"00005455"	"79"	"2320"	"0"	"2324"	"0"	"c.2320_2324del"	"r.(?)"	"p.(Pro774Trpfs*5)"	"33_34"	"frameshift"	""
"0000706014"	"00005455"	"59"	"2321"	"0"	"2321"	"0"	"c.2321del"	"r.(?)"	"p.(Pro774Leufs*334)"	"33_34"	"frameshift"	""
"0000706015"	"00005455"	"99"	"2326"	"0"	"2326"	"0"	"c.2326G>A"	"r.(?)"	"p.(Gly776Ser)"	"33_34"	"missense"	"Gly598Ser"
"0000706016"	"00005455"	"99"	"2329"	"0"	"2329"	"0"	"c.2329del"	"r.(?)"	"p.(Ala777Profs*331)"	"33_34"	"frameshift"	""
"0000706017"	"00005455"	"99"	"2335"	"0"	"2335"	"0"	"c.2335G>A"	"r.(?)"	"p.(Gly779Ser)"	"33_34"	"missense"	"Gly601Ser"
"0000706018"	"00005455"	"99"	"2335"	"0"	"2335"	"0"	"c.2335G>A"	"r.(?)"	"p.(Gly779Ser)"	"33_34"	"missense"	"Gly601Ser"
"0000706019"	"00005455"	"99"	"2335"	"0"	"2335"	"0"	"c.2335G>A"	"r.(?)"	"p.(Gly779Ser)"	"33_34"	"missense"	"Gly601Ser"
"0000706020"	"00005455"	"99"	"2335"	"0"	"2335"	"0"	"c.2335G>A"	"r.(?)"	"p.(Gly779Ser)"	"33_34"	"missense"	"Gly601Ser"
"0000706021"	"00005455"	"95"	"2335"	"0"	"2335"	"0"	"c.2335G>A"	"r.?"	"p.(Gly779Ser)"	"33_34"	"missense"	"Gly601Ser"
"0000706022"	"00005455"	"95"	"2335"	"0"	"2335"	"0"	"c.2335G>A"	"r.?"	"p.(Gly779Ser)"	"33_34"	"missense"	"Gly601Ser"
"0000706023"	"00005455"	"99"	"2337"	"0"	"2451"	"62"	"c.2337_2451+62del"	"r.spl?"	"p.(Gly746_Pro817del)"	"33_34"	"deletion"	""
"0000706024"	"00005455"	"99"	"2343"	"1"	"2343"	"1"	"c.2343+1G>A"	"r.spl?"	"p.?"	"34i"	"splicing affected?"	""
"0000706025"	"00005455"	"99"	"2344"	"-1"	"2344"	"-1"	"c.2344-1G>A"	"r.spl?"	"p.?"	"34i"	"splicing affected?"	""
"0000706026"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706027"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706028"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706029"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706030"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706031"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706032"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706033"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706034"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706035"	"00005455"	"95"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.?"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706036"	"00005455"	"95"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"35"	"missense"	"Gly610Ser"
"0000706037"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>T"	"r.(?)"	"p.(Gly788Cys)"	"35"	"missense"	"Gly610Cys"
"0000706038"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>T"	"r.(?)"	"p.(Gly788Cys)"	"35"	"missense"	"Gly610Cys"
"0000706039"	"00005455"	"99"	"2362"	"0"	"2362"	"0"	"c.2362G>T"	"r.(?)"	"p.(Gly788Cys)"	"35"	"missense"	"Gly610Cys"
"0000706040"	"00005455"	"99"	"2362"	"0"	"2384"	"0"	"c.2362_2384del"	"r.(?)"	"p.(Gly788Serfs*9)"	"35"	"frameshift"	""
"0000706041"	"00005455"	"79"	"2381"	"0"	"2381"	"0"	"c.2381G>C"	"r.(?)"	"p.(Gly794Ala)"	"35"	"missense"	"Gly616Ala"
"0000706042"	"00005455"	"79"	"2381"	"0"	"2381"	"0"	"c.2381G>C"	"r.(?)"	"p.(Gly794Ala)"	"35"	"missense"	"Gly616Ala"
"0000706043"	"00005455"	"91"	"2382"	"0"	"2382"	"0"	"c.2382A>G"	"r.(?)"	"p.(Gly794=)"	"35"	"silent"	""
"0000706044"	"00005455"	"99"	"2385"	"0"	"2395"	"0"	"c.2385_2395del"	"r.(?)"	"p.(Gly797Argfs*4)"	"35"	"frameshift"	""
"0000706045"	"00005455"	"95"	"2387"	"0"	"2387"	"0"	"c.2387G>A"	"r.(?)"	"p.(Arg796His)"	"35"	"missense"	"Arg618His"
"0000706046"	"00005455"	"99"	"2390"	"0"	"2390"	"0"	"c.2390del"	"r.(?)"	"p.(Gly797Valfs*311)"	"35"	"frameshift"	""
"0000706047"	"00005455"	"99"	"2397"	"0"	"2397"	"0"	"c.2397del"	"r.(?)"	"p.(Gly800Glufs*308)"	"35"	"frameshift"	""
"0000706048"	"00005455"	"99"	"2397"	"0"	"2397"	"0"	"c.2397dup"	"r.(?)"	"p.(Gly800Argfs*5)"	"35"	"frameshift"	""
"0000706049"	"00005455"	"99"	"2397"	"0"	"2397"	"0"	"c.2397dup"	"r.(?)"	"p.(Gly800Argfs*5)"	"35"	"frameshift"	""
"0000706050"	"00005455"	"99"	"2450"	"0"	"2450"	"0"	"c.2450dup"	"r.(?)"	"p.(Gly818Trpfs*3)"	"35"	"frameshift"	""
"0000706051"	"00005455"	"95"	"2451"	"5"	"2451"	"5"	"c.2451+5G>A"	"r.?"	"-"	"35i"	"splicing affected?"	""
"0000706052"	"00005455"	"99"	"2451"	"5"	"2451"	"5"	"c.2451+5G>C"	"r.?"	"-"	"35i"	"splicing affected?"	""
"0000706053"	"00005455"	"99"	"2398"	"0"	"2398"	"0"	"c.2398G>T"	"r.(?)"	"p.(Gly800*)"	"36"	"nonsense"	"Gly622Stop"
"0000706054"	"00005455"	"99"	"2398"	"0"	"2398"	"0"	"c.2398G>T"	"r.(?)"	"p.(Gly800*)"	"36"	"nonsense"	"Gly622Stop"
"0000706055"	"00005455"	"99"	"2398"	"0"	"2398"	"0"	"c.2398G>T"	"r.(?)"	"p.(Gly800*)"	"36"	"nonsense"	"Gly622Stop"
"0000706056"	"00005455"	"95"	"2398"	"0"	"2406"	"0"	"c.2398_2406del"	"r.?"	"p.(Gly800_Arg802del)"	"36"	"frameshift"	""
"0000706057"	"00005455"	"99"	"2410"	"0"	"2410"	"0"	"c.2410G>T"	"r.?"	"p.(Glu804*)"	"36"	"frameshift"	"Glu626*"
"0000706058"	"00005455"	"79"	"2416"	"0"	"2416"	"0"	"c.2416G>A"	"r.(?)"	"p.(Gly806Ser   )"	"36"	"missense"	"Gly628Ser"
"0000706059"	"00005455"	"99"	"2424"	"0"	"2424"	"0"	"c.2424del"	"r.(?)"	"p.(Gly809Alafs*299)"	"36"	"frameshift"	""
"0000706060"	"00005455"	"95"	"2424"	"0"	"2424"	"0"	"c.2424del"	"r.?"	"p.(Gly809Alafs*299)"	"36"	"frameshift"	""
"0000706061"	"00005455"	"99"	"2424"	"0"	"2424"	"0"	"c.2424dup"	"r.(?)"	"p.(Gly809Argfs*12)"	"36"	"frameshift"	""
"0000706062"	"00005455"	"99"	"2424"	"0"	"2424"	"0"	"c.2424dup"	"r.(?)"	"p.(Gly809Argfs*12)"	"36"	"frameshift"	""
"0000706063"	"00005455"	"99"	"2424"	"0"	"2424"	"0"	"c.2424dup"	"r.(?)"	"p.(Gly809Argfs*12)"	"36"	"frameshift"	""
"0000706064"	"00005455"	"99"	"2425"	"0"	"2425"	"0"	"c.2425G>A"	"r.(?)"	"p.(Gly809Ser)"	"36"	"missense"	"Gly631Ser"
"0000706065"	"00005455"	"99"	"2425"	"0"	"2425"	"0"	"c.2425G>A"	"r.(?)"	"p.(Gly809Ser)"	"36"	"missense"	"Gly631Ser"
"0000706066"	"00005455"	"99"	"2425"	"0"	"2425"	"0"	"c.2425G>A"	"r.(?)"	"p.(Gly809Ser)"	"36"	"missense"	"Gly631Ser"
"0000706067"	"00005455"	"99"	"2425"	"0"	"2425"	"0"	"c.2425G>A"	"r.(?)"	"p.(Gly809Ser)"	"36"	"missense"	"Gly631Ser"
"0000706068"	"00005455"	"75"	"2426"	"0"	"2426"	"0"	"c.2426dup"	"r.(?)"	"p.(Ala811Cysfs*10)"	"36"	"frameshift"	""
"0000706069"	"00005455"	"99"	"2434"	"0"	"2434"	"0"	"c.2434G>A"	"r.(?)"	"p.(Gly812Ser)"	"36"	"missense"	"Gly634Ser"
"0000706070"	"00005455"	"99"	"2443"	"0"	"2443"	"0"	"c.2443G>A"	"r.(?)"	"p.(Gly815Ser)"	"36"	"missense"	""
"0000706071"	"00005455"	"99"	"2444"	"0"	"2444"	"0"	"c.2444del"	"r.(?)"	"p.(Gly815Alafs*293)"	"36"	"frameshift"	""
"0000706072"	"00005455"	"99"	"2444"	"0"	"2444"	"0"	"c.2444del"	"r.(?)"	"p.(Gly815Alafs*293)"	"36"	"frameshift"	""
"0000706073"	"00005455"	"99"	"2444"	"0"	"2444"	"0"	"c.2444G>C"	"r.(?)"	"p.(Gly815Ala)"	"36"	"missense"	"Gly637Ala"
"0000706074"	"00005455"	"99"	"2444"	"0"	"2444"	"0"	"c.2444G>T"	"r.(?)"	"p.(Gly815Val)"	"36"	"missense"	"Gly637Val"
"0000706075"	"00005455"	"99"	"2444"	"0"	"2444"	"0"	"c.2444G>T"	"r.(?)"	"p.(Gly815Val)"	"36"	"missense"	"Gly637Val"
"0000706076"	"00005455"	"99"	"2450"	"0"	"2450"	"0"	"c.2450del"	"r.(?)"	"p.(Pro817Leufs*291)"	"36"	"frameshift"	""
"0000706077"	"00005455"	"99"	"2450"	"0"	"2450"	"0"	"c.2450del"	"r.?"	"p.(Pro817Leufs*291)"	"36"	"frameshift"	""
"0000706078"	"00005455"	"99"	"2451"	"0"	"2451"	"0"	"c.2451del"	"r.(?)"	"p.(Gly818Valfs*290)"	"36"	"frameshift"	""
"0000706079"	"00005455"	"99"	"2451"	"0"	"2451"	"0"	"c.2451del"	"r.(?)"	"p.(Gly818Valfs*290)"	"36"	"frameshift"	""
"0000706080"	"00005455"	"99"	"2451"	"0"	"2451"	"0"	"c.2451del"	"r.(?)"	"p.(Gly818Valfs*290)"	"36"	"frameshift"	""
"0000706081"	"00005455"	"99"	"2451"	"1"	"2451"	"1"	"c.2451+1G>A"	"r.spl?"	"p.?"	"36i"	"splicing affected?"	""
"0000706082"	"00005455"	"99"	"2451"	"77"	"2451"	"77"	"c.2451+77C>T"	"r.(=)"	"p.(Pro817_Gly818ins25)"	"36i"	"insertion"	""
"0000706083"	"00005455"	"99"	"2451"	"77"	"2451"	"77"	"c.2451+77C>T"	"r.(=)"	"p.(Pro817_Gly818ins25)"	"36i"	"insertion"	""
"0000706084"	"00005455"	"99"	"2451"	"94"	"2451"	"94"	"c.2451+94G>T"	"r.(=)"	"p.(=)"	"36i"	"splicing affected?"	""
"0000706085"	"00005455"	"99"	"2451"	"94"	"2451"	"94"	"c.2451+94G>T"	"r.(=)"	"p.(=)"	"36i"	"splicing affected?"	""
"0000706086"	"00005455"	"99"	"2452"	"-2"	"2452"	"-2"	"c.2452-2A>G"	"r.spl?"	"p.?"	"36i"	"splicing affected?"	""
"0000706087"	"00005455"	"99"	"2452"	"-2"	"2452"	"-2"	"c.2452-2A>G"	"r.spl?"	"p.?"	"36i"	"splicing affected?"	""
"0000706088"	"00005455"	"99"	"2452"	"-2"	"2452"	"-2"	"c.2452-2A>T"	"r.spl?"	"p.?"	"36i"	"splicing affected?"	""
"0000706089"	"00005455"	"99"	"2452"	"-1"	"2452"	"-1"	"c.2452-1G>A"	"r.spl?"	"p.?"	"36i"	"splicing affected?"	""
"0000706090"	"00005455"	"99"	"2548"	"0"	"2556"	"0"	"c.2548_2556del"	"r.?"	"p.(Pro850_Pro852del)"	"36"	"deletion"	"Pro672_Pro674del"
"0000706091"	"00005455"	"99"	"2451"	"0"	"2451"	"0"	"c.2451dup"	"r.(?)"	"p.(Gly818TrpfsX3)"	"37"	"frameshift"	""
"0000706092"	"00005455"	"59"	"2452"	"0"	"2452"	"0"	"c.2452G>A"	"r.?"	"p.(Gly818Ser)"	"37"	"missense"	"Gly640Ser"
"0000706093"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706094"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706095"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706096"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706097"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706098"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706099"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706100"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706101"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706102"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706103"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706104"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706105"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706106"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706107"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706108"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706109"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706110"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706111"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706112"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706113"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706114"	"00005455"	"79"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706115"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706116"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706117"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706118"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706119"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706120"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706121"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706122"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706123"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706124"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706125"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706126"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706127"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706128"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706129"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706130"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706131"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706132"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706133"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.?"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706134"	"00005455"	"95"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"37"	"missense"	"Gly643Ser"
"0000706135"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>C"	"r.(?)"	"p.(Gly821Arg)"	"37"	"missense"	"Gly643Arg"
"0000706136"	"00005455"	"99"	"2461"	"0"	"2461"	"0"	"c.2461G>C"	"r.(?)"	"p.(Gly821Arg)"	"37"	"missense"	"Gly643Arg"
"0000706137"	"00005455"	"99"	"2464"	"0"	"2464"	"0"	"c.2464C>T"	"r.(?)"	"p.(Gln822*)"	"37"	"nonsense"	"Gln644Stop"
"0000706138"	"00005455"	"99"	"2470"	"0"	"2470"	"0"	"c.2470G>C"	"r.(?)"	"p.(Gly824Arg)"	"37"	"missense"	"Gly646Arg"
"0000706139"	"00005455"	"99"	"2470"	"0"	"2470"	"0"	"c.2470G>T"	"r.(?)"	"p.(Gly824Cys)"	"37"	"missense"	"Gly646Cys"
"0000706140"	"00005455"	"79"	"2471"	"0"	"2471"	"0"	"c.2471G>C"	"r.(?)"	"p.(Gly824Ala   )"	"37"	"missense"	"Gly646Ala"
"0000706141"	"00005455"	"99"	"2471"	"0"	"2471"	"0"	"c.2471G>C"	"r.(?)"	"p.(Gly824Ala   )"	"37"	"missense"	"Gly646Ala"
"0000706142"	"00005455"	"99"	"2480"	"0"	"2480"	"0"	"c.2480G>A"	"r.(?)"	"p.(Gly827Asp)"	"37"	"missense"	"Gly649Asp"
"0000706143"	"00005455"	"99"	"2484"	"0"	"2510"	"0"	"c.2484_2510dup"	"r.(?)"	"p.(Glu828_Gly836dup)"	"37"	"duplication"	""
"0000706144"	"00005455"	"99"	"2497"	"0"	"2497"	"0"	"c.2497G>A"	"r.(?)"	"p.(Gly833Ser)"	"37"	"missense"	"Gly655Ser"
"0000706145"	"00005455"	"99"	"2498"	"0"	"2498"	"0"	"c.2498G>A"	"r.(?)"	"p.(Gly833Asp)"	"37"	"missense"	"Gly655Asp"
"0000706146"	"00005455"	"99"	"2498"	"0"	"2498"	"0"	"c.2498G>A"	"r.(?)"	"p.(Gly833Asp)"	"37"	"missense"	"Gly655Asp"
"0000706147"	"00005455"	"99"	"2498"	"0"	"2498"	"0"	"c.2498G>A"	"r.(?)"	"p.(Gly833Asp)"	"37"	"missense"	"Gly655Asp"
"0000706148"	"00005455"	"99"	"2498"	"0"	"2498"	"0"	"c.2498G>A"	"r.(?)"	"p.(Gly833Asp)"	"37"	"missense"	"Gly655Asp"
"0000706149"	"00005455"	"99"	"2498"	"0"	"2498"	"0"	"c.2498G>T"	"r.(?)"	"p.(Gly833Val)"	"37"	"missense"	"Gly655Val"
"0000706150"	"00005455"	"99"	"2507"	"0"	"2507"	"0"	"c.2507G>C"	"r.(?)"	"p.(Gly836Ala)"	"37"	"missense"	"Gly658Ala"
"0000706151"	"00005455"	"99"	"2509"	"0"	"2559"	"9"	"c.2509_2559+9del"	"r.spl?"	"p.?"	"37"	"splicing affected?"	""
"0000706152"	"00005455"	"99"	"2510"	"0"	"2525"	"0"	"c.2510_2525del"	"r.(?)"	"p.(Asp837AlafsX266)"	"37"	"frameshift"	""
"0000706153"	"00005455"	"99"	"2515"	"0"	"2515"	"0"	"c.2515G>A"	"r.(?)"	"p.(Gly839Ser)"	"37"	"missense"	"Gly661Ser"
"0000706154"	"00005455"	"99"	"2515"	"0"	"2515"	"0"	"c.2515G>A"	"r.(?)"	"p.(Gly839Ser)"	"37"	"missense"	"Gly661Ser"
"0000706155"	"00005455"	"99"	"2515"	"0"	"2515"	"0"	"c.2515G>A"	"r.(?)"	"p.(Gly839Ser)"	"37"	"missense"	"Gly661Ser"
"0000706156"	"00005455"	"99"	"2515"	"0"	"2515"	"0"	"c.2515G>C"	"r.(?)"	"p.(Gly839Arg)"	"37"	"missense"	"Gly661Arg"
"0000706157"	"00005455"	"99"	"2516"	"0"	"2516"	"0"	"c.2516G>A"	"r.(?)"	"p.(Gly839Asp)"	"37"	"missense"	"Gly661Asp"
"0000706158"	"00005455"	"99"	"2522"	"0"	"2522"	"0"	"c.2522del"	"r.(?)"	"p.(Pro841Leufs*267)"	"37"	"frameshift"	""
"0000706159"	"00005455"	"99"	"2522"	"0"	"2522"	"0"	"c.2522dup"	"r.(?)"	"p.(Gly842Trpfs*14)"	"37"	"frameshift"	""
"0000706160"	"00005455"	"99"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706161"	"00005455"	"99"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706162"	"00005455"	"99"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706163"	"00005455"	"99"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706164"	"00005455"	"99"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706165"	"00005455"	"99"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706166"	"00005455"	"95"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706167"	"00005455"	"99"	"2524"	"0"	"2524"	"0"	"c.2524G>C"	"r.(?)"	"p.(Gly842Arg)"	"37"	"missense"	"Gly664Arg"
"0000706168"	"00005455"	"99"	"2524"	"0"	"2524"	"0"	"c.2524G>C"	"r.(?)"	"p.(Gly842Arg)"	"37"	"missense"	"Gly664Arg"
"0000706169"	"00005455"	"99"	"2525"	"0"	"2525"	"0"	"c.2525del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706170"	"00005455"	"99"	"2525"	"0"	"2525"	"0"	"c.2525del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706171"	"00005455"	"99"	"2525"	"0"	"2525"	"0"	"c.2525del"	"r.(?)"	"p.(Gly842Alafs*266)"	"37"	"frameshift"	""
"0000706172"	"00005455"	"99"	"2525"	"0"	"2525"	"0"	"c.2525G>A"	"r.(?)"	"p.(Gly842Asp)"	"37"	"missense"	"Gly664Asp"
"0000706173"	"00005455"	"99"	"2533"	"0"	"2533"	"0"	"c.2533G>A"	"r.(?)"	"p.(Gly845Arg)"	"37"	"missense"	"Gly667Arg"
"0000706174"	"00005455"	"99"	"2533"	"0"	"2533"	"0"	"c.2533G>A"	"r.(?)"	"p.(Gly845Arg)"	"37"	"missense"	"Gly667Arg"
"0000706175"	"00005455"	"99"	"2533"	"0"	"2533"	"0"	"c.2533G>A"	"r.(?)"	"p.(Gly845Arg)"	"37"	"missense"	"Gly667Arg"
"0000706176"	"00005455"	"99"	"2533"	"0"	"2533"	"0"	"c.2533G>A"	"r.(?)"	"p.(Gly845Arg)"	"37"	"missense"	"Gly667Arg"
"0000706177"	"00005455"	"99"	"2533"	"0"	"2533"	"0"	"c.2533G>C"	"r.(?)"	"p.(Gly845Arg)"	"37"	"missense"	"Gly667Arg"
"0000706178"	"00005455"	"99"	"2542"	"0"	"2542"	"0"	"c.2542G>C"	"r.(?)"	"p.(Gly848Arg)"	"37"	"missense"	"Gly670Arg"
"0000706179"	"00005455"	"95"	"2548"	"0"	"2549"	"0"	"c.2548_2549dup"	"r.(?)"	"p.(Gly851Leufs*258)"	"37"	"frameshift"	""
"0000706180"	"00005455"	"99"	"2549"	"0"	"2549"	"0"	"c.2549del"	"r.?"	"p.(Pro850Leufs*258)"	"37"	"frameshift"	""
"0000706181"	"00005455"	"99"	"2549"	"0"	"2549"	"0"	"c.2549del"	"r.?"	"p.(Pro850Leufs*258)"	"37"	"frameshift"	""
"0000706182"	"00005455"	"99"	"2549"	"0"	"2549"	"0"	"c.2549del"	"r.(?)"	"p.(Pro850Leufs*258)"	"37"	"frameshift"	""
"0000706183"	"00005455"	"99"	"2550"	"0"	"2550"	"0"	"c.2550del"	"r.(?)"	"p.(Gly851Alafs*257)"	"37"	"frameshift"	""
"0000706184"	"00005455"	"99"	"2550"	"0"	"2550"	"0"	"c.2550del"	"r.(?)"	"p.(Gly851Alafs*257)"	"37"	"frameshift"	""
"0000706185"	"00005455"	"99"	"2550"	"0"	"2550"	"0"	"c.2550dup"	"r.(?)"	"p.(Gly851Trpfs*5)"	"37"	"frameshift"	""
"0000706186"	"00005455"	"99"	"2552"	"0"	"2552"	"0"	"c.2552G>A"	"r.(?)"	"p.(Gly851Asp)"	"37"	"missense"	"Gly673Asp"
"0000706187"	"00005455"	"99"	"2552"	"0"	"2552"	"0"	"c.2552G>A"	"r.(?)"	"p.(Gly851Asp)"	"37"	"missense"	"Gly673Asp"
"0000706188"	"00005455"	"99"	"2552"	"0"	"2553"	"0"	"c.2552_2553delinsTT"	"r.(?)"	"p.(Gly851Val)"	"37"	"missense"	"Gly673Val"
"0000706189"	"00005455"	"99"	"2559"	"1"	"2559"	"1"	"c.2559+1G>A"	"r.spl?"	"p.?"	"37i"	"splicing affected?"	""
"0000706190"	"00005455"	"99"	"2559"	"1"	"2559"	"1"	"c.2559+1G>A"	"r.spl?"	"p.?"	"37i"	"splicing affected?"	""
"0000706191"	"00005455"	"99"	"2559"	"1"	"2559"	"1"	"c.2559+1G>A"	"r.spl?"	"p.?"	"37i"	"splicing affected?"	""
"0000706192"	"00005455"	"99"	"2559"	"2"	"2559"	"2"	"c.2559+2T>C"	"r.spl?"	"p.?"	"37i"	"splicing affected?"	""
"0000706193"	"00005455"	"99"	"2559"	"5"	"2559"	"5"	"c.2559+5G>A"	"r.spl?"	"p.?"	"37i"	"splicing affected?"	""
"0000706194"	"00005455"	"99"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.spl?"	"p.?"	"37i"	"splicing affected?"	""
"0000706195"	"00005455"	"99"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.spl?"	"p.?"	"37"	"splicing affected?"	""
"0000706196"	"00005455"	"99"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.(?)"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706197"	"00005455"	"99"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.(?)"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706198"	"00005455"	"99"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.(?)"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706199"	"00005455"	"95"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.?"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706200"	"00005455"	"95"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.?"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706201"	"00005455"	"95"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.?"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706202"	"00005455"	"99"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.?"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706203"	"00005455"	"95"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.(?)"	"p.(Gly854Ser)"	"38"	"missense"	"Gly676Ser"
"0000706204"	"00005455"	"99"	"2560"	"0"	"2560"	"0"	"c.2560G>C"	"r.(?)"	"p.(Gly854Arg)"	"38"	"missense"	"Gly676Arg"
"0000706205"	"00005455"	"99"	"2560"	"0"	"2560"	"0"	"c.2560G>T"	"r.(?)"	"p.(Gly854Cys)"	"38"	"missense"	"Gly676Cys"
"0000706206"	"00005455"	"99"	"2561"	"0"	"2561"	"0"	"c.2561G>T"	"r.(?)"	"p.(Gly854Val)"	"38"	"missense"	"Gly676Val"
"0000706207"	"00005455"	"95"	"2562"	"0"	"2565"	"0"	"c.2562_2565dup"	"r.?"	"p.(Val856*)"	"38"	"nonsense"	"Val678Stop"
"0000706208"	"00005455"	"55"	"2563"	"0"	"2563"	"0"	"c.2563A>C"	"r.(?)"	"p.(Asn855His)"	"38"	"missense"	"Asn677His"
"0000706209"	"00005455"	"99"	"2563"	"0"	"2565"	"0"	"c.2563_2565dup"	"r.(?)"	"p.(Asn855dup)"	"38"	"duplication"	""
"0000706210"	"00005455"	"99"	"2567"	"0"	"2569"	"0"	"c.2567_2569del"	"r.(?)"	"p.(Val856del)"	"38"	"deletion"	""
"0000706211"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706212"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706213"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706214"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706215"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706216"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706217"	"00005455"	"59"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706218"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706219"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706220"	"00005455"	"99"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.?"	"p.(Gly857Cys)"	"38"	"missense"	"Gly679Cys"
"0000706221"	"00005455"	"99"	"2579"	"0"	"2579"	"0"	"c.2579G>C"	"r.(?)"	"p.(Gly860Ala)"	"38"	"missense"	"Gly682Ala"
"0000706222"	"00005455"	"99"	"2587"	"0"	"2587"	"0"	"c.2587G>T"	"r.(?)"	"p.(Gly863Cys)"	"38"	"missense"	"Gly685Cys"
"0000706223"	"00005455"	"99"	"2588"	"0"	"2588"	"0"	"c.2588G>T"	"r.(?)"	"p.(Gly863Val)"	"38"	"missense"	"Gly685Val"
"0000706224"	"00005455"	"99"	"2588"	"0"	"2588"	"0"	"c.2588G>T"	"r.(?)"	"p.(Gly863Val)"	"38"	"missense"	"Gly685Val"
"0000706225"	"00005455"	"99"	"2594"	"0"	"2594"	"0"	"c.2594dup"	"r.(?)"	"p.(Gly866Argfs*47)"	"38"	"frameshift"	""
"0000706226"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706227"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706228"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706229"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706230"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706231"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706232"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706233"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706234"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706235"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706236"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706238"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000706239"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>T"	"r.(?)"	"p.(Gly866Cys)"	"38"	"missense"	"Gly688Cys"
"0000706240"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>T"	"r.(?)"	"p.(Gly866Cys)"	"38"	"missense"	"Gly688Cys"
"0000706241"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>T"	"r.(?)"	"p.(Gly866Cys)"	"38"	"missense"	"Gly688Cys"
"0000706242"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>T"	"r.(?)"	"p.(Gly866Cys)"	"38"	"missense"	"Gly688Cys"
"0000706243"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>T"	"r.(?)"	"p.(Gly866Cys)"	"38"	"missense"	"Gly688Cys"
"0000706244"	"00005455"	"99"	"2597"	"0"	"2597"	"0"	"c.2597G>C"	"r.(?)"	"p.(Gly866Ala)"	"38"	"missense"	"Gly688Ala"
"0000706245"	"00005455"	"99"	"2605"	"0"	"2605"	"0"	"c.2605G>T"	"r.(?)"	"p.(Gly869Cys)"	"38"	"missense"	"Gly691Cys"
"0000706246"	"00005455"	"99"	"2612"	"0"	"2612"	"0"	"c.2612del"	"r.(?)"	"p.(Pro871Leufs*237)"	"38"	"frameshift"	""
"0000706247"	"00005455"	"99"	"2612"	"0"	"2612"	"0"	"c.2612del"	"r.(?)"	"p.(Pro871Leufs*237)"	"38"	"frameshift"	""
"0000706248"	"00005455"	"99"	"2612"	"0"	"2612"	"0"	"c.2612del"	"r.(?)"	"p.(Pro871Leufs*237)"	"38"	"frameshift"	""
"0000706249"	"00005455"	"99"	"2612"	"0"	"2612"	"0"	"c.2612del"	"r.(?)"	"p.(Pro871Leufs*237)"	"38"	"frameshift"	""
"0000706250"	"00005455"	"99"	"2612"	"0"	"2612"	"0"	"c.2612dup"	"r.(?)"	"p.(Gly872Trpfs*41)"	"38"	"frameshift"	""
"0000706251"	"00005455"	"99"	"2612"	"0"	"2613"	"0"	"c.2612_2613del"	"r.(?)"	"p.(Pro871Argfs*41)"	"38"	"frameshift"	""
"0000706252"	"00005455"	"99"	"2613"	"0"	"2613"	"0"	"c.2613del"	"r.(?)"	"p.(Gly872Valfs*236)"	"38"	"frameshift"	""
"0000706253"	"00005455"	"99"	"2613"	"6"	"2613"	"6"	"c.2613+6T>C"	"r.(=)"	"p.(=)"	"38i"	"splicing affected?"	""
"0000706254"	"00005455"	"95"	"2613"	"6"	"2613"	"6"	"c.2613+6T>C"	"r.(2560_2613del)"	"p.(Gly854_Pro871del)"	"38i"	"splicing affected?"	""
"0000706255"	"00005455"	"95"	"2613"	"6"	"2613"	"6"	"c.2613+6T>C"	"r.(=)"	"p.(=)"	"38i"	"splicing affected?"	""
"0000706256"	"00005455"	"99"	"2614"	"-1"	"2614"	"-1"	"c.2614-1G>A"	"r.spl?"	"p.?"	"38i"	"splicing affected?"	""
"0000706257"	"00005455"	"79"	"2667"	"5"	"2667"	"5"	"c.2667+5G>A"	"r.spl?"	"p.?"	"38i"	"splicing affected?"	""
"0000706258"	"00005455"	"99"	"2615"	"0"	"2615"	"0"	"c.2615G>C"	"r.(?)"	"p.(Gly872Ala)"	"39"	"missense"	"Gly694Ala"
"0000706259"	"00005455"	"99"	"2623"	"0"	"2623"	"0"	"c.2623G>A"	"r.(?)"	"p.(Gly875Ser)"	"39"	"missense"	"Gly697Ser"
"0000706260"	"00005455"	"99"	"2623"	"0"	"2623"	"0"	"c.2623G>A"	"r.(?)"	"p.(Gly875Ser)"	"39"	"missense"	"Gly697Ser"
"0000706261"	"00005455"	"99"	"2632"	"0"	"2632"	"0"	"c.2632G>A"	"r.(?)"	"p.(Gly878Ser)"	"39"	"missense"	"Gly700Ser"
"0000706262"	"00005455"	"99"	"2633"	"0"	"2633"	"0"	"c.2633G>A"	"r.(?)"	"p.(Gly878Asp)"	"39"	"missense"	"Gly700Asp"
"0000706263"	"00005455"	"99"	"2642"	"0"	"2642"	"0"	"c.2642G>T"	"r.(?)"	"p.(Gly881Val)"	"39"	"missense"	"Gly703Val"
"0000706264"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706265"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706266"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706267"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706268"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706269"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706270"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706271"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706272"	"00005455"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706273"	"00005455"	"95"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.?"	"p.(Arg882*)"	"39"	"nonsense"	"Arg704Stop"
"0000706274"	"00005455"	"99"	"2645"	"0"	"2663"	"0"	"c.2645_2663dup"	"r.(?)"	"p.(Gly890Argfs*29)"	"39"	"frameshift"	""
"0000706275"	"00005455"	"99"	"2646"	"0"	"2647"	"0"	"c.2646_2647del"	"r.(?)"	"p.(Val883Argfs*29)"	"39"	"frameshift"	""
"0000706276"	"00005455"	"99"	"2650"	"0"	"2650"	"0"	"c.2650G>A"	"r.(?)"	"p.(Gly884Ser)"	"39"	"missense"	"Gly706Ser"
"0000706277"	"00005455"	"99"	"2650"	"0"	"2650"	"0"	"c.2650G>A"	"r.(?)"	"p.(Gly884Ser)"	"39"	"missense"	"Gly706Ser"
"0000706278"	"00005455"	"99"	"2659"	"0"	"2659"	"0"	"c.2659G>A"	"r.(?)"	"p.(Gly887Ser)"	"39"	"missense"	"Gly709Ser"
"0000706279"	"00005455"	"99"	"2667"	"1"	"2667"	"1"	"c.2667+1G>A"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706280"	"00005455"	"99"	"2667"	"1"	"2667"	"1"	"c.2667+1G>A"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706281"	"00005455"	"79"	"2667"	"2"	"2667"	"2"	"c.2667+2T>G"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706282"	"00005455"	"99"	"2667"	"3"	"2667"	"6"	"c.2667+3_2667+6del"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706283"	"00005455"	"99"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>A"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706284"	"00005455"	"99"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>A"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706285"	"00005455"	"99"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>A"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706286"	"00005455"	"99"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>T"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706287"	"00005455"	"99"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>T"	"r.spl?"	"p.?"	"39i"	"splicing affected?"	""
"0000706288"	"00005455"	"99"	"2668"	"-1"	"3531"	"1"	"c.(2667+1_2668-1)_(3531+1_3532-1)del"	"r.?"	"p.(Gly890_Val1177del)"	"38i_47i"	"deletion, multi exon"	"Gly712_Val999del"
"0000706289"	"00005455"	"99"	"2732"	"0"	"2732"	"0"	"c.2732del"	"r.(?)"	"p.(Gly911Valfs*197)"	"39"	"frameshift"	""
"0000706290"	"00005455"	"99"	"2684"	"0"	"2684"	"0"	"c.2684del"	"r.(?)"	"p.(Pro895Leufs*213)"	"40"	"frameshift"	""
"0000706291"	"00005455"	"99"	"2684"	"0"	"2684"	"0"	"c.2684del"	"r.(?)"	"p.(Pro895Leufs*213)"	"40"	"frameshift"	""
"0000706292"	"00005455"	"99"	"2684"	"0"	"2684"	"0"	"c.2684dup"	"r.(?)"	"p.(Gly896Trpfs*17)"	"40"	"frameshift"	""
"0000706293"	"00005455"	"99"	"2684"	"0"	"2684"	"0"	"c.2684dup"	"r.(?)"	"p.(Gly896Trpfs*17)"	"40"	"frameshift"	""
"0000706294"	"00005455"	"99"	"2684"	"0"	"2684"	"0"	"c.2684dup"	"r.(?)"	"p.(Gly896Trpfs*17)"	"40"	"frameshift"	""
"0000706295"	"00005455"	"99"	"2686"	"0"	"2686"	"0"	"c.2686G>T"	"r.(?)"	"p.(Gly896Cys)"	"40"	"missense"	"Gly718Cys"
"0000706296"	"00005455"	"99"	"2686"	"0"	"2686"	"0"	"c.2686G>T"	"r.(?)"	"p.(Gly896Cys)"	"40"	"missense"	"Gly718Cys"
"0000706297"	"00005455"	"99"	"2687"	"0"	"2687"	"0"	"c.2687G>A"	"r.(?)"	"p.(Gly896Asp)"	"40"	"missense"	"Gly718Asp"
"0000706298"	"00005455"	"95"	"2704"	"0"	"2704"	"0"	"c.2704G>A"	"r.?"	"p.(Gly902Ser)"	"40"	"missense"	"Gly724Ser"
"0000706299"	"00005455"	"91"	"2716"	"0"	"2716"	"0"	"c.2716G>A"	"r.(?)"	"p.(Gly906Ser)"	"40"	"missense"	"Gly728Ser"
"0000706300"	"00005455"	"99"	"2725"	"0"	"2733"	"0"	"c.2725_2733del"	"r.(?)"	"p.(Pro909_Gly911del)"	"40"	"deletion"	"Pro731_Gly733del"
"0000706301"	"00005455"	"99"	"2731"	"0"	"2731"	"0"	"c.2731G>A"	"r.(?)"	"p.(Gly911Ser)"	"40"	"missense"	"Gly733Ser"
"0000706302"	"00005455"	"99"	"2750"	"0"	"2750"	"0"	"c.2750del"	"r.(?)"	"p.(Gly917Aspfs*191)"	"40"	"frameshift"	""
"0000706303"	"00005455"	"99"	"2750"	"0"	"2750"	"0"	"c.2750G>A"	"r.(?)"	"p.(Gly917Glu)"	"40"	"missense"	"Gly739Glu"
"0000706304"	"00005455"	"99"	"2774"	"0"	"2774"	"0"	"c.2774del"	"r.(?)"	"p.(Pro925Leufs*183)"	"40"	"frameshift"	""
"0000706305"	"00005455"	"99"	"2775"	"0"	"2775"	"0"	"c.2775del"	"r.(?)"	"p.(Gly926Valfs*182)"	"40"	"frameshift"	""
"0000706306"	"00005455"	"99"	"2775"	"0"	"2775"	"0"	"c.2775del"	"r.(?)"	"p.(Gly926Valfs*182)"	"40"	"frameshift"	""
"0000706307"	"00005455"	"95"	"2775"	"0"	"2775"	"0"	"c.2775del"	"r.?"	"p.(Gly926Valfs*182)"	"40"	"frameshift"	""
"0000706308"	"00005455"	"99"	"2775"	"0"	"2775"	"0"	"c.2775del"	"r.?"	"p.(Gly926Valfs*182)"	"40"	"frameshift"	""
"0000706309"	"00005455"	"99"	"2776"	"0"	"2776"	"0"	"c.2776G>T"	"r.(?)"	"p.(Gly926Cys)"	"40"	"missense"	"Gly748Cys"
"0000706310"	"00005455"	"99"	"2784"	"0"	"2784"	"0"	"c.2784del"	"r.(?)"	"p.(Gly929Alafs*179)"	"40"	"frameshift"	""
"0000706311"	"00005455"	"99"	"2784"	"0"	"2784"	"0"	"c.2784del"	"r.(?)"	"p.(Gly929Alafs*179)"	"40"	"frameshift"	""
"0000706312"	"00005455"	"99"	"2784"	"0"	"2784"	"0"	"c.2784del"	"r.(?)"	"p.(Gly929Alafs*179)"	"40"	"frameshift"	""
"0000706313"	"00005455"	"95"	"2784"	"0"	"2784"	"0"	"c.2784del"	"r.?"	"p.(Gly929Alafs*179)"	"40"	"frameshift"	""
"0000706314"	"00005455"	"95"	"2784"	"0"	"2784"	"0"	"c.2784del"	"r.?"	"p.(Gly929Alafs*179)"	"40"	"frameshift"	""
"0000706315"	"00005455"	"99"	"2795"	"0"	"2795"	"0"	"c.2795G>A"	"r.(?)"	"p.(Gly932Asp)"	"40"	"missense"	"Gly754Asp"
"0000706316"	"00005455"	"99"	"2810"	"0"	"2810"	"0"	"c.2810dup"	"r.(?)"	"p.(Gly938Trpfs*3)"	"40"	"frameshift"	""
"0000706317"	"00005455"	"95"	"2822"	"0"	"2822"	"0"	"c.2822del"	"r.(?)"	"p.(Gly941Valfs*167)"	"40"	"frameshift"	""
"0000706318"	"00005455"	"99"	"2829"	"1"	"2829"	"1"	"c.2829+1G>A"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706319"	"00005455"	"99"	"2829"	"1"	"2829"	"1"	"c.2829+1G>A"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706320"	"00005455"	"99"	"2829"	"1"	"2829"	"1"	"c.2829+1G>A"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706321"	"00005455"	"95"	"2829"	"1"	"2829"	"1"	"c.2829+1G>T"	"r.?"	"-"	"40i"	"splicing affected?"	""
"0000706322"	"00005455"	"99"	"2829"	"3"	"2829"	"3"	"c.2829+3A>C"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706323"	"00005455"	"99"	"2829"	"5"	"2829"	"5"	"c.2829+5G>A"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706324"	"00005455"	"99"	"2830"	"-3"	"2830"	"-3"	"c.2830-3A>G"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706325"	"00005455"	"59"	"2830"	"-3"	"2830"	"-3"	"c.2830-3A>G"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706326"	"00005455"	"99"	"2830"	"-1"	"2830"	"-1"	"c.2830-1G>A"	"r.spl?"	"p.?"	"40i"	"splicing affected?"	""
"0000706327"	"00005455"	"99"	"2830"	"0"	"2830"	"0"	"c.2830G>T"	"r.(?)"	"p.(Gly944Cys)"	"41"	"missense"	"Gly766Cys"
"0000706328"	"00005455"	"99"	"2839"	"0"	"2839"	"0"	"c.2839G>T"	"r.(?)"	"p.(Gly947Cys)"	"41"	"missense"	"Gly769Cys"
"0000706329"	"00005455"	"99"	"2839"	"0"	"2839"	"0"	"c.2839G>T"	"r.(?)"	"p.(Gly947Cys)"	"41"	"missense"	"Gly769Cys"
"0000706330"	"00005455"	"99"	"2848"	"0"	"2848"	"0"	"c.2848G>A"	"r.(?)"	"p.(Gly950Arg)"	"41"	"missense"	"Gly772Arg"
"0000706331"	"00005455"	"99"	"2850"	"0"	"2850"	"0"	"c.2850dup"	"r.(?)"	"p.(Pro951Alafs*31)"	"41"	"frameshift"	""
"0000706332"	"00005455"	"99"	"2850"	"0"	"2850"	"0"	"c.2850dup"	"r.(?)"	"p.(Pro951Alafs*31)"	"41"	"frameshift"	""
"0000706333"	"00005455"	"99"	"2850"	"0"	"2850"	"0"	"c.2850dup"	"r.(?)"	"p.(Pro951Alafs*31)"	"41"	"frameshift"	""
"0000706334"	"00005455"	"99"	"2867"	"0"	"2867"	"0"	"c.2867G>C"	"r.?"	"p.(Gly956Ala)"	"41"	"missense"	"Gly778Ala"
"0000706335"	"00005455"	"99"	"2869"	"0"	"2869"	"0"	"c.2869C>T"	"r.(?)"	"p.(Gln957*)"	"41"	"nonsense"	"Gln779Stop"
"0000706336"	"00005455"	"99"	"2869"	"0"	"2869"	"0"	"c.2869C>T"	"r.(?)"	"p.(Gln957*)"	"41"	"nonsense"	"Gln779Stop"
"0000706337"	"00005455"	"99"	"2869"	"0"	"2869"	"0"	"c.2869C>T"	"r.(?)"	"p.(Gln957*)"	"41"	"nonsense"	"Gln779Stop"
"0000706338"	"00005455"	"99"	"2869"	"0"	"2869"	"0"	"c.2869C>T"	"r.(?)"	"p.(Gln957*)"	"41"	"nonsense"	"Gln779Stop"
"0000706339"	"00005455"	"99"	"2870"	"0"	"2873"	"0"	"c.2870_2873del"	"r.(?)"	"p.(Gln957Leufs*150)"	"41"	"frameshift"	""
"0000706340"	"00005455"	"99"	"2873"	"0"	"2873"	"0"	"c.2873G>T"	"r.(?)"	"p.(Arg958Leu)"	"41"	"missense"	"Arg780Leu"
"0000706341"	"00005455"	"97"	"2873"	"0"	"2873"	"0"	"c.2873G>T"	"r.?"	"p.(Arg958Leu)"	"41"	"missense"	"Arg780Leu"
"0000706342"	"00005455"	"99"	"2877"	"0"	"2877"	"0"	"c.2877del"	"r.(?)"	"p.(Val960Trpfs*148)"	"41"	"frameshift"	""
"0000706343"	"00005455"	"99"	"2881"	"0"	"2881"	"0"	"c.2881del"	"r.(?)"	"p.(Val961Serfs*147)"	"41"	"frameshift"	""
"0000706344"	"00005455"	"99"	"2885"	"0"	"2885"	"0"	"c.2885G>A"	"r.(?)"	"p.(Gly962Asp)"	"41"	"missense"	"Gly784Asp"
"0000706345"	"00005455"	"95"	"2908"	"0"	"2911"	"0"	"c.2908_2911del"	"r.?"	"p.(Arg970Alafs*137)"	"41"	"frameshift"	""
"0000706346"	"00005455"	"99"	"2918"	"0"	"2927"	"0"	"c.2918_2927del"	"r.(?)"	"p.(Pro973Leufs*132)"	"41"	"frameshift"	""
"0000706347"	"00005455"	"99"	"2921"	"0"	"2921"	"0"	"c.2921G>A"	"r.(?)"	"p.(Gly974Asp)"	"41"	"missense"	"Gly796Asp"
"0000706348"	"00005455"	"99"	"2921"	"0"	"2921"	"0"	"c.2921G>C"	"r.(?)"	"p.(Gly974Ala)"	"41"	"missense"	"Gly796Ala"
"0000706349"	"00005455"	"99"	"2921"	"0"	"2921"	"0"	"c.2921G>C"	"r.(?)"	"p.(Gly974Ala)"	"41"	"missense"	"Gly796Ala"
"0000706350"	"00005455"	"99"	"2921"	"0"	"2921"	"0"	"c.2921G>C"	"r.(?)"	"p.(Gly974Ala)"	"41"	"missense"	"Gly796Ala"
"0000706351"	"00005455"	"99"	"2921"	"0"	"2921"	"0"	"c.2921G>C"	"r.(?)"	"p.(Gly974Ala)"	"41"	"missense"	"Gly796Ala"
"0000706352"	"00005455"	"99"	"2930"	"0"	"2930"	"0"	"c.2930G>A"	"r.(?)"	"p.(Gly977Asp)"	"41"	"missense"	"Gly799Asp"
"0000706353"	"00005455"	"35"	"2932"	"0"	"2932"	"0"	"c.2932C>T"	"r.(?)"	"p.(Pro978Ser)"	"41"	"missense"	"Pro800Ser"
"0000706354"	"00005455"	"99"	"2934"	"0"	"2934"	"0"	"c.2934del"	"r.(?)"	"p.(Ser979Leufs*129)"	"41"	"frameshift"	""
"0000706355"	"00005455"	"99"	"2934"	"0"	"2934"	"0"	"c.2934del"	"r.(?)"	"p.(Ser979Leufs*129)"	"41"	"frameshift"	""
"0000706356"	"00005455"	"99"	"2935"	"0"	"2935"	"0"	"c.2935del"	"r.(?)"	"p.(Ser979Leufs*129)"	"41"	"frameshift"	""
"0000706357"	"00005455"	"99"	"2937"	"2"	"2937"	"2"	"c.2937+2T>A"	"r.spl?"	"p.?"	"41i"	"splicing affected?"	""
"0000706358"	"00005455"	"99"	"2937"	"4"	"2937"	"4"	"c.2937+4A>C"	"r.spl?"	"p.?"	"41i"	"splicing affected?"	""
"0000706359"	"00005455"	"95"	"3036"	"0"	"3045"	"2"	"c.3036_3045+2del"	"r.[(2938_3045del,3029_3045del)]"	"p.[(Gly980_Glu1015del,Glu1011Glyfs*19)]"	"41_41i"	"splicing affected?"	""
"0000706360"	"00005455"	"99"	"2939"	"0"	"2939"	"0"	"c.2939G>T"	"r.(?)"	"p.(Gly980Val)"	"42"	"missense"	"Gly802Val"
"0000706361"	"00005455"	"99"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Gln985*)"	"42"	"nonsense"	"Gln807Stop"
"0000706362"	"00005455"	"99"	"2956"	"0"	"2956"	"0"	"c.2956G>A"	"r.(?)"	"p.(Gly986Ser)"	"42"	"missense"	""
"0000706363"	"00005455"	"99"	"2972"	"0"	"2972"	"0"	"c.2972del"	"r.(?)"	"p.(Ser991Metfs*117)"	"42"	"frameshift"	""
"0000706364"	"00005455"	"55"	"2981"	"0"	"2981"	"0"	"c.2981G>A"	"r.(?)"	"p.(Arg994His)"	"42"	"missense"	"Arg816His"
"0000706365"	"00005455"	"95"	"2985"	"0"	"2985"	"0"	"c.2985del"	"r.(?)"	"p.(Pro997Leufs*111)"	"42"	"frameshift"	""
"0000706366"	"00005455"	"99"	"2990"	"0"	"2990"	"0"	"c.2990del"	"r.(?)"	"p.(Pro997Leufs*111)"	"42"	"frameshift"	""
"0000706367"	"00005455"	"99"	"2990"	"0"	"2990"	"0"	"c.2990del"	"r.(?)"	"p.(Pro997Leufs*111)"	"42"	"frameshift"	""
"0000706368"	"00005455"	"99"	"2991"	"0"	"2991"	"0"	"c.2991del"	"r.(?)"	"p.(Gly998Valfs*110)"	"42"	"frameshift"	""
"0000706369"	"00005455"	"99"	"2991"	"0"	"2991"	"0"	"c.2991del"	"r.(?)"	"p.(Gly998Valfs*110)"	"42"	"frameshift"	""
"0000706370"	"00005455"	"99"	"2991"	"0"	"2991"	"0"	"c.2991del"	"r.(?)"	"p.(Gly998Valfs*110)"	"42"	"frameshift"	""
"0000706371"	"00005455"	"99"	"2991"	"0"	"2991"	"0"	"c.2991del"	"r.(?)"	"p.(Gly998Valfs*110)"	"42"	"frameshift"	""
"0000706372"	"00005455"	"99"	"3001"	"0"	"3001"	"0"	"c.3001G>T"	"r.(?)"	"p.(Gly1001Cys)"	"42"	"missense"	"Gly823Cys"
"0000706373"	"00005455"	"99"	"3001"	"0"	"3001"	"0"	"c.3001G>T"	"r.(?)"	"p.(Gly1001Cys)"	"42"	"missense"	"Gly823Cys"
"0000706374"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003Leufs*105)"	"42"	"frameshift"	""
"0000706375"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003Leufs*105)"	"42"	"frameshift"	""
"0000706376"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003Leufs*105)"	"42"	"frameshift"	""
"0000706377"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003Leufs*105)"	"42"	"frameshift"	""
"0000706378"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003Leufs*105)"	"42"	"frameshift"	""
"0000706379"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003Leufs*105)"	"42"	"frameshift"	""
"0000706380"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003Leufs*105)"	"42"	"frameshift"	""
"0000706381"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008dup"	"r.(?)"	"p.(Gly1004Trpfs*8)"	"42"	"frameshift"	""
"0000706382"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008dup"	"r.(?)"	"p.(Gly1004Trpfs*8)"	"42"	"frameshift"	""
"0000706383"	"00005455"	"99"	"3008"	"0"	"3008"	"0"	"c.3008dup"	"r.(?)"	"p.(Gly1004Trpfs*8)"	"42"	"frameshift"	""
"0000706384"	"00005455"	"99"	"3026"	"0"	"3026"	"0"	"c.3026del"	"r.(?)"	"p.(Pro1009Leufs*99)"	"42"	"frameshift"	""
"0000706385"	"00005455"	"99"	"3026"	"0"	"3026"	"0"	"c.3026del"	"r.(?)"	"p.(Pro1009Leufs*99)"	"42"	"frameshift"	""
"0000706386"	"00005455"	"99"	"3027"	"0"	"3027"	"0"	"c.3027del"	"r.(?)"	"p.(Gly1010Valfs*98)"	"42"	"frameshift"	""
"0000706387"	"00005455"	"99"	"3028"	"0"	"3028"	"0"	"c.3028G>A"	"r.(?)"	"p.(Gly1010Ser)"	"42"	"missense"	"Gly832Ser"
"0000706388"	"00005455"	"33"	"3033"	"0"	"3033"	"0"	"c.3033A>T"	"r.(?)"	"p.(Glu1011Asp)"	"42"	"missense"	""
"0000706389"	"00005455"	"99"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	"42"	"missense"	"Gly835Glu"
"0000706390"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706391"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706392"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706393"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706394"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706395"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706396"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706397"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706398"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706399"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706400"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706401"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706402"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706403"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706404"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706405"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706406"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706407"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706408"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706409"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706410"	"00005455"	"99"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	"42"	"missense"	"Arg836Cys"
"0000706411"	"00005455"	"99"	"3045"	"1"	"3045"	"1"	"c.3045+1G>A"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706412"	"00005455"	"99"	"3045"	"1"	"3045"	"1"	"c.3045+1G>A"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706413"	"00005455"	"33"	"3046"	"-6"	"3046"	"-5"	"c.3046-6_3046-5dup"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706414"	"00005455"	"99"	"3046"	"-2"	"3046"	"-2"	"c.3046-2A>G"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706415"	"00005455"	"99"	"3046"	"-1"	"3046"	"-1"	"c.3046-1G>A"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706416"	"00005455"	"99"	"3046"	"-1"	"3046"	"-1"	"c.3046-1G>T"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706417"	"00005455"	"99"	"3046"	"-1"	"3046"	"-1"	"c.3046-1G>T"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706418"	"00005455"	"99"	"3046"	"-1"	"3046"	"-1"	"c.3046-1G>T"	"r.spl?"	"p.?"	"42i"	"splicing affected?"	""
"0000706419"	"00005455"	"99"	"3046"	"0"	"3046"	"0"	"c.3046G>C"	"r.(?)"	"p.(Gly1016Arg)"	"43"	"missense"	"Gly838Arg"
"0000706420"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065del"	"r.(?)"	"p.(Gly1022Valfs*86)"	"43"	"frameshift"	""
"0000706421"	"00005455"	"99"	"3064"	"0"	"3064"	"0"	"c.3064G>A"	"r.(?)"	"p.(Gly1022Ser)"	"43"	"missense"	"Gly844Ser"
"0000706422"	"00005455"	"99"	"3064"	"0"	"3064"	"0"	"c.3064G>A"	"r.(?)"	"p.(Gly1022Ser)"	"43"	"missense"	"Gly844Ser"
"0000706423"	"00005455"	"99"	"3064"	"0"	"3064"	"0"	"c.3064G>A"	"r.(?)"	"p.(Gly1022Ser)"	"43"	"missense"	"Gly844Ser"
"0000706424"	"00005455"	"95"	"3064"	"0"	"3064"	"0"	"c.3064G>A"	"r.?"	"p.(Gly1022Ser)"	"43"	"missense"	"Gly844Ser"
"0000706425"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>C"	"r.(?)"	"p.(Gly1022Ala)"	"43"	"missense"	"Gly844Ala"
"0000706426"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706427"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706428"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706429"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706430"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706431"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706432"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706433"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706434"	"00005455"	"99"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"43"	"missense"	"Gly844Val"
"0000706435"	"00005455"	"99"	"3070"	"0"	"3071"	"0"	"c.3070_3071delinsG"	"r.(?)"	"p.(Pro1024Valfs*84)"	"43"	"frameshift"	""
"0000706436"	"00005455"	"99"	"3073"	"0"	"3073"	"0"	"c.3073G>A"	"r.(?)"	"p.(Gly1025Arg)"	"43"	"missense"	"Gly847Arg"
"0000706437"	"00005455"	"99"	"3073"	"0"	"3073"	"0"	"c.3073G>A"	"r.(?)"	"p.(Gly1025Arg)"	"43"	"missense"	"Gly847Arg"
"0000706438"	"00005455"	"99"	"3074"	"0"	"3074"	"0"	"c.3074del"	"r.(?)"	"p.(Gly1025Aspfs*83)"	"43"	"frameshift"	""
"0000706439"	"00005455"	"99"	"3074"	"0"	"3074"	"0"	"c.3074del"	"r.(?)"	"p.(Gly1025Aspfs*83)"	"43"	"frameshift"	""
"0000706440"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706441"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706442"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706443"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706444"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706445"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706446"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706447"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706448"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706449"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706450"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706451"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706452"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706453"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706454"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706455"	"00005455"	"95"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.?"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706456"	"00005455"	"99"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.?"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706457"	"00005455"	"95"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	"43"	"nonsense"	"Arg848Stop"
"0000706458"	"00005455"	"99"	"3079"	"0"	"3079"	"0"	"c.3079del"	"r.(?)"	"p.(Asp1027ThrfsX81)"	"43"	"frameshift"	""
"0000706459"	"00005455"	"99"	"3082"	"0"	"3082"	"0"	"c.3082G>A"	"r.(?)"	"p.(Gly1028Ser)"	"43"	"missense"	"Gly850Ser"
"0000706460"	"00005455"	"99"	"3106"	"0"	"3106"	"0"	"c.3106C>T"	"r.(?)"	"p.(Arg1036Cys)"	"44"	"missense"	"Arg858Cys"
"0000706461"	"00005455"	"99"	"3114"	"0"	"3114"	"0"	"c.3114del"	"r.(?)"	"p.(Thr1039Profs*69)"	"44"	"frameshift"	""
"0000706462"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706463"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706464"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706465"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706466"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706467"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706468"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706469"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706470"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706471"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706472"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706473"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706474"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706475"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706476"	"00005455"	"59"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706477"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706478"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706479"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706480"	"00005455"	"95"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706481"	"00005455"	"95"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.?"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706482"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.?"	"p.(Gly1040Ser)"	"44"	"missense"	"Gly862Ser"
"0000706483"	"00005455"	"99"	"3118"	"0"	"3118"	"0"	"c.3118G>C"	"r.(?)"	"p.(Gly1040Arg)"	"44"	"missense"	"Gly862Arg"
"0000706484"	"00005455"	"99"	"3124"	"0"	"3134"	"0"	"c.3124_3134del"	"r.(?)"	"p.(Ala1042Trpfs*20)"	"44"	"frameshift"	""
"0000706485"	"00005455"	"99"	"3129"	"0"	"3137"	"0"	"c.3129_3137del"	"r.(?)"	"p.(Pro1044_Gly1046del)"	"44"	"deletion"	""
"0000706486"	"00005455"	"99"	"3132"	"0"	"3140"	"0"	"c.3132_3140del"	"r.(?)"	"p.(Pro1045_Ala1047del)"	"44"	"deletion"	""
"0000706487"	"00005455"	"99"	"3132"	"0"	"3140"	"0"	"c.3132_3140del"	"r.(?)"	"p.(Pro1045_Ala1047del)"	"44"	"deletion"	""
"0000706488"	"00005455"	"99"	"3135"	"0"	"3135"	"0"	"c.3135del"	"r.(?)"	"p.(Gly1046Valfs*62)"	"44"	"frameshift"	""
"0000706489"	"00005455"	"99"	"3136"	"0"	"3136"	"0"	"c.3136G>A"	"r.(?)"	"p.(Gly1046Ser)"	"44"	"missense"	"Gly868Ser"
"0000706490"	"00005455"	"99"	"3136"	"0"	"3136"	"0"	"c.3136G>A"	"r.(?)"	"p.(Gly1046Ser)"	"44"	"missense"	"Gly868Ser"
"0000706491"	"00005455"	"99"	"3136"	"0"	"3136"	"0"	"c.3136G>A"	"r.(?)"	"p.(Gly1046Ser)"	"44"	"missense"	"Gly868Ser"
"0000706492"	"00005455"	"99"	"3136"	"0"	"3136"	"0"	"c.3136G>A"	"r.(?)"	"p.(Gly1046Ser)"	"44"	"missense"	"Gly868Ser"
"0000706493"	"00005455"	"99"	"3136"	"0"	"3136"	"0"	"c.3136G>T"	"r.(?)"	"p.(Gly1046Cys)"	"44"	"missense"	"Gly868Cys"
"0000706494"	"00005455"	"99"	"3136"	"0"	"3136"	"0"	"c.3136G>T"	"r.(?)"	"p.(Gly1046Cys)"	"44"	"missense"	"Gly868Cys"
"0000706495"	"00005455"	"99"	"3136"	"0"	"3136"	"0"	"c.3136G>T"	"r.(?)"	"p.(Gly1046Cys)"	"44"	"missense"	"Gly868Cys"
"0000706496"	"00005455"	"99"	"3145"	"0"	"3145"	"0"	"c.3145G>A"	"r.(?)"	"p.(Gly1049Ser)"	"44"	"missense"	"Gly871Ser"
"0000706497"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	""
"0000706498"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	"Ala875_Gly877del"
"0000706499"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158dup"	"r.(?)"	"p.(Ala1053_Gly1055dup)"	"44"	"duplication"	"p.Ala875_Gly878dup"
"0000706500"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	"Ala875_Gly877del"
"0000706501"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	"Ala875_Gly877del"
"0000706502"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	"Ala875_Gly877del"
"0000706503"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	"Ala875_Gly877del"
"0000706504"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	"Ala875_Gly877del"
"0000706505"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158dup"	"r.(?)"	"p.(Ala1053_Gly1055dup)"	"44"	"duplication"	"Pro875_Ala877dup"
"0000706506"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158dup"	"r.(?)"	"p.(Ala1053_Gly1055dup)"	"44"	"duplication"	"Pro875_Ala877dup"
"0000706507"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158dup"	"r.(?)"	"p.(Ala1053_Gly1055dup)"	"44"	"duplication"	"Pro875_Ala877dup"
"0000706508"	"00005455"	"99"	"3150"	"0"	"3158"	"0"	"c.3150_3158dup"	"r.(?)"	"p.(Ala1053_Gly1055dup)"	"44"	"duplication"	"Pro875_Ala877dup"
"0000706509"	"00005455"	"99"	"3154"	"0"	"3154"	"0"	"c.3154G>A"	"r.(?)"	"p.(Gly1052Ser)"	"44"	"missense"	"Gly874Ser"
"0000706510"	"00005455"	"99"	"3155"	"0"	"3155"	"0"	"c.3155G>A"	"r.(?)"	"p.(Gly1052Asp)"	"44"	"missense"	"Gly874Asp"
"0000706511"	"00005455"	"99"	"3156"	"0"	"3164"	"0"	"c.3156_3164del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	""
"0000706512"	"00005455"	"99"	"3156"	"0"	"3164"	"0"	"c.3156_3164del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"44"	"deletion"	""
"0000706513"	"00005455"	"99"	"3158"	"0"	"3159"	"0"	"c.3158_3159insTGGTGGTCC"	"r.(?)"	"p.(Ala1053_Pro1054insGlyGlyPro)"	"44"	"insertion"	""
"0000706514"	"00005455"	"99"	"3162"	"0"	"3162"	"0"	"c.3162del"	"r.(?)"	"p.(Gly1055Alafs*53)"	"44"	"frameshift"	""
"0000706515"	"00005455"	"99"	"3162"	"0"	"3162"	"0"	"c.3162del"	"r.(?)"	"p.(Gly1055Alafs*53)"	"44"	"frameshift"	""
"0000706516"	"00005455"	"99"	"3162"	"0"	"3162"	"0"	"c.3162del"	"r.(?)"	"p.(Gly1055Alafs*53)"	"44"	"frameshift"	""
"0000706517"	"00005455"	"99"	"3162"	"0"	"3162"	"0"	"c.3162del"	"r.(?)"	"p.(Gly1055Alafs*53)"	"44"	"frameshift"	""
"0000706518"	"00005455"	"99"	"3164"	"0"	"3164"	"0"	"c.3164G>A"	"r.(?)"	"p.(Gly1055Asp)"	"44"	"missense"	"Gly877Asp"
"0000706519"	"00005455"	"99"	"3168"	"0"	"3168"	"0"	"c.3168dup"	"r.(?)"	"p.(Val1057Argfs*9)"	"44"	"frameshift"	""
"0000706520"	"00005455"	"99"	"3172"	"0"	"3172"	"0"	"c.3172G>A"	"r.(?)"	"p.(Gly1058Ser)"	"44"	"missense"	"Gly880Ser"
"0000706521"	"00005455"	"99"	"3172"	"0"	"3172"	"0"	"c.3172G>A"	"r.(?)"	"p.(Gly1058Ser)"	"44"	"missense"	"Gly880Ser"
"0000706522"	"00005455"	"99"	"3172"	"0"	"3172"	"0"	"c.3172G>A"	"r.(?)"	"p.(Gly1058Ser)"	"44"	"missense"	"Gly880Ser"
"0000706523"	"00005455"	"99"	"3172"	"0"	"3172"	"0"	"c.3172G>A"	"r.?"	"p.(Gly1058Ser)"	"44"	"missense"	"Gly880Ser"
"0000706524"	"00005455"	"99"	"3178"	"0"	"3178"	"0"	"c.3178del"	"r.?"	"p.(Ala1060Leufs*48)"	"44"	"frameshift"	"p.(Ala882Leufs*48)"
"0000706525"	"00005455"	"99"	"3181"	"0"	"3181"	"0"	"c.3181G>A"	"r.(?)"	"p.(Gly1061Ser)"	"44"	"missense"	"Gly883Ser"
"0000706526"	"00005455"	"99"	"3181"	"0"	"3181"	"0"	"c.3181G>A"	"r.(?)"	"p.(Gly1061Ser)"	"44"	"missense"	"Gly883Ser"
"0000706527"	"00005455"	"99"	"3182"	"0"	"3182"	"0"	"c.3182G>A"	"r.(?)"	"p.(Gly1061Asp)"	"44"	"missense"	"Gly883Asp"
"0000706528"	"00005455"	"99"	"3191"	"0"	"3191"	"0"	"c.3191G>C"	"r.(?)"	"p.(Gly1064Ala)"	"44"	"missense"	"Gly886Ala"
"0000706529"	"00005455"	"97"	"3195"	"0"	"3195"	"0"	"c.3195T>G"	"r.(?)"	"p.(Asp1065Glu)"	"44"	"missense"	"Asp887Glu"
"0000706530"	"00005455"	"97"	"3195"	"0"	"3195"	"0"	"c.3195T>G"	"r.(?)"	"p.(Asp1065Glu)"	"44"	"missense"	"Asp887Glu"
"0000706531"	"00005455"	"97"	"3195"	"0"	"3195"	"0"	"c.3195T>G"	"r.(?)"	"p.(Asp1065Glu)"	"44"	"missense"	"Asp887Glu"
"0000706532"	"00005455"	"99"	"3196"	"0"	"3196"	"0"	"c.3196C>T"	"r.(?)"	"p.(Arg1066Cys)"	"44"	"missense"	"Arg888Cys"
"0000706533"	"00005455"	"97"	"3196"	"0"	"3196"	"0"	"c.3196C>T"	"r.(?)"	"p.(Arg1066Cys)"	"44"	"missense"	"Arg888Cys"
"0000706534"	"00005455"	"99"	"3201"	"0"	"3201"	"0"	"c.3201del"	"r.(?)"	"p.(Glu1068Argfs*40)"	"44"	"frameshift"	""
"0000706535"	"00005455"	"99"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.3200_3207del"	"p.(Glu1068Serfs*25)"	"44i"	"frameshift"	""
"0000706536"	"00005455"	"99"	"3207"	"1"	"3207"	"1"	"c.3207+1G>T"	"r.spl?"	"p.?"	"44i"	"splicing affected?"	""
"0000706537"	"00005455"	"99"	"3207"	"1"	"3207"	"2"	"c.3207+1_3207+2del"	"r.spl?"	"p.?"	"44i"	"splicing affected?"	""
"0000706538"	"00005455"	"99"	"3207"	"5"	"3207"	"5"	"c.3207+5G>A"	"r.spl?"	"p.?"	"44i"	"splicing affected?"	""
"0000706539"	"00005455"	"99"	"3207"	"5"	"3207"	"5"	"c.3207+5G>T"	"r.spl?"	"p.?"	"44i"	"splicing affected?"	""
"0000706540"	"00005455"	"73"	"3208"	"-6"	"3208"	"-6"	"c.3208-6C>T"	"r.(=)"	"p.(=)"	"44i"	"splicing affected?"	""
"0000706541"	"00005455"	"99"	"3208"	"-2"	"3208"	"-2"	"c.3208-2A>C"	"r.spl?"	"p.?"	"44i"	"splicing affected?"	""
"0000706542"	"00005455"	"59"	"3208"	"-2"	"3213"	"0"	"c.3208-2_3213del"	"r.spl?"	"p.?"	"44i"	"splicing affected?"	""
"0000706543"	"00005455"	"99"	"3208"	"-1"	"3208"	"-1"	"c.3208-1G>A"	"r.spl?"	"p.?"	"44i"	"splicing affected?"	""
"0000706544"	"00005455"	"99"	"3208"	"0"	"3208"	"0"	"c.3208G>A"	"r.(?)"	"p.(Gly1070Ser)"	"45"	"frameshift"	""
"0000706545"	"00005455"	"99"	"3208"	"0"	"3208"	"0"	"c.3208G>A"	"r.(?)"	"p.(Gly1070Ser)"	"45"	"frameshift"	""
"0000706546"	"00005455"	"99"	"3217"	"0"	"3217"	"0"	"c.3217G>A"	"r.(?)"	"p.(Gly1073Ser)"	"45"	"missense"	"Gly895Ser"
"0000706547"	"00005455"	"11"	"3223"	"0"	"3223"	"0"	"c.3223G>A"	"r.(?)"	"p.(Ala1075Thr)"	"45"	"missense"	"Ala897Thr"
"0000706548"	"00005455"	"93"	"3223"	"0"	"3223"	"0"	"c.3223G>A"	"r.?"	"p.(Ala1075Thr)"	"45"	"missense"	"Ala897Thr"
"0000706549"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706550"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706551"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706552"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706553"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706554"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706555"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706556"	"00005455"	"59"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706557"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706558"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706559"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706560"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706561"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706562"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706563"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706564"	"00005455"	"95"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.?"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706565"	"00005455"	"95"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.?"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706566"	"00005455"	"95"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.?"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706567"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706568"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.?"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706569"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706570"	"00005455"	"95"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"45"	"missense"	"Gly898Ser"
"0000706571"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>T"	"r.(?)"	"p.(Gly1076Cys)"	"45"	"missense"	"Gly898Cys"
"0000706572"	"00005455"	"99"	"3226"	"0"	"3226"	"0"	"c.3226G>T"	"r.(?)"	"p.(Gly1076Cys)"	"45"	"missense"	"Gly898Cys"
"0000706573"	"00005455"	"99"	"3233"	"0"	"3236"	"0"	"c.3233_3236del"	"r.(?)"	"p.(Val1078Alafs*29)"	"45"	"frameshift"	""
"0000706574"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706575"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706576"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706577"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706578"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706579"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706580"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706581"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706582"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706583"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706584"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706585"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706586"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706587"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706588"	"00005455"	"59"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706589"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706590"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706591"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706592"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706593"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706594"	"00005455"	"95"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.?"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706595"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"45"	"missense"	"Gly901Ser"
"0000706596"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>C"	"r.(?)"	"p.(Gly1079Arg)"	"45"	"missense"	"Gly901Arg"
"0000706597"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>C"	"r.?"	"p.(Gly1079Arg)"	"45"	"missense"	"Gly901Arg"
"0000706598"	"00005455"	"99"	"3239"	"0"	"3239"	"0"	"c.3239del"	"r.(?)"	"p.(Pro1080Leufs*28)"	"45"	"frameshift"	""
"0000706599"	"00005455"	"99"	"3241"	"0"	"3241"	"0"	"c.3241del"	"r.(?)"	"p.(Val1081Leufs*27)"	"45"	"frameshift"	""
"0000706600"	"00005455"	"11"	"3243"	"0"	"3243"	"0"	"c.3243T>C"	"r.(?)"	"p.(=)"	"45"	"silent"	""
"0000706601"	"00005455"	"99"	"3244"	"0"	"3244"	"0"	"c.3244G>T"	"r.(?)"	"p.(Gly1082Cys)"	"45"	"missense"	"Gly904Cys"
"0000706602"	"00005455"	"91"	"3247"	"0"	"3247"	"0"	"c.3247G>A"	"r.(?)"	"p.(Ala1083Thr)"	"45"	"missense"	"Ala865Thr"
"0000706603"	"00005455"	"99"	"3247"	"0"	"3247"	"0"	"c.3247G>A"	"r.(?)"	"p.(Ala1083Thr)"	"45"	"missense"	"Ala865Thr"
"0000706604"	"00005455"	"99"	"3253"	"0"	"3253"	"0"	"c.3253G>A"	"r.(?)"	"p.(Gly1085Ser)"	"45"	"missense"	"Gly907Ser"
"0000706605"	"00005455"	"95"	"3256"	"0"	"3259"	"0"	"c.3256_3259delinsGC"	"r.?"	"p.(Pro1086Alafs*9)"	"45"	"frameshift"	""
"0000706606"	"00005455"	"99"	"3261"	"1"	"3261"	"1"	"c.3261+1G>A"	"r.spl?"	"p.?"	"45i"	"splicing affected?"	""
"0000706607"	"00005455"	"79"	"3369"	"5"	"3369"	"5"	"c.3369+5G>C"	"r.spl?"	"p.?"	"45i"	"splicing affected?"	""
"0000706608"	"00005455"	"99"	"3262"	"0"	"3262"	"0"	"c.3262G>T"	"r.(?)"	"p.(Gly1088*)"	"46"	"nonsense"	"Gly910*"
"0000706609"	"00005455"	"99"	"3262"	"0"	"3262"	"0"	"c.3262G>T"	"r.(?)"	"p.(Gly1088*)"	"46"	"nonsense"	"Gly910*"
"0000706610"	"00005455"	"99"	"3263"	"0"	"3263"	"0"	"c.3263G>A"	"r.(?)"	"p.(Gly1088Glu)"	"46"	"missense"	"Gly910Glu"
"0000706611"	"00005455"	"99"	"3263"	"0"	"3263"	"0"	"c.3263G>C"	"r.(?)"	"p.(Gly1088Ala)"	"46"	"missense"	"Gly910Ala"
"0000706612"	"00005455"	"99"	"3263"	"0"	"3263"	"0"	"c.3263G>C"	"r.(?)"	"p.(Gly1088Ala)"	"46"	"missense"	"Gly910Ala"
"0000706613"	"00005455"	"95"	"3268"	"0"	"3268"	"0"	"c.3268del"	"r.?"	"p.(Gln1090Lysfs*18)"	"46"	"frameshift"	""
"0000706614"	"00005455"	"99"	"3271"	"0"	"3271"	"0"	"c.3271G>A"	"r.(?)"	"p.(Gly1091Ser)"	"46"	"missense"	"Gly913Ser"
"0000706615"	"00005455"	"99"	"3271"	"0"	"3271"	"0"	"c.3271G>A"	"r.(?)"	"p.(Gly1091Ser)"	"46"	"missense"	"Gly913Ser"
"0000706616"	"00005455"	"99"	"3277"	"0"	"3277"	"0"	"c.3277C>T"	"r.(?)"	"p.(Arg1093Cys)"	"46"	"missense"	"Arg915Cys"
"0000706617"	"00005455"	"99"	"3277"	"0"	"3277"	"0"	"c.3277del"	"r.(?)"	"p.(Arg1093Valfs*15)"	"46"	"frameshift"	""
"0000706618"	"00005455"	"95"	"3277"	"0"	"3277"	"0"	"c.3277dup"	"r.?"	"p.(Arg1093Profs*3)"	"46"	"frameshift"	""
"0000706619"	"00005455"	"11"	"3278"	"0"	"3278"	"0"	"c.3278G>A"	"r.(?)"	"p.(Arg1093His)"	"46"	"missense"	""
"0000706620"	"00005455"	"99"	"3280"	"0"	"3280"	"0"	"c.3280G>A"	"r.(?)"	"p.(Gly1094Ser)"	"46"	"missense"	"Gly916Ser"
"0000706621"	"00005455"	"99"	"3285"	"0"	"3286"	"0"	"c.3285_3286dup"	"r.(?)"	"p.(Lys1096GlnfsX3)"	"46"	"frameshift"	""
"0000706622"	"00005455"	"99"	"3290"	"0"	"3290"	"0"	"c.3290G>T"	"r.(?)"	"p.(Gly1097Val)"	"46"	"missense"	"Gly919Val"
"0000706623"	"00005455"	"99"	"3299"	"0"	"3299"	"0"	"c.3299G>A"	"r.(?)"	"p.(Gly1100Asp)"	"46"	"missense"	"Gly922Asp"
"0000706624"	"00005455"	"99"	"3299"	"0"	"3299"	"0"	"c.3299G>A"	"r.(?)"	"p.(Gly1100Asp)"	"46"	"missense"	"Gly922Asp"
"0000706625"	"00005455"	"79"	"3304"	"0"	"3304"	"0"	"c.3304C>T"	"r.(?)"	"p.(Gln1102*)"	"46"	"nonsense"	"Gln924*"
"0000706626"	"00005455"	"99"	"3304"	"0"	"3304"	"0"	"c.3304C>T"	"r.(?)"	"p.(Gln1102*)"	"46"	"nonsense"	"Gln924Stop"
"0000706627"	"00005455"	"99"	"3307"	"0"	"3314"	"0"	"c.3307_3314del"	"r.(?)"	"p.(Gly1103Argfs*23)"	"46"	"frameshift"	""
"0000706628"	"00005455"	"99"	"3309"	"0"	"3309"	"0"	"c.3309del"	"r.(?)"	"p.(Asp1104Thrfs*4)"	"46"	"frameshift"	""
"0000706629"	"00005455"	"99"	"3313"	"0"	"3313"	"0"	"c.3313del"	"r.(?)"	"p.(Arg1105Glufs*3)"	"46"	"frameshift"	""
"0000706630"	"00005455"	"99"	"3313"	"0"	"3313"	"0"	"c.3313del"	"r.(?)"	"p.(Arg1105Glufs*3)"	"46"	"frameshift"	""
"0000706631"	"00005455"	"99"	"3317"	"0"	"3317"	"0"	"c.3317G>C"	"r.(?)"	"p.(Gly1106Ala)"	"46"	"missense"	"Gly928Ala"
"0000706632"	"00005455"	"73"	"3319"	"0"	"3319"	"0"	"c.3319A>T"	"r.(?)"	"p.(Ile1107Leu)"	"46"	"missense"	"Ile929Leu"
"0000706633"	"00005455"	"99"	"3325"	"0"	"3325"	"0"	"c.3325G>A"	"r.(?)"	"p.(Gly1109Ser)"	"46"	"missense"	"Gly931Ser"
"0000706634"	"00005455"	"99"	"3328"	"0"	"3328"	"0"	"c.3328del"	"r.?"	"p.(His1110Thrfs*129)"	"46"	"frameshift"	""
"0000706635"	"00005455"	"99"	"3349"	"0"	"3349"	"0"	"c.3349C>T"	"r.(?)"	"p.(Gln1117*)"	"46"	"nonsense"	"Gln939Stop"
"0000706636"	"00005455"	"99"	"3355"	"0"	"3360"	"0"	"c.3355_3360del"	"r.(?)"	"p.(Pro1119_Pro1120del)"	"46"	"deletion"	""
"0000706637"	"00005455"	"99"	"3360"	"0"	"3369"	"15"	"c.3360_3369+15del"	"r.spl?"	"p.?"	"46"	"splicing affected?"	""
"0000706638"	"00005455"	"99"	"3360"	"0"	"3360"	"0"	"c.3360del"	"r.(?)"	"p.(Gly1121Alafs*118)"	"46"	"frameshift"	""
"0000706639"	"00005455"	"99"	"3369"	"1"	"3369"	"1"	"c.3369+1G>A"	"r.spl?"	"p.?"	"46i"	"splicing affected?"	""
"0000706640"	"00005455"	"99"	"3369"	"1"	"3369"	"1"	"c.3369+1G>C"	"r.spl?"	"p.?"	"46i"	"splicing affected?"	""
"0000706641"	"00005455"	"99"	"3370"	"0"	"3370"	"0"	"c.3370G>T"	"r.(?)"	"p.(Gly1124Cys)"	"47"	"missense"	"Gly946Cys"
"0000706642"	"00005455"	"99"	"3380"	"0"	"3380"	"0"	"c.3380G>A"	"r.(?)"	"p.(Gly1127Asp)"	"47"	"missense"	""
"0000706643"	"00005455"	"99"	"3385"	"0"	"3385"	"0"	"c.3385C>T"	"r.(?)"	"p.(Gln1129*)"	"47"	"nonsense"	"Gln951Stop"
"0000706644"	"00005455"	"99"	"3398"	"0"	"3398"	"0"	"c.3398G>C"	"r.(?)"	"p.(Gly1133Ala  )"	"47"	"missense"	"Gly955Ala"
"0000706645"	"00005455"	"99"	"3398"	"0"	"3398"	"0"	"c.3398G>C"	"r.(?)"	"p.(Gly1133Ala  )"	"47"	"missense"	"Gly955Ala"
"0000706646"	"00005455"	"99"	"3399"	"0"	"3400"	"0"	"c.3399_3400del"	"r.(?)"	"p.(Ala1134Leufs*39)"	"47"	"frameshift"	""
"0000706647"	"00005455"	"99"	"3402"	"0"	"3402"	"0"	"c.3402del"	"r.(?)"	"p.(Ser1135LeufsX104)"	"47"	"frameshift"	""
"0000706648"	"00005455"	"99"	"3402"	"0"	"3402"	"0"	"c.3402del"	"r.(?)"	"p.(Ser1135LeufsX104)"	"47"	"frameshift"	""
"0000706649"	"00005455"	"95"	"3403"	"0"	"3403"	"0"	"c.3403T>G"	"r.?"	"p.(Ser1135Ala)"	"47"	"missense"	"Ser957Ala"
"0000706650"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706651"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706652"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706653"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706654"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706655"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706656"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706657"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706658"	"00005455"	"99"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141*)"	"47"	"nonsense"	"Arg963Stop"
"0000706659"	"00005455"	"11"	"3422"	"0"	"3422"	"0"	"c.3422G>A"	"r.(?)"	"p.(Arg1141Gln)"	"47"	"missense"	"Arg963Gln"
"0000706660"	"00005455"	"99"	"3423"	"1"	"3423"	"1"	"c.3423+1G>A"	"r.spl?"	"p.?"	"47i"	"splicing affected?"	""
"0000706661"	"00005455"	"99"	"3423"	"2"	"3423"	"2"	"c.3423+2T>A"	"r.spl?"	"p.?"	"47i"	"splicing affected?"	""
"0000706662"	"00005455"	"59"	"3423"	"5"	"3423"	"5"	"c.3423+5G>A"	"r.spl?"	"p.?"	"47i"	"splicing affected?"	""
"0000706663"	"00005455"	"99"	"3424"	"-6"	"3424"	"-6"	"c.3424-6C>G"	"r.(=)"	"p.(=)"	"47i"	"splicing affected?"	""
"0000706664"	"00005455"	"99"	"3424"	"-6"	"3424"	"-6"	"c.3424-6C>G"	"r.(=)"	"p.(=)"	"47i"	"splicing affected?"	""
"0000706665"	"00005455"	"99"	"3424"	"-3"	"3424"	"-3"	"c.3424-3C>G"	"r.spl?"	"p.?"	"47i"	"splicing affected?"	""
"0000706666"	"00005455"	"79"	"3424"	"-1"	"3424"	"-1"	"c.3424-1G>A"	"r.spl?"	"p.?"	"47i"	"splicing affected?"	""
"0000706667"	"00005455"	"99"	"3424"	"-1"	"3424"	"-1"	"c.3424-1G>C"	"r.spl?"	"p.?"	"47i"	"splicing affected?"	""
"0000706668"	"00005455"	"99"	"3450"	"0"	"3450"	"0"	"c.3450dup"	"r.?"	"p.(Gly1151Trpfs*23)"	"47"	"frameshift"	"p.(Gly973Trpfs*23)"
"0000706669"	"00005455"	"99"	"3531"	"1"	"3531"	"1"	"c.3531+1G>C"	"r.spl?"	"p.?"	"47i"	"splicing affected?"	""
"0000706670"	"00005455"	"99"	"3424"	"0"	"3424"	"0"	"c.3424G>A"	"r.(?)"	"p.(Gly1142Ser)"	"48"	"missense"	"Gly964Ser"
"0000706671"	"00005455"	"99"	"3424"	"0"	"3424"	"0"	"c.3424G>A"	"r.(?)"	"p.(Gly1142Ser)"	"48"	"missense"	"Gly964Ser"
"0000706672"	"00005455"	"97"	"3433"	"0"	"3433"	"0"	"c.3433G>A"	"r.(?)"	"p.(Gly1145Ser)"	"48"	"missense"	""
"0000706673"	"00005455"	"99"	"3433"	"0"	"3433"	"0"	"c.3433G>T"	"r.(?)"	"p.(Gly1145Cys)"	"48"	"missense"	"Gly967Cys"
"0000706674"	"00005455"	"99"	"3433"	"0"	"3433"	"0"	"c.3433G>T"	"r.(?)"	"p.(Gly1145Cys)"	"48"	"missense"	"Gly967Cys"
"0000706675"	"00005455"	"99"	"3434"	"0"	"3434"	"0"	"c.3434G>A"	"r.(?)"	"p.(Gly1145Asp)"	"48"	"missense"	"Gly967Asp"
"0000706676"	"00005455"	"99"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Gly1151Ser)"	"48"	"missense"	"Gly973Ser"
"0000706677"	"00005455"	"99"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Gly1151Ser)"	"48"	"missense"	"Gly973Ser"
"0000706678"	"00005455"	"99"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Gly1151Ser)"	"48"	"missense"	"Gly973Ser"
"0000706679"	"00005455"	"99"	"3452"	"0"	"3452"	"0"	"c.3452G>T"	"r.(?)"	"p.(Gly1151Val)"	"48"	"missense"	"Gly973Val"
"0000706680"	"00005455"	"11"	"3459"	"0"	"3459"	"0"	"c.3459T>C"	"r.(?)"	"p.(=)"	"48"	"silent"	""
"0000706681"	"00005455"	"99"	"3460"	"0"	"3460"	"0"	"c.3460G>A"	"r.(?)"	"p.(Gly1154Arg)"	"48"	"missense"	"Gly976Arg"
"0000706682"	"00005455"	"99"	"3470"	"0"	"3470"	"0"	"c.3470G>A"	"r.(?)"	"p.(Gly1157Asp)"	"48"	"missense"	"Gly979Asp"
"0000706683"	"00005455"	"95"	"3470"	"0"	"3470"	"0"	"c.3470G>A"	"r.?"	"p.(Gly1157Asp)"	"48"	"missense"	"Gly979Asp"
"0000706684"	"00005455"	"99"	"3477"	"0"	"3477"	"0"	"c.3477del"	"r.(?)"	"p.(Gly1160Alafs*79)"	"48"	"frameshift"	""
"0000706685"	"00005455"	"99"	"3480"	"0"	"3497"	"0"	"c.3480_3497del"	"r.(?)"	"p.(Ile1162_Pro1167del)"	"48"	"deletion"	""
"0000706686"	"00005455"	"99"	"3489"	"0"	"3489"	"0"	"c.3489del"	"r.(?)"	"p.(Pro1165Leufs*74)"	"48"	"frameshift"	""
"0000706687"	"00005455"	"99"	"3494"	"0"	"3494"	"0"	"c.3494del"	"r.(?)"	"p.(Pro1165Leufs*74)"	"48"	"frameshift"	""
"0000706688"	"00005455"	"99"	"3495"	"0"	"3495"	"0"	"c.3495del"	"r.(?)"	"p.(Gly1166ValfsX73)"	"48"	"frameshift"	""
"0000706689"	"00005455"	"99"	"3496"	"0"	"3496"	"0"	"c.3496G>T"	"r.(?)"	"p.(Gly1166Cys)"	"48"	"missense"	"Gly988Cys"
"0000706690"	"00005455"	"99"	"3496"	"0"	"3496"	"0"	"c.3496G>T"	"r.(?)"	"p.(Gly1166Cys)"	"48"	"missense"	"Gly988Cys"
"0000706691"	"00005455"	"99"	"3496"	"0"	"3496"	"0"	"c.3496G>T"	"r.(?)"	"p.(Gly1166Cys)"	"48"	"missense"	"Gly988Cys"
"0000706692"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706693"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706694"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706695"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706696"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706697"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706698"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706699"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706700"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706701"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706702"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706703"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706704"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706705"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706706"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706707"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706708"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706709"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706710"	"00005455"	"95"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.?"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706711"	"00005455"	"95"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.?"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706712"	"00005455"	"95"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.?"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706713"	"00005455"	"95"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.?"	"p.(Gly1169Ser)"	"48"	"missense"	"Gly991Ser"
"0000706714"	"00005455"	"99"	"3505"	"0"	"3505"	"0"	"c.3505G>T"	"r.(?)"	"p.(Gly1169Cys)"	"48"	"missense"	"Gly991Cys"
"0000706715"	"00005455"	"99"	"3514"	"0"	"3514"	"0"	"c.3514G>C"	"r.(?)"	"p.(Gly1172Arg)"	"48"	"missense"	"Gly994Arg"
"0000706716"	"00005455"	"99"	"3515"	"0"	"3515"	"0"	"c.3515G>A"	"r.(?)"	"p.(Gly1172Asp)"	"48"	"missense"	"Gly994Asp"
"0000706717"	"00005455"	"97"	"3521"	"0"	"3521"	"0"	"c.3521C>T"	"r.(?)"	"p.(Ala1174Val)"	"48"	"missense"	"Ala996Val"
"0000706718"	"00005455"	"97"	"3521"	"0"	"3521"	"0"	"c.3521C>T"	"r.(?)"	"p.(Ala1174Val)"	"48"	"missense"	"Ala996Val"
"0000706719"	"00005455"	"95"	"3521"	"0"	"3521"	"0"	"c.3521C>T"	"r.?"	"p.(Ala1174Val)"	"48"	"missense"	"Ala996Val"
"0000706720"	"00005455"	"95"	"3521"	"0"	"3521"	"0"	"c.3521C>T"	"r.?"	"p.(Ala1174Val)"	"48"	"missense"	"Ala996Val"
"0000706721"	"00005455"	"99"	"3523"	"0"	"3523"	"0"	"c.3523G>A"	"r.(?)"	"p.(Gly1175Ser)"	"48"	"missense"	"Gly997Ser"
"0000706722"	"00005455"	"99"	"3523"	"0"	"3523"	"0"	"c.3523G>T"	"r.(?)"	"p.(Gly1175Cys)"	"48"	"missense"	"Gly997Cys"
"0000706723"	"00005455"	"59"	"3523"	"0"	"3523"	"0"	"c.3523G>T"	"r.(?)"	"p.(Gly1175Cys)"	"48"	"missense"	"Gly997Cys"
"0000706724"	"00005455"	"99"	"3524"	"0"	"3524"	"0"	"c.3524del"	"r.(?)"	"p.(Gly1175Valfs*64)"	"48"	"frameshift"	""
"0000706725"	"00005455"	"99"	"3524"	"0"	"3524"	"0"	"c.3524G>C"	"r.(?)"	"p.(Gly1175Ala)"	"48"	"missense"	"Gly997Ala"
"0000706726"	"00005455"	"11"	"3529"	"0"	"3529"	"0"	"c.3529G>A"	"r.(?)"	"p.(Val1177Ile)"	"48"	"missense"	"Val999Ile"
"0000706727"	"00005455"	"99"	"3531"	"1"	"3531"	"1"	"c.3531+1G>A"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706728"	"00005455"	"95"	"3531"	"1"	"3531"	"1"	"c.3531+1G>T"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706729"	"00005455"	"99"	"3531"	"1"	"3531"	"1"	"c.3531+1G>T"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706730"	"00005455"	"95"	"3531"	"2"	"3531"	"2"	"c.3531+2T>C"	"r.?"	"-"	"48i"	"splicing affected?"	""
"0000706731"	"00005455"	"99"	"3531"	"5"	"3531"	"5"	"c.3531+5G>A"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706732"	"00005455"	"99"	"3531"	"5"	"3531"	"5"	"c.3531+5G>A"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706733"	"00005455"	"95"	"3531"	"5"	"3531"	"5"	"c.3531+5G>A"	"r.?"	"-"	"48i"	"splicing affected?"	""
"0000706734"	"00005455"	"99"	"3532"	"-3"	"3532"	"-1"	"c.3532-3_3532-1del"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706735"	"00005455"	"99"	"3532"	"-2"	"3532"	"-2"	"c.3532-2A>G"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706736"	"00005455"	"99"	"3532"	"-2"	"3532"	"-2"	"c.3532-2A>G"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706737"	"00005455"	"99"	"3532"	"-2"	"3532"	"-2"	"c.3532-2A>G"	"r.spl?"	"p.?"	"48i"	"splicing affected?"	""
"0000706738"	"00005455"	"99"	"3718"	"0"	"3718"	"0"	"c.3718C>T"	"r.(?)"	"p.(Gln1240*)"	"48"	"nonsense"	""
"0000706739"	"00005455"	"99"	"3532"	"0"	"3532"	"0"	"c.3532G>A"	"r.(?)"	"p.(Gly1178Ser)"	"49"	"missense"	"Gly1000Ser"
"0000706740"	"00005455"	"99"	"3533"	"0"	"3533"	"0"	"c.3533del"	"r.(?)"	"p.(Gly1178Valfs*61)"	"49"	"frameshift"	""
"0000706741"	"00005455"	"99"	"3533"	"0"	"3533"	"0"	"c.3533G>T"	"r.(?)"	"p.(Gly1178Val)"	"49"	"missense"	"Gly1000Val"
"0000706742"	"00005455"	"95"	"3533"	"0"	"3542"	"0"	"c.3533_3542del"	"r.?"	"p.(Gly1178Alafs*58)"	"49"	"frameshift"	""
"0000706743"	"00005455"	"99"	"3540"	"0"	"3540"	"0"	"c.3540dup"	"r.(?)"	"p.(Gly1181Argfs*39)"	"49"	"frameshift"	""
"0000706744"	"00005455"	"99"	"3541"	"0"	"3541"	"0"	"c.3541G>A"	"r.(?)"	"p.(Gly1181Ser)"	"49"	"missense"	"Gly1003Ser"
"0000706745"	"00005455"	"99"	"3541"	"0"	"3541"	"0"	"c.3541G>A"	"r.(?)"	"p.(Gly1181Ser)"	"49"	"missense"	"Gly1003Ser"
"0000706746"	"00005455"	"99"	"3541"	"0"	"3541"	"0"	"c.3541G>A"	"r.(?)"	"p.(Gly1181Ser)"	"49"	"missense"	"Gly1003Ser"
"0000706747"	"00005455"	"99"	"3541"	"0"	"3541"	"0"	"c.3541G>A"	"r.(?)"	"p.(Gly1181Ser)"	"49"	"missense"	"Gly1003Ser"
"0000706748"	"00005455"	"99"	"3541"	"0"	"3541"	"0"	"c.3541G>A"	"r.(?)"	"p.(Gly1181Ser)"	"49"	"missense"	"Gly1003Ser"
"0000706749"	"00005455"	"35"	"3548"	"0"	"3548"	"0"	"c.3548C>T"	"r.(?)"	"p.(Pro1183Leu)"	"49"	"missense"	""
"0000706750"	"00005455"	"99"	"3551"	"0"	"3551"	"0"	"c.3551G>T"	"r.(?)"	"p.(Gly1184Val)"	"49"	"missense"	"Gly1006Val"
"0000706751"	"00005455"	"95"	"3556"	"0"	"3556"	"0"	"c.3556C>G"	"r.(?)"	"p.(Pro1186Ala)"	"49"	"missense"	"Pro1008Ala"
"0000706752"	"00005455"	"99"	"3559"	"0"	"3559"	"0"	"c.3559G>A"	"r.(?)"	"p.(Gly1187Ser)"	"49"	"missense"	"Gly1009Ser"
"0000706753"	"00005455"	"99"	"3559"	"0"	"3559"	"0"	"c.3559G>A"	"r.(?)"	"p.(Gly1187Ser)"	"49"	"missense"	"Gly1009Ser"
"0000706754"	"00005455"	"99"	"3559"	"0"	"3559"	"0"	"c.3559G>C"	"r.(?)"	"p.(Gly1187Arg)"	"49"	"missense"	"Gly1009Arg"
"0000706755"	"00005455"	"95"	"3559"	"0"	"3559"	"0"	"c.3559G>T"	"r.?"	"p.(Gly1187Cys)"	"49"	"missense"	"Gly1009Cys"
"0000706756"	"00005455"	"95"	"3559"	"0"	"3559"	"0"	"c.3559G>T"	"r.?"	"p.(Gly1187Cys)"	"49"	"missense"	"Gly1009Cys"
"0000706757"	"00005455"	"99"	"3559"	"0"	"3559"	"0"	"c.3559G>T"	"r.?"	"p.(Gly1187Cys)"	"49"	"missense"	"Gly1009Cys"
"0000706758"	"00005455"	"99"	"3564"	"0"	"3572"	"0"	"c.3564_3572dup"	"r.(?)"	"p.(Gly1190_Pro1192dup)"	"49"	"duplication"	""
"0000706759"	"00005455"	"99"	"3560"	"0"	"3560"	"0"	"c.3560del"	"r.(?)"	"p.(Gly1187Valfs*52)"	"49"	"frameshift"	""
"0000706760"	"00005455"	"99"	"3560"	"0"	"3560"	"0"	"c.3560G>T"	"r.(?)"	"p.(Gly1187Val)"	"49"	"missense"	"Gly1009Val"
"0000706761"	"00005455"	"99"	"3566"	"0"	"3566"	"0"	"c.3566del"	"r.(?)"	"p.(Pro1189Leufs*50)"	"49"	"frameshift"	""
"0000706762"	"00005455"	"95"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.(?)"	"p.(Gly1190Valfs*49)"	"49"	"frameshift"	""
"0000706763"	"00005455"	"95"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.(?)"	"p.(Gly1190Valfs*49)"	"49"	"frameshift"	""
"0000706764"	"00005455"	"99"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.(?)"	"p.(Gly1190Valfs*49)"	"49"	"frameshift"	""
"0000706765"	"00005455"	"99"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.(?)"	"p.(Gly1190Valfs*49)"	"49"	"frameshift"	""
"0000706766"	"00005455"	"99"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.(?)"	"p.(Gly1190Valfs*49)"	"49"	"frameshift"	""
"0000706767"	"00005455"	"95"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.?"	"p.(Gly1190Valfs*49)"	"49"	"frameshift"	""
"0000706768"	"00005455"	"99"	"3569"	"0"	"3569"	"0"	"c.3569G>A"	"r.(?)"	"p.(Gly1190Asp   )"	"49"	"missense"	"Gly1012Asp"
"0000706769"	"00005455"	"99"	"3580"	"0"	"3581"	"0"	"c.3580_3581del"	"r.(?)"	"p.(Ala1194Trpfs*25)"	"49"	"frameshift"	""
"0000706770"	"00005455"	"99"	"3583"	"0"	"3583"	"0"	"c.3583G>T"	"r.(?)"	"p.(Gly1195Cys)"	"49"	"missense"	""
"0000706771"	"00005455"	"99"	"3584"	"0"	"3584"	"0"	"c.3584del"	"r.(?)"	"p.(Gly1195ValfsX44)"	"49"	"frameshift"	""
"0000706772"	"00005455"	"99"	"3589"	"0"	"3590"	"0"	"c.3589_3590del"	"r.(?)"	"p.(Asp1197Leufs*22)"	"49"	"frameshift"	""
"0000706773"	"00005455"	"99"	"3595"	"0"	"3595"	"0"	"c.3595A>G"	"r.(?)"	"p.(Ser1199Gly)"	"49"	"missense"	""
"0000706774"	"00005455"	"99"	"3607"	"0"	"3607"	"0"	"c.3607C>T"	"r.(?)"	"p.(Gln1203*)"	"49"	"nonsense"	""
"0000706775"	"00005455"	"99"	"3607"	"0"	"3607"	"0"	"c.3607C>T"	"r.(?)"	"p.(Gln1203*)"	"49"	"nonsense"	""
"0000706776"	"00005455"	"99"	"3607"	"0"	"3607"	"0"	"c.3607C>T"	"r.(?)"	"p.(Gln1203*)"	"49"	"nonsense"	""
"0000706777"	"00005455"	"99"	"3616"	"0"	"3616"	"0"	"c.3616C>T"	"r.(?)"	"p.(Gln1206*)"	"49"	"nonsense"	""
"0000706778"	"00005455"	"79"	"3638"	"0"	"3638"	"0"	"c.3638del"	"r.?"	"p.(Gly1213Alafs*26)"	"49"	"frameshift"	""
"0000706779"	"00005455"	"99"	"3646"	"0"	"3646"	"0"	"c.3646del"	"r.(?)"	"p.(Tyr1216Thrfs*23)"	"49"	"splicing affected?"	""
"0000706780"	"00005455"	"99"	"3646"	"0"	"3646"	"0"	"c.3646del"	"r.(?)"	"p.(Tyr1216Thrfs*23)"	"49"	"splicing affected?"	""
"0000706781"	"00005455"	"75"	"3647"	"0"	"3647"	"0"	"c.3647A>G"	"r.(?)"	"p.(Tyr1216Cys)"	"49"	"missense"	""
"0000706782"	"00005455"	"99"	"3652"	"0"	"3652"	"0"	"c.3652G>A"	"r.(?)"	"p.(Ala1218Thr)"	"49"	"missense"	""
"0000706783"	"00005455"	"99"	"3652"	"0"	"3652"	"0"	"c.3652G>A"	"r.(?)"	"p.(Ala1218Thr)"	"49"	"missense"	""
"0000706784"	"00005455"	"99"	"3652"	"0"	"3652"	"0"	"c.3652G>A"	"r.(?)"	"p.(Ala1218Thr)"	"49"	"missense"	""
"0000706785"	"00005455"	"95"	"3652"	"0"	"3652"	"0"	"c.3652G>A"	"r.(?)"	"p.(Ala1218Thr)"	"49"	"missense"	""
"0000706786"	"00005455"	"99"	"3654"	"0"	"3662"	"0"	"c.3654_3662del"	"r.(?)"	"p.(Asp1219_Ala1221del)"	"49"	"deletion"	""
"0000706787"	"00005455"	"99"	"3653"	"0"	"3653"	"0"	"c.3653del"	"r.(?)"	"p.(Ala1218ValfsX21)"	"49"	"frameshift"	""
"0000706788"	"00005455"	"99"	"3655"	"0"	"3655"	"0"	"c.3655G>A"	"r.(?)"	"p.(Asp1219Asn)"	"49"	"missense"	""
"0000706789"	"00005455"	"99"	"3655"	"0"	"3655"	"0"	"c.3655G>A"	"r.?"	"p.(Asp1219Asn)"	"49"	"missense"	""
"0000706790"	"00005455"	"75"	"3655"	"0"	"3655"	"0"	"c.3655G>T"	"r.(?)"	"p.(Asp1219Tyr)"	"49"	"missense"	"Asp1041Tyr"
"0000706791"	"00005455"	"99"	"3657"	"0"	"3657"	"0"	"c.3657T>G"	"r.(?)"	"p.(Asp1219Glu)"	"49"	"missense"	""
"0000706792"	"00005455"	"77"	"3688"	"0"	"3688"	"0"	"c.3688G>A"	"r.(?)"	"p.(Glu1230Lys)"	"49"	"missense"	""
"0000706793"	"00005455"	"99"	"3699"	"0"	"3699"	"0"	"c.3699dup"	"r.(?)"	"p.(Thr1234Hisfs*28)"	"49"	"frameshift"	""
"0000706794"	"00005455"	"99"	"3727"	"0"	"3727"	"0"	"c.3727G>T"	"r.(?)"	"p.(Glu1243*)"	"49"	"nonsense"	"Gly1065Stop"
"0000706795"	"00005455"	"95"	"3736"	"0"	"3736"	"0"	"c.3736C>T"	"r.?"	"p.(Arg1246Trp)"	"49"	"missense"	"Arg1068Trp"
"0000706796"	"00005455"	"99"	"3748"	"0"	"3752"	"0"	"c.3748_3752dup"	"r.(?)"	"p.(Ser1251Argfs*82)"	"49"	"frameshift"	""
"0000706797"	"00005455"	"95"	"3749"	"0"	"3749"	"0"	"c.3749del"	"r.(?)"	"p.(Gly1250Alafs*81)"	"49"	"frameshift"	""
"0000706798"	"00005455"	"51"	"3752"	"0"	"3752"	"0"	"c.3752G>C"	"r.(?)"	"p.(Ser1251Thr)"	"49"	"missense"	""
"0000706799"	"00005455"	"11"	"3755"	"0"	"3755"	"0"	"c.3755G>A"	"r.(?)"	"p.(Arg1252His)"	"49"	"missense"	""
"0000706800"	"00005455"	"99"	"3758"	"0"	"3758"	"0"	"c.3758dup"	"r.(?)"	"p.(Asn1254Glufs*8)"	"49"	"frameshift"	""
"0000706801"	"00005455"	"99"	"3759"	"0"	"3759"	"0"	"c.3759del"	"r.(?)"	"p.(Asn1254Thrfs*77)"	"49"	"frameshift"	""
"0000706802"	"00005455"	"93"	"3766"	"0"	"3766"	"0"	"c.3766G>A"	"r.(?)"	"p.(Ala1256Thr)"	"49"	"missense"	""
"0000706803"	"00005455"	"93"	"3766"	"0"	"3766"	"0"	"c.3766G>A"	"r.(?)"	"p.(Ala1256Thr)"	"49"	"missense"	""
"0000706804"	"00005455"	"95"	"3766"	"0"	"3766"	"0"	"c.3766G>A"	"r.?"	"p.(Ala1256Thr)"	"49"	"missense"	"Ala1078Thr"
"0000706805"	"00005455"	"75"	"3766"	"0"	"3766"	"0"	"c.3766G>A"	"r.?"	"p.(Ala1256Thr)"	"49"	"missense"	""
"0000706806"	"00005455"	"99"	"3782"	"0"	"3794"	"0"	"c.3782_3794del"	"r.(?)"	"p.(Asp1261AlafsX66)"	"49"	"frameshift"	""
"0000706807"	"00005455"	"35"	"3785"	"0"	"3785"	"0"	"c.3785T>G"	"r.(?)"	"p.(Leu1262Arg)"	"49"	"missense"	""
"0000706808"	"00005455"	"99"	"3788"	"0"	"3788"	"0"	"c.3788del"	"r.(?)"	"p.(Lys1263Argfs*68)"	"49"	"frameshift"	""
"0000706809"	"00005455"	"99"	"3788"	"0"	"3788"	"0"	"c.3788del"	"r.(?)"	"p.(Lys1263Argfs*68)"	"49"	"frameshift"	""
"0000706810"	"00005455"	"99"	"3790"	"0"	"3790"	"0"	"c.3790A>G"	"r.[3790a>g;3790_3814del]"	"p.([Met1264Val;Met1264Glufs*59])"	"49"	"other/complex"	"Met1086Val"
"0000706811"	"00005455"	"99"	"3790"	"0"	"3790"	"0"	"c.3790A>G"	"r.[3790a>g;3790_3814del]"	"p.([Met1264Val;Met1264Glufs*59])"	"49"	"other/complex"	"Met1086Val"
"0000706812"	"00005455"	"99"	"3806"	"0"	"3806"	"0"	"c.3806G>A"	"r.(?)"	"p.(Trp1269*)"	"49"	"nonsense"	"Trp1091Stop"
"0000706813"	"00005455"	"99"	"3806"	"0"	"3806"	"0"	"c.3806G>A"	"r.(?)"	"p.(Trp1269*)"	"49"	"nonsense"	"Trp1091Stop"
"0000706814"	"00005455"	"99"	"3807"	"0"	"3807"	"0"	"c.3807G>A"	"r.(?)"	"p.(Trp1269*)"	"49"	"nonsense"	"Trp1091Stop"
"0000706815"	"00005455"	"99"	"3807"	"0"	"3807"	"0"	"c.3807G>A"	"r.(?)"	"p.(Trp1269*)"	"49"	"nonsense"	"Trp1091Stop"
"0000706816"	"00005455"	"95"	"3807"	"0"	"3807"	"0"	"c.3807G>A"	"r.(?)"	"p.(Trp1269*)"	"49"	"nonsense"	"Trp1091Stop"
"0000706817"	"00005455"	"95"	"3815"	"-2"	"3815"	"-2"	"c.3815-2A>G"	"r.?"	"p.(?)"	"49i"	"splicing affected?"	""
"0000706818"	"00005455"	"95"	"3815"	"-1"	"3815"	"-1"	"c.3815-1G>A"	"r.spl?"	"p.?"	"49i"	"splicing affected?"	""
"0000706819"	"00005455"	"99"	"3741"	"0"	"3747"	"0"	"c.3741_3747del"	"r.(?)"	"p.(Ser1247Argfs*82)"	"50"	"frameshift"	""
"0000706820"	"00005455"	"99"	"3765"	"0"	"3765"	"0"	"c.3765del"	"r.(?)"	"p.(Ala1256Profs*75)"	"50"	"frameshift"	""
"0000706821"	"00005455"	"99"	"3766"	"0"	"3766"	"0"	"c.3766del"	"r.(?)"	"p.(Ala1256Profs*75)"	"50"	"frameshift"	""
"0000706822"	"00005455"	"99"	"3803"	"0"	"3806"	"0"	"c.3803_3806del"	"r.(?)"	"p.(Asp1268Glyfs*62)"	"50"	"frameshift"	""
"0000706823"	"00005455"	"99"	"3815"	"0"	"3815"	"0"	"c.3815G>T"	"r.(?)"	"p.(Gly1272Val)"	"50"	"missense"	""
"0000706824"	"00005455"	"99"	"3815"	"0"	"3815"	"0"	"c.3815G>T"	"r.(?)"	"p.(Gly1272Val)"	"50"	"missense"	""
"0000706825"	"00005455"	"99"	"3815"	"0"	"3815"	"0"	"c.3815G>T"	"r.(?)"	"p.(Gly1272Val)"	"50"	"missense"	""
"0000706826"	"00005455"	"99"	"3815"	"0"	"3815"	"0"	"c.3815G>T"	"r.(?)"	"p.(Gly1272Val)"	"50"	"missense"	""
"0000706827"	"00005455"	"99"	"3815"	"0"	"3815"	"0"	"c.3815G>T"	"r.?"	"p.(Gly1272Val)"	"50"	"missense"	""
"0000706828"	"00005455"	"99"	"3823"	"0"	"3823"	"0"	"c.3823T>A"	"r.(?)"	"p.(Trp1275Arg)"	"50"	"missense"	""
"0000706829"	"00005455"	"99"	"3824"	"0"	"3824"	"0"	"c.3824G>A"	"r.(?)"	"p.(Trp1275*)"	"50"	"nonsense"	"Trp1097Stop"
"0000706830"	"00005455"	"99"	"3825"	"0"	"3825"	"0"	"c.3825G>A"	"r.(?)"	"p.(Trp1275*)"	"50"	"nonsense"	""
"0000706831"	"00005455"	"99"	"3825"	"0"	"3825"	"0"	"c.3825G>T"	"r.(?)"	"p.(Trp1275Cys)"	"50"	"missense"	""
"0000706832"	"00005455"	"99"	"3829"	"0"	"3829"	"0"	"c.3829G>C"	"r.(?)"	"p.(Asp1277His)"	"50"	"missense"	"Asp1099His"
"0000706833"	"00005455"	"97"	"3831"	"0"	"3831"	"0"	"c.3831C>G"	"r.(?)"	"p.(Asp1277Glu)"	"50"	"missense"	""
"0000706834"	"00005455"	"57"	"3835"	"0"	"3835"	"0"	"c.3835A>C"	"r.(?)"	"p.(Asn1279His)"	"50"	"missense"	""
"0000706835"	"00005455"	"99"	"3838"	"0"	"3838"	"0"	"c.3838C>T"	"r.(?)"	"p.(Gln1280*)"	"50"	"nonsense"	"Gln1102Stop"
"0000706836"	"00005455"	"99"	"3842"	"0"	"3842"	"0"	"c.3842G>T"	"r.(?)"	"p.(Gly1281Val)"	"50"	"missense"	""
"0000706837"	"00005455"	"77"	"3853"	"0"	"3853"	"0"	"c.3853G>A"	"r.(?)"	"p.(Asp1285Asn)"	"50"	"missense"	""
"0000706838"	"00005455"	"95"	"3855"	"0"	"3855"	"0"	"c.3855T>G"	"r.?"	"p.(Asp1285Glu)"	"50"	"missense"	""
"0000706839"	"00005455"	"99"	"3857"	"0"	"3857"	"0"	"c.3857C>A"	"r.(?)"	"p.(Ala1286Asp)"	"50"	"missense"	""
"0000706840"	"00005455"	"99"	"3865"	"0"	"3865"	"0"	"c.3865G>A"	"r.(?)"	"p.(Val1289Ile)"	"50"	"missense"	""
"0000706841"	"00005455"	"99"	"3881"	"0"	"3881"	"0"	"c.3881A>T"	"r.?"	"p.(Glu1294Val)"	"50"	"missense"	"p.(Glu1116Val)"
"0000706842"	"00005455"	"99"	"3882"	"0"	"3891"	"0"	"c.3882_3891del"	"r.?"	"p.(Thr1295Profs*33)"	"50"	"frameshift"	"p.(Thr1117Profs*33)"
"0000706843"	"00005455"	"95"	"3885"	"0"	"3885"	"0"	"c.3885del"	"r.?"	"p.(Gly1296Valfs*35)"	"50"	"frameshift"	""
"0000706844"	"00005455"	"97"	"3893"	"0"	"3893"	"0"	"c.3893C>A"	"r.(?)"	"p.(Thr1298Asn)"	"50"	"missense"	""
"0000706845"	"00005455"	"99"	"3893"	"0"	"3893"	"0"	"c.3893C>T"	"r.(?)"	"p.(Thr1298Ile)"	"50"	"missense"	""
"0000706846"	"00005455"	"97"	"3893"	"0"	"3893"	"0"	"c.3893C>T"	"r.?"	"p.(Thr1298Ile)"	"50"	"missense"	""
"0000706847"	"00005455"	"99"	"3895"	"0"	"3895"	"0"	"c.3895T>C"	"r.(?)"	"p.(Cys1299Arg)"	"50"	"missense"	""
"0000706848"	"00005455"	"99"	"3897"	"0"	"3897"	"0"	"c.3897C>A"	"r.(?)"	"p.(Cys1299*)"	"50"	"nonsense"	""
"0000706849"	"00005455"	"99"	"3897"	"0"	"3897"	"0"	"c.3897C>A"	"r.(?)"	"p.(Cys1299*)"	"50"	"nonsense"	""
"0000706850"	"00005455"	"99"	"3897"	"0"	"3897"	"0"	"c.3897C>G"	"r.(?)"	"p.(Cys1299Trp)"	"50"	"missense"	"Cys1121Trp"
"0000706851"	"00005455"	"99"	"3897"	"0"	"3897"	"0"	"c.3897C>G"	"r.(?)"	"p.(Cys1299Trp)"	"50"	"missense"	"Cys1121Trp"
"0000706852"	"00005455"	"99"	"3897"	"0"	"3897"	"0"	"c.3897C>G"	"r.(?)"	"p.(Cys1299Trp)"	"50"	"missense"	"Cys1121Trp"
"0000706853"	"00005455"	"99"	"3897"	"0"	"3897"	"0"	"c.3897C>G"	"r.(?)"	"p.(Cys1299Trp)"	"50"	"missense"	"Cys1121Trp"
"0000706854"	"00005455"	"99"	"3910"	"0"	"3910"	"0"	"c.3910C>T"	"r.(?)"	"p.(Gln1304*)"	"50"	"nonsense"	"Gln1162Stop"
"0000706855"	"00005455"	"99"	"3910"	"0"	"3910"	"0"	"c.3910C>T"	"r.(?)"	"p.(Gln1304*)"	"50"	"nonsense"	"Gln1162Stop"
"0000706856"	"00005455"	"99"	"3925"	"0"	"3925"	"0"	"c.3925C>T"	"r.(?)"	"p.(Gln1309*)"	"50"	"nonsense"	"Gln1131Stop"
"0000706857"	"00005455"	"99"	"3925"	"0"	"3925"	"0"	"c.3925C>T"	"r.(?)"	"p.(Gln1309*)"	"50"	"nonsense"	"Gln1131Stop"
"0000706858"	"00005455"	"99"	"3925"	"0"	"3925"	"0"	"c.3925C>T"	"r.(?)"	"p.(Gln1309*)"	"50"	"nonsense"	"Gln1131Stop"
"0000706859"	"00005455"	"99"	"3925"	"0"	"3925"	"0"	"c.3925C>T"	"r.(?)"	"p.(Gln1309*)"	"50"	"nonsense"	"Gln1131Stop"
"0000706860"	"00005455"	"99"	"3935"	"0"	"3935"	"0"	"c.3935G>A"	"r.(?)"	"p.(Trp1312*)"	"50"	"nonsense"	"Trp1134Stop"
"0000706861"	"00005455"	"99"	"3936"	"0"	"3936"	"0"	"c.3936G>T"	"r.(?)"	"p.(Trp1312Cys)"	"50"	"missense"	"Trp1134Cys"
"0000706862"	"00005455"	"99"	"3967"	"0"	"3967"	"0"	"c.3967C>T"	"r.(?)"	"p.(His1323Tyr)"	"50"	"missense"	"His1145Tyr"
"0000706863"	"00005455"	"99"	"3969"	"0"	"3969"	"0"	"c.3969dup"	"r.(?)"	"p.(Val1324Cysfs*105)"	"50"	"frameshift"	""
"0000706864"	"00005455"	"99"	"3974"	"0"	"3974"	"0"	"c.3974G>A"	"r.(?)"	"p.(Trp1325*)"	"50"	"nonsense"	"Trp1147Stop"
"0000706865"	"00005455"	"99"	"3975"	"0"	"3975"	"0"	"c.3975G>A"	"r.(?)"	"p.(Trp1325*)"	"50"	"nonsense"	""
"0000706866"	"00005455"	"99"	"3987"	"0"	"3987"	"0"	"c.3987del"	"r.(?)"	"p.(Ser1329Argfs*2)"	"50"	"frameshift"	""
"0000706867"	"00005455"	"99"	"4005"	"1"	"4005"	"1"	"c.4005+1G>T"	"r.spl?"	"p.?"	"50i"	"splicing affected?"	""
"0000706868"	"00005455"	"99"	"4005"	"1"	"4005"	"1"	"c.4005+1G>T"	"r.spl?"	"p.?"	"50i"	"splicing affected?"	""
"0000706869"	"00005455"	"99"	"4006"	"-1"	"4006"	"-1"	"c.4006-1G>A"	"r.spl?"	"p.(Phe1336Valfs*72)"	"50i"	"splicing affected?"	""
"0000706870"	"00005455"	"99"	"4156"	"0"	"4156"	"0"	"c.4156A>T"	"r.(?)"	"p.(Lys1386*)"	"50"	"nonsense"	""
"0000706871"	"00005455"	"99"	"4008"	"0"	"4013"	"0"	"c.4008_4013del"	"r.(?)"	"p.(Glu1337_Tyr1338del)"	"51"	"deletion"	""
"0000706872"	"00005455"	"57"	"4009"	"0"	"4009"	"0"	"c.4009G>A"	"r.?"	"p.(Glu1337Lys)"	"51"	"missense"	"Glu1159Lys"
"0000706873"	"00005455"	"37"	"4009"	"0"	"4009"	"0"	"c.4009G>A"	"r.?"	"p.(Glu1337Lys)"	"51"	"missense"	"Glu1159Lys"
"0000706874"	"00005455"	"33"	"4009"	"0"	"4009"	"0"	"c.4009G>A"	"r.(?)"	"p.(Glu1337Lys)"	"51"	"missense"	"Glu1159Lys"
"0000706875"	"00005455"	"99"	"4009"	"0"	"4009"	"0"	"c.4009G>T"	"r.(?)"	"p.(Glu1337*)"	"51"	"nonsense"	""
"0000706876"	"00005455"	"95"	"4014"	"0"	"4014"	"0"	"c.4014T>A"	"r.?"	"p.(Tyr1338*)"	"51"	"nonsense"	"Tyr1160Stop"
"0000706877"	"00005455"	"99"	"4018"	"0"	"4018"	"0"	"c.4018G>A"	"r.(?)"	"p.(Gly1340Ser)"	"51"	"missense"	""
"0000706878"	"00005455"	"33"	"4018"	"0"	"4018"	"0"	"c.4018G>A"	"r.(?)"	"p.(Gly1340Ser)"	"51"	"missense"	""
"0000706879"	"00005455"	"59"	"4021"	"0"	"4021"	"0"	"c.4021C>T"	"r.(?)"	"p.(Gln1341*)"	"51"	"nonsense"	""
"0000706880"	"00005455"	"99"	"4021"	"0"	"4021"	"0"	"c.4021C>T"	"r.(?)"	"p.(Gln1341*)"	"51"	"nonsense"	""
"0000706881"	"00005455"	"99"	"4051"	"0"	"4051"	"0"	"c.4051C>T"	"r.(?)"	"p.(Gln1351*)"	"51"	"nonsense"	""
"0000706882"	"00005455"	"99"	"4054"	"0"	"4054"	"0"	"c.4054del"	"r.(?)"	"p.(Leu1352*)"	"51"	"nonsense"	"Leu1174Stop"
"0000706883"	"00005455"	"33"	"4067"	"0"	"4067"	"0"	"c.4067G>A"	"r.(?)"	"p.(Arg1356His)"	"51"	"missense"	""
"0000706884"	"00005455"	"99"	"4081"	"0"	"4081"	"0"	"c.4081G>A"	"r.(?)"	"p.(Glu1361Lys)"	"51"	"missense"	""
"0000706885"	"00005455"	"99"	"4092"	"0"	"4092"	"0"	"c.4092G>C"	"r.(?)"	"p.(Gln1346His)"	"51"	"missense"	""
"0000706886"	"00005455"	"57"	"4103"	"0"	"4103"	"0"	"c.4103A>G"	"r.?"	"p.(Tyr1368Cys)"	"51"	"missense"	""
"0000706887"	"00005455"	"99"	"4104"	"0"	"4104"	"0"	"c.4104C>G"	"r.(?)"	"p.(Tyr1368*)"	"51"	"nonsense"	""
"0000706888"	"00005455"	"99"	"4105"	"0"	"4105"	"0"	"c.4105del"	"r.(?)"	"p.(His1369Thrfs*58)"	"51"	"frameshift"	""
"0000706889"	"00005455"	"11"	"4113"	"0"	"4113"	"0"	"c.4113G>A"	"r.(?)"	"p.(=)"	"51"	"silent"	""
"0000706890"	"00005455"	"55"	"4135"	"0"	"4135"	"0"	"c.4135C>A"	"r.(?)"	"p.(Gln1379Lys)"	"51"	"missense"	""
"0000706891"	"00005455"	"53"	"4154"	"0"	"4154"	"0"	"c.4154A>G"	"r.(?)"	"p.(Lys1385Arg)"	"51"	"missense"	""
"0000706892"	"00005455"	"99"	"4160"	"0"	"4160"	"0"	"c.4160C>T"	"r.(?)"	"p.(Ala1387Val)"	"51"	"missense"	""
"0000706893"	"00005455"	"99"	"4160"	"0"	"4160"	"0"	"c.4160C>T"	"r.(?)"	"p.(Ala1387Val)"	"51"	"missense"	""
"0000706894"	"00005455"	"99"	"4163"	"0"	"4163"	"0"	"c.4163T>G"	"r.(?)"	"p.(Leu1388Arg)"	"51"	"missense"	"Leu1210Arg"
"0000706895"	"00005455"	"77"	"4166"	"0"	"4166"	"0"	"c.4166T>C"	"r.?"	"p.(Leu1389Pro)"	"51"	"missense"	"p.(Leu1211Pro)"
"0000706896"	"00005455"	"55"	"4171"	"0"	"4171"	"0"	"c.4171C>A"	"r.(?)"	"p.(Gln1391Lys)"	"51"	"missense"	""
"0000706897"	"00005455"	"11"	"4179"	"0"	"4179"	"0"	"c.4179C>T"	"r.(?)"	"p.(=)"	"51"	"silent"	""
"0000706898"	"00005455"	"55"	"4181"	"0"	"4181"	"0"	"c.4181A>G"	"r.(?)"	"p.(Asn1394Ser)"	"51"	"missense"	""
"0000706899"	"00005455"	"53"	"4181"	"0"	"4181"	"0"	"c.4181A>G"	"r.(?)"	"p.(Asn1394Ser)"	"51"	"missense"	""
"0000706900"	"00005455"	"97"	"4193"	"0"	"4193"	"0"	"c.4193T>G"	"r.(?)"	"p.(Ile1398Ser)"	"51"	"missense"	""
"0000706901"	"00005455"	"97"	"4229"	"0"	"4229"	"0"	"c.4229T>A"	"r.(?)"	"p.(Val1410Asp)"	"51"	"missense"	""
"0000706902"	"00005455"	"99"	"4229"	"0"	"4237"	"0"	"c.4229_4237del"	"r.(?)"	"p.(Val1410_Val1412del)"	"51"	"deletion"	""
"0000706903"	"00005455"	"99"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	"51"	"missense"	""
"0000706904"	"00005455"	"99"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	"51"	"missense"	""
"0000706905"	"00005455"	"99"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	"51"	"missense"	""
"0000706906"	"00005455"	"99"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	"51"	"missense"	""
"0000706907"	"00005455"	"59"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	"51"	"missense"	""
"0000706908"	"00005455"	"95"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	"51"	"missense"	""
"0000706909"	"00005455"	"99"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	"51"	"missense"	""
"0000706910"	"00005455"	"99"	"4238"	"0"	"4248"	"0"	"c.4238_4248dup"	"r.(?)"	"p.(Ser1417Metfs*14)"	"51"	"frameshift"	""
"0000706911"	"00005455"	"77"	"4239"	"0"	"4239"	"0"	"c.4239T>A"	"r.(?)"	"p.(Asp1413Glu)"	"51"	"missense"	""
"0000706912"	"00005455"	"95"	"4239"	"0"	"4239"	"0"	"c.4239T>A"	"r.?"	"p.(Asp1413Glu)"	"51"	"missense"	""
"0000706913"	"00005455"	"99"	"4243"	"0"	"4248"	"2"	"c.4243_4248+2delinsCA"	"r.spl?"	"p.?"	"51"	"splicing affected?"	""
"0000706914"	"00005455"	"97"	"4247"	"0"	"4247"	"0"	"c.4247del"	"r.(?)"	"p.(Thr1416Argfs*11)"	"51"	"frameshift"	""
"0000706915"	"00005455"	"99"	"4248"	"1"	"4248"	"1"	"c.4248+1G>A"	"r.?"	"-"	"51i"	"splicing affected?"	""
"0000706916"	"00005455"	"99"	"4249"	"-26"	"4249"	"-8"	"c.4249-26_4249-8del"	"r.spl"	"p.?"	"51i"	"splicing affected?"	""
"0000706917"	"00005455"	"99"	"4249"	"-4"	"4249"	"-2"	"c.4249-4_4249-2del"	"r.spl?"	"p.?"	"51i"	"splicing affected?"	""
"0000706918"	"00005455"	"95"	"4249"	"-3"	"4249"	"-2"	"c.4249-3_4249-2del"	"r.?"	"-"	"51i"	"splicing affected?"	""
"0000706919"	"00005455"	"51"	"4281"	"0"	"4281"	"0"	"c.4281T>C"	"r.(?)"	"p.(=)"	"51"	"silent"	""
"0000706920"	"00005455"	"51"	"4291"	"0"	"4291"	"0"	"c.4291A>C"	"r.(?)"	"p.(Thr1431Pro)"	"51"	"missense"	""
"0000706921"	"00005455"	"51"	"4296"	"0"	"4296"	"0"	"c.4296C>A"	"r.(?)"	"p.(=)"	"51"	"silent"	""
"0000706922"	"00005455"	"99"	"4249"	"0"	"4250"	"0"	"c.4249_4250del"	"r.(?)"	"p.(Thr1419Argfs*9)"	"51"	"frameshift"	""
"0000706923"	"00005455"	"11"	"4257"	"0"	"4257"	"0"	"c.4257C>T"	"r.(?)"	"p.(=)"	"51"	"silent"	""
"0000706924"	"00005455"	"99"	"4265"	"0"	"4265"	"0"	"c.4265G>A"	"r.(?)"	"p.(Trp1422*)"	"51"	"nonsense"	""
"0000706925"	"00005455"	"99"	"4274"	"0"	"4274"	"0"	"c.4274C>T"	"r.(?)"	"p.(Thr1425Ile)"	"51"	"missense"	""
"0000706926"	"00005455"	"99"	"4291"	"0"	"4291"	"0"	"c.4291dup"	"r.(?)"	"p.(Thr1431Asnfs*)"	"51"	"frameshift"	""
"0000706927"	"00005455"	"99"	"4292"	"0"	"4292"	"0"	"c.4292C>T"	"r.(?)"	"p.(Thr1431Ile)"	"51"	"missense"	""
"0000706928"	"00005455"	"99"	"4292"	"0"	"4292"	"0"	"c.4292C>T"	"r.(?)"	"p.(Thr1431Ile)"	"51"	"missense"	""
"0000706929"	"00005455"	"99"	"4292"	"0"	"4292"	"0"	"c.4292C>T"	"r.(?)"	"p.(Thr1431Ile)"	"51"	"missense"	""
"0000706930"	"00005455"	"99"	"4308"	"0"	"4309"	"0"	"c.4308_4309insA"	"r.(?)"	"p.(Leu1437Thrfs*114)"	"51"	"frameshift"	""
"0000706931"	"00005455"	"99"	"4308"	"0"	"4309"	"0"	"c.4308_4309insA"	"r.(?)"	"p.(Leu1437Thrfs*114)"	"51"	"frameshift"	""
"0000706932"	"00005455"	"99"	"4310"	"0"	"4310"	"0"	"c.4310T>A"	"r.(?)"	"p.(Leu1437Gln)"	"51"	"missense"	"Leu1259Gln"
"0000706933"	"00005455"	"51"	"4313"	"0"	"4313"	"0"	"c.4313C>G"	"r.(?)"	"p.(Pro1438Arg)"	"51"	"missense"	""
"0000706934"	"00005455"	"99"	"4316"	"0"	"4316"	"0"	"c.4316T>C"	"r.(?)"	"p.(Ile1439Thr)"	"51"	"missense"	""
"0000706935"	"00005455"	"99"	"4321"	"0"	"4321"	"0"	"c.4321G>C"	"r.(?)"	"p.(Asp1441His)"	"51"	"missense"	"Asp1263His"
"0000706936"	"00005455"	"95"	"4321"	"0"	"4321"	"0"	"c.4321G>C"	"r.?"	"p.(Asp1441His)"	"51"	"missense"	"Asp1263His"
"0000706937"	"00005455"	"99"	"4321"	"0"	"4321"	"0"	"c.4321G>T"	"r.(?)"	"p.(Asp1441Tyr)"	"51"	"missense"	"Asp1263Tyr"
"0000706938"	"00005455"	"99"	"4325"	"0"	"4325"	"0"	"c.4325T>G"	"r.(?)"	"p.(Val1442Gly)"	"51"	"missense"	""
"0000706939"	"00005455"	"99"	"4327"	"0"	"4333"	"0"	"c.4327_4333delinsCTGGA"	"r.(?)"	"p.(Ala1443Leufs*107)"	"51"	"frameshift"	""
"0000706940"	"00005455"	"99"	"4329"	"0"	"4340"	"0"	"c.4329_4340delinsAGACCAGGTC"	"r.(?)"	"p.(Pro1444Aspfs*106)"	"51"	"frameshift"	""
"0000706941"	"00005455"	"95"	"4330"	"0"	"4331"	"0"	"c.4330_4331insAAGGATGTGGCCC"	"r.?"	"p.(Pro1444Glnfs*111)"	"51"	"frameshift"	""
"0000706942"	"00005455"	"99"	"4331"	"0"	"4331"	"0"	"c.4331C>A"	"r.(?)"	"p.(Pro1444His)"	"51"	"missense"	""
"0000706943"	"00005455"	"99"	"4331"	"0"	"4365"	"0"	"c.4331_4365del"	"r.(?)"	"p.(Pro1444Leufs*95)"	"51"	"frameshift"	""
"0000706944"	"00005455"	"99"	"4332"	"0"	"4332"	"0"	"c.4332dup"	"r.(?)"	"p.(Asp1446Glyfs*105)"	"51"	"frameshift"	""
"0000706945"	"00005455"	"99"	"4332"	"0"	"4332"	"0"	"c.4332dup"	"r.(?)"	"p.(Asp1446Glyfs*105)"	"51"	"frameshift"	""
"0000706946"	"00005455"	"99"	"4332"	"0"	"4332"	"0"	"c.4332dup"	"r.(?)"	"p.(Asp1446Glyfs*105)"	"51"	"frameshift"	""
"0000706947"	"00005455"	"99"	"4338"	"0"	"4338"	"0"	"c.4338dup"	"r.(?)"	"p.(Val1447Argfs*104)"	"51"	"frameshift"	""
"0000706948"	"00005455"	"95"	"4339"	"0"	"4364"	"0"	"c.4339_4364del"	"r.?"	"p.(Val1447Leufs*95)"	"51"	"frameshift"	""
"0000706949"	"00005455"	"75"	"4343"	"0"	"4343"	"0"	"c.4343G>A"	"r.(?)"	"p.(Gly1448Asp)"	"51"	"missense"	""
"0000706950"	"00005455"	"77"	"4343"	"0"	"4343"	"0"	"c.4343G>T"	"r.(?)"	"p.(Gly1448Val)"	"51"	"missense"	"Gly1270Val"
"0000706951"	"00005455"	"99"	"4352"	"0"	"4352"	"0"	"c.4352dup"	"r.(?)"	"p.(Asp1451Glufs*100)"	"51"	"frameshift"	""
"0000706952"	"00005455"	"75"	"4356"	"0"	"4356"	"0"	"c.4356G>C"	"r.?"	"p.(Gln1452His)"	"51"	"missense"	"Gln1274His"
"0000706953"	"00005455"	"99"	"4358"	"0"	"4362"	"0"	"c.4358_4362del"	"r.(?)"	"p.(Glu1453Glyfs*96)"	"51"	"frameshift"	""
"0000706954"	"00005455"	"53"	"4363"	"0"	"4363"	"0"	"c.4363G>A"	"r.(?)"	"p.(Gly1455Ser)"	"51"	"missense"	""
"0000706955"	"00005455"	"97"	"4363"	"0"	"4363"	"0"	"c.4363G>A"	"r.?"	"p.(Gly1455Ser)"	"51"	"missense"	""
"0000706956"	"00005455"	"99"	"4364"	"0"	"4364"	"0"	"c.4364G>T"	"r.(?)"	"p.(Gly1455Val)"	"51"	"missense"	""
"0000706957"	"00005455"	"95"	"4364"	"0"	"4364"	"0"	"c.4364G>T"	"r.?"	"p.(Gly1455Val)"	"51"	"missense"	"Gly1277Val"
"0000706958"	"00005455"	"95"	"4367"	"0"	"4367"	"0"	"c.4367T>C"	"r.?"	"p.(Phe1456Ser)"	"51"	"missense"	""
"0000706959"	"00005455"	"99"	"4375"	"0"	"4375"	"0"	"c.4375G>C"	"r.(?)"	"p.(Gly1459Arg)"	"51"	"missense"	""
"0000706960"	"00005455"	"99"	"4386"	"0"	"4386"	"0"	"c.4386del"	"r.(?)"	"p.(Phe1463Serfs*63)"	"51"	"frameshift"	""
"0000706961"	"00005455"	"77"	"4387"	"0"	"4387"	"0"	"c.4387T>C"	"r.(?)"	"p.(Phe1463Leu)"	"51"	"missense"	""
"0000706962"	"00005455"	"99"	"4391"	"0"	"4391"	"0"	"c.4391T>C"	"r.(?)"	"p.(Leu1464Pro)"	"51"	"missense"	"Leu1286Pro"
"0000706963"	"00005455"	"99"	"4391"	"0"	"4391"	"0"	"c.4391T>C"	"r.(?)"	"p.(Leu1464Pro)"	"51"	"missense"	"Leu1286Pro"
"0000712588"	"00005455"	"99"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	""	""	""
"0000712589"	"00005455"	"79"	"697"	"-2"	"697"	"-1"	"c.697-2_697-1del"	"r.spl"	"p.?"	""	"splicing affected"	""
"0000712590"	"00005455"	"79"	"3749"	"0"	"3749"	"0"	"c.3749del"	"r.(?)"	"p.(Gly1250Alafs*81)"	""	""	""
"0000712591"	"00005455"	"99"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	""	""	""
"0000712592"	"00005455"	"77"	"3655"	"0"	"3655"	"0"	"c.3655G>A"	"r.(?)"	"p.(Asp1219Asn)"	""	""	""
"0000712593"	"00005455"	"99"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377Alafs*164)"	""	""	""
"0000712594"	"00005455"	"79"	"2452"	"-2"	"2452"	"-2"	"c.2452-2A>G"	"r.spl"	"p.?"	""	""	""
"0000712595"	"00005455"	"99"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	""	""	""
"0000712596"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	""	"nonsense"	""
"0000712597"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	""	"nonsense"	""
"0000712598"	"00005455"	"99"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	""	"nonsense"	""
"0000712599"	"00005455"	"79"	"1040"	"0"	"1040"	"0"	"c.1040G>A"	"r.(?)"	"p.(Gly347Asp)"	""	"missense"	""
"0000712600"	"00005455"	"79"	"616"	"0"	"616"	"0"	"c.616G>A"	"r.(?)"	"p.(Gly206Ser)"	""	"missense"	""
"0000712601"	"00005455"	"79"	"1252"	"0"	"1252"	"0"	"c.1252del"	"r.(?)"	"p.(Ser418Leufs*123)"	""	""	""
"0000712602"	"00005455"	"99"	"174"	"0"	"174"	"0"	"c.174C>A"	"r.(?)"	"p.(Cys58*)"	""	"nonsense"	""
"0000712603"	"00005455"	"79"	"3749"	"0"	"3749"	"0"	"c.3749del"	"r.(?)"	"p.(Gly1250Alafs*81)"	""	""	""
"0000712604"	"00005455"	"79"	"588"	"1"	"588"	"1"	"c.588+1G>A"	"r.spl"	"p.?"	""	"splicing affected"	""
"0000712605"	"00005455"	"99"	"1382"	"0"	"1382"	"0"	"c.1382del"	"r.(?)"	"p.(Gly461Alafs*80)"	""	""	""
"0000712606"	"00005455"	"79"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Gly200Ser)"	""	"missense"	""
"0000712607"	"00005455"	"99"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	""	""	""
"0000712608"	"00005455"	"79"	"2272"	"0"	"2272"	"0"	"c.2272G>A"	"r.(?)"	"p.(Gly758Ser)"	""	""	""
"0000712609"	"00005455"	"99"	"862"	"0"	"862"	"0"	"c.862G>T"	"r.(?)"	"p.(Glu288*)"	""	"nonsense"	""
"0000712627"	"00005455"	"59"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	""	"missense"	""
"0000726485"	"00005455"	"50"	"4198"	"0"	"4198"	"0"	"c.4198G>A"	"r.(?)"	"p.(Ala1400Thr)"	""	""	""
"0000726486"	"00005455"	"50"	"4067"	"0"	"4067"	"0"	"c.4067G>A"	"r.(?)"	"p.(Arg1356His)"	""	""	""
"0000726487"	"00005455"	"30"	"4017"	"0"	"4017"	"0"	"c.4017C>T"	"r.(?)"	"p.(Gly1339=)"	""	""	""
"0000726488"	"00005455"	"50"	"3979"	"0"	"3979"	"0"	"c.3979G>A"	"r.(?)"	"p.(Gly1327Ser)"	""	""	""
"0000726489"	"00005455"	"90"	"3263"	"0"	"3263"	"0"	"c.3263G>T"	"r.(?)"	"p.(Gly1088Val)"	""	""	""
"0000726490"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.spl?"	"p.?"	""	""	""
"0000726491"	"00005455"	"50"	"2944"	"0"	"2944"	"0"	"c.2944C>A"	"r.(?)"	"p.(Pro982Thr)"	""	""	""
"0000726492"	"00005455"	"30"	"2716"	"0"	"2716"	"0"	"c.2716G>A"	"r.(?)"	"p.(Gly906Ser)"	""	""	""
"0000726493"	"00005455"	"90"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	""	""	""
"0000726494"	"00005455"	"90"	"2543"	"0"	"2543"	"0"	"c.2543G>C"	"r.(?)"	"p.(Gly848Ala)"	""	""	""
"0000726495"	"00005455"	"30"	"2235"	"191"	"2235"	"191"	"c.2235+191G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000726496"	"00005455"	"50"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Pro567Ser)"	""	""	""
"0000726497"	"00005455"	"30"	"1615"	"-4"	"1615"	"-4"	"c.1615-4C>A"	"r.spl?"	"p.?"	""	""	""
"0000726498"	"00005455"	"10"	"904"	"-9"	"904"	"-9"	"c.904-9G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000726499"	"00005455"	"50"	"385"	"0"	"385"	"0"	"c.385C>T"	"r.(?)"	"p.(Pro129Ser)"	""	""	""
"0000726500"	"00005455"	"50"	"131"	"0"	"131"	"0"	"c.131G>A"	"r.(?)"	"p.(Gly44Asp)"	""	""	""
"0000729868"	"00005455"	"90"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	""	""	""
"0000729869"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	""	""	""
"0000729870"	"00005455"	"90"	"2127"	"2"	"2127"	"2"	"c.2127+2T>A"	"r.spl?"	"p.?"	""	""	""
"0000729871"	"00005455"	"90"	"299"	"-2"	"299"	"-2"	"c.299-2A>G"	"r.spl?"	"p.?"	""	""	""
"0000729872"	"00005455"	"90"	"841"	"0"	"841"	"0"	"c.841G>A"	"r.(?)"	"p.(Gly281Ser)"	""	""	""
"0000760643"	"00005455"	"79"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	"missense"	"Gly79Arg"
"0000760644"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>T"	"r.(?)"	"p.(Gly1076Cys)"	""	"missense"	""
"0000760645"	"00005455"	"70"	"3398"	"0"	"3398"	"0"	"c.3398G>A"	"r.(?)"	"p.(Gly1133Glu)"	""	"missense"	""
"0000760646"	"00005455"	"70"	"2758"	"0"	"2758"	"0"	"c.2758G>A"	"r.(?)"	"p.(Gly920Ser)"	""	"missense"	""
"0000760686"	"00005455"	"70"	"1877"	"0"	"1877"	"0"	"c.1877G>A"	"r.(?)"	"p.(Gly626Asp)"	""	"missense"	""
"0000760687"	"00005455"	"70"	"1192"	"0"	"1192"	"0"	"c.1192G>A"	"r.(?)"	"p.(Gly398Ser)"	""	"missense"	""
"0000760688"	"00005455"	"50"	"4130"	"0"	"4130"	"0"	"c.4130T>C"	"r.(?)"	"p.(Met1377Thr)"	""	"missense"	""
"0000760689"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	""	"missense"	"Gly688Ser"
"0000760690"	"00005455"	"90"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	""	"missense"	""
"0000760994"	"00005455"	"70"	"3389"	"0"	"3389"	"0"	"c.3389G>A"	"r.(?)"	"p.(Gly1130Asp)"	""	""	""
"0000760995"	"00005455"	"90"	"1921"	"0"	"1921"	"0"	"c.1921G>A"	"r.(?)"	"p.(Gly641Arg)"	""	""	""
"0000765939"	"00005455"	"57"	"3532"	"-3"	"3532"	"-3"	"c.3532-3C>G"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000786661"	"00005455"	"50"	"2831"	"0"	"2831"	"0"	"c.2831G>T"	"r.(?)"	"p.(Gly944Val)"	""	""	""
"0000791067"	"00005455"	"50"	"3691"	"0"	"3691"	"0"	"c.3691G>A"	"r.(?)"	"p.(Val1231Met)"	""	"missense"	""
"0000808066"	"00005455"	"10"	"4179"	"0"	"4179"	"0"	"c.4179C>T"	"r.(?)"	"p.(Ser1393=)"	""	""	""
"0000808067"	"00005455"	"30"	"3815"	"-9"	"3815"	"-9"	"c.3815-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000808068"	"00005455"	"50"	"3589"	"0"	"3589"	"0"	"c.3589G>A"	"r.(?)"	"p.(Asp1197Asn)"	""	""	""
"0000808069"	"00005455"	"30"	"3099"	"7"	"3099"	"7"	"c.3099+7T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000808070"	"00005455"	"30"	"3099"	"7"	"3099"	"7"	"c.3099+7T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000808071"	"00005455"	"30"	"3093"	"0"	"3093"	"0"	"c.3093C>T"	"r.(?)"	"p.(Gly1031=)"	""	""	""
"0000808072"	"00005455"	"30"	"2830"	"-9"	"2830"	"-9"	"c.2830-9C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000808073"	"00005455"	"70"	"2696"	"0"	"2696"	"0"	"c.2696G>A"	"r.(?)"	"p.(Gly899Asp)"	""	""	""
"0000808074"	"00005455"	"30"	"2532"	"0"	"2532"	"0"	"c.2532C>T"	"r.(?)"	"p.(Ala844=)"	""	""	""
"0000808075"	"00005455"	"90"	"2317"	"0"	"2317"	"0"	"c.2317G>A"	"r.(?)"	"p.(Gly773Ser)"	""	""	""
"0000808076"	"00005455"	"30"	"1461"	"13"	"1461"	"13"	"c.1461+13G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000808077"	"00005455"	"30"	"1300"	"-8"	"1300"	"-8"	"c.1300-8C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000808078"	"00005455"	"30"	"1300"	"-9"	"1300"	"-9"	"c.1300-9C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000808079"	"00005455"	"30"	"1269"	"0"	"1269"	"0"	"c.1269C>T"	"r.(?)"	"p.(Pro423=)"	""	""	""
"0000808080"	"00005455"	"30"	"1113"	"0"	"1113"	"0"	"c.1113T>C"	"r.(?)"	"p.(Gly371=)"	""	""	""
"0000808081"	"00005455"	"30"	"804"	"20"	"804"	"20"	"c.804+20T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000808082"	"00005455"	"10"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	""	""	""
"0000808083"	"00005455"	"30"	"471"	"14"	"471"	"14"	"c.471+14C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000808084"	"00005455"	"50"	"175"	"0"	"175"	"0"	"c.175C>T"	"r.(?)"	"p.(Arg59Trp)"	""	""	""
"0000808085"	"00005455"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""	""	""
"0000814749"	"00005455"	"90"	"174"	"0"	"174"	"0"	"c.174C>A"	"r.(?)"	"p.(Cys58*)"	""	"nonsense"	""
"0000815008"	"00005455"	"90"	"3837"	"0"	"3840"	"0"	"c.3837_3840del"	"r.(?)"	"p.(Asn1279LysfsTer51)"	""	""	""
"0000817709"	"00005455"	"99"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl"	"p.?"	"16i"	"splicing affected"	""
"0000817710"	"00005455"	"99"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"38"	"missense"	"Gly688Ser"
"0000818584"	"00005455"	"97"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	"8"	"missense"	"Pro27Ala"
"0000824496"	"00005455"	"77"	"3369"	"3"	"3369"	"3"	"c.3369+3A>C"	"r.(?)"	"p.(?)"	""	""	""
"0000825652"	"00005455"	"90"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	""	"missense"	""
"0000830809"	"00005455"	"90"	"2612"	"0"	"2612"	"0"	"c.2612del"	"r.(?)"	"p.(Pro871LeufsTer237)"	""	""	""
"0000830811"	"00005455"	"90"	"38"	"0"	"38"	"0"	"c.38T>G"	"r.(?)"	"p.(Leu13Ter)"	""	""	""
"0000830812"	"00005455"	"90"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Ter)"	""	""	""
"0000830813"	"00005455"	"90"	"1156"	"-1"	"1156"	"-1"	"c.1156-1G>A"	"r.spl"	"p.?"	""	""	""
"0000830814"	"00005455"	"90"	"2645"	"0"	"2663"	"0"	"c.2645_2663dup"	"r.(?)"	"p.(Gly890ArgfsTer29)"	""	""	""
"0000830815"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>T"	"r.spl"	"p.?"	""	""	""
"0000830816"	"00005455"	"90"	"982"	"0"	"983"	"0"	"c.982_983dup"	"r.(?)"	"p.(Gly329LeufsTer213)"	""	""	""
"0000830817"	"00005455"	"90"	"2101"	"0"	"2101"	"0"	"c.2101G>A"	"r.(?)"	"p.(Gly701Ser)"	""	""	""
"0000830820"	"00005455"	"90"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Gly1151Ser)"	""	""	""
"0000830824"	"00005455"	"90"	"3136"	"0"	"3136"	"0"	"c.3136G>T"	"r.(?)"	"p.(Gly1046Cys)"	""	""	""
"0000830825"	"00005455"	"90"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Gly1151Ser)"	""	""	""
"0000830826"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	""	""	""
"0000830829"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	""	""	""
"0000830831"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>C"	"r.(?)"	"p.(Gly332Arg)"	""	""	""
"0000830833"	"00005455"	"90"	"2615"	"0"	"2615"	"0"	"c.2615G>C"	"r.(?)"	"p.(Gly872Ala)"	""	""	""
"0000833445"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	"splicing affected"	""
"0000833446"	"00005455"	"90"	"2317"	"0"	"2317"	"0"	"c.2317G>T"	"r.(?)"	"p.(Gly773Cys)"	"33"	"splicing affected"	""
"0000833448"	"00005455"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	"17"	"nonsense"	""
"0000836048"	"00005455"	"90"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469*)"	""	""	""
"0000847687"	"00005455"	"99"	"802"	"0"	"804"	"9"	"c.802_804+9del"	"r.?"	"p.?"	""	"splicing affected"	""
"0000854982"	"00005455"	"30"	"4281"	"0"	"4281"	"0"	"c.4281T>C"	"r.(?)"	"p.(Ile1427=)"	""	""	""
"0000854983"	"00005455"	"30"	"4113"	"0"	"4113"	"0"	"c.4113G>A"	"r.(?)"	"p.(Lys1371=)"	""	""	""
"0000854984"	"00005455"	"90"	"3834"	"0"	"3834"	"0"	"c.3834del"	"r.(?)"	"p.(Asn1279Thrfs*52)"	""	""	""
"0000854985"	"00005455"	"10"	"3046"	"-6"	"3046"	"-5"	"c.3046-6_3046-5dup"	"r.spl?"	"p.?"	""	""	""
"0000854986"	"00005455"	"90"	"2057"	"0"	"2057"	"0"	"c.2057G>T"	"r.(?)"	"p.(Gly686Val)"	""	""	""
"0000854987"	"00005455"	"50"	"1331"	"0"	"1331"	"0"	"c.1331A>T"	"r.(?)"	"p.(Asp444Val)"	""	""	""
"0000854988"	"00005455"	"10"	"957"	"10"	"957"	"10"	"c.957+10C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000854989"	"00005455"	"90"	"910"	"0"	"910"	"0"	"c.910del"	"r.(?)"	"p.(Arg304Valfs*237)"	""	""	""
"0000854990"	"00005455"	"90"	"459"	"0"	"459"	"0"	"c.459del"	"r.(?)"	"p.(Gly154Alafs*111)"	""	""	""
"0000854991"	"00005455"	"50"	"428"	"0"	"428"	"0"	"c.428C>G"	"r.(?)"	"p.(Pro143Arg)"	""	""	""
"0000854992"	"00005455"	"30"	"428"	"0"	"428"	"0"	"c.428C>G"	"r.(?)"	"p.(Pro143Arg)"	""	""	""
"0000865348"	"00005455"	"50"	"4005"	"5"	"4005"	"5"	"c.4005+5G>A"	"r.spl?"	"p.?"	""	""	""
"0000865349"	"00005455"	"90"	"3172"	"0"	"3172"	"0"	"c.3172G>A"	"r.(?)"	"p.(Gly1058Ser)"	""	""	""
"0000865350"	"00005455"	"90"	"2037"	"0"	"2038"	"0"	"c.2037_2038del"	"r.(?)"	"p.(Gly680Phefs*29)"	""	""	""
"0000865351"	"00005455"	"30"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	""	""	""
"0000865352"	"00005455"	"10"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.(?)"	"p.(Val607=)"	""	""	""
"0000865353"	"00005455"	"10"	"1168"	"0"	"1168"	"0"	"c.1168G>A"	"r.(?)"	"p.(Ala390Thr)"	""	""	""
"0000865354"	"00005455"	"10"	"298"	"7"	"298"	"7"	"c.298+7C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000865355"	"00005455"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""	""	""
"0000870156"	"00005455"	"99"	"64"	"0"	"64"	"0"	"c.64G>C"	"r.(?)"	"p.(Gly22Arg)"	"1"	"missense"	""
"0000872426"	"00005455"	"90"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	""	""	""
"0000872427"	"00005455"	"90"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	""	""	""
"0000872428"	"00005455"	"90"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	""	""	""
"0000872429"	"00005455"	"90"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	""	""	""
"0000874918"	"00005455"	"90"	"38"	"0"	"38"	"0"	"c.38T>G"	"r.(?)"	"p.(Leu13Ter)"	"1"	""	""
"0000874919"	"00005455"	"90"	"37"	"0"	"38"	"0"	"c.37_38insC"	"r.(?)"	"p.(Leu13SerfsTer37)"	"1"	""	""
"0000874920"	"00005455"	"90"	"64"	"0"	"64"	"0"	"c.64G>C"	"r.(?)"	"p.(Gly22Arg)"	"1"	""	""
"0000874921"	"00005455"	"90"	"67"	"0"	"67"	"0"	"c.67C>T"	"r.(?)"	"p.(Gln23Ter)"	"1"	""	""
"0000874922"	"00005455"	"90"	"65"	"0"	"70"	"0"	"c.65_70del"	"r.(?)"	"p.(Gly22_Gln23del)"	"1"	""	""
"0000874923"	"00005455"	"90"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	"1"	""	""
"0000874924"	"00005455"	"90"	"79"	"0"	"79"	"0"	"c.79C>T"	"r.(?)"	"p.(Gln27Ter)"	"1"	""	""
"0000874925"	"00005455"	"90"	"81"	"0"	"81"	"0"	"c.81del"	"r.(?)"	"p.(Val28SerfsTer46)"	"1"	""	""
"0000874926"	"00005455"	"90"	"91"	"0"	"91"	"0"	"c.91C>T"	"r.(?)"	"p.(Gln31Ter)"	"1"	""	""
"0000874927"	"00005455"	"90"	"103"	"1"	"103"	"1"	"c.103+1G>A"	"r.spl"	"p.?"	"1i"	""	""
"0000874928"	"00005455"	"90"	"103"	"1"	"103"	"1"	"c.103+1G>C"	"r.spl"	"p.?"	"1i"	""	""
"0000874929"	"00005455"	"90"	"103"	"2"	"103"	"2"	"c.103+2T>C"	"r.spl"	"p.?"	"1i"	""	""
"0000874930"	"00005455"	"90"	"103"	"2"	"103"	"2"	"c.103+2T>G"	"r.spl"	"p.?"	"1i"	""	""
"0000874931"	"00005455"	"90"	"103"	"5"	"103"	"5"	"c.103+5G>A"	"r.spl?"	"p.?"	"1i"	""	""
"0000874932"	"00005455"	"30"	"103"	"16"	"103"	"16"	"c.103+16T>G"	"r.(?)"	"p.(=)"	"1i"	""	""
"0000874933"	"00005455"	"30"	"104"	"-441"	"104"	"-441"	"c.104-441G>T"	"r.(?)"	"p.(=)"	"1i"	""	""
"0000874934"	"00005455"	"70"	"104"	"-13"	"104"	"-12"	"c.104-13_104-12delinsAA"	"r.(?)"	"p.(=)"	"1i"	""	""
"0000874935"	"00005455"	"90"	"104"	"-3"	"104"	"-3"	"c.104-3C>G"	"r.spl?"	"p.?"	"1i"	""	""
"0000874936"	"00005455"	"90"	"104"	"-2"	"104"	"-2"	"c.104-2A>G"	"r.spl"	"p.?"	"1i"	""	""
"0000874937"	"00005455"	"90"	"104"	"-1"	"104"	"-1"	"c.104-1G>A"	"r.spl"	"p.?"	"1i"	""	""
"0000874938"	"00005455"	"90"	"104"	"-1"	"104"	"-1"	"c.104-1G>C"	"r.spl"	"p.?"	"1i"	""	""
"0000874939"	"00005455"	"90"	"104"	"-1"	"104"	"-1"	"c.104-1G>T"	"r.104_126del"	"p.?"	"1i"	""	""
"0000874940"	"00005455"	"90"	"111"	"0"	"117"	"0"	"c.111_117del"	"r.(?)"	"p.(Ile38AlafsTer34)"	"2"	""	""
"0000874941"	"00005455"	"90"	"120"	"0"	"120"	"0"	"c.120C>A"	"r.(?)"	"p.(Cys40Ter)"	"2"	""	""
"0000874942"	"00005455"	"90"	"131"	"0"	"131"	"0"	"c.131G>A"	"r.(?)"	"p.(Gly44Asp)"	"2"	""	""
"0000874943"	"00005455"	"90"	"141"	"0"	"141"	"0"	"c.141C>A"	"r.(?)"	"p.(Tyr47Ter)"	"2"	""	""
"0000874944"	"00005455"	"90"	"143"	"0"	"143"	"0"	"c.143dup"	"r.(?)"	"p.(His48GlnfsTer2)"	"2"	""	""
"0000874945"	"00005455"	"90"	"144"	"0"	"144"	"0"	"c.144del"	"r.(?)"	"p.(His48GlnfsTer26)"	"2"	""	""
"0000874946"	"00005455"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Arg50Ter)"	"2"	""	""
"0000874947"	"00005455"	"90"	"158"	"0"	"158"	"0"	"c.158G>A"	"r.(?)"	"p.(Trp53Ter)"	"2"	""	""
"0000874948"	"00005455"	"90"	"157"	"0"	"158"	"0"	"c.157_158del"	"r.(?)"	"p.(Trp53GlufsTer19)"	"2"	""	""
"0000874949"	"00005455"	"90"	"175"	"0"	"175"	"0"	"c.175C>T"	"r.(?)"	"p.(Arg59Trp)"	"2"	""	""
"0000874950"	"00005455"	"30"	"177"	"0"	"177"	"0"	"c.177G>T"	"r.(?)"	"p.(Arg59=)"	"2"	""	""
"0000874951"	"00005455"	"90"	"177"	"0"	"179"	"0"	"c.177_179delinsAG"	"r.(?)"	"p.(Ile60AlafsTer14)"	"2"	""	""
"0000874952"	"00005455"	"90"	"189"	"0"	"189"	"0"	"c.189C>A"	"r.(?)"	"p.(Cys63Ter)"	"2"	""	""
"0000874953"	"00005455"	"90"	"189"	"0"	"189"	"0"	"c.189dup"	"r.(?)"	"p.(Asp64ArgfsTer9)"	"2"	""	""
"0000874954"	"00005455"	"90"	"199"	"0"	"199"	"0"	"c.199A>T"	"r.(?)"	"p.(Lys67Ter)"	"2"	""	""
"0000874955"	"00005455"	"90"	"198"	"0"	"204"	"0"	"c.198_204dup"	"r.(?)"	"p.(Leu69GlnfsTer6)"	"2"	""	""
"0000874956"	"00005455"	"90"	"210"	"0"	"210"	"0"	"c.210C>A"	"r.(?)"	"p.(Cys70Ter)"	"2"	""	""
"0000874957"	"00005455"	"90"	"212"	"0"	"212"	"0"	"c.212del"	"r.(?)"	"p.(Asp71ValfsTer3)"	"2"	""	""
"0000874958"	"00005455"	"90"	"231"	"0"	"231"	"0"	"c.231del"	"r.(?)"	"p.(Thr78ProfsTer76)"	"2"	""	""
"0000874959"	"00005455"	"90"	"246"	"0"	"246"	"0"	"c.246del"	"r.(?)"	"p.(Gly83AlafsTer182)"	"2"	""	""
"0000874960"	"00005455"	"90"	"247"	"0"	"248"	"0"	"c.247_248insAAGGACT"	"r.(?)"	"p.(Gly83GlufsTer88)"	"2"	""	""
"0000874961"	"00005455"	"90"	"253"	"0"	"253"	"0"	"c.253G>T"	"r.(?)"	"p.(Glu85Ter)"	"2"	""	""
"0000874962"	"00005455"	"90"	"262"	"0"	"262"	"0"	"c.262G>T"	"r.(?)"	"p.(Glu88Ter)"	"2"	""	""
"0000874963"	"00005455"	"90"	"266"	"0"	"266"	"0"	"c.266delinsCGCCGTCCCGGGGA"	"r.(?)"	"p.(Gly89AlafsTer84)"	"2"	""	""
"0000874964"	"00005455"	"90"	"266"	"0"	"266"	"0"	"c.266G>T"	"r.(?)"	"p.(Gly89Val)"	"2"	""	""
"0000874965"	"00005455"	"90"	"268"	"0"	"268"	"0"	"c.268G>T"	"r.(?)"	"p.(Glu90Ter)"	"2"	""	""
"0000874966"	"00005455"	"90"	"276"	"0"	"276"	"0"	"c.276del"	"r.(?)"	"p.(Val94SerfsTer171)"	"2"	""	""
"0000874967"	"00005455"	"90"	"285"	"0"	"285"	"0"	"c.285C>A"	"r.(?)"	"p.(Cys95Ter)"	"2"	""	""
"0000874968"	"00005455"	"30"	"298"	"48"	"298"	"54"	"c.298+48_298+54del"	"r.(?)"	"p.(=)"	"2i"	""	""
"0000874969"	"00005455"	"30"	"298"	"34"	"298"	"34"	"c.298+34del"	"r.(?)"	"p.(=)"	"2i"	""	""
"0000874970"	"00005455"	"90"	"268"	"0"	"299"	"-60"	"c.268_299-60del"	"r.spl"	"p.?"	"2_2i"	""	""
"0000874971"	"00005455"	"90"	"299"	"-2"	"299"	"-2"	"c.299-2A>G"	"r.spl"	"p.?"	"2i"	""	""
"0000874972"	"00005455"	"90"	"299"	"-1"	"299"	"-1"	"c.299-1G>A"	"r.spl"	"p.?"	"2i"	""	""
"0000874973"	"00005455"	"90"	"299"	"-1"	"299"	"-1"	"c.299-1G>C"	"r.spl"	"p.?"	"2i"	""	""
"0000874974"	"00005455"	"90"	"299"	"0"	"300"	"0"	"c.299_300del"	"r.spl?"	"p.(Glu100ValfsTer68)"	"3"	""	""
"0000874975"	"00005455"	"90"	"299"	"0"	"300"	"0"	"c.299_300insC"	"r.(?)"	"p.(Glu100AspfsTer69)"	"3"	""	""
"0000874976"	"00005455"	"90"	"309"	"0"	"309"	"0"	"c.309del"	"r.(?)"	"p.(Asp104ThrfsTer161)"	"3"	""	""
"0000874977"	"00005455"	"90"	"299"	"-5"	"313"	"0"	"c.299-5_313del"	"r.spl"	"p.?"	"2i_3"	""	""
"0000874978"	"00005455"	"90"	"314"	"0"	"324"	"0"	"c.314_324del"	"r.(?)"	"p.(Gln105ArgfsTer60)"	"3"	""	""
"0000874979"	"00005455"	"90"	"326"	"0"	"326"	"0"	"c.326G>A"	"r.(?)"	"p.(Gly109Asp)"	"3"	""	""
"0000874980"	"00005455"	"90"	"333"	"1"	"333"	"1"	"c.333+1G>A"	"r.spl"	"p.?"	"3i"	""	""
"0000874981"	"00005455"	"90"	"333"	"1"	"333"	"1"	"c.333+1G>T"	"r.spl"	"p.?"	"3i"	""	""
"0000874982"	"00005455"	"90"	"333"	"0"	"333"	"1"	"c.333_333+1delinsTC"	"r.spl"	"p.?"	"3_3i"	""	""
"0000874983"	"00005455"	"90"	"333"	"2"	"333"	"2"	"c.333+2T>C"	"r.spl"	"p.?"	"3i"	""	""
"0000874984"	"00005455"	"70"	"333"	"3"	"333"	"3"	"c.333+3A>T"	"r.spl?"	"p.?"	"3i"	""	""
"0000874985"	"00005455"	"90"	"334"	"-2"	"334"	"-2"	"c.334-2A>G"	"r.spl"	"p.?"	"3i"	""	""
"0000874986"	"00005455"	"90"	"334"	"-1"	"334"	"-1"	"c.334-1G>A"	"r.spl"	"p.?"	"3i"	""	""
"0000874987"	"00005455"	"90"	"358"	"0"	"358"	"0"	"c.358C>T"	"r.(?)"	"p.(Arg120Ter)"	"4"	""	""
"0000874988"	"00005455"	"90"	"370"	"-2"	"370"	"-2"	"c.370-2A>G"	"r.spl"	"p.?"	"4i"	""	""
"0000874989"	"00005455"	"90"	"370"	"-1"	"370"	"-1"	"c.370-1G>A"	"r.spl"	"p.?"	"4i"	""	""
"0000874990"	"00005455"	"90"	"370"	"-3"	"370"	"-1"	"c.370-3_370-1delinsTC"	"r.spl"	"p.?"	"4i"	""	""
"0000874991"	"00005455"	"90"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130TrpfsTer39)"	"5"	""	""
"0000874992"	"00005455"	"90"	"386"	"0"	"386"	"0"	"c.386del"	"r.(?)"	"p.(Pro129LeufsTer136)"	"5"	""	""
"0000874993"	"00005455"	"90"	"389"	"0"	"390"	"0"	"c.389_390insA"	"r.(?)"	"p.(Arg131ProfsTer38)"	"5"	""	""
"0000874994"	"00005455"	"90"	"391"	"0"	"391"	"0"	"c.391C>T"	"r.(?)"	"p.(Arg131Ter)"	"5"	""	""
"0000874995"	"00005455"	"90"	"410"	"0"	"413"	"0"	"c.410_413del"	"r.(?)"	"p.(Gln137LeufsTer127)"	"5"	""	""
"0000874996"	"00005455"	"90"	"416"	"0"	"419"	"0"	"c.416_419del"	"r.(?)"	"p.(Gly139ValfsTer125)"	"5"	""	""
"0000874997"	"00005455"	"90"	"423"	"0"	"423"	"0"	"c.423del"	"r.(?)"	"p.(Gly142AspfsTer123)"	"5"	""	""
"0000874998"	"00005455"	"90"	"432"	"0"	"432"	"0"	"c.432dup"	"r.(?)"	"p.(Gly145ArgfsTer24)"	"5"	""	""
"0000874999"	"00005455"	"90"	"432"	"0"	"432"	"0"	"c.432del"	"r.(?)"	"p.(Gly145AspfsTer120)"	"5"	""	""
"0000875000"	"00005455"	"90"	"433"	"0"	"434"	"0"	"c.433_434insC"	"r.(?)"	"p.(Gly145AlafsTer24)"	"5"	""	""
"0000875001"	"00005455"	"90"	"441"	"0"	"441"	"0"	"c.441del"	"r.(?)"	"p.(Gly148AspfsTer117)"	"5"	""	""
"0000875002"	"00005455"	"90"	"441"	"0"	"441"	"0"	"c.441dup"	"r.(?)"	"p.(Gly148ArgTer21)"	"5"	""	""
"0000875003"	"00005455"	"90"	"442"	"0"	"442"	"0"	"c.442G>T"	"r.(?)"	"p.(Gly148Ter)"	"5"	""	""
"0000875004"	"00005455"	"90"	"458"	"0"	"458"	"0"	"c.458dup"	"r.(?)"	"p.(Gly154TrpfsTer15)"	"5"	""	""
"0000875005"	"00005455"	"90"	"459"	"0"	"459"	"0"	"c.459del"	"r.(?)"	"p.(Gly154AlafsTer111)"	"5"	""	""
"0000875006"	"00005455"	"30"	"462"	"0"	"462"	"0"	"c.462C>T"	"r.(?)"	"p.(Gly154=)"	"5"	""	""
"0000875007"	"00005455"	"90"	"469"	"0"	"469"	"0"	"c.469G>T"	"r.(?)"	"p.(Gly157Ter)"	"5"	""	""
"0000875008"	"00005455"	"90"	"471"	"1"	"471"	"1"	"c.471+1G>A"	"r.spl"	"p.?"	"5i"	""	""
"0000875009"	"00005455"	"90"	"471"	"1"	"471"	"1"	"c.471+1G>C"	"r.spl"	"p.?"	"5i"	""	""
"0000875010"	"00005455"	"90"	"472"	"-2"	"472"	"-2"	"c.472-2A>G"	"r.spl"	"p.?"	"5i"	""	""
"0000875011"	"00005455"	"90"	"472"	"-2"	"472"	"-2"	"c.472-2A>T"	"r.spl"	"p.(Asn158_Gln162del)"	"5i"	""	""
"0000875012"	"00005455"	"90"	"472"	"-1"	"472"	"-1"	"c.472-1G>A"	"r.spl"	"p.?"	"5i"	""	""
"0000875013"	"00005455"	"90"	"477"	"0"	"477"	"0"	"c.477dup"	"r.(?)"	"p.(Ala160CysfsTer9)"	"6"	""	""
"0000875014"	"00005455"	"90"	"484"	"0"	"484"	"0"	"c.484C>T"	"r.(?)"	"p.(Gln162Ter)"	"6"	""	""
"0000875015"	"00005455"	"90"	"495"	"0"	"495"	"0"	"c.495T>A"	"r.(?)"	"p.(Tyr165Ter)"	"6"	""	""
"0000875016"	"00005455"	"90"	"506"	"0"	"506"	"0"	"c.506del"	"r.(?)"	"p.(Glu169GlyfsTer96)"	"6"	""	""
"0000875017"	"00005455"	"90"	"512"	"0"	"512"	"0"	"c.512C>A"	"r.(?)"	"p.(Ser171Ter)"	"6"	""	""
"0000875018"	"00005455"	"90"	"517"	"0"	"517"	"0"	"c.517G>T"	"r.(?)"	"p.(Gly173Ter)"	"6"	""	""
"0000875019"	"00005455"	"90"	"533"	"0"	"533"	"0"	"c.533del"	"r.(?)"	"p.(Pro178LeufsTer87)"	"6"	""	""
"0000875020"	"00005455"	"90"	"540"	"0"	"540"	"0"	"c.540dup"	"r.(?)"	"p.(Met181HisfsTer27)"	"6"	""	""
"0000875021"	"00005455"	"90"	"543"	"1"	"543"	"1"	"c.543+1G>C"	"r.spl"	"p.?"	"6i"	""	""
"0000875022"	"00005455"	"90"	"543"	"1"	"543"	"1"	"c.543+1G>T"	"r.spl"	"p.?"	"6i"	""	""
"0000875023"	"00005455"	"90"	"543"	"2"	"543"	"2"	"c.543+2T>A"	"r.spl"	"p.?"	"6i"	""	""
"0000875024"	"00005455"	"90"	"543"	"2"	"543"	"2"	"c.543+2T>C"	"r.spl"	"p.?"	"6i"	""	""
"0000875025"	"00005455"	"90"	"392"	"0"	"543"	"8"	"c.392_543+8delinsT"	"r.spl"	"p.(Gly124_Met181del)"	"5_6i"	""	""
"0000875026"	"00005455"	"90"	"544"	"-2"	"544"	"-2"	"c.544-2A>G"	"r.spl"	"p.?"	"6i"	""	""
"0000875027"	"00005455"	"90"	"544"	"-1"	"544"	"-1"	"c.544-1G>T"	"r.spl"	"p.?"	"6i"	""	""
"0000875028"	"00005455"	"90"	"563"	"0"	"563"	"0"	"c.563G>A"	"r.(?)"	"p.(Gly188Asp)"	"7"	""	""
"0000875029"	"00005455"	"90"	"569"	"0"	"569"	"0"	"c.569del"	"r.(?)"	"p.(Pro190LeufsTer75)"	"8"	""	""
"0000875030"	"00005455"	"90"	"572"	"0"	"572"	"0"	"c.572G>A"	"r.(?)"	"p.(Gly191Asp)"	"7"	""	""
"0000875031"	"00005455"	"90"	"572"	"0"	"572"	"0"	"c.572G>C"	"r.(?)"	"p.(Gly191Ala)"	"7"	""	""
"0000875032"	"00005455"	"90"	"578"	"0"	"578"	"0"	"c.578dup"	"r.(?)"	"p.(Gly194TrpfsTer14)"	"7"	""	""
"0000875033"	"00005455"	"90"	"573"	"0"	"574"	"0"	"c.573_574delinsG"	"r.(?)"	"p.(Pro193LeufsTer72)"	"7"	""	""
"0000875034"	"00005455"	"90"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194ValfsTer71)"	"7"	""	""
"0000875035"	"00005455"	"90"	"580"	"0"	"580"	"0"	"c.580G>A"	"r.(?)"	"p.(Gly194Ser)"	"7"	""	""
"0000875036"	"00005455"	"90"	"580"	"0"	"580"	"0"	"c.580G>C"	"r.(?)"	"p.(Gly194Arg)"	"7"	""	""
"0000875037"	"00005455"	"90"	"581"	"0"	"581"	"0"	"c.581G>A"	"r.(?)"	"p.(Gly194Asp)"	"7"	""	""
"0000875038"	"00005455"	"90"	"581"	"0"	"581"	"0"	"c.581G>C"	"r.(?)"	"p.(Gly194Ala)"	"7"	""	""
"0000875039"	"00005455"	"90"	"588"	"1"	"588"	"1"	"c.588+1G>A"	"r.544_588del"	"p.?"	"7i"	""	""
"0000875040"	"00005455"	"90"	"588"	"1"	"588"	"1"	"c.588+1G>T"	"r.spl"	"p.?"	"7i"	""	""
"0000875041"	"00005455"	"90"	"589"	"-2"	"589"	"-2"	"c.589-2A>G"	"r.spl"	"p.?"	"7i"	""	""
"0000875042"	"00005455"	"90"	"589"	"-1"	"589"	"-1"	"c.589-1G>A"	"r.spl"	"p.?"	"7i"	""	""
"0000875043"	"00005455"	"90"	"589"	"0"	"589"	"0"	"c.589G>A"	"r.spl?"	"p.(Gly197Ser)"	"8"	""	""
"0000875044"	"00005455"	"90"	"589"	"0"	"589"	"0"	"c.589G>C"	"r.(?)"	"p.(Gly197Arg)"	"8"	""	""
"0000875045"	"00005455"	"90"	"589"	"0"	"589"	"0"	"c.589G>T"	"r.(?)"	"p.(Gly197Cys)"	"8"	""	""
"0000875046"	"00005455"	"90"	"590"	"0"	"590"	"0"	"c.590G>A"	"r.(?)"	"p.(Gly197Asp)"	"8"	""	""
"0000875047"	"00005455"	"90"	"590"	"0"	"590"	"0"	"c.590G>C"	"r.(?)"	"p.(Gly197Ala)"	"8"	""	""
"0000875048"	"00005455"	"90"	"590"	"0"	"590"	"0"	"c.590G>T"	"r.(?)"	"p.(Gly197Val)"	"8"	""	""
"0000875049"	"00005455"	"90"	"595"	"0"	"595"	"0"	"c.595del"	"r.(?)"	"p.(Gln199LysfsTer66)"	"8"	""	""
"0000875050"	"00005455"	"90"	"598"	"0"	"598"	"0"	"c.598G>A"	"r.(?)"	"p.(Gly200Ser)"	"8"	""	""
"0000875051"	"00005455"	"90"	"599"	"0"	"599"	"0"	"c.599G>T"	"r.(?)"	"p.(Gly200Val)"	"8"	""	""
"0000875052"	"00005455"	"90"	"607"	"0"	"607"	"0"	"c.607G>A"	"r.(?)"	"p.(Gly203Ser)"	"8"	""	""
"0000875053"	"00005455"	"90"	"607"	"0"	"607"	"0"	"c.607G>C"	"r.(?)"	"p.(Gly203Arg)"	"8"	""	""
"0000875054"	"00005455"	"90"	"607"	"0"	"607"	"0"	"c.607G>T"	"r.(?)"	"p.(Gly203Cys)"	"8"	""	""
"0000875055"	"00005455"	"90"	"608"	"0"	"608"	"0"	"c.608G>A"	"r.(?)"	"p.(Gly203Asp)"	"8"	""	""
"0000875056"	"00005455"	"90"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	"8"	""	""
"0000875057"	"00005455"	"90"	"614"	"0"	"614"	"0"	"c.614del"	"r.(?)"	"p.(Pro205LeufsTer60)"	"8"	""	""
"0000875058"	"00005455"	"90"	"614"	"0"	"614"	"0"	"c.614dup"	"r.(?)"	"p.(Gly206TrpfsTer2)"	"8"	""	""
"0000875059"	"00005455"	"90"	"615"	"0"	"615"	"0"	"c.615del"	"r.(?)"	"p.(Gly206ValfsTer59)"	"8"	""	""
"0000875060"	"00005455"	"90"	"616"	"0"	"616"	"0"	"c.616G>A"	"r.(?)"	"p.(Gly206Ser)"	"8"	""	""
"0000875061"	"00005455"	"90"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Gly206Asp)"	"8"	""	""
"0000875062"	"00005455"	"90"	"626"	"0"	"626"	"0"	"c.626G>A"	"r.(?)"	"p.(Gly209Asp)"	"8"	""	""
"0000875063"	"00005455"	"90"	"630"	"0"	"630"	"0"	"c.630del"	"r.(?)"	"p.(Glu210AspfsTer55)"	"8"	""	""
"0000875064"	"00005455"	"90"	"634"	"0"	"634"	"0"	"c.634G>A"	"r.(?)"	"p.(Gly212Arg)"	"8"	""	""
"0000875065"	"00005455"	"90"	"635"	"0"	"635"	"0"	"c.635G>A"	"r.(?)"	"p.(Gly212Glu)"	"8"	""	""
"0000875066"	"00005455"	"90"	"642"	"1"	"642"	"1"	"c.642+1G>A"	"r.spl"	"p.?"	"8i"	""	""
"0000875067"	"00005455"	"90"	"642"	"1"	"642"	"1"	"c.642+1G>C"	"r.spl"	"p.?"	"8i"	""	""
"0000875068"	"00005455"	"90"	"642"	"1"	"642"	"1"	"c.642+1G>T"	"r.spl"	"p.?"	"8i"	""	""
"0000875069"	"00005455"	"90"	"642"	"4"	"642"	"4"	"c.642+4del"	"r.[(589_642del,589_661del,587_588ins588+1_588+96,617_642del)]"	"p.[(Gly197_Ser214de,Gly197ValfsTer44,Pro196_Gly197ins32,Glu207SerfsTer17)]"	"8i"	""	""
"0000875070"	"00005455"	"90"	"643"	"-2"	"643"	"-2"	"c.643-2A>G"	"r.spl"	"p.?"	"8i"	""	""
"0000875071"	"00005455"	"90"	"643"	"0"	"643"	"0"	"c.643G>A"	"r.spl?"	"p.(Gly215Ser)"	"9"	""	""
"0000875072"	"00005455"	"90"	"643"	"0"	"643"	"0"	"c.643G>C"	"r.spl?"	"p.(Gly215Arg)"	"9"	""	""
"0000875073"	"00005455"	"90"	"653"	"0"	"653"	"0"	"c.653G>A"	"r.(?)"	"p.(Gly218Asp)"	"9"	""	""
"0000875074"	"00005455"	"90"	"658"	"0"	"658"	"0"	"c.658del"	"r.(?)"	"p.(Arg220GlufsTer45)"	"9"	""	""
"0000875075"	"00005455"	"90"	"649"	"0"	"658"	"0"	"c.649_658del"	"r.(?)"	"p.(Met217GlufsTer45)"	"9"	""	""
"0000875076"	"00005455"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220Ter)"	"9"	""	""
"0000875077"	"00005455"	"90"	"661"	"0"	"661"	"0"	"c.661G>A"	"r.(?)"	"p.(Gly221Ser)"	"9"	""	""
"0000875078"	"00005455"	"90"	"661"	"0"	"661"	"0"	"c.661G>C"	"r.(?)"	"p.(Gly221Arg)"	"9"	""	""
"0000875079"	"00005455"	"90"	"661"	"0"	"661"	"0"	"c.661G>T"	"r.(?)"	"p.(Gly221Cys)"	"9"	""	""
"0000875080"	"00005455"	"90"	"662"	"0"	"662"	"0"	"c.662G>A"	"r.(?)"	"p.(Gly221Asp)"	"9"	""	""
"0000875081"	"00005455"	"90"	"662"	"0"	"662"	"0"	"c.662G>C"	"r.(?)"	"p.(Gly221Ala)"	"9"	""	""
"0000875082"	"00005455"	"90"	"643"	"-13"	"662"	"0"	"c.643-13_662del"	"r.spl"	"p.?"	"8i_9"	""	""
"0000875083"	"00005455"	"90"	"669"	"0"	"669"	"0"	"c.669del"	"r.(?)"	"p.(Gly224ValfsTer41)"	"9"	""	""
"0000875084"	"00005455"	"90"	"671"	"0"	"671"	"0"	"c.671del"	"r.(?)"	"p.(Gly224ValfsTer41)"	"9"	""	""
"0000875085"	"00005455"	"90"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Gly224Ser)"	"9"	""	""
"0000875086"	"00005455"	"90"	"670"	"0"	"670"	"0"	"c.670G>T"	"r.(?)"	"p.(Gly224Cys)"	"9"	""	""
"0000875087"	"00005455"	"90"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.(?)"	"p.(Gly224Asp)"	"9"	""	""
"0000875088"	"00005455"	"90"	"672"	"0"	"673"	"0"	"c.672_673delinsA"	"r.(?)"	"p.(Pro226LeufsTer39)"	"9"	""	""
"0000875089"	"00005455"	"90"	"689"	"0"	"689"	"0"	"c.689G>A"	"r.(?)"	"p.(Gly230Glu)"	"9"	""	""
"0000875090"	"00005455"	"90"	"695"	"0"	"695"	"0"	"c.695del"	"r.(?)"	"p.(Asp232ValfsTer33)"	"9"	""	""
"0000875091"	"00005455"	"90"	"696"	"1"	"696"	"1"	"c.696+1G>A"	"r.spl"	"p.?"	"9i"	""	""
"0000875092"	"00005455"	"90"	"696"	"1"	"696"	"1"	"c.696+1G>T"	"r.spl"	"p.?"	"9i"	""	""
"0000875093"	"00005455"	"90"	"696"	"2"	"696"	"2"	"c.696+2T>G"	"r.spl"	"p.?"	"9i"	""	""
"0000875094"	"00005455"	"70"	"696"	"4"	"696"	"4"	"c.696+4del"	"r.spl?"	"p.?"	"9i"	""	""
"0000875095"	"00005455"	"90"	"697"	"-2"	"697"	"-2"	"c.697-2A>G"	"r.spl"	"p.?"	"9i"	""	""
"0000875096"	"00005455"	"90"	"697"	"-2"	"697"	"-2"	"c.697-2A>T"	"r.spl"	"p.?"	"9i"	""	""
"0000875097"	"00005455"	"90"	"697"	"-2"	"697"	"-2"	"c.697-2del"	"r.spl"	"p.?"	"9i"	""	""
"0000875098"	"00005455"	"90"	"700"	"0"	"700"	"0"	"c.700dup"	"r.spl?"	"p.(Glu234GlyfsTer10)"	"10"	""	""
"0000875099"	"00005455"	"90"	"700"	"0"	"700"	"0"	"c.700del"	"r.spl?"	"p.(Glu234LysfsTer31)"	"10"	""	""
"0000875100"	"00005455"	"90"	"697"	"-1"	"697"	"-1"	"c.697-1G>A"	"r.spl"	"p.?"	"9i"	""	""
"0000875101"	"00005455"	"90"	"697"	"-1"	"697"	"-1"	"c.697-1G>C"	"r.spl"	"p.?"	"9i"	""	""
"0000875102"	"00005455"	"90"	"697"	"-1"	"697"	"-1"	"c.697-1G>T"	"r.spl"	"p.?"	"9i"	""	""
"0000875103"	"00005455"	"90"	"697"	"-2"	"697"	"-1"	"c.697-2_697-1del"	"r.spl"	"p.?"	"9i"	""	""
"0000875104"	"00005455"	"90"	"697"	"0"	"697"	"0"	"c.697G>C"	"r.spl?"	"p.(Gly233Arg)"	"10"	""	""
"0000875105"	"00005455"	"90"	"716"	"0"	"716"	"0"	"c.716G>A"	"r.(?)"	"p.(Gly239Asp)"	"10"	""	""
"0000875106"	"00005455"	"90"	"725"	"0"	"725"	"0"	"c.725G>A"	"r.(?)"	"p.(Gly242Asp)"	"10"	""	""
"0000875107"	"00005455"	"90"	"725"	"0"	"725"	"0"	"c.725G>T"	"r.(?)"	"p.(Gly242Val)"	"10"	""	""
"0000875108"	"00005455"	"90"	"734"	"0"	"734"	"0"	"c.734G>A"	"r.(?)"	"p.(Gly245Glu)"	"10"	""	""
"0000875109"	"00005455"	"90"	"742"	"0"	"742"	"0"	"c.742G>A"	"r.(?)"	"p.(Gly248Arg)"	"10"	""	""
"0000875110"	"00005455"	"90"	"743"	"0"	"743"	"0"	"c.743G>A"	"r.(?)"	"p.(Gly248Glu)"	"10"	""	""
"0000875111"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>A"	"r.spl"	"p.?"	"10i"	""	""
"0000875112"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>C"	"r.697_750del"	"p.?"	"10i"	""	""
"0000875113"	"00005455"	"90"	"750"	"1"	"750"	"1"	"c.750+1G>T"	"r.spl"	"p.?"	"10i"	""	""
"0000875114"	"00005455"	"90"	"750"	"2"	"750"	"2"	"c.750+2T>A"	"r.spl"	"p.?"	"10i"	""	""
"0000875115"	"00005455"	"90"	"751"	"-2"	"751"	"-2"	"c.751-2A>G"	"r.spl"	"p.?"	"10i"	""	""
"0000875116"	"00005455"	"90"	"751"	"-1"	"751"	"-1"	"c.751-1G>C"	"r.spl"	"p.?"	"10i"	""	""
"0000875117"	"00005455"	"90"	"751"	"0"	"751"	"0"	"c.751G>C"	"r.spl?"	"p.(Gly251Arg)"	"11"	""	""
"0000875118"	"00005455"	"90"	"751"	"0"	"751"	"0"	"c.751G>T"	"r.spl?"	"p.(Gly251Cys)"	"11"	""	""
"0000875119"	"00005455"	"90"	"752"	"0"	"752"	"0"	"c.752G>A"	"r.(?)"	"p.(Gly251Asp)"	"11"	""	""
"0000875120"	"00005455"	"90"	"751"	"-3"	"755"	"0"	"c.751-3_755del"	"r.spl"	"p.?"	"10i_11"	""	""
"0000875121"	"00005455"	"90"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253Ter)"	"11"	""	""
"0000875122"	"00005455"	"90"	"760"	"0"	"760"	"0"	"c.760G>A"	"r.(?)"	"p.(Gly254Arg)"	"11"	""	""
"0000875123"	"00005455"	"90"	"761"	"0"	"761"	"0"	"c.761G>A"	"r.(?)"	"p.(Gly254Glu)"	"11"	""	""
"0000875124"	"00005455"	"90"	"768"	"0"	"768"	"0"	"c.768dup"	"r.(?)"	"p.(Gly257ArgfsTer30)"	"11"	""	""
"0000875125"	"00005455"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	"11"	""	""
"0000875126"	"00005455"	"90"	"770"	"0"	"770"	"0"	"c.770G>T"	"r.(?)"	"p.(Gly257Val)"	"11"	""	""
"0000875127"	"00005455"	"90"	"775"	"0"	"775"	"0"	"c.775del"	"r.(?)"	"p.(Ala259LeufsTer6)"	"11"	""	""
"0000875128"	"00005455"	"90"	"779"	"0"	"779"	"0"	"c.779G>A"	"r.(?)"	"p.(Gly260Asp)"	"11"	""	""
"0000875129"	"00005455"	"90"	"787"	"0"	"787"	"0"	"c.787G>A"	"r.(?)"	"p.(Gly263Arg)"	"11"	""	""
"0000875130"	"00005455"	"90"	"788"	"0"	"788"	"0"	"c.788G>A"	"r.(?)"	"p.(Gly263Glu)"	"11"	""	""
"0000875131"	"00005455"	"90"	"788"	"0"	"788"	"0"	"c.788G>T"	"r.(?)"	"p.(Gly263Val)"	"11"	""	""
"0000875132"	"00005455"	"90"	"796"	"0"	"796"	"0"	"c.796G>A"	"r.(?)"	"p.(Gly266Arg)"	"11"	""	""
"0000875133"	"00005455"	"90"	"797"	"0"	"797"	"0"	"c.797G>A"	"r.(?)"	"p.(Gly266Glu)"	"11"	""	""
"0000875134"	"00005455"	"90"	"797"	"0"	"797"	"0"	"c.797G>T"	"r.(?)"	"p.(Gly266Val)"	"11"	""	""
"0000875135"	"00005455"	"90"	"802"	"0"	"802"	"0"	"c.802del"	"r.(?)"	"p.(Arg268GlufsTer273)"	"11"	""	""
"0000875136"	"00005455"	"90"	"804"	"1"	"804"	"1"	"c.804+1G>A"	"r.spl"	"p.?"	"11i"	""	""
"0000875137"	"00005455"	"70"	"804"	"3"	"804"	"6"	"c.804+3_804+6del"	"r.spl?"	"p.?"	"11i"	""	""
"0000875138"	"00005455"	"90"	"804"	"2"	"804"	"3"	"c.804+2_804+3del"	"r.spl"	"p.?"	"11i"	""	""
"0000875139"	"00005455"	"90"	"805"	"0"	"805"	"0"	"c.805G>A"	"r.(?)"	"p.(Gly269Ser)"	"12"	""	""
"0000875140"	"00005455"	"90"	"806"	"0"	"806"	"0"	"c.806G>T"	"r.(?)"	"p.(Gly269Val)"	"12"	""	""
"0000875141"	"00005455"	"90"	"809"	"0"	"809"	"0"	"c.809dup"	"r.(?)"	"p.(Ser271GlnfsTer16)"	"12"	""	""
"0000875142"	"00005455"	"90"	"809"	"0"	"809"	"0"	"c.809del"	"r.(?)"	"p.(Phe270SerfsTer271)"	"12"	""	""
"0000875143"	"00005455"	"90"	"814"	"0"	"814"	"0"	"c.814G>A"	"r.(?)"	"p.(Gly272Ser)"	"12"	""	""
"0000875144"	"00005455"	"90"	"814"	"0"	"814"	"0"	"c.814G>T"	"r.(?)"	"p.(Gly272Cys)"	"12"	""	""
"0000875145"	"00005455"	"90"	"823"	"0"	"823"	"0"	"c.823G>A"	"r.(?)"	"p.(Gly275Ser)"	"12"	""	""
"0000875146"	"00005455"	"90"	"823"	"0"	"823"	"0"	"c.823G>C"	"r.(?)"	"p.(Gly275Arg)"	"12"	""	""
"0000875147"	"00005455"	"90"	"824"	"0"	"824"	"0"	"c.824G>A"	"r.(?)"	"p.(Gly275Asp)"	"12"	""	""
"0000875148"	"00005455"	"90"	"833"	"0"	"833"	"0"	"c.833G>A"	"r.(?)"	"p.(Gly278Glu)"	"12"	""	""
"0000875149"	"00005455"	"90"	"836"	"0"	"836"	"0"	"c.836dup"	"r.(?)"	"p.(Asp279GlufsTer8)"	"12"	""	""
"0000875150"	"00005455"	"90"	"841"	"0"	"841"	"0"	"c.841G>A"	"r.(?)"	"p.(Gly281Ser)"	"12"	""	""
"0000875151"	"00005455"	"90"	"842"	"0"	"842"	"0"	"c.842G>A"	"r.(?)"	"p.(Gly281Asp)"	"12"	""	""
"0000875152"	"00005455"	"90"	"850"	"0"	"850"	"0"	"c.850G>A"	"r.(?)"	"p.(Gly284Ser)"	"12"	""	""
"0000875153"	"00005455"	"90"	"851"	"0"	"851"	"0"	"c.851G>C"	"r.(?)"	"p.(Gly284Ala)"	"12"	""	""
"0000875154"	"00005455"	"90"	"858"	"1"	"858"	"1"	"c.858+1G>A"	"r.spl"	"p.?"	"12i"	""	""
"0000875155"	"00005455"	"90"	"858"	"1"	"858"	"1"	"c.858+1G>T"	"r.spl"	"p.?"	"12i"	""	""
"0000875156"	"00005455"	"90"	"858"	"1"	"858"	"5"	"c.858+1_858+5del"	"r.spl"	"p.?"	"12I"	""	""
"0000875157"	"00005455"	"90"	"859"	"-2"	"859"	"-2"	"c.859-2A>C"	"r.spl"	"p.?"	"12i"	""	""
"0000875158"	"00005455"	"90"	"859"	"-2"	"859"	"-2"	"c.859-2A>G"	"r.spl"	"p.?"	"12i"	""	""
"0000875159"	"00005455"	"90"	"859"	"-1"	"859"	"-1"	"c.859-1G>A"	"r.spl"	"p.?"	"12i"	""	""
"0000875160"	"00005455"	"90"	"859"	"0"	"859"	"0"	"c.859G>A"	"r.spl?"	"p.(Gly287Ser)"	"13"	""	""
"0000875161"	"00005455"	"90"	"860"	"0"	"860"	"0"	"c.860G>T"	"r.(?)"	"p.(Gly287Val)"	"13"	""	""
"0000875162"	"00005455"	"90"	"862"	"0"	"862"	"0"	"c.862G>T"	"r.(?)"	"p.(Glu288Ter)"	"13"	""	""
"0000875163"	"00005455"	"90"	"869"	"0"	"870"	"0"	"c.869_870delinsAA"	"r.(?)"	"p.(Gly290Glu)"	"13"	""	""
"0000875164"	"00005455"	"90"	"878"	"0"	"878"	"0"	"c.878G>A"	"r.(?)"	"p.(Gly293Asp)"	"13"	""	""
"0000875165"	"00005455"	"90"	"878"	"0"	"878"	"0"	"c.878G>T"	"r.(?)"	"p.(Gly293Val)"	"13"	""	""
"0000875166"	"00005455"	"90"	"887"	"0"	"887"	"0"	"c.887G>T"	"r.(?)"	"p.(Gly296Val)"	"13"	""	""
"0000875167"	"00005455"	"90"	"895"	"0"	"895"	"0"	"c.895G>C"	"r.(?)"	"p.(Gly299Arg)"	"13"	""	""
"0000875168"	"00005455"	"90"	"896"	"0"	"896"	"0"	"c.896G>A"	"r.(?)"	"p.(Gly299Asp)"	"13"	""	""
"0000875169"	"00005455"	"90"	"898"	"0"	"898"	"0"	"c.898C>T"	"r.(?)"	"p.(Gln300Ter)"	"13"	""	""
"0000875170"	"00005455"	"90"	"903"	"1"	"903"	"1"	"c.903+1G>A"	"r.spl"	"p.?"	"13i"	""	""
"0000875171"	"00005455"	"90"	"904"	"-15"	"904"	"-15"	"c.904-15T>A"	"r.(903_904ins904-13_904-1)"	"p.(Gly302ValfsTer12)"	"13i"	""	""
"0000875172"	"00005455"	"90"	"910"	"0"	"910"	"0"	"c.910dup"	"r.(?)"	"p.(Arg304ProfsTer6)"	"14"	""	""
"0000875173"	"00005455"	"90"	"913"	"0"	"913"	"0"	"c.913G>A"	"r.(?)"	"p.(Gly305Ser)"	"14"	""	""
"0000875174"	"00005455"	"90"	"913"	"0"	"913"	"0"	"c.913G>C"	"r.(?)"	"p.(Gly305Arg)"	"14"	""	""
"0000875175"	"00005455"	"90"	"923"	"0"	"923"	"0"	"c.923G>T"	"r.(?)"	"p.(Gly308Val)"	"14"	""	""
"0000875176"	"00005455"	"90"	"931"	"0"	"931"	"0"	"c.931G>C"	"r.(?)"	"p.(Gly311Arg)"	"14"	""	""
"0000875177"	"00005455"	"90"	"932"	"0"	"932"	"0"	"c.932G>A"	"r.(?)"	"p.(Gly311Asp)"	"14"	""	""
"0000875178"	"00005455"	"90"	"932"	"0"	"932"	"0"	"c.932G>T"	"r.(?)"	"p.(Gly311Val)"	"14"	""	""
"0000875179"	"00005455"	"90"	"940"	"0"	"940"	"0"	"c.940G>A"	"r.(?)"	"p.(Gly314Arg)"	"14"	""	""
"0000875180"	"00005455"	"90"	"948"	"0"	"948"	"0"	"c.948del"	"r.(?)"	"p.(Gly317AlafsTer224)"	"14"	""	""
"0000875181"	"00005455"	"90"	"949"	"0"	"949"	"0"	"c.949G>A"	"r.(?)"	"p.(Gly317Ser)"	"14"	""	""
"0000875182"	"00005455"	"90"	"953"	"0"	"953"	"0"	"c.953del"	"r.(?)"	"p.(Pro318LeufsTer223)"	"14"	""	""
"0000875183"	"00005455"	"90"	"957"	"1"	"957"	"1"	"c.957+1G>T"	"r.904_957del"	"p.?"	"14i"	""	""
"0000875184"	"00005455"	"90"	"957"	"2"	"957"	"2"	"c.957+2T>A"	"r.904_957del"	"p.?"	"14i"	""	""
"0000875185"	"00005455"	"30"	"958"	"-18"	"958"	"-15"	"c.958-18_958-15del"	"r.(?)"	"p.(=)"	"14i"	""	""
"0000875186"	"00005455"	"90"	"959"	"0"	"959"	"0"	"c.959del"	"r.spl?"	"p.(Gly320ValfsTer221)"	"15"	""	""
"0000875187"	"00005455"	"90"	"958"	"-1"	"958"	"-1"	"c.958-1G>A"	"r.spl"	"p.?"	"14i"	""	""
"0000875188"	"00005455"	"90"	"959"	"0"	"959"	"0"	"c.959G>A"	"r.(?)"	"p.(Gly320Asp)"	"15"	""	""
"0000875189"	"00005455"	"90"	"959"	"0"	"959"	"0"	"c.959G>T"	"r.(?)"	"p.(Gly320Val)"	"15"	""	""
"0000875190"	"00005455"	"90"	"967"	"0"	"967"	"0"	"c.967G>A"	"r.(?)"	"p.(Gly323Arg)"	"15"	""	""
"0000875191"	"00005455"	"90"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Gly323Ter)"	"15"	""	""
"0000875192"	"00005455"	"90"	"968"	"0"	"968"	"0"	"c.968G>A"	"r.(?)"	"p.(Gly323Glu)"	"15"	""	""
"0000875193"	"00005455"	"90"	"976"	"0"	"976"	"0"	"c.976G>A"	"r.(?)"	"p.(Gly326Ser)"	"15"	""	""
"0000875194"	"00005455"	"90"	"976"	"0"	"976"	"0"	"c.976G>C"	"r.?"	"p.(Gly326Arg)"	"15"	""	""
"0000875195"	"00005455"	"90"	"977"	"0"	"977"	"0"	"c.977G>A"	"r.(?)"	"p.(Gly326Asp)"	"15"	""	""
"0000875196"	"00005455"	"90"	"972"	"0"	"978"	"0"	"c.972_978dup"	"r.(?)"	"p.(Ala327Ter)"	"15"	""	""
"0000875197"	"00005455"	"90"	"982"	"0"	"983"	"0"	"c.982_983dup"	"r.(?)"	"p.(Gly329LeufsTer213)"	"15"	""	""
"0000875198"	"00005455"	"90"	"983"	"0"	"984"	"0"	"c.983_984dup"	"r.(?)"	"p.(Gly329LeufsTer213)"	"15"	""	""
"0000875199"	"00005455"	"90"	"986"	"0"	"991"	"0"	"c.986_991del"	"r.(?)"	"p.(Gly329_Ala330del)"	"15"	""	""
"0000875200"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	"15"	""	""
"0000875201"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>C"	"r.(?)"	"p.(Gly332Arg)"	"15"	""	""
"0000875202"	"00005455"	"90"	"995"	"0"	"995"	"0"	"c.995G>C"	"r.(?)"	"p.(Gly332Ala)"	"15"	""	""
"0000875203"	"00005455"	"90"	"1001"	"0"	"1001"	"0"	"c.1001dup"	"r.(?)"	"p.(Gly335TrpfsTer18)"	"15"	""	""
"0000875204"	"00005455"	"50"	"996"	"0"	"998"	"0"	"c.996_998del"	"r.(?)"	"p.(Pro334del)"	"15"	""	""
"0000875205"	"00005455"	"90"	"997"	"0"	"998"	"0"	"c.997_998delinsG"	"r.(?)"	"p.(Pro333AlafsTer208)"	"15"	""	""
"0000875206"	"00005455"	"90"	"994"	"0"	"1001"	"0"	"c.994_1001del"	"r.(?)"	"p.(Gly332TrpfsTer18)"	"15"	""	""
"0000875207"	"00005455"	"90"	"1002"	"2"	"1002"	"2"	"c.1002+2T>C"	"r.spl"	"p.?"	"15i"	""	""
"0000875208"	"00005455"	"90"	"1002"	"5"	"1002"	"5"	"c.1002+5del"	"r.spl?"	"p.?"	"15i"	""	""
"0000875209"	"00005455"	"90"	"1002"	"5"	"1002"	"5"	"c.1002+5G>A"	"r.spl?"	"p.?"	"15i"	""	""
"0000875210"	"00005455"	"30"	"1003"	"-43"	"1003"	"-32"	"c.1003-43_1003-32del"	"r.(=)"	"p.(=)"	"15i"	""	""
"0000875211"	"00005455"	"90"	"1003"	"-2"	"1003"	"-2"	"c.1003-2A>G"	"r.spl"	"p.?"	"15i"	""	""
"0000875212"	"00005455"	"90"	"1003"	"-1"	"1003"	"-1"	"c.1003-1G>A"	"r.spl"	"p.?"	"15i"	""	""
"0000875213"	"00005455"	"90"	"1003"	"-1"	"1003"	"-1"	"c.1003-1G>C"	"r.spl"	"p.?"	"15i"	""	""
"0000875214"	"00005455"	"90"	"1003"	"0"	"1003"	"0"	"c.1003G>A"	"r.spl?"	"p.(Gly335Ser)"	"16"	""	""
"0000875215"	"00005455"	"90"	"1012"	"0"	"1012"	"0"	"c.1012G>A"	"r.(?)"	"p.(Gly338Ser)"	"16"	""	""
"0000875216"	"00005455"	"90"	"1012"	"0"	"1012"	"0"	"c.1012G>T"	"r.(?)"	"p.(Gly338Cys)"	"16"	""	""
"0000875217"	"00005455"	"90"	"1017"	"0"	"1017"	"0"	"c.1017del"	"r.(?)"	"p.(Ala340LeufsTer201)"	"16"	""	""
"0000875218"	"00005455"	"90"	"1021"	"0"	"1021"	"0"	"c.1021G>C"	"r.(?)"	"p.(Gly341Arg)"	"16"	""	""
"0000875219"	"00005455"	"90"	"1021"	"0"	"1021"	"0"	"c.1021G>T"	"r.(?)"	"p.(Gly341Cys)"	"16"	""	""
"0000875220"	"00005455"	"90"	"1028"	"0"	"1028"	"0"	"c.1028del"	"r.(?)"	"p.(Pro343LeufsTer198)"	"16"	""	""
"0000875221"	"00005455"	"90"	"1031"	"0"	"1031"	"0"	"c.1031G>A"	"r.(?)"	"p.(Gly344Asp)"	"16"	""	""
"0000875222"	"00005455"	"90"	"1031"	"0"	"1031"	"0"	"c.1031G>T"	"r.(?)"	"p.(Gly344Val)"	"16"	""	""
"0000875223"	"00005455"	"90"	"1040"	"0"	"1040"	"0"	"c.1040G>A"	"r.(?)"	"p.(Gly347Asp)"	"16"	""	""
"0000875224"	"00005455"	"50"	"1045"	"0"	"1045"	"0"	"c.1045G>T"	"r.(?)"	"p.(Val349Phe)"	"16"	""	""
"0000875225"	"00005455"	"90"	"1048"	"0"	"1048"	"0"	"c.1048G>C"	"r.(?)"	"p.(Gly350Arg)"	"16"	""	""
"0000875226"	"00005455"	"90"	"1056"	"1"	"1056"	"1"	"c.1056+1G>A"	"r.spl"	"p.?"	"16i"	""	""
"0000875227"	"00005455"	"90"	"1054"	"0"	"1056"	"2"	"c.1054_1056+2del"	"r.spl"	"p.?"	"16_16i"	""	""
"0000875228"	"00005455"	"90"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>C"	"r.spl"	"p.?"	"16i"	""	""
"0000875229"	"00005455"	"90"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>G"	"r.spl"	"p.?"	"16i"	""	""
"0000875230"	"00005455"	"90"	"1057"	"-2"	"1057"	"-2"	"c.1057-2A>T"	"r.spl"	"p.?"	"16i"	""	""
"0000875231"	"00005455"	"90"	"1057"	"-1"	"1057"	"-1"	"c.1057-1G>T"	"r.spl"	"p.?"	"16i"	""	""
"0000875232"	"00005455"	"90"	"1057"	"0"	"1057"	"0"	"c.1057G>A"	"r.spl?"	"p.(Gly353Ser)"	"17"	""	""
"0000875233"	"00005455"	"90"	"1057"	"0"	"1057"	"0"	"c.1057G>T"	"r.spl?"	"p.(Gly353Cys)"	"17"	""	""
"0000875234"	"00005455"	"90"	"1058"	"0"	"1058"	"0"	"c.1058G>A"	"r.(?)"	"p.(Gly353Asp)"	"17"	""	""
"0000875235"	"00005455"	"90"	"1066"	"0"	"1066"	"0"	"c.1066G>A"	"r.(?)"	"p.(Gly356Ser)"	"17"	""	""
"0000875236"	"00005455"	"90"	"1066"	"0"	"1066"	"0"	"c.1066G>T"	"r.(?)"	"p.(Gly356Cys)"	"17"	""	""
"0000875237"	"00005455"	"90"	"1065"	"0"	"1069"	"0"	"c.1065_1069del"	"r.(?)"	"p.(Gly356ProfsTer7)"	"17"	""	""
"0000875238"	"00005455"	"90"	"1072"	"0"	"1072"	"0"	"c.1072del"	"r.(?)"	"p.(Gln358LysfsTer183)"	"17"	""	""
"0000875239"	"00005455"	"90"	"1072"	"0"	"1072"	"0"	"c.1072C>T"	"r.(?)"	"p.(Gln358Ter)"	"17"	""	""
"0000875240"	"00005455"	"90"	"1075"	"0"	"1075"	"0"	"c.1075G>A"	"r.(?)"	"p.(Gly359Arg)"	"17"	""	""
"0000875241"	"00005455"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361Ter)"	"17"	""	""
"0000875242"	"00005455"	"70"	"1082"	"0"	"1082"	"0"	"c.1082G>A"	"r.(?)"	"p.(Arg361Gln)"	"17"	""	""
"0000875243"	"00005455"	"90"	"1084"	"0"	"1084"	"0"	"c.1084G>A"	"r.(?)"	"p.(Gly362Ser)"	"17"	""	""
"0000875244"	"00005455"	"90"	"1084"	"0"	"1084"	"0"	"c.1084G>C"	"r.(?)"	"p.(Gly362Ser)"	"17"	""	""
"0000875245"	"00005455"	"90"	"1093"	"0"	"1093"	"0"	"c.1093G>A"	"r.(?)"	"p.(Gly365Ser)"	"17"	""	""
"0000875246"	"00005455"	"90"	"1094"	"0"	"1094"	"0"	"c.1094G>C"	"r.(?)"	"p.(Gly365Ala)"	"17"	""	""
"0000875247"	"00005455"	"90"	"1094"	"0"	"1094"	"0"	"c.1094G>T"	"r.(?)"	"p.(Gly365Val)"	"17"	""	""
"0000875248"	"00005455"	"90"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Gln367Ter)"	"17"	""	""
"0000875249"	"00005455"	"90"	"1086"	"0"	"1102"	"0"	"c.1086_1102del"	"r.(?)"	"p.(Ser363CysfsTer4)"	"17"	""	""
"0000875250"	"00005455"	"90"	"1102"	"0"	"1102"	"0"	"c.1102G>A"	"r.(?)"	"p.(Gly368Ser)"	"17"	""	""
"0000875251"	"00005455"	"90"	"1103"	"0"	"1103"	"0"	"c.1103G>A"	"r.(?)"	"p.(Gly368Asp)"	"17"	""	""
"0000875252"	"00005455"	"90"	"1103"	"0"	"1103"	"0"	"c.1103G>C"	"r.(?)"	"p.(Gly368Ala)"	"17"	""	""
"0000875253"	"00005455"	"90"	"1103"	"0"	"1103"	"0"	"c.1103G>T"	"r.(?)"	"p.(Gly368Val)"	"17"	""	""
"0000875254"	"00005455"	"90"	"1111"	"0"	"1111"	"0"	"c.1111G>A"	"r.(?)"	"p.(Gly371Ser)"	"17"	""	""
"0000875255"	"00005455"	"30"	"1113"	"0"	"1113"	"0"	"c.1113T>C"	"r.(?)"	"p.(Gly371=)"	"17"	""	""
"0000875256"	"00005455"	"90"	"1121"	"0"	"1121"	"0"	"c.1121G>C"	"r.(?)"	"p.(Gly374Ala)"	"17"	""	""
"0000875257"	"00005455"	"90"	"1127"	"0"	"1127"	"0"	"c.1127dup"	"r.(?)"	"p.(Gly377TrpfsTer15)"	"17"	""	""
"0000875258"	"00005455"	"90"	"1127"	"0"	"1127"	"0"	"c.1127del"	"r.(?)"	"p.(Pro376LeufsTer165)"	"17"	""	""
"0000875259"	"00005455"	"90"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377AlafsTer164)"	"17"	""	""
"0000875260"	"00005455"	"90"	"1129"	"0"	"1129"	"0"	"c.1129G>A"	"r.(?)"	"p.(Gly377Ser)"	"17"	""	""
"0000875261"	"00005455"	"90"	"1128"	"0"	"1129"	"0"	"c.1128_1129insC"	"r.(?)"	"p.(Gly377ArgfsTer15)"	"17"	""	""
"0000875262"	"00005455"	"90"	"1130"	"0"	"1130"	"0"	"c.1130G>C"	"r.(?)"	"p.(Gly377Ala)"	"17"	""	""
"0000875263"	"00005455"	"90"	"1138"	"0"	"1138"	"0"	"c.1138G>A"	"r.(?)"	"p.(Gly380Ser)"	"17"	""	""
"0000875264"	"00005455"	"90"	"1138"	"0"	"1138"	"0"	"c.1138G>T"	"r.(?)"	"p.(Gly380Cys)"	"17"	""	""
"0000875265"	"00005455"	"90"	"1139"	"0"	"1139"	"0"	"c.1139G>T"	"r.(?)"	"p.(Gly380Val)"	"17"	""	""
"0000875266"	"00005455"	"90"	"1147"	"0"	"1147"	"0"	"c.1147G>A"	"r.(?)"	"p.(Gly383Ser)"	"17"	""	""
"0000875267"	"00005455"	"90"	"1147"	"0"	"1147"	"0"	"c.1147G>T"	"r.(?)"	"p.(Gly383Cys)"	"17"	""	""
"0000875268"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>A"	"r.spl"	"p.?"	"17i"	""	""
"0000875269"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl"	"p.?"	"17i"	""	""
"0000875270"	"00005455"	"90"	"1155"	"2"	"1155"	"2"	"c.1155+2T>G"	"r.spl"	"p.?"	"17i"	""	""
"0000875271"	"00005455"	"90"	"1155"	"4"	"1155"	"4"	"c.1155+4del"	"r.(1057_1155del)"	"p.(Gly353_Ala385del)"	"17i"	""	""
"0000875272"	"00005455"	"70"	"1155"	"3"	"1155"	"6"	"c.1155+3_1155+6del"	"r.spl?"	"p.?"	"17i"	""	""
"0000875273"	"00005455"	"70"	"1155"	"5"	"1155"	"5"	"c.1155+5G>C"	"r.spl"	"p.?"	"17i"	""	""
"0000875274"	"00005455"	"70"	"1155"	"4"	"1155"	"7"	"c.1155+4_1155+7del"	"r.spl"	"p.?"	"17i"	""	""
"0000875275"	"00005455"	"30"	"1156"	"-18"	"1156"	"-18"	"c.1156-18C>T"	"r.(?)"	"p.(=)"	"17i"	""	""
"0000875276"	"00005455"	"90"	"1156"	"-1"	"1156"	"-1"	"c.1156-1G>A"	"r.spl?"	"p.?"	"17i"	""	""
"0000875277"	"00005455"	"90"	"1163"	"0"	"1163"	"0"	"c.1163del"	"r.(?)"	"p.(Pro388LeufsTer153)"	"18"	""	""
"0000875278"	"00005455"	"90"	"1165"	"0"	"1165"	"0"	"c.1165G>A"	"r.(?)"	"p.(Gly389Ser)"	"18"	""	""
"0000875279"	"00005455"	"90"	"1165"	"0"	"1165"	"0"	"c.1165G>C"	"r.(?)"	"p.(Gly389Arg)"	"18"	""	""
"0000875280"	"00005455"	"90"	"1165"	"0"	"1165"	"0"	"c.1165G>T"	"r.(?)"	"p.(Gly389Cys)"	"18"	""	""
"0000875281"	"00005455"	"90"	"1166"	"0"	"1166"	"0"	"c.1166G>C"	"r.(?)"	"p.(Gly389Ala)"	"18"	""	""
"0000875282"	"00005455"	"10"	"1168"	"0"	"1168"	"0"	"c.1168G>A"	"r.(?)"	"p.(Ala390Thr)"	"18"	""	""
"0000875283"	"00005455"	"90"	"1174"	"0"	"1174"	"0"	"c.1174G>A"	"r.(?)"	"p.(Gly392Arg)"	"18"	""	""
"0000875284"	"00005455"	"90"	"1175"	"0"	"1175"	"0"	"c.1175G>A"	"r.(?)"	"p.(Gly392Glu)"	"18"	""	""
"0000875285"	"00005455"	"90"	"1183"	"0"	"1183"	"0"	"c.1183G>A"	"r.(?)"	"p.(Gly395Ser)"	"18"	""	""
"0000875286"	"00005455"	"70"	"1186"	"0"	"1186"	"0"	"c.1186G>A"	"r.(?)"	"p.(Ala396Thr)"	"18"	""	""
"0000875287"	"00005455"	"90"	"1192"	"0"	"1192"	"0"	"c.1192G>A"	"r.(?)"	"p.(Gly398Ser)"	"18"	""	""
"0000875288"	"00005455"	"90"	"1192"	"0"	"1192"	"0"	"c.1192G>T"	"r.(?)"	"p.(Gly398Cys)"	"18"	""	""
"0000875289"	"00005455"	"90"	"1193"	"0"	"1193"	"0"	"c.1193G>A"	"r.(?)"	"p.(Gly398Asp)"	"18"	""	""
"0000875290"	"00005455"	"90"	"1193"	"0"	"1193"	"0"	"c.1193G>C"	"r.(?)"	"p.(Gly398Ala)"	"18"	""	""
"0000875291"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>A"	"r.spl"	"p.?"	"18i"	""	""
"0000875292"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>C"	"r.spl"	"p.?"	"18i"	""	""
"0000875293"	"00005455"	"90"	"1200"	"1"	"1200"	"1"	"c.1200+1G>T"	"r.spl"	"p.?"	"18i"	""	""
"0000875294"	"00005455"	"90"	"1200"	"1"	"1200"	"2"	"c.1200+1_1200+2del"	"r.spl?"	"p.?"	"18i"	""	""
"0000875295"	"00005455"	"30"	"1200"	"3"	"1200"	"3"	"c.1200+3A>G"	"r.spl?"	"p.?"	"18i"	""	""
"0000875296"	"00005455"	"50"	"1200"	"5"	"1200"	"5"	"c.1200+5G>A"	"r.spl?"	"p.?"	"18i"	""	""
"0000875297"	"00005455"	"90"	"1201"	"-1"	"1201"	"-1"	"c.1201-1G>A"	"r.spl"	"p.?"	"18i"	""	""
"0000875298"	"00005455"	"90"	"1201"	"0"	"1201"	"0"	"c.1201G>A"	"r.spl?"	"p.(Gly401Ser)"	"19"	""	""
"0000875299"	"00005455"	"90"	"1201"	"0"	"1201"	"0"	"c.1201G>T"	"r.spl?"	"p.(Gly401Cys)"	"19"	""	""
"0000875300"	"00005455"	"90"	"1201"	"0"	"1202"	"0"	"c.1201_1202del"	"r.spl?"	"p.(Gly401CysfsTer31)"	"19"	""	""
"0000875301"	"00005455"	"90"	"1202"	"0"	"1202"	"0"	"c.1202G>A"	"r.(?)"	"p.(Gly401Asp)"	"19"	""	""
"0000875302"	"00005455"	"50"	"1205"	"0"	"1205"	"0"	"c.1205C>T"	"r.(?)"	"p.(Ala402Val)"	"19"	""	""
"0000875303"	"00005455"	"90"	"1210"	"0"	"1210"	"0"	"c.1210G>A"	"r.(?)"	"p.(Gly404Ser)"	"19"	""	""
"0000875304"	"00005455"	"90"	"1210"	"0"	"1210"	"0"	"c.1210G>T"	"r.(?)"	"p.(Gly404Cys)"	"19"	""	""
"0000875305"	"00005455"	"90"	"1211"	"0"	"1211"	"0"	"c.1211G>A"	"r.(?)"	"p.(Gly404Asp)"	"19"	""	""
"0000875306"	"00005455"	"90"	"1211"	"0"	"1211"	"0"	"c.1211G>C"	"r.(?)"	"p.(Gly404Ala)"	"19"	""	""
"0000875307"	"00005455"	"90"	"1219"	"0"	"1219"	"0"	"c.1219G>A"	"r.(?)"	"p.(Gly407Ser)"	"19"	""	""
"0000875308"	"00005455"	"90"	"1219"	"0"	"1219"	"0"	"c.1219G>T"	"r.(?)"	"p.(Gly407Cys)"	"19"	""	""
"0000875309"	"00005455"	"90"	"1222"	"0"	"1222"	"0"	"c.1222G>A"	"r.(?)"	"p.(Gly410Ser)"	"19"	""	""
"0000875310"	"00005455"	"90"	"1222"	"0"	"1224"	"0"	"c.1222_1224del"	"r.(?)"	"p.(Ala408del)"	"19"	""	""
"0000875311"	"00005455"	"90"	"1228"	"0"	"1228"	"0"	"c.1228G>A"	"r.(?)"	"p.(Gly410Ser)"	"19"	""	""
"0000875312"	"00005455"	"30"	"1233"	"0"	"1233"	"0"	"c.1233C>T"	"r.(?)"	"p.(Phe411=)"	"19"	""	""
"0000875313"	"00005455"	"70"	"1235"	"0"	"1235"	"0"	"c.1235C>G"	"r.(?)"	"p.(Pro412Arg)"	"19"	""	""
"0000875314"	"00005455"	"90"	"1238"	"0"	"1238"	"0"	"c.1238G>A"	"r.(?)"	"p.(Gly413Asp)"	"19"	""	""
"0000875315"	"00005455"	"90"	"1238"	"0"	"1238"	"0"	"c.1238G>C"	"r.(?)"	"p.(Gly413Ala)"	"19"	""	""
"0000875316"	"00005455"	"90"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415Ter)"	"19"	""	""
"0000875317"	"00005455"	"90"	"1251"	"0"	"1251"	"0"	"c.1251del"	"r.(?)"	"p.(Ser418LeufsTer123)"	"19"	""	""
"0000875318"	"00005455"	"70"	"1249"	"0"	"1249"	"0"	"c.1249C>G"	"r.(?)"	"p.(Pro417Ala)"	"19"	""	""
"0000875319"	"00005455"	"90"	"1252"	"0"	"1252"	"0"	"c.1252del"	"r.(?)"	"p.(Ser418LeufsTer123)"	"19"	""	""
"0000875320"	"00005455"	"90"	"1256"	"0"	"1256"	"0"	"c.1256G>A"	"r.(?)"	"p.(Gly419Glu)"	"19"	""	""
"0000875321"	"00005455"	"90"	"1265"	"0"	"1265"	"0"	"c.1265del"	"r.(?)"	"p.(Gly422AlafsTer119)"	"19"	""	""
"0000875322"	"00005455"	"90"	"1264"	"0"	"1264"	"0"	"c.1264G>T"	"r.(?)"	"p.(Gly422Cys)"	"19"	""	""
"0000875323"	"00005455"	"90"	"1265"	"0"	"1265"	"0"	"c.1265G>C"	"r.(?)"	"p.(Gly422Ala)"	"19"	""	""
"0000875324"	"00005455"	"90"	"1262"	"0"	"1269"	"0"	"c.1262_1269dup"	"r.(?)"	"p.(Gly424ArgfsTer120)"	"19"	""	""
"0000875325"	"00005455"	"90"	"1269"	"0"	"1269"	"0"	"c.1269del"	"r.(?)"	"p.(Gly424AlafsTer117)"	"19"	""	""
"0000875326"	"00005455"	"30"	"1269"	"0"	"1269"	"0"	"c.1269C>T"	"r.(?)"	"p.(Pro423=)"	"19"	""	""
"0000875327"	"00005455"	"90"	"1273"	"0"	"1273"	"0"	"c.1273G>A"	"r.(?)"	"p.(Gly425Ser)"	"19"	""	""
"0000875328"	"00005455"	"90"	"1282"	"0"	"1282"	"0"	"c.1282G>T"	"r.(?)"	"p.(Gly428Cys)"	"19"	""	""
"0000875329"	"00005455"	"90"	"1292"	"0"	"1292"	"0"	"c.1292del"	"r.(?)"	"p.(Gly431ValfsTer110)"	"19"	""	""
"0000875330"	"00005455"	"90"	"1290"	"0"	"1290"	"0"	"c.1290del"	"r.(?)"	"p.(Gly431ValfsTer110)"	"19"	""	""
"0000875331"	"00005455"	"90"	"1292"	"0"	"1292"	"0"	"c.1292G>T"	"r.(?)"	"p.(Gly431Val)"	"19"	""	""
"0000875332"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000875333"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>C"	"r.spl"	"p.?"	"19i"	""	""
"0000875334"	"00005455"	"90"	"1299"	"1"	"1299"	"1"	"c.1299+1G>T"	"r.spl"	"p.?"	"19i"	""	""
"0000875335"	"00005455"	"70"	"1299"	"5"	"1299"	"5"	"c.1299+5G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000875336"	"00005455"	"30"	"1300"	"-9"	"1300"	"-9"	"c.1300-9C>G"	"r.(?)"	"p.(=)"	"19i"	""	""
"0000875337"	"00005455"	"30"	"1300"	"-9"	"1300"	"-9"	"c.1300-9C>T"	"r.(?)"	"p.(=)"	"19i"	""	""
"0000875338"	"00005455"	"30"	"1300"	"-8"	"1300"	"-8"	"c.1300-8C>G"	"r.(?)"	"p.(=)"	"19i"	""	""
"0000875339"	"00005455"	"30"	"1300"	"-8"	"1300"	"-8"	"c.1300-8C>T"	"r.(?)"	"p.(=)"	"19i"	""	""
"0000875340"	"00005455"	"90"	"1300"	"-1"	"1300"	"-1"	"c.1300-1G>A"	"r.spl"	"p.?"	"19i"	""	""
"0000875341"	"00005455"	"90"	"1301"	"0"	"1301"	"0"	"c.1301G>T"	"r.(?)"	"p.(Gly434Val)"	"20"	""	""
"0000875342"	"00005455"	"90"	"1310"	"0"	"1310"	"0"	"c.1310del"	"r.(?)"	"p.(Gly437ValfsTer104)"	"20"	""	""
"0000875343"	"00005455"	"90"	"1309"	"0"	"1309"	"0"	"c.1309G>T"	"r.(?)"	"p.(Gly437Cys)"	"20"	""	""
"0000875344"	"00005455"	"90"	"1310"	"0"	"1310"	"0"	"c.1310G>A"	"r.(?)"	"p.(Gly437Asp)"	"20"	""	""
"0000875345"	"00005455"	"90"	"1310"	"0"	"1310"	"0"	"c.1310G>C"	"r.(?)"	"p.(Gly437Ala)"	"20"	""	""
"0000875346"	"00005455"	"90"	"1316"	"0"	"1316"	"0"	"c.1316del"	"r.(?)"	"p.(Pro439LeufsTer102)"	"20"	""	""
"0000875347"	"00005455"	"70"	"1316"	"0"	"1316"	"0"	"c.1316C>T"	"r.(?)"	"p.(Pro439Leu)"	"20"	""	""
"0000875348"	"00005455"	"90"	"1319"	"0"	"1319"	"0"	"c.1319G>C"	"r.(?)"	"p.(Gly440Ala)"	"20"	""	""
"0000875349"	"00005455"	"90"	"1337"	"0"	"1337"	"0"	"c.1337G>A"	"r.(?)"	"p.(Gly446Asp)"	"20"	""	""
"0000875350"	"00005455"	"70"	"1350"	"0"	"1350"	"0"	"c.1350G>C"	"r.(?)"	"p.(Glu450Asp)"	"20"	""	""
"0000875351"	"00005455"	"90"	"1353"	"1"	"1353"	"1"	"c.1353+1G>A"	"r.spl"	"p.?"	"20i"	""	""
"0000875352"	"00005455"	"90"	"1353"	"1"	"1353"	"1"	"c.1353+1G>C"	"r.spl"	"p.?"	"20i"	""	""
"0000875353"	"00005455"	"90"	"1353"	"1"	"1353"	"1"	"c.1353+1G>T"	"r.spl"	"p.?"	"20i"	""	""
"0000875354"	"00005455"	"90"	"1353"	"2"	"1353"	"2"	"c.1353+2T>C"	"r.spl"	"p.?"	"20i"	""	""
"0000875355"	"00005455"	"90"	"1353"	"2"	"1353"	"2"	"c.1353+2T>G"	"r.spl"	"p.?"	"20i"	""	""
"0000875356"	"00005455"	"90"	"1353"	"5"	"1353"	"5"	"c.1353+5G>C"	"r.1300_1353del"	"p.?"	"20i"	""	""
"0000875357"	"00005455"	"70"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.(1353_1354ins1354-10_1354-1)"	"p.(Gly452Profs*26)"	"20i"	""	""
"0000875358"	"00005455"	"90"	"1354"	"-2"	"1354"	"-2"	"c.1354-2A>C"	"r.spl"	"p.?"	"20i"	""	""
"0000875359"	"00005455"	"90"	"1354"	"-2"	"1354"	"-2"	"c.1354-2A>G"	"r.spl"	"p.?"	"20i"	""	""
"0000875360"	"00005455"	"90"	"1354"	"-1"	"1354"	"-1"	"c.1354-1G>A"	"r.spl"	"p.?"	"20i"	""	""
"0000875361"	"00005455"	"90"	"1354"	"-1"	"1354"	"-1"	"c.1354-1G>T"	"r.spl"	"p.?"	"20i"	""	""
"0000875362"	"00005455"	"90"	"1354"	"0"	"1354"	"0"	"c.1354G>A"	"r.spl?"	"p.(Gly452Ser)"	"21"	""	""
"0000875363"	"00005455"	"90"	"1363"	"0"	"1363"	"0"	"c.1363G>T"	"r.(?)"	"p.(Gly455Cys)"	"21"	""	""
"0000875364"	"00005455"	"90"	"1364"	"0"	"1364"	"0"	"c.1364G>A"	"r.(?)"	"p.(Gly455Asp)"	"21"	""	""
"0000875365"	"00005455"	"70"	"1375"	"0"	"1375"	"0"	"c.1375C>T"	"r.(?)"	"p.(Pro459Ser)"	"21"	""	""
"0000875366"	"00005455"	"90"	"1379"	"0"	"1379"	"0"	"c.1379dup"	"r.(?)"	"p.(Gly461TrpfsTer14)"	"21"	""	""
"0000875367"	"00005455"	"90"	"1379"	"0"	"1379"	"0"	"c.1379del"	"r.(?)"	"p.(Pro460LeufsTer81)"	"21"	""	""
"0000875368"	"00005455"	"90"	"1380"	"0"	"1380"	"0"	"c.1380dup"	"r.(?)"	"p.(Gly461TrpfsTer14)"	"21"	""	""
"0000875369"	"00005455"	"90"	"1380"	"0"	"1380"	"0"	"c.1380del"	"r.(?)"	"p.(Gly461AlafsTer80)"	"21"	""	""
"0000875370"	"00005455"	"90"	"1382"	"0"	"1382"	"0"	"c.1382del"	"r.(?)"	"p.(Gly461AlafsTer80)"	"21"	""	""
"0000875371"	"00005455"	"90"	"1381"	"0"	"1381"	"0"	"c.1381G>A"	"r.(?)"	"p.(Gly461Ser)"	"21"	""	""
"0000875372"	"00005455"	"90"	"1390"	"0"	"1390"	"0"	"c.1390G>A"	"r.(?)"	"p.(Gly464Arg)"	"21"	""	""
"0000875373"	"00005455"	"90"	"1391"	"0"	"1391"	"0"	"c.1391G>A"	"r.(?)"	"p.(Gly464Glu)"	"21"	""	""
"0000875374"	"00005455"	"90"	"1409"	"0"	"1409"	"0"	"c.1409G>C"	"r.(?)"	"p.(Gly470Ala)"	"21"	""	""
"0000875375"	"00005455"	"90"	"1409"	"0"	"1409"	"0"	"c.1409G>T"	"r.(?)"	"p.(Gly470Val)"	"21"	""	""
"0000875376"	"00005455"	"90"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472Ter)"	"21"	""	""
"0000875377"	"00005455"	"70"	"1423"	"0"	"1423"	"0"	"c.1423C>A"	"r.(?)"	"p.(Pro475Thr)"	"21"	""	""
"0000875378"	"00005455"	"90"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Gly476Arg)"	"21"	""	""
"0000875379"	"00005455"	"90"	"1426"	"0"	"1426"	"0"	"c.1426G>C"	"r.(?)"	"p.(Gly476Arg)"	"21"	""	""
"0000875380"	"00005455"	"90"	"1426"	"0"	"1426"	"0"	"c.1426G>T"	"r.(?)"	"p.(Gly476Ter)"	"21"	""	""
"0000875381"	"00005455"	"90"	"1444"	"0"	"1444"	"0"	"c.1444G>A"	"r.(?)"	"p.(Gly482Arg)"	"21"	""	""
"0000875382"	"00005455"	"90"	"1445"	"0"	"1445"	"0"	"c.1445G>C"	"r.(?)"	"p.(Gly482Ala)"	"21"	""	""
"0000875383"	"00005455"	"90"	"1451"	"0"	"1451"	"0"	"c.1451del"	"r.(?)"	"p.(Pro484LeufsTer57)"	"21"	""	""
"0000875384"	"00005455"	"90"	"1452"	"0"	"1452"	"0"	"c.1452del"	"r.(?)"	"p.(Gly485AlafsTer56)"	"21"	""	""
"0000875385"	"00005455"	"90"	"1461"	"1"	"1461"	"1"	"c.1461+1G>A"	"r.spl"	"p.?"	"21i"	""	""
"0000875386"	"00005455"	"90"	"1461"	"1"	"1461"	"1"	"c.1461+1G>C"	"r.spl"	"p.?"	"21i"	""	""
"0000875387"	"00005455"	"70"	"1461"	"5"	"1461"	"5"	"c.1461+5G>A"	"r.1354_1461del"	"p.?"	"21i"	""	""
"0000875388"	"00005455"	"30"	"1461"	"13"	"1461"	"13"	"c.1461+13G>T"	"r.(?)"	"p.(=)"	"21i"	""	""
"0000875389"	"00005455"	"90"	"1462"	"-3"	"1462"	"-3"	"c.1462-3C>G"	"r.1462_1515del"	"p.?"	"21i"	""	""
"0000875390"	"00005455"	"90"	"1462"	"-2"	"1462"	"-2"	"c.1462-2A>G"	"r.spl"	"p.?"	"21i"	""	""
"0000875391"	"00005455"	"90"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Gly491Ser)"	"22"	""	""
"0000875392"	"00005455"	"90"	"1471"	"0"	"1471"	"0"	"c.1471G>T"	"r.(?)"	"p.(Gly491Cys)"	"22"	""	""
"0000875393"	"00005455"	"90"	"1486"	"0"	"1487"	"0"	"c.1486_1487del"	"r.(?)"	"p.(Pro496TrpfsTer14)"	"22"	""	""
"0000875394"	"00005455"	"90"	"1497"	"0"	"1498"	"0"	"c.1497_1498dup"	"r.(?)"	"p.(Gly500ValfsTer42)"	"22"	""	""
"0000875395"	"00005455"	"90"	"1503"	"0"	"1503"	"0"	"c.1503del"	"r.(?)"	"p.(Ala502LeufsTer39)"	"22"	""	""
"0000875396"	"00005455"	"90"	"1507"	"0"	"1507"	"0"	"c.1507G>T"	"r.(?)"	"p.(Gly503Cys)"	"22"	""	""
"0000875397"	"00005455"	"70"	"1515"	"3"	"1515"	"3"	"c.1515+3A>G"	"r.spl?"	"p.?"	"22i"	""	""
"0000875398"	"00005455"	"90"	"1516"	"-2"	"1516"	"-2"	"c.1516-2A>G"	"r.spl"	"p.?"	"22i"	""	""
"0000875399"	"00005455"	"90"	"1516"	"-1"	"1516"	"-1"	"c.1516-1G>C"	"r.spl"	"p.?"	"22i"	""	""
"0000875400"	"00005455"	"90"	"1516"	"-1"	"1516"	"-1"	"c.1516-1G>T"	"r.spl"	"p.?"	"22i"	""	""
"0000875401"	"00005455"	"59"	"1522"	"0"	"1522"	"0"	"c.1522G>A"	"r.(?)"	"p.(Ala508Thr)"	"23"	""	""
"0000875402"	"00005455"	"90"	"1526"	"0"	"1526"	"0"	"c.1526G>T"	"r.(?)"	"p.(Gly509Val)"	"23"	""	""
"0000875403"	"00005455"	"30"	"1548"	"0"	"1548"	"0"	"c.1548T>C"	"r.(?)"	"p.(Pro516=)"	"23"	""	""
"0000875404"	"00005455"	"90"	"1562"	"0"	"1562"	"0"	"c.1562G>A"	"r.(?)"	"p.(Gly521Glu)"	"23"	""	""
"0000875405"	"00005455"	"90"	"1573"	"0"	"1573"	"0"	"c.1573del"	"r.(?)"	"p.(Glu525LysfsTer16)"	"23"	""	""
"0000875406"	"00005455"	"90"	"1579"	"0"	"1579"	"0"	"c.1579G>T"	"r.(?)"	"p.(Gly527Cys)"	"23"	""	""
"0000875407"	"00005455"	"90"	"1580"	"0"	"1580"	"0"	"c.1580G>A"	"r.(?)"	"p.(Gly527Asp)"	"23"	""	""
"0000875408"	"00005455"	"90"	"1580"	"0"	"1580"	"0"	"c.1580G>C"	"r.(?)"	"p.(Gly527Ala)"	"23"	""	""
"0000875409"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	""	""
"0000875410"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>T"	"r.(?)"	"p.(Gly530Cys)"	"23"	""	""
"0000875411"	"00005455"	"90"	"1597"	"0"	"1597"	"0"	"c.1597G>T"	"r.(?)"	"p.(Gly533Cys)"	"23"	""	""
"0000875412"	"00005455"	"90"	"1598"	"0"	"1598"	"0"	"c.1598G>A"	"r.(?)"	"p.(Gly533Asp)"	"23"	""	""
"0000875413"	"00005455"	"90"	"1598"	"0"	"1598"	"0"	"c.1598G>C"	"r.(?)"	"p.(Gly533Ala)"	"23"	""	""
"0000875414"	"00005455"	"70"	"1601"	"0"	"1601"	"0"	"c.1601T>A"	"r.(?)"	"p.(Leu534Gln)"	"23"	""	""
"0000875415"	"00005455"	"90"	"1606"	"0"	"1606"	"0"	"c.1606G>C"	"r.(?)"	"p.(Gly536Arg)"	"23"	""	""
"0000875416"	"00005455"	"90"	"1608"	"0"	"1608"	"0"	"c.1608del"	"r.(?)"	"p.(Ala537ProfsTer4)"	"23"	""	""
"0000875417"	"00005455"	"90"	"1611"	"0"	"1611"	"0"	"c.1611del"	"r.(?)"	"p.(Lys538ArgfsTer3)"	"23"	""	""
"0000875418"	"00005455"	"90"	"1613"	"0"	"1613"	"0"	"c.1613del"	"r.(?)"	"p.(Lys538ArgfsTer3)"	"23"	""	""
"0000875419"	"00005455"	"90"	"1614"	"1"	"1614"	"1"	"c.1614+1G>A"	"r.spl"	"p.?"	"23i"	""	""
"0000875420"	"00005455"	"90"	"1614"	"1"	"1614"	"1"	"c.1614+1G>C"	"r.spl"	"p.?"	"23i"	""	""
"0000875421"	"00005455"	"90"	"1614"	"2"	"1614"	"3"	"c.1614+2_1614+3delinsC"	"r.spl"	"p.?"	"23i"	""	""
"0000875422"	"00005455"	"90"	"1608"	"0"	"1614"	"25"	"c.1608_1614+25del"	"r.spl"	"p.?"	"23_23i"	""	""
"0000875423"	"00005455"	"10"	"1615"	"-4"	"1615"	"-4"	"c.1615-4C>A"	"r.spl?"	"p.?"	"23i"	""	""
"0000875424"	"00005455"	"90"	"1615"	"-1"	"1615"	"-1"	"c.1615-1G>C"	"r.spl"	"p.?"	"23i"	""	""
"0000875425"	"00005455"	"90"	"1615"	"-1"	"1615"	"-1"	"c.1615-1G>T"	"r.spl"	"p.?"	"23i"	""	""
"0000875426"	"00005455"	"90"	"1631"	"0"	"1631"	"0"	"c.1631del"	"r.(?)"	"p.(Pro544LeufsTer36)"	"24"	""	""
"0000875427"	"00005455"	"90"	"1626"	"0"	"1634"	"0"	"c.1626_1634del"	"r.(?)"	"p.(Ser546_Gly548del)"	"24"	""	""
"0000875428"	"00005455"	"90"	"1634"	"0"	"1634"	"0"	"c.1634G>A"	"r.(?)"	"p.(Gly545Asp)"	"24"	""	""
"0000875429"	"00005455"	"90"	"1643"	"0"	"1643"	"0"	"c.1643G>C"	"r.(?)"	"p.(Gly548Ala)"	"24"	""	""
"0000875430"	"00005455"	"90"	"1661"	"0"	"1661"	"0"	"c.1661del"	"r.(?)"	"p.(Gly554AlafsTer26)"	"24"	""	""
"0000875431"	"00005455"	"90"	"1661"	"0"	"1661"	"0"	"c.1661G>C"	"r.(?)"	"p.(Gly554Ala)"	"24"	""	""
"0000875432"	"00005455"	"90"	"1661"	"0"	"1661"	"0"	"c.1661G>T"	"r.(?)"	"p.(Gly554Val)"	"24"	""	""
"0000875433"	"00005455"	"90"	"1667"	"0"	"1667"	"0"	"c.1667dup"	"r.(?)"	"p.(Gly557TrpfsTer30)"	"24"	""	""
"0000875434"	"00005455"	"90"	"1667"	"0"	"1667"	"0"	"c.1667del"	"r.(?)"	"p.(Pro556LeufsTer24)"	"24"	""	""
"0000875435"	"00005455"	"70"	"1664"	"0"	"1664"	"0"	"c.1664C>G"	"r.(?)"	"p.(Pro555Arg)"	"24"	""	""
"0000875436"	"00005455"	"90"	"1668"	"0"	"1668"	"0"	"c.1668del"	"r.spl?"	"p.(Gly557ValfsTer23)"	"24"	""	""
"0000875437"	"00005455"	"90"	"1668"	"1"	"1668"	"1"	"c.1668+1G>A"	"r.spl"	"p.?"	"24i"	""	""
"0000875438"	"00005455"	"70"	"1668"	"4"	"1668"	"7"	"c.1668+4_1668+7del"	"r.1615_1668del"	"p.?"	"24i"	""	""
"0000875439"	"00005455"	"90"	"1669"	"-2"	"1669"	"-2"	"c.1669-2A>G"	"r.spl"	"p.?"	"24i"	""	""
"0000875440"	"00005455"	"90"	"1669"	"-1"	"1669"	"-1"	"c.1669-1G>A"	"r.spl"	"p.?"	"24i"	""	""
"0000875441"	"00005455"	"90"	"1669"	"-1"	"1669"	"-1"	"c.1669-1G>C"	"r.spl"	"p.?"	"24i"	""	""
"0000875442"	"00005455"	"90"	"1675"	"0"	"1675"	"0"	"c.1675del"	"r.(?)"	"p.(Ala559ProfsTer21)"	"25"	""	""
"0000875443"	"00005455"	"90"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	"25"	""	""
"0000875444"	"00005455"	"90"	"1678"	"0"	"1678"	"0"	"c.1678G>C"	"r.(?)"	"p.(Gly560Arg)"	"25"	""	""
"0000875445"	"00005455"	"90"	"1678"	"0"	"1678"	"0"	"c.1678G>T"	"r.(?)"	"p.(Gly560Cys)"	"25"	""	""
"0000875446"	"00005455"	"90"	"1696"	"0"	"1696"	"0"	"c.1696G>A"	"r.(?)"	"p.(Gly566Arg)"	"25"	""	""
"0000875447"	"00005455"	"90"	"1696"	"0"	"1696"	"0"	"c.1696G>C"	"r.(?)"	"p.(Gly566Arg)"	"25"	""	""
"0000875448"	"00005455"	"70"	"1699"	"0"	"1699"	"0"	"c.1699C>T"	"r.(?)"	"p.(Pro567Ser)"	"25"	""	""
"0000875449"	"00005455"	"90"	"1703"	"0"	"1703"	"0"	"c.1703del"	"r.(?)"	"p.(Pro568GlnfsTer12)"	"25"	""	""
"0000875450"	"00005455"	"90"	"1705"	"0"	"1705"	"0"	"c.1705G>C"	"r.(?)"	"p.(Gly569Arg)"	"25"	""	""
"0000875451"	"00005455"	"90"	"1706"	"0"	"1706"	"0"	"c.1706G>A"	"r.(?)"	"p.(Gly569Asp)"	"25"	""	""
"0000875452"	"00005455"	"90"	"1714"	"0"	"1714"	"0"	"c.1714G>C"	"r.(?)"	"p.(Gly572Arg)"	"25"	""	""
"0000875453"	"00005455"	"90"	"1719"	"0"	"1720"	"0"	"c.1719_1720insAC"	"r.(?)"	"p.(Arg574ThrfsTer7)"	"25"	""	""
"0000875454"	"00005455"	"90"	"1720"	"0"	"1720"	"0"	"c.1720C>T"	"r.(?)"	"p.(Arg574Cys)"	"25"	""	""
"0000875455"	"00005455"	"90"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Gly576Ter)"	"25"	""	""
"0000875456"	"00005455"	"90"	"1732"	"0"	"1732"	"0"	"c.1732G>A"	"r.(?)"	"p.(Gly578Ser)"	"25"	""	""
"0000875457"	"00005455"	"90"	"1741"	"0"	"1741"	"0"	"c.1741G>A"	"r.(?)"	"p.(Gly581Arg)"	"25"	""	""
"0000875458"	"00005455"	"90"	"1751"	"0"	"1751"	"0"	"c.1751G>A"	"r.(?)"	"p.(Gly584Glu)"	"25"	""	""
"0000875459"	"00005455"	"90"	"1759"	"0"	"1759"	"0"	"c.1759G>A"	"r.(?)"	"p.(Gly587Ser)"	"25"	""	""
"0000875460"	"00005455"	"90"	"1760"	"0"	"1760"	"0"	"c.1760G>C"	"r.(?)"	"p.(Gly587Ala)"	"25"	""	""
"0000875461"	"00005455"	"90"	"1767"	"0"	"1767"	"1"	"c.1767_1767+1insCACAGGTCAAGCT"	"r.spl"	"p.?"	"25i"	""	""
"0000875462"	"00005455"	"90"	"1767"	"2"	"1767"	"2"	"c.1767+2T>C"	"r.[1760_1767del,1767_1768insgugaguauuaa,1669_1767del]"	"p.?"	"25i"	""	""
"0000875463"	"00005455"	"90"	"1516"	"-44"	"1767"	"100"	"c.1516-44_1767+100del"	"r.?"	"p.(Gly507_Ala590del)"	"22i_25i"	""	""
"0000875464"	"00005455"	"90"	"1768"	"-1"	"1768"	"-1"	"c.1768-1G>A"	"r.spl"	"p.?"	"25i"	""	""
"0000875465"	"00005455"	"90"	"1771"	"0"	"1771"	"0"	"c.1771G>T"	"r.(?)"	"p.(Glu591Ter)"	"26"	""	""
"0000875466"	"00005455"	"90"	"1777"	"0"	"1777"	"0"	"c.1777G>A"	"r.(?)"	"p.(Gly593Ser)"	"26"	""	""
"0000875467"	"00005455"	"90"	"1777"	"0"	"1777"	"0"	"c.1777G>C"	"r.(?)"	"p.(Gly593Arg)"	"26"	""	""
"0000875468"	"00005455"	"90"	"1777"	"0"	"1777"	"0"	"c.1777G>T"	"r.(?)"	"p.(Gly593Cys)"	"26"	""	""
"0000875469"	"00005455"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>A"	"r.(?)"	"p.(Gly593Asp)"	"26"	""	""
"0000875470"	"00005455"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>T"	"r.(?)"	"p.(Gly593Val)"	"26"	""	""
"0000875471"	"00005455"	"90"	"1787"	"0"	"1787"	"0"	"c.1787del"	"r.(?)"	"p.(Gly586GlufsTer170)"	"26"	""	""
"0000875472"	"00005455"	"90"	"1787"	"0"	"1787"	"0"	"c.1787G>C"	"r.(?)"	"p.(Gly596Ala)"	"26"	""	""
"0000875473"	"00005455"	"90"	"1789"	"0"	"1789"	"0"	"c.1789G>T"	"r.(?)"	"p.(Glu597Ter)"	"26"	""	""
"0000875474"	"00005455"	"90"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598Ter)"	"26"	""	""
"0000875475"	"00005455"	"90"	"1800"	"0"	"1800"	"0"	"c.1800del"	"r.(?)"	"p.(Gly602AspfsTer164)"	"26"	""	""
"0000875476"	"00005455"	"50"	"1803"	"0"	"1803"	"0"	"c.1803C>T"	"r.(?)"	"p.(Pro601=)"	"26"	""	""
"0000875477"	"00005455"	"90"	"1804"	"0"	"1804"	"0"	"c.1804G>A"	"r.(?)"	"p.(Gly602Arg)"	"26"	""	""
"0000875478"	"00005455"	"90"	"1804"	"0"	"1804"	"0"	"c.1804G>T"	"r.(?)"	"p.(Gly602Ter)"	"26"	""	""
"0000875479"	"00005455"	"90"	"1812"	"0"	"1812"	"0"	"c.1812del"	"r.(?)"	"p.(Gly605AlafsTer161)"	"26"	""	""
"0000875480"	"00005455"	"90"	"1814"	"0"	"1814"	"0"	"c.1814del"	"r.(?)"	"p.(Gly605AlafsTer161)"	"26"	""	""
"0000875481"	"00005455"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>A"	"r.(?)"	"p.(Gly605Asp)"	"26"	""	""
"0000875482"	"00005455"	"90"	"1816"	"0"	"1816"	"0"	"c.1816del"	"r.(?)"	"p.(Ala606LeufsTer160)"	"26"	""	""
"0000875483"	"00005455"	"30"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.spl?"	"p.(Val607=)"	"26"	""	""
"0000875484"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000875485"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>C"	"r.spl"	"p.?"	"26i"	""	""
"0000875486"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>T"	"r.spl"	"p.?"	"26i"	""	""
"0000875487"	"00005455"	"70"	"1821"	"4"	"1821"	"7"	"c.1821+4_1821+7del"	"r.spl?"	"p.?"	"26i"	""	""
"0000875488"	"00005455"	"90"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>C"	"r.spl"	"p.?"	"26i"	""	""
"0000875489"	"00005455"	"90"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>G"	"r.spl"	"p.?"	"26i"	""	""
"0000875490"	"00005455"	"90"	"1822"	"-2"	"1822"	"-2"	"c.1822-2A>T"	"r.spl"	"p.?"	"26i"	""	""
"0000875491"	"00005455"	"90"	"1822"	"-2"	"1822"	"-2"	"c.1822-2del"	"r.spl"	"p.?"	"26i"	""	""
"0000875492"	"00005455"	"90"	"1822"	"-1"	"1822"	"-1"	"c.1822-1G>A"	"r.spl"	"p.?"	"26i"	""	""
"0000875493"	"00005455"	"90"	"1840"	"0"	"1840"	"0"	"c.1840G>A"	"r.(?)"	"p.(Gly614Arg)"	"27"	""	""
"0000875494"	"00005455"	"90"	"1840"	"0"	"1840"	"0"	"c.1840G>C"	"r.(?)"	"p.(Gly614Arg)"	"27"	""	""
"0000875495"	"00005455"	"90"	"1845"	"0"	"1847"	"0"	"c.1845_1847del"	"r.(?)"	"p.(Glu615_Ala616delinsAsp)"	"27"	""	""
"0000875496"	"00005455"	"90"	"1849"	"0"	"1849"	"0"	"c.1849G>A"	"r.(?)"	"p.(Gly617Arg)"	"27"	""	""
"0000875497"	"00005455"	"90"	"1865"	"0"	"1865"	"0"	"c.1865del"	"r.(?)"	"p.(Pro622LeufsTer144)"	"27"	""	""
"0000875498"	"00005455"	"90"	"1866"	"0"	"1866"	"0"	"c.1866del"	"r.(?)"	"p.(Gly623AlafsTer143)"	"27"	""	""
"0000875499"	"00005455"	"90"	"1875"	"1"	"1875"	"1"	"c.1875+1G>A"	"r.spl"	"p.?"	"27i"	""	""
"0000875500"	"00005455"	"90"	"1875"	"1"	"1875"	"1"	"c.1875+1G>C"	"r.spl"	"p.?"	"27i"	""	""
"0000875501"	"00005455"	"90"	"1876"	"-2"	"1876"	"-2"	"c.1876-2A>G"	"r.spl"	"p.?"	"27i"	""	""
"0000875502"	"00005455"	"90"	"1876"	"-2"	"1876"	"-2"	"c.1876-2del"	"r.spl"	"p.?"	"27i"	""	""
"0000875503"	"00005455"	"90"	"1876"	"-1"	"1876"	"-1"	"c.1876-1G>A"	"r.1877del"	"p.?"	"27i"	""	""
"0000875504"	"00005455"	"90"	"1876"	"-1"	"1876"	"-1"	"c.1876-1G>C"	"r.spl"	"p.?"	"27i"	""	""
"0000875505"	"00005455"	"90"	"1876"	"-2"	"1876"	"-1"	"c.1876-2_1876-1inv"	"r.spl"	"p.?"	"27i"	""	""
"0000875506"	"00005455"	"90"	"1876"	"0"	"1876"	"0"	"c.1876G>A"	"r.spl?"	"p.(Gly626Ser)"	"28"	""	""
"0000875507"	"00005455"	"90"	"1876"	"0"	"1876"	"0"	"c.1876G>T"	"r.(?)"	"p.(Gly626Cys)"	"28"	""	""
"0000875508"	"00005455"	"90"	"1877"	"0"	"1877"	"0"	"c.1877G>A"	"r.(?)"	"p.(Gly626Asp)"	"28"	""	""
"0000875509"	"00005455"	"90"	"1886"	"0"	"1886"	"0"	"c.1886del"	"r.(?)"	"p.(Gly629AlafsTer137)"	"28"	""	""
"0000875510"	"00005455"	"90"	"1885"	"0"	"1885"	"0"	"c.1885G>A"	"r.(?)"	"p.(Gly629Ser)"	"28"	""	""
"0000875511"	"00005455"	"90"	"1893"	"0"	"1894"	"0"	"c.1893_1894del"	"r.(?)"	"p.(Gly632Ter)"	"28"	""	""
"0000875512"	"00005455"	"90"	"1894"	"0"	"1894"	"0"	"c.1894G>A"	"r.(?)"	"p.(Gly632Ser)"	"28"	""	""
"0000875513"	"00005455"	"90"	"1896"	"0"	"1897"	"0"	"c.1896_1897del"	"r.(?)"	"p.(Glu633ThrfsTer21)"	"28"	""	""
"0000875514"	"00005455"	"90"	"1897"	"0"	"1897"	"0"	"c.1897G>T"	"r.(?)"	"p.(Glu633Ter)"	"28"	""	""
"0000875515"	"00005455"	"90"	"1900"	"0"	"1900"	"0"	"c.1900C>T"	"r.(?)"	"p.(Glu634Ter)"	"28"	""	""
"0000875516"	"00005455"	"90"	"1903"	"0"	"1903"	"0"	"c.1903G>A"	"r.(?)"	"p.(Gly635Ser)"	"28"	""	""
"0000875517"	"00005455"	"90"	"1913"	"0"	"1913"	"0"	"c.1913G>C"	"r.(?)"	"p.(Gly638Ala)"	"28"	""	""
"0000875518"	"00005455"	"90"	"1913"	"0"	"1913"	"0"	"c.1913G>T"	"r.(?)"	"p.(Gly638Val)"	"28"	""	""
"0000875519"	"00005455"	"90"	"1920"	"0"	"1920"	"0"	"c.1920dup"	"r.(?)"	"p.(Gly641ArgfsTer14)"	"28"	""	""
"0000875520"	"00005455"	"90"	"1921"	"0"	"1921"	"0"	"c.1921G>A"	"r.(?)"	"p.(Gly641Arg)"	"28"	""	""
"0000875521"	"00005455"	"90"	"1922"	"0"	"1922"	"0"	"c.1922G>C"	"r.(?)"	"p.(Gly641Ala)"	"28"	""	""
"0000875522"	"00005455"	"90"	"1927"	"0"	"1927"	"0"	"c.1927C>T"	"r.(?)"	"p.(Gln643Ter)"	"28"	""	""
"0000875523"	"00005455"	"90"	"1929"	"1"	"1929"	"1"	"c.1929+1G>A"	"r.1895_1929del"	"p.?"	"28i"	""	""
"0000875524"	"00005455"	"90"	"1929"	"1"	"1929"	"1"	"c.1929+1G>C"	"r.spl"	"p.?"	"28i"	""	""
"0000875525"	"00005455"	"90"	"1930"	"-2"	"1930"	"-2"	"c.1930-2A>C"	"r.spl"	"p.?"	"28i"	""	""
"0000875526"	"00005455"	"90"	"1930"	"-2"	"1930"	"-2"	"c.1930-2A>G"	"r.spl"	"p.?"	"28i"	""	""
"0000875527"	"00005455"	"90"	"1930"	"-1"	"1930"	"-1"	"c.1930-1G>A"	"r.spl"	"p.?"	"28i"	""	""
"0000875528"	"00005455"	"90"	"1930"	"-1"	"1930"	"-1"	"c.1930-1G>C"	"r.spl"	"p.?"	"28i"	""	""
"0000875529"	"00005455"	"90"	"1939"	"0"	"1939"	"0"	"c.1939G>A"	"r.(?)"	"p.(Gly647Ser)"	"29"	""	""
"0000875530"	"00005455"	"90"	"1944"	"0"	"1944"	"0"	"c.1944del"	"r.(?)"	"p.(Ala649LeufsTer117)"	"29"	""	""
"0000875531"	"00005455"	"90"	"1948"	"0"	"1948"	"0"	"c.1948G>C"	"r.(?)"	"p.(Gly650Arg)"	"29"	""	""
"0000875532"	"00005455"	"90"	"1955"	"0"	"1955"	"0"	"c.1955del"	"r.(?)"	"p.(Pro652GlnfsTer114)"	"29"	""	""
"0000875533"	"00005455"	"90"	"1966"	"0"	"1966"	"0"	"c.1966G>A"	"r.(?)"	"p.(Gly656Ser)"	"29"	""	""
"0000875534"	"00005455"	"90"	"1976"	"0"	"1976"	"0"	"c.1976G>C"	"r.(?)"	"p.(Gly659Ala)"	"29"	""	""
"0000875535"	"00005455"	"90"	"1981"	"0"	"1981"	"0"	"c.1981C>T"	"r.(?)"	"p.(Gln661Ter)"	"29"	""	""
"0000875536"	"00005455"	"70"	"1982"	"0"	"1983"	"0"	"c.1982_1983delinsTT"	"r.spl?"	"p.(Gln661Leu)"	"29"	""	""
"0000875537"	"00005455"	"90"	"1983"	"1"	"1983"	"1"	"c.1983+1G>A"	"r.spl"	"p.?"	"29i"	""	""
"0000875538"	"00005455"	"90"	"1983"	"2"	"1983"	"2"	"c.1983+2T>G"	"r.spl"	"p.?"	"29i"	""	""
"0000875539"	"00005455"	"30"	"1984"	"-5"	"1984"	"-5"	"c.1984-5del"	"r.spl?"	"p.?"	"29i"	""	""
"0000875540"	"00005455"	"90"	"1984"	"-2"	"1984"	"-2"	"c.1984-2A>C"	"r.spl"	"p.?"	"29i"	""	""
"0000875541"	"00005455"	"90"	"1984"	"-2"	"1984"	"-2"	"c.1984-2A>G"	"r.spl"	"p.?"	"29i"	""	""
"0000875542"	"00005455"	"90"	"1984"	"-1"	"1984"	"-1"	"c.1984-1G>A"	"r.spl"	"p.?"	"29i"	""	""
"0000875543"	"00005455"	"90"	"1994"	"0"	"1994"	"0"	"c.1994del"	"r.(?)"	"p.(Gly665GlufsTer101)"	"30"	""	""
"0000875544"	"00005455"	"90"	"2002"	"0"	"2002"	"0"	"c.2002G>A"	"r.(?)"	"p.(Gly668Ser)"	"30"	""	""
"0000875545"	"00005455"	"90"	"2010"	"0"	"2010"	"0"	"c.2010del"	"r.(?)"	"p.(Gly671AlafsTer95)"	"30"	""	""
"0000875546"	"00005455"	"90"	"2024"	"0"	"2028"	"1"	"c.2024_2028+1del"	"r.spl"	"p.?"	"30_30i"	""	""
"0000875547"	"00005455"	"90"	"2028"	"1"	"2028"	"1"	"c.2028+1G>A"	"r.spl"	"p.?"	"30i"	""	""
"0000875548"	"00005455"	"90"	"2028"	"2"	"2028"	"2"	"c.2028+2T>G"	"r.spl"	"p.?"	"30i"	""	""
"0000875549"	"00005455"	"90"	"2029"	"-1"	"2029"	"-1"	"c.2029-1G>A"	"r.spl"	"p.?"	"30i"	""	""
"0000875550"	"00005455"	"90"	"2037"	"0"	"2038"	"0"	"c.2037_2038del"	"r.(?)"	"p.(Gly680PhefsTer29)"	"31"	""	""
"0000875551"	"00005455"	"90"	"2039"	"0"	"2039"	"0"	"c.2039del"	"r.(?)"	"p.(Gly680ValfsTer86)"	""	""	""
"0000875552"	"00005455"	"90"	"2047"	"0"	"2047"	"0"	"c.2047G>A"	"r.(?)"	"p.(Gly683Ser)"	"31"	""	""
"0000875553"	"00005455"	"90"	"2046"	"0"	"2047"	"0"	"c.2046_2047insCTCTCTAG"	"r.(?)"	"p.(Gly683LeufsTer86)"	"31"	""	""
"0000875554"	"00005455"	"90"	"1983"	"138"	"2050"	"0"	"c.1983+138_2050del"	"r.spl"	"p.?"	"29i_31"	""	""
"0000875555"	"00005455"	"90"	"2057"	"0"	"2057"	"0"	"c.2057G>C"	"r.(?)"	"p.(Gly686Ala)"	"31"	""	""
"0000875556"	"00005455"	"90"	"2057"	"0"	"2057"	"0"	"c.2057G>T"	"r.(?)"	"p.(Gly686Val)"	"31"	""	""
"0000875557"	"00005455"	"90"	"2065"	"0"	"2065"	"0"	"c.2065G>A"	"r.(?)"	"p.(Gly689Ser)"	"31"	""	""
"0000875558"	"00005455"	"90"	"2066"	"0"	"2066"	"0"	"c.2066G>A"	"r.(?)"	"p.(Gly689Asp)"	"31"	""	""
"0000875559"	"00005455"	"90"	"2072"	"0"	"2072"	"0"	"c.2072del"	"r.(?)"	"p.(Pro691LeufsTer75)"	"31"	""	""
"0000875560"	"00005455"	"90"	"2073"	"0"	"2073"	"0"	"c.2073del"	"r.(?)"	"p.(Gly692ValfsTer74)"	"31"	""	""
"0000875561"	"00005455"	"90"	"2075"	"0"	"2075"	"0"	"c.2075G>C"	"r.(?)"	"p.(Gly692Ala)"	"31"	""	""
"0000875562"	"00005455"	"90"	"2084"	"0"	"2084"	"0"	"c.2084del"	"r.(?)"	"p.(Gly695ValfsTer71)"	"31"	""	""
"0000875563"	"00005455"	"90"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Gly695Ser)"	"31"	""	""
"0000875564"	"00005455"	"90"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697Ter)"	"31"	""	""
"0000875565"	"00005455"	"90"	"2091"	"0"	"2092"	"0"	"c.2091_2092del"	"r.(?)"	"p.(Ala699GlnfsTer10)"	"31"	""	""
"0000875566"	"00005455"	"90"	"2097"	"0"	"2097"	"0"	"c.2097del"	"r.(?)"	"p.(Asn700ThrfsTer66)"	"31"	""	""
"0000875567"	"00005455"	"90"	"2086"	"0"	"2100"	"0"	"c.2086_2100delinsGCTGCAAGGTCCCCAT"	"r.(?)"	"p.(Pro696AlafsTer14)"	"31"	""	""
"0000875568"	"00005455"	"90"	"2101"	"0"	"2101"	"0"	"c.2101G>A"	"r.(?)"	"p.(Gly701Ser)"	"31"	""	""
"0000875569"	"00005455"	"90"	"2101"	"0"	"2101"	"0"	"c.2101G>T"	"r.(?)"	"p.(Gly701Cys)"	"31"	""	""
"0000875570"	"00005455"	"90"	"2102"	"0"	"2102"	"0"	"c.2102G>T"	"r.(?)"	"p.(Gly701Val)"	"31"	""	""
"0000875571"	"00005455"	"90"	"2110"	"0"	"2110"	"0"	"c.2110G>A"	"r.(?)"	"p.(Gly704Ser)"	"31"	""	""
"0000875572"	"00005455"	"90"	"2110"	"0"	"2110"	"0"	"c.2110G>T"	"r.(?)"	"p.(Gly704Cys)"	"31"	""	""
"0000875573"	"00005455"	"10"	"2115"	"0"	"2115"	"0"	"c.2115C>T"	"r.(?)"	"p.(Asn705=)"	"31"	""	""
"0000875574"	"00005455"	"90"	"2120"	"0"	"2120"	"0"	"c.2120del"	"r.(?)"	"p.(Gly707ValfsTer59)"	"31"	""	""
"0000875575"	"00005455"	"90"	"2127"	"1"	"2127"	"1"	"c.2127+1G>A"	"r.spl"	"p.?"	"31i"	""	""
"0000875576"	"00005455"	"90"	"2127"	"1"	"2127"	"1"	"c.2127+1G>C"	"r.spl"	"p.?"	"31i"	""	""
"0000875577"	"00005455"	"90"	"2127"	"2"	"2127"	"2"	"c.2127+2T>A"	"r.spl"	"p.?"	"31i"	""	""
"0000875578"	"00005455"	"90"	"2127"	"2"	"2127"	"2"	"c.2127+2T>G"	"r.spl"	"p.?"	"31i"	""	""
"0000875579"	"00005455"	"90"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>A"	"r.spl"	"p.?"	"31i"	""	""
"0000875580"	"00005455"	"90"	"2128"	"-1"	"2128"	"-1"	"c.2128-1G>C"	"r.spl"	"p.?"	"31i"	""	""
"0000875581"	"00005455"	"90"	"2137"	"0"	"2137"	"0"	"c.2137G>A"	"r.(?)"	"p.(Gly713Ser)"	"32"	""	""
"0000875582"	"00005455"	"90"	"2144"	"0"	"2144"	"0"	"c.2144dup"	"r.(?)"	"p.(Gly716TrpfsTer5)"	"32"	""	""
"0000875583"	"00005455"	"90"	"2145"	"0"	"2145"	"0"	"c.2145del"	"r.(?)"	"p.(Gly716GlufsTer50)"	"32"	""	""
"0000875584"	"00005455"	"90"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	""	""
"0000875585"	"00005455"	"90"	"2156"	"0"	"2156"	"0"	"c.2156G>A"	"r.(?)"	"p.(Gly719Asp)"	"32"	""	""
"0000875586"	"00005455"	"90"	"2164"	"0"	"2164"	"0"	"c.2164G>A"	"r.(?)"	"p.(Gly722Ser)"	"32"	""	""
"0000875587"	"00005455"	"90"	"2165"	"0"	"2165"	"0"	"c.2165G>C"	"r.(?)"	"p.(Gly722Ala)"	"32"	""	""
"0000875588"	"00005455"	"90"	"2172"	"0"	"2172"	"0"	"c.2172del"	"r.(?)"	"p.(Gly725AlafsTer41)"	"32"	""	""
"0000875589"	"00005455"	"90"	"2173"	"0"	"2173"	"0"	"c.2173G>A"	"r.(?)"	"p.(Gly725Ser)"	"32"	""	""
"0000875590"	"00005455"	"10"	"2175"	"0"	"2175"	"0"	"c.2175C>T"	"r.(?)"	"p.(Gly725=)"	"32"	""	""
"0000875591"	"00005455"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Gln727Ter)"	"32"	""	""
"0000875592"	"00005455"	"90"	"2182"	"0"	"2182"	"0"	"c.2182G>A"	"r.(?)"	"p.(Gly728Arg)"	"32"	""	""
"0000875593"	"00005455"	"90"	"2183"	"0"	"2183"	"0"	"c.2183G>A"	"r.(?)"	"p.(Gly728Glu)"	"32"	""	""
"0000875594"	"00005455"	"90"	"2192"	"0"	"2192"	"0"	"c.2192G>C"	"r.(?)"	"p.(Gly731Ala)"	"32"	""	""
"0000875595"	"00005455"	"90"	"2192"	"0"	"2192"	"0"	"c.2192G>T"	"r.(?)"	"p.(Gly731Val)"	"32"	""	""
"0000875596"	"00005455"	"90"	"2196"	"0"	"2196"	"0"	"c.2196del"	"r.(?)"	"p.(Glu732AspfsTer34)"	"32"	""	""
"0000875597"	"00005455"	"90"	"2201"	"0"	"2201"	"0"	"c.2201G>C"	"r.(?)"	"p.(Gly734Ala)"	"32"	""	""
"0000875598"	"00005455"	"90"	"2201"	"0"	"2201"	"0"	"c.2201G>T"	"r.(?)"	"p.(Gly734Val)"	"32"	""	""
"0000875599"	"00005455"	"90"	"2209"	"0"	"2209"	"0"	"c.2209G>T"	"r.(?)"	"p.(Gly737Cys)"	"32"	""	""
"0000875600"	"00005455"	"90"	"2210"	"0"	"2210"	"0"	"c.2210G>A"	"r.(?)"	"p.(Gly737Asp)"	"32"	""	""
"0000875601"	"00005455"	"90"	"2216"	"0"	"2216"	"0"	"c.2216del"	"r.(?)"	"p.(Pro739GlnfsTer27)"	"32"	""	""
"0000875602"	"00005455"	"90"	"2218"	"0"	"2218"	"0"	"c.2218G>C"	"r.(?)"	"p.(Gly740Arg)"	"32"	""	""
"0000875603"	"00005455"	"90"	"2227"	"0"	"2227"	"0"	"c.2227G>A"	"r.(?)"	"p.(Gly743Ser)"	"32"	""	""
"0000875604"	"00005455"	"90"	"2228"	"0"	"2228"	"0"	"c.2228G>A"	"r.(?)"	"p.(Gly743Asp)"	"32"	""	""
"0000875605"	"00005455"	"90"	"2228"	"0"	"2228"	"0"	"c.2228G>T"	"r.2228g>t"	"p.(Gly743Val)"	"32"	""	""
"0000875606"	"00005455"	"90"	"2235"	"0"	"2235"	"1"	"c.2235_2235+1del"	"r.spl"	"p.?"	"32_32i"	""	""
"0000875607"	"00005455"	"90"	"2235"	"1"	"2235"	"1"	"c.2235+1G>A"	"r.spl"	"p.?"	"32i"	""	""
"0000875608"	"00005455"	"90"	"2236"	"-2"	"2236"	"-2"	"c.2236-2A>G"	"r.spl"	"p.?"	"32i"	""	""
"0000875609"	"00005455"	"90"	"2236"	"-1"	"2236"	"-1"	"c.2236-1G>A"	"r.spl"	"p.?"	"32i"	""	""
"0000875610"	"00005455"	"90"	"2245"	"0"	"2245"	"0"	"c.2245G>A"	"r.(?)"	"p.(Gly749Ser)"	"33"	""	""
"0000875611"	"00005455"	"90"	"2250"	"0"	"2250"	"0"	"c.2250del"	"r.(?)"	"p.(Gly752ValfsTer14)"	"33"	""	""
"0000875612"	"00005455"	"90"	"2263"	"0"	"2263"	"0"	"c.2263G>A"	"r.(?)"	"p.(Gly755Ser)"	"33"	""	""
"0000875613"	"00005455"	"90"	"2268"	"0"	"2269"	"0"	"c.2268_2269dup"	"r.(?)"	"p.(Pro757LeufsTer10)"	"33"	""	""
"0000875614"	"00005455"	"90"	"2268"	"0"	"2269"	"0"	"c.2268_2269del"	"r.(?)"	"p.(Pro757TrpfsTer23)"	"33"	""	""
"0000875615"	"00005455"	"90"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.(Pro757LeufsTer9)"	"33"	""	""
"0000875616"	"00005455"	"90"	"2272"	"0"	"2272"	"0"	"c.2272G>A"	"r.(?)"	"p.(Gly758Ser)"	"33"	""	""
"0000875617"	"00005455"	"90"	"2272"	"0"	"2272"	"0"	"c.2272G>T"	"r.(?)"	"p.(Gly758Cys)"	"33"	""	""
"0000875618"	"00005455"	"90"	"2236"	"-47"	"2273"	"0"	"c.2236-47_2273del"	"r.spl"	"p.?"	"32i_33"	""	""
"0000875619"	"00005455"	"90"	"2281"	"0"	"2281"	"0"	"c.2281G>A"	"r.(?)"	"p.(Gly761Ser)"	"33"	""	""
"0000875620"	"00005455"	"90"	"2282"	"0"	"2282"	"0"	"c.2282G>A"	"r.(?)"	"p.(Gly761Asp)"	"33"	""	""
"0000875621"	"00005455"	"90"	"2290"	"0"	"2290"	"0"	"c.2290G>A"	"r.(?)"	"p.(Gly764Ser)"	"33"	""	""
"0000875622"	"00005455"	"90"	"2291"	"0"	"2291"	"0"	"c.2291G>T"	"r.(?)"	"p.(Gly764Val)"	"33"	""	""
"0000875623"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33"	""	""
"0000875624"	"00005455"	"90"	"2300"	"0"	"2300"	"0"	"c.2300G>A"	"r.(?)"	"p.(Gly767Asp)"	"33"	""	""
"0000875625"	"00005455"	"90"	"2308"	"0"	"2308"	"0"	"c.2308G>A"	"r.(?)"	"p.(Gly770Ser)"	"33"	""	""
"0000875626"	"00005455"	"90"	"2308"	"0"	"2308"	"0"	"c.2308G>T"	"r.(?)"	"p.(Gly770Cys)"	"33"	""	""
"0000875627"	"00005455"	"90"	"2309"	"0"	"2309"	"0"	"c.2309G>A"	"r.(?)"	"p.(Gly770Asp)"	"33"	""	""
"0000875628"	"00005455"	"90"	"2317"	"0"	"2317"	"0"	"c.2317G>A"	"r.(?)"	"p.(Gly773Ser)"	"33"	""	""
"0000875629"	"00005455"	"90"	"2317"	"0"	"2317"	"0"	"c.2317G>T"	"r.(?)"	"p.(Gly773Cys)"	"33"	""	""
"0000875630"	"00005455"	"90"	"2321"	"0"	"2321"	"0"	"c.2321del"	"r.(?)"	"p.(Pro774LeufsTer334)"	"33"	""	""
"0000875631"	"00005455"	"90"	"2320"	"0"	"2324"	"0"	"c.2320_2324del"	"r.(?)"	"p.(Pro774TrpfsTer5)"	"33"	""	""
"0000875632"	"00005455"	"90"	"2326"	"0"	"2326"	"0"	"c.2326G>A"	"r.(?)"	"p.(Gly776Ser)"	"33"	""	""
"0000875633"	"00005455"	"90"	"2329"	"0"	"2329"	"0"	"c.2329del"	"r.(?)"	"p.(Ala777ProfsTer331)"	"33"	""	""
"0000875634"	"00005455"	"90"	"2335"	"0"	"2335"	"0"	"c.2335G>A"	"r.(?)"	"p.(Gly779Ser)"	"33"	""	""
"0000875635"	"00005455"	"90"	"2343"	"1"	"2343"	"1"	"c.2343+1G>A"	"r.spl"	"p.?"	"33i"	""	""
"0000875636"	"00005455"	"90"	"2344"	"-1"	"2344"	"-1"	"c.2344-1G>A"	"r.spl"	"p.?"	"33i"	""	""
"0000875637"	"00005455"	"90"	"2362"	"0"	"2362"	"0"	"c.2362G>A"	"r.(?)"	"p.(Gly788Ser)"	"34"	""	""
"0000875638"	"00005455"	"90"	"2362"	"0"	"2362"	"0"	"c.2362G>T"	"r.(?)"	"p.(Gly788Cys)"	"34"	""	""
"0000875639"	"00005455"	"90"	"2381"	"0"	"2381"	"0"	"c.2381G>C"	"r.(?)"	"p.(Gly794Ala)"	"34"	""	""
"0000875640"	"00005455"	"90"	"2362"	"0"	"2384"	"0"	"c.2362_2384del"	"r.(?)"	"p.(Gly788SerfsTer9)"	"34"	""	""
"0000875641"	"00005455"	"90"	"2390"	"0"	"2390"	"0"	"c.2390del"	"r.(?)"	"p.(Gly797ValfsTer311)"	"34"	""	""
"0000875642"	"00005455"	"90"	"2397"	"0"	"2397"	"0"	"c.2397dup"	"r.(?)"	"p.(Gly800ArgfsTer5)"	"34"	""	""
"0000875643"	"00005455"	"90"	"2397"	"0"	"2397"	"0"	"c.2397del"	"r.(?)"	"p.(Gly800GlufsTer308)"	"34"	""	""
"0000875644"	"00005455"	"90"	"2385"	"0"	"2395"	"0"	"c.2385_2395del"	"r.(?)"	"p.(Gly797ArgfsTer4)"	"34"	""	""
"0000875645"	"00005455"	"90"	"2398"	"-1"	"2398"	"-1"	"c.2398-1G>A"	"r.spl"	"p.?"	"34i"	""	""
"0000875646"	"00005455"	"90"	"2398"	"0"	"2398"	"0"	"c.2398G>T"	"r.spl?"	"p.(Gly800Ter)"	"35"	""	""
"0000875647"	"00005455"	"90"	"2398"	"0"	"2406"	"0"	"c.2398_2406del"	"r.(?)"	"p.(Gly800_Arg802del)"	"35"	""	""
"0000875648"	"00005455"	"90"	"2410"	"0"	"2410"	"0"	"c.2410G>T"	"r.(?)"	"p.(Glu804Ter)"	"35"	""	""
"0000875649"	"00005455"	"90"	"2416"	"0"	"2416"	"0"	"c.2416G>A"	"r.(?)"	"p.(Gly806Ser)"	"35"	""	""
"0000875650"	"00005455"	"90"	"2418"	"0"	"2418"	"0"	"c.2418del"	"r.(?)"	"p.(Gly809AlafsTer299)"	"35"	""	""
"0000875651"	"00005455"	"90"	"2424"	"0"	"2424"	"0"	"c.2424dup"	"r.(?)"	"p.(Gly809ArgfsTer12)"	"35"	""	""
"0000875652"	"00005455"	"90"	"2424"	"0"	"2424"	"0"	"c.2424del"	"r.(?)"	"p.(Gly809AlafsTer299)"	"35"	""	""
"0000875653"	"00005455"	"90"	"2426"	"0"	"2426"	"0"	"c.2426dup"	"r.(?)"	"p.(Ala811CysfsTer10)"	"35"	""	""
"0000875654"	"00005455"	"90"	"2425"	"0"	"2425"	"0"	"c.2425G>A"	"r.(?)"	"p.(Gly809Ser)"	"35"	""	""
"0000875655"	"00005455"	"90"	"2434"	"0"	"2434"	"0"	"c.2434G>A"	"r.(?)"	"p.(Gly812Ser)"	"35"	""	""
"0000875656"	"00005455"	"90"	"2444"	"0"	"2444"	"0"	"c.2444del"	"r.(?)"	"p.(Gly815AlafsTer293)"	"35"	""	""
"0000875657"	"00005455"	"90"	"2443"	"0"	"2443"	"0"	"c.2443G>A"	"r.(?)"	"p.(Gly815Ser)"	"35"	""	""
"0000875658"	"00005455"	"90"	"2444"	"0"	"2444"	"0"	"c.2444G>C"	"r.(?)"	"p.(Gly815Ala)"	"35"	""	""
"0000875659"	"00005455"	"90"	"2444"	"0"	"2444"	"0"	"c.2444G>T"	"r.(?)"	"p.(Gly815Val)"	"35"	""	""
"0000875660"	"00005455"	"90"	"2450"	"0"	"2450"	"0"	"c.2450dup"	"r.(?)"	"p.(Gly818TrpfsTer3)"	"35"	""	""
"0000875661"	"00005455"	"90"	"2450"	"0"	"2450"	"0"	"c.2450del"	"r.(?)"	"p.(Pro817LeufsTer291)"	"35"	""	""
"0000875662"	"00005455"	"90"	"2451"	"0"	"2451"	"0"	"c.2451dup"	"r.spl?"	"p.(Gly818TrpfsTer3)"	"35"	""	""
"0000875663"	"00005455"	"90"	"2451"	"0"	"2451"	"0"	"c.2451del"	"r.spl?"	"p.(Gly818ValfsTer290)"	"35"	""	""
"0000875664"	"00005455"	"90"	"2451"	"1"	"2451"	"1"	"c.2451+1G>A"	"r.spl"	"p.?"	"35i"	""	""
"0000875665"	"00005455"	"90"	"2451"	"1"	"2451"	"1"	"c.2451+1G>T"	"r.spl"	"p.?"	"35i"	""	""
"0000875666"	"00005455"	"90"	"2451"	"0"	"2451"	"18"	"c.2451_2451+18del"	"r.spl"	"p.?"	"35_35i"	""	""
"0000875667"	"00005455"	"90"	"2337"	"0"	"2451"	"62"	"c.2337_2451+62del"	"r.spl"	"p.(Gly746_Pro817del)"	"33_35i"	""	""
"0000875668"	"00005455"	"90"	"2452"	"-2"	"2452"	"-2"	"c.2452-2A>G"	"r.spl"	"p.?"	"35i"	""	""
"0000875669"	"00005455"	"90"	"2452"	"-2"	"2452"	"-2"	"c.2452-2A>T"	"r.spl"	"p.?"	"35i"	""	""
"0000875670"	"00005455"	"90"	"2452"	"-1"	"2452"	"-1"	"c.2452-1G>A"	"r.spl"	"p.?"	"35i"	""	""
"0000875671"	"00005455"	"90"	"2452"	"0"	"2452"	"0"	"c.2452G>A"	"r.spl?"	"p.(Gly818Ser)"	"36"	""	""
"0000875672"	"00005455"	"90"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"36"	""	""
"0000875673"	"00005455"	"90"	"2461"	"0"	"2461"	"0"	"c.2461G>C"	"r.(?)"	"p.(Gly821Arg)"	"36"	""	""
"0000875674"	"00005455"	"90"	"2464"	"0"	"2464"	"0"	"c.2464C>T"	"r.(?)"	"p.(Gln822Ter)"	"36"	""	""
"0000875675"	"00005455"	"90"	"2470"	"0"	"2470"	"0"	"c.2470G>C"	"r.(?)"	"p.(Gly824Arg)"	"36"	""	""
"0000875676"	"00005455"	"90"	"2470"	"0"	"2470"	"0"	"c.2470G>T"	"r.(?)"	"p.(Gly824Cys)"	"36"	""	""
"0000875677"	"00005455"	"90"	"2471"	"0"	"2471"	"0"	"c.2471G>C"	"r.(?)"	"p.(Gly824Ala)"	"36"	""	""
"0000875678"	"00005455"	"90"	"2477"	"0"	"2478"	"0"	"c.2477_2478del"	"r.(?)"	"p.(Lys826ArgfsTer5)"	"36"	""	""
"0000875679"	"00005455"	"90"	"2479"	"0"	"2479"	"0"	"c.2479G>A"	"r.(?)"	"p.(Gly827Ser)"	"36"	""	""
"0000875680"	"00005455"	"90"	"2480"	"0"	"2480"	"0"	"c.2480G>A"	"r.(?)"	"p.(Gly827Asp)"	"36"	""	""
"0000875681"	"00005455"	"90"	"2497"	"0"	"2497"	"0"	"c.2497G>A"	"r.(?)"	"p.(Gly833Ser)"	"36"	""	""
"0000875682"	"00005455"	"90"	"2498"	"0"	"2498"	"0"	"c.2498G>A"	"r.(?)"	"p.(Gly833Asp)"	"36"	""	""
"0000875683"	"00005455"	"90"	"2498"	"0"	"2498"	"0"	"c.2498G>T"	"r.(?)"	"p.(Gly833Val)"	"36"	""	""
"0000875684"	"00005455"	"90"	"2507"	"0"	"2507"	"0"	"c.2507G>C"	"r.(?)"	"p.(Gly836Ala)"	"36"	""	""
"0000875685"	"00005455"	"90"	"2515"	"0"	"2515"	"0"	"c.2515G>A"	"r.(?)"	"p.(Gly839Ser)"	"36"	""	""
"0000875686"	"00005455"	"90"	"2515"	"0"	"2515"	"0"	"c.2515G>C"	"r.(?)"	"p.(Gly839Arg)"	"36"	""	""
"0000875687"	"00005455"	"90"	"2516"	"0"	"2516"	"0"	"c.2516G>A"	"r.(?)"	"p.(Gly839Asp)"	"36"	""	""
"0000875688"	"00005455"	"90"	"2522"	"0"	"2522"	"0"	"c.2522dup"	"r.(?)"	"p.(Gly842TrpfsTer14)"	"36"	""	""
"0000875689"	"00005455"	"90"	"2522"	"0"	"2522"	"0"	"c.2522del"	"r.(?)"	"p.(Pro841LeufsTer267)"	"36"	""	""
"0000875690"	"00005455"	"90"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842AlafsTer266)"	"36"	""	""
"0000875691"	"00005455"	"90"	"2525"	"0"	"2525"	"0"	"c.2525del"	"r.(?)"	"p.(Gly842AlafsTer266)"	"36"	""	""
"0000875692"	"00005455"	"90"	"2524"	"0"	"2524"	"0"	"c.2524G>C"	"r.(?)"	"p.(Gly842Arg)"	"36"	""	""
"0000875693"	"00005455"	"90"	"2510"	"0"	"2525"	"0"	"c.2510_2525del"	"r.(?)"	"p.(Asp837AlafsTer266)"	"36"	""	""
"0000875694"	"00005455"	"90"	"2525"	"0"	"2525"	"0"	"c.2525G>A"	"r.(?)"	"p.(Gly842Asp)"	"36"	""	""
"0000875695"	"00005455"	"90"	"2533"	"0"	"2533"	"0"	"c.2533G>A"	"r.(?)"	"p.(Gly845Arg)"	"36"	""	""
"0000875696"	"00005455"	"90"	"2533"	"0"	"2533"	"0"	"c.2533G>C"	"r.(?)"	"p.(Gly845Arg)"	"36"	""	""
"0000875697"	"00005455"	"90"	"2533"	"0"	"2533"	"0"	"c.2533G>T"	"r.(?)"	"p.(Gly845Ter)"	"36"	""	""
"0000875698"	"00005455"	"90"	"2542"	"0"	"2542"	"0"	"c.2542G>C"	"r.(?)"	"p.(Gly848Arg)"	"36"	""	""
"0000875699"	"00005455"	"90"	"2543"	"0"	"2543"	"0"	"c.2543G>C"	"r.(?)"	"p.(Gly848Ala)"	"36"	""	""
"0000875700"	"00005455"	"90"	"2549"	"0"	"2549"	"0"	"c.2549del"	"r.(?)"	"p.(Pro850LeufsTer258)"	"36"	""	""
"0000875701"	"00005455"	"90"	"2548"	"0"	"2549"	"0"	"c.2548_2549dup"	"r.(?)"	"p.(Gly851LeufsTer258)"	"36"	""	""
"0000875702"	"00005455"	"90"	"2550"	"0"	"2550"	"0"	"c.2550dup"	"r.(?)"	"p.(Gly851TrpfsTer5)"	"36"	""	""
"0000875703"	"00005455"	"90"	"2550"	"0"	"2550"	"0"	"c.2550del"	"r.(?)"	"p.(Gly851AlafsTer257)"	"36"	""	""
"0000875704"	"00005455"	"90"	"2552"	"0"	"2552"	"0"	"c.2552G>A"	"r.(?)"	"p.(Gly851Asp)"	"36"	""	""
"0000875705"	"00005455"	"90"	"2552"	"0"	"2553"	"0"	"c.2552_2553delinsTT"	"r.(?)"	"p.(Gly851Val)"	"36"	""	""
"0000875706"	"00005455"	"90"	"2548"	"0"	"2556"	"0"	"c.2548_2556del"	"r.(?)"	"p.(Pro850_Pro852del)"	"36"	""	""
"0000875707"	"00005455"	"90"	"2559"	"1"	"2559"	"1"	"c.2559+1G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000875708"	"00005455"	"90"	"2559"	"2"	"2559"	"2"	"c.2559+2T>A"	"r.spl"	"p.?"	"36i"	""	""
"0000875709"	"00005455"	"90"	"2559"	"2"	"2559"	"2"	"c.2559+2T>C"	"r.spl"	"p.?"	"36i"	""	""
"0000875710"	"00005455"	"90"	"2509"	"0"	"2559"	"9"	"c.2509_2559+9del"	"r.spl"	"p.?"	"36_36i"	""	""
"0000875711"	"00005455"	"90"	"2560"	"-1"	"2560"	"-1"	"c.2560-1G>A"	"r.spl"	"p.?"	"36i"	""	""
"0000875712"	"00005455"	"90"	"2560"	"0"	"2560"	"0"	"c.2560G>A"	"r.spl?"	"p.(Gly854Ser)"	"37"	""	""
"0000875713"	"00005455"	"90"	"2560"	"0"	"2560"	"0"	"c.2560G>C"	"r.(?)"	"p.(Gly854Arg)"	"37"	""	""
"0000875714"	"00005455"	"90"	"2560"	"0"	"2560"	"0"	"c.2560G>T"	"r.(?)"	"p.(Gly854Cys)"	"37"	""	""
"0000875715"	"00005455"	"90"	"2561"	"0"	"2561"	"0"	"c.2561G>T"	"r.(?)"	"p.(Gly854Val)"	"37"	""	""
"0000875716"	"00005455"	"90"	"2562"	"0"	"2565"	"0"	"c.2562_2565dup"	"r.(?)"	"p.(Val856Ter)"	"37"	""	""
"0000875717"	"00005455"	"90"	"2567"	"0"	"2569"	"0"	"c.2567_2569del"	"r.(?)"	"p.(Val856del)"	"37"	""	""
"0000875718"	"00005455"	"90"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	"37"	""	""
"0000875719"	"00005455"	"90"	"2579"	"0"	"2579"	"0"	"c.2579G>C"	"r.(?)"	"p.(Gly860Ala)"	"37"	""	""
"0000875720"	"00005455"	"90"	"2587"	"0"	"2587"	"0"	"c.2587G>T"	"r.(?)"	"p.(Gly863Cys)"	"37"	""	""
"0000875721"	"00005455"	"90"	"2588"	"0"	"2588"	"0"	"c.2588G>T"	"r.(?)"	"p.(Gly863Val)"	"37"	""	""
"0000875722"	"00005455"	"90"	"2594"	"0"	"2594"	"0"	"c.2594dup"	"r.(?)"	"p.(Gly866ArgfsTer47)"	"37"	""	""
"0000875723"	"00005455"	"90"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"37"	""	""
"0000875724"	"00005455"	"90"	"2596"	"0"	"2596"	"0"	"c.2596G>T"	"r.(?)"	"p.(Gly866Cys)"	"37"	""	""
"0000875725"	"00005455"	"90"	"2597"	"0"	"2597"	"0"	"c.2597G>C"	"r.(?)"	"p.(Gly866Ala)"	"37"	""	""
"0000875726"	"00005455"	"90"	"2605"	"0"	"2605"	"0"	"c.2605G>T"	"r.(?)"	"p.(Gly869Cys)"	"37"	""	""
"0000875727"	"00005455"	"90"	"2612"	"0"	"2612"	"0"	"c.2612dup"	"r.(?)"	"p.(Gly872TrpfsTer41)"	"37"	""	""
"0000875728"	"00005455"	"90"	"2612"	"0"	"2612"	"0"	"c.2612del"	"r.(?)"	"p.(Pro871LeufsTer237)"	"37"	""	""
"0000875729"	"00005455"	"90"	"2613"	"0"	"2613"	"0"	"c.2613del"	"r.(?)"	"p.(Gly872ValfsTer236)"	"37"	""	""
"0000875730"	"00005455"	"90"	"2612"	"0"	"2613"	"0"	"c.2612_2613del"	"r.spl?"	"p.(Pro871ArgfsTer41)"	"37"	""	""
"0000875731"	"00005455"	"90"	"2614"	"-1"	"2614"	"-1"	"c.2614-1G>A"	"r.spl"	"p.?"	"37i"	""	""
"0000875732"	"00005455"	"90"	"2614"	"-1"	"2614"	"-1"	"c.2614-1G>T"	"r.spl"	"p.?"	"37i"	""	""
"0000875733"	"00005455"	"90"	"2615"	"0"	"2615"	"0"	"c.2615G>C"	"r.(?)"	"p.(Gly872Ala)"	"38"	""	""
"0000875734"	"00005455"	"90"	"2623"	"0"	"2623"	"0"	"c.2623G>A"	"r.(?)"	"p.(Gly875Ser)"	"38"	""	""
"0000875735"	"00005455"	"90"	"2632"	"0"	"2632"	"0"	"c.2632G>A"	"r.(?)"	"p.(Gly878Ser)"	"38"	""	""
"0000875736"	"00005455"	"90"	"2633"	"0"	"2633"	"0"	"c.2633G>A"	"r.(?)"	"p.(Gly878Asp)"	"38"	""	""
"0000875737"	"00005455"	"90"	"2642"	"0"	"2642"	"0"	"c.2642G>T"	"r.(?)"	"p.(Gly881Val)"	"38"	""	""
"0000875738"	"00005455"	"90"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Arg882Ter)"	"38"	""	""
"0000875739"	"00005455"	"90"	"2646"	"0"	"2647"	"0"	"c.2646_2647del"	"r.(?)"	"p.(Val883ArgfsTer29)"	"38"	""	""
"0000875740"	"00005455"	"90"	"2650"	"0"	"2650"	"0"	"c.2650G>A"	"r.(?)"	"p.(Gly884Ser)"	"38"	""	""
"0000875741"	"00005455"	"90"	"2659"	"0"	"2659"	"0"	"c.2659G>A"	"r.(?)"	"p.(Gly887Ser)"	"38"	""	""
"0000875742"	"00005455"	"90"	"2645"	"0"	"2663"	"0"	"c.2645_2663dup"	"r.(?)"	"p.(Gly890ArgfsTer29)"	"38"	""	""
"0000875743"	"00005455"	"90"	"2667"	"1"	"2667"	"1"	"c.2667+1G>A"	"r.spl"	"p.?"	"38i"	""	""
"0000875744"	"00005455"	"90"	"2667"	"2"	"2667"	"2"	"c.2667+2T>G"	"r.spl"	"p.?"	"38i"	""	""
"0000875745"	"00005455"	"70"	"2667"	"3"	"2667"	"6"	"c.2667+3_2667+6del"	"r.spl?"	"p.?"	"38i"	""	""
"0000875746"	"00005455"	"90"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>A"	"r.spl"	"p.?"	"38i"	""	""
"0000875747"	"00005455"	"90"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>C"	"r.spl"	"p.?"	"38i"	""	""
"0000875748"	"00005455"	"90"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>T"	"r.spl"	"p.?"	"38i"	""	""
"0000875749"	"00005455"	"90"	"2684"	"0"	"2684"	"0"	"c.2684dup"	"r.(?)"	"p.(Gly896TrpfsTer17)"	"39"	""	""
"0000875750"	"00005455"	"90"	"2684"	"0"	"2684"	"0"	"c.2684del"	"r.(?)"	"p.(Pro895LeufsTer213)"	"39"	""	""
"0000875751"	"00005455"	"90"	"2685"	"0"	"2685"	"0"	"c.2685del"	"r.(?)"	"p.(Gly896AlafsTer212)"	"39"	""	""
"0000875752"	"00005455"	"90"	"2686"	"0"	"2686"	"0"	"c.2686G>T"	"r.(?)"	"p.(Gly896Cys)"	"39"	""	""
"0000875753"	"00005455"	"90"	"2687"	"0"	"2687"	"0"	"c.2687G>A"	"r.(?)"	"p.(Gly896Asp)"	"39"	""	""
"0000875754"	"00005455"	"90"	"2696"	"0"	"2696"	"0"	"c.2696G>A"	"r.(?)"	"p.(Gly899Asp)"	"39"	""	""
"0000875755"	"00005455"	"90"	"2704"	"0"	"2704"	"0"	"c.2704G>A"	"r.(?)"	"p.(Gly902Ser)"	"39"	""	""
"0000875756"	"00005455"	"30"	"2716"	"0"	"2716"	"0"	"c.2716G>A"	"r.(?)"	"p.(Gly906Ser)"	"39"	""	""
"0000875757"	"00005455"	"90"	"2725"	"0"	"2733"	"0"	"c.2725_2733del"	"r.(?)"	"p.(Pro909_Gly911del)"	"39"	""	""
"0000875758"	"00005455"	"90"	"2732"	"0"	"2732"	"0"	"c.2732del"	"r.(?)"	"p.(Gly911ValfsTer197)"	"39"	""	""
"0000875759"	"00005455"	"90"	"2731"	"0"	"2731"	"0"	"c.2731G>A"	"r.(?)"	"p.(Gly911Ser)"	"39"	""	""
"0000875760"	"00005455"	"90"	"2750"	"0"	"2750"	"0"	"c.2750del"	"r.(?)"	"p.(Gly917AspfsTer191)"	"39"	""	""
"0000875761"	"00005455"	"90"	"2750"	"0"	"2750"	"0"	"c.2750G>A"	"r.(?)"	"p.(Gly917Glu)"	"39"	""	""
"0000875762"	"00005455"	"90"	"2758"	"0"	"2758"	"0"	"c.2758G>A"	"r.(?)"	"p.(Gly920Ser)"	"39"	""	""
"0000875763"	"00005455"	"90"	"2774"	"0"	"2774"	"0"	"c.2774del"	"r.(?)"	"p.(Pro925LeufsTer183)"	"39"	""	""
"0000875764"	"00005455"	"90"	"2775"	"0"	"2775"	"0"	"c.2775del"	"r.(?)"	"p.(Gly926ValfsTer182)"	"39"	""	""
"0000875765"	"00005455"	"90"	"2776"	"0"	"2776"	"0"	"c.2776G>T"	"r.(?)"	"p.(Gly926Cys)"	"39"	""	""
"0000875766"	"00005455"	"90"	"2784"	"0"	"2784"	"0"	"c.2784del"	"r.(?)"	"p.(Gly929AlafsTer179)"	"39"	""	""
"0000875767"	"00005455"	"90"	"2795"	"0"	"2795"	"0"	"c.2795G>A"	"r.(?)"	"p.(Gly932Asp)"	"39"	""	""
"0000875768"	"00005455"	"90"	"2810"	"0"	"2810"	"0"	"c.2810dup"	"r.(?)"	"p.(Gly938TrpfsTer3)"	"39"	""	""
"0000875769"	"00005455"	"90"	"2822"	"0"	"2822"	"0"	"c.2822del"	"r.(?)"	"p.(Gly941ValfsTer167)"	"39"	""	""
"0000875770"	"00005455"	"90"	"2829"	"1"	"2829"	"1"	"c.2829+1G>A"	"r.spl"	"p.?"	"39i"	""	""
"0000875771"	"00005455"	"90"	"2829"	"1"	"2829"	"1"	"c.2829+1G>T"	"r.spl"	"p.?"	"39i"	""	""
"0000875772"	"00005455"	"90"	"2830"	"-1"	"2830"	"-1"	"c.2830-1G>A"	"r.spl"	"p.?"	"39i"	""	""
"0000875773"	"00005455"	"90"	"2830"	"0"	"2830"	"0"	"c.2830G>T"	"r.spl?"	"p.(Gly944Cys)"	"40"	""	""
"0000875774"	"00005455"	"90"	"2831"	"0"	"2831"	"0"	"c.2831G>T"	"r.(?)"	"p.(Gly944Val)"	"40"	""	""
"0000875775"	"00005455"	"90"	"2839"	"0"	"2839"	"0"	"c.2839G>T"	"r.(?)"	"p.(Gly947Cys)"	"40"	""	""
"0000875776"	"00005455"	"90"	"2850"	"0"	"2850"	"0"	"c.2850dup"	"r.(?)"	"p.(Pro951AlafsTer31)"	"40"	""	""
"0000875777"	"00005455"	"90"	"2848"	"0"	"2848"	"0"	"c.2848G>A"	"r.(?)"	"p.(Gly950Arg)"	"40"	""	""
"0000875778"	"00005455"	"90"	"2867"	"0"	"2867"	"0"	"c.2867G>C"	"r.(?)"	"p.(Gly956Ala)"	"40"	""	""
"0000875779"	"00005455"	"90"	"2869"	"0"	"2869"	"0"	"c.2869C>T"	"r.(?)"	"p.(Gln957Ter)"	"40"	""	""
"0000875780"	"00005455"	"90"	"2870"	"0"	"2873"	"0"	"c.2870_2873del"	"r.(?)"	"p.(Gln957LeufsTer150)"	"40"	""	""
"0000875781"	"00005455"	"90"	"2877"	"0"	"2877"	"0"	"c.2877del"	"r.(?)"	"p.(Val960TrpfsTer148)"	"40"	""	""
"0000875782"	"00005455"	"90"	"2881"	"0"	"2881"	"0"	"c.2881del"	"r.(?)"	"p.(Val961SerfsTer147)"	"40"	""	""
"0000875783"	"00005455"	"90"	"2885"	"0"	"2885"	"0"	"c.2885G>A"	"r.(?)"	"p.(Gly962Asp)"	"40"	""	""
"0000875784"	"00005455"	"90"	"2908"	"0"	"2911"	"0"	"c.2908_2911del"	"r.(?)"	"p.(Arg970AlafsTer137)"	"40"	""	""
"0000875785"	"00005455"	"90"	"2910"	"0"	"2911"	"0"	"c.2910_2911insAG"	"r.(?)"	"p.(Gly971ArgfsTer138)"	"40"	""	""
"0000875786"	"00005455"	"90"	"2921"	"0"	"2921"	"0"	"c.2921G>A"	"r.(?)"	"p.(Gly974Asp)"	"40"	""	""
"0000875787"	"00005455"	"90"	"2921"	"0"	"2921"	"0"	"c.2921G>C"	"r.(?)"	"p.(Gly974Ala)"	"40"	""	""
"0000875788"	"00005455"	"90"	"2918"	"0"	"2927"	"0"	"c.2918_2927del"	"r.(?)"	"p.(Pro973LeufsTer132)"	"40"	""	""
"0000875789"	"00005455"	"90"	"2930"	"0"	"2930"	"0"	"c.2930G>A"	"r.(?)"	"p.(Gly977Asp)"	"40"	""	""
"0000875790"	"00005455"	"90"	"2934"	"0"	"2934"	"0"	"c.2934del"	"r.(?)"	"p.(Ser979LeufsTer129)"	"40"	""	""
"0000875791"	"00005455"	"90"	"2935"	"0"	"2935"	"0"	"c.2935del"	"r.(?)"	"p.(Ser979LeufsTer129)"	"40"	""	""
"0000875792"	"00005455"	"90"	"2937"	"2"	"2937"	"2"	"c.2937+2T>A"	"r.spl"	"p.?"	"40i"	""	""
"0000875793"	"00005455"	"90"	"2938"	"-2"	"2938"	"-2"	"c.2938-2A>G"	"r.spl"	"p.?"	"40i"	""	""
"0000875794"	"00005455"	"90"	"2938"	"-1"	"2938"	"-1"	"c.2938-1G>A"	"r.spl"	"p.?"	"40i"	""	""
"0000875795"	"00005455"	"90"	"2939"	"0"	"2939"	"0"	"c.2939G>T"	"r.(?)"	"p.(Gly980Val)"	"41"	""	""
"0000875796"	"00005455"	"90"	"2953"	"0"	"2953"	"0"	"c.2953C>T"	"r.(?)"	"p.(Gln985Ter)"	"41"	""	""
"0000875797"	"00005455"	"90"	"2956"	"0"	"2956"	"0"	"c.2956G>A"	"r.(?)"	"p.(Gly986Ser)"	"41"	""	""
"0000875798"	"00005455"	"90"	"2972"	"0"	"2972"	"0"	"c.2972del"	"r.(?)"	"p.(Ser991MetfsTer117)"	"41"	""	""
"0000875799"	"00005455"	"90"	"2985"	"0"	"2985"	"0"	"c.2985del"	"r.(?)"	"p.(Pro997LeufsTer111)"	"41"	""	""
"0000875800"	"00005455"	"90"	"2990"	"0"	"2990"	"0"	"c.2990del"	"r.(?)"	"p.(Pro997LeufsTer111)"	"41"	""	""
"0000875801"	"00005455"	"90"	"2991"	"0"	"2991"	"0"	"c.2991del"	"r.(?)"	"p.(Gly998ValfsTer110)"	"41"	""	""
"0000875802"	"00005455"	"90"	"3001"	"0"	"3001"	"0"	"c.3001G>T"	"r.(?)"	"p.(Gly1001Cys)"	"41"	""	""
"0000875803"	"00005455"	"90"	"3008"	"0"	"3008"	"0"	"c.3008dup"	"r.(?)"	"p.(Gly1004TrpfsTer8)"	"41"	""	""
"0000875804"	"00005455"	"90"	"3008"	"0"	"3008"	"0"	"c.3008del"	"r.(?)"	"p.(Pro1003LeufsTer105)"	"41"	""	""
"0000875805"	"00005455"	"90"	"3026"	"0"	"3026"	"0"	"c.3026del"	"r.(?)"	"p.(Pro1009LeufsTer99)"	"41"	""	""
"0000875806"	"00005455"	"90"	"3027"	"0"	"3027"	"0"	"c.3027del"	"r.(?)"	"p.(Gly1010ValfsTer98)"	"41"	""	""
"0000875807"	"00005455"	"90"	"3028"	"0"	"3028"	"0"	"c.3028G>A"	"r.(?)"	"p.(Gly1010Ser)"	"41"	""	""
"0000875808"	"00005455"	"90"	"3038"	"0"	"3038"	"0"	"c.3038G>A"	"r.(?)"	"p.(Gly1013Glu)"	"41"	""	""
"0000875809"	"00005455"	"90"	"3045"	"1"	"3045"	"1"	"c.3045+1G>A"	"r.spl"	"p.?"	"41i"	""	""
"0000875810"	"00005455"	"90"	"3045"	"1"	"3045"	"1"	"c.3045+1G>T"	"r.spl"	"p.?"	"41i"	""	""
"0000875811"	"00005455"	"90"	"3045"	"2"	"3045"	"2"	"c.3045+2T>A"	"r.spl"	"p.?"	"41i"	""	""
"0000875812"	"00005455"	"90"	"3036"	"0"	"3045"	"2"	"c.3036_3045+2del"	"r.[(2938_3045del,3029_3045del)]"	"p.[(Gly980_Glu1015del,Glu1011GlyfsTer19)]"	"41_41i"	""	""
"0000875813"	"00005455"	"10"	"3046"	"-6"	"3046"	"-5"	"c.3046-6_3046-5dup"	"r.spl?"	"p.?"	"41i"	""	""
"0000875814"	"00005455"	"10"	"3046"	"-6"	"3046"	"-5"	"c.3046-6_3046-5del"	"r.spl?"	"p.?"	"41i"	""	""
"0000875815"	"00005455"	"90"	"3046"	"-2"	"3046"	"-2"	"c.3046-2A>G"	"r.spl"	"p.?"	"41i"	""	""
"0000875816"	"00005455"	"90"	"3046"	"-1"	"3046"	"-1"	"c.3046-1G>A"	"r.spl"	"p.?"	"41i"	""	""
"0000875817"	"00005455"	"90"	"3046"	"-1"	"3046"	"-1"	"c.3046-1G>T"	"r.spl"	"p.?"	"41i"	""	""
"0000875818"	"00005455"	"90"	"3046"	"0"	"3046"	"0"	"c.3046G>C"	"r.spl?"	"p.(Gly1016Arg)"	"42"	""	""
"0000875819"	"00005455"	"90"	"3065"	"0"	"3065"	"0"	"c.3065del"	"r.(?)"	"p.(Gly1022ValfsTer86)"	"42"	""	""
"0000875820"	"00005455"	"90"	"3064"	"0"	"3064"	"0"	"c.3064G>A"	"r.(?)"	"p.(Gly1022Ser)"	"42"	""	""
"0000875821"	"00005455"	"90"	"3065"	"0"	"3065"	"0"	"c.3065G>C"	"r.(?)"	"p.(Gly1022Ala)"	"42"	""	""
"0000875822"	"00005455"	"90"	"3065"	"0"	"3065"	"0"	"c.3065G>T"	"r.(?)"	"p.(Gly1022Val)"	"42"	""	""
"0000875823"	"00005455"	"90"	"3070"	"0"	"3071"	"0"	"c.3070_3071delinsG"	"r.(?)"	"p.(Pro1024ValfsTer84)"	"42"	""	""
"0000875824"	"00005455"	"90"	"3074"	"0"	"3074"	"0"	"c.3074del"	"r.(?)"	"p.(Gly1025AspfsTer83)"	"42"	""	""
"0000875825"	"00005455"	"90"	"3073"	"0"	"3073"	"0"	"c.3073G>A"	"r.(?)"	"p.(Gly1025Arg)"	"42"	""	""
"0000875826"	"00005455"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026Ter)"	"42"	""	""
"0000875827"	"00005455"	"90"	"3079"	"0"	"3079"	"0"	"c.3079del"	"r.(?)"	"p.(Asp1027ThrfsTer81)"	"42"	""	""
"0000875828"	"00005455"	"90"	"3082"	"0"	"3082"	"0"	"c.3082G>A"	"r.(?)"	"p.(Gly1028Ser)"	"42"	""	""
"0000875829"	"00005455"	"90"	"3099"	"1"	"3099"	"1"	"c.3099+1G>A"	"r.spl"	"p.?"	"42i"	""	""
"0000875830"	"00005455"	"90"	"3100"	"-2"	"3100"	"-2"	"c.3100-2A>C"	"r.spl"	"p.?"	"42i"	""	""
"0000875831"	"00005455"	"90"	"3100"	"-2"	"3100"	"-2"	"c.3100-2A>G"	"r.3100_3207del"	"p.?"	"42i"	""	""
"0000875832"	"00005455"	"90"	"3100"	"-1"	"3100"	"-1"	"c.3100-1G>A"	"r.spl"	"p.?"	"42i"	""	""
"0000875833"	"00005455"	"90"	"3114"	"0"	"3114"	"0"	"c.3114del"	"r.(?)"	"p.(Thr1039ProfsTer69)"	"43"	""	""
"0000875834"	"00005455"	"90"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	"43"	""	""
"0000875835"	"00005455"	"90"	"3118"	"0"	"3118"	"0"	"c.3118G>C"	"r.(?)"	"p.(Gly1040Arg)"	"43"	""	""
"0000875836"	"00005455"	"90"	"3124"	"0"	"3134"	"0"	"c.3124_3134del"	"r.(?)"	"p.(Ala1042TrpfsTer20)"	"43"	""	""
"0000875837"	"00005455"	"90"	"3129"	"0"	"3137"	"0"	"c.3129_3137del"	"r.(?)"	"p.(Pro1044_Gly1046del)"	"43"	""	""
"0000875838"	"00005455"	"90"	"3135"	"0"	"3135"	"0"	"c.3135del"	"r.(?)"	"p.(Gly1046ValfsTer62)"	"43"	""	""
"0000875839"	"00005455"	"90"	"3136"	"0"	"3136"	"0"	"c.3136G>A"	"r.(?)"	"p.(Gly1046Ser)"	"43"	""	""
"0000875840"	"00005455"	"90"	"3136"	"0"	"3136"	"0"	"c.3136G>T"	"r.(?)"	"p.(Gly1046Cys)"	"43"	""	""
"0000875841"	"00005455"	"90"	"3132"	"0"	"3140"	"0"	"c.3132_3140del"	"r.(?)"	"p.(Pro1045_Ala1047del)"	"43"	""	""
"0000875842"	"00005455"	"90"	"3150"	"0"	"3158"	"0"	"c.3150_3158del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"43"	""	""
"0000875843"	"00005455"	"90"	"3145"	"0"	"3145"	"0"	"c.3145G>A"	"r.(?)"	"p.(Gly1049Ser)"	"43"	""	""
"0000875844"	"00005455"	"90"	"3154"	"0"	"3154"	"0"	"c.3154G>A"	"r.(?)"	"p.(Gly1052Ser)"	"43"	""	""
"0000875845"	"00005455"	"90"	"3154"	"0"	"3154"	"0"	"c.3154G>T"	"r.(?)"	"p.(Gly1052Cys)"	"43"	""	""
"0000875846"	"00005455"	"90"	"3155"	"0"	"3155"	"0"	"c.3155G>A"	"r.(?)"	"p.(Gly1052Asp)"	"43"	""	""
"0000875847"	"00005455"	"90"	"3156"	"0"	"3164"	"0"	"c.3156_3164del"	"r.(?)"	"p.(Ala1053_Gly1055del)"	"43"	""	""
"0000875848"	"00005455"	"90"	"3162"	"0"	"3162"	"0"	"c.3162del"	"r.(?)"	"p.(Gly1055AlafsTer53)"	"43"	""	""
"0000875849"	"00005455"	"90"	"3164"	"0"	"3164"	"0"	"c.3164G>A"	"r.(?)"	"p.(Gly1055Asp)"	"43"	""	""
"0000875850"	"00005455"	"90"	"3168"	"0"	"3168"	"0"	"c.3168dup"	"r.(?)"	"p.(Val1057ArgfsTer9)"	"43"	""	""
"0000875851"	"00005455"	"90"	"3172"	"0"	"3172"	"0"	"c.3172G>A"	"r.(?)"	"p.(Gly1058Ser)"	"43"	""	""
"0000875852"	"00005455"	"90"	"3178"	"0"	"3178"	"0"	"c.3178del"	"r.(?)"	"p.(Ala1060LeufsTer48)"	"43"	""	""
"0000875853"	"00005455"	"90"	"3181"	"0"	"3181"	"0"	"c.3181G>A"	"r.(?)"	"p.(Gly1061Ser)"	"43"	""	""
"0000875854"	"00005455"	"90"	"3182"	"0"	"3182"	"0"	"c.3182G>A"	"r.(?)"	"p.(Gly1061Asp)"	"43"	""	""
"0000875855"	"00005455"	"90"	"3191"	"0"	"3191"	"0"	"c.3191G>C"	"r.(?)"	"p.(Gly1064Ala)"	"43"	""	""
"0000875856"	"00005455"	"90"	"3201"	"0"	"3201"	"0"	"c.3201del"	"r.(?)"	"p.(Glu1068ArgfsTer40)"	"43"	""	""
"0000875857"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>A"	"r.3200_3207del"	"p.Glu1068SerfsTer25"	"43i"	""	""
"0000875858"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>C"	"r.spl"	"p.?"	"43i"	""	""
"0000875859"	"00005455"	"90"	"3207"	"1"	"3207"	"1"	"c.3207+1G>T"	"r.spl"	"p.?"	"43i"	""	""
"0000875860"	"00005455"	"90"	"3207"	"1"	"3207"	"2"	"c.3207+1_3207+2del"	"r.spl"	"p.?"	"43i"	""	""
"0000875861"	"00005455"	"70"	"3207"	"2"	"3207"	"2"	"c.3207+2dup"	"r.spl"	"p.?"	"43i"	""	""
"0000875862"	"00005455"	"90"	"3207"	"2"	"3207"	"2"	"c.3207+2T>C"	"r.spl"	"p.?"	"43i"	""	""
"0000875863"	"00005455"	"70"	"3207"	"5"	"3207"	"5"	"c.3207+5G>A"	"r.spl?"	"p.?"	"43i"	""	""
"0000875864"	"00005455"	"70"	"3207"	"5"	"3207"	"5"	"c.3207+5G>T"	"r.spl?"	"p.?"	"43i"	""	""
"0000875865"	"00005455"	"90"	"3207"	"2"	"3207"	"8"	"c.3207+2_3207+8del"	"r.spl"	"p.?"	"43i"	""	""
"0000875866"	"00005455"	"30"	"3208"	"-6"	"3208"	"-6"	"c.3208-6C>T"	"r.(?)"	"p.(=)"	"43i"	""	""
"0000875867"	"00005455"	"90"	"3208"	"-2"	"3208"	"-2"	"c.3208-2A>C"	"r.spl"	"p.?"	"43i"	""	""
"0000875868"	"00005455"	"90"	"3208"	"-1"	"3208"	"-1"	"c.3208-1G>A"	"r.spl"	"p.?"	"43i"	""	""
"0000875869"	"00005455"	"90"	"3208"	"-1"	"3208"	"-1"	"c.3208-1G>C"	"r.spl"	"p.?"	"43i"	""	""
"0000875870"	"00005455"	"90"	"3208"	"0"	"3208"	"0"	"c.3208G>A"	"r.spl?"	"p.(Gly1070Ser)"	"44"	""	""
"0000875871"	"00005455"	"90"	"3208"	"-2"	"3213"	"0"	"c.3208-2_3213del"	"r.spl"	"p.?"	"43i_44"	""	""
"0000875872"	"00005455"	"90"	"3217"	"0"	"3217"	"0"	"c.3217G>A"	"r.(?)"	"p.(Gly1073Ser)"	"44"	""	""
"0000875873"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"44"	""	""
"0000875874"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>T"	"r.(?)"	"p.(Gly1076Cys)"	"44"	""	""
"0000875875"	"00005455"	"90"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	"44"	""	""
"0000875876"	"00005455"	"90"	"3235"	"0"	"3235"	"0"	"c.3235G>C"	"r.(?)"	"p.(Gly1079Arg)"	"44"	""	""
"0000875877"	"00005455"	"90"	"3233"	"0"	"3236"	"0"	"c.3233_3236del"	"r.(?)"	"p.(Val1078AlafsTer29)"	"44"	""	""
"0000875878"	"00005455"	"90"	"3239"	"0"	"3239"	"0"	"c.3239del"	"r.(?)"	"p.(Pro1080LeufsTer28)"	"44"	""	""
"0000875879"	"00005455"	"90"	"3241"	"0"	"3241"	"0"	"c.3241del"	"r.(?)"	"p.(Val1081LeufsTer27)"	"44"	""	""
"0000875880"	"00005455"	"10"	"3243"	"0"	"3243"	"0"	"c.3243T>C"	"r.(?)"	"p.(Val1081=)"	"44"	""	""
"0000875881"	"00005455"	"90"	"3244"	"0"	"3244"	"0"	"c.3244G>T"	"r.(?)"	"p.(Gly1082Cys)"	"44"	""	""
"0000875882"	"00005455"	"90"	"3253"	"0"	"3253"	"0"	"c.3253G>A"	"r.(?)"	"p.(Gly1085Ser)"	"44"	""	""
"0000875883"	"00005455"	"90"	"3256"	"0"	"3259"	"0"	"c.3256_3259delinsGC"	"r.(?)"	"p.(Pro1086AlafsTer9)"	"44"	""	""
"0000875884"	"00005455"	"90"	"3261"	"1"	"3261"	"1"	"c.3261+1G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000875885"	"00005455"	"90"	"3261"	"2"	"3261"	"2"	"c.3261+2T>C"	"r.3208_3261del"	"p.?"	"44i"	""	""
"0000875886"	"00005455"	"90"	"3262"	"-1"	"3262"	"-1"	"c.3262-1G>A"	"r.spl"	"p.?"	"44i"	""	""
"0000875887"	"00005455"	"90"	"3262"	"-1"	"3262"	"-1"	"c.3262-1G>C"	"r.spl"	"p.?"	"44i"	""	""
"0000875888"	"00005455"	"90"	"3262"	"0"	"3262"	"0"	"c.3262G>T"	"r.spl?"	"p.(Gly1088Ter)"	"45"	""	""
"0000875889"	"00005455"	"90"	"3263"	"0"	"3263"	"0"	"c.3263G>A"	"r.(?)"	"p.(Gly1088Glu)"	"45"	""	""
"0000875890"	"00005455"	"90"	"3263"	"0"	"3263"	"0"	"c.3263G>C"	"r.(?)"	"p.(Gly1088Ala)"	"45"	""	""
"0000875891"	"00005455"	"90"	"3263"	"0"	"3263"	"0"	"c.3263G>T"	"r.(?)"	"p.(Gly1088Val)"	"45"	""	""
"0000875892"	"00005455"	"90"	"3268"	"0"	"3268"	"0"	"c.3268del"	"r.(?)"	"p.(Gln1090LysfsTer18)"	"45"	""	""
"0000875893"	"00005455"	"90"	"3271"	"0"	"3271"	"0"	"c.3271G>A"	"r.(?)"	"p.(Gly1091Ser)"	"45"	""	""
"0000875894"	"00005455"	"90"	"3277"	"0"	"3277"	"0"	"c.3277del"	"r.(?)"	"p.(Arg1093ValfsTer15)"	"45"	""	""
"0000875895"	"00005455"	"90"	"3277"	"0"	"3277"	"0"	"c.3277dup"	"r.(?)"	"p.(Arg1093ProfsTer3)"	"45"	""	""
"0000875896"	"00005455"	"90"	"3280"	"0"	"3280"	"0"	"c.3280G>A"	"r.(?)"	"p.(Gly1094Ser)"	"45"	""	""
"0000875897"	"00005455"	"90"	"3285"	"0"	"3286"	"0"	"c.3285_3286dup"	"r.(?)"	"p.(Lys1096GlnfsTer3)"	"45"	""	""
"0000875898"	"00005455"	"90"	"3290"	"0"	"3290"	"0"	"c.3290G>T"	"r.(?)"	"p.(Gly1097Val)"	"45"	""	""
"0000875899"	"00005455"	"90"	"3299"	"0"	"3299"	"0"	"c.3299G>A"	"r.(?)"	"p.(Gly1100Asp)"	"45"	""	""
"0000875900"	"00005455"	"90"	"3304"	"0"	"3304"	"0"	"c.3304C>T"	"r.(?)"	"p.(Gln1102Ter)"	"45"	""	""
"0000875901"	"00005455"	"90"	"3309"	"0"	"3309"	"0"	"c.3309del"	"r.(?)"	"p.(Asp1104ThrfsTer4)"	"45"	""	""
"0000875902"	"00005455"	"90"	"3307"	"0"	"3314"	"0"	"c.3307_3314del"	"r.(?)"	"p.(Gly1103ArgfsTer23)"	"45"	""	""
"0000875903"	"00005455"	"90"	"3313"	"0"	"3313"	"0"	"c.3313del"	"r.(?)"	"p.(Arg1105GlufsTer3)"	"45"	""	""
"0000875904"	"00005455"	"90"	"3317"	"0"	"3317"	"0"	"c.3317G>C"	"r.(?)"	"p.(Gly1106Ala)"	"45"	""	""
"0000875905"	"00005455"	"90"	"3318"	"0"	"3325"	"0"	"c.3318_3325del"	"r.(?)"	"p.(Ile1107SerfsTer19)"	"45"	""	""
"0000875906"	"00005455"	"90"	"3325"	"0"	"3325"	"0"	"c.3325G>A"	"r.(?)"	"p.(Gly1109Ser)"	"45"	""	""
"0000875907"	"00005455"	"90"	"3328"	"0"	"3328"	"0"	"c.3328del"	"r.(?)"	"p.(His1110ThrfsTer129)"	"45"	""	""
"0000875908"	"00005455"	"90"	"3349"	"0"	"3349"	"0"	"c.3349C>T"	"r.(?)"	"p.(Gln1117Ter)"	"45"	""	""
"0000875909"	"00005455"	"90"	"3355"	"0"	"3360"	"0"	"c.3355_3360del"	"r.(?)"	"p.(Pro1119_Pro1120del)"	"45"	""	""
"0000875910"	"00005455"	"90"	"3360"	"0"	"3360"	"0"	"c.3360del"	"r.(?)"	"p.(Gly1121AlafsTer118)"	"45"	""	""
"0000875911"	"00005455"	"90"	"3369"	"1"	"3369"	"1"	"c.3369+1G>A"	"r.spl"	"p.?"	"45i"	""	""
"0000875912"	"00005455"	"90"	"3369"	"1"	"3369"	"1"	"c.3369+1G>C"	"r.spl"	"p.?"	"45i"	""	""
"0000875913"	"00005455"	"90"	"3369"	"1"	"3369"	"1"	"c.3369+1G>T"	"r.[3369_3370insauaa,3290_3369del]"	"p.?"	"45i"	""	""
"0000875914"	"00005455"	"90"	"3360"	"0"	"3369"	"15"	"c.3360_3369+15del"	"r.spl"	"p.?"	"45_45i"	""	""
"0000875915"	"00005455"	"90"	"3370"	"0"	"3370"	"0"	"c.3370G>T"	"r.spl?"	"p.(Gly1124Cys)"	"46"	""	""
"0000875916"	"00005455"	"90"	"3380"	"0"	"3380"	"0"	"c.3380G>A"	"r.(?)"	"p.(Gly1127Asp)"	"46"	""	""
"0000875917"	"00005455"	"90"	"3385"	"0"	"3385"	"0"	"c.3385C>T"	"r.(?)"	"p.(Gln1129Ter)"	"46"	""	""
"0000875918"	"00005455"	"90"	"3389"	"0"	"3389"	"0"	"c.3389G>A"	"r.(?)"	"p.(Gly1130Asp)"	"46"	""	""
"0000875919"	"00005455"	"90"	"3398"	"0"	"3398"	"0"	"c.3398G>A"	"r.(?)"	"p.(Gly1133Glu)"	"46"	""	""
"0000875920"	"00005455"	"90"	"3398"	"0"	"3398"	"0"	"c.3398G>C"	"r.(?)"	"p.(Gly1133Ala)"	"46"	""	""
"0000875921"	"00005455"	"90"	"3399"	"0"	"3400"	"0"	"c.3399_3400del"	"r.(?)"	"p.(Ala1134LeufsTer39)"	"46"	""	""
"0000875922"	"00005455"	"90"	"3402"	"0"	"3402"	"0"	"c.3402del"	"r.(?)"	"p.(Ser1135LeufsTer104)"	"46"	""	""
"0000875923"	"00005455"	"90"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141Ter)"	"46"	""	""
"0000875924"	"00005455"	"90"	"3423"	"1"	"3423"	"1"	"c.3423+1G>A"	"r.spl"	"p.?"	"46i"	""	""
"0000875925"	"00005455"	"90"	"3423"	"2"	"3423"	"2"	"c.3423+2T>A"	"r.spl"	"p.?"	"46i"	""	""
"0000875926"	"00005455"	"90"	"3424"	"-1"	"3424"	"-1"	"c.3424-1G>A"	"r.spl"	"p.?"	"46i"	""	""
"0000875927"	"00005455"	"90"	"3424"	"-1"	"3424"	"-1"	"c.3424-1G>C"	"r.spl"	"p.?"	"46i"	""	""
"0000875928"	"00005455"	"90"	"3424"	"0"	"3424"	"0"	"c.3424G>A"	"r.spl?"	"p.(Gly1142Ser)"	"47"	""	""
"0000875929"	"00005455"	"90"	"3433"	"0"	"3433"	"0"	"c.3433G>A"	"r.(?)"	"p.(Gly1145Ser)"	"47"	""	""
"0000875930"	"00005455"	"90"	"3433"	"0"	"3433"	"0"	"c.3433G>T"	"r.(?)"	"p.(Gly1145Cys)"	"47"	""	""
"0000875931"	"00005455"	"90"	"3434"	"0"	"3434"	"0"	"c.3434G>A"	"r.(?)"	"p.(Gly1145Asp)"	"47"	""	""
"0000875932"	"00005455"	"90"	"3450"	"0"	"3450"	"0"	"c.3450dup"	"r.(?)"	"p.(Gly1151TrpfsTer23)"	"47"	""	""
"0000875933"	"00005455"	"90"	"3451"	"0"	"3451"	"0"	"c.3451G>A"	"r.(?)"	"p.(Gly1151Ser)"	"47"	""	""
"0000875934"	"00005455"	"90"	"3452"	"0"	"3452"	"0"	"c.3452G>T"	"r.(?)"	"p.(Gly1151Val)"	"47"	""	""
"0000875935"	"00005455"	"10"	"3459"	"0"	"3459"	"0"	"c.3459T>C"	"r.(?)"	"p.(Asp1153=)"	"47"	""	""
"0000875936"	"00005455"	"90"	"3460"	"0"	"3460"	"0"	"c.3460G>A"	"r.(?)"	"p.(Gly1154Arg)"	"47"	""	""
"0000875937"	"00005455"	"90"	"3470"	"0"	"3470"	"0"	"c.3470G>A"	"r.(?)"	"p.(Gly1157Asp)"	"47"	""	""
"0000875938"	"00005455"	"90"	"3477"	"0"	"3477"	"0"	"c.3477del"	"r.(?)"	"p.(Gly1160AlafsTer79)"	"47"	""	""
"0000875939"	"00005455"	"90"	"3489"	"0"	"3489"	"0"	"c.3489del"	"r.(?)"	"p.(Pro1165LeufsTer74)"	"47"	""	""
"0000875940"	"00005455"	"90"	"3494"	"0"	"3494"	"0"	"c.3494del"	"r.(?)"	"p.(Pro1165LeufsTer74)"	"47"	""	""
"0000875941"	"00005455"	"90"	"3480"	"0"	"3497"	"0"	"c.3480_3497del"	"r.(?)"	"p.(Ile1162_Pro1167del)"	"47"	""	""
"0000875942"	"00005455"	"90"	"3495"	"0"	"3495"	"0"	"c.3495del"	"r.(?)"	"p.(Gly1166ValfsTer73)"	"47"	""	""
"0000875943"	"00005455"	"90"	"3496"	"0"	"3496"	"0"	"c.3496G>T"	"r.(?)"	"p.(Gly1166Cys)"	"47"	""	""
"0000875944"	"00005455"	"90"	"3497"	"0"	"3497"	"0"	"c.3497G>C"	"r.(?)"	"p.(Gly1166Ala)"	"47"	""	""
"0000875945"	"00005455"	"90"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	"47"	""	""
"0000875946"	"00005455"	"90"	"3505"	"0"	"3505"	"0"	"c.3505G>T"	"r.(?)"	"p.(Gly1169Cys)"	"47"	""	""
"0000875947"	"00005455"	"90"	"3514"	"0"	"3514"	"0"	"c.3514G>C"	"r.(?)"	"p.(Gly1172Arg)"	"47"	""	""
"0000875948"	"00005455"	"90"	"3515"	"0"	"3515"	"0"	"c.3515G>A"	"r.(?)"	"p.(Gly1172Asp)"	"47"	""	""
"0000875949"	"00005455"	"90"	"3524"	"0"	"3524"	"0"	"c.3524del"	"r.(?)"	"p.(Gly1175ValfsTer64)"	"47"	""	""
"0000875950"	"00005455"	"90"	"3523"	"0"	"3523"	"0"	"c.3523G>A"	"r.(?)"	"p.(Gly1175Ser)"	"47"	""	""
"0000875951"	"00005455"	"90"	"3523"	"0"	"3523"	"0"	"c.3523G>T"	"r.(?)"	"p.(Gly1175Cys)"	"47"	""	""
"0000875952"	"00005455"	"90"	"3524"	"0"	"3524"	"0"	"c.3524G>C"	"r.(?)"	"p.(Gly1175Ala)"	"47"	""	""
"0000875953"	"00005455"	"90"	"3531"	"1"	"3531"	"1"	"c.3531+1G>A"	"r.spl"	"p.?"	"47i"	""	""
"0000875954"	"00005455"	"90"	"3531"	"1"	"3531"	"1"	"c.3531+1G>C"	"r.spl"	"p.?"	"47i"	""	""
"0000875955"	"00005455"	"90"	"3531"	"1"	"3531"	"1"	"c.3531+1G>T"	"r.spl"	"p.?"	"47i"	""	""
"0000875956"	"00005455"	"90"	"3531"	"2"	"3531"	"2"	"c.3531+2T>C"	"r.spl"	"p.?"	"47i"	""	""
"0000875957"	"00005455"	"90"	"3532"	"-2"	"3532"	"-2"	"c.3532-2A>G"	"r.spl"	"p.?"	"47i"	""	""
"0000875958"	"00005455"	"90"	"3532"	"-3"	"3532"	"-1"	"c.3532-3_3532-1del"	"r.spl"	"p.?"	"47i"	""	""
"0000875959"	"00005455"	"90"	"3533"	"0"	"3533"	"0"	"c.3533del"	"r.(?)"	"p.(Gly1178ValfsTer61)"	"48"	""	""
"0000875960"	"00005455"	"90"	"3532"	"-1"	"3532"	"-1"	"c.3532-1G>A"	"r.spl"	"p.?"	"47i"	""	""
"0000875961"	"00005455"	"90"	"3532"	"0"	"3532"	"0"	"c.3532G>A"	"r.(?)"	"p.(Gly1178Ser)"	"48"	""	""
"0000875962"	"00005455"	"90"	"3533"	"0"	"3533"	"0"	"c.3533G>T"	"r.(?)"	"p.(Gly1178Val)"	"48"	""	""
"0000875963"	"00005455"	"90"	"3540"	"0"	"3540"	"0"	"c.3540dup"	"r.(?)"	"p.(Gly1181ArgfsTer39)"	"48"	""	""
"0000875964"	"00005455"	"90"	"3540"	"0"	"3540"	"0"	"c.3540del"	"r.(?)"	"p.(Gly1181AlafsTer58)"	"48"	""	""
"0000875965"	"00005455"	"90"	"3541"	"0"	"3541"	"0"	"c.3541G>A"	"r.(?)"	"p.(Gly1181Ser)"	"48"	""	""
"0000875966"	"00005455"	"90"	"3533"	"0"	"3542"	"0"	"c.3533_3542del"	"r.(?)"	"p.(Gly1178AlafsTer58)"	"48"	""	""
"0000875967"	"00005455"	"90"	"3542"	"0"	"3543"	"0"	"c.3542_3543delinsAA"	"r.(?)"	"p.(Gly1181Glu)"	"48"	""	""
"0000875968"	"00005455"	"90"	"3551"	"0"	"3551"	"0"	"c.3551G>T"	"r.(?)"	"p.(Gly1184Val)"	"48"	""	""
"0000875969"	"00005455"	"90"	"3560"	"0"	"3560"	"0"	"c.3560del"	"r.(?)"	"p.(Gly1187ValfsTer52)"	"48"	""	""
"0000875970"	"00005455"	"90"	"3559"	"0"	"3559"	"0"	"c.3559G>A"	"r.(?)"	"p.(Gly1187Ser)"	"48"	""	""
"0000875971"	"00005455"	"90"	"3559"	"0"	"3559"	"0"	"c.3559G>C"	"r.(?)"	"p.(Gly1187Arg)"	"48"	""	""
"0000875972"	"00005455"	"90"	"3559"	"0"	"3559"	"0"	"c.3559G>T"	"r.(?)"	"p.(Gly1187Cys)"	"48"	""	""
"0000875973"	"00005455"	"90"	"3560"	"0"	"3560"	"0"	"c.3560G>T"	"r.(?)"	"p.(Gly1187Val)"	"48"	""	""
"0000875974"	"00005455"	"90"	"3566"	"0"	"3566"	"0"	"c.3566del"	"r.(?)"	"p.(Pro1189LeufsTer50)"	"48"	""	""
"0000875975"	"00005455"	"90"	"3564"	"0"	"3572"	"0"	"c.3564_3572dup"	"r.(?)"	"p.(Gly1190_Pro1192dup)"	"48"	""	""
"0000875976"	"00005455"	"90"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.(?)"	"p.(Gly1190ValfsTer49)"	"48"	""	""
"0000875977"	"00005455"	"90"	"3569"	"0"	"3569"	"0"	"c.3569G>A"	"r.(?)"	"p.(Gly1190Asp)"	"48"	""	""
"0000875978"	"00005455"	"90"	"3580"	"0"	"3581"	"0"	"c.3580_3581del"	"r.(?)"	"p.(Ala1194TrpfsTer25)"	"48"	""	""
"0000875979"	"00005455"	"90"	"3584"	"0"	"3584"	"0"	"c.3584del"	"r.(?)"	"p.(Gly1195ValfsTer44)"	"48"	""	""
"0000875980"	"00005455"	"90"	"3589"	"0"	"3590"	"0"	"c.3589_3590del"	"r.(?)"	"p.(Asp1197LeufsTer22)"	"48"	""	""
"0000875981"	"00005455"	"90"	"3607"	"0"	"3607"	"0"	"c.3607C>T"	"r.(?)"	"p.(Gln1203Ter)"	"48"	""	""
"0000875982"	"00005455"	"90"	"3616"	"0"	"3616"	"0"	"c.3616C>T"	"r.(?)"	"p.(Gln1206Ter)"	"48"	""	""
"0000875983"	"00005455"	"90"	"3638"	"0"	"3638"	"0"	"c.3638del"	"r.(?)"	"p.(Gly1213AlafsTer26)"	"48"	""	""
"0000875984"	"00005455"	"90"	"3646"	"0"	"3646"	"0"	"c.3646del"	"r.(?)"	"p.(Tyr1216ThrfsTer23)"	"48"	""	""
"0000875985"	"00005455"	"90"	"3653"	"0"	"3653"	"0"	"c.3653del"	"r.(?)"	"p.(Ala1218ValfsTer21)"	"48"	""	""
"0000875986"	"00005455"	"90"	"3654"	"0"	"3662"	"0"	"c.3654_3662del"	"r.(?)"	"p.(Asp1219_Ala1221del)"	"48"	""	""
"0000875987"	"00005455"	"90"	"3699"	"0"	"3699"	"0"	"c.3699dup"	"r.(?)"	"p.(Thr1234HisfsTer28)"	"48"	""	""
"0000875988"	"00005455"	"90"	"3718"	"0"	"3718"	"0"	"c.3718C>T"	"r.(?)"	"p.(Gln1240Ter)"	"48"	""	""
"0000875989"	"00005455"	"90"	"3727"	"0"	"3727"	"0"	"c.3727G>T"	"r.(?)"	"p.(Glu1243Ter)"	"48"	""	""
"0000875990"	"00005455"	"90"	"3741"	"0"	"3747"	"0"	"c.3741_3747del"	"r.(?)"	"p.(Ser1247ArgfsTer82)"	"48"	""	""
"0000875991"	"00005455"	"90"	"3749"	"0"	"3749"	"0"	"c.3749del"	"r.(?)"	"p.(Gly1250AlafsTer81)"	"48"	""	""
"0000875992"	"00005455"	"90"	"3748"	"0"	"3752"	"0"	"c.3748_3752dup"	"r.(?)"	"p.(Ser1251ArgfsTer82)"	"48"	""	""
"0000875993"	"00005455"	"90"	"3758"	"0"	"3758"	"0"	"c.3758dup"	"r.(?)"	"p.(Asn1254GlufsTer8)"	"48"	""	""
"0000875994"	"00005455"	"90"	"3759"	"0"	"3759"	"0"	"c.3759del"	"r.(?)"	"p.(Asn1254ThrfsTer77)"	"48"	""	""
"0000875995"	"00005455"	"90"	"3765"	"0"	"3765"	"0"	"c.3765del"	"r.(?)"	"p.(Ala1256ProfsTer75)"	"48"	""	""
"0000875996"	"00005455"	"90"	"3766"	"0"	"3766"	"0"	"c.3766del"	"r.(?)"	"p.(Ala1256ProfsTer75)"	"48"	""	""
"0000875997"	"00005455"	"90"	"3788"	"0"	"3788"	"0"	"c.3788del"	"r.(?)"	"p.(Lys1263ArgfsTer68)"	"48"	""	""
"0000875998"	"00005455"	"90"	"3790"	"0"	"3790"	"0"	"c.3790A>G"	"r.[3790a>g,3790_3814del]"	"p.[Met1264Val,Met1264GlufsTer59]"	"48"	""	""
"0000875999"	"00005455"	"90"	"3782"	"0"	"3794"	"0"	"c.3782_3794del"	"r.(?)"	"p.(Asp1261AlafsTer66)"	"48"	""	""
"0000876000"	"00005455"	"90"	"3803"	"0"	"3806"	"0"	"c.3803_3806del"	"r.(?)"	"p.(Asp1268GlyfsTer62)"	"48"	""	""
"0000876001"	"00005455"	"90"	"3806"	"0"	"3806"	"0"	"c.3806G>A"	"r.(?)"	"p.(Trp1269Ter)"	"48"	""	""
"0000876002"	"00005455"	"90"	"3807"	"0"	"3807"	"0"	"c.3807G>A"	"r.(?)"	"p.(Trp1269Ter)"	"48"	""	""
"0000876003"	"00005455"	"90"	"3814"	"1"	"3814"	"1"	"c.3814+1G>C"	"r.spl"	"p.?"	"48i"	""	""
"0000876004"	"00005455"	"90"	"3814"	"2"	"3814"	"2"	"c.3814+2T>C"	"r.3814_3815ins[gc;3814+3_3815-1]"	"p.?"	"48i"	""	""
"0000876005"	"00005455"	"90"	"3814"	"2"	"3814"	"2"	"c.3814+2T>G"	"r.spl"	"p.?"	"48i"	""	""
"0000876006"	"00005455"	"90"	"3815"	"-2"	"3815"	"-2"	"c.3815-2A>G"	"r.spl"	"p.?"	"48i"	""	""
"0000876007"	"00005455"	"90"	"3815"	"-1"	"3815"	"-1"	"c.3815-1G>A"	"r.spl"	"p.?"	"48i"	""	""
"0000876008"	"00005455"	"90"	"3824"	"0"	"3824"	"0"	"c.3824G>A"	"r.(?)"	"p.(Trp1275Ter)"	"49"	""	""
"0000876009"	"00005455"	"90"	"3825"	"0"	"3825"	"0"	"c.3825G>A"	"r.(?)"	"p.(Trp1275Ter)"	"49"	""	""
"0000876010"	"00005455"	"90"	"3837"	"0"	"3840"	"0"	"c.3837_3840del"	"r.(?)"	"p.(Asn1279LysfsTer51)"	"49"	""	""
"0000876011"	"00005455"	"90"	"3838"	"0"	"3838"	"0"	"c.3838C>T"	"r.(?)"	"p.(Gln1280Ter)"	"49"	""	""
"0000876012"	"00005455"	"90"	"3885"	"0"	"3885"	"0"	"c.3885del"	"r.(?)"	"p.(Gly1296ValfsTer35)"	"49"	""	""
"0000876013"	"00005455"	"90"	"3882"	"0"	"3891"	"0"	"c.3882_3891del"	"r.(?)"	"p.(Thr1295ProfsTer33)"	"49"	""	""
"0000876014"	"00005455"	"90"	"3897"	"0"	"3897"	"0"	"c.3897C>A"	"r.(?)"	"p.(Cys1299Ter)"	"49"	""	""
"0000876015"	"00005455"	"90"	"3900"	"0"	"3900"	"0"	"c.3900del"	"r.(?)"	"p.(Tyr1301ThrfsTer30)"	"49"	""	""
"0000876016"	"00005455"	"90"	"3910"	"0"	"3910"	"0"	"c.3910C>T"	"r.(?)"	"p.(Gln1304Ter)"	"49"	""	""
"0000876017"	"00005455"	"90"	"3925"	"0"	"3925"	"0"	"c.3925C>T"	"r.(?)"	"p.(Gln1309Ter)"	"49"	""	""
"0000876018"	"00005455"	"90"	"3935"	"0"	"3935"	"0"	"c.3935G>A"	"r.(?)"	"p.(Trp1312Ter)"	"49"	""	""
"0000876019"	"00005455"	"90"	"3969"	"0"	"3969"	"0"	"c.3969dup"	"r.(?)"	"p.(Val1324CysfsTer105)"	"49"	""	""
"0000876020"	"00005455"	"90"	"3974"	"0"	"3974"	"0"	"c.3974G>A"	"r.(?)"	"p.(Trp1325Ter)"	"49"	""	""
"0000876021"	"00005455"	"90"	"3975"	"0"	"3975"	"0"	"c.3975G>A"	"r.(?)"	"p.(Trp1325Ter)"	"49"	""	""
"0000876022"	"00005455"	"90"	"3987"	"0"	"3987"	"0"	"c.3987del"	"r.(?)"	"p.(Ser1329ArgfsTer2)"	"49"	""	""
"0000876023"	"00005455"	"90"	"4005"	"1"	"4005"	"1"	"c.4005+1G>A"	"r.spl"	"p.?"	"49i"	""	""
"0000876024"	"00005455"	"90"	"4005"	"1"	"4005"	"1"	"c.4005+1G>C"	"r.spl"	"p.?"	"49i"	""	""
"0000876025"	"00005455"	"90"	"4005"	"1"	"4005"	"1"	"c.4005+1G>T"	"r.spl"	"p.?"	"49i"	""	""
"0000876026"	"00005455"	"70"	"4005"	"5"	"4005"	"5"	"c.4005+5G>A"	"r.spl?"	"p.?"	"49i"	""	""
"0000876027"	"00005455"	"10"	"4006"	"-33"	"4006"	"-33"	"c.4006-33G>A"	"r.spl?"	"p.(=)"	"49i"	""	""
"0000876028"	"00005455"	"90"	"4006"	"-1"	"4006"	"-1"	"c.4006-1G>A"	"r.spl"	"p.(Phe1336ValfsTer72)"	"49i"	""	""
"0000876029"	"00005455"	"90"	"4009"	"0"	"4009"	"0"	"c.4009G>T"	"r.(?)"	"p.(Glu1337Ter)"	"50"	""	""
"0000876030"	"00005455"	"90"	"4008"	"0"	"4013"	"0"	"c.4008_4013del"	"r.(?)"	"p.(Glu1337_Tyr1338del)"	"50"	""	""
"0000876031"	"00005455"	"90"	"4014"	"0"	"4014"	"0"	"c.4014T>A"	"r.(?)"	"p.(Tyr1338Ter)"	"50"	""	""
"0000876032"	"00005455"	"90"	"4021"	"0"	"4021"	"0"	"c.4021C>T"	"r.(?)"	"p.(Gln1341Ter)"	"50"	""	""
"0000876033"	"00005455"	"90"	"4051"	"0"	"4051"	"0"	"c.4051C>T"	"r.(?)"	"p.(Gln1351Ter)"	"50"	""	""
"0000876034"	"00005455"	"90"	"4054"	"0"	"4054"	"0"	"c.4054del"	"r.(?)"	"p.(Leu1352Ter)"	"50"	""	""
"0000876035"	"00005455"	"90"	"4104"	"0"	"4104"	"0"	"c.4104C>A"	"r.(?)"	"p.(Tyr1368Ter)"	"50"	""	""
"0000876036"	"00005455"	"90"	"4104"	"0"	"4104"	"0"	"c.4104C>G"	"r.(?)"	"p.(Tyr1368Ter)"	"50"	""	""
"0000876037"	"00005455"	"90"	"4105"	"0"	"4105"	"0"	"c.4105del"	"r.(?)"	"p.(His1369ThrfsTer58)"	"50"	""	""
"0000876038"	"00005455"	"10"	"4113"	"0"	"4113"	"0"	"c.4113G>A"	"r.(?)"	"p.(Lys1371=)"	"50"	""	""
"0000876039"	"00005455"	"90"	"4156"	"0"	"4156"	"0"	"c.4156A>T"	"r.(?)"	"p.(Lys1386Ter)"	"50"	""	""
"0000876040"	"00005455"	"90"	"4229"	"0"	"4237"	"0"	"c.4229_4237del"	"r.(?)"	"p.(Val1410_Val1412del)"	"50"	""	""
"0000876041"	"00005455"	"90"	"4238"	"0"	"4248"	"0"	"c.4238_4248dup"	"r.(?)"	"p.(Ser1417MetfsTer14)"	"50"	""	""
"0000876042"	"00005455"	"90"	"4247"	"0"	"4247"	"0"	"c.4247del"	"r.(?)"	"p.(Thr1416ArgfsTer11)"	"50"	""	""
"0000876043"	"00005455"	"90"	"4248"	"1"	"4248"	"1"	"c.4248+1G>A"	"r.spl"	"p.?"	"50i"	""	""
"0000876044"	"00005455"	"90"	"4243"	"0"	"4248"	"2"	"c.4243_4248+2delinsCA"	"r.spl"	"p.?"	"50_50i"	""	""
"0000876045"	"00005455"	"70"	"4249"	"-26"	"4249"	"-8"	"c.4249-26_4249-8del"	"r.spl"	"p.?"	"50i"	""	""
"0000876046"	"00005455"	"90"	"4249"	"-2"	"4249"	"-2"	"c.4249-2del"	"r.spl"	"p.?"	"50i"	""	""
"0000876047"	"00005455"	"90"	"4249"	"-4"	"4249"	"-2"	"c.4249-4_4249-2del"	"r.spl"	"p.?"	"50i"	""	""
"0000876048"	"00005455"	"90"	"4249"	"-3"	"4249"	"-2"	"c.4249-3_4249-2del"	"r.spl"	"p.?"	"50i"	""	""
"0000876049"	"00005455"	"90"	"4249"	"0"	"4250"	"0"	"c.4249_4250del"	"r.(?)"	"p.(Thr1419ArgfsTer9)"	"51"	""	""
"0000876050"	"00005455"	"30"	"4257"	"0"	"4257"	"0"	"c.4257C>T"	"r.(?)"	"p.(Thr1419=)"	"51"	""	""
"0000876051"	"00005455"	"90"	"4265"	"0"	"4265"	"0"	"c.4265G>A"	"r.(?)"	"p.(Trp1422Ter)"	"51"	""	""
"0000876052"	"00005455"	"10"	"4281"	"0"	"4281"	"0"	"c.4281T>C"	"r.(?)"	"p.(Ile1427=)"	"51"	""	""
"0000876053"	"00005455"	"90"	"4291"	"0"	"4291"	"0"	"c.4291dup"	"r.(?)"	"p.(Thr1431AsnfsTer)"	"51"	""	""
"0000876054"	"00005455"	"50"	"4296"	"0"	"4296"	"0"	"c.4296C>A"	"r.(?)"	"p.(Thr1432=)"	"51"	""	""
"0000876055"	"00005455"	"90"	"4308"	"0"	"4309"	"0"	"c.4308_4309insA"	"r.(?)"	"p.(Leu1437ThrfsTer114)"	"51"	""	""
"0000876056"	"00005455"	"90"	"4332"	"0"	"4332"	"0"	"c.4332dup"	"r.(?)"	"p.(Asp1446GlyfsTer105)"	"51"	""	""
"0000876057"	"00005455"	"90"	"4330"	"0"	"4331"	"0"	"c.4330_4331insAAGGATGTGGCCC"	"r.(?)"	"p.(Pro1444GlnfsTer111)"	"51"	""	""
"0000876058"	"00005455"	"90"	"4327"	"0"	"4333"	"0"	"c.4327_4333delinsCTGGA"	"r.(?)"	"p.(Ala1443LeufsTer107)"	"51"	""	""
"0000876059"	"00005455"	"90"	"4338"	"0"	"4338"	"0"	"c.4338dup"	"r.(?)"	"p.(Val1447ArgfsTer104)"	"51"	""	""
"0000876060"	"00005455"	"90"	"4329"	"0"	"4340"	"0"	"c.4329_4340delinsAGACCAGGTC"	"r.(?)"	"p.(Pro1444AspfsTer106)"	"51"	""	""
"0000876061"	"00005455"	"90"	"4352"	"0"	"4352"	"0"	"c.4352dup"	"r.(?)"	"p.(Asp1451GlufsTer100)"	"51"	""	""
"0000876062"	"00005455"	"90"	"4358"	"0"	"4362"	"0"	"c.4358_4362del"	"r.(?)"	"p.(Glu1453GlyfsTer96)"	"51"	""	""
"0000876063"	"00005455"	"90"	"4331"	"0"	"4365"	"0"	"c.4331_4365del"	"r.(?)"	"p.(Pro1444LeufsTer95)"	"51"	""	""
"0000876064"	"00005455"	"90"	"4339"	"0"	"4364"	"0"	"c.4339_4364del"	"r.(?)"	"p.(Val1447LeufsTer95)"	"51"	""	""
"0000876065"	"00005455"	"90"	"4386"	"0"	"4386"	"0"	"c.4386del"	"r.(?)"	"p.(Phe1463SerfsTer63)"	"51"	""	""
"0000876066"	"00005455"	"10"	"4638"	"0"	"4639"	"0"	"c.*243_*244dup"	"r.(?)"	"p.(=)"	"51"	""	""
"0000876067"	"00005455"	"59"	"104"	"-1"	"2613"	"1"	"c.(103+1_104-1)_(2613+1_2614-1)del"	"r.104_2613del"	"p.0"	"1i_37i"	""	""
"0000876068"	"00005455"	"90"	"751"	"-1"	"1353"	"1"	"c.(750+1_751-1)_(1353+1_1354-1)del"	"r.?"	"p.(Gly251_Pro451del)"	"10i_20i"	""	""
"0000876069"	"00005455"	"90"	"472"	"-1"	"3045"	"1"	"c.(471+1_472-1)_(3045+1_3046-1)del"	"r.?"	"p.(Asn158_Glu1015del)"	"5i_41i"	""	""
"0000876070"	"00005455"	"90"	""	"0"	""	"0"	"c.-126_(3207+1_3208-1){2}"	"r.0?"	"p.0"	"_1_43i"	""	""
"0000876071"	"00005455"	"90"	"2668"	"-1"	"3531"	"1"	"c.(2667+1_2668-1)_(3531+1_3532-1)del"	"r.?"	"p.(Gly890_Val1177del)"	"38i_47i"	""	""
"0000876072"	"00005455"	"90"	""	"0"	""	"0"	"c.-126_*1406{0}"	"r.0"	"p.0"	"_1_51_"	""	""
"0000876073"	"00005455"	"90"	""	"0"	""	"0"	"c.-126_(543+33_544-42){0}"	"r.0?"	"p.0"	"_1_6i"	""	""
"0000877395"	"00005455"	"90"	"1454"	"0"	"1454"	"0"	"c.1454G>C"	"r.(?)"	"p.(Gly485Ala)"	"21"	"missense"	""
"0000877396"	"00005455"	"90"	"653"	"0"	"653"	"0"	"c.653G>T"	"r.(?)"	"p.(Gly218Val)"	"9"	"missense"	""
"0000877397"	"00005455"	"90"	"2285"	"0"	"2285"	"0"	"c.2285del"	"r.(?)"	"p.(Val762Alafs*4)"	"33"	"frameshift"	""
"0000877398"	"00005455"	"90"	"3155"	"0"	"3155"	"0"	"c.3155G>C"	"r.(?)"	"p.(Gly1052Ala)"	"43"	""	""
"0000877399"	"00005455"	"90"	"2334"	"0"	"2334"	"0"	"c.2334del"	"r.(?)"	"p.(Gly779Valfs*329)"	"33"	"frameshift"	""
"0000877400"	"00005455"	"90"	"3814"	"1"	"3814"	"1"	"c.3814+1G>T"	"r.spl?"	"p.?"	""	""	""
"0000877401"	"00005455"	"90"	"1077"	"0"	"1077"	"0"	"c.1077del"	"r.(?)"	"p.(Arg361Glufs*180)"	"17"	"frameshift"	""
"0000877402"	"00005455"	"90"	"813"	"0"	"814"	"0"	"c.813_814del"	"r.(?)"	"p.(Ser271Argfs*15)"	"12"	"frameshift"	""
"0000877403"	"00005455"	"90"	"1516"	"-5"	"1516"	"-5"	"c.1516-5A>G"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000877404"	"00005455"	"90"	"1524"	"0"	"1524"	"0"	"c.1524del"	"r.(?)"	"p.(Gly509Valfs*32)"	"23"	"frameshift"	""
"0000877405"	"00005455"	"90"	"3063"	"0"	"3064"	"0"	"c.3063_3064del"	"r.(?)"	"p.(Gly1022Phefs*13)"	"42"	"frameshift"	""
"0000877406"	"00005455"	"90"	"3633"	"0"	"3633"	"0"	"c.3633dup"	"r.(?)"	"p.(Gly1212Trpfs*8)"	"48"	"frameshift"	""
"0000877407"	"00005455"	"90"	"3627"	"0"	"3627"	"0"	"c.3627del"	"r.(?)"	"p.(His1210Thrfs*29)"	"48"	"frameshift"	""
"0000877408"	"00005455"	"90"	"2482"	"0"	"2482"	"0"	"c.2482G>A"	"r.(?)"	"p.(Glu828Lys)"	"36"	"missense"	""
"0000877409"	"00005455"	"90"	"288"	"0"	"288"	"0"	"c.288dup"	"r.(?)"	"p.(Asp97Argfs*72)"	"2"	"frameshift"	""
"0000877410"	"00005455"	"90"	"751"	"-2"	"751"	"-2"	"c.751-2A>C"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000877411"	"00005455"	"90"	"652"	"0"	"652"	"0"	"c.652G>A"	"r.(?)"	"p.(Gly218Ser)"	"9"	"missense"	""
"0000877412"	"00005455"	"90"	"604"	"0"	"604"	"0"	"c.604C>T"	"r.(?)"	"p.(Gln202*)"	"8"	"nonsense"	""
"0000877413"	"00005455"	"90"	"1408"	"0"	"1408"	"0"	"c.1408G>T"	"r.(?)"	"p.(Gly470*)"	"21"	"nonsense"	""
"0000877414"	"00005455"	"90"	"2829"	"4"	"2829"	"4"	"c.2829+4delA"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000877415"	"00005455"	"90"	"1985"	"0"	"1985"	"0"	"c.1985del"	"r.(?)"	"p.(Gly662Valfs*104)"	"30"	"frameshift"	""
"0000877416"	"00005455"	"90"	"3258"	"0"	"3258"	"0"	"c.3258del"	"r.(?)"	"p.(Ala1087Profs*21)"	"44"	"frameshift"	""
"0000877417"	"00005455"	"90"	"1001"	"0"	"1001"	"0"	"c.1001del"	"r.(?)"	"p.(Pro334Leufs*207)"	"15"	"frameshift"	""
"0000877418"	"00005455"	"90"	"3898"	"0"	"3898"	"0"	"c.3898del"	"r.(?)"	"p.(Val1300Cysfs*31)"	"49"	"frameshift"	""
"0000877419"	"00005455"	"90"	"1922"	"0"	"1922"	"0"	"c.1922del"	"r.(?)"	"p.(Gly641Aspfs*125)"	"28"	"frameshift"	""
"0000877420"	"00005455"	"90"	"3209"	"0"	"3218"	"0"	"c.3209_3218del"	"r.(?)"	"p.(Gly1070Valfs*35)"	"44"	"frameshift"	""
"0000877421"	"00005455"	"90"	"1373"	"0"	"1373"	"0"	"c.1373del"	"r.(?)"	"p.(Gly458Aspfs*83)"	"21"	"frameshift"	""
"0000877422"	"00005455"	"90"	"770"	"0"	"770"	"0"	"c.770G>A"	"r.(?)"	"p.(Gly257Glu)"	"11"	"missense"	""
"0000877423"	"00005455"	"90"	"441"	"0"	"441"	"0"	"c.441dup"	"r.(?)"	"p.(Gly148Argfs*21)"	"5"	"frameshift"	""
"0000877424"	"00005455"	"90"	"1591"	"0"	"1591"	"0"	"c.1591G>A"	"r.(?)"	"p.(Glu531Lys)"	"23"	"missense"	""
"0000877425"	"00005455"	"90"	"387"	"0"	"387"	"0"	"c.387del"	"r.(?)"	"p.(Gly130Alafs*135)"	""	"frameshift"	""
"0000877426"	"00005455"	"90"	"495"	"0"	"495"	"0"	"c.495T>G"	"r.(?)"	"p.(Tyr165*)"	""	"nonsense"	""
"0000877427"	"00005455"	"90"	"1615"	"-2"	"1615"	"-2"	"c.1615-2A>T"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000877428"	"00005455"	"90"	"2347"	"0"	"2347"	"0"	"c.2347G>T"	"r.(?)"	"p.(Glu783*)"	""	"nonsense"	""
"0000877429"	"00005455"	"90"	"2451"	"2"	"2451"	"2"	"c.2451+2T>G"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000877430"	"00005455"	"90"	"2574"	"0"	"2574"	"0"	"c.2574del"	"r.(?)"	"p.(Pro859Leufs*249)"	""	"frameshift"	""
"0000877431"	"00005455"	"90"	"2715"	"0"	"2716"	"0"	"c.2715_2716dup"	"r.(?)"	"p.(Gly906Alafs*203)"	""	"frameshift"	""
"0000877432"	"00005455"	"90"	"3112"	"0"	"3112"	"0"	"c.3112del"	"r.(?)"	"p.(Glu1038Argfs*70)"	""	"frameshift"	""
"0000877433"	"00005455"	"90"	"3262"	"-2"	"3262"	"-2"	"c.3262-2A>G"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000877434"	"00005455"	"90"	"3904"	"0"	"3904"	"0"	"c.3904C>T"	"r.(?)"	"p.(Pro1302Ser)"	""	"missense"	""
"0000878055"	"00005455"	"70"	"326"	"0"	"326"	"0"	"c.326G>A"	"r.(?)"	"p.(Gly109Asp)"	"3"	""	""
"0000878056"	"00005455"	"70"	"581"	"0"	"581"	"0"	"c.581G>C"	"r.(?)"	"p.(Gly194Ala)"	"7"	""	""
"0000878069"	"00005455"	"70"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Gly224Ser)"	"9"	""	""
"0000878098"	"00005455"	"70"	"334"	"0"	"334"	"0"	"c.334G>A"	"r.(?)"	"p.(Gly112Arg)"	"4"	""	""
"0000878107"	"00005455"	"50"	"125"	"0"	"125"	"0"	"c.125A>G"	"r.(?)"	"p.(Gln42Arg)"	"2"	""	""
"0000878117"	"00005455"	"70"	"1177"	"0"	"1177"	"0"	"c.1177C>T"	"r.(?)"	"p.(Gln393Ter)"	"18"	""	""
"0000878124"	"00005455"	"70"	"3082"	"0"	"3082"	"0"	"c.3082G>A"	"r.(?)"	"p.(Gly1028Ser)"	"42"	""	""
"0000878127"	"00005455"	"90"	"614"	"0"	"614"	"0"	"c.614dup"	"r.(?)"	"p.(Gly206TrpfsTer2)"	"8"	""	""
"0000878129"	"00005455"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026Ter)"	"42"	""	""
"0000878132"	"00005455"	"50"	"965"	"0"	"965"	"0"	"c.965G>A"	"r.(?)"	"p.(Arg322His)"	"15"	""	""
"0000878133"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	""	""
"0000878135"	"00005455"	"50"	"3827"	"0"	"3827"	"0"	"c.3827T>C"	"r.(?)"	"p.(Ile1276Thr)"	"49"	""	""
"0000878137"	"00005455"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220Ter)"	"9"	""	""
"0000878149"	"00005455"	"70"	"1056"	"2"	"1056"	"2"	"c.1056+2T>C"	"r.spl"	"p.?"	"16i"	""	""
"0000878150"	"00005455"	"90"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"36"	""	""
"0000878161"	"00005455"	"50"	"2668"	"-1"	"2668"	"-1"	"c.2668-1G>T"	"r.spl"	"p.?"	"39i"	""	""
"0000878167"	"00005455"	"90"	"1369"	"0"	"1369"	"0"	"c.1369C>T"	"r.(?)"	"p.(Gln457Ter)"	"21"	""	""
"0000878170"	"00005455"	"50"	"790"	"0"	"790"	"0"	"c.790A>T"	"r.(?)"	"p.(Met264Leu)"	"11"	""	""
"0000878173"	"00005455"	"50"	"103"	"3"	"103"	"6"	"c.103+3_103+6del"	"r.spl?"	"p.?"	"1i"	""	""
"0000878175"	"00005455"	"90"	"2182"	"0"	"2182"	"0"	"c.2182G>T"	"r.(?)"	"p.(Gly728Ter)"	"32"	""	""
"0000878179"	"00005455"	"90"	"1414"	"0"	"1414"	"0"	"c.1414C>T"	"r.(?)"	"p.(Arg472Ter)"	"21"	""	""
"0000878182"	"00005455"	"50"	"1516"	"-5"	"1516"	"-5"	"c.1516-5A>G"	"r.spl?"	"p.?"	""	""	""
"0000878189"	"00005455"	"70"	"730"	"0"	"730"	"0"	"c.730C>T"	"r.(?)"	"p.(Arg244Cys)"	"10"	""	""
"0000878190"	"00005455"	"90"	"1461"	"1"	"1461"	"1"	"c.1461+1G>T"	"r.spl"	"p.?"	"21i"	""	""
"0000878193"	"00005455"	"70"	"589"	"0"	"589"	"0"	"c.589G>A"	"r.(?)"	"p.(Gly197Ser)"	"8"	""	""
"0000878197"	"00005455"	"50"	"4067"	"0"	"4067"	"0"	"c.4067G>A"	"r.(?)"	"p.(Arg1356His)"	"50"	""	""
"0000878205"	"00005455"	"90"	"386"	"0"	"386"	"0"	"c.386dup"	"r.(?)"	"p.(Gly130TrpfsTer39)"	"5"	""	""
"0000878209"	"00005455"	"50"	"359"	"0"	"359"	"0"	"c.359G>A"	"r.(?)"	"p.(Arg120Gln)"	"4"	""	""
"0000879995"	"00005455"	"90"	"1770"	"0"	"1770"	"0"	"c.1770del"	"r.(?)"	"p.(Glu591Serfs*175)"	""	""	""
"0000881159"	"00005455"	"90"	"2523"	"0"	"2523"	"0"	"c.2523del"	"r.(?)"	"p.(Gly842AlafsTer266)"	""	""	""
"0000881160"	"00005455"	"90"	"3494"	"0"	"3494"	"0"	"c.3494del"	"r.(?)"	"p.(Pro1165LeufsTer74)"	""	""	""
"0000881161"	"00005455"	"90"	"3567"	"0"	"3567"	"0"	"c.3567del"	"r.(?)"	"p.(Gly1190ValfsTer49)"	""	""	""
"0000881273"	"00005455"	"90"	"1920"	"0"	"1920"	"0"	"c.1920del"	"r.(?)"	"p.(Gly641AspfsTer125)"	""	""	""
"0000894004"	"00005455"	"30"	"4257"	"0"	"4257"	"0"	"c.4257C>T"	"r.(?)"	"p.(Thr1419=)"	""	""	""
"0000894005"	"00005455"	"10"	"4257"	"0"	"4257"	"0"	"c.4257C>T"	"r.(?)"	"p.(Thr1419=)"	""	""	""
"0000894006"	"00005455"	"10"	"4249"	"-12"	"4249"	"-12"	"c.4249-12G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000894007"	"00005455"	"90"	"3807"	"0"	"3807"	"0"	"c.3807del"	"r.(?)"	"p.(Trp1269*)"	""	""	""
"0000894008"	"00005455"	"10"	"3261"	"31"	"3261"	"31"	"c.3261+31T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000894009"	"00005455"	"30"	"3102"	"0"	"3102"	"0"	"c.3102T>C"	"r.(?)"	"p.(Gly1034=)"	""	""	""
"0000894010"	"00005455"	"30"	"3093"	"0"	"3093"	"0"	"c.3093C>T"	"r.(?)"	"p.(Gly1031=)"	""	""	""
"0000894011"	"00005455"	"70"	"3040"	"0"	"3040"	"0"	"c.3040C>T"	"r.(?)"	"p.(Arg1014Cys)"	""	""	""
"0000894012"	"00005455"	"10"	"2830"	"-33"	"2830"	"-33"	"c.2830-33C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000894013"	"00005455"	"90"	"2651"	"0"	"2651"	"0"	"c.2651G>T"	"r.(?)"	"p.(Gly884Val)"	""	""	""
"0000894014"	"00005455"	"10"	"2613"	"10"	"2613"	"10"	"c.2613+10A>C"	"r.(=)"	"p.(=)"	""	""	""
"0000894015"	"00005455"	"10"	"2560"	"-18"	"2560"	"-18"	"c.2560-18C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000894016"	"00005455"	"90"	"2533"	"0"	"2533"	"0"	"c.2533G>A"	"r.(?)"	"p.(Gly845Arg)"	""	""	""
"0000894017"	"00005455"	"90"	"2451"	"1"	"2451"	"1"	"c.2451+1G>C"	"r.spl?"	"p.?"	""	""	""
"0000894018"	"00005455"	"90"	"2416"	"0"	"2416"	"0"	"c.2416G>A"	"r.(?)"	"p.(Gly806Ser)"	""	""	""
"0000894019"	"00005455"	"10"	"2028"	"39"	"2028"	"39"	"c.2028+39C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000894020"	"00005455"	"50"	"2005"	"0"	"2005"	"0"	"c.2005G>A"	"r.(?)"	"p.(Ala669Thr)"	""	""	""
"0000894021"	"00005455"	"10"	"1984"	"-41"	"1984"	"-41"	"c.1984-41G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000894022"	"00005455"	"10"	"1876"	"-44"	"1876"	"-44"	"c.1876-44C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000894023"	"00005455"	"10"	"1669"	"-31"	"1669"	"-31"	"c.1669-31T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000894024"	"00005455"	"10"	"1461"	"27"	"1461"	"27"	"c.1461+27G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000894025"	"00005455"	"30"	"1156"	"-18"	"1156"	"-18"	"c.1156-18C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000894026"	"00005455"	"10"	"859"	"-14"	"859"	"-14"	"c.859-14T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000894027"	"00005455"	"30"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	""	""	""
"0000894028"	"00005455"	"10"	"588"	"33"	"588"	"33"	"c.588+33T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000894029"	"00005455"	"90"	"513"	"0"	"514"	"0"	"c.513_514insT"	"r.(?)"	"p.(Thr172Tyrfs*36)"	""	""	""
"0000894030"	"00005455"	"10"	"299"	"-20"	"299"	"-20"	"c.299-20C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000894031"	"00005455"	"30"	"183"	"0"	"183"	"0"	"c.183C>T"	"r.(?)"	"p.(Cys61=)"	""	""	""
"0000894032"	"00005455"	"30"	"168"	"0"	"168"	"0"	"c.168G>A"	"r.(?)"	"p.(Glu56=)"	""	""	""
"0000894033"	"00005455"	"50"	"131"	"0"	"131"	"0"	"c.131G>A"	"r.(?)"	"p.(Gly44Asp)"	""	""	""
"0000900518"	"00005455"	"50"	"2830"	"-50"	"2830"	"-50"	"c.2830-50G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000904121"	"00005455"	"50"	"4005"	"5"	"4005"	"5"	"c.4005+5G>A"	"r.(?)"	"p.(?)"	""	""	""
"0000908424"	"00005455"	"90"	"4065"	"0"	"4065"	"0"	"c.4065del"	"r.(?)"	"p.(Arg1356AlafsTer2)"	""	""	""
"0000908571"	"00005455"	"99"	"2174"	"0"	"2174"	"0"	"c.2174G>T"	"r.(2174g>u)"	"p.(Gly725Val)"	"32"	"missense"	"Gly547Val"
"0000908636"	"00005455"	"70"	"141"	"0"	"141"	"0"	"c.141C>G"	"r.(?)"	"p.(Tyr47Ter)"	"2"	""	""
"0000908637"	"00005455"	"90"	"299"	"0"	"300"	"0"	"c.299_300del"	"r.(?)"	"p.(Glu100ValfsTer68)"	"3"	""	""
"0000908638"	"00005455"	"90"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194ValfsTer71)"	"7"	""	""
"0000908639"	"00005455"	"90"	"578"	"0"	"578"	"0"	"c.578dup"	"r.(?)"	"p.(Gly194TrpfsTer14)"	"7"	""	""
"0000908640"	"00005455"	"70"	"642"	"1"	"642"	"1"	"c.642+1G>A"	"r.spl"	"p.?"	"8i"	""	""
"0000908641"	"00005455"	"90"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253Ter)"	"11"	""	""
"0000908642"	"00005455"	"90"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253Ter)"	"11"	""	""
"0000908643"	"00005455"	"70"	"806"	"0"	"806"	"0"	"c.806G>C"	"r.(?)"	"p.(Gly269Ala)"	"12"	""	""
"0000908644"	"00005455"	"90"	"1121"	"0"	"1121"	"0"	"c.1121G>C "	"r.(?)"	"p.(Gly374Ala)"	"17"	""	""
"0000908645"	"00005455"	"70"	"1201"	"0"	"1201"	"0"	"c.1201G>T "	"r.(?)"	"p.(Gly401Cys)"	"19"	""	""
"0000908646"	"00005455"	"90"	"1405"	"0"	"1405"	"0"	"c.1405C>T"	"r.(?)"	"p.(Arg469Ter)"	"21"	""	""
"0000908647"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	""	""
"0000908648"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	"23"	""	""
"0000908649"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>A "	"r.(?)"	"p.(Gly530Ser)"	"23"	""	""
"0000908650"	"00005455"	"90"	"1614"	"1"	"1614"	"1"	"c.1614+1G>A"	"r.spl"	"p.?"	"23i"	""	""
"0000908651"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>A "	"r.spl"	"p.?"	"26i"	""	""
"0000908652"	"00005455"	"70"	"1983"	"1"	"1983"	"1"	"c.1983+1G>A"	"r.spl"	"p.?"	"29i"	""	""
"0000908653"	"00005455"	"90"	"2089"	"0"	"2089"	"0"	"c.2089C>T"	"r.(?)"	"p.(Arg697Ter)"	"31"	""	""
"0000908654"	"00005455"	"90"	"2155"	"0"	"2155"	"0"	"c.2155G>A "	"r.(?)"	"p.(Gly719Ser)"	"32"	""	""
"0000908655"	"00005455"	"90"	"2155"	"0"	"2155"	"0"	"c.2155G>A"	"r.(?)"	"p.(Gly719Ser)"	"32"	""	""
"0000908656"	"00005455"	"50"	"2235"	"5"	"2235"	"5"	"c.2235+5G>C "	"r.spl"	"p.(Gly746fs)"	"32i"	""	""
"0000908657"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A:"	"r.(?)"	"p.(Gly767Ser)"	"33"	""	""
"0000908658"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	"33"	""	""
"0000908659"	"00005455"	"90"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	"36"	""	""
"0000908660"	"00005455"	"70"	"2483"	"0"	"2485"	"0"	"c.2483_2485delinsG"	"r.(?)"	"p.(Glu828GlyfsTer3)"	"36"	""	""
"0000908661"	"00005455"	"50"	"2559"	"5"	"2559"	"5"	"c.2559+5G>T"	"r.spl"	"p.?"	"36i"	""	""
"0000908662"	"00005455"	"90"	"2596"	"0"	"2596"	"0"	"c.2596G>A"	"r.(?)"	"p.(Gly866Ser)"	"37"	""	""
"0000908663"	"00005455"	"90"	"2644"	"0"	"2644"	"0"	"c.2644C>T "	"r.(?)"	"p.(Arg882Ter)"	"38"	""	""
"0000908664"	"00005455"	"70"	"2783"	"0"	"2783"	"0"	"c.2783del"	"r.(?)"	"p.(Pro928LeufsTer180)"	"39"	""	""
"0000908665"	"00005455"	"70"	"2938"	"-1"	"2938"	"-1"	"c.2938-1G>A"	"r.spl"	"p.?"	"40i"	""	""
"0000908666"	"00005455"	"90"	"2991"	"0"	"2991"	"0"	"c.2991delT"	"r.(?)"	"p.(Gly998ValfsTer110)"	"41"	""	""
"0000908667"	"00005455"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026Ter)"	"42"	""	""
"0000908668"	"00005455"	"70"	"3082"	"0"	"3082"	"0"	"c.3082G>A"	"r.(?)"	"p.(Gly1028Ser)"	"42"	""	""
"0000908669"	"00005455"	"70"	"3119"	"0"	"3119"	"0"	"c.3119G>C"	"r.(?)"	"p.(Gly1040Ala)"	"43"	""	""
"0000908670"	"00005455"	"70"	"3164"	"0"	"3164"	"0"	"c.3164dup "	"r.(?)"	"p.(Val1057ArgfsTer9)"	"3"	""	""
"0000908671"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"44"	""	""
"0000908672"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"44"	""	""
"0000908673"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"44"	""	""
"0000908674"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	"44"	""	""
"0000908675"	"00005455"	"90"	"3360"	"0"	"3360"	"0"	"c.3360del"	"r.(?)"	"p.(Gly1121AlafsTer118)"	"45"	""	""
"0000908676"	"00005455"	"90"	"3268"	"0"	"3268"	"0"	"c.3268C>T"	"r.(?)"	"p.(Gln1090Ter)"	"45"	""	""
"0000908677"	"00005455"	"70"	"3533"	"0"	"3533"	"0"	"c.3533G>C"	"r.(?)"	"p.(Gly1178Ala)"	"48"	""	""
"0000908678"	"00005455"	"70"	"3664"	"0"	"3664"	"0"	"c.3664A>G"	"r.(?)"	"p.(Asn1222Asp)"	"48"	""	""
"0000908679"	"00005455"	"70"	"3880"	"0"	"3880"	"0"	"c.3880dup"	"r.(?)"	"p.(Glu1294GlyfsTer4)"	"49"	""	""
"0000908680"	"00005455"	"70"	"3893"	"0"	"3893"	"0"	"c.3893C>T"	"r.(?)"	"p.(Thr1298Ile)"	"49"	""	""
"0000908681"	"00005455"	"70"	"3994"	"0"	"3994"	"0"	"c.3994del"	"r.(?)"	"p.(Asp1332MetfsTer21)"	"49"	""	""
"0000908682"	"00005455"	"70"	"3857"	"0"	"3857"	"0"	"c.3857C>A"	"r.(?)"	"p.(Ala1286Asp)"	"49"	""	""
"0000908683"	"00005455"	"70"	"4183"	"0"	"4183"	"0"	"c.4183G>T "	"r.(?)"	"p.(Glu1395Ter)"	"50"	""	""
"0000908684"	"00005455"	"90"	"4321"	"0"	"4321"	"0"	"c.4321G>T"	"r.(?)"	"p.(Asp1441Tyr)"	"51"	""	""
"0000908685"	"00005455"	"70"	"4352"	"0"	"4356"	"0"	"c.4352_4356del"	"r.(?)"	"p.(Asp1451GlyfsTer98)"	"51"	""	""
"0000908959"	"00005455"	"70"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.(?)"	"p.(Gly224Asp)"	"9"	"missense"	"Gly46Asp"
"0000909971"	"00005455"	"99"	"2319"	"0"	"2320"	"0"	"c.2319_2320insAC"	"r.(?)"	"p.(Pro774ThrfsTer335)"	""	"insertion"	""
"0000914880"	"00005455"	"30"	"3815"	"-12"	"3815"	"-12"	"c.3815-12G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000914881"	"00005455"	"10"	"3223"	"0"	"3223"	"0"	"c.3223="	"r.(=)"	"p.(Ala1075=)"	""	""	""
"0000914882"	"00005455"	"90"	"2704"	"0"	"2704"	"0"	"c.2704G>A"	"r.(?)"	"p.(Gly902Ser)"	""	""	""
"0000914883"	"00005455"	"90"	"1812"	"0"	"1812"	"0"	"c.1812del"	"r.(?)"	"p.(Gly605Alafs*161)"	""	""	""
"0000914884"	"00005455"	"90"	"1696"	"0"	"1696"	"0"	"c.1696G>T"	"r.(?)"	"p.(Gly566*)"	""	""	""
"0000914885"	"00005455"	"30"	"1300"	"-7"	"1300"	"-7"	"c.1300-7C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000914886"	"00005455"	"50"	"740"	"0"	"740"	"0"	"c.740C>T"	"r.(?)"	"p.(Pro247Leu)"	""	""	""
"0000914887"	"00005455"	"50"	"447"	"0"	"455"	"0"	"c.447_455dup"	"r.(?)"	"p.(Pro152_Gly154dup)"	""	""	""
"0000914888"	"00005455"	"90"	"418"	"0"	"418"	"0"	"c.418del"	"r.(?)"	"p.(Leu140Phefs*125)"	""	""	""
"0000914889"	"00005455"	"50"	"34"	"0"	"34"	"0"	"c.34C>T"	"r.(?)"	"p.(Leu12Phe)"	""	""	""
"0000916981"	"00005455"	"90"	"2050"	"0"	"2050"	"0"	"c.2050G>A"	"r.(?)"	"p.(Glu684Lys)"	"31"	"missense"	"Glu506Lys"
"0000918096"	"00005455"	"99"	"3235"	"0"	"3235"	"0"	"c.3235G>A"	"r.(?)"	"p.(Gly1079Ser)"	""	"missense"	"Gly901Ser"
"0000918097"	"00005455"	"71"	"2451"	"0"	"2451"	"0"	"c.2451T>C"	"r.(=)"	"p.(=)"	""	"silent"	"Pro639="
"0000918098"	"00005455"	"75"	"517"	"0"	"517"	"0"	"c.517G>A"	"r.(?)"	"p.(Gly173Arg)"	""	"missense"	""
"0000918099"	"00005455"	"33"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>A"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000918348"	"00005455"	"70"	"1706"	"0"	"1706"	"0"	"c.1706G>C"	"r.(?)"	"p.(Gly569Ala)"	"45"	"missense"	""
"0000918349"	"00005455"	"70"	"3307"	"0"	"3307"	"0"	"c.3307G>A"	"r.(?)"	"p.(Gly1103Ser)"	"25"	"missense"	""
"0000918410"	"00005455"	"70"	"3814"	"1"	"3814"	"1"	"c.3814+1G>T"	"r.spl?"	"p.?"	""	"splicing affected"	""
"0000918448"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl?"	"p.?"	""	"splicing affected, exon skipped"	""
"0000918575"	"00005455"	"90"	"4183"	"0"	"4183"	"0"	"c.4183G>T"	"r.(?)"	"p.(Glu1395*)"	""	""	""
"0000918579"	"00005455"	"90"	"3961"	"0"	"3961"	"0"	"c.3961A>T"	"r.(?)"	"p.(Lys1321*)"	""	""	""
"0000918585"	"00005455"	"90"	"2483"	"0"	"2485"	"0"	"c.2483_2485delinsG"	"r.(?)"	"p.(Glu828Glyfs*3)"	""	""	""
"0000918590"	"00005455"	"90"	"3268"	"0"	"3268"	"0"	"c.3268C>T"	"r.(?)"	"p.(Gln1090*)"	""	""	""
"0000918593"	"00005455"	"90"	"1983"	"1"	"1983"	"1"	"c.1983+1G>A"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000918594"	"00005455"	"90"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.(=)"	"p.(=)"	""	"splicing affected?"	""
"0000918595"	"00005455"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Arg50*)"	""	""	""
"0000918596"	"00005455"	"90"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.(=)"	"p.(=)"	""	"splicing affected?"	""
"0000918598"	"00005455"	"90"	"2559"	"5"	"2559"	"5"	"c.2559+5G>T"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000918600"	"00005455"	"90"	"2559"	"5"	"2559"	"5"	"c.2559+5G>T"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000918844"	"00005455"	"90"	"1814"	"0"	"1814"	"0"	"c.1814G>C"	"r.(?)"	"p.(Gly605Ala)"	""	"missense"	""
"0000918859"	"00005455"	"30"	"3531"	"4"	"3531"	"4"	"c.3531+4T>C"	"r.spl?"	"p.?"	"47i"	""	""
"0000918883"	"00005455"	"70"	"1353"	"2"	"1353"	"2"	"c.1353+2T>G"	"r.(?)"	"p.?"	"20i"	""	""
"0000918884"	"00005455"	"90"	"1608"	"0"	"1608"	"0"	"c.1608del"	"r.(?)"	"p.(Ala537ProfsTer4)"	"23"	""	""
"0000918885"	"00005455"	"70"	"4258"	"0"	"4258"	"0"	"c.4258G>A"	"r.(?)"	"p.(Gly1420Arg)"	"51"	""	""
"0000918887"	"00005455"	"90"	"1804"	"0"	"1805"	"0"	"c.1804_1805delinsCGT"	"r.(?)"	"p.(Gly602ArgfsTer32)"	"26"	""	""
"0000918889"	"00005455"	"90"	"441"	"0"	"441"	"0"	"c.441del"	"r.(?)"	"p.(Gly148AspfsTer117)"	"5"	""	""
"0000918908"	"00005455"	"70"	"2343"	"1"	"2343"	"1"	"c.2343+1G>A"	"r.spl"	"p.?"	"33i"	""	""
"0000918919"	"00005455"	"90"	"733"	"0"	"733"	"0"	"c.733G>T"	"r.(?)"	"p.(Gly245Trp)"	"10"	"missense"	""
"0000919283"	"00005455"	"90"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Gly560Ser)"	""	"missense"	""
"0000919284"	"00005455"	"90"	"2101"	"0"	"2101"	"0"	"c.2101G>A"	"r.(?)"	"p.(Gly701Ser)"	""	"missense"	""
"0000919290"	"00005455"	"90"	"358"	"0"	"358"	"0"	"c.358C>T"	"r.(?)"	"p.(Arg120*)"	""	"nonsense"	""
"0000919291"	"00005455"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	""	"nonsense"	""
"0000919292"	"00005455"	"90"	"858"	"1"	"858"	"1"	"c.858+1G>A"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000919293"	"00005455"	"90"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Gly323*)"	""	"nonsense"	""
"0000919294"	"00005455"	"90"	"967"	"0"	"967"	"0"	"c.967G>T"	"r.(?)"	"p.(Gly323*)"	""	"nonsense"	""
"0000919295"	"00005455"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	""	"nonsense"	""
"0000919296"	"00005455"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361*)"	""	"nonsense"	""
"0000919297"	"00005455"	"90"	"1243"	"0"	"1243"	"0"	"c.1243C>T"	"r.(?)"	"p.(Arg415*)"	""	"nonsense"	""
"0000919298"	"00005455"	"90"	"2461"	"0"	"2461"	"0"	"c.2461G>A"	"r.(?)"	"p.(Gly821Ser)"	""	"missense"	""
"0000919299"	"00005455"	"90"	"2569"	"0"	"2569"	"0"	"c.2569G>T"	"r.(?)"	"p.(Gly857Cys)"	""	"missense"	""
"0000919300"	"00005455"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	""	"nonsense"	""
"0000919301"	"00005455"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026*)"	""	"nonsense"	""
"0000919454"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>C"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000919455"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>C"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000919456"	"00005455"	"90"	"1821"	"1"	"1821"	"1"	"c.1821+1G>C"	"r.spl?"	"p.?"	""	"splicing affected?"	""
"0000919570"	"00005455"	"90"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.?"	""	""	""
"0000919571"	"00005455"	"90"	"1354"	"-12"	"1354"	"-12"	"c.1354-12G>A"	"r.spl"	"p.?"	""	""	""
"0000919572"	"00005455"	"90"	"0"	"0"	"0"	"0"	"c.-126_*1406{0}"	"r.0"	"p.0"	"_1_51_"	""	""
"0000919573"	"00005455"	"90"	"2344"	"-1"	"2344"	"-1"	"c.2344-1G>A"	"r.spl"	"p.?"	"33i"	""	""
"0000919574"	"00005455"	"90"	"407"	"0"	"407"	"0"	"c.407dup"	"r.(?)"	"p.(Gln137Thrfs*32)"	""	""	""
"0000919575"	"00005455"	"90"	"2444"	"0"	"2444"	"0"	"c.2444del"	"r.(?)"	"p.(Gly815Alafs*293)"	""	""	""
"0000919576"	"00005455"	"90"	"3792"	"0"	"3792"	"0"	"c.3792del"	"r.(?)"	"p.(Met1264Ilefs*67)"	""	""	""
"0000919629"	"00005455"	"90"	"2344"	"-1"	"2344"	"-1"	"c.2344-1G>A"	"r.spl?"	"p.?"	"33i"	"splicing affected"	""
"0000919630"	"00005455"	"90"	"2344"	"-1"	"2344"	"-1"	"c.2344-1G>A"	"r.spl?"	"p.?"	"33i"	"splicing affected?"	""
"0000919663"	"00005455"	"90"	"375"	"0"	"375"	"0"	"c.375dup"	"r.(?)"	"p.(Ala126Argfs*43)"	""	""	""
"0000919664"	"00005455"	"90"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	""	""	""
"0000920140"	"00005455"	"90"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	""	"deletion"	""
"0000920179"	"00005455"	"90"	"3209"	"0"	"3209"	"0"	"c.3209G>T"	"r.(?)"	"p.(Gly1070Val)"	""	""	""
"0000920662"	"00005455"	"90"	"3910"	"0"	"3910"	"0"	"c.3910C>T"	"r.(?)"	"p.(Gln1304Ter)"	""	""	""
"0000920716"	"00005455"	"90"	"4321"	"0"	"4321"	"0"	"c.4321G>C"	"r.(?)"	"p.(Asp1441His)"	""	""	""
"0000920795"	"00005455"	"97"	"3557"	"0"	"3557"	"0"	"c.3557C>T"	"r.(?)"	"p.(Pro1186Leu)"	""	"missense"	""
"0000920796"	"00005455"	"97"	"3557"	"0"	"3557"	"0"	"c.3557C>T"	"r.(?)"	"p.(Pro1186Leu)"	""	"missense"	""
"0000921080"	"00005455"	"99"	"2300"	"0"	"2300"	"0"	"c.2300G>T"	"r.(?)"	"p.(Gly767Val)"	""	"missense"	""
"0000921611"	"00005455"	"99"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194Valfs*71)"	""	"frameshift"	""
"0000921613"	"00005455"	"99"	"2869"	"0"	"2869"	"0"	"c.2869C>T"	"r.(?)"	"p.(Gln957*)"	""	"nonsense"	""
"0000921615"	"00005455"	"99"	"2869"	"0"	"2869"	"0"	"c.2869C>T"	"r.(?)"	"p.(Gln957*)"	""	"nonsense"	""
"0000922759"	"00005455"	"90"	"175"	"0"	"175"	"0"	"c.175C>T"	"r.(?)"	"p.(Arg59Trp)"	""	"missense"	""
"0000922760"	"00005455"	"90"	"187"	"0"	"187"	"0"	"c.187T>A"	"r.(?)"	"p.(Cys63Ser)"	""	"missense"	""
"0000926529"	"00005455"	"10"	"4257"	"0"	"4257"	"0"	"c.4257C>T"	"r.(?)"	"p.(Thr1419=)"	""	""	""
"0000926530"	"00005455"	"30"	"3993"	"0"	"3993"	"0"	"c.3993C>T"	"r.(?)"	"p.(Thr1331=)"	""	""	""
"0000926531"	"00005455"	"30"	"3897"	"0"	"3897"	"0"	"c.3897C>T"	"r.(?)"	"p.(Cys1299=)"	""	""	""
"0000926532"	"00005455"	"30"	"3208"	"-21"	"3208"	"-21"	"c.3208-21T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000926533"	"00005455"	"30"	"3100"	"-15"	"3100"	"-15"	"c.3100-15T>C"	"r.(=)"	"p.(=)"	""	""	""
"0000926534"	"00005455"	"30"	"2463"	"0"	"2463"	"0"	"c.2463C>A"	"r.(?)"	"p.(Gly821=)"	""	""	""
"0000926535"	"00005455"	"30"	"2424"	"0"	"2424"	"0"	"c.2424C>T"	"r.(?)"	"p.(Pro808=)"	""	""	""
"0000926536"	"00005455"	"30"	"2397"	"43"	"2397"	"43"	"c.2397+43C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000926537"	"00005455"	"50"	"2168"	"0"	"2168"	"0"	"c.2168C>T"	"r.(?)"	"p.(Ala723Val)"	""	""	""
"0000926538"	"00005455"	"30"	"1984"	"-5"	"1984"	"-5"	"c.1984-5C>T"	"r.spl?"	"p.?"	""	""	""
"0000926539"	"00005455"	"90"	"1903"	"0"	"1903"	"0"	"c.1903G>A"	"r.(?)"	"p.(Gly635Ser)"	""	""	""
"0000926540"	"00005455"	"90"	"1767"	"1"	"1767"	"1"	"c.1767+1G>A"	"r.spl?"	"p.?"	""	""	""
"0000926541"	"00005455"	"50"	"1691"	"0"	"1691"	"0"	"c.1691G>A"	"r.(?)"	"p.(Arg564His)"	""	""	""
"0000926542"	"00005455"	"10"	"1615"	"-4"	"1615"	"-4"	"c.1615-4C>A"	"r.spl?"	"p.?"	""	""	""
"0000926543"	"00005455"	"30"	"1516"	"-15"	"1516"	"-15"	"c.1516-15A>T"	"r.(=)"	"p.(=)"	""	""	""
"0000926544"	"00005455"	"30"	"1425"	"0"	"1425"	"0"	"c.1425C>T"	"r.(?)"	"p.(Pro475=)"	""	""	""
"0000926545"	"00005455"	"30"	"1354"	"-8"	"1354"	"-8"	"c.1354-8del"	"r.(=)"	"p.(=)"	""	""	""
"0000926546"	"00005455"	"30"	"945"	"0"	"945"	"0"	"c.945C>T"	"r.(?)"	"p.(Ala315=)"	""	""	""
"0000926547"	"00005455"	"30"	"528"	"0"	"528"	"0"	"c.528C>T"	"r.(?)"	"p.(Ser176=)"	""	""	""
"0000926548"	"00005455"	"30"	"516"	"0"	"516"	"0"	"c.516C>T"	"r.(?)"	"p.(Thr172=)"	""	""	""
"0000926549"	"00005455"	"30"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	""	""	""
"0000927466"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	""	"missense"	""
"0000927467"	"00005455"	"90"	"1039"	"0"	"1039"	"0"	"c.1039G>T"	"r.(?)"	"p.(Gly347Cys)"	""	"missense"	""
"0000927468"	"00005455"	"90"	"2498"	"0"	"2498"	"0"	"c.2498G>T"	"r.(?)"	"p.(Gly833Val)"	""	"missense"	""
"0000927469"	"00005455"	"90"	"3496"	"0"	"3496"	"0"	"c.3496G>T"	"r.(?)"	"p.(Gly1166Cys)"	""	"missense"	""
"0000927579"	"00005455"	"30"	"133"	"0"	"133"	"0"	"c.133C>G"	"r.(?)"	"p.(Leu45Val)"	"2"	"missense"	""
"0000930808"	"00005455"	"30"	"3766"	"0"	"3766"	"0"	"c.3766G>A"	"r.(?)"	"p.(Ala1256Thr)"	""	""	""
"0000930809"	"00005455"	"30"	"3424"	"-6"	"3424"	"-6"	"c.3424-6C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000930810"	"00005455"	"30"	"2661"	"0"	"2661"	"0"	"c.2661C>A"	"r.(?)"	"p.(=)"	""	""	""
"0000930811"	"00005455"	"30"	"2259"	"0"	"2259"	"0"	"c.2259T>C"	"r.(?)"	"p.(=)"	""	""	""
"0000930812"	"00005455"	"30"	"1516"	"-25"	"1516"	"-25"	"c.1516-25T>A"	"r.(=)"	"p.(=)"	""	""	""
"0000930813"	"00005455"	"30"	"1249"	"0"	"1249"	"0"	"c.1249C>G"	"r.(?)"	"p.(Pro417Ala)"	""	""	""
"0000930814"	"00005455"	"30"	"999"	"0"	"999"	"0"	"c.999C>T"	"r.(?)"	"p.(Pro333=)"	""	""	""
"0000936737"	"00005455"	"90"	"2956"	"0"	"2956"	"0"	"c.2956G>A"	"r.(?)"	"p.(Gly986Ser)"	""	""	""
"0000950940"	"00005455"	"90"	"3225"	"0"	"3225"	"0"	"c.3225del"	"r.(?)"	"p.(Gly1076Valfs*32)"	""	""	""
"0000950941"	"00005455"	"10"	"3123"	"0"	"3123"	"0"	"c.3123C>T"	"r.(?)"	"p.(Pro1041=)"	""	""	""
"0000950942"	"00005455"	"30"	"3102"	"0"	"3102"	"0"	"c.3102T>C"	"r.(?)"	"p.(Gly1034=)"	""	""	""
"0000950943"	"00005455"	"30"	"2595"	"0"	"2595"	"0"	"c.2595C>T"	"r.(?)"	"p.(Arg865=)"	""	""	""
"0000950944"	"00005455"	"30"	"2559"	"17"	"2559"	"17"	"c.2559+17T>G"	"r.(=)"	"p.(=)"	""	""	""
"0000950945"	"00005455"	"30"	"2115"	"0"	"2115"	"0"	"c.2115C>T"	"r.(?)"	"p.(=)"	""	""	""
"0000950946"	"00005455"	"30"	"1983"	"9"	"1983"	"9"	"c.1983+9G>T"	"r.(=)"	"p.(=)"	""	""	""
"0000950947"	"00005455"	"50"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Pro146Ser)"	""	""	""
"0000955003"	"00005455"	"70"	"200"	"0"	"200"	"0"	"c.200dup"	"r.(?)"	"p.(Val68GlyfsTer5)"	""	""	""
"0000969042"	"00005455"	"30"	"3402"	"0"	"3402"	"0"	"c.3402C>T"	"r.(?)"	"p.(=)"	""	""	""
"0000969043"	"00005455"	"90"	"2633"	"0"	"2633"	"0"	"c.2633G>C"	"r.(?)"	"p.(Gly878Ala)"	""	""	""
"0000969044"	"00005455"	"30"	"2613"	"13"	"2613"	"13"	"c.2613+13C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000969045"	"00005455"	"30"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Ala847Thr)"	""	""	""
"0000969047"	"00005455"	"30"	"1984"	"-90"	"1984"	"-90"	"c.1984-90C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000969048"	"00005455"	"30"	"1930"	"-53"	"1930"	"-53"	"c.1930-53C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000969049"	"00005455"	"30"	"1822"	"-44"	"1822"	"-44"	"c.1822-44C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000969050"	"00005455"	"50"	"1691"	"0"	"1691"	"0"	"c.1691G>A"	"r.(?)"	"p.(Arg564His)"	""	""	""
"0000969051"	"00005455"	"90"	"1514"	"0"	"1514"	"0"	"c.1514dup"	"r.(?)"	"p.(Pro507Serfs*4)"	""	""	""
"0000969052"	"00005455"	"30"	"1462"	"-12"	"1462"	"-12"	"c.1462-12C>G"	"r.(=)"	"p.(=)"	""	""	""
"0000969053"	"00005455"	"70"	"1408"	"0"	"1408"	"0"	"c.1408G>A"	"r.(?)"	"p.(Gly470Arg)"	""	""	""
"0000969054"	"00005455"	"30"	"1005"	"0"	"1005"	"0"	"c.1005T>A"	"r.(?)"	"p.(=)"	""	""	""
"0000969055"	"00005455"	"50"	"929"	"0"	"929"	"0"	"c.929G>A"	"r.(?)"	"p.(Arg310Lys)"	""	""	""
"0000969056"	"00005455"	"30"	"696"	"155"	"696"	"155"	"c.696+155G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000969057"	"00005455"	"50"	"131"	"0"	"131"	"0"	"c.131G>A"	"r.(?)"	"p.(Gly44Asp)"	""	""	""
"0000969058"	"00005455"	"30"	"104"	"-213"	"104"	"-213"	"c.104-213A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000969059"	"00005455"	"30"	"103"	"68"	"103"	"68"	"c.103+68G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000972008"	"00005455"	"90"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	""	""	""
"0000972009"	"00005455"	"70"	"3659"	"0"	"3661"	"0"	"c.3659_3661del"	"r.(?)"	"p.(Asp1220del)"	""	""	""
"0000972010"	"00005455"	"90"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194ValfsTer71)"	""	""	""
"0000982600"	"00005455"	"30"	"4249"	"-51"	"4249"	"-51"	"c.4249-51C>T"	"r.(=)"	"p.(=)"	""	""	""
"0000982601"	"00005455"	"50"	"4081"	"0"	"4081"	"0"	"c.4081G>A"	"r.(?)"	"p.(Glu1361Lys)"	""	""	""
"0000982602"	"00005455"	"30"	"4018"	"0"	"4018"	"0"	"c.4018G>A"	"r.(?)"	"p.(Gly1340Ser)"	""	""	""
"0000982603"	"00005455"	"70"	"3531"	"5"	"3531"	"5"	"c.3531+5G>T"	"r.spl?"	"p.?"	""	""	""
"0000982604"	"00005455"	"30"	"3424"	"-29"	"3424"	"-29"	"c.3424-29C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000982605"	"00005455"	"30"	"3396"	"0"	"3396"	"0"	"c.3396T>C"	"r.(?)"	"p.(=)"	""	""	""
"0000982606"	"00005455"	"30"	"3234"	"0"	"3234"	"0"	"c.3234C>T"	"r.(?)"	"p.(=)"	""	""	""
"0000982607"	"00005455"	"30"	"2973"	"0"	"2973"	"0"	"c.2973T>C"	"r.(?)"	"p.(=)"	""	""	""
"0000982608"	"00005455"	"50"	"2944"	"0"	"2944"	"0"	"c.2944C>A"	"r.(?)"	"p.(Pro982Thr)"	""	""	""
"0000982609"	"00005455"	"50"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Cys)"	""	""	""
"0000982610"	"00005455"	"30"	"2559"	"13"	"2559"	"13"	"c.2559+13G>A"	"r.(=)"	"p.(=)"	""	""	""
"0000982611"	"00005455"	"30"	"1930"	"-36"	"1930"	"-36"	"c.1930-36C>A"	"r.(=)"	"p.(=)"	""	""	""
"0000982612"	"00005455"	"30"	"1873"	"0"	"1873"	"0"	"c.1873G>A"	"r.(?)"	"p.(Ala625Thr)"	""	""	""
"0000982613"	"00005455"	"50"	"1406"	"0"	"1406"	"0"	"c.1406G>A"	"r.(?)"	"p.(Arg469Gln)"	""	""	""
"0000982614"	"00005455"	"30"	"1057"	"-102"	"1057"	"-102"	"c.1057-102A>G"	"r.(=)"	"p.(=)"	""	""	""
"0000982615"	"00005455"	"30"	"1002"	"26"	"1002"	"26"	"c.1002+26G>C"	"r.(=)"	"p.(=)"	""	""	""
"0000982616"	"00005455"	"30"	"983"	"0"	"983"	"0"	"c.983C>T"	"r.(?)"	"p.(Thr328Ile)"	""	""	""
"0000982617"	"00005455"	"50"	"328"	"0"	"328"	"0"	"c.328G>A"	"r.(?)"	"p.(Val110Ile)"	""	""	""
"0000982618"	"00005455"	"50"	"326"	"0"	"326"	"0"	"c.326G>A"	"r.(?)"	"p.(Gly109Asp)"	""	""	""
"0000982619"	"00005455"	"30"	"60"	"0"	"60"	"0"	"c.60G>A"	"r.(?)"	"p.(=)"	""	""	""
"0000985214"	"00005455"	"50"	"1012"	"0"	"1012"	"0"	"c.1012G>A"	"r.(?)"	"p.(Gly338Ser)"	""	""	""
"0000986101"	"00005455"	"90"	"3457"	"0"	"3457"	"0"	"c.3457del"	"r.(?)"	"p.(Asp1153MetfsTer86)"	""	""	""
"0000987842"	"00005455"	"90"	"249"	"0"	"253"	"0"	"c.249_253dup"	"r.(?)"	"p.(Glu85AlafsTer182)"	""	""	""
"0000989356"	"00005455"	"70"	"1004"	"0"	"1004"	"0"	"c.1004G>C"	"r.(?)"	"p.(Gly335Ala)"	"16"	"missense"	""
"0001003375"	"00005455"	"50"	"4074"	"0"	"4074"	"0"	"c.4074G>A"	"r.(?)"	"p.(Met1358Ile)"	""	""	""
"0001003376"	"00005455"	"50"	"4066"	"0"	"4066"	"0"	"c.4066C>T"	"r.(?)"	"p.(Arg1356Cys)"	""	""	""
"0001003377"	"00005455"	"50"	"3778"	"0"	"3778"	"0"	"c.3778C>T"	"r.(?)"	"p.(Arg1260Cys)"	""	""	""
"0001003378"	"00005455"	"30"	"3733"	"0"	"3733"	"0"	"c.3733A>T"	"r.(?)"	"p.(Ile1245Phe)"	""	""	""
"0001003379"	"00005455"	"50"	"3688"	"0"	"3688"	"0"	"c.3688G>A"	"r.(?)"	"p.(Glu1230Lys)"	""	""	""
"0001003380"	"00005455"	"30"	"3595"	"0"	"3595"	"0"	"c.3595A>G"	"r.(?)"	"p.(Ser1199Gly)"	""	""	""
"0001003381"	"00005455"	"30"	"3532"	"-3"	"3532"	"-3"	"c.3532-3C>T"	"r.spl?"	"p.?"	""	""	""
"0001003382"	"00005455"	"30"	"3423"	"0"	"3423"	"0"	"c.3423A>C"	"r.(?)"	"p.(=)"	""	""	""
"0001003383"	"00005455"	"50"	"3419"	"0"	"3419"	"0"	"c.3419C>T"	"r.(?)"	"p.(Pro1140Leu)"	""	""	""
"0001003384"	"00005455"	"50"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Cys)"	""	""	""
"0001003385"	"00005455"	"30"	"2539"	"0"	"2539"	"0"	"c.2539G>A"	"r.(?)"	"p.(Ala847Thr)"	""	""	""
"0001003386"	"00005455"	"90"	"2452"	"-1"	"2452"	"-1"	"c.2452-1G>T"	"r.spl?"	"p.?"	""	""	""
"0001003387"	"00005455"	"30"	"1822"	"-58"	"1822"	"-58"	"c.1822-58G>A"	"r.(=)"	"p.(=)"	""	""	""
"0001003388"	"00005455"	"30"	"1821"	"0"	"1821"	"0"	"c.1821C>T"	"r.(?)"	"p.(Val607=)"	""	""	""
"0001003389"	"00005455"	"30"	"1614"	"18"	"1614"	"18"	"c.1614+18C>T"	"r.(=)"	"p.(=)"	""	""	""
"0001003390"	"00005455"	"50"	"1583"	"0"	"1583"	"0"	"c.1583G>A"	"r.(?)"	"p.(Arg528His)"	""	""	""
"0001003391"	"00005455"	"50"	"1522"	"0"	"1522"	"0"	"c.1522G>A"	"r.(?)"	"p.(Ala508Thr)"	""	""	""
"0001003392"	"00005455"	"90"	"1436"	"0"	"1436"	"0"	"c.1436G>T"	"r.(?)"	"p.(Gly479Val)"	""	""	""
"0001003393"	"00005455"	"30"	"1270"	"0"	"1270"	"0"	"c.1270G>A"	"r.(?)"	"p.(Gly424Ser)"	""	""	""
"0001003394"	"00005455"	"30"	"1249"	"0"	"1249"	"0"	"c.1249C>G"	"r.(?)"	"p.(Pro417Ala)"	""	""	""
"0001003395"	"00005455"	"30"	"1062"	"0"	"1062"	"0"	"c.1062A>T"	"r.(?)"	"p.(Glu354Asp)"	""	""	""
"0001003396"	"00005455"	"50"	"903"	"5"	"903"	"5"	"c.903+5G>A"	"r.spl?"	"p.?"	""	""	""
"0001003397"	"00005455"	"90"	"442"	"0"	"442"	"0"	"c.442G>T"	"r.(?)"	"p.(Gly148*)"	""	""	""
"0001003398"	"00005455"	"30"	"428"	"0"	"428"	"0"	"c.428C>G"	"r.(?)"	"p.(Pro143Arg)"	""	""	""
"0001003399"	"00005455"	"30"	"391"	"0"	"391"	"0"	"c.391C>G"	"r.(?)"	"p.(Arg131Gly)"	""	""	""
"0001003400"	"00005455"	"90"	"334"	"-9"	"334"	"-9"	"c.334-9A>G"	"r.(=)"	"p.(=)"	""	""	""
"0001007463"	"00005455"	"70"	"3278"	"0"	"3278"	"0"	"c.3278G>A"	"r.(?)"	"p.(Arg1093His)"	""	""	""
"0001007464"	"00005455"	"70"	"2116"	"0"	"2116"	"0"	"c.2116G>A"	"r.(?)"	"p.(Asp706Asn)"	""	""	""
"0001007551"	"00005455"	"70"	"3077"	"0"	"3077"	"0"	"c.3077G>A"	"r.(?)"	"p.(Arg1026Gln)"	""	""	""
"0001007561"	"00005455"	"70"	"2593"	"0"	"2593"	"0"	"c.2593C>T"	"r.(?)"	"p.(Arg865Cys)"	""	""	""
"0001011367"	"00005455"	"90"	"702"	"0"	"702"	"0"	"c.702del"	"r.(?)"	"p.(Ala235LeufsTer30)"	""	""	""
"0001015563"	"00005455"	"70"	"2905"	"0"	"2905"	"0"	"c.2905G>A"	"r.(?)"	"p.(Glu969Lys)"	""	""	""
"0001015564"	"00005455"	"30"	"1882"	"0"	"1882"	"0"	"c.1882G>A"	"r.(?)"	"p.(Ala628Thr)"	""	""	""
"0001015565"	"00005455"	"90"	"1715"	"0"	"1715"	"0"	"c.1715G>C"	"r.(?)"	"p.(Gly572Ala)"	""	""	""
"0001015566"	"00005455"	"30"	"1443"	"0"	"1443"	"0"	"c.1443C>T"	"r.(?)"	"p.(=)"	""	""	""
"0001015567"	"00005455"	"50"	"1135"	"0"	"1135"	"0"	"c.1135G>A"	"r.(?)"	"p.(Ala379Thr)"	""	""	""
"0001015568"	"00005455"	"90"	"904"	"-1"	"904"	"-1"	"c.904-1G>C"	"r.spl?"	"p.?"	""	""	""
"0001020157"	"00005455"	"99"	"2451"	"77"	"2451"	"77"	"c.2451+77C>T"	"r.(=)"	"p.(=)"	"35i"	"insertion"	""
"0001020267"	"00005455"	"70"	"1940"	"0"	"1940"	"0"	"c.1940G>C"	"r.(?)"	"p.(Gly647Ala)"	""	""	""
"0001026959"	"00005455"	"30"	"4372"	"0"	"4372"	"0"	"c.4372G>A"	"r.(?)"	"p.(Val1458Ile)"	""	""	""
"0001026960"	"00005455"	"90"	"4135"	"0"	"4135"	"0"	"c.4135C>T"	"r.(?)"	"p.(Gln1379*)"	""	""	""
"0001026961"	"00005455"	"50"	"3310"	"0"	"3310"	"0"	"c.3310G>A"	"r.(?)"	"p.(Asp1104Asn)"	""	""	""
"0001026962"	"00005455"	"30"	"3243"	"0"	"3243"	"0"	"c.3243T>C"	"r.(?)"	"p.(=)"	""	""	""
"0001026963"	"00005455"	"90"	"3226"	"0"	"3226"	"0"	"c.3226G>A"	"r.(?)"	"p.(Gly1076Ser)"	""	""	""
"0001026964"	"00005455"	"90"	"3150"	"0"	"3158"	"0"	"c.3150_3158dup"	"r.(?)"	"p.(Ala1053_Gly1055dup)"	""	""	""
"0001026965"	"00005455"	"70"	"2905"	"0"	"2905"	"0"	"c.2905G>A"	"r.(?)"	"p.(Glu969Lys)"	""	""	""
"0001026966"	"00005455"	"90"	"2685"	"0"	"2685"	"0"	"c.2685del"	"r.(?)"	"p.(Gly896Alafs*212)"	""	""	""
"0001026967"	"00005455"	"50"	"2635"	"0"	"2635"	"0"	"c.2635G>A"	"r.(?)"	"p.(Ala879Thr)"	""	""	""
"0001026968"	"00005455"	"30"	"2595"	"0"	"2595"	"0"	"c.2595C>T"	"r.(?)"	"p.(Arg865=)"	""	""	""
"0001026969"	"00005455"	"30"	"2343"	"12"	"2343"	"12"	"c.2343+12G>A"	"r.(=)"	"p.(=)"	""	""	""
"0001026970"	"00005455"	"30"	"2274"	"0"	"2274"	"0"	"c.2274C>T"	"r.(?)"	"p.(=)"	""	""	""
"0001026971"	"00005455"	"10"	"1005"	"0"	"1005"	"0"	"c.1005T>A"	"r.(?)"	"p.(=)"	""	""	""
"0001026972"	"00005455"	"90"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Gly332Arg)"	""	""	""
"0001026973"	"00005455"	"90"	"934"	"0"	"934"	"0"	"c.934C>T"	"r.(?)"	"p.(Arg312Cys)"	""	""	""
"0001026974"	"00005455"	"30"	"904"	"-9"	"904"	"-9"	"c.904-9G>T"	"r.(=)"	"p.(=)"	""	""	""
"0001026975"	"00005455"	"90"	"859"	"-2"	"859"	"-2"	"c.859-2A>G"	"r.spl?"	"p.?"	""	""	""
"0001026976"	"00005455"	"90"	"735"	"0"	"735"	"0"	"c.735del"	"r.(?)"	"p.(Pro246Leufs*19)"	""	""	""
"0001026977"	"00005455"	"90"	"441"	"0"	"441"	"0"	"c.441dup"	"r.(?)"	"p.(Gly148Argfs*21)"	""	""	""
"0001026978"	"00005455"	"50"	"428"	"0"	"428"	"0"	"c.428C>G"	"r.(?)"	"p.(Pro143Arg)"	""	""	""
"0001041953"	"00005455"	"30"	"3815"	"-13"	"3815"	"-13"	"c.3815-13T>C"	"r.(=)"	"p.(=)"	""	""	""
"0001041954"	"00005455"	"30"	"3601"	"0"	"3601"	"0"	"c.3601C>T"	"r.(?)"	"p.(=)"	""	""	""
"0001041955"	"00005455"	"30"	"3061"	"0"	"3061"	"0"	"c.3061G>C"	"r.(?)"	"p.(Glu1021Gln)"	""	""	""
"0001041956"	"00005455"	"30"	"2944"	"0"	"2944"	"0"	"c.2944C>A"	"r.(?)"	"p.(Pro982Thr)"	""	""	""
"0001041957"	"00005455"	"50"	"1429"	"0"	"1429"	"0"	"c.1429C>G"	"r.(?)"	"p.(Pro477Ala)"	""	""	""
"0001041958"	"00005455"	"30"	"1300"	"-4"	"1300"	"-4"	"c.1300-4G>T"	"r.spl?"	"p.?"	""	""	""
"0001041959"	"00005455"	"50"	"444"	"0"	"461"	"0"	"c.444_461dup"	"r.(?)"	"p.(Pro149_Gly154dup)"	""	""	""
"0001041960"	"00005455"	"50"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Pro146Ser)"	""	""	""
"0001041961"	"00005455"	"50"	"436"	"0"	"436"	"0"	"c.436C>A"	"r.(?)"	"p.(Pro146Thr)"	""	""	""
"0001045541"	"00005455"	"70"	"2938"	"-2"	"2938"	"-2"	"c.2938-2A>C"	"r.(?)"	"p.(?)"	""	""	""
"0001046647"	"00005455"	"30"	"471"	"14"	"471"	"14"	"c.471+14C>G"	"r.(=)"	"p.(=)"	""	""	""
"0001048212"	"00005455"	"90"	"299"	"-1"	"299"	"-1"	"c.299-1G>C"	"r.spl"	"p.?"	""	""	""
"0001048213"	"00005455"	"70"	"370"	"-2"	"370"	"-2"	"c.370-2A>G"	"r.spl"	"p.?"	""	""	""
"0001048214"	"00005455"	"90"	"579"	"0"	"579"	"0"	"c.579del"	"r.(?)"	"p.(Gly194ValfsTer71)"	""	""	""
"0001048215"	"00005455"	"90"	"588"	"1"	"588"	"1"	"c.588+1G>A"	"r.spl"	"p.?"	""	""	""
"0001048216"	"00005455"	"70"	"607"	"0"	"607"	"0"	"c.607G>C"	"r.(?)"	"p.(Gly203Arg)"	""	""	""
"0001048217"	"00005455"	"90"	"608"	"0"	"608"	"0"	"c.608G>T"	"r.(?)"	"p.(Gly203Val)"	""	""	""
"0001048218"	"00005455"	"70"	"613"	"0"	"613"	"0"	"c.613C>G"	"r.(?)"	"p.(Pro205Ala)"	""	""	""
"0001048219"	"00005455"	"50"	"680"	"0"	"680"	"0"	"c.680G>A"	"r.(?)"	"p.(Gly227Glu)"	""	""	""
"0001048220"	"00005455"	"70"	"770"	"0"	"770"	"0"	"c.770G>T"	"r.(?)"	"p.(Gly257Val)"	""	""	""
"0001048221"	"00005455"	"90"	"814"	"0"	"814"	"0"	"c.814G>T"	"r.(?)"	"p.(Gly272Cys)"	""	""	""
"0001048222"	"00005455"	"90"	"903"	"1"	"903"	"1"	"c.903+1G>A"	"r.spl"	"p.?"	""	""	""
"0001048223"	"00005455"	"70"	"959"	"0"	"959"	"0"	"c.959G>T"	"r.(?)"	"p.(Gly320Val)"	""	""	""
"0001048224"	"00005455"	"90"	"1012"	"0"	"1012"	"0"	"c.1012G>C"	"r.(?)"	"p.(Gly338Arg)"	""	""	""
"0001048225"	"00005455"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Arg361Ter)"	""	""	""
"0001048226"	"00005455"	"90"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377AlafsTer164)"	""	""	""
"0001048227"	"00005455"	"90"	"1128"	"0"	"1128"	"0"	"c.1128del"	"r.(?)"	"p.(Gly377AlafsTer164)"	""	""	""
"0001048228"	"00005455"	"90"	"1155"	"1"	"1155"	"1"	"c.1155+1G>C"	"r.spl"	"p.?"	""	""	""
"0001048229"	"00005455"	"70"	"1155"	"3"	"1155"	"6"	"c.1155+3_1155+6delAAGT"	"r.spl"	"p.?"	""	""	""
"0001048230"	"00005455"	"90"	"1379"	"0"	"1379"	"0"	"c.1379del"	"r.(?)"	"p.(Pro460LeufsTer81)"	""	""	""
"0001048231"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0001048232"	"00005455"	"90"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Gly530Ser)"	""	""	""
"0001048233"	"00005455"	"90"	"1792"	"0"	"1792"	"0"	"c.1792C>T"	"r.(?)"	"p.(Arg598Ter)"	""	""	""
"0001048234"	"00005455"	"50"	"1795"	"0"	"1795"	"0"	"c.1795G>A"	"r.(?)"	"p.(Gly599Ser)"	""	""	""
"0001048235"	"00005455"	"90"	"1930"	"-1"	"1930"	"-1"	"c.1930-1G>T"	"r.spl"	"p.?"	""	""	""
"0001048236"	"00005455"	"90"	"1930"	"-1"	"1930"	"-1"	"c.1930-1G>T"	"r.spl"	"p.?"	""	""	""
"0001048237"	"00005455"	"90"	"2072"	"0"	"2072"	"0"	"c.2072del"	"r.(?)"	"p.(Pro691LeufsTer75)"	""	""	""
"0001048238"	"00005455"	"90"	"2072"	"0"	"2072"	"0"	"c.2072del"	"r.(?)"	"p.(Pro691LeufsTer75)"	""	""	""
"0001048239"	"00005455"	"90"	"2154"	"0"	"2154"	"0"	"c.2154del"	"r.(?)"	"p.(Gly719ValfsTer47)"	""	""	""
"0001048240"	"00005455"	"50"	"2282"	"0"	"2282"	"0"	"c.2282G>A"	"r.(?)"	"p.(Gly761Asp)"	""	""	""
"0001048241"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	""	""	""
"0001048242"	"00005455"	"90"	"2299"	"0"	"2299"	"0"	"c.2299G>A"	"r.(?)"	"p.(Gly767Ser)"	""	""	""
"0001048243"	"00005455"	"90"	"2340"	"0"	"2343"	"4"	"c.2340_2343+4del"	"p.Asp780Glufs*327"	"p.(Asp780GlufsTer327)"	""	""	""
"0001048244"	"00005455"	"50"	"2397"	"7"	"2397"	"7"	"c.2397+7A>C"	"r.spl"	"p.?"	""	""	""
"0001048245"	"00005455"	"70"	"2471"	"0"	"2471"	"0"	"c.2471G>C"	"r.(?)"	"p.(Gly824Ala)"	""	""	""
"0001048246"	"00005455"	"70"	"2715"	"0"	"2715"	"0"	"c.2715del"	"r.(?)"	"p.(Gly906AlafsTer202)"	""	""	""
"0001048247"	"00005455"	"50"	"2781"	"0"	"2789"	"0"	"c.2781_2789dup"	"r.(?)"	"p.(Pro928_Pro930dup)"	""	""	""
"0001048248"	"00005455"	"90"	"2854"	"0"	"2854"	"0"	"c.2854C>T"	"r.(?)"	"p.(Gln952Ter)"	""	""	""
"0001048249"	"00005455"	"50"	"2957"	"0"	"2957"	"0"	"c.2957G>A"	"r.(?)"	"p.(Gly986Asp)"	""	""	""
"0001048250"	"00005455"	"90"	"3076"	"0"	"3076"	"0"	"c.3076C>T"	"r.(?)"	"p.(Arg1026Ter)"	""	""	""
"0001048251"	"00005455"	"90"	"3118"	"0"	"3118"	"0"	"c.3118G>A"	"r.(?)"	"p.(Gly1040Ser)"	""	""	""
"0001048252"	"00005455"	"90"	"3162"	"0"	"3162"	"0"	"c.3162del"	"r.(?)"	"p.(Gly1055AlafsTer53)"	""	""	""
"0001048253"	"00005455"	"50"	"3207"	"2"	"3207"	"2"	"c.3207+2dup"	"r.spl"	"p.?"	""	""	""
"0001048254"	"00005455"	"90"	"3421"	"0"	"3421"	"0"	"c.3421C>T"	"r.(?)"	"p.(Arg1141Ter)"	""	""	""
"0001048255"	"00005455"	"70"	"3461"	"0"	"3461"	"0"	"c.3461G>T"	"r.(?)"	"p.(Gly1154Val)"	""	""	""
"0001048256"	"00005455"	"90"	"3505"	"0"	"3505"	"0"	"c.3505G>A"	"r.(?)"	"p.(Gly1169Ser)"	""	""	""
"0001048257"	"00005455"	"90"	"3531"	"1"	"3531"	"1"	"c.3531+1G>A"	"r.spl"	"p.?"	""	""	""
"0001048258"	"00005455"	"90"	"4051"	"0"	"4051"	"0"	"c.4051C>T"	"r.(?)"	"p.(Gln1351Ter)"	""	""	""
"0001048259"	"00005455"	"70"	"4237"	"0"	"4237"	"0"	"c.4237G>A"	"r.(?)"	"p.(Asp1413Asn)"	""	""	""
"0001048260"	"00005455"	"90"	"4323"	"0"	"4338"	"0"	"c.4323_4338dup"	"r.(?)"	"p.(Val1447CysfsTer109)"	""	""	""
"0001048261"	"00005455"	"90"	"4391"	"0"	"4391"	"0"	"c.4391T>C"	"r.(?)"	"p.(Leu1464Pro)"	""	""	""
"0001048262"	"00005455"	"90"	"4391"	"0"	"4391"	"0"	"c.4391T>C"	"r.(?)"	"p.(Leu1464Pro)"	""	""	""
"0001048263"	"00005455"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.0"	"p.0"	""	""	""
"0001056070"	"00005455"	"50"	"3509"	"0"	"3509"	"0"	"c.3509G>C"	"r.(?)"	"p.(Arg1170Pro)"	""	""	""
"0001056071"	"00005455"	"50"	"3503"	"0"	"3503"	"0"	"c.3503G>A"	"r.(?)"	"p.(Arg1168His)"	""	""	""
"0001056072"	"00005455"	"50"	"3277"	"0"	"3277"	"0"	"c.3277C>T"	"r.(?)"	"p.(Arg1093Cys)"	""	""	""
"0001056073"	"00005455"	"30"	"1669"	"-6"	"1669"	"-6"	"c.1669-6C>A"	"r.(=)"	"p.(=)"	""	""	""
"0001056074"	"00005455"	"90"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Arg)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2992
"{{screeningid}}"	"{{variantid}}"
"0000050644"	"0000079624"
"0000080074"	"0000128951"
"0000106373"	"0000171994"
"0000132897"	"0000222080"
"0000155260"	"0000354930"
"0000174795"	"0000394662"
"0000232500"	"0000474917"
"0000232501"	"0000474918"
"0000232502"	"0000474919"
"0000232503"	"0000474920"
"0000232504"	"0000474921"
"0000232505"	"0000474922"
"0000232506"	"0000474923"
"0000232508"	"0000474924"
"0000232509"	"0000474925"
"0000232510"	"0000474926"
"0000235169"	"0000477921"
"0000235170"	"0000477922"
"0000235171"	"0000477923"
"0000235172"	"0000477924"
"0000235173"	"0000477925"
"0000235174"	"0000477926"
"0000235175"	"0000477927"
"0000235176"	"0000477928"
"0000235177"	"0000477929"
"0000235178"	"0000477930"
"0000235179"	"0000477931"
"0000235180"	"0000477932"
"0000235181"	"0000477933"
"0000235182"	"0000477934"
"0000235183"	"0000477935"
"0000235184"	"0000477936"
"0000235185"	"0000477937"
"0000235186"	"0000477938"
"0000235187"	"0000477939"
"0000235188"	"0000477940"
"0000235189"	"0000477941"
"0000235190"	"0000477942"
"0000235191"	"0000477943"
"0000235192"	"0000477944"
"0000235193"	"0000477945"
"0000235194"	"0000477946"
"0000235195"	"0000477947"
"0000235196"	"0000477948"
"0000235197"	"0000477949"
"0000235198"	"0000477950"
"0000235199"	"0000477951"
"0000235200"	"0000477952"
"0000235201"	"0000477953"
"0000235202"	"0000477954"
"0000235203"	"0000477955"
"0000235204"	"0000477956"
"0000235205"	"0000477957"
"0000235206"	"0000477958"
"0000235207"	"0000477959"
"0000235208"	"0000477960"
"0000235209"	"0000477961"
"0000235210"	"0000477962"
"0000235211"	"0000477963"
"0000235212"	"0000477964"
"0000235213"	"0000477965"
"0000235214"	"0000477966"
"0000235215"	"0000477967"
"0000235216"	"0000477968"
"0000235217"	"0000477969"
"0000235218"	"0000477970"
"0000235219"	"0000477971"
"0000235220"	"0000477972"
"0000235221"	"0000477973"
"0000235222"	"0000477974"
"0000235223"	"0000477975"
"0000235224"	"0000477976"
"0000235225"	"0000477977"
"0000235226"	"0000477978"
"0000235227"	"0000477979"
"0000235228"	"0000477980"
"0000235229"	"0000477981"
"0000235230"	"0000477982"
"0000235231"	"0000477983"
"0000235232"	"0000477984"
"0000235233"	"0000477985"
"0000235234"	"0000477986"
"0000235235"	"0000477987"
"0000235236"	"0000477988"
"0000235237"	"0000477989"
"0000235238"	"0000477990"
"0000235239"	"0000477991"
"0000235240"	"0000477992"
"0000235241"	"0000477993"
"0000235242"	"0000477994"
"0000235243"	"0000477995"
"0000235244"	"0000477996"
"0000235245"	"0000477997"
"0000235246"	"0000477998"
"0000235247"	"0000477999"
"0000235248"	"0000478000"
"0000235249"	"0000478001"
"0000235250"	"0000478002"
"0000235251"	"0000478003"
"0000235252"	"0000478004"
"0000235253"	"0000478005"
"0000235254"	"0000478006"
"0000235255"	"0000478007"
"0000235256"	"0000478008"
"0000235257"	"0000478009"
"0000235258"	"0000478010"
"0000235259"	"0000478011"
"0000235260"	"0000478012"
"0000235261"	"0000478013"
"0000235262"	"0000478014"
"0000235263"	"0000478015"
"0000235264"	"0000478016"
"0000235265"	"0000478017"
"0000235266"	"0000478018"
"0000235267"	"0000478019"
"0000235268"	"0000478020"
"0000235269"	"0000478021"
"0000235270"	"0000478022"
"0000235271"	"0000478023"
"0000235272"	"0000478024"
"0000235273"	"0000478025"
"0000235274"	"0000478026"
"0000235275"	"0000478027"
"0000235276"	"0000478028"
"0000235277"	"0000478029"
"0000235278"	"0000478030"
"0000235279"	"0000478031"
"0000235280"	"0000478032"
"0000235281"	"0000478033"
"0000235282"	"0000478034"
"0000235283"	"0000478035"
"0000235284"	"0000478036"
"0000235285"	"0000478037"
"0000235286"	"0000478038"
"0000235287"	"0000478039"
"0000235288"	"0000478040"
"0000235289"	"0000478041"
"0000235290"	"0000478042"
"0000235291"	"0000478043"
"0000235292"	"0000478044"
"0000235293"	"0000478045"
"0000235294"	"0000478046"
"0000235295"	"0000478047"
"0000235296"	"0000478048"
"0000235297"	"0000478049"
"0000235298"	"0000478050"
"0000235299"	"0000478051"
"0000235300"	"0000478052"
"0000235301"	"0000478053"
"0000235302"	"0000478054"
"0000235303"	"0000478055"
"0000235304"	"0000478056"
"0000235305"	"0000478057"
"0000235306"	"0000478058"
"0000235307"	"0000478059"
"0000235308"	"0000478060"
"0000235309"	"0000478061"
"0000235310"	"0000478062"
"0000235311"	"0000478063"
"0000235312"	"0000478064"
"0000235313"	"0000478065"
"0000235314"	"0000478066"
"0000235315"	"0000478067"
"0000235316"	"0000478068"
"0000235317"	"0000478069"
"0000235318"	"0000478070"
"0000235319"	"0000478071"
"0000235320"	"0000478072"
"0000235321"	"0000478073"
"0000235322"	"0000478074"
"0000235323"	"0000478075"
"0000235324"	"0000478076"
"0000235325"	"0000478077"
"0000235326"	"0000478078"
"0000235327"	"0000478079"
"0000235328"	"0000478080"
"0000235329"	"0000478081"
"0000235330"	"0000478082"
"0000235331"	"0000478083"
"0000235332"	"0000478084"
"0000235333"	"0000478085"
"0000235334"	"0000478086"
"0000235335"	"0000478087"
"0000235336"	"0000478088"
"0000235337"	"0000478089"
"0000235338"	"0000478090"
"0000235339"	"0000478091"
"0000235340"	"0000478092"
"0000235341"	"0000478093"
"0000235342"	"0000478094"
"0000235343"	"0000478095"
"0000235344"	"0000478096"
"0000235345"	"0000478097"
"0000235346"	"0000478098"
"0000235347"	"0000478099"
"0000235348"	"0000478100"
"0000235349"	"0000478101"
"0000235350"	"0000478102"
"0000235351"	"0000478103"
"0000235352"	"0000478104"
"0000235353"	"0000478105"
"0000235354"	"0000478106"
"0000235355"	"0000478107"
"0000235356"	"0000478108"
"0000235357"	"0000478109"
"0000235358"	"0000478110"
"0000235359"	"0000478111"
"0000235360"	"0000478112"
"0000235361"	"0000478113"
"0000235362"	"0000478114"
"0000235363"	"0000478115"
"0000235364"	"0000478116"
"0000235365"	"0000478117"
"0000235366"	"0000478118"
"0000235367"	"0000478119"
"0000235368"	"0000478120"
"0000235369"	"0000478121"
"0000235370"	"0000478122"
"0000235371"	"0000478123"
"0000235372"	"0000478124"
"0000235373"	"0000478125"
"0000235374"	"0000478126"
"0000235375"	"0000478127"
"0000235376"	"0000478128"
"0000235377"	"0000478129"
"0000235378"	"0000478130"
"0000235379"	"0000478131"
"0000235380"	"0000478132"
"0000235381"	"0000478133"
"0000235382"	"0000478134"
"0000235383"	"0000478135"
"0000235384"	"0000478136"
"0000235385"	"0000478137"
"0000235386"	"0000478138"
"0000235387"	"0000478139"
"0000235388"	"0000478140"
"0000235389"	"0000478141"
"0000235390"	"0000478142"
"0000235391"	"0000478143"
"0000235392"	"0000478144"
"0000235393"	"0000478145"
"0000235394"	"0000478146"
"0000235395"	"0000478147"
"0000235396"	"0000478148"
"0000235397"	"0000478149"
"0000235398"	"0000478150"
"0000235399"	"0000478151"
"0000235400"	"0000478152"
"0000235401"	"0000478153"
"0000235402"	"0000478154"
"0000235403"	"0000478155"
"0000235404"	"0000478156"
"0000235405"	"0000478157"
"0000235406"	"0000478158"
"0000235407"	"0000478159"
"0000235408"	"0000478160"
"0000235409"	"0000478161"
"0000235410"	"0000478162"
"0000235411"	"0000478163"
"0000235412"	"0000478164"
"0000261907"	"0000592080"
"0000261973"	"0000592096"
"0000262295"	"0000592584"
"0000262295"	"0000592585"
"0000262296"	"0000592586"
"0000262297"	"0000592587"
"0000262298"	"0000592588"
"0000262299"	"0000592589"
"0000266853"	"0000597680"
"0000266854"	"0000597681"
"0000266857"	"0000597684"
"0000266858"	"0000597685"
"0000266859"	"0000597686"
"0000266860"	"0000597687"
"0000271088"	"0000624944"
"0000292948"	"0000649637"
"0000292950"	"0000649639"
"0000292951"	"0000649640"
"0000292952"	"0000649641"
"0000296911"	"0000659560"
"0000297496"	"0000660098"
"0000300861"	"0000663763"
"0000300862"	"0000663764"
"0000300863"	"0000663765"
"0000300864"	"0000663766"
"0000300865"	"0000663767"
"0000300866"	"0000663768"
"0000300867"	"0000663769"
"0000300868"	"0000663770"
"0000300869"	"0000663771"
"0000300870"	"0000663772"
"0000300871"	"0000663773"
"0000300872"	"0000663774"
"0000300874"	"0000663775"
"0000300875"	"0000663776"
"0000300876"	"0000663777"
"0000300877"	"0000663778"
"0000300878"	"0000663779"
"0000300879"	"0000663780"
"0000300880"	"0000663781"
"0000300881"	"0000663782"
"0000300882"	"0000663783"
"0000300883"	"0000663784"
"0000300884"	"0000663785"
"0000300885"	"0000663786"
"0000300886"	"0000663788"
"0000300888"	"0000663789"
"0000300889"	"0000663790"
"0000300890"	"0000663791"
"0000300891"	"0000663792"
"0000300892"	"0000663793"
"0000300893"	"0000663794"
"0000300894"	"0000663795"
"0000300895"	"0000663796"
"0000300896"	"0000663797"
"0000301046"	"0000663941"
"0000301047"	"0000663942"
"0000301048"	"0000663943"
"0000301049"	"0000663944"
"0000301050"	"0000663945"
"0000301051"	"0000663946"
"0000301052"	"0000663947"
"0000301053"	"0000663948"
"0000301056"	"0000663951"
"0000301057"	"0000663952"
"0000301058"	"0000663953"
"0000301059"	"0000663954"
"0000301060"	"0000663955"
"0000301061"	"0000663956"
"0000301062"	"0000663957"
"0000301063"	"0000663958"
"0000301064"	"0000663959"
"0000301065"	"0000663960"
"0000301066"	"0000663961"
"0000301067"	"0000663962"
"0000301068"	"0000663963"
"0000301069"	"0000663964"
"0000301070"	"0000663965"
"0000301071"	"0000663966"
"0000301072"	"0000663967"
"0000301073"	"0000663968"
"0000301074"	"0000663969"
"0000301075"	"0000663970"
"0000301076"	"0000663971"
"0000301468"	"0000664418"
"0000301469"	"0000664419"
"0000301470"	"0000664420"
"0000301471"	"0000664421"
"0000301472"	"0000664422"
"0000301473"	"0000664423"
"0000301474"	"0000664424"
"0000301475"	"0000664425"
"0000301476"	"0000664426"
"0000301477"	"0000664427"
"0000301478"	"0000664428"
"0000301479"	"0000664429"
"0000301480"	"0000664430"
"0000301481"	"0000664431"
"0000301482"	"0000664432"
"0000301483"	"0000664433"
"0000301484"	"0000664434"
"0000301506"	"0000664464"
"0000301507"	"0000664465"
"0000301508"	"0000664466"
"0000301509"	"0000664467"
"0000301510"	"0000664468"
"0000301511"	"0000664469"
"0000301512"	"0000664470"
"0000301513"	"0000664471"
"0000301514"	"0000664472"
"0000301515"	"0000664473"
"0000301516"	"0000664474"
"0000301517"	"0000664475"
"0000301518"	"0000664476"
"0000301519"	"0000664477"
"0000301520"	"0000664478"
"0000301521"	"0000664479"
"0000301522"	"0000664480"
"0000301523"	"0000664481"
"0000301524"	"0000664482"
"0000301525"	"0000664483"
"0000321650"	"0000704576"
"0000321651"	"0000704577"
"0000321652"	"0000704578"
"0000321653"	"0000704579"
"0000321654"	"0000704580"
"0000321655"	"0000704581"
"0000321656"	"0000704582"
"0000321657"	"0000704583"
"0000321658"	"0000704584"
"0000321659"	"0000704585"
"0000321660"	"0000704586"
"0000321661"	"0000704587"
"0000321662"	"0000704588"
"0000321663"	"0000704589"
"0000321664"	"0000704590"
"0000321665"	"0000704591"
"0000321666"	"0000704592"
"0000321667"	"0000704593"
"0000321668"	"0000704594"
"0000321669"	"0000704595"
"0000321670"	"0000704596"
"0000321671"	"0000704597"
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