### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COLQ)
# 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}}"
"COLQ"	"collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase"	"3"	"p"	"unknown"	"NG_009032.1"	"UD_132118949037"	""	"https://www.LOVD.nl/COLQ"	""	"1"	"2226"	"8292"	"603033"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>"	""	"g"	"https://databases.lovd.nl/shared/refseq/COLQ_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <a href=\"http://www.DMD.nl\" target=\"_blank\">Leiden Muscular Dystrophy pages</a></font>"	"-1"	""	"-1"	"00001"	"2011-02-01 00:00:00"	"00006"	"2018-11-11 11:00:10"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00005508"	"COLQ"	"transcript variant I"	"002"	"NM_005677.3"	""	"NP_005668.2"	""	""	""	"-126"	"2879"	"1368"	"15563258"	"15491640"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02444"	"CMS5;EAD"	"myasthenic syndrome, congenital, type 5 (CMS-5, endplate acetylcholinesterase deficiency (EAD))"	"AR"	"603034"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04312"	"CMS"	"myasthenic syndrome, congenital (CMS)"	""	""	""	""	""	"00006"	"2015-08-28 20:21:50"	"00006"	"2021-12-10 21:51:32"
"05126"	"LGMD"	"dystrophy, muscular, limb-girdle (LGMD)"	""	""	""	""	""	"00006"	"2016-01-26 06:05:36"	""	""
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"COLQ"	"02444"


## Individuals ## Do not remove or alter this header ##
## Count = 100
"{{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}}"
"00035418"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035419"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035420"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035421"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035422"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035423"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035424"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035425"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035426"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035427"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00080810"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00080906"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"no information from parents"	""	""	""	""	"0"	""	""	""	""
"00081045"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00205291"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1998:9689136}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205292"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1998:9689136}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205293"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1998:9689136}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205294"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1998:9689136}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205295"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1998:9689136}"	"carrier mother and borther"	""	""	"United States"	""	"0"	""	""	""	""
"00205296"	""	""	""	"7"	""	"00006"	"{PMID:Donger 1998:9758617}"	"2-generation family, 14 children, 6 affecteds (2F, 4M)"	""	""	"Spain"	""	"0"	""	""	""	""
"00205297"	""	""	""	"4"	""	"00006"	"{PMID:Shapira 2002:11865139}"	"4-generation family, 2 affecteds (F, M)"	""	""	"Palestine"	""	"0"	""	""	"Arab"	""
"00205298"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205299"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205300"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205301"	""	""	""	"1"	""	"00513"	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	"2-generation family, 2 affecteds; sister of 15248101-Fam1Pat1"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00205302"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205303"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205304"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205305"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205306"	""	""	""	"2"	""	"00006"	"{PMID:Shapira 2002:11865139}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00205307"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1998:9689136}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205308"	""	""	""	"2"	""	"00006"	"{PMID:Shapira 2002:11865139}"	"3-generation family, first cousin marriage"	"F"	""	"Palestine"	""	"0"	""	""	"Arab"	""
"00205309"	""	""	""	"2"	""	"00006"	"Pat5 in {PMID:Hutchinson 1993:8390325}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00205310"	""	""	""	"2"	""	"00006"	"Pat3 in {PMID:Hutchinson 1993:8390325}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00205311"	""	""	""	"1"	""	"00006"	"{PMID:Kimbell 2004:14702351}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00205312"	""	""	""	"1"	""	"00513"	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	"2-generation family, 2 affecteds; brother of 15248101-Fam1Pat2"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00205313"	""	""	""	"2"	""	"00006"	"{PMID:Schreiner 2007:17300939}"	"2-generation family, 2 affecteds; brother of 17300939-Pat2"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00205314"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Lebanon"	""	"0"	""	""	""	""
"00205315"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"M"	""	"Serbia"	""	"0"	""	""	""	""
"00205316"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00205317"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00205318"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00205319"	""	""	""	"1"	""	"00006"	"{PMID:Mihaylova 2008:18180250}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00205320"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Pakistan"	""	"0"	""	""	""	""
"00205321"	""	""	""	"1"	""	"00006"	"{PMID:Mihaylova 2008:18180250}"	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00205322"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"M"	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00205323"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"M"	""	"Czech Republic"	""	"0"	""	""	""	""
"00205324"	""	""	""	"1"	""	"00006"	"{PMID:Schreiner 2007:17300939}"	"grandfather in family"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00205325"	""	""	""	"4"	""	"00006"	"{PMID:Ohno 1998:9689136}"	"3-generation family, 3 affecteds (F, 2F)"	""	""	"United States"	""	"0"	""	""	""	""
"00205326"	""	""	""	"1"	""	"00006"	"{PMID:Shapira 2002:11865139}"	""	"F"	""	"Iraq"	""	"0"	""	""	"Jewish"	""
"00205327"	""	""	""	"1"	""	"00006"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	""
"00205328"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	"younger sister of 17300939-Pat1"	"F"	"no"	"Germany"	">5y"	"0"	""	""	""	""
"00205329"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	"older brother of 17300939-Pat2"	"M"	"no"	"Germany"	"3y"	"0"	""	""	""	""
"00205330"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00205331"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2000:10665486}"	"asymptomatic mother 10665486-Pat3"	""	""	"United States"	""	"0"	""	""	""	""
"00205332"	""	""	""	"1"	""	"00006"	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00205333"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00205334"	""	""	""	"1"	""	"00006"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00205335"	""	""	""	"1"	""	"00006"	"{PMID:Mihaylova 2008:18180250}"	""	"M"	""	"Spain"	""	"0"	""	""	""	""
"00205336"	""	""	""	"1"	""	"00006"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00205337"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}, {PMID:Mihaylova 2010:20562457}"	""	"M"	""	"India"	""	"0"	""	""	"African"	""
"00205338"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Pakistan"	""	"0"	""	""	""	""
"00205339"	""	""	""	"1"	""	"00006"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Italy"	""	"0"	""	""	""	""
"00205340"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	""
"00205341"	""	""	""	"1"	""	"00513"	"{PMID:Mihaylova 2008:18180250}"	""	"F"	""	"Hungary"	""	"0"	""	""	""	""
"00205342"	""	""	""	"1"	""	"00006"	"{PMID:Schreiner 2007:17300939}"	"2-generation family, 2 affecteds; siser of 17300939-Pat1"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00205343"	""	""	""	"2"	""	"00006"	"{PMID:Yueng 2010:20370815}"	"family, 2 affected siblings (M)"	"M"	""	"China"	""	"0"	""	""	""	""
"00205344"	""	""	""	"2"	""	"00513"	"{PMID:Schreiner 2007:17300939}"	"mother and brother of 17300939-Pat1/2"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00205345"	""	""	""	"1"	""	"00513"	"{PMID:Schreiner 2007:17300939}"	"grandmother of 17300939-Pat1/2"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00205346"	""	""	""	"1"	""	"00513"	"{PMID:Schreiner 2007:17300939}"	"father of 17300939-Pat1/2"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00205347"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205348"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205349"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205350"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205351"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205352"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205353"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205354"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205355"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205356"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205357"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205358"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00205359"	""	""	""	"1"	""	"00464"	""	""	"M"	"?"	"Syria"	""	"0"	""	""	"Arab"	""
"00205360"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	"Hispanic"	""
"00205361"	""	""	""	"2"	""	"00464"	""	""	"F"	""	"Syria"	""	"0"	""	""	"Arab"	""
"00205362"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	"Arab"	""
"00205363"	""	""	""	"1"	""	"00536"	"{PMID:Nakata 2013:23553736}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00205364"	""	""	""	"1"	""	"00536"	"{PMID:Nakata 2013:23553736}"	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00205365"	""	""	""	"1"	""	"00536"	"{PMID:Nakata 2013:23553736}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00205366"	""	""	""	"1"	""	"00464"	""	""	"F"	"?"	"United States"	""	"0"	""	""	"Hispanic"	""
"00228273"	""	""	""	"1"	""	"01807"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00293251"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293252"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00314187"	""	""	""	"2"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00314188"	""	""	""	"2"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00316025"	""	""	""	"1"	""	"00006"	"{PMID:Zaharieva 2016:26700687}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"white"	"Fam1PatII1"
"00399004"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"M"	""	"Spain"	""	"0"	""	""	""	"P29"
"00399058"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"P123"
"00406642"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"12"
"00406653"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"23"
"00443936"	""	""	""	"2"	""	"03652"	""	"sibling 00443936"	"M"	"?"	"Argentina"	""	""	""	"salbutamol"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 95
"{{individualid}}"	"{{diseaseid}}"
"00035420"	"00198"
"00035422"	"00198"
"00035425"	"00198"
"00035426"	"00198"
"00035427"	"00198"
"00080810"	"02444"
"00080906"	"02444"
"00081045"	"02444"
"00205291"	"04312"
"00205292"	"04312"
"00205293"	"04312"
"00205294"	"04312"
"00205295"	"04312"
"00205296"	"04312"
"00205297"	"04312"
"00205298"	"04312"
"00205299"	"04312"
"00205300"	"04312"
"00205301"	"04312"
"00205302"	"04312"
"00205303"	"04312"
"00205304"	"04312"
"00205305"	"04312"
"00205306"	"04312"
"00205307"	"04312"
"00205308"	"04312"
"00205309"	"04312"
"00205310"	"04312"
"00205311"	"04312"
"00205312"	"04312"
"00205313"	"04312"
"00205314"	"04312"
"00205315"	"04312"
"00205316"	"04312"
"00205317"	"04312"
"00205318"	"04312"
"00205319"	"04312"
"00205320"	"04312"
"00205321"	"04312"
"00205322"	"04312"
"00205323"	"04312"
"00205324"	"00000"
"00205325"	"04312"
"00205326"	"04312"
"00205327"	"04312"
"00205328"	"04312"
"00205329"	"04312"
"00205330"	"04312"
"00205331"	"00198"
"00205332"	"04312"
"00205333"	"04312"
"00205334"	"04312"
"00205335"	"04312"
"00205336"	"04312"
"00205337"	"04312"
"00205338"	"04312"
"00205339"	"04312"
"00205340"	"04312"
"00205341"	"04312"
"00205342"	"04312"
"00205343"	"04312"
"00205344"	"00000"
"00205345"	"00198"
"00205346"	"00198"
"00205347"	"04312"
"00205348"	"04312"
"00205349"	"04312"
"00205350"	"04312"
"00205351"	"04312"
"00205352"	"04312"
"00205353"	"04312"
"00205354"	"04312"
"00205355"	"04312"
"00205356"	"04312"
"00205357"	"04312"
"00205358"	"04312"
"00205359"	"04312"
"00205360"	"04312"
"00205361"	"04312"
"00205362"	"04312"
"00205363"	"04312"
"00205364"	"04312"
"00205365"	"04312"
"00205366"	"04312"
"00228273"	"00198"
"00293251"	"00198"
"00293252"	"00198"
"00314187"	"05126"
"00314188"	"05126"
"00316025"	"00198"
"00399004"	"05618"
"00399058"	"05618"
"00406642"	"02444"
"00406653"	"02444"
"00443936"	"02444"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02444, 04312, 05126, 05618
## Count = 89
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000060379"	"02444"	"00080810"	"01758"	"Familial, autosomal recessive"	""	"Myasthenic syndrome, congenital, 5 (OMIM:603034)"	""	""	""	""	""	""	""	""	""	""	""
"0000060475"	"02444"	"00080906"	"01758"	"Familial, autosomal recessive"	""	"Myasthenic syndrome, congenital, 5 (OMIM:603034)"	""	""	""	""	""	""	""	""	""	""	""
"0000060614"	"02444"	"00081045"	"01758"	"Familial, autosomal recessive"	""	"Myasthenic syndrome, congenital, 5 (OMIM:603034)"	""	""	""	""	""	""	""	""	""	""	""
"0000153485"	"04312"	"00205291"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153486"	"04312"	"00205292"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153487"	"04312"	"00205293"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153488"	"04312"	"00205294"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153489"	"04312"	"00205295"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153490"	"04312"	"00205296"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153491"	"04312"	"00205297"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153492"	"04312"	"00205298"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153493"	"04312"	"00205299"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153494"	"04312"	"00205300"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153495"	"04312"	"00205301"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153496"	"04312"	"00205302"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153497"	"04312"	"00205303"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153498"	"04312"	"00205304"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153499"	"04312"	"00205305"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153500"	"04312"	"00205306"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153501"	"04312"	"00205307"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153502"	"04312"	"00205308"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153503"	"04312"	"00205309"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153504"	"04312"	"00205310"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153505"	"04312"	"00205311"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153506"	"04312"	"00205312"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153507"	"04312"	"00205313"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153508"	"04312"	"00205314"	"00513"	"Unknown"	""	"mild"	"<1y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153509"	"04312"	"00205315"	"00513"	"Unknown"	""	"mild"	"2y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153510"	"04312"	"00205316"	"00513"	"Unknown"	""	"severe"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153511"	"04312"	"00205317"	"00513"	"Unknown"	""	"moderate"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153512"	"04312"	"00205318"	"00513"	"Unknown"	""	"severe"	"6y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153513"	"04312"	"00205319"	"00006"	"Unknown"	""	"moderate"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153514"	"04312"	"00205320"	"00513"	"Unknown"	""	"moderate"	"<1y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153515"	"04312"	"00205321"	"00006"	"Unknown"	""	"severe"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153516"	"04312"	"00205322"	"00513"	"Unknown"	""	"severe"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153517"	"04312"	"00205323"	"00513"	"Unknown"	""	"mild"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153518"	"00000"	"00205324"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"-"	""
"0000153519"	"04312"	"00205325"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153520"	"04312"	"00205326"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"endplate acetylcholinesterase deficiency"	""
"0000153521"	"04312"	"00205327"	"00006"	"Unknown"	""	"mild"	"<1y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153522"	"04312"	"00205328"	"00513"	"Isolated (sporadic)"	""	"moderate; gross motor development delayed, poor facial mimics, repeated episodes acute respiratory distress, edrophonium test negative; 5y-climb stairs at hand"	"0d"	""	"ptosis, muscular weakness"	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153523"	"04312"	"00205329"	"00513"	"Isolated (sporadic)"	""	"severe; 2w-opened eyes; early infancy delayed gross motor development, muscular weakness, myopathic facies, external ophthalmoplegia, episodes of deteriorating muscular strength during febrile infections; 3y-died after developing fulminant sepsis and acute respiratory insufficiency"	"0d"	""	"ptosis, muscular weakness, difficulties pulmonary adaption"	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153524"	"04312"	"00205330"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153525"	"00198"	"00205331"	"00006"	"Unknown"	""	"repetitive CMAP in response single nerve stimulus"	""	""	""	""	""	""	""	""	""	"?"	""
"0000153526"	"04312"	"00205332"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153527"	"04312"	"00205333"	"00513"	"Unknown"	""	"mild"	"<1y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153528"	"04312"	"00205334"	"00006"	"Unknown"	""	"mild"	"6y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153529"	"04312"	"00205335"	"00006"	"Unknown"	""	"mild"	"<1y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153530"	"04312"	"00205336"	"00006"	"Unknown"	""	"mild"	"7y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153531"	"04312"	"00205337"	"00513"	"Isolated (sporadic)"	""	"moderate"	"<1y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153532"	"04312"	"00205338"	"00513"	"Unknown"	""	"mild"	"<1y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153533"	"04312"	"00205339"	"00006"	"Unknown"	""	"moderate"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153534"	"04312"	"00205340"	"00513"	"Unknown"	""	"severe"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153535"	"04312"	"00205341"	"00513"	"Unknown"	""	"severe"	"0d"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153536"	"04312"	"00205342"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153537"	"04312"	"00205343"	"00006"	"Unknown"	""	""	"0d"	""	"ptosis, intermittent squint, hypotonia, slow feeding"	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153538"	"00000"	"00205344"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"-"	""
"0000153539"	"00198"	"00205345"	"00513"	"Unknown"	""	"ptosis improved during childhood, still detectable in adulthood; 60y-ptosis worsened"	"0d"	""	"ptosis"	""	""	""	""	""	""	"ptosis"	""
"0000153540"	"00198"	"00205346"	"00513"	"Unknown"	""	"ptosis improved during childhood, still detectable in adulthood"	"0d"	""	"ptosis"	""	""	""	""	""	""	"ptosis"	""
"0000153541"	"04312"	"00205347"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153542"	"04312"	"00205348"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153543"	"04312"	"00205349"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153544"	"04312"	"00205350"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153545"	"04312"	"00205351"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153546"	"04312"	"00205352"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153547"	"04312"	"00205353"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153548"	"04312"	"00205354"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153549"	"04312"	"00205355"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153550"	"04312"	"00205356"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153551"	"04312"	"00205357"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153552"	"04312"	"00205358"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153553"	"04312"	"00205359"	"00464"	"Familial, autosomal recessive"	""	"muscle weakness of proximal distribution.  scoliosis. vent-dependent."	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153554"	"04312"	"00205360"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153555"	"04312"	"00205361"	"00464"	"Familial, autosomal recessive"	""	"bilateral ptosis, muscle weakness, delayed walking; Pat2/Pat7"	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153556"	"04312"	"00205362"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153557"	"04312"	"00205363"	"00536"	"Familial, autosomal recessive"	""	"walk 19m"	"0y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153558"	"04312"	"00205364"	"00536"	"Familial, autosomal recessive"	""	"walk 2y"	"0y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153559"	"04312"	"00205365"	"00536"	"Familial, autosomal recessive"	""	"walk 18m"	"3y"	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000153560"	"04312"	"00205366"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CMS-5"	"congenital myasthenic syndrome"	""
"0000156169"	"00198"	"00035420"	"01164"	"Unknown"	""	"suspected HMSN II , progressive sensory disturbances and weakness in legs,bilateral dorsal flexor disturbance since 3 years; currently prickling in fingertips and dysfunctional fine motor skills; MGZ#71993: suspected CMS, global developmental delay, muskular hypotonia, intermittend ptosis and dysfunktion of ocular movement, status post febrile convulsion"	""	""	""	""	""	""	""	""	""	"hereditary motor and sensory neuropathy?"	""
"0000156170"	"00198"	"00035422"	"01164"	"Unknown"	""	"suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156171"	"00198"	"00035425"	"01164"	"Unknown"	""	"suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156172"	"00198"	"00035426"	"01164"	"Unknown"	""	"suspected MDS; suspected defect of COLQ"	""	""	""	""	""	""	""	""	""	"MDS?"	""
"0000156173"	"00198"	"00035427"	"01164"	"Unknown"	""	"floppy infant, neonatal rez. apnea, critical apnea and myasthenia after temperature rise, transport and anesthesia; Arthrogryposis; family history: parents consanguine from Arabia"	""	""	""	""	""	""	""	""	""	"floppy infant"	""
"0000172204"	"00198"	"00228273"	"01807"	"Unknown"	""	"Fatigable weakness (HP:0003473); Muscular dystrophy (HP:0003560); Delayed speech and language development (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000239770"	"00198"	"00316025"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..., fetal reduced movements, breech presentation; birth moderate to severe congenital hypotonia, weak cry, thin muscle build, talipes, tube fed first 12 days, ongoing difficulties with suck during infancy but able to bottle feed; mild facial weakness, high arched palate, elongated face, neck flexion and axial weakness; limb weakness PUL ++, DUL +, PLL +++, DLL ++, weakest muscle groups neck flexors, axial muscles, hip extensors,  abductors; generalized muscle atrophy most marked in shoulders; 2y-oromotor difficulties resolved; 2y-hip, knee and Achilles tendon contractures; delayed motor milestones, walk2y9m, jump-3-4y, run-3-4y (slowly); childhood: frequent falls, positive Gowers’ sign, ongoing improvements in strength and motor skills over time14y-still ambulant (500 m) with slow waddling gait, 4y-uses splints, K-walker and manual wheelchair for longer distances; 3y9m-mild ophthalmoplegia (upgaze weakness) noted, large asymmetrical dolichocephalic head shape, frontal bossing, micrognathia; 2y-scoliosis, spinal rigidity; 12y-spinal fusion for scoliosis; 6y-BIPAP required, 13y10m FVC 0.44; pes planus childhood; height initially 50th percentile fell to 2–10th percentile 13y10m (in part due to scoliosis); hypermobility; mild asymmetrical pectus excavatum; 12y-short-lived episodic weakness during febrile illnesses, post-exercise and on hot days; 13y-activity-limiting increase in fatigability, fatigues quickly with walking and writing; improved strength endurance with regular oral salbutamol"	""	""	""	""	""	""	""	""	""	"congenital myopathy"	""
"0000292092"	"05618"	"00399004"	"00006"	"Unknown"	""	"muscle biopsy internal nuclei 0.80 fibers; proximal muscle weakness in upper and lower limbs"	"49y"	""	""	""	""	""	""	""	""	"centronuclear myopathy"	""
"0000292146"	"05618"	"00399058"	"00006"	"Unknown"	""	"serum CK <200 U/L; muscle biopsy fiber size variability; fatigability"	"18m"	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome"	""
"0000333192"	"02444"	"00443936"	"03652"	"Familial, autosomal recessive"	""	"HP:0000508 Ptosis\r\nHP:0003473 Fatigable weakness \r\nHP:0002643 Neonatal respiratory distress"	"0"	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 100
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000035488"	"00035418"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035489"	"00035419"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035490"	"00035420"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035491"	"00035421"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035492"	"00035422"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035493"	"00035423"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035494"	"00035424"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035495"	"00035425"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035496"	"00035426"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035497"	"00035427"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000080922"	"00080810"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081018"	"00080906"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081157"	"00081045"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000206321"	"00205291"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206322"	"00205292"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206323"	"00205293"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206324"	"00205294"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206325"	"00205295"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206326"	"00205296"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2012-03-09 19:02:28"	"SSCA;SEQ"	"DNA"	""	""
"0000206327"	"00205297"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000206328"	"00205298"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206329"	"00205299"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206330"	"00205300"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206331"	"00205301"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206332"	"00205302"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206333"	"00205303"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206334"	"00205304"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206335"	"00205305"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206336"	"00205306"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206337"	"00205307"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206338"	"00205308"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000206339"	"00205309"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206340"	"00205310"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206341"	"00205311"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206342"	"00205312"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206343"	"00205313"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206344"	"00205314"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206345"	"00205315"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206346"	"00205316"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206347"	"00205317"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206348"	"00205318"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206349"	"00205319"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206350"	"00205320"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206351"	"00205321"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206352"	"00205322"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206353"	"00205323"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206354"	"00205324"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206355"	"00205325"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206356"	"00205326"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206357"	"00205327"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206358"	"00205328"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000206359"	"00205329"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2012-03-09 18:55:42"	"SEQ"	"DNA"	""	""
"0000206360"	"00205330"	"1"	"00464"	"00006"	"2011-10-28 17:43:32"	"00006"	"2013-02-01 19:44:08"	"PCR;SEQ"	"DNA"	""	""
"0000206361"	"00205331"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206362"	"00205332"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000206363"	"00205333"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206364"	"00205334"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206365"	"00205335"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206366"	"00205336"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206367"	"00205337"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000206368"	"00205338"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206369"	"00205339"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206370"	"00205340"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206371"	"00205341"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206372"	"00205342"	"1"	"00006"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206373"	"00205343"	"1"	"00006"	"00006"	"2011-11-20 17:57:20"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206374"	"00205344"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206375"	"00205345"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206376"	"00205346"	"1"	"00513"	"00006"	"2011-02-13 11:32:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206377"	"00205347"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206378"	"00205348"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206379"	"00205349"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206380"	"00205350"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206381"	"00205351"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206382"	"00205352"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206383"	"00205353"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206384"	"00205354"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206385"	"00205355"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206386"	"00205356"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206387"	"00205357"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206388"	"00205358"	"1"	"00513"	"00006"	"2011-12-24 16:13:36"	"00006"	"2013-02-01 19:44:08"	"SEQ"	"DNA"	""	""
"0000206389"	"00205359"	"1"	"00464"	"00006"	"2012-05-23 20:07:07"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000206390"	"00205360"	"1"	"00464"	"00006"	"2012-05-30 18:30:36"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000206391"	"00205361"	"1"	"00464"	"00006"	"2012-10-17 15:18:05"	"00006"	"2012-11-20 21:31:45"	"PCR;SEQ"	"DNA"	""	""
"0000206392"	"00205362"	"1"	"00464"	"00006"	"2012-11-20 16:59:21"	"00006"	"2012-11-20 21:32:59"	"PCR;SEQ"	"DNA"	""	""
"0000206393"	"00205363"	"1"	"00536"	"00006"	"2013-03-04 13:10:44"	"00006"	"2013-03-05 08:52:30"	"SEQ"	"DNA"	""	""
"0000206394"	"00205364"	"1"	"00536"	"00006"	"2013-03-04 13:14:53"	"00006"	"2013-03-05 08:52:56"	"SEQ"	"DNA"	""	""
"0000206395"	"00205365"	"1"	"00536"	"00006"	"2013-03-04 13:23:13"	"00006"	"2013-03-05 08:50:41"	"SEQ"	"DNA"	""	""
"0000206396"	"00205366"	"1"	"00464"	"00006"	"2013-03-27 16:14:39"	"00006"	"2013-03-29 11:02:28"	"PCR;SEQ"	"DNA"	""	""
"0000229363"	"00228273"	"1"	"01807"	"01807"	"2019-03-22 15:04:50"	""	""	"SEQ"	"DNA"	""	""
"0000294419"	"00293251"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294420"	"00293252"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000315360"	"00314187"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000315361"	"00314188"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000317207"	"00316025"	"1"	"00006"	"00006"	"2020-11-01 16:34:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000400249"	"00399004"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000400303"	"00399058"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000407889"	"00406642"	"1"	"04292"	"04292"	"2022-04-03 14:05:29"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407900"	"00406653"	"1"	"04292"	"04292"	"2022-04-03 15:04:54"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000445433"	"00443936"	"1"	"03652"	"03652"	"2023-12-07 20:20:13"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	"gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 92
"{{screeningid}}"	"{{geneid}}"
"0000035488"	"COLQ"
"0000035489"	"COLQ"
"0000035490"	"COLQ"
"0000035491"	"COLQ"
"0000035492"	"COLQ"
"0000035493"	"COLQ"
"0000035494"	"COLQ"
"0000035495"	"COLQ"
"0000035496"	"COLQ"
"0000035497"	"COLQ"
"0000080922"	"COLQ"
"0000081018"	"COLQ"
"0000081157"	"COLQ"
"0000206321"	"COLQ"
"0000206322"	"COLQ"
"0000206323"	"COLQ"
"0000206324"	"COLQ"
"0000206325"	"COLQ"
"0000206326"	"COLQ"
"0000206327"	"COLQ"
"0000206328"	"COLQ"
"0000206329"	"COLQ"
"0000206330"	"COLQ"
"0000206331"	"COLQ"
"0000206332"	"COLQ"
"0000206333"	"COLQ"
"0000206334"	"COLQ"
"0000206335"	"COLQ"
"0000206336"	"COLQ"
"0000206337"	"COLQ"
"0000206338"	"COLQ"
"0000206339"	"COLQ"
"0000206340"	"COLQ"
"0000206341"	"COLQ"
"0000206342"	"COLQ"
"0000206343"	"COLQ"
"0000206344"	"COLQ"
"0000206345"	"COLQ"
"0000206346"	"COLQ"
"0000206347"	"COLQ"
"0000206348"	"COLQ"
"0000206349"	"COLQ"
"0000206350"	"COLQ"
"0000206351"	"COLQ"
"0000206352"	"COLQ"
"0000206353"	"COLQ"
"0000206354"	"COLQ"
"0000206355"	"COLQ"
"0000206356"	"COLQ"
"0000206357"	"COLQ"
"0000206358"	"COLQ"
"0000206359"	"COLQ"
"0000206360"	"COLQ"
"0000206361"	"COLQ"
"0000206362"	"COLQ"
"0000206363"	"COLQ"
"0000206364"	"COLQ"
"0000206365"	"COLQ"
"0000206366"	"COLQ"
"0000206367"	"COLQ"
"0000206368"	"COLQ"
"0000206369"	"COLQ"
"0000206370"	"COLQ"
"0000206371"	"COLQ"
"0000206372"	"COLQ"
"0000206373"	"COLQ"
"0000206374"	"COLQ"
"0000206375"	"COLQ"
"0000206376"	"COLQ"
"0000206377"	"COLQ"
"0000206378"	"COLQ"
"0000206379"	"COLQ"
"0000206380"	"COLQ"
"0000206381"	"COLQ"
"0000206382"	"COLQ"
"0000206383"	"COLQ"
"0000206384"	"COLQ"
"0000206385"	"COLQ"
"0000206386"	"COLQ"
"0000206387"	"COLQ"
"0000206388"	"COLQ"
"0000206389"	"COLQ"
"0000206390"	"COLQ"
"0000206391"	"COLQ"
"0000206392"	"COLQ"
"0000206393"	"COLQ"
"0000206394"	"COLQ"
"0000206395"	"COLQ"
"0000206396"	"COLQ"
"0000315360"	"COLQ"
"0000315361"	"COLQ"
"0000317207"	"SCN4A"


## 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 = 205
"{{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}}"
"0000062607"	"1"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"01164"	"COLQ_000002"	"g.15497522del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic"	""
"0000062608"	"1"	"10"	"3"	"15563015"	"15563016"	"dup"	"0"	"01164"	"COLQ_000067"	"g.15563015_15563016dup"	""	""	""	""	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.15521508_15521509dup"	""	"benign"	""
"0000062609"	"1"	"10"	"3"	"15530973"	"15530973"	"subst"	"0"	"01164"	"COLQ_000065"	"g.15530973C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489466C>T"	""	"benign"	""
"0000062610"	"1"	"50"	"3"	"15540148"	"15540148"	"subst"	"0"	"01164"	"COLQ_000066"	"g.15540148T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15498641T>G"	""	"VUS"	""
"0000062611"	"1"	"10"	"3"	"15495386"	"15495386"	"subst"	"0.0241303"	"01164"	"COLQ_000070"	"g.15495386G>A"	""	""	""	""	""	"Germline"	""	"rs55866379"	"0"	""	""	"g.15453879G>A"	""	"benign"	""
"0000062612"	"1"	"10"	"3"	"15499713"	"15499713"	"subst"	"0.0213032"	"01164"	"COLQ_000001"	"g.15499713T>C"	""	""	""	""	""	"Germline"	""	"rs6782980"	"0"	""	""	"g.15458206T>C"	""	"benign"	""
"0000062613"	"1"	"10"	"3"	"15563186"	"15563186"	"subst"	"0"	"01164"	"COLQ_000068"	"g.15563186T>G"	""	""	""	""	""	"Germline"	""	"rs58156300"	"0"	""	""	"g.15521679T>G"	""	"benign"	""
"0000062614"	"1"	"10"	"3"	"15529743"	"15529743"	"subst"	"0.00750762"	"01164"	"COLQ_000064"	"g.15529743C>T"	"frequencies 0,8 to 1,2%"	""	""	""	""	"Germline"	""	"rs115201284"	"0"	""	""	"g.15488236C>T"	""	"benign"	""
"0000062615"	"1"	"90"	"3"	"15515509"	"15515509"	"del"	"0"	"01164"	"COLQ_000063"	"g.15515509del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15474002del"	""	"pathogenic"	""
"0000062616"	"1"	"10"	"3"	"15563251"	"15563252"	"dup"	"0"	"01164"	"COLQ_000069"	"g.15563251_15563252dup"	""	""	""	""	""	"Germline"	""	"rs3836381"	"0"	""	""	"g.15521744_15521745dup"	""	"benign"	""
"0000130008"	"3"	"90"	"3"	"15507924"	"15507924"	"del"	"0"	"01758"	"COLQ_000032"	"g.15507924del"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15466417del"	""	"pathogenic"	"ACMG"
"0000130104"	"3"	"90"	"3"	"15495384"	"15495384"	"subst"	"0"	"01758"	"COLQ_000027"	"g.15495384C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453877C>T"	""	"pathogenic"	"ACMG"
"0000130243"	"3"	"70"	"3"	"15498088"	"15498088"	"subst"	"0"	"01758"	"COLQ_000072"	"g.15498088T>G"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15456581T>G"	""	"likely pathogenic"	"ACMG"
"0000267074"	"0"	"10"	"3"	"15515695"	"15515695"	"subst"	"0.426928"	"02325"	"COLQ_000075"	"g.15515695C>T"	""	""	""	"COLQ(NM_080538.2):c.570+40G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15474188C>T"	""	"benign"	""
"0000267075"	"0"	"10"	"3"	"15509327"	"15509327"	"subst"	"0"	"02325"	"COLQ_000074"	"g.15509327C>G"	""	""	""	"COLQ(NM_080538.2):c.688-1383G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15467820C>G"	""	"benign"	""
"0000270517"	"0"	"10"	"3"	"15520838"	"15520838"	"subst"	"0.0306858"	"02326"	"COLQ_000077"	"g.15520838T>C"	""	""	""	"COLQ(NM_005677.3):c.366+7A>G (p.(=)), COLQ(NM_080538.2):c.336+7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15479331T>C"	""	"benign"	""
"0000274315"	"0"	"50"	"3"	"15515762"	"15515762"	"subst"	"0"	"01943"	"COLQ_000076"	"g.15515762C>G"	""	""	""	"COLQ(NM_080538.2):c.543G>C (p.K181N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15474255C>G"	""	"VUS"	""
"0000329271"	"0"	"30"	"3"	"15495386"	"15495386"	"subst"	"0.0241303"	"01804"	"COLQ_000070"	"g.15495386G>A"	""	""	""	"COLQ(NM_005677.3):c.1248C>T (p.(Asp416=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15453879G>A"	""	"likely benign"	""
"0000329272"	"0"	"30"	"3"	"15529743"	"15529743"	"subst"	"0.00750762"	"01804"	"COLQ_000064"	"g.15529743C>T"	""	""	""	"COLQ(NM_005677.3):c.291G>A (p.(Ser97=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15488236C>T"	""	"likely benign"	""
"0000329273"	"0"	"30"	"3"	"15531163"	"15531163"	"subst"	"0.00168218"	"01804"	"COLQ_000078"	"g.15531163C>T"	""	""	""	"COLQ(NM_005677.3):c.107-19G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15489656C>T"	""	"likely benign"	""
"0000337279"	"0"	"10"	"3"	"15520838"	"15520838"	"subst"	"0.0306858"	"02327"	"COLQ_000077"	"g.15520838T>C"	""	""	""	"COLQ(NM_005677.3):c.366+7A>G (p.(=)), COLQ(NM_080538.2):c.336+7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15479331T>C"	""	"benign"	""
"0000337283"	"0"	"10"	"3"	"15563178"	"15563178"	"subst"	"0.106955"	"02327"	"COLQ_000042"	"g.15563178C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15521671C>T"	""	"benign"	""
"0000337284"	"0"	"10"	"3"	"15563253"	"15563253"	"subst"	"0"	"02327"	"COLQ_000082"	"g.15563253C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15521746C>T"	""	"benign"	""
"0000337285"	"0"	"10"	"3"	"15563255"	"15563255"	"subst"	"0"	"02327"	"COLQ_000083"	"g.15563255T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15521748T>C"	""	"benign"	""
"0000339489"	"0"	"10"	"3"	"15563268"	"15563268"	"subst"	"0"	"02327"	"COLQ_000084"	"g.15563268C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15521761C>G"	""	"benign"	""
"0000342611"	"0"	"90"	"3"	"15499704"	"15499704"	"subst"	"1.62443E-5"	"02327"	"COLQ_000008"	"g.15499704G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15458197G>A"	""	"pathogenic"	""
"0000344091"	"0"	"10"	"3"	"15495386"	"15495386"	"subst"	"0.0241303"	"02327"	"COLQ_000070"	"g.15495386G>A"	""	""	""	"COLQ(NM_005677.3):c.1248C>T (p.(Asp416=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15453879G>A"	""	"benign"	""
"0000348929"	"0"	"10"	"3"	"15499713"	"15499713"	"subst"	"0.0213032"	"02327"	"COLQ_000001"	"g.15499713T>C"	""	""	""	"COLQ(NM_005677.3):c.934A>G (p.(Ser312Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15458206T>C"	""	"benign"	""
"0000350731"	"0"	"50"	"3"	"15499689"	"15499689"	"subst"	"4.06101E-6"	"02327"	"COLQ_000079"	"g.15499689T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.15458182T>C"	""	"VUS"	""
"0000435797"	"11"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0005}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435798"	"21"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0005}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435799"	"11"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0005}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435800"	"21"	"90"	"3"	"15499803"	"15499803"	"subst"	"4.06085E-6"	"00006"	"COLQ_000006"	"g.15499803T>A"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0004}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15458296T>A"	""	"pathogenic (recessive)"	""
"0000435801"	"11"	"90"	"3"	"15512120"	"15512120"	"subst"	"2.03074E-5"	"00006"	"COLQ_000004"	"g.15512120C>A"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0002}"	"HphI-"	""	""	"Germline"	""	""	"0"	""	""	"g.15470613C>A"	""	"pathogenic (recessive)"	""
"0000435802"	"21"	"10"	"3"	"15563178"	"15563178"	"subst"	"0.106955"	"00006"	"COLQ_000042"	"g.15563178C>T"	""	"{PMID:Ohno 1998:09689136}"	"AciI-"	"-46G/A"	""	"Germline"	""	""	"0"	""	""	"g.15521671C>T"	""	"benign"	""
"0000435803"	"21"	"90"	"3"	"15529712"	"15531145"	"del"	"0"	"00006"	"COLQ_000007"	"g.(15520890_15529712)_(15531145_15563026)del"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0001}"	""	"107del215"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000435804"	"11"	"90"	"3"	"15507875"	"15507875"	"dup"	"0"	"00006"	"COLQ_000005"	"g.15507875dup"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0006}"	"AvaI+"	"788insC"	""	"Germline"	""	""	"0"	""	""	"g.15466368dup"	""	"pathogenic (recessive)"	""
"0000435805"	"21"	"90"	"3"	"15507875"	"15507875"	"dup"	"0"	"00006"	"COLQ_000005"	"g.15507875dup"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0006}"	"AvaI+"	"788insC"	""	"Germline"	""	""	"0"	""	""	"g.15466368dup"	""	"pathogenic (recessive)"	""
"0000435806"	"10"	"90"	"3"	"15516954"	"15516954"	"subst"	"4.4124E-6"	"00006"	"COLQ_000003"	"g.15516954G>C"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0003}"	"HphI+"	""	""	"Germline"	""	""	"0"	""	""	"g.15475447G>C"	""	"pathogenic (recessive)"	""
"0000435807"	"21"	"90"	"3"	"15516954"	"15516954"	"subst"	"4.4124E-6"	"00006"	"COLQ_000003"	"g.15516954G>C"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0003}"	"HphI+"	""	""	"Germline"	""	""	"0"	""	""	"g.15475447G>C"	""	"pathogenic (recessive)"	""
"0000435808"	"11"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Donger 1998:09758617}, {OMIM603033:0007}"	""	"1292A>C"	"mapped by linkage; not in 300 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435809"	"20"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Donger 1998:09758617}, {OMIM603033:0007}"	""	"1292A>C"	"mapped by linkage; not in 300 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435810"	"11"	"90"	"3"	"15507944"	"15507944"	"subst"	"4.11729E-6"	"00006"	"COLQ_000019"	"g.15507944C>A"	""	"{PMID:Shapira 2002:11865139}, {OMIM603033:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15466437C>A"	""	"pathogenic (recessive)"	""
"0000435811"	"21"	"90"	"3"	"15507944"	"15507944"	"subst"	"4.11729E-6"	"00006"	"COLQ_000019"	"g.15507944C>A"	""	"{PMID:Shapira 2002:11865139}, {OMIM603033:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15466437C>A"	""	"pathogenic (recessive)"	""
"0000435812"	"1"	"90"	"3"	"15498015"	"15498015"	"subst"	"8.1217E-6"	"00006"	"COLQ_000009"	"g.15498015G>C"	""	"{PMID:Ohno 2000:10665486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15456508G>C"	""	"pathogenic (recessive)"	""
"0000435813"	"2"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Ohno 2000:10665486}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435814"	"1"	"90"	"3"	"15497490"	"15497490"	"subst"	"0"	"00006"	"COLQ_000010"	"g.15497490G>A"	""	"{PMID:Ohno 2000:10665486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15455983G>A"	""	"pathogenic (recessive)"	""
"0000435815"	"2"	"90"	"3"	"15497405"	"15497405"	"subst"	"2.84541E-5"	"00006"	"COLQ_000020"	"g.15497405C>T"	""	"{PMID:Ohno 2000:10665486}"	""	"IVS15+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15455898C>T"	""	"pathogenic (recessive)"	""
"0000435816"	"1"	"90"	"3"	"15495405"	"15495405"	"subst"	"0"	"00006"	"COLQ_000011"	"g.15495405C>T"	""	"{PMID:Ohno 2000:10665486}"	""	"1219G>A"	""	"Germline"	""	""	"0"	""	""	"g.15453898C>T"	""	"pathogenic (recessive)"	""
"0000435817"	"2"	"90"	"3"	"15493188"	"15493188"	"subst"	"0"	"00006"	"COLQ_000012"	"g.15493188C>T"	""	"{PMID:Ohno 2000:10665486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451681C>T"	""	"pathogenic (recessive)"	""
"0000435818"	"11"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00513"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435819"	"11"	"90"	"3"	"15518731"	"15518731"	"subst"	"0.39613"	"00513"	"COLQ_000023"	"g.15518731G>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS5-27C>G"	""	"Germline"	""	""	"0"	""	""	"g.15477224G>C"	""	"pathogenic (recessive)"	""
"0000435820"	"11"	"90"	"3"	"15516481"	"15516481"	"subst"	"0.382801"	"00513"	"COLQ_000024"	"g.15516481T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS7-23A>G"	""	"Germline"	""	""	"0"	""	""	"g.15474974T>C"	""	"pathogenic (recessive)"	""
"0000435821"	"21"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00513"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435822"	"21"	"90"	"3"	"15518731"	"15518731"	"subst"	"0.39613"	"00513"	"COLQ_000023"	"g.15518731G>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS5-27C>G"	""	"Germline"	""	""	"0"	""	""	"g.15477224G>C"	""	"pathogenic (recessive)"	""
"0000435823"	"21"	"90"	"3"	"15516481"	"15516481"	"subst"	"0.382801"	"00513"	"COLQ_000024"	"g.15516481T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS7-23A>G"	""	"Germline"	""	""	"0"	""	""	"g.15474974T>C"	""	"pathogenic (recessive)"	""
"0000435824"	"1"	"90"	"3"	"15531075"	"15531075"	"subst"	"0"	"00006"	"COLQ_000013"	"g.15531075G>T"	""	"{PMID:Ohno 2000:10665486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489568G>T"	""	"pathogenic (recessive)"	""
"0000435825"	"2"	"90"	"3"	"15531075"	"15531075"	"subst"	"0"	"00006"	"COLQ_000013"	"g.15531075G>T"	""	"{PMID:Ohno 2000:10665486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489568G>T"	""	"pathogenic (recessive)"	""
"0000435826"	"10"	"90"	"3"	"15497405"	"15497405"	"subst"	"2.84541E-5"	"00006"	"COLQ_000020"	"g.15497405C>T"	""	"{PMID:Ohno 2000:10665486}"	""	"IVS15+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15455898C>T"	""	"pathogenic (recessive)"	""
"0000435827"	"21"	"90"	"3"	"15520503"	"15520503"	"del"	"0"	"00006"	"COLQ_000014"	"g.15520503del"	""	""	""	"375delT"	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.15478996del"	""	"pathogenic (recessive)"	""
"0000435828"	"1"	"90"	"3"	"15518654"	"15518654"	"subst"	"0"	"00006"	"COLQ_000015"	"g.15518654C>T"	""	"{PMID:Ohno 2000:10665486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15477147C>T"	""	"pathogenic (recessive)"	""
"0000435829"	"2"	"90"	"3"	"15518654"	"15518654"	"subst"	"0"	"00006"	"COLQ_000015"	"g.15518654C>T"	""	"{PMID:Ohno 2000:10665486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15477147C>T"	""	"pathogenic (recessive)"	""
"0000435830"	"1"	"90"	"3"	"15507861"	"15507861"	"dup"	"0"	"00006"	"COLQ_000016"	"g.15507861dup"	""	"{PMID:Ohno 2000:10665486}"	""	"806insC"	""	"Germline"	""	""	"0"	""	""	"g.15466354dup"	""	"pathogenic (recessive)"	""
"0000435831"	"2"	"90"	"3"	"15507861"	"15507861"	"dup"	"0"	"00006"	"COLQ_000016"	"g.15507861dup"	""	"{PMID:Ohno 2000:10665486}"	""	"806insC"	""	"Germline"	""	""	"0"	""	""	"g.15466354dup"	""	"pathogenic (recessive)"	""
"0000435832"	"11"	"90"	"3"	"15529762"	"15529762"	"dup"	"0"	"00006"	"COLQ_000017"	"g.15529762dup"	""	"{PMID:Shapira 2002:11865139}"	""	"275insC"	""	"Germline"	""	""	"0"	""	""	"g.15488255dup"	""	"pathogenic (recessive)"	""
"0000435833"	"21"	"90"	"3"	"15515512"	"15515512"	"subst"	"0"	"00006"	"COLQ_000018"	"g.15515512G>A"	""	"{PMID:Shapira 2002:11865139}, {OMIM603033:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15474005G>A"	""	"pathogenic (recessive)"	""
"0000435834"	"11"	"90"	"3"	"15512120"	"15512120"	"subst"	"2.03074E-5"	"00006"	"COLQ_000004"	"g.15512120C>A"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0002}"	"HphI-"	""	""	"Germline"	""	""	"0"	""	""	"g.15470613C>A"	""	"pathogenic (recessive)"	""
"0000435835"	"21"	"90"	"3"	"15512120"	"15512120"	"subst"	"2.03074E-5"	"00006"	"COLQ_000004"	"g.15512120C>A"	""	"{PMID:Ohno 1998:09689136}, {OMIM603033:0002}"	"HphI-"	""	""	"Germline"	""	""	"0"	""	""	"g.15470613C>A"	""	"pathogenic (recessive)"	""
"0000435836"	"11"	"90"	"3"	"15507944"	"15507944"	"subst"	"4.11729E-6"	"00006"	"COLQ_000019"	"g.15507944C>A"	""	"{PMID:Shapira 2002:11865139}, {OMIM603033:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15466437C>A"	""	"pathogenic (recessive)"	""
"0000435837"	"21"	"90"	"3"	"15507944"	"15507944"	"subst"	"4.11729E-6"	"00006"	"COLQ_000019"	"g.15507944C>A"	""	"{PMID:Shapira 2002:11865139}, {OMIM603033:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15466437C>A"	""	"pathogenic (recessive)"	""
"0000435838"	"11"	"30"	"3"	"15499713"	"15499713"	"subst"	"0.0213032"	"00006"	"COLQ_000001"	"g.15499713T>C"	""	"{PMID:Kimbell 2004:14702351}"	""	""	"not in 200 control chromosomes"	"Germline"	""	"rs6782980"	"0"	""	""	"g.15458206T>C"	""	"likely benign"	""
"0000435839"	"11"	"90"	"3"	"15495405"	"15495405"	"subst"	"0"	"00006"	"COLQ_000011"	"g.15495405C>T"	""	"{PMID:Kimbell 2004:14702351}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15453898C>T"	""	"pathogenic (recessive)"	""
"0000435840"	"21"	"90"	"3"	"15495390"	"15495390"	"subst"	"0"	"00006"	"COLQ_000021"	"g.15495390T>C"	""	"{PMID:Kimbell 2004:14702351}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15453883T>C"	""	"pathogenic (recessive)"	""
"0000435841"	"1"	"90"	"3"	"15495405"	"15495405"	"subst"	"0"	"00006"	"COLQ_000047"	"g.15495405C>G"	""	"{PMID:Kimbell 2004:14702351}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15453898C>G"	""	"pathogenic (recessive)"	""
"0000435842"	"2"	"90"	"3"	"15529712"	"15531145"	"del"	"0"	"00006"	"COLQ_000007"	"g.(15520890_15529712)_(15531145_15563026)del"	""	"{PMID:Kimbell 2004:14702351}"	""	"(107-?_321+?del)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000435843"	"10"	"90"	"3"	"15497490"	"15497490"	"subst"	"0"	"00006"	"COLQ_000010"	"g.15497490G>A"	""	"{PMID:Kimbell 2004:14702351}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15455983G>A"	""	"pathogenic (recessive)"	""
"0000435844"	"20"	"90"	"3"	"15497490"	"15497490"	"subst"	"0"	"00006"	"COLQ_000010"	"g.15497490G>A"	""	"{PMID:Kimbell 2004:14702351}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15455983G>A"	""	"pathogenic (recessive)"	""
"0000435845"	"11"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00513"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435846"	"11"	"90"	"3"	"15518731"	"15518731"	"subst"	"0.39613"	"00513"	"COLQ_000023"	"g.15518731G>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS5-27C>G"	""	"Germline"	""	""	"0"	""	""	"g.15477224G>C"	""	"pathogenic (recessive)"	""
"0000435847"	"11"	"90"	"3"	"15516481"	"15516481"	"subst"	"0.382801"	"00513"	"COLQ_000024"	"g.15516481T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS7-23A>G"	""	"Germline"	""	""	"0"	""	""	"g.15474974T>C"	""	"pathogenic (recessive)"	""
"0000435848"	"21"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00513"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435849"	"21"	"90"	"3"	"15518731"	"15518731"	"subst"	"0.39613"	"00513"	"COLQ_000023"	"g.15518731G>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS5-27C>G"	""	"Germline"	""	""	"0"	""	""	"g.15477224G>C"	""	"pathogenic (recessive)"	""
"0000435850"	"21"	"90"	"3"	"15516481"	"15516481"	"subst"	"0.382801"	"00513"	"COLQ_000024"	"g.15516481T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	"IVS7-23A>G"	""	"Germline"	""	""	"0"	""	""	"g.15474974T>C"	""	"pathogenic (recessive)"	""
"0000435851"	"11"	"90"	"3"	"15499698"	"15499698"	"del"	"0"	"00006"	"COLQ_000043"	"g.15499698del"	""	"{PMID:Schreiner 2007:17300939}"	""	"950delC"	""	"Germline"	""	""	"0"	""	""	"g.15458191del"	""	"pathogenic (recessive)"	""
"0000435852"	"21"	"90"	"3"	"15531145"	"15531145"	"subst"	"4.07784E-6"	"00006"	"COLQ_000025"	"g.15531145C>T"	""	"{PMID:Schreiner 2007:17300939}"	""	"IVS1-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15489638C>T"	""	"pathogenic (recessive)"	""
"0000435853"	"1"	"90"	"3"	"15498020"	"15498020"	"subst"	"0"	"00513"	"COLQ_000044"	"g.15498020T>C"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15456513T>C"	""	"pathogenic (recessive)"	""
"0000435854"	"2"	"90"	"3"	"15498020"	"15498020"	"subst"	"0"	"00513"	"COLQ_000044"	"g.15498020T>C"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15456513T>C"	""	"pathogenic (recessive)"	""
"0000435855"	"1"	"90"	"3"	"15531144"	"15531144"	"del"	"0"	"00513"	"COLQ_000045"	"g.15531144del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"109delC"	""	"Germline"	""	""	"0"	""	""	"g.15489637del"	""	"pathogenic (recessive)"	""
"0000435856"	"2"	"90"	"3"	"15493193"	"15493195"	"del"	"0"	"00513"	"COLQ_000028"	"g.15493193_15493195del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"1324delCAG"	""	"Germline"	""	""	"0"	""	""	"g.15451686_15451688del"	""	"pathogenic (recessive)"	""
"0000435857"	"1"	"90"	"3"	"15497444"	"15497444"	"subst"	"1.2192E-5"	"00513"	"COLQ_000026"	"g.15497444C>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15455937C>G"	""	"pathogenic (recessive)"	""
"0000435858"	"2"	"90"	"3"	"15518654"	"15518654"	"subst"	"0"	"00513"	"COLQ_000015"	"g.15518654C>T"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15477147C>T"	""	"pathogenic (recessive)"	""
"0000435859"	"1"	"90"	"3"	"15495384"	"15495384"	"subst"	"0"	"00513"	"COLQ_000027"	"g.15495384C>T"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15453877C>T"	""	"pathogenic (recessive)"	""
"0000435860"	"2"	"90"	"3"	"15495384"	"15495384"	"subst"	"0"	"00513"	"COLQ_000027"	"g.15495384C>T"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15453877C>T"	""	"pathogenic (recessive)"	""
"0000435861"	"1"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00513"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435862"	"2"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00513"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435863"	"1"	"90"	"3"	"15531095"	"15531095"	"dup"	"0"	"00006"	"COLQ_000029"	"g.15531095dup"	""	"{PMID:Mihaylova 2008:18180250}"	""	"158insC"	""	"Germline"	""	""	"0"	""	""	"g.15489588dup"	""	"pathogenic (recessive)"	""
"0000435864"	"2"	"90"	"3"	"15531095"	"15531095"	"dup"	"0"	"00006"	"COLQ_000029"	"g.15531095dup"	""	"{PMID:Mihaylova 2008:18180250}"	""	"158insC"	""	"Germline"	""	""	"0"	""	""	"g.15489588dup"	""	"pathogenic (recessive)"	""
"0000435865"	"1"	"90"	"3"	"15512081"	"15512081"	"subst"	"4.06105E-6"	"00513"	"COLQ_000030"	"g.15512081G>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470574G>A"	""	"pathogenic (recessive)"	""
"0000435866"	"2"	"90"	"3"	"15512081"	"15512081"	"subst"	"4.06105E-6"	"00513"	"COLQ_000030"	"g.15512081G>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470574G>A"	""	"pathogenic (recessive)"	""
"0000435867"	"1"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435868"	"2"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435869"	"1"	"90"	"3"	"15507924"	"15507924"	"del"	"0"	"00513"	"COLQ_000032"	"g.15507924del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"738delA"	""	"Germline"	""	""	"0"	""	""	"g.15466417del"	""	"pathogenic (recessive)"	""
"0000435870"	"2"	"90"	"3"	"15507924"	"15507924"	"del"	"0"	"00513"	"COLQ_000032"	"g.15507924del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"738delA"	""	"Germline"	""	""	"0"	""	""	"g.15466417del"	""	"pathogenic (recessive)"	""
"0000435871"	"1"	"90"	"3"	"15507869"	"15507869"	"dup"	"0"	"00513"	"COLQ_000033"	"g.15507869dup"	""	"{PMID:Mihaylova 2008:18180250}"	""	"797insC"	""	"Germline"	""	""	"0"	""	""	"g.15466362dup"	""	"pathogenic (recessive)"	""
"0000435872"	"2"	"90"	"3"	"15512050"	"15512050"	"subst"	"4.06078E-6"	"00513"	"COLQ_000031"	"g.15512050C>T"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15470543C>T"	""	"pathogenic (recessive)"	""
"0000435873"	"1"	"10"	"3"	"15499713"	"15499713"	"subst"	"0.0213032"	"00006"	"COLQ_000001"	"g.15499713T>C"	""	"{PMID:Schreiner 2007:17300939}"	""	""	""	"Germline"	""	"rs6782980"	"0"	""	""	"g.15458206T>C"	""	"benign"	""
"0000435874"	"10"	"90"	"3"	"15499704"	"15499704"	"subst"	"1.62443E-5"	"00006"	"COLQ_000008"	"g.15499704G>A"	""	"{PMID:Ohno 1999:10441569}, {OMIM603033:0008}"	"AciI-"	""	""	"Germline"	""	""	"0"	""	""	"g.15458197G>A"	""	"pathogenic (recessive)"	""
"0000435875"	"21"	"90"	"3"	"15495333"	"15495333"	"subst"	"4.22779E-6"	"00006"	"COLQ_000034"	"g.15495333T>C"	""	"{PMID:Ohno 1999:10441569}, {OMIM603033:0009}"	""	"IVS16+3A>G"	"not in 200 control chromosomes; in vitro cloning expression shows exon 16 skipping"	"Germline"	""	""	"0"	""	""	"g.15453826T>C"	""	"pathogenic (recessive)"	""
"0000435876"	"10"	"90"	"3"	"15507944"	"15507944"	"subst"	"4.11729E-6"	"00006"	"COLQ_000019"	"g.15507944C>A"	""	"{PMID:Shapira 2002:11865139}, {OMIM603033:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15466437C>A"	""	"pathogenic (recessive)"	""
"0000435877"	"20"	"90"	"3"	"15507944"	"15507944"	"subst"	"4.11729E-6"	"00006"	"COLQ_000019"	"g.15507944C>A"	""	"{PMID:Shapira 2002:11865139}, {OMIM603033:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15466437C>A"	""	"pathogenic (recessive)"	""
"0000435878"	"1"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435879"	"2"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435880"	"1"	"90"	"3"	"15531145"	"15531145"	"subst"	"4.07784E-6"	"00513"	"COLQ_000025"	"g.15531145C>T"	""	"{PMID:Schreiner 2007:17300939}, {PMID:Mihaylova 2008:18180250}"	""	"IVS1-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15489638C>T"	""	"pathogenic (recessive)"	""
"0000435881"	"2"	"90"	"3"	"15499698"	"15499698"	"del"	"0"	"00513"	"COLQ_000043"	"g.15499698del"	""	"{PMID:Schreiner 2007:17300939}, {PMID:Mihaylova 2008:18180250}"	""	"950delC"	""	"Germline"	""	""	"0"	""	""	"g.15458191del"	""	"pathogenic (recessive)"	""
"0000435882"	"1"	"90"	"3"	"15531145"	"15531145"	"subst"	"4.07784E-6"	"00513"	"COLQ_000025"	"g.15531145C>T"	""	"{PMID:Schreiner 2007:17300939}, {PMID:Mihaylova 2008:18180250}"	""	"IVS1-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15489638C>T"	""	"pathogenic (recessive)"	""
"0000435883"	"2"	"90"	"3"	"15499698"	"15499698"	"del"	"0"	"00513"	"COLQ_000043"	"g.15499698del"	""	"{PMID:Schreiner 2007:17300939}, {PMID:Mihaylova 2008:18180250}"	""	"950delC"	""	"Germline"	""	""	"0"	""	""	"g.15458191del"	""	"pathogenic (recessive)"	""
"0000435884"	"1"	"70"	"3"	"15507941"	"15507941"	"del"	"0"	"00464"	"COLQ_000035"	"g.15507941del"	""	""	""	"721delC"	""	"Germline"	""	""	"0"	""	""	"g.15466434del"	""	"likely pathogenic (recessive)"	""
"0000435885"	"2"	"70"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-6"	"00464"	"COLQ_000036"	"g.15495345T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>C"	""	"likely pathogenic (recessive)"	""
"0000435886"	"1"	"90"	"3"	"15520503"	"15520503"	"del"	"0"	"00006"	"COLQ_000014"	"g.15520503del"	""	"{PMID:Ohno 2000:10665486}"	""	"375delT"	"no variants 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.15478996del"	""	"pathogenic (recessive)"	""
"0000435887"	"0"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00006"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435888"	"0"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00006"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Muller 2004:15248101}, {PMID:Mihaylova 2008:18180250}"	""	""	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435889"	"1"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00513"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435890"	"2"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00513"	"COLQ_000022"	"g.15493198T>C"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435891"	"1"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435892"	"1"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435893"	"1"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435894"	"2"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435895"	"1"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435896"	"2"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000435897"	"1"	"90"	"3"	"15531031"	"15531031"	"subst"	"1.62454E-5"	"00513"	"COLQ_000037"	"g.15531031C>G"	""	"{PMID:Mihaylova 2008:18180250}, {PMID:Mihaylova 2010:20562457}"	""	"IVS2+1G>C"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15489524C>G"	""	"pathogenic (recessive)"	""
"0000435898"	"2"	"90"	"3"	"15531031"	"15531031"	"subst"	"1.62454E-5"	"00513"	"COLQ_000037"	"g.15531031C>G"	""	"{PMID:Mihaylova 2008:18180250}, {PMID:Mihaylova 2010:20562457}"	""	"IVS2+1G>C"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.15489524C>G"	""	"pathogenic (recessive)"	""
"0000435899"	"1"	"90"	"3"	"15512081"	"15512081"	"subst"	"4.06105E-6"	"00513"	"COLQ_000030"	"g.15512081G>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470574G>A"	""	"pathogenic (recessive)"	""
"0000435900"	"2"	"90"	"3"	"15512081"	"15512081"	"subst"	"4.06105E-6"	"00513"	"COLQ_000030"	"g.15512081G>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470574G>A"	""	"pathogenic (recessive)"	""
"0000435901"	"1"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435902"	"2"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	""	"{PMID:Mihaylova 2008:18180250}"	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435903"	"1"	"90"	"3"	"15512054"	"15512054"	"subst"	"1.21823E-5"	"00513"	"COLQ_000046"	"g.15512054G>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470547G>A"	""	"pathogenic (recessive)"	""
"0000435904"	"2"	"90"	"3"	"15512054"	"15512054"	"subst"	"1.21823E-5"	"00513"	"COLQ_000046"	"g.15512054G>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470547G>A"	""	"pathogenic (recessive)"	""
"0000435905"	"1"	"90"	"3"	"15515512"	"15515512"	"subst"	"0"	"00513"	"COLQ_000018"	"g.15515512G>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15474005G>A"	""	"pathogenic (recessive)"	""
"0000435906"	"2"	"90"	"3"	"15497405"	"15497405"	"subst"	"0"	"00513"	"COLQ_000038"	"g.15497405C>A"	""	"{PMID:Mihaylova 2008:18180250}"	""	"IVS15+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.15455898C>A"	""	"pathogenic (recessive)"	""
"0000435907"	"11"	"90"	"3"	"15499698"	"15499698"	"del"	"0"	"00006"	"COLQ_000043"	"g.15499698del"	""	"{PMID:Schreiner 2007:17300939}"	""	"950delC"	""	"Germline"	""	""	"0"	""	""	"g.15458191del"	""	"pathogenic (recessive)"	""
"0000435908"	"21"	"90"	"3"	"15531145"	"15531145"	"subst"	"4.07784E-6"	"00006"	"COLQ_000025"	"g.15531145C>T"	""	"{PMID:Schreiner 2007:17300939}"	""	"IVS1-1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15489638C>T"	""	"pathogenic (recessive)"	""
"0000435909"	"1"	"90"	"3"	"15520513"	"15520513"	"subst"	"0"	"00006"	"COLQ_000039"	"g.15520513A>C"	""	"{PMID:Yueng 2010:20370815}"	""	"IVS4-3T>G"	""	"Germline"	""	""	"0"	""	""	"g.15479006A>C"	""	"pathogenic (recessive)"	""
"0000435910"	"2"	"90"	"3"	"15520483"	"15520483"	"subst"	"4.06336E-6"	"00006"	"COLQ_000040"	"g.15520483C>T"	""	"{PMID:Yueng 2010:20370815}"	""	"IVS5+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15478976C>T"	""	"pathogenic (recessive)"	""
"0000435911"	"1"	"90"	"3"	"15531145"	"15531145"	"subst"	"4.07784E-6"	"00513"	"COLQ_000025"	"g.15531145C>T"	""	"{PMID:Schreiner 2007:17300939}"	""	"IVS1-1G>A"	"no variants 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.15489638C>T"	""	"pathogenic (recessive)"	""
"0000435912"	"1"	"90"	"3"	"15499698"	"15499698"	"del"	"0"	"00513"	"COLQ_000043"	"g.15499698del"	""	"{PMID:Schreiner 2007:17300939}"	""	"950delC"	"no variants 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.15458191del"	""	"pathogenic (recessive)"	""
"0000435913"	"1"	"90"	"3"	"15499698"	"15499698"	"del"	"0"	"00513"	"COLQ_000043"	"g.15499698del"	""	"{PMID:Schreiner 2007:17300939}"	""	"950delC"	"no variants 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.15458191del"	""	"pathogenic (recessive)"	""
"0000435914"	"1"	"90"	"3"	"15531092"	"15531093"	"ins"	"0"	"00513"	"COLQ_000052"	"g.15531092_15531093insG"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489585_15489586insG"	""	"pathogenic (recessive)"	""
"0000435915"	"2"	"90"	"3"	"15531092"	"15531093"	"ins"	"0"	"00513"	"COLQ_000052"	"g.15531092_15531093insG"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489585_15489586insG"	""	"pathogenic (recessive)"	""
"0000435916"	"1"	"90"	"3"	"15531092"	"15531093"	"ins"	"0"	"00513"	"COLQ_000052"	"g.15531092_15531093insG"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489585_15489586insG"	""	"pathogenic (recessive)"	""
"0000435917"	"2"	"90"	"3"	"15515512"	"15515512"	"subst"	"0"	"00513"	"COLQ_000018"	"g.15515512G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15474005G>A"	""	"pathogenic (recessive)"	""
"0000435918"	"1"	"90"	"3"	"15529755"	"15529755"	"subst"	"0"	"00513"	"COLQ_000053"	"g.15529755G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15488248G>T"	""	"pathogenic (recessive)"	""
"0000435919"	"2"	"90"	"3"	"15529755"	"15529755"	"subst"	"0"	"00513"	"COLQ_000053"	"g.15529755G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15488248G>T"	""	"pathogenic (recessive)"	""
"0000435920"	"1"	"90"	"3"	"15497490"	"15497490"	"subst"	"0"	"00513"	"COLQ_000010"	"g.15497490G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15455983G>A"	""	"pathogenic (recessive)"	""
"0000435921"	"2"	"90"	"3"	"15520874"	"15520874"	"del"	"0"	"00513"	"COLQ_000054"	"g.15520874del"	""	""	""	"338delC"	""	"Germline"	""	""	"0"	""	""	"g.15479367del"	""	"pathogenic (recessive)"	""
"0000435922"	"1"	"90"	"3"	"15520501"	"15520501"	"del"	"0"	"00513"	"COLQ_000055"	"g.15520501del"	""	""	""	"377delG"	""	"Germline"	""	""	"0"	""	""	"g.15478994del"	""	"pathogenic (recessive)"	""
"0000435923"	"2"	"90"	"3"	"15497405"	"15497405"	"subst"	"2.84541E-5"	"00513"	"COLQ_000020"	"g.15497405C>T"	""	""	""	"IVS15+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.15455898C>T"	""	"pathogenic (recessive)"	""
"0000435924"	"1"	"90"	"3"	"15518654"	"15518654"	"subst"	"0"	"00513"	"COLQ_000015"	"g.15518654C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15477147C>T"	""	"pathogenic (recessive)"	""
"0000435925"	"2"	"90"	"3"	"15518654"	"15518654"	"subst"	"0"	"00513"	"COLQ_000015"	"g.15518654C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15477147C>T"	""	"pathogenic (recessive)"	""
"0000435926"	"1"	"90"	"3"	"15515512"	"15515512"	"subst"	"0"	"00513"	"COLQ_000018"	"g.15515512G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15474005G>A"	""	"pathogenic (recessive)"	""
"0000435927"	"2"	"90"	"3"	"15515512"	"15515512"	"subst"	"0"	"00513"	"COLQ_000018"	"g.15515512G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15474005G>A"	""	"pathogenic (recessive)"	""
"0000435928"	"1"	"90"	"3"	"15499755"	"15499755"	"del"	"0"	"00513"	"COLQ_000048"	"g.15499755del"	""	""	""	"893delA"	""	"Germline"	""	""	"0"	""	""	"g.15458248del"	""	"pathogenic (recessive)"	""
"0000435929"	"2"	"90"	"3"	"15499755"	"15499755"	"del"	"0"	"00513"	"COLQ_000048"	"g.15499755del"	""	""	""	"893delA"	""	"Germline"	""	""	"0"	""	""	"g.15458248del"	""	"pathogenic (recessive)"	""
"0000435930"	"1"	"90"	"3"	"15499704"	"15499704"	"subst"	"1.62443E-5"	"00513"	"COLQ_000008"	"g.15499704G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15458197G>A"	""	"pathogenic (recessive)"	""
"0000435931"	"2"	"90"	"3"	"15499704"	"15499704"	"subst"	"1.62443E-5"	"00513"	"COLQ_000008"	"g.15499704G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15458197G>A"	""	"pathogenic (recessive)"	""
"0000435932"	"1"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00513"	"COLQ_000002"	"g.15497522del"	""	""	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435933"	"2"	"90"	"3"	"15497522"	"15497522"	"del"	"0"	"00513"	"COLQ_000002"	"g.15497522del"	""	""	""	"1082delC"	""	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"pathogenic (recessive)"	""
"0000435934"	"1"	"90"	"3"	"15495377"	"15495377"	"del"	"0"	"00513"	"COLQ_000050"	"g.15495377del"	""	""	""	"1257delC"	""	"Germline"	""	""	"0"	""	""	"g.15453870del"	""	"pathogenic (recessive)"	""
"0000435935"	"2"	"90"	"3"	"15495377"	"15495377"	"del"	"0"	"00513"	"COLQ_000050"	"g.15495377del"	""	""	""	"1257delC"	""	"Germline"	""	""	"0"	""	""	"g.15453870del"	""	"pathogenic (recessive)"	""
"0000435936"	"1"	"90"	"3"	"15493201"	"15493201"	"subst"	"0"	"00513"	"COLQ_000051"	"g.15493201A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451694A>G"	""	"pathogenic (recessive)"	""
"0000435937"	"2"	"90"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00513"	"COLQ_000022"	"g.15493198T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"pathogenic (recessive)"	""
"0000435938"	"3"	"70"	"3"	"15531030"	"15531030"	"subst"	"0"	"00464"	"COLQ_000056"	"g.15531030A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489523A>C"	""	"likely pathogenic (recessive)"	""
"0000435939"	"3"	"90"	"3"	"15531031"	"15531031"	"subst"	"1.62454E-5"	"00464"	"COLQ_000037"	"g.15531031C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.15489524C>G"	""	"pathogenic (recessive)"	""
"0000435940"	"3"	"70"	"3"	"15498031"	"15498031"	"subst"	"0"	"00464"	"COLQ_000057"	"g.15498031A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15456524A>G"	""	"likely pathogenic (recessive)"	""
"0000435941"	"3"	"90"	"3"	"15495384"	"15495384"	"subst"	"0"	"00464"	"COLQ_000027"	"g.15495384C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453877C>T"	""	"pathogenic (recessive)"	""
"0000435942"	"11"	"50"	"3"	"15498076"	"15498076"	"subst"	"0"	"00536"	"COLQ_000058"	"g.15498076A>T"	""	"{PMID:Nakata 2013:23553736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15456569A>T"	""	"VUS"	""
"0000435943"	"21"	"50"	"3"	"15512081"	"15512081"	"subst"	"4.06105E-6"	"00536"	"COLQ_000030"	"g.15512081G>A"	""	"{PMID:Nakata 2013:23553736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470574G>A"	""	"VUS"	""
"0000435944"	"3"	"50"	"3"	"15493180"	"15493180"	"subst"	"0"	"00536"	"COLQ_000059"	"g.15493180C>G"	""	"{PMID:Nakata 2013:23553736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451673C>G"	""	"VUS"	""
"0000435945"	"0"	"50"	"3"	"15493188"	"15493188"	"subst"	"0"	"00536"	"COLQ_000012"	"g.15493188C>T"	""	"{PMID:Nakata 2013:23553736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451681C>T"	""	"VUS"	""
"0000435946"	"0"	"50"	"3"	"15493165"	"15493165"	"subst"	"1.62493E-5"	"00536"	"COLQ_000060"	"g.15493165G>A"	""	"{PMID:Nakata 2013:23553736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15451658G>A"	""	"VUS"	""
"0000435947"	"3"	"70"	"3"	"15531031"	"15531031"	"subst"	"1.62454E-5"	"00464"	"COLQ_000037"	"g.15531031C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489524C>G"	""	"likely pathogenic (recessive)"	""
"0000470544"	"3"	"90"	"3"	"15518654"	"15518654"	"subst"	"0"	"01807"	"COLQ_000015"	"g.15518654C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.15477147C>T"	""	"pathogenic"	""
"0000518343"	"0"	"30"	"3"	"15497520"	"15497520"	"subst"	"0.000992088"	"01804"	"COLQ_000085"	"g.15497520G>A"	""	""	""	"COLQ(NM_005677.3):c.1081C>T (p.(Pro361Ser)), COLQ(NM_080538.2):c.1051C>T (p.P351S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15456013G>A"	""	"likely benign"	""
"0000518344"	"0"	"30"	"3"	"15499713"	"15499713"	"subst"	"0.0213032"	"01804"	"COLQ_000001"	"g.15499713T>C"	""	""	""	"COLQ(NM_005677.3):c.934A>G (p.(Ser312Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15458206T>C"	""	"likely benign"	""
"0000518345"	"0"	"50"	"3"	"15507925"	"15507925"	"subst"	"0.000329318"	"01804"	"COLQ_000086"	"g.15507925C>G"	""	""	""	"COLQ(NM_005677.3):c.737G>C (p.(Gly246Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15466418C>G"	""	"VUS"	""
"0000518346"	"0"	"50"	"3"	"15512110"	"15512110"	"subst"	"0"	"02327"	"COLQ_000087"	"g.15512110G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15470603G>C"	""	"VUS"	""
"0000518357"	"0"	"30"	"3"	"15563021"	"15563021"	"subst"	"0.000995118"	"01804"	"COLQ_000088"	"g.15563021A>G"	""	""	""	"COLQ(NM_005677.3):c.106+6T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15521514A>G"	""	"likely benign"	""
"0000608386"	"0"	"50"	"3"	"15493173"	"15493173"	"subst"	"1.62508E-5"	"01804"	"COLQ_000089"	"g.15493173G>A"	""	""	""	"COLQ(NM_005677.3):c.1346C>T (p.(Thr449Met)), COLQ(NM_080538.2):c.1316C>T (p.T439M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15451666G>A"	""	"VUS"	""
"0000608387"	"0"	"50"	"3"	"15493173"	"15493173"	"subst"	"1.62508E-5"	"02325"	"COLQ_000089"	"g.15493173G>A"	""	""	""	"COLQ(NM_005677.3):c.1346C>T (p.(Thr449Met)), COLQ(NM_080538.2):c.1316C>T (p.T439M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.15451666G>A"	""	"VUS"	""
"0000651108"	"1"	"50"	"3"	"15497520"	"15497520"	"subst"	"0.000992088"	"03575"	"COLQ_000085"	"g.15497520G>A"	"13/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; {DB:CLININrs116828761}"	"Germline"	""	"rs116828761"	"0"	""	""	"g.15456013G>A"	""	"VUS"	""
"0000651109"	"1"	"50"	"3"	"15507877"	"15507877"	"subst"	"4.94927E-5"	"03575"	"COLQ_000090"	"g.15507877C>T"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs201158622}"	"Germline"	""	"rs201158622"	"0"	""	""	"g.15466370C>T"	""	"VUS"	""
"0000697449"	"0"	"70"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"00006"	"COLQ_000022"	"g.15493198T>C"	"2/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.15451691T>C"	""	"likely pathogenic"	""
"0000697450"	"0"	"70"	"3"	"15497522"	"15497522"	"del"	"0"	"00006"	"COLQ_000002"	"g.15497522del"	"2/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.15456015del"	""	"likely pathogenic"	""
"0000699706"	"0"	"50"	"3"	"15520497"	"15520497"	"subst"	"0"	"00006"	"COLQ_000091"	"g.15520497C>A"	""	"{PMID:Zaharieva 2016:26700687}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000833056"	"3"	"90"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	"rs121908923"	"0"	""	""	"g.15453838T>G"	""	"pathogenic (recessive)"	""
"0000833110"	"1"	"70"	"3"	"15512120"	"15512120"	"subst"	"2.03074E-5"	"00006"	"COLQ_000004"	"g.15512120C>A"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15470613C>A"	""	"likely pathogenic"	""
"0000833185"	"2"	"70"	"3"	"15495345"	"15495345"	"subst"	"4.16247E-5"	"00006"	"COLQ_000041"	"g.15495345T>G"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.15453838T>G"	""	"likely pathogenic"	""
"0000844712"	"0"	"70"	"3"	"15498076"	"15498076"	"subst"	"0"	"04292"	"COLQ_000092"	"g.15498076A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000844713"	"0"	"70"	"3"	"15498015"	"15498015"	"subst"	"8.1217E-6"	"04292"	"COLQ_000009"	"g.15498015G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000844729"	"3"	"90"	"3"	"15499704"	"15499704"	"subst"	"1.62443E-5"	"04292"	"COLQ_000008"	"g.15499704G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000858844"	"0"	"30"	"3"	"15520838"	"15520838"	"subst"	"0.0306858"	"01804"	"COLQ_000077"	"g.15520838T>C"	""	""	""	"COLQ(NM_005677.3):c.366+7A>G (p.(=)), COLQ(NM_080538.2):c.336+7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948061"	"0"	"70"	"3"	"15493198"	"15493198"	"subst"	"3.25253E-5"	"02329"	"COLQ_000022"	"g.15493198T>C"	""	""	""	"COLQ(NM_005677.4):c.1321A>G (p.T441A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000952446"	"3"	"90"	"3"	"15531095"	"15531095"	"dup"	"0"	"03652"	"COLQ_000029"	"g.15531095dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.15489588dup"	""	"pathogenic (recessive)"	"ACMG"
"0000975634"	"0"	"30"	"3"	"15497520"	"15497520"	"subst"	"0.000992088"	"02326"	"COLQ_000085"	"g.15497520G>A"	""	""	""	"COLQ(NM_005677.3):c.1081C>T (p.(Pro361Ser)), COLQ(NM_080538.2):c.1051C>T (p.P351S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001013834"	"0"	"30"	"3"	"15529734"	"15529734"	"subst"	"0.000752575"	"01804"	"COLQ_000093"	"g.15529734G>A"	""	""	""	"COLQ(NM_005677.3):c.300C>T (p.(Ser100=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033767"	"0"	"50"	"3"	"15516467"	"15516467"	"subst"	"0"	"01804"	"COLQ_000094"	"g.15516467A>G"	""	""	""	"COLQ(NM_005677.4):c.529-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes COLQ
## Count = 205
"{{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}}"
"0000062607"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	""
"0000062608"	"00005508"	"10"	"76"	"41"	"76"	"42"	"c.76+41_76+42dup"	"r.(=)"	"p.(=)"	""
"0000062609"	"00005508"	"10"	"219"	"59"	"219"	"59"	"c.219+59G>A"	"r.(=)"	"p.(=)"	""
"0000062610"	"00005508"	"50"	"107"	"-9004"	"107"	"-9004"	"c.107-9004A>C"	"r.(=)"	"p.(=)"	""
"0000062611"	"00005508"	"10"	"1248"	"0"	"1248"	"0"	"c.1248C>T"	"r.(=)"	"p.(=)"	""
"0000062612"	"00005508"	"10"	"934"	"0"	"934"	"0"	"c.934A>G"	"r.(?)"	"p.(Ser312Gly)"	""
"0000062613"	"00005508"	"10"	"-54"	"0"	"-54"	"0"	"c.-54A>C"	"r.(=)"	"p.(=)"	""
"0000062614"	"00005508"	"10"	"291"	"0"	"291"	"0"	"c.291G>A"	"r.(=)"	"p.(=)"	""
"0000062615"	"00005508"	"90"	"636"	"0"	"636"	"0"	"c.636del"	"r.(?)"	"p.(Gly213Valfs*11)"	""
"0000062616"	"00005508"	"10"	"-106"	"0"	"-105"	"0"	"c.-106_-105dup"	"r.(=)"	"p.(=)"	""
"0000130008"	"00005508"	"90"	"738"	"0"	"738"	"0"	"c.738del"	"r.(?)"	"p.(Val247Leufs*29)"	""
"0000130104"	"00005508"	"90"	"1250"	"0"	"1250"	"0"	"c.1250G>A"	"r.(?)"	"p.(Cys417Tyr)"	""
"0000130243"	"00005508"	"70"	"955"	"-2"	"955"	"-2"	"c.955-2A>C"	"r.spl?"	"p.?"	""
"0000267074"	"00005508"	"10"	"600"	"40"	"600"	"40"	"c.600+40G>A"	"r.(=)"	"p.(=)"	""
"0000267075"	"00005508"	"10"	"718"	"-1383"	"718"	"-1383"	"c.718-1383G>C"	"r.(=)"	"p.(=)"	""
"0000270517"	"00005508"	"10"	"366"	"7"	"366"	"7"	"c.366+7A>G"	"r.(=)"	"p.(=)"	""
"0000274315"	"00005508"	"50"	"573"	"0"	"573"	"0"	"c.573G>C"	"r.(?)"	"p.(Lys191Asn)"	""
"0000329271"	"00005508"	"30"	"1248"	"0"	"1248"	"0"	"c.1248C>T"	"r.(?)"	"p.(Asp416=)"	""
"0000329272"	"00005508"	"30"	"291"	"0"	"291"	"0"	"c.291G>A"	"r.(?)"	"p.(Ser97=)"	""
"0000329273"	"00005508"	"30"	"107"	"-19"	"107"	"-19"	"c.107-19G>A"	"r.(=)"	"p.(=)"	""
"0000337279"	"00005508"	"10"	"366"	"7"	"366"	"7"	"c.366+7A>G"	"r.(=)"	"p.(=)"	""
"0000337283"	"00005508"	"10"	"-46"	"0"	"-46"	"0"	"c.-46G>A"	"r.(?)"	"p.(=)"	""
"0000337284"	"00005508"	"10"	"-121"	"0"	"-121"	"0"	"c.-121G>A"	"r.(?)"	"p.(=)"	""
"0000337285"	"00005508"	"10"	"-123"	"0"	"-123"	"0"	"c.-123A>G"	"r.(?)"	"p.(=)"	""
"0000339489"	"00005508"	"10"	"-136"	"0"	"-136"	"0"	"c.-136G>C"	"r.(?)"	"p.(=)"	""
"0000342611"	"00005508"	"90"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315Ter)"	""
"0000344091"	"00005508"	"10"	"1248"	"0"	"1248"	"0"	"c.1248C>T"	"r.(?)"	"p.(Asp416=)"	""
"0000348929"	"00005508"	"10"	"934"	"0"	"934"	"0"	"c.934A>G"	"r.(?)"	"p.(Ser312Gly)"	""
"0000350731"	"00005508"	"50"	"954"	"4"	"954"	"4"	"c.954+4A>G"	"r.spl?"	"p.?"	""
"0000435797"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435798"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435799"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435800"	"00005508"	"90"	"844"	"0"	"844"	"0"	"c.844A>T"	"r.(?)"	"p.(Arg282*)"	"13"
"0000435801"	"00005508"	"90"	"640"	"0"	"640"	"0"	"c.640G>T"	"r.(?)"	"p.(Glu214*)"	"11"
"0000435802"	"00005508"	"10"	"-46"	"0"	"-46"	"0"	"c.-46G>A"	"r.(?)"	"p.(=)"	"1"
"0000435803"	"00005508"	"90"	"107"	"-1"	"321"	"1"	"c.(106+1_107-1)_(321+1_322-1)del"	"r.107_321del"	"p.fs*"	"1i"
"0000435804"	"00005508"	"90"	"788"	"0"	"788"	"0"	"c.788dup"	"r.(?)"	"p.(fs*)"	"12"
"0000435805"	"00005508"	"90"	"788"	"0"	"788"	"0"	"c.788dup"	"r.(?)"	"p.(fs*)"	"12"
"0000435806"	"00005508"	"90"	"506"	"0"	"506"	"0"	"c.506C>G"	"r.(?)"	"p.(Ser169*)"	"7"
"0000435807"	"00005508"	"90"	"506"	"0"	"506"	"0"	"c.506C>G"	"r.(?)"	"p.(Ser169*)"	"7"
"0000435808"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435809"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435810"	"00005508"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.spl?"	"p.(Gly240*)"	"12"
"0000435811"	"00005508"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.spl?"	"p.(Gly240*)"	"12"
"0000435812"	"00005508"	"90"	"1026"	"0"	"1026"	"0"	"c.1026C>G"	"r.(?)"	"p.(Asp342Glu)"	"14"
"0000435813"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435814"	"00005508"	"90"	"1111"	"0"	"1111"	"0"	"c.1111C>T"	"r.(?)"	"p.(Gln371*)"	"15"
"0000435815"	"00005508"	"90"	"1195"	"1"	"1195"	"1"	"c.1195+1G>A"	"r.spl"	"p.?"	"15i"
"0000435816"	"00005508"	"90"	"1229"	"0"	"1229"	"0"	"c.1229G>A"	"r.(?)"	"p.(Arg410Gln)"	"16"
"0000435817"	"00005508"	"90"	"1331"	"0"	"1331"	"0"	"c.1331G>A"	"r.(?)"	"p.(Cys444Tyr)"	"17"
"0000435818"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	"17"
"0000435819"	"00005508"	"90"	"394"	"-27"	"394"	"-27"	"c.394-27C>G"	"r.(?)"	"p.(=)"	"5i"
"0000435820"	"00005508"	"90"	"529"	"-23"	"529"	"-23"	"c.529-23A>G"	"r.(?)"	"p.(=)"	"7i"
"0000435821"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	"17"
"0000435822"	"00005508"	"90"	"394"	"-27"	"394"	"-27"	"c.394-27C>G"	"r.(?)"	"p.(=)"	"5i"
"0000435823"	"00005508"	"90"	"529"	"-23"	"529"	"-23"	"c.529-23A>G"	"r.(?)"	"p.(=)"	"7i"
"0000435824"	"00005508"	"90"	"176"	"0"	"176"	"0"	"c.176C>A"	"r.(?)"	"p.(Pro59Gln)"	"2"
"0000435825"	"00005508"	"90"	"176"	"0"	"176"	"0"	"c.176C>A"	"r.(?)"	"p.(Pro59Gln)"	"2"
"0000435826"	"00005508"	"90"	"1195"	"1"	"1195"	"1"	"c.1195+1G>A"	"r.spl"	"p.?"	"15i"
"0000435827"	"00005508"	"90"	"375"	"0"	"375"	"0"	"c.375del"	"r.(?)"	"p.(fs*)"	"5"
"0000435828"	"00005508"	"90"	"444"	"0"	"444"	"0"	"c.444G>A"	"r.(?)"	"p.(Trp148*)"	"6"
"0000435829"	"00005508"	"90"	"444"	"0"	"444"	"0"	"c.444G>A"	"r.(?)"	"p.(Trp148*)"	"6"
"0000435830"	"00005508"	"90"	"806"	"0"	"806"	"0"	"c.806dup"	"r.(?)"	"p.(fs*)"	"12"
"0000435831"	"00005508"	"90"	"806"	"0"	"806"	"0"	"c.806dup"	"r.(?)"	"p.(fs*)"	"12"
"0000435832"	"00005508"	"90"	"275"	"0"	"275"	"0"	"c.275dup"	"r.(?)"	"p.(fs*)"	"3"
"0000435833"	"00005508"	"90"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Gln211*)"	"10"
"0000435834"	"00005508"	"90"	"640"	"0"	"640"	"0"	"c.640G>T"	"r.(?)"	"p.(Glu214*)"	"11"
"0000435835"	"00005508"	"90"	"640"	"0"	"640"	"0"	"c.640G>T"	"r.(?)"	"p.(Glu214*)"	"11"
"0000435836"	"00005508"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.spl?"	"p.(Gly240*)"	"12"
"0000435837"	"00005508"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.spl?"	"p.(Gly240*)"	"12"
"0000435838"	"00005508"	"30"	"934"	"0"	"934"	"0"	"c.934A>G"	"r.(?)"	"p.(Ser312Gly)"	"13"
"0000435839"	"00005508"	"90"	"1229"	"0"	"1229"	"0"	"c.1229G>A"	"r.1229g>a"	"p.Arg410Gln"	"16"
"0000435840"	"00005508"	"90"	"1244"	"0"	"1244"	"0"	"c.1244A>G"	"r.1196_1298del"	"p.fs*"	"16"
"0000435841"	"00005508"	"90"	"1229"	"0"	"1229"	"0"	"c.1229G>C"	"r.(?)"	"p.(Arg410Pro)"	"16"
"0000435842"	"00005508"	"90"	"107"	"-1"	"321"	"1"	"c.(106+1_107-1)_(321+1_322-1)del"	"r.(del)"	"p.fs*"	"1i"
"0000435843"	"00005508"	"90"	"1111"	"0"	"1111"	"0"	"c.1111C>T"	"r.(?)"	"p.(Gln371*)"	"15"
"0000435844"	"00005508"	"90"	"1111"	"0"	"1111"	"0"	"c.1111C>T"	"r.(?)"	"p.(Gln371*)"	"15"
"0000435845"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	"17"
"0000435846"	"00005508"	"90"	"394"	"-27"	"394"	"-27"	"c.394-27C>G"	"r.(?)"	"p.(=)"	"5i"
"0000435847"	"00005508"	"90"	"529"	"-23"	"529"	"-23"	"c.529-23A>G"	"r.(?)"	"p.(=)"	"7i"
"0000435848"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	"17"
"0000435849"	"00005508"	"90"	"394"	"-27"	"394"	"-27"	"c.394-27C>G"	"r.(?)"	"p.(=)"	"5i"
"0000435850"	"00005508"	"90"	"529"	"-23"	"529"	"-23"	"c.529-23A>G"	"r.(?)"	"p.(=)"	"7i"
"0000435851"	"00005508"	"90"	"950"	"0"	"950"	"0"	"c.950del"	"r.(?)"	"p.(Pro317Leufs*2)"	"13"
"0000435852"	"00005508"	"90"	"107"	"-1"	"107"	"-1"	"c.107-1G>A"	"r.spl"	"p.?"	"1i"
"0000435853"	"00005508"	"90"	"1021"	"0"	"1021"	"0"	"c.1021A>G"	"r.(?)"	"p.(Arg341Gly)"	"14"
"0000435854"	"00005508"	"90"	"1021"	"0"	"1021"	"0"	"c.1021A>G"	"r.(?)"	"p.(Arg341Gly)"	"14"
"0000435855"	"00005508"	"90"	"109"	"0"	"109"	"0"	"c.109del"	"r.(?)"	"p.(Leu37Phefs*18)"	"2"
"0000435856"	"00005508"	"90"	"1324"	"0"	"1326"	"0"	"c.1324_1326del"	"r.(?)"	"p.(Gln442del)"	"17"
"0000435857"	"00005508"	"90"	"1157"	"0"	"1157"	"0"	"c.1157G>C"	"r.(?)"	"p.(Cys386Ser)"	"15"
"0000435858"	"00005508"	"90"	"444"	"0"	"444"	"0"	"c.444G>A"	"r.(?)"	"p.(Trp148*)"	"6"
"0000435859"	"00005508"	"90"	"1250"	"0"	"1250"	"0"	"c.1250G>A"	"r.(?)"	"p.(Cys417Tyr)"	"16"
"0000435860"	"00005508"	"90"	"1250"	"0"	"1250"	"0"	"c.1250G>A"	"r.(?)"	"p.(Cys417Tyr)"	"16"
"0000435861"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435862"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435863"	"00005508"	"90"	"157"	"0"	"157"	"0"	"c.157dup"	"r.(?)"	"p.(fs*)"	"2"
"0000435864"	"00005508"	"90"	"157"	"0"	"157"	"0"	"c.157dup"	"r.(?)"	"p.(fs*)"	"2"
"0000435865"	"00005508"	"90"	"679"	"0"	"679"	"0"	"c.679C>T"	"r.(?)"	"p.(Arg227*)"	"11"
"0000435866"	"00005508"	"90"	"679"	"0"	"679"	"0"	"c.679C>T"	"r.(?)"	"p.(Arg227*)"	"11"
"0000435867"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435868"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435869"	"00005508"	"90"	"738"	"0"	"738"	"0"	"c.738del"	"r.(?)"	"p.(fs*)"	"12"
"0000435870"	"00005508"	"90"	"738"	"0"	"738"	"0"	"c.738del"	"r.(?)"	"p.(fs*)"	"12"
"0000435871"	"00005508"	"90"	"797"	"0"	"797"	"0"	"c.797dup"	"r.(?)"	"p.(Gly267Argfs*35)"	"12"
"0000435872"	"00005508"	"90"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(?)"	"p.(Gly237Asp)"	"11"
"0000435873"	"00005508"	"10"	"934"	"0"	"934"	"0"	"c.934A>G"	"r.(?)"	"p.(Ser312Gly)"	"13"
"0000435874"	"00005508"	"90"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315*)"	"13"
"0000435875"	"00005508"	"90"	"1298"	"3"	"1298"	"3"	"c.1298+3A>G"	"r.(1196_1298del)"	"p.(fs*)"	"16i"
"0000435876"	"00005508"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.spl?"	"p.(Gly240*)"	"12"
"0000435877"	"00005508"	"90"	"718"	"0"	"718"	"0"	"c.718G>T"	"r.spl?"	"p.(Gly240*)"	"12"
"0000435878"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435879"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435880"	"00005508"	"90"	"107"	"-1"	"107"	"-1"	"c.107-1G>A"	"r.spl"	"p.?"	"1i"
"0000435881"	"00005508"	"90"	"950"	"0"	"950"	"0"	"c.950del"	"r.(?)"	"p.(Pro317Leufs*2)"	"13"
"0000435882"	"00005508"	"90"	"107"	"-1"	"107"	"-1"	"c.107-1G>A"	"r.spl"	"p.?"	"1i"
"0000435883"	"00005508"	"90"	"950"	"0"	"950"	"0"	"c.950del"	"r.(?)"	"p.(Pro317Leufs*2)"	"13"
"0000435884"	"00005508"	"70"	"721"	"0"	"721"	"0"	"c.721del"	"r.(?)"	"p.(Gln241Argfs*35)"	"12"
"0000435885"	"00005508"	"70"	"1289"	"0"	"1289"	"0"	"c.1289A>G"	"r.(?)"	"p.(Tyr430Cys)"	"16"
"0000435886"	"00005508"	"90"	"375"	"0"	"375"	"0"	"c.375del"	"r.(?)"	"p.(fs*)"	"5"
"0000435887"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.132a>g"	"p.Thr441Ala"	"17"
"0000435888"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.132a>g"	"p.Thr441Ala"	"17"
"0000435889"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	"17"
"0000435890"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	"17"
"0000435891"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435892"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435893"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435894"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435895"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435896"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	"16"
"0000435897"	"00005508"	"90"	"219"	"1"	"219"	"1"	"c.219+1G>C"	"r.spl"	"p.?"	"2i"
"0000435898"	"00005508"	"90"	"219"	"1"	"219"	"1"	"c.219+1G>C"	"r.spl"	"p.?"	"2i"
"0000435899"	"00005508"	"90"	"679"	"0"	"679"	"0"	"c.679C>T"	"r.(?)"	"p.(Arg227*)"	"11"
"0000435900"	"00005508"	"90"	"679"	"0"	"679"	"0"	"c.679C>T"	"r.(?)"	"p.(Arg227*)"	"11"
"0000435901"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435902"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435903"	"00005508"	"90"	"706"	"0"	"706"	"0"	"c.706C>T"	"r.(?)"	"p.(Arg236*)"	"11"
"0000435904"	"00005508"	"90"	"706"	"0"	"706"	"0"	"c.706C>T"	"r.(?)"	"p.(Arg236*)"	"11"
"0000435905"	"00005508"	"90"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Gln211*)"	"10"
"0000435906"	"00005508"	"90"	"1195"	"1"	"1195"	"1"	"c.1195+1G>T"	"r.spl"	"p.?"	"15i"
"0000435907"	"00005508"	"90"	"950"	"0"	"950"	"0"	"c.950del"	"r.(?)"	"p.(Pro317Leufs*2)"	"13"
"0000435908"	"00005508"	"90"	"107"	"-1"	"107"	"-1"	"c.107-1G>A"	"r.spl"	"p.?"	"1i"
"0000435909"	"00005508"	"90"	"367"	"-3"	"367"	"-3"	"c.367-3T>G"	"r.spl?"	"p.?"	"4i"
"0000435910"	"00005508"	"90"	"393"	"1"	"393"	"1"	"c.393+1G>A"	"r.spl"	"p.?"	"5i"
"0000435911"	"00005508"	"90"	"107"	"-1"	"107"	"-1"	"c.107-1G>A"	"r.spl"	"p.?"	"1i"
"0000435912"	"00005508"	"90"	"950"	"0"	"950"	"0"	"c.950del"	"r.(?)"	"p.(Pro317Leufs*2)"	"13"
"0000435913"	"00005508"	"90"	"950"	"0"	"950"	"0"	"c.950del"	"r.(?)"	"p.(Pro317Leufs*2)"	"13"
"0000435914"	"00005508"	"90"	"158"	"0"	"159"	"0"	"c.158_159insC"	"r.(?)"	"p.(Leu54Alafs*80)"	"2"
"0000435915"	"00005508"	"90"	"158"	"0"	"159"	"0"	"c.158_159insC"	"r.(?)"	"p.(Leu54Alafs*80)"	"2"
"0000435916"	"00005508"	"90"	"158"	"0"	"159"	"0"	"c.158_159insC"	"r.(?)"	"p.(Leu54Alafs*80)"	"2"
"0000435917"	"00005508"	"90"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Gln211*)"	"10"
"0000435918"	"00005508"	"90"	"279"	"0"	"279"	"0"	"c.279C>A"	"r.(?)"	"p.(Cys93*)"	"3"
"0000435919"	"00005508"	"90"	"279"	"0"	"279"	"0"	"c.279C>A"	"r.(?)"	"p.(Cys93*)"	"3"
"0000435920"	"00005508"	"90"	"1111"	"0"	"1111"	"0"	"c.1111C>T"	"r.(?)"	"p.(Gln371*)"	"15"
"0000435921"	"00005508"	"90"	"338"	"0"	"338"	"0"	"c.338del"	"r.(?)"	"p.(Pro113Leufs*51)"	"4"
"0000435922"	"00005508"	"90"	"377"	"0"	"377"	"0"	"c.377del"	"r.(?)"	"p.(Gly126Alafs*38)"	"5"
"0000435923"	"00005508"	"90"	"1195"	"1"	"1195"	"1"	"c.1195+1G>A"	"r.spl"	"p.?"	"15i"
"0000435924"	"00005508"	"90"	"444"	"0"	"444"	"0"	"c.444G>A"	"r.(?)"	"p.(Trp148*)"	"6"
"0000435925"	"00005508"	"90"	"444"	"0"	"444"	"0"	"c.444G>A"	"r.(?)"	"p.(Trp148*)"	"6"
"0000435926"	"00005508"	"90"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Gln211*)"	"10"
"0000435927"	"00005508"	"90"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Gln211*)"	"10"
"0000435928"	"00005508"	"90"	"893"	"0"	"893"	"0"	"c.893del"	"r.(?)"	"p.(Asn298Metfs*2)"	"13"
"0000435929"	"00005508"	"90"	"893"	"0"	"893"	"0"	"c.893del"	"r.(?)"	"p.(Asn298Metfs*2)"	"13"
"0000435930"	"00005508"	"90"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315*)"	"13"
"0000435931"	"00005508"	"90"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315*)"	"13"
"0000435932"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435933"	"00005508"	"90"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	"15"
"0000435934"	"00005508"	"90"	"1257"	"0"	"1257"	"0"	"c.1257del"	"r.(?)"	"p.(Ser420Leufs*6)"	"16"
"0000435935"	"00005508"	"90"	"1257"	"0"	"1257"	"0"	"c.1257del"	"r.(?)"	"p.(Ser420Leufs*6)"	"16"
"0000435936"	"00005508"	"90"	"1318"	"0"	"1318"	"0"	"c.1318T>C"	"r.(?)"	"p.(Cys440Arg)"	"17"
"0000435937"	"00005508"	"90"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	"17"
"0000435938"	"00005508"	"70"	"219"	"2"	"219"	"2"	"c.219+2T>G"	"r.spl?"	"p.?"	"2i"
"0000435939"	"00005508"	"90"	"219"	"1"	"219"	"1"	"c.219+1G>C"	"r.spl"	"p.?"	"2i"
"0000435940"	"00005508"	"70"	"1010"	"0"	"1010"	"0"	"c.1010T>C"	"r.(?)"	"p.(Ile337Thr)"	"14"
"0000435941"	"00005508"	"90"	"1250"	"0"	"1250"	"0"	"c.1250G>A"	"r.(?)"	"p.(Cys417Tyr)"	"16"
"0000435942"	"00005508"	"50"	"965"	"0"	"965"	"0"	"c.965T>A"	"r.(?)"	"p.(Val322Asp)"	"14"
"0000435943"	"00005508"	"50"	"679"	"0"	"679"	"0"	"c.679C>T"	"r.(?)"	"p.(Arg227*)"	"11"
"0000435944"	"00005508"	"50"	"1339"	"0"	"1339"	"0"	"c.1339G>C"	"r.(?)"	"p.(Asp447His)"	"17"
"0000435945"	"00005508"	"50"	"1331"	"0"	"1331"	"0"	"c.1331G>A"	"r.(?)"	"p.(Cys444Tyr)"	"17"
"0000435946"	"00005508"	"50"	"1354"	"0"	"1354"	"0"	"c.1354C>T"	"r.(?)"	"p.(Arg452Cys)"	"17"
"0000435947"	"00005508"	"70"	"219"	"1"	"219"	"1"	"c.219+1G>C"	"r.spl?"	"p.?"	"3i"
"0000470544"	"00005508"	"90"	"444"	"0"	"444"	"0"	"c.444G>A"	"r.(?)"	"p.(Trp148*)"	""
"0000518343"	"00005508"	"30"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Pro361Ser)"	""
"0000518344"	"00005508"	"30"	"934"	"0"	"934"	"0"	"c.934A>G"	"r.(?)"	"p.(Ser312Gly)"	""
"0000518345"	"00005508"	"50"	"737"	"0"	"737"	"0"	"c.737G>C"	"r.(?)"	"p.(Gly246Ala)"	""
"0000518346"	"00005508"	"50"	"650"	"0"	"650"	"0"	"c.650C>G"	"r.(?)"	"p.(Pro217Arg)"	""
"0000518357"	"00005508"	"30"	"106"	"6"	"106"	"6"	"c.106+6T>C"	"r.(=)"	"p.(=)"	""
"0000608386"	"00005508"	"50"	"1346"	"0"	"1346"	"0"	"c.1346C>T"	"r.(?)"	"p.(Thr449Met)"	""
"0000608387"	"00005508"	"50"	"1346"	"0"	"1346"	"0"	"c.1346C>T"	"r.(?)"	"p.(Thr449Met)"	""
"0000651108"	"00005508"	"50"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Pro361Ser)"	""
"0000651109"	"00005508"	"50"	"785"	"0"	"785"	"0"	"c.785G>A"	"r.(?)"	"p.(Arg262His)"	""
"0000697449"	"00005508"	"70"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	""
"0000697450"	"00005508"	"70"	"1082"	"0"	"1082"	"0"	"c.1082del"	"r.(?)"	"p.(Pro361Leufs*65)"	""
"0000699706"	"00005508"	"50"	"380"	"0"	"380"	"0"	"c.380G>T"	"r.(?)"	"p.(Arg127Leu)"	""
"0000833056"	"00005508"	"90"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	""
"0000833110"	"00005508"	"70"	"640"	"0"	"640"	"0"	"c.640G>T"	"r.(?)"	"p.(Glu214Ter)"	""
"0000833185"	"00005508"	"70"	"1289"	"0"	"1289"	"0"	"c.1289A>C"	"r.(?)"	"p.(Tyr430Ser)"	""
"0000844712"	"00005508"	"70"	"965"	"0"	"965"	"0"	"c.965T>G"	"r.(?)"	"p.(Val322Gly)"	""
"0000844713"	"00005508"	"70"	"1026"	"0"	"1026"	"0"	"c.1026C>G"	"r.(?)"	"p.(Asp342Glu)"	""
"0000844729"	"00005508"	"90"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315*)"	""
"0000858844"	"00005508"	"30"	"366"	"7"	"366"	"7"	"c.366+7A>G"	"r.(=)"	"p.(=)"	""
"0000948061"	"00005508"	"70"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Thr441Ala)"	""
"0000952446"	"00005508"	"90"	"157"	"0"	"157"	"0"	"c.157dup"	"r.(?)"	"p.(Leu53Profs*81)"	"2"
"0000975634"	"00005508"	"30"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(Pro361Ser)"	""
"0001013834"	"00005508"	"30"	"300"	"0"	"300"	"0"	"c.300C>T"	"r.(?)"	"p.(=)"	""
"0001033767"	"00005508"	"50"	"529"	"-9"	"529"	"-9"	"c.529-9T>C"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 177
"{{screeningid}}"	"{{variantid}}"
"0000035488"	"0000062607"
"0000035489"	"0000062608"
"0000035490"	"0000062609"
"0000035491"	"0000062610"
"0000035492"	"0000062611"
"0000035493"	"0000062612"
"0000035494"	"0000062613"
"0000035495"	"0000062614"
"0000035496"	"0000062615"
"0000035497"	"0000062616"
"0000080922"	"0000130008"
"0000081018"	"0000130104"
"0000081157"	"0000130243"
"0000206321"	"0000435797"
"0000206321"	"0000435798"
"0000206322"	"0000435799"
"0000206322"	"0000435800"
"0000206323"	"0000435801"
"0000206323"	"0000435802"
"0000206323"	"0000435803"
"0000206324"	"0000435804"
"0000206324"	"0000435805"
"0000206325"	"0000435806"
"0000206325"	"0000435807"
"0000206326"	"0000435808"
"0000206326"	"0000435809"
"0000206327"	"0000435810"
"0000206327"	"0000435811"
"0000206328"	"0000435812"
"0000206328"	"0000435813"
"0000206329"	"0000435814"
"0000206329"	"0000435815"
"0000206330"	"0000435816"
"0000206330"	"0000435817"
"0000206331"	"0000435818"
"0000206331"	"0000435819"
"0000206331"	"0000435820"
"0000206331"	"0000435821"
"0000206331"	"0000435822"
"0000206331"	"0000435823"
"0000206332"	"0000435824"
"0000206332"	"0000435825"
"0000206333"	"0000435826"
"0000206333"	"0000435827"
"0000206334"	"0000435828"
"0000206334"	"0000435829"
"0000206335"	"0000435830"
"0000206335"	"0000435831"
"0000206336"	"0000435832"
"0000206336"	"0000435833"
"0000206337"	"0000435834"
"0000206337"	"0000435835"
"0000206338"	"0000435836"
"0000206338"	"0000435837"
"0000206339"	"0000435838"
"0000206339"	"0000435839"
"0000206339"	"0000435840"
"0000206340"	"0000435841"
"0000206340"	"0000435842"
"0000206341"	"0000435843"
"0000206341"	"0000435844"
"0000206342"	"0000435845"
"0000206342"	"0000435846"
"0000206342"	"0000435847"
"0000206342"	"0000435848"
"0000206342"	"0000435849"
"0000206342"	"0000435850"
"0000206343"	"0000435851"
"0000206343"	"0000435852"
"0000206344"	"0000435853"
"0000206344"	"0000435854"
"0000206345"	"0000435855"
"0000206345"	"0000435856"
"0000206346"	"0000435857"
"0000206346"	"0000435858"
"0000206347"	"0000435859"
"0000206347"	"0000435860"
"0000206348"	"0000435861"
"0000206348"	"0000435862"
"0000206349"	"0000435863"
"0000206349"	"0000435864"
"0000206350"	"0000435865"
"0000206350"	"0000435866"
"0000206351"	"0000435867"
"0000206351"	"0000435868"
"0000206352"	"0000435869"
"0000206352"	"0000435870"
"0000206353"	"0000435871"
"0000206353"	"0000435872"
"0000206354"	"0000435873"
"0000206355"	"0000435874"
"0000206355"	"0000435875"
"0000206356"	"0000435876"
"0000206356"	"0000435877"
"0000206357"	"0000435878"
"0000206357"	"0000435879"
"0000206358"	"0000435880"
"0000206358"	"0000435881"
"0000206359"	"0000435882"
"0000206359"	"0000435883"
"0000206360"	"0000435884"
"0000206360"	"0000435885"
"0000206361"	"0000435886"
"0000206362"	"0000435887"
"0000206362"	"0000435888"
"0000206363"	"0000435889"
"0000206363"	"0000435890"
"0000206364"	"0000435891"
"0000206364"	"0000435892"
"0000206365"	"0000435893"
"0000206365"	"0000435894"
"0000206366"	"0000435895"
"0000206366"	"0000435896"
"0000206367"	"0000435897"
"0000206367"	"0000435898"
"0000206368"	"0000435899"
"0000206368"	"0000435900"
"0000206369"	"0000435901"
"0000206369"	"0000435902"
"0000206370"	"0000435903"
"0000206370"	"0000435904"
"0000206371"	"0000435905"
"0000206371"	"0000435906"
"0000206372"	"0000435907"
"0000206372"	"0000435908"
"0000206373"	"0000435909"
"0000206373"	"0000435910"
"0000206374"	"0000435911"
"0000206375"	"0000435912"
"0000206376"	"0000435913"
"0000206377"	"0000435914"
"0000206377"	"0000435915"
"0000206378"	"0000435916"
"0000206378"	"0000435917"
"0000206379"	"0000435918"
"0000206379"	"0000435919"
"0000206380"	"0000435920"
"0000206380"	"0000435921"
"0000206381"	"0000435922"
"0000206381"	"0000435923"
"0000206382"	"0000435924"
"0000206382"	"0000435925"
"0000206383"	"0000435926"
"0000206383"	"0000435927"
"0000206384"	"0000435928"
"0000206384"	"0000435929"
"0000206385"	"0000435930"
"0000206385"	"0000435931"
"0000206386"	"0000435932"
"0000206386"	"0000435933"
"0000206387"	"0000435934"
"0000206387"	"0000435935"
"0000206388"	"0000435936"
"0000206388"	"0000435937"
"0000206389"	"0000435938"
"0000206390"	"0000435939"
"0000206391"	"0000435940"
"0000206392"	"0000435941"
"0000206393"	"0000435942"
"0000206393"	"0000435943"
"0000206394"	"0000435944"
"0000206395"	"0000435945"
"0000206395"	"0000435946"
"0000206396"	"0000435947"
"0000229363"	"0000470544"
"0000294419"	"0000651108"
"0000294420"	"0000651109"
"0000315360"	"0000697449"
"0000315361"	"0000697450"
"0000317207"	"0000699706"
"0000400249"	"0000833056"
"0000400303"	"0000833110"
"0000400303"	"0000833185"
"0000407889"	"0000844712"
"0000407889"	"0000844713"
"0000407900"	"0000844729"
"0000445433"	"0000952446"