### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CSTB)
# 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}}"
"CSTB"	"cystatin B (stefin B)"	"21"	"q22.3"	"no"	"NG_011545.1"	"UD_132084396211"	"{PMID:Joensuu 2008:18028412}"	"https://www.LOVD.nl/CSTB"	"Finnish Disease Database <http://www.findis.org/>\r\nGeneReviews <http://www.ncbi.nlm.nih.gov/books/NBK1142/>"	"1"	"2482"	"1476"	"601145"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/CSTB_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00006"	"2010-04-29 00:00:00"	"00006"	"2022-03-09 11:23:51"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00025580"	"CSTB"	"cystatin B (stefin B)"	"001"	"NM_000100.3"	""	"NP_000091.1"	""	""	""	"-106"	"834"	"297"	"45196256"	"45193546"	"00006"	"2020-11-13 09:26:44"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{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"	""	""
"00009"	"EPM1A"	"epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg)"	"AR"	"254800"	""	""	""	"00006"	"2012-06-29 14:54:52"	"00006"	"2020-11-13 09:46:33"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"03454"	"EPM"	"epilepsy, myoclonic, progressive (EPM)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-03-01 10:29:51"
"05315"	"epilepsy, Rolandic"	"epilepsy, Rolandic"	""	""	""	""	""	"00006"	"2017-08-11 13:02:50"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"CSTB"	"00009"
"CSTB"	"03454"


## Individuals ## Do not remove or alter this header ##
## Count = 69
"{{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}}"
"00035449"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035450"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035451"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035452"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00087233"	""	""	""	"2"	""	"01811"	"{PMID:O\'Brien 2017:28378817}"	"2-generation family, 2 affected sisters, unaffected heterozygous carrier parents"	"F"	"yes"	"Sri Lanka"	""	"0"	""	""	""	"FamPatII1"
"00087236"	""	""	"00087233"	"1"	""	"01811"	"{PMID:O\'Brien 2017:28378817}"	"sister"	"F"	"yes"	"Sri Lanka"	"10y"	"0"	""	""	""	"FamPatII2"
"00092276"	""	""	""	"2"	""	"00006"	"{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}"	"2-generation family, 2 affected sibs, unaffected heterozygous carrier parents"	""	""	"United States"	""	"0"	""	""	""	""
"00117092"	""	""	""	"1"	""	"02192"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	"individual from 194 RE cases"	""	""	""	""	"0"	""	""	""	"S_711:0/1:ATYPICAL_RE"
"00404796"	""	""	""	"1"	""	"00006"	"{PMID:Pennacchio 1996:8596935}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Fam2"
"00404797"	""	""	""	"2"	""	"00006"	"{PMID:Pennacchio 1996:8596935}"	"2 families"	""	""	""	""	"0"	""	""	""	"family"
"00404798"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"Morocco"	""	"0"	""	""	""	"GVA01"
"00404799"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"France"	""	"0"	""	""	""	"GVA03"
"00404800"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"Switzerland"	""	"0"	""	""	""	"GVA08"
"00404801"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"France"	""	"0"	""	""	""	"GVA09"
"00404802"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"Spain"	""	"0"	""	""	""	"GVA10"
"00404803"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"France"	""	"0"	""	""	""	"GVA07"
"00404804"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"France"	""	"0"	""	""	""	"GVA06"
"00404805"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"France"	""	"0"	""	""	""	"GVA02"
"00404806"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"Finland;France"	""	"0"	""	""	""	"GVA04"
"00404807"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"France"	""	"0"	""	""	""	"GVA05"
"00404808"	""	""	""	"1"	""	"00006"	"{PMID:Lalioti 1997:9012407}"	""	""	""	"France"	""	"0"	""	""	""	"control"
"00404815"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Finland"	""	"0"	""	""	""	"Fam1"
"00404816"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Finland"	""	"0"	""	""	""	"Fam2"
"00404817"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Finland"	""	"0"	""	""	""	"Fam3"
"00404818"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"3-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Finland"	""	"0"	""	""	""	"Fam4"
"00404819"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"F;M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam5"
"00404820"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"3-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Japan"	""	"0"	""	""	""	"Fam6"
"00404821"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"F;M"	""	"Iran"	""	"0"	""	""	""	"Fam7"
"00404822"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Italy"	""	"0"	""	""	""	"Fam8"
"00404823"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Germany;England;France"	""	"0"	""	""	""	"Fam9"
"00404824"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Cuba"	""	"0"	""	""	""	"Fam10"
"00404825"	""	""	""	"4"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"3-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents"	"F;M"	""	"Denmark"	""	"0"	""	""	""	"Fam11"
"00404826"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian;Ireland"	"Fam12"
"00404827"	""	""	""	"3"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents"	"M"	""	"Poland"	""	"0"	""	""	""	"Fam13"
"00404828"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"Fam14"
"00404829"	""	""	""	"2"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	"2-generation family, 2 affected brothers, unaffected heterozygous carrier parents"	"M"	""	"Hungary"	""	"0"	""	""	""	"Fam15"
"00404830"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	""	"M"	""	"Finland"	""	"0"	""	""	""	"Fam16"
"00404831"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	""	"M"	""	"Finland"	""	"0"	""	""	""	"Fam17"
"00404832"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	""	"F"	""	"Finland"	""	"0"	""	""	""	"Fam18"
"00404833"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"United States"	""	"0"	""	""	""	"Fam19"
"00404834"	""	""	""	"1"	""	"00006"	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"United States"	""	"0"	""	""	""	"Fam20"
"00404835"	""	""	""	"1"	""	"00006"	"{PMID:Bespalova 1997:9342192}"	"Pat3 in Pranzatelli 1995"	""	""	"United States"	""	"0"	""	""	""	"PatEP6"
"00404852"	""	""	""	"1"	""	"00006"	"{PMID:De Haan 2004:15329070}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"patient"
"00404853"	""	""	""	"1"	""	"00006"	"{PMID:De Haan 2004:15329070}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"patient"
"00404854"	""	""	""	"1"	""	"00006"	"{PMID:De Haan 2004:15329070}"	""	""	""	"Netherlands"	""	"0"	""	""	""	"patient"
"00404855"	""	""	""	"1"	""	"00006"	"{PMID:De Haan 2004:15329070}"	""	""	""	"Netherlands"	""	"0"	""	""	"Iran"	"patient"
"00404856"	""	""	""	"1"	""	"00006"	"{PMID:De Haan 2004:15329070}"	""	""	""	"Netherlands"	""	"0"	""	""	"Turkey"	"patient"
"00404857"	""	""	""	"1"	""	"00006"	"{PMID:De Haan 2004:15329070}"	""	""	""	"Netherlands"	""	"0"	""	""	"Morocco"	"patient"
"00404858"	""	""	""	"1"	""	"00006"	"{PMID:De Haan 2004:15329070}"	""	""	""	"Netherlands"	""	"0"	""	""	"Greece"	"patient"
"00404860"	""	""	""	"7"	""	"00006"	"{PMID:Mazarib 2001:11571333}"	"7-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Israel"	""	"0"	""	""	"Arab-Galilee"	"family"
"00404861"	""	""	""	"1"	""	"00006"	"{PMID:Joensuu 2007:17003839}"	""	""	""	"Finland"	""	"0"	""	""	""	"PatE"
"00404862"	""	""	""	"1"	""	"00006"	"{PMID:Joensuu 2007:17003839}"	""	""	""	"Italy"	""	"0"	""	""	""	"PatJ"
"00404863"	""	""	""	"1"	""	"00006"	"{PMID:Kagitani-Shimono 2002:11814737}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Japan"	""	"0"	""	""	""	"Pat1"
"00404864"	""	""	""	"1"	""	"00006"	"{PMID:Kagitani-Shimono 2002:11814737}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Japan"	""	"0"	""	""	""	"Pat2"
"00404865"	""	""	""	"1"	""	"00006"	"{PMID:Pinto 2012:22154554}"	""	"M"	"no"	"Portugal"	""	"0"	""	""	""	"patient"
"00404874"	""	""	""	"1"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"Pat1"
"00404875"	""	""	""	"2"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	"2-generation family, 2 affected brothers"	"M"	""	"Spain"	""	"0"	""	""	""	"Pat2"
"00404876"	""	""	"00404875"	"1"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	"brother"	"M"	""	"Spain"	""	"0"	""	""	""	"Pat3"
"00404877"	""	""	""	"1"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"Pat4"
"00404878"	""	""	""	"1"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"Pat5"
"00404879"	""	""	""	"1"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	""	"M"	""	"Italy"	""	"0"	""	""	""	"Pat6"
"00404880"	""	""	""	"2"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	"2-generation family, 2 affected brothers"	"M"	""	"Italy"	""	"0"	""	""	""	"Pat7"
"00404881"	""	""	"00404880"	"1"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	"brother"	"M"	""	"Italy"	""	"0"	""	""	""	"Pat8"
"00404882"	""	""	""	"40"	""	"00006"	"{PMID:Canafoglia 2012:23205931}"	"40 homozygous individuals"	""	""	"Italy"	""	"0"	""	""	""	"patients"
"00404884"	""	""	""	"1"	""	"00006"	"{PMID:Larson 1999:10484766}"	"family, 2 affected"	""	""	"(United States)"	""	"0"	""	""	""	"Fam7Pat51/52"
"00404885"	""	""	""	"2"	""	"00006"	"{PMID:Larson 1999:10484766}"	"family, 2 affected"	""	""	"(United States)"	""	"0"	""	""	""	"Fam15Pat142/143"
"00404886"	""	""	""	"1"	""	"00006"	"{PMID:Larson 1999:10484766}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Fam16Pat27"
"00404887"	""	""	""	"1"	""	"00006"	"{PMID:Larson 1999:10484766}"	""	""	""	"(United States)"	""	"0"	""	""	""	"Fam17Pat163"
"00404888"	""	""	""	"1"	""	"00006"	"{PMID:Nokelainen 2000:10927802}"	"2-generation family, 1 affected (DM + EPM), DM affected father"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"patient"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 65
"{{individualid}}"	"{{diseaseid}}"
"00087233"	"00198"
"00087236"	"00198"
"00092276"	"00009"
"00117092"	"05315"
"00404796"	"03454"
"00404797"	"03454"
"00404798"	"03454"
"00404799"	"03454"
"00404800"	"03454"
"00404801"	"03454"
"00404802"	"03454"
"00404803"	"03454"
"00404804"	"03454"
"00404805"	"03454"
"00404806"	"03454"
"00404807"	"03454"
"00404808"	"00000"
"00404815"	"03454"
"00404816"	"03454"
"00404817"	"03454"
"00404818"	"03454"
"00404819"	"03454"
"00404820"	"03454"
"00404821"	"03454"
"00404822"	"03454"
"00404823"	"03454"
"00404824"	"03454"
"00404825"	"03454"
"00404826"	"03454"
"00404827"	"03454"
"00404828"	"03454"
"00404829"	"03454"
"00404830"	"03454"
"00404831"	"03454"
"00404832"	"03454"
"00404833"	"03454"
"00404834"	"03454"
"00404835"	"03454"
"00404852"	"00198"
"00404853"	"00198"
"00404854"	"00198"
"00404855"	"00198"
"00404856"	"00198"
"00404857"	"00198"
"00404858"	"00198"
"00404860"	"03454"
"00404861"	"00198"
"00404862"	"00198"
"00404863"	"03454"
"00404864"	"03454"
"00404865"	"03454"
"00404874"	"03454"
"00404875"	"03454"
"00404876"	"03454"
"00404877"	"03454"
"00404878"	"03454"
"00404879"	"03454"
"00404880"	"03454"
"00404881"	"03454"
"00404882"	"03454"
"00404884"	"03454"
"00404885"	"03454"
"00404886"	"03454"
"00404887"	"03454"
"00404888"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00009, 00198, 03454, 05315
## Count = 60
"{{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}}"
"0000070612"	"00009"	"00092276"	"00006"	"Familial, autosomal recessive"	""	"neurodegenerative phenotype, neurotransmitter abnormalities; seizures responded to Levocarbidopa and 5OH-tryptophan"	""	""	""	""	""	""	""	""	""	""	""
"0000092286"	"05315"	"00117092"	"02192"	"Unknown"	""	"atypical Rolandic epilepsy"	""	""	""	""	""	""	""	""	""	""	""
"0000242037"	"00198"	"00087233"	"01811"	"Familial, autosomal recessive"	""	"see paper; ...,  profound global developmental delay, microcephaly, cortical blindness, axial hypotonia with appendicular hypertonia; no head control, no independent sitting, no ambulation, no speech; seizure disorder"	""	""	""	""	""	""	""	""	""	""	""
"0000242038"	"00198"	"00087236"	"01811"	"Familial, autosomal recessive"	""	"see paper; ..., profound global developmental delay, microcephaly, cortical blindness, axial hypotonia with appendicular hypertonia; no head control, no independent sitting, no ambulation, no speech"	""	""	""	""	""	""	""	""	""	""	""
"0000297362"	"03454"	"00404796"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297363"	"03454"	"00404797"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297364"	"03454"	"00404798"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297365"	"03454"	"00404799"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297366"	"03454"	"00404800"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297367"	"03454"	"00404801"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297368"	"03454"	"00404802"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297369"	"03454"	"00404803"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297370"	"03454"	"00404804"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297371"	"03454"	"00404805"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297372"	"03454"	"00404806"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297373"	"03454"	"00404807"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1"	"progressive myoclonus epilepsy"	""
"0000297379"	"03454"	"00404815"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297380"	"03454"	"00404816"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297381"	"03454"	"00404817"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297382"	"03454"	"00404818"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297383"	"03454"	"00404819"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297384"	"03454"	"00404820"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297385"	"03454"	"00404821"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297386"	"03454"	"00404822"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297387"	"03454"	"00404823"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297388"	"03454"	"00404824"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297389"	"03454"	"00404825"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297390"	"03454"	"00404826"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297391"	"03454"	"00404827"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297392"	"03454"	"00404828"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297393"	"03454"	"00404829"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297394"	"03454"	"00404830"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297395"	"03454"	"00404831"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297396"	"03454"	"00404832"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297397"	"03454"	"00404833"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297398"	"03454"	"00404834"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"progressive myoclonic epilepsy"	""
"0000297399"	"03454"	"00404835"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg progressive myoclonus epilepsy"	""
"0000297416"	"00198"	"00404852"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"uncontrolled myoclonus"	""
"0000297417"	"00198"	"00404853"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"uncontrolled myoclonus"	""
"0000297418"	"00198"	"00404854"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"uncontrolled myoclonus"	""
"0000297419"	"00198"	"00404855"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"uncontrolled myoclonus"	""
"0000297420"	"00198"	"00404856"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"uncontrolled myoclonus"	""
"0000297421"	"00198"	"00404857"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"uncontrolled myoclonus"	""
"0000297422"	"00198"	"00404858"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"EPM1A"	"uncontrolled myoclonus"	""
"0000297423"	"03454"	"00404860"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1"	"Unverricht-Lundborg progressive myoclonus epilepsy"	""
"0000297425"	"00198"	"00404861"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg progressive myclonus epilepsy"	""
"0000297426"	"00198"	"00404862"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg progressive myclonus epilepsy"	""
"0000297427"	"03454"	"00404863"	"00006"	"Familial, autosomal recessive"	"18y"	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg progressive myoclonus epilepsy"	""
"0000297428"	"03454"	"00404864"	"00006"	"Familial, autosomal recessive"	"16y"	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg progressive myoclonus epilepsy"	""
"0000297429"	"03454"	"00404865"	"00006"	"Familial, autosomal recessive"	"33y"	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg progressive myoclonus epilepsy"	""
"0000297437"	"03454"	"00404874"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297438"	"03454"	"00404875"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297439"	"03454"	"00404876"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297440"	"03454"	"00404877"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297441"	"03454"	"00404878"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297442"	"03454"	"00404879"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297443"	"03454"	"00404880"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297444"	"03454"	"00404881"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297445"	"03454"	"00404882"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"EPM1A"	"Unverricht-Lundborg disease"	""
"0000297447"	"00198"	"00404888"	"00006"	"Complex"	"28y"	"see paper; ..."	""	""	""	""	""	""	""	""	"DM1;EPM1A"	"Unverricht-Lundborg progressive myoclonus epilepsy, myotonic dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 69
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000035519"	"00035449"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035520"	"00035450"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035521"	"00035451"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035522"	"00035452"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000087372"	"00087233"	"1"	"01811"	"01811"	"2016-11-16 20:43:00"	""	""	"SEQ"	"DNA"	""	""
"0000087375"	"00087236"	"1"	"01811"	"01811"	"2016-11-16 22:46:26"	""	""	"SEQ"	"DNA"	""	""
"0000092416"	"00092276"	"1"	"00006"	"00006"	"2016-12-16 20:09:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000117268"	"00117092"	"1"	"02192"	"00006"	"2017-08-03 15:16:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000406036"	"00404796"	"1"	"00006"	"00006"	"2022-03-08 21:05:49"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000406037"	"00404797"	"1"	"00006"	"00006"	"2022-03-08 21:09:21"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000406038"	"00404798"	"1"	"00006"	"00006"	"2022-03-08 21:24:11"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406039"	"00404799"	"1"	"00006"	"00006"	"2022-03-08 21:31:17"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406040"	"00404800"	"1"	"00006"	"00006"	"2022-03-08 21:39:54"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406041"	"00404801"	"1"	"00006"	"00006"	"2022-03-08 21:41:28"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406042"	"00404802"	"1"	"00006"	"00006"	"2022-03-08 21:42:50"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406043"	"00404803"	"1"	"00006"	"00006"	"2022-03-08 21:47:43"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406044"	"00404804"	"1"	"00006"	"00006"	"2022-03-08 21:52:56"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406045"	"00404805"	"1"	"00006"	"00006"	"2022-03-08 21:56:40"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406046"	"00404806"	"1"	"00006"	"00006"	"2022-03-08 21:58:18"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406047"	"00404807"	"1"	"00006"	"00006"	"2022-03-08 21:59:47"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406048"	"00404808"	"1"	"00006"	"00006"	"2022-03-08 22:05:44"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000406055"	"00404815"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406056"	"00404816"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406057"	"00404817"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406058"	"00404818"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406059"	"00404819"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406060"	"00404820"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406061"	"00404821"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406062"	"00404822"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406063"	"00404823"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406064"	"00404824"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406065"	"00404825"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406066"	"00404826"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406067"	"00404827"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406068"	"00404828"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406069"	"00404829"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406070"	"00404830"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406071"	"00404831"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406072"	"00404832"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406073"	"00404833"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406074"	"00404834"	"1"	"00006"	"00006"	"2022-03-09 11:29:48"	""	""	"SEQ;Southern;SSCA"	"DNA"	""	""
"0000406075"	"00404835"	"1"	"00006"	"00006"	"2022-03-09 11:46:10"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000406092"	"00404852"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406093"	"00404853"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406094"	"00404854"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406095"	"00404855"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406096"	"00404856"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406097"	"00404857"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406098"	"00404858"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406099"	"00404860"	"1"	"00006"	"00006"	"2022-03-09 17:59:52"	""	""	"Southern"	"DNA"	""	""
"0000406101"	"00404861"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	""	""	"SEQ"	"DNA"	""	""
"0000406102"	"00404862"	"1"	"00006"	"00006"	"2022-03-09 17:41:35"	"00006"	"2022-03-09 19:04:44"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000406103"	"00404863"	"1"	"00006"	"00006"	"2022-03-09 19:11:56"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406104"	"00404864"	"1"	"00006"	"00006"	"2022-03-09 19:18:57"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406105"	"00404865"	"1"	"00006"	"00006"	"2022-03-09 19:24:52"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000406113"	"00404874"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406114"	"00404875"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406115"	"00404876"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406116"	"00404877"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406117"	"00404878"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406118"	"00404879"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406119"	"00404880"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406120"	"00404881"	"1"	"00006"	"00006"	"2022-03-09 21:32:19"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406121"	"00404882"	"1"	"00006"	"00006"	"2022-03-09 21:34:20"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406123"	"00404884"	"1"	"00006"	"00006"	"2022-03-10 09:22:42"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406124"	"00404885"	"1"	"00006"	"00006"	"2022-03-10 09:30:01"	""	""	"SEQ;Southern"	"DNA"	""	""
"0000406125"	"00404886"	"1"	"00006"	"00006"	"2022-03-10 09:34:52"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000406126"	"00404887"	"1"	"00006"	"00006"	"2022-03-10 09:38:50"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000406127"	"00404888"	"1"	"00006"	"00006"	"2022-03-10 10:06:55"	""	""	"Southern"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 69
"{{screeningid}}"	"{{geneid}}"
"0000035519"	"CSTB"
"0000035520"	"CSTB"
"0000035521"	"CSTB"
"0000035522"	"CSTB"
"0000087372"	"CSTB"
"0000087375"	"CSTB"
"0000092416"	"CSTB"
"0000406036"	"CSTB"
"0000406037"	"CSTB"
"0000406038"	"CSTB"
"0000406039"	"CSTB"
"0000406040"	"CSTB"
"0000406041"	"CSTB"
"0000406042"	"CSTB"
"0000406043"	"CSTB"
"0000406044"	"CSTB"
"0000406045"	"CSTB"
"0000406046"	"CSTB"
"0000406047"	"CSTB"
"0000406048"	"CSTB"
"0000406055"	"CSTB"
"0000406056"	"CSTB"
"0000406057"	"CSTB"
"0000406058"	"CSTB"
"0000406059"	"CSTB"
"0000406060"	"CSTB"
"0000406061"	"CSTB"
"0000406062"	"CSTB"
"0000406063"	"CSTB"
"0000406064"	"CSTB"
"0000406065"	"CSTB"
"0000406066"	"CSTB"
"0000406067"	"CSTB"
"0000406068"	"CSTB"
"0000406069"	"CSTB"
"0000406070"	"CSTB"
"0000406071"	"CSTB"
"0000406072"	"CSTB"
"0000406073"	"CSTB"
"0000406074"	"CSTB"
"0000406075"	"CSTB"
"0000406092"	"CSTB"
"0000406093"	"CSTB"
"0000406094"	"CSTB"
"0000406095"	"CSTB"
"0000406096"	"CSTB"
"0000406097"	"CSTB"
"0000406098"	"CSTB"
"0000406099"	"CSTB"
"0000406101"	"CSTB"
"0000406102"	"CSTB"
"0000406103"	"CSTB"
"0000406104"	"CSTB"
"0000406105"	"CSTB"
"0000406113"	"CSTB"
"0000406114"	"CSTB"
"0000406115"	"CSTB"
"0000406116"	"CSTB"
"0000406117"	"CSTB"
"0000406118"	"CSTB"
"0000406119"	"CSTB"
"0000406120"	"CSTB"
"0000406121"	"CSTB"
"0000406123"	"CSTB"
"0000406124"	"CSTB"
"0000406125"	"CSTB"
"0000406126"	"CSTB"
"0000406127"	"CSTB"
"0000406127"	"DMPK"


## 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 = 142
"{{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}}"
"0000001426"	"0"	"90"	"21"	"0"	"0"	""	"0"	"00015"	"CSTB_000000"	"g.45196325_45196360[30_125]"	""	""	""	"-209_-174[30_125]"	"dodecamer repeat expansion CCCGCCCCGCGC[N]; variant leads to reduced CSTB expression"	"SUMMARY record"	""	""	"0"	""	""	"g.43776444_43776479[30_125]"	""	"pathogenic (recessive)"	""
"0000001427"	"0"	"70"	"21"	"45196141"	"45196141"	"subst"	"0"	"00015"	"CSTB_000003"	"g.45196141C>G"	""	""	""	""	""	"SUMMARY record"	""	"rs74315443"	"0"	""	""	"g.43776260C>G"	""	"likely pathogenic (recessive)"	""
"0000001435"	"0"	"70"	"21"	"45194178"	"45194178"	"subst"	"3.65453E-5"	"00015"	"CSTB_000005"	"g.45194178G>A"	""	""	""	""	""	"SUMMARY record"	""	""	""	""	""	"g.43774297G>A"	""	"likely pathogenic (recessive)"	""
"0000001443"	"0"	"70"	"21"	"45194213"	"45194213"	"subst"	"0"	"00015"	"CSTB_000012"	"g.45194213T>C"	""	""	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.43774332T>C"	""	"likely pathogenic (recessive)"	""
"0000001454"	"0"	"90"	"21"	"45194165"	"45194166"	"del"	"0"	"00015"	"CSTB_000006"	"g.45194165_45194166del"	""	""	""	""	""	"SUMMARY record"	""	""	""	""	""	"g.43774284_43774285del"	""	"pathogenic (recessive)"	""
"0000001455"	"0"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00015"	"CSTB_000001"	"g.45194641C>G"	"2/6503 NHLBI"	""	""	""	""	"SUMMARY record"	""	"rs147484110"	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000001457"	"0"	"70"	"21"	"45194539"	"45194539"	"subst"	"0"	"00015"	"CSTB_000007"	"g.45194539C>T"	""	""	""	""	"transversion last nucleotide exon 2"	"SUMMARY record"	""	""	"0"	""	""	"g.43774658C>T"	""	"likely pathogenic (recessive)"	""
"0000001460"	"0"	"70"	"21"	"45194168"	"45194168"	"subst"	"0"	"00015"	"CSTB_000008"	"g.45194168T>G"	""	""	""	""	""	"SUMMARY record"	""	"rs121909346"	"0"	""	""	"g.43774287T>G"	""	"likely pathogenic (recessive)"	""
"0000001464"	"0"	"90"	"21"	"45194558"	"45194558"	"subst"	"0"	"00015"	"CSTB_000009"	"g.45194558C>T"	""	""	""	""	""	"SUMMARY record"	""	"rs312262708"	""	""	""	"g.43774677C>T"	""	"pathogenic (recessive)"	""
"0000001465"	"0"	"90"	"21"	"45196085"	"45196085"	"subst"	"0"	"00015"	"CSTB_000010"	"g.45196085C>T"	""	""	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.43776204C>T"	""	"pathogenic (recessive)"	""
"0000001466"	"0"	"90"	"21"	"45194582"	"45194582"	"subst"	"4.06062E-6"	"00015"	"CSTB_000011"	"g.45194582G>T"	""	""	""	""	""	"SUMMARY record"	""	""	""	""	""	"g.43774701G>T"	""	"pathogenic (recessive)"	""
"0000001467"	"0"	"90"	"21"	"45194523"	"45194540"	"del"	"0"	"00015"	"CSTB_000013"	"g.45194523_45194540del"	""	""	""	""	""	"SUMMARY record"	""	"rs312262707"	"0"	""	""	"g.43774642_43774659del"	""	"pathogenic (recessive)"	""
"0000001484"	"0"	"50"	"21"	"45196108"	"45196108"	"subst"	"0"	"00015"	"CSTB_000014"	"g.45196108C>A"	"unknown"	""	""	""	""	"SUMMARY record"	""	"rs11553836"	""	""	""	"g.43776227C>A"	""	"VUS"	""
"0000001485"	"0"	"50"	"21"	"45194586"	"45194586"	"subst"	"0.00120604"	"00015"	"CSTB_000015"	"g.45194586C>T"	"0.001 1000Gen"	""	""	""	""	"SUMMARY record"	""	"rs143153487"	""	""	""	"g.43774705C>T"	""	"VUS"	""
"0000001486"	"0"	"50"	"21"	"45194568"	"45194568"	"subst"	"0"	"00015"	"CSTB_000016"	"g.45194568C>G"	"0.000 1000Gen"	""	""	""	""	"SUMMARY record"	""	"rs140799752"	""	""	""	"g.43774687C>G"	""	"VUS"	""
"0000001487"	"0"	"50"	"21"	"45194550"	"45194550"	"subst"	"4.06088E-6"	"00015"	"CSTB_000017"	"g.45194550A>G"	"0.001 1000Gen"	""	""	""	""	"SUMMARY record"	""	"rs200236513"	""	""	""	"g.43774669A>G"	""	"VUS"	""
"0000001488"	"0"	"50"	"21"	"45194199"	"45194199"	"subst"	"4.87314E-5"	"00015"	"CSTB_000018"	"g.45194199C>T"	"unknown"	""	""	""	""	"SUMMARY record"	""	"rs199549401"	""	""	""	"g.43774318C>T"	""	"VUS"	""
"0000001489"	"0"	"50"	"21"	"45194196"	"45194196"	"subst"	"1.21825E-5"	"00015"	"CSTB_000019"	"g.45194196C>T"	"0.000 1000Gen"	""	""	""	""	"SUMMARY record"	""	"rs147307021"	""	""	""	"g.43774315C>T"	""	"VUS"	""
"0000001490"	"0"	"50"	"21"	"45194172"	"45194172"	"subst"	"4.06055E-6"	"00015"	"CSTB_000020"	"g.45194172A>C"	"0.001 1000Gen"	""	""	""	""	"SUMMARY record"	""	"rs200577790"	""	""	""	"g.43774291A>C"	""	"VUS"	""
"0000001491"	"0"	"50"	"21"	"45194118"	"45194118"	"subst"	"8.12117E-6"	"00015"	"CSTB_000021"	"g.45194118T>G"	"0.001 1000Gen"	""	""	""	""	"SUMMARY record"	""	"rs138149594"	""	""	""	"g.43774237T>G"	""	"VUS"	""
"0000001492"	"0"	"50"	"21"	"45194111"	"45194111"	"subst"	"0"	"00015"	"CSTB_000022"	"g.45194111G>C"	"1.000 1000Gen"	""	""	""	""	"SUMMARY record"	""	"rs138337167"	""	""	""	"g.43774230G>C"	""	"VUS"	""
"0000017200"	"0"	"70"	"21"	"0"	"0"	""	"0"	"00015"	"CSTB_000023"	"g.?"	""	""	""	""	""	"SUMMARY record"	""	""	""	""	""	""	""	"likely pathogenic (recessive)"	""
"0000017201"	"0"	"70"	"21"	"0"	"0"	""	"0"	"00015"	"CSTB_000024"	"g.?"	""	""	""	""	""	"SUMMARY record"	""	""	""	""	""	""	""	"likely pathogenic (recessive)"	""
"0000062638"	"1"	"10"	"21"	"45193990"	"45193990"	"subst"	"0"	"01164"	"CSTB_000024"	"g.45193990T>C"	""	""	""	""	""	"Germline"	""	"rs9446"	"0"	""	""	"g.43774109T>C"	""	"benign"	""
"0000062639"	"1"	"50"	"21"	"45194586"	"45194586"	"subst"	"0.00120604"	"01164"	"CSTB_000015"	"g.45194586C>T"	""	""	""	""	"PolyPhen-2: benign"	"Germline"	""	""	"0"	""	""	"g.43774705C>T"	""	"VUS"	""
"0000062640"	"1"	"10"	"21"	"45194502"	"45194502"	"subst"	"0.000154604"	"01164"	"CSTB_000025"	"g.45194502C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774621C>T"	""	"benign"	""
"0000062641"	"1"	"10"	"21"	"45196162"	"45196162"	"subst"	"0"	"01164"	"CSTB_000026"	"g.45196162C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.43776281C>T"	""	"benign"	""
"0000140545"	"3"	"50"	"21"	"45194162"	"45194162"	"dup"	"0"	"01811"	"CSTB_000027"	"g.45194162dup"	""	"{PMID:O\'Brien 2017:28378817}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.43774281dup"	""	"VUS"	""
"0000140548"	"3"	"50"	"21"	"45194162"	"45194162"	"dup"	"0"	"01811"	"CSTB_000027"	"g.45194162dup"	""	"{PMID:O\'Brien 2017:28378817}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.43774281dup"	""	"VUS"	""
"0000150696"	"3"	"90"	"21"	"45196141"	"45196141"	"subst"	"0"	"00006"	"CSTB_000003"	"g.45196141C>G"	""	"{PMID:Tarailo-Graovac 2016:27276562}, {DOI:Tarailo-Graovac 2016:10.1056/NEJMoa1515792}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.43776260C>G"	""	"pathogenic"	""
"0000188405"	"0"	"50"	"21"	"45194178"	"45194178"	"subst"	"3.65453E-5"	"02192"	"CSTB_000005"	"g.45194178G>A"	"1/194 cases RE"	"{PMID:Bobbili 2018:29358611}, {DOI:Bobbili 2018:10.1038/s41431-017-0034-x}"	""	""	"stopgain variant"	"Germline"	""	"rs74315442"	"0"	""	""	"g.43774297G>A"	""	"VUS"	""
"0000270612"	"0"	"30"	"21"	"45193990"	"45193990"	"subst"	"0"	"02326"	"CSTB_000024"	"g.45193990T>C"	""	""	""	"CSTB(NM_000100.3):c.*93A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774109T>C"	""	"likely benign"	""
"0000270613"	"0"	"10"	"21"	"45194586"	"45194586"	"subst"	"0.00120604"	"02326"	"CSTB_000015"	"g.45194586C>T"	""	""	""	"CSTB(NM_000100.3):c.121G>A (p.V41M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774705C>T"	""	"benign"	""
"0000270614"	"0"	"90"	"21"	"45194582"	"45194582"	"subst"	"4.06062E-6"	"02326"	"CSTB_000011"	"g.45194582G>T"	""	""	""	"CSTB(NM_000100.3):c.125C>A (p.S42*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774701G>T"	""	"pathogenic"	""
"0000270615"	"0"	"50"	"21"	"45194508"	"45194508"	"subst"	"0.000309031"	"02326"	"CSTB_000028"	"g.45194508G>C"	""	""	""	"CSTB(NM_000100.3):c.168+31C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774627G>C"	""	"VUS"	""
"0000270616"	"0"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"02326"	"CSTB_000001"	"g.45194641C>G"	""	""	""	"CSTB(NM_000100.3):c.67-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic"	""
"0000274513"	"0"	"30"	"21"	"45194586"	"45194586"	"subst"	"0.00120604"	"01943"	"CSTB_000015"	"g.45194586C>T"	""	""	""	"CSTB(NM_000100.3):c.121G>A (p.V41M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774705C>T"	""	"likely benign"	""
"0000274514"	"0"	"90"	"21"	"45194178"	"45194178"	"subst"	"3.65453E-5"	"01943"	"CSTB_000005"	"g.45194178G>A"	""	""	""	"CSTB(NM_000100.3):c.202C>T (p.R68*), CSTB(NM_000100.4):c.202C>T (p.R68*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774297G>A"	""	"pathogenic"	""
"0000274515"	"0"	"90"	"21"	"45194168"	"45194168"	"subst"	"0"	"01943"	"CSTB_000008"	"g.45194168T>G"	""	""	""	"CSTB(NM_000100.3):c.212A>C (p.Q71P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.43774287T>G"	""	"pathogenic"	""
"0000570753"	"0"	"50"	"21"	"45194168"	"45194168"	"subst"	"0"	"02327"	"CSTB_000008"	"g.45194168T>G"	""	""	""	"CSTB(NM_000100.3):c.212A>C (p.Q71P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43774287T>G"	""	"VUS"	""
"0000570754"	"0"	"30"	"21"	"45194560"	"45194560"	"subst"	"1.62437E-5"	"01943"	"CSTB_000029"	"g.45194560C>T"	""	""	""	"CSTB(NM_000100.3):c.147G>A (p.A49=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43774679C>T"	""	"likely benign"	""
"0000570755"	"0"	"50"	"21"	"45196117"	"45196117"	"subst"	"0"	"01943"	"CSTB_000030"	"g.45196117C>T"	""	""	""	"CSTB(NM_000100.3):c.34G>A (p.A12T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.43776236C>T"	""	"VUS"	""
"0000809407"	"0"	"50"	"21"	"45194211"	"45194211"	"subst"	"4.06121E-6"	"02325"	"CSTB_000031"	"g.45194211C>A"	""	""	""	"CSTB(NM_000100.4):c.169G>T (p.V57L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000842218"	"1"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Pennacchio 1996:8596935}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842219"	"0"	"90"	"21"	"45194178"	"45194178"	"subst"	"3.65453E-5"	"00006"	"CSTB_000005"	"g.45194178G>A"	""	"{PMID:Pennacchio 1996:8596935}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842220"	"3"	"90"	"21"	"45196141"	"45196141"	"subst"	"0"	"00006"	"CSTB_000003"	"g.45196141C>G"	""	"{PMID:Lalioti 1997:9012407}"	""	"426G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842221"	"1"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lalioti 1997:9012407}"	""	"1924G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842222"	"2"	"50"	"21"	"45193988"	"45193988"	"subst"	"0"	"00006"	"CSTB_000024"	"g.45193988C>T"	""	"{PMID:Lalioti 1997:9012407}"	""	"2575A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000842223"	"3"	"50"	"21"	"45193990"	"45193990"	"subst"	"0"	"00006"	"CSTB_000024"	"g.45193990T>C"	""	"{PMID:Lalioti 1997:9012407}"	""	"2575A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000842224"	"3"	"50"	"21"	"45193990"	"45193990"	"subst"	"0"	"00006"	"CSTB_000024"	"g.45193990T>C"	""	"{PMID:Lalioti 1997:9012407}"	""	"2575A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000842225"	"1"	"30"	"21"	"45196136"	"45196136"	"subst"	"0.0031134"	"00006"	"CSTB_000032"	"g.45196136C>A"	""	"{PMID:Lalioti 1997:9012407}"	""	"431G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000842226"	"1"	"90"	"21"	"45194165"	"45194166"	"del"	"0"	"00006"	"CSTB_000006"	"g.45194165_45194166del"	""	"{PMID:Lalioti 1997:9012407}"	""	"del2399TC"	""	"Germline"	""	""	"0"	""	""	"g.43774284_43774285del"	""	"pathogenic (recessive)"	""
"0000842227"	"1"	"90"	"21"	"45194213"	"45194213"	"subst"	"0"	"00006"	"CSTB_000012"	"g.45194213T>C"	""	"{PMID:Lalioti 1997:9012407}"	""	"2352A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842228"	"3"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lalioti 1997:9012407}"	""	"1924G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842229"	"1"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lalioti 1997:9012407}"	""	"1924G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842230"	"1"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lalioti 1997:9012407}"	""	"1924G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842231"	"0"	"30"	"21"	"45196349"	"45196360"	"del"	"0"	"00006"	"CSTB_000034"	"g.45196349_45196360del"	"0.33"	"{PMID:Lalioti 1997:9012407}"	""	"-185_-174del, (CCCCGCCCCGCG)2"	""	"Germline"	""	""	"0"	""	""	"g.43776468_43776479del"	""	"likely benign"	""
"0000842240"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(864_876)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(nd), [75] [76]"	"one case [75];[76], one [76];[77] alleles"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(864_876)]"	""	"pathogenic (recessive)"	""
"0000842241"	"10"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(888_900)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(900), [77] [78]"	"one case [77], one [78] allele"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(888_900)]"	""	"pathogenic (recessive)"	""
"0000842242"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(660_684)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(nd), [58] [60]"	"one case [58], one [60] allele (mother [57])"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(660_684)]"	""	"pathogenic (recessive)"	""
"0000842243"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[864]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(nd), [75]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[864]"	""	"pathogenic (recessive)"	""
"0000842244"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[852]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A5(850) [74]"	"maternal allele [75]"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[852]"	""	"pathogenic (recessive)"	""
"0000842245"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[864]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A7(900), [75]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[864]"	""	"pathogenic (recessive)"	""
"0000842246"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(600)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A4(600)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(600)]"	""	"pathogenic (recessive)"	""
"0000842247"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[756]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A4(650), [66]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[756]"	""	"pathogenic (recessive)"	""
"0000842248"	"11"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842249"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(756_780)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(650), [68], [66]"	"one case [68], one case [66] allele (father [66])"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(756_780)]"	""	"pathogenic (recessive)"	""
"0000842250"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[816]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(700), [71]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[816]"	""	"pathogenic (recessive)"	""
"0000842251"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[540]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A8(700) [48]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[540]"	""	"pathogenic (recessive)"	""
"0000842252"	"11"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842253"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[852"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A2(750), [74]"	"paternal allele [75]"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[852]"	""	"pathogenic (recessive)"	""
"0000842254"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(650)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A3(650)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(650)]"	""	"pathogenic (recessive)"	""
"0000842255"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(600_900)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A1(nd)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(600_900)]"	""	"pathogenic (recessive)"	""
"0000842256"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(600_900)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A1(nd)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(600_900)]"	""	"pathogenic (recessive)"	""
"0000842257"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(600_900)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A1(nd)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(600_900)]"	""	"pathogenic (recessive)"	""
"0000842258"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(600)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A4(600)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(600)]"	""	"pathogenic (recessive)"	""
"0000842259"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(700)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A1(700)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(700)]"	""	"pathogenic (recessive)"	""
"0000842260"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(876_888)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(900), [76] [77]"	"one case [75];[76], one [76];[77] alleles"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(876_888)]"	""	"pathogenic (recessive)"	""
"0000842261"	"20"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[792)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(750), [69]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[792]"	""	"pathogenic (recessive)"	""
"0000842262"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(840_864)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(850), [73] [75]"	"1 case [73], one [75] allele )mother [74])"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(840_864)]"	""	"pathogenic (recessive)"	""
"0000842263"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(750)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A4(750)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(750)]"	""	"pathogenic (recessive)"	""
"0000842264"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[648]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A6(nd), [57]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[648]"	""	"pathogenic (recessive)"	""
"0000842265"	"21"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842266"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(804_816)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A2(nd), [70] [71]"	"3 cases [71], one case [70] allele (mother [71])"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(804_816)]"	""	"pathogenic (recessive)"	""
"0000842267"	"21"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842268"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(756_768)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A1(650), [66] [67]"	"2 cases [66], one [67 allele (maternal allele [67])"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(756_768)]"	""	"pathogenic (recessive)"	""
"0000842269"	"21"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842270"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(650)]"	""	"{PMID:Lafreniere 1997:9054946}"	""	"A1(650)"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(650)]"	""	"pathogenic (recessive)"	""
"0000842271"	"2"	"90"	"21"	"45194178"	"45194178"	"subst"	"3.65453E-5"	"00006"	"CSTB_000005"	"g.45194178G>A"	""	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774297G>A"	""	"pathogenic (recessive)"	""
"0000842272"	"2"	"90"	"21"	"45194165"	"45194166"	"del"	"0"	"00006"	"CSTB_000006"	"g.45194165_45194166del"	""	"{PMID:Lafreniere 1997:9054946}"	""	"313-314del"	""	"Germline"	""	""	"0"	""	""	"g.43774284_43774285del"	""	"pathogenic (recessive)"	""
"0000842273"	"2"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Lafreniere 1997:9054946}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842274"	"1"	"90"	"21"	"45194165"	"45194166"	"del"	"0"	"00006"	"CSTB_000006"	"g.45194165_45194166del"	""	"{PMID:Bespalova 1997:9342192}"	""	"2404delTC"	"unknown variant 2nd chromosome; reduced RNA expression"	"Germline"	""	""	"0"	""	""	"g.43774284_43774285del"	""	"pathogenic (recessive)"	""
"0000842295"	"1"	"90"	"21"	"45194178"	"45194178"	"subst"	"3.65453E-5"	"00006"	"CSTB_000005"	"g.45194178G>A"	""	"{PMID:De Haan 2004:15329070}"	""	"R68X"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842296"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:De Haan 2004:15329070}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842297"	"1"	"70"	"21"	"45194168"	"45194168"	"subst"	"0"	"00006"	"CSTB_000008"	"g.45194168T>G"	""	"{PMID:De Haan 2004:15329070}"	""	"308A>C (Q71P)"	"not in 342 controls"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000842298"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:De Haan 2004:15329070}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842299"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:De Haan 2004:15329070}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842300"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:De Haan 2004:15329070}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842301"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:De Haan 2004:15329070}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842302"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:De Haan 2004:15329070}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842303"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:De Haan 2004:15329070}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842304"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(552_612)]"	""	"{PMID:Mazarib 2001:11571333}"	""	"repeat[49_54]"	"consanguineous family with different lengths of the expansion (instability)"	"Germline"	"yes"	""	"0"	""	""	"g.43776444_43776479insN[(552_612)]"	""	"pathogenic (recessive)"	""
"0000842306"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(624_984)]"	""	"{PMID:Joensuu 2007:17003839}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(624_984)]"	""	"pathogenic (recessive)"	""
"0000842307"	"2"	"90"	"21"	"45194558"	"45194558"	"subst"	"0"	"00006"	"CSTB_000009"	"g.45194558C>T"	""	"{PMID:Joensuu 2007:17003839}"	""	"G50E"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842308"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(624_984)]"	""	"{PMID:Joensuu 2007:17003839}"	""	"expanded repeat"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(624_984)]"	""	"pathogenic (recessive)"	""
"0000842309"	"2"	"90"	"21"	"45194523"	"45194540"	"del"	"0"	"00006"	"CSTB_000013"	"g.45194523_45194540del"	""	"{PMID:Joensuu 2007:17003839}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774642_43774659del"	""	"pathogenic (recessive)"	""
"0000842310"	"1"	"50"	"21"	"45194539"	"45194539"	"subst"	"0"	"00006"	"CSTB_000007"	"g.45194539C>T"	""	"{PMID:Kagitani-Shimono 2002:11814737}"	""	"2027G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000842311"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(500)]"	""	"{PMID:Kagitani-Shimono 2002:11814737}"	""	"expansion 500bp"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(500)]"	""	"pathogenic (recessive)"	""
"0000842312"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(800)]"	""	"{PMID:Kagitani-Shimono 2002:11814737}"	""	"expansion 800bp"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(800)]"	""	"pathogenic (recessive)"	""
"0000842313"	"3"	"90"	"21"	"45196085"	"45196085"	"subst"	"0"	"00006"	"CSTB_000010"	"g.45196085C>T"	""	"{PMID:Pinto 2012:22154554}"	""	""	"not in 150 controls; both transcripts about equal amount"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000842324"	"1"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Canafoglia 2012:23205931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842325"	"1"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Canafoglia 2012:23205931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842326"	"1"	"90"	"21"	"45194641"	"45194641"	"subst"	"0.000146211"	"00006"	"CSTB_000001"	"g.45194641C>G"	""	"{PMID:Canafoglia 2012:23205931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774760C>G"	""	"pathogenic (recessive)"	""
"0000842327"	"1"	"90"	"21"	"45194523"	"45194540"	"del"	"0"	"00006"	"CSTB_000013"	"g.45194523_45194540del"	""	"{PMID:Canafoglia 2012:23205931}"	""	"168+1_18del"	""	"Germline"	""	""	"0"	""	""	"g.43774642_43774659del"	""	"pathogenic (recessive)"	""
"0000842328"	"1"	"90"	"21"	"45194571"	"45194571"	"subst"	"3.24865E-5"	"00006"	"CSTB_000023"	"g.45194571G>A"	""	"{PMID:Canafoglia 2012:23205931}"	""	"c.133C>T"	""	"Germline"	""	""	"0"	""	""	"g.43774690G>A"	""	"pathogenic (recessive)"	""
"0000842329"	"1"	"90"	"21"	"45194518"	"45194537"	"delins"	"0"	"00006"	"CSTB_000024"	"g.45194518_45194537delinsTT"	""	"{PMID:Canafoglia 2012:23205931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774637_43774656delinsTT"	""	"pathogenic (recessive)"	""
"0000842330"	"1"	"90"	"21"	"45194518"	"45194537"	"delins"	"0"	"00006"	"CSTB_000024"	"g.45194518_45194537delinsTT"	""	"{PMID:Canafoglia 2012:23205931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774637_43774656delinsTT"	""	"pathogenic (recessive)"	""
"0000842331"	"1"	"90"	"21"	"45194518"	"45194537"	"delins"	"0"	"00006"	"CSTB_000024"	"g.45194518_45194537delinsTT"	""	"{PMID:Canafoglia 2012:23205931}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.43774637_43774656delinsTT"	""	"pathogenic (recessive)"	""
"0000842332"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842333"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842334"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842335"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842336"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842337"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842338"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842339"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842340"	"3"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[?]"	""	"{PMID:Canafoglia 2012:23205931}"	""	"expanded"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[?]"	""	"pathogenic (recessive)"	""
"0000842341"	"10"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[768]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A4(650), [67]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[768]"	""	"pathogenic (recessive)"	""
"0000842342"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[900]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A5(850), [78]"	"paternal allele [77]"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[900]"	""	"pathogenic (recessive)"	""
"0000842344"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[900]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A5(850), [78]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[900]"	""	"pathogenic (recessive)"	""
"0000842345"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(816_840)]"	""	"{PMID:Lafreniere 1997:9054946}, {PMID:Larson 1999:10484766}"	""	"A5(850), [71] [73]"	"one case [71], one [73] allele"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(816_840)]"	""	"pathogenic (recessive)"	""
"0000842346"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(744_756)]"	""	"{PMID:Larson 1999:10484766}"	""	"[66] [65]"	"one case [56];[66], one [58];[65] allele"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(744_756)]"	""	"pathogenic (recessive)"	""
"0000842347"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(636_660)]"	""	"{PMID:Larson 1999:10484766}"	""	"[56] [58]"	"one case [56];[66], one [58];[65] allele"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(636_660)]"	""	"pathogenic (recessive)"	""
"0000842348"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[708]"	""	"{PMID:Larson 1999:10484766}"	""	"[62]"	"one case [62];[65], one [62];[66] alleles"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[708]"	""	"pathogenic (recessive)"	""
"0000842349"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(744_756)]"	""	"{PMID:Larson 1999:10484766}"	""	"[65] [66]"	"one case [62];[65], one [62];[66] alleles"	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(744_756)]"	""	"pathogenic (recessive)"	""
"0000842350"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[816]"	""	"{PMID:Larson 1999:10484766}"	""	"[71]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[816]"	""	"pathogenic (recessive)"	""
"0000842351"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[924]"	""	"{PMID:Larson 1999:10484766}"	""	"[80]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[924]"	""	"pathogenic (recessive)"	""
"0000842352"	"1"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[720]"	""	"{PMID:Larson 1999:10484766}"	""	"[63]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[720]"	""	"pathogenic (recessive)"	""
"0000842353"	"2"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[900]"	""	"{PMID:Larson 1999:10484766}"	""	"[78]"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[900]"	""	"pathogenic (recessive)"	""
"0000842354"	"21"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(1500)]"	""	"{PMID:Nokelainen 2000:10927802}"	""	"1.5 kb expansion"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(1500)]"	""	"pathogenic (recessive)"	""
"0000842355"	"11"	"90"	"21"	"45196325"	"45196360"	"ins"	"0"	"00006"	"CSTB_000000"	"g.45196325_45196360insN[(1600)]"	""	"{PMID:Nokelainen 2000:10927802}"	""	"1.6kb expansion"	""	"Germline"	""	""	"0"	""	""	"g.43776444_43776479insN[(1600)]"	""	"pathogenic (recessive)"	""
"0001027344"	"0"	"90"	"21"	"45194178"	"45194178"	"subst"	"3.65453E-5"	"02329"	"CSTB_000005"	"g.45194178G>A"	""	""	""	"CSTB(NM_000100.3):c.202C>T (p.R68*), CSTB(NM_000100.4):c.202C>T (p.R68*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CSTB
## Count = 142
"{{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}}"
"0000001426"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.=|red"	"p.=|red"	"_1"
"0000001427"	"00025580"	"70"	"10"	"0"	"10"	"0"	"c.10G>C"	"r.(10g>c)"	"p.(Gly4Arg)"	"1"
"0000001435"	"00025580"	"70"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(202c>u)"	"p.(Arg68*)"	"3"
"0000001443"	"00025580"	"70"	"169"	"-2"	"169"	"-2"	"c.169-2A>G"	"r.spl"	"p.?"	"2i"
"0000001454"	"00025580"	"90"	"218"	"0"	"219"	"0"	"c.218_219del"	"r.218_219del"	"p.Leu73Profs*3"	"3"
"0000001455"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl?"	"p.?"	"1i"
"0000001457"	"00025580"	"70"	"168"	"0"	"168"	"0"	"c.168G>A"	"r.spl?"	"p.?"	"2"
"0000001460"	"00025580"	"70"	"212"	"0"	"212"	"0"	"c.212A>C"	"r.(212a>c)"	"p.(Gln71Pro)"	"3"
"0000001464"	"00025580"	"90"	"149"	"0"	"149"	"0"	"c.149G>A"	"r.149g>a"	"p.Gly50Glu"	"2"
"0000001465"	"00025580"	"90"	"66"	"0"	"66"	"0"	"c.66G>A"	"r.spl"	"p.0"	"1"
"0000001466"	"00025580"	"90"	"125"	"0"	"125"	"0"	"c.125C>A"	"r.125c>a"	"p.Ser42*"	"2"
"0000001467"	"00025580"	"90"	"168"	"2"	"168"	"19"	"c.168+2_168+19del"	"r.[67_168del,168_169ins168+19_168+43]"	"p.[Val23_Lys56del, Val57Glufs*28]"	"2i"
"0000001484"	"00025580"	"50"	"43"	"0"	"43"	"0"	"c.43G>T"	"r.(43g>u)"	"p.(Glu15*)"	"1"
"0000001485"	"00025580"	"50"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.(121g>a)"	"p.(Val41Met)"	"2"
"0000001486"	"00025580"	"50"	"139"	"0"	"139"	"0"	"c.139G>C"	"r.(139g>c)"	"p.(Val47Leu)"	"2"
"0000001487"	"00025580"	"50"	"157"	"0"	"157"	"0"	"c.157T>C"	"r.(157u>c)"	"p.(Tyr53His)"	"2"
"0000001488"	"00025580"	"50"	"181"	"0"	"181"	"0"	"c.181G>A"	"r.(181g>a)"	"p.(Asp61Asn)"	"3"
"0000001489"	"00025580"	"50"	"184"	"0"	"184"	"0"	"c.184G>A"	"r.(184g>a)"	"p.(Glu62Lys)"	"3"
"0000001490"	"00025580"	"50"	"208"	"0"	"208"	"0"	"c.208T>G"	"r.(208u>g)"	"p.(Phe70Val)"	"3"
"0000001491"	"00025580"	"50"	"262"	"0"	"262"	"0"	"c.262A>C"	"r.(262a>c)"	"p.(Asn88His)"	"3"
"0000001492"	"00025580"	"50"	"269"	"0"	"269"	"0"	"c.269C>G"	"r.(269c>g)"	"p.(Ala90Gly)"	"3"
"0000017200"	"00025580"	"70"	"136"	"0"	"136"	"0"	"c.136C>T"	"r.(136c.u)"	"p.(Gln46*)"	"2"
"0000017201"	"00025580"	"70"	"168"	"2"	"168"	"21"	"c.168+2_168+21delinsAA"	"r.spl"	"p.?"	"2i"
"0000062638"	"00025580"	"10"	"390"	"0"	"390"	"0"	"c.*93A>G"	"r.(?)"	"p.(=)"	"3"
"0000062639"	"00025580"	"50"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.(?)"	"p.(Val41Met)"	"2"
"0000062640"	"00025580"	"10"	"168"	"37"	"168"	"37"	"c.168+37G>A"	"r.(?)"	"p.(=)"	"2i"
"0000062641"	"00025580"	"10"	"-12"	"0"	"-12"	"0"	"c.-12G>A"	"r.(?)"	"p.(=)"	"1"
"0000140545"	"00025580"	"50"	"218"	"0"	"218"	"0"	"c.218dup"	"r.(?)"	"p.(His75Serfs*2)"	"3"
"0000140548"	"00025580"	"50"	"218"	"0"	"218"	"0"	"c.218dup"	"r.(?)"	"p.(His75Serfs*2)"	"3"
"0000150696"	"00025580"	"90"	"10"	"0"	"10"	"0"	"c.10G>C"	"r.(?)"	"p.(Gly4Arg)"	""
"0000188405"	"00025580"	"50"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68*)"	""
"0000270612"	"00025580"	"30"	"390"	"0"	"390"	"0"	"c.*93A>G"	"r.(=)"	"p.(=)"	""
"0000270613"	"00025580"	"10"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.(?)"	"p.(Val41Met)"	""
"0000270614"	"00025580"	"90"	"125"	"0"	"125"	"0"	"c.125C>A"	"r.(?)"	"p.(Ser42Ter)"	""
"0000270615"	"00025580"	"50"	"168"	"31"	"168"	"31"	"c.168+31C>G"	"r.(=)"	"p.(=)"	""
"0000270616"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl?"	"p.?"	"1i"
"0000274513"	"00025580"	"30"	"121"	"0"	"121"	"0"	"c.121G>A"	"r.(?)"	"p.(Val41Met)"	""
"0000274514"	"00025580"	"90"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68Ter)"	""
"0000274515"	"00025580"	"90"	"212"	"0"	"212"	"0"	"c.212A>C"	"r.(?)"	"p.(Gln71Pro)"	""
"0000570753"	"00025580"	"50"	"212"	"0"	"212"	"0"	"c.212A>C"	"r.(?)"	"p.(Gln71Pro)"	""
"0000570754"	"00025580"	"30"	"147"	"0"	"147"	"0"	"c.147G>A"	"r.(?)"	"p.(Ala49=)"	""
"0000570755"	"00025580"	"50"	"34"	"0"	"34"	"0"	"c.34G>A"	"r.(?)"	"p.(Ala12Thr)"	""
"0000809407"	"00025580"	"50"	"169"	"0"	"169"	"0"	"c.169G>T"	"r.(?)"	"p.(Val57Leu)"	""
"0000842218"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.0"	"p.0"	"1i"
"0000842219"	"00025580"	"90"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68*)"	""
"0000842220"	"00025580"	"90"	"10"	"0"	"10"	"0"	"c.10G>C"	"r.(?)"	"p.(Gly4Arg)"	""
"0000842221"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842222"	"00025580"	"50"	"390"	"0"	"390"	"0"	"c.*93A>G"	"r.(?)"	"p.(=)"	""
"0000842223"	"00025580"	"50"	"390"	"0"	"390"	"0"	"c.*93A>G"	"r.(?)"	"p.(=)"	""
"0000842224"	"00025580"	"50"	"390"	"0"	"390"	"0"	"c.*93A>G"	"r.(?)"	"p.(=)"	""
"0000842225"	"00025580"	"30"	"15"	"0"	"15"	"0"	"c.15G>T"	"r.(?)"	"p.(=)"	""
"0000842226"	"00025580"	"90"	"218"	"0"	"219"	"0"	"c.218_219del"	"r.(?)"	"p.(Leu73Profs*3)"	""
"0000842227"	"00025580"	"90"	"169"	"-2"	"169"	"-2"	"c.169-2A>G"	"r.spl"	"p.?"	"2i"
"0000842228"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842229"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842230"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842231"	"00025580"	"30"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842240"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842241"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842242"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842243"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842244"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842245"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842246"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842247"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842248"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842249"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842250"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842251"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842252"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842253"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842254"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842255"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842256"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842257"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842258"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842259"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842260"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842261"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842262"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842263"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842264"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842265"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842266"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842267"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842268"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842269"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842270"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842271"	"00025580"	"90"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68*)"	""
"0000842272"	"00025580"	"90"	"218"	"0"	"219"	"0"	"c.218_219del"	"r.(?)"	"p.(Leu73Profs*3)"	""
"0000842273"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.spl"	"p.?"	"1i"
"0000842274"	"00025580"	"90"	"218"	"0"	"219"	"0"	"c.218_219del"	"r.218_219del"	"p.Leu73Profs*3"	""
"0000842295"	"00025580"	"90"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68*)"	""
"0000842296"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842297"	"00025580"	"70"	"212"	"0"	"212"	"0"	"c.212A>C"	"r.(?)"	"p.(Gln71Pro)"	""
"0000842298"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842299"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842300"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842301"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842302"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842303"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842304"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842306"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842307"	"00025580"	"90"	"149"	"0"	"149"	"0"	"c.149G>A"	"r.(?)"	"p.(Gly50Glu)"	""
"0000842308"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842309"	"00025580"	"90"	"168"	"2"	"168"	"19"	"c.168+2_168+19del"	"r.[67_168del,168_169ins168+19_168+43]"	"p.[Val23_Lys56del, Val57fs]"	"2i"
"0000842310"	"00025580"	"50"	"168"	"0"	"168"	"0"	"c.168G>A"	"r.spl?"	"p.?"	"2"
"0000842311"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842312"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842313"	"00025580"	"90"	"66"	"0"	"66"	"0"	"c.66G>A"	"r.[66g>a,[66g>a;65_66ins66+1_66+364]]"	"p.0"	""
"0000842324"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.67_168del"	"p.Val23_Lys56del"	"1i"
"0000842325"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.67_168del"	"p.Val23_Lys56del"	"1i"
"0000842326"	"00025580"	"90"	"67"	"-1"	"67"	"-1"	"c.67-1G>C"	"r.67_168del"	"p.Val23_Lys56del"	"1i"
"0000842327"	"00025580"	"90"	"168"	"2"	"168"	"19"	"c.168+2_168+19del"	"r.spl"	"p.[(Val23_Lys56del,Val57Glufs*28)]"	"2i"
"0000842328"	"00025580"	"90"	"136"	"0"	"136"	"0"	"c.136C>T"	"r.spl"	"p.(Gln46*)"	"2"
"0000842329"	"00025580"	"90"	"168"	"2"	"168"	"21"	"c.168+2_168+21delinsAA"	"r.spl"	"p.?"	"2i"
"0000842330"	"00025580"	"90"	"168"	"2"	"168"	"21"	"c.168+2_168+21delinsAA"	"r.spl"	"p.?"	"2i"
"0000842331"	"00025580"	"90"	"168"	"2"	"168"	"21"	"c.168+2_168+21delinsAA"	"r.spl"	"p.?"	"2i"
"0000842332"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842333"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842334"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842335"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842336"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842337"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842338"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842339"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842340"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842341"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842342"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842344"	"00025580"	"90"	""	"0"	""	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842345"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)|red"	"p.(=)|red"	"_1"
"0000842346"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842347"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842348"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842349"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842350"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842351"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842352"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842353"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842354"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000842355"	"00025580"	"90"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0001027344"	"00025580"	"90"	"202"	"0"	"202"	"0"	"c.202C>T"	"r.(?)"	"p.(Arg68Ter)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 106
"{{screeningid}}"	"{{variantid}}"
"0000035519"	"0000062638"
"0000035520"	"0000062639"
"0000035521"	"0000062640"
"0000035522"	"0000062641"
"0000087372"	"0000140545"
"0000087375"	"0000140548"
"0000092416"	"0000150696"
"0000117268"	"0000188405"
"0000406036"	"0000842218"
"0000406037"	"0000842219"
"0000406038"	"0000842220"
"0000406039"	"0000842221"
"0000406039"	"0000842222"
"0000406040"	"0000842223"
"0000406041"	"0000842224"
"0000406042"	"0000842225"
"0000406043"	"0000842226"
"0000406044"	"0000842227"
"0000406045"	"0000842228"
"0000406046"	"0000842229"
"0000406047"	"0000842230"
"0000406048"	"0000842231"
"0000406055"	"0000842240"
"0000406055"	"0000842260"
"0000406056"	"0000842241"
"0000406056"	"0000842261"
"0000406057"	"0000842242"
"0000406057"	"0000842345"
"0000406058"	"0000842243"
"0000406058"	"0000842262"
"0000406059"	"0000842244"
"0000406059"	"0000842342"
"0000406060"	"0000842245"
"0000406060"	"0000842344"
"0000406061"	"0000842246"
"0000406061"	"0000842263"
"0000406062"	"0000842247"
"0000406062"	"0000842341"
"0000406063"	"0000842248"
"0000406063"	"0000842264"
"0000406064"	"0000842249"
"0000406064"	"0000842265"
"0000406065"	"0000842250"
"0000406065"	"0000842266"
"0000406066"	"0000842251"
"0000406066"	"0000842267"
"0000406067"	"0000842252"
"0000406067"	"0000842268"
"0000406068"	"0000842253"
"0000406068"	"0000842269"
"0000406069"	"0000842254"
"0000406069"	"0000842270"
"0000406070"	"0000842255"
"0000406071"	"0000842256"
"0000406072"	"0000842257"
"0000406072"	"0000842271"
"0000406073"	"0000842258"
"0000406073"	"0000842272"
"0000406074"	"0000842259"
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