### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ASL)
# 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}}"
"ASL"	"argininosuccinate lyase"	"7"	"q11.21"	"unknown"	"NG_009288.1"	"UD_129724882505"	""	"https://www.LOVD.nl/ASL"	""	"1"	"746"	"435"	"608310"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/ASL_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2009-03-20 00:00:00"	"00006"	"2017-07-25 16:33:17"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00002982"	"ASL"	"transcript variant 2"	"001"	"NM_000048.3"	""	"NP_000039.2"	""	""	""	"-111"	"1826"	"1395"	"65540776"	"65558330"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01663"	"ASAD"	"argininosuccinic aciduria deficiency"	"AR"	"207900"	""	"autosomal recessive"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-05-25 11:44:31"
"02554"	"metabolic syndrome"	"metabolic syndrome"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-01-15 15:48:08"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"ASL"	"00139"
"ASL"	"01663"


## Individuals ## Do not remove or alter this header ##
## Count = 76
"{{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}}"
"00080936"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00108488"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108489"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Morocco"	""	"0"	""	""	""	""
"00108490"	""	""	""	"1"	""	"00006"	""	""	""	""	"Poland"	""	"0"	""	""	""	""
"00108491"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00108492"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108493"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108494"	""	""	""	"1"	""	"00006"	""	""	""	"yes"	""	""	"0"	""	""	""	""
"00108495"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108496"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00108497"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Germany"	""	"0"	""	""	"Egyptian"	""
"00108498"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108499"	""	""	""	"1"	""	"00006"	""	""	"F"	""	""	""	"0"	""	""	"Arabic"	""
"00108500"	""	""	""	"1"	""	"00006"	""	""	"F"	""	""	""	"0"	""	""	"Arabic"	""
"00108501"	""	""	""	"1"	""	"00006"	""	""	"F"	""	""	""	"0"	""	""	"Arabic"	""
"00108502"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Turkey"	""	"0"	""	""	""	""
"00108503"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00108504"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00108505"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00108506"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Bulgaria"	""	"0"	""	""	""	""
"00108507"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"China"	""	"0"	""	""	""	""
"00108508"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Czech Republic"	""	"0"	""	""	""	""
"00108509"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00108510"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00108511"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00108512"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00108513"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00108514"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"China"	""	"0"	""	""	""	""
"00108515"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Spain"	""	"0"	""	""	"Gypsy"	""
"00108516"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108517"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108518"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Italy"	""	"0"	""	""	""	""
"00108519"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108520"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108521"	""	""	""	"3"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108522"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Turkey"	""	"0"	""	""	""	""
"00108523"	""	""	""	"2"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108524"	""	""	""	"1"	""	"00006"	""	""	""	"yes"	""	""	"0"	""	""	""	""
"00108525"	""	""	""	"1"	""	"00006"	""	""	""	"yes"	""	""	"0"	""	""	""	""
"00108526"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108527"	""	""	""	"1"	""	"00006"	""	""	""	"yes"	""	""	"0"	""	""	""	""
"00108528"	""	""	""	"1"	""	"00006"	""	""	""	""	"Turkey"	""	"0"	""	""	""	""
"00108529"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Belgium"	""	"0"	""	""	""	""
"00108530"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108531"	""	""	""	"67"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108532"	""	""	""	"1"	""	"00006"	""	""	""	""	"Turkey"	""	"0"	""	""	""	""
"00108533"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Israel"	""	"0"	""	""	"Arabic"	""
"00108534"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108535"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Lebanon"	""	"0"	""	""	""	""
"00108536"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Finland"	""	"0"	""	""	""	""
"00108537"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00108538"	""	""	""	"2"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108539"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108540"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00108541"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Israel"	""	"0"	""	""	"Arabic"	""
"00108542"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00248293"	""	""	""	"1"	""	"00006"	"{PMID:Haberle 2004:15164414}"	"prenatal diagnosis, fetus affected"	""	""	""	""	"0"	""	""	"Druze"	"Fam11"
"00248294"	""	""	""	"1"	""	"00006"	"{PMID:Haberle 2004:15164414}"	"prenatal diagnosis, fetus not affected"	""	""	"Kuwait"	""	"0"	""	""	""	"Fam12"
"00294487"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294488"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00294489"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295559"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00450341"	""	""	""	"1"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat9"
"00450342"	""	""	""	"2"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	"family, 2 affected sibs"	""	""	"Spain"	""	"0"	""	""	""	"Pat29"
"00450343"	""	""	"00450342"	"1"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	"sib"	""	""	"Spain"	""	"0"	""	""	""	"Pat30"
"00450344"	""	""	""	"1"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat39"
"00450345"	""	""	""	"1"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat47"
"00450346"	""	""	""	"1"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat71"
"00450347"	""	""	""	"1"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat81"
"00450472"	""	""	""	"1"	""	"04221"	"{PMID:Vela-Amieva 2024:39519275}"	""	"M"	"no"	"Mexico"	""	""	""	""	"Mexican"	"3bINP-014"
"00452259"	""	""	""	"2"	""	"00006"	"{PMID:Wang 2019:31737040}"	"screening 401,660 newborns for inborn errors of metabolism"	""	""	"China"	""	"0"	""	""	""	""
"00452307"	""	""	""	"1"	""	"00006"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamXXXIIIPat46"
"00452308"	""	""	""	"1"	""	"00006"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamXXXIVPat47"
"00452309"	""	""	""	"1"	""	"00006"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Argentina"	""	"0"	""	""	""	"FamXXXVPat48"
"00452310"	""	""	""	"1"	""	"00006"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"China"	""	"0"	""	""	""	"FamXXXVIPat49"
"00453609"	""	""	""	"1"	""	"00006"	"{PMID:Navarrete 2019:30626930}"	"newborn screening"	""	""	"Spain"	""	"0"	""	""	""	"Pat25"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 76
"{{individualid}}"	"{{diseaseid}}"
"00080936"	"01663"
"00108488"	"01663"
"00108489"	"01663"
"00108490"	"01663"
"00108491"	"01663"
"00108492"	"01663"
"00108493"	"01663"
"00108494"	"01663"
"00108495"	"00198"
"00108496"	"01663"
"00108497"	"01663"
"00108498"	"01663"
"00108499"	"01663"
"00108500"	"01663"
"00108501"	"01663"
"00108502"	"01663"
"00108503"	"01663"
"00108504"	"01663"
"00108505"	"01663"
"00108506"	"01663"
"00108507"	"01663"
"00108508"	"01663"
"00108509"	"01663"
"00108510"	"01663"
"00108511"	"01663"
"00108512"	"01663"
"00108513"	"01663"
"00108514"	"01663"
"00108515"	"01663"
"00108516"	"00198"
"00108517"	"00198"
"00108518"	"01663"
"00108519"	"01663"
"00108520"	"00198"
"00108521"	"00198"
"00108522"	"01663"
"00108523"	"00198"
"00108524"	"01663"
"00108525"	"01663"
"00108526"	"01663"
"00108527"	"00198"
"00108528"	"01663"
"00108529"	"01663"
"00108530"	"00198"
"00108531"	"00198"
"00108532"	"01663"
"00108533"	"01663"
"00108534"	"00198"
"00108535"	"01663"
"00108536"	"01663"
"00108537"	"00198"
"00108538"	"00198"
"00108539"	"00198"
"00108540"	"00198"
"00108541"	"01663"
"00108542"	"01663"
"00248293"	"01663"
"00248294"	"01663"
"00294487"	"00198"
"00294488"	"00198"
"00294489"	"00198"
"00295559"	"00198"
"00450341"	"00198"
"00450342"	"00198"
"00450343"	"00198"
"00450344"	"00198"
"00450345"	"00198"
"00450346"	"00198"
"00450347"	"00198"
"00450472"	"01663"
"00452259"	"00198"
"00452307"	"00198"
"00452308"	"00198"
"00452309"	"00198"
"00452310"	"00198"
"00453609"	"02554"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01663, 02554
## Count = 22
"{{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}}"
"0000060505"	"01663"	"00080936"	"01758"	"Familial, autosomal recessive"	""	"Argininosuccinic aciduria (OMIM:207900)"	""	""	""	""	""	""	""	""	""	""	""
"0000086073"	"01663"	"00108494"	"00006"	"Isolated (sporadic)"	""	"late-onset"	""	""	""	""	""	""	""	""	""	""	""
"0000086074"	"01663"	"00108524"	"00006"	"Isolated (sporadic)"	""	"neonatal-onset"	""	""	""	""	""	""	""	""	""	""	""
"0000086075"	"01663"	"00108525"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000086077"	"00198"	"00108527"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000187302"	"01663"	"00248293"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"ASL deficiency"	""
"0000187303"	"01663"	"00248294"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"ASL deficiency"	""
"0000223124"	"00198"	"00295559"	"01164"	"Unknown"	""	"Abnormality of central motor function (HP:0011442); Progressive cerebellar ataxia (HP:0002073)"	""	""	""	""	""	""	""	""	""	""	""
"0000339402"	"00198"	"00450341"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., late onset, neurologic damage"	""	""	""	""	""	""	""	""	"ASAD"	"urea cycle disorder"	""
"0000339403"	"00198"	"00450342"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., late onset, neurologic damage"	""	""	""	""	""	""	""	""	"ASAD"	"urea cycle disorder"	""
"0000339404"	"00198"	"00450343"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., late onset, neurologic damage"	""	""	""	""	""	""	""	""	"ASAD"	"urea cycle disorder"	""
"0000339405"	"00198"	"00450344"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., prenatal, asymptomatic, neurologic damage"	""	""	""	""	""	""	""	""	"ASAD"	"urea cycle disorder"	""
"0000339406"	"00198"	"00450345"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., late onset, neurologic damage"	""	""	""	""	""	""	""	""	"ASAD"	"urea cycle disorder"	""
"0000339407"	"00198"	"00450346"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., neonatal onset, neurologic damage"	""	""	""	""	""	""	""	""	"ASAD"	"urea cycle disorder"	""
"0000339408"	"00198"	"00450347"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., newborn screening, asymptomatic, no neurologic damage"	""	""	""	""	""	""	""	""	"ASAD"	"urea cycle disorder"	""
"0000339532"	"01663"	"00450472"	"04221"	"Familial, autosomal recessive"	""	"Moderate intellectual disability"	""	"<00y00m02d"	""	""	""	""	""	""	"argininosuccinic aciduria deficiency"	"Argininosuccinic aciduria"	""
"0000340862"	"00198"	"00452259"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"ASLD"	"argininosuccinate aciduria"	""
"0000340911"	"00198"	"00452307"	"00006"	"Familial, autosomal recessive"	""	"deceased"	"<3d"	""	""	""	""	""	""	""	"ASAD"	"neonatal argininosuccinic aciduria"	""
"0000340912"	"00198"	"00452308"	"00006"	"Familial, autosomal recessive"	""	"alive"	"20m"	""	""	""	""	""	""	""	"ASAD"	"late onset argininosuccinic aciduria"	""
"0000340913"	"00198"	"00452309"	"00006"	"Familial, autosomal recessive"	""	"neurologic damage"	"<3d"	""	""	""	""	""	""	""	"ASAD"	"neonatal argininosuccinic aciduria"	""
"0000340914"	"00198"	"00452310"	"00006"	"Familial, autosomal recessive"	""	"deceased"	"<3d"	""	""	""	""	""	""	""	"ASAD"	"neonatal argininosuccinic aciduria"	""
"0000342266"	"02554"	"00453609"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., newborn screening tandem mass spectrometry dried blood spots"	""	""	""	""	""	""	""	""	"ASAD"	"inborn error of metabolism"	""


## Screenings ## Do not remove or alter this header ##
## Count = 76
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000081048"	"00080936"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000108955"	"00108488"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108956"	"00108489"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108957"	"00108490"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108958"	"00108491"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108959"	"00108492"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108960"	"00108493"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108961"	"00108494"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108962"	"00108495"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000108963"	"00108496"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108964"	"00108497"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108965"	"00108498"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108966"	"00108499"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108967"	"00108500"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108968"	"00108501"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108969"	"00108502"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108970"	"00108503"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108971"	"00108504"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108972"	"00108505"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108973"	"00108506"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108974"	"00108507"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108975"	"00108508"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108976"	"00108509"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108977"	"00108510"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108978"	"00108511"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108979"	"00108512"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108980"	"00108513"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108981"	"00108514"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108982"	"00108515"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108983"	"00108516"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000108984"	"00108517"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000108985"	"00108518"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108986"	"00108519"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108987"	"00108520"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000108988"	"00108521"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2009-04-04 21:28:35"	"MCA;SEQ"	"DNA"	""	""
"0000108989"	"00108522"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108990"	"00108523"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2009-04-04 21:26:52"	"MCA;SEQ"	"DNA"	""	""
"0000108991"	"00108524"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"SEQ"	"DNA"	""	""
"0000108992"	"00108525"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108993"	"00108526"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108994"	"00108527"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000108995"	"00108528"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108996"	"00108529"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000108997"	"00108530"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2009-04-04 21:30:20"	"SEQ"	"DNA"	""	""
"0000108998"	"00108531"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2009-04-04 21:29:45"	"MCA;SEQ"	"DNA"	""	""
"0000108999"	"00108532"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000109000"	"00108533"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000109001"	"00108534"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000109002"	"00108535"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000109003"	"00108536"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000109004"	"00108537"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000109005"	"00108538"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2009-04-04 21:27:16"	"MCA;SEQ"	"DNA"	""	""
"0000109006"	"00108539"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000109007"	"00108540"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000109008"	"00108541"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000109009"	"00108542"	"1"	"00006"	"00006"	"2009-04-04 21:25:35"	"00006"	"2011-01-24 21:52:23"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000249398"	"00248293"	"1"	"00006"	"00006"	"2019-07-21 09:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000249399"	"00248294"	"1"	"00006"	"00006"	"2019-07-21 09:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000295655"	"00294487"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295656"	"00294488"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295657"	"00294489"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296729"	"00295559"	"1"	"01164"	"01164"	"2020-03-18 10:48:08"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000451938"	"00450341"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""
"0000451939"	"00450342"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""
"0000451940"	"00450343"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""
"0000451941"	"00450344"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""
"0000451942"	"00450345"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""
"0000451943"	"00450346"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""
"0000451944"	"00450347"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""
"0000452068"	"00450472"	"1"	"04221"	"04221"	"2024-05-28 00:54:47"	""	""	"SEQ-NG-I"	"DNA"	"gDNA from peripheral blood"	"whole exome sequencing"
"0000453861"	"00452259"	"1"	"00006"	"00006"	"2024-07-12 14:11:07"	""	""	"SEQ"	"DNA"	""	""
"0000453909"	"00452307"	"1"	"00006"	"00006"	"2024-07-14 11:23:51"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000453910"	"00452308"	"1"	"00006"	"00006"	"2024-07-14 11:23:51"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000453911"	"00452309"	"1"	"00006"	"00006"	"2024-07-14 11:23:51"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000453912"	"00452310"	"1"	"00006"	"00006"	"2024-07-14 11:23:51"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000455221"	"00453609"	"1"	"00006"	"00006"	"2024-09-11 15:27:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"119-gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 71
"{{screeningid}}"	"{{geneid}}"
"0000081048"	"ASL"
"0000108955"	"ASL"
"0000108956"	"ASL"
"0000108957"	"ASL"
"0000108958"	"ASL"
"0000108959"	"ASL"
"0000108960"	"ASL"
"0000108961"	"ASL"
"0000108962"	"ASL"
"0000108963"	"ASL"
"0000108964"	"ASL"
"0000108965"	"ASL"
"0000108966"	"ASL"
"0000108967"	"ASL"
"0000108968"	"ASL"
"0000108969"	"ASL"
"0000108970"	"ASL"
"0000108971"	"ASL"
"0000108972"	"ASL"
"0000108973"	"ASL"
"0000108974"	"ASL"
"0000108975"	"ASL"
"0000108976"	"ASL"
"0000108977"	"ASL"
"0000108978"	"ASL"
"0000108979"	"ASL"
"0000108980"	"ASL"
"0000108981"	"ASL"
"0000108982"	"ASL"
"0000108983"	"ASL"
"0000108984"	"ASL"
"0000108985"	"ASL"
"0000108986"	"ASL"
"0000108987"	"ASL"
"0000108988"	"ASL"
"0000108989"	"ASL"
"0000108990"	"ASL"
"0000108991"	"ASL"
"0000108992"	"ASL"
"0000108993"	"ASL"
"0000108994"	"ASL"
"0000108995"	"ASL"
"0000108996"	"ASL"
"0000108997"	"ASL"
"0000108998"	"ASL"
"0000108999"	"ASL"
"0000109000"	"ASL"
"0000109001"	"ASL"
"0000109002"	"ASL"
"0000109003"	"ASL"
"0000109004"	"ASL"
"0000109005"	"ASL"
"0000109006"	"ASL"
"0000109007"	"ASL"
"0000109008"	"ASL"
"0000109009"	"ASL"
"0000249398"	"ASL"
"0000249399"	"ASL"
"0000451938"	"ASL"
"0000451939"	"ASL"
"0000451940"	"ASL"
"0000451941"	"ASL"
"0000451942"	"ASL"
"0000451943"	"ASL"
"0000451944"	"ASL"
"0000452068"	"ASL"
"0000453861"	"ASL"
"0000453909"	"ASL"
"0000453910"	"ASL"
"0000453911"	"ASL"
"0000453912"	"ASL"


## 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 = 151
"{{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}}"
"0000130134"	"3"	"90"	"7"	"65554680"	"65554680"	"subst"	"0"	"01758"	"ASL_000038"	"g.65554680C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089693C>T"	""	"pathogenic"	"ACMG"
"0000174976"	"1"	"10"	"7"	"65551762"	"65551762"	"subst"	"0.00110848"	"00006"	"ASL_000001"	"g.65551762C>A"	"1/94"	"{PMID:Mitchell 2009:18666241}"	""	"Arg186Arg"	""	"Germline"	""	""	"0"	""	""	"g.66086775C>A"	""	"benign"	""
"0000174977"	"1"	"10"	"7"	"65551821"	"65551821"	"subst"	"0.051458"	"00006"	"ASL_000002"	"g.65551821C>T"	""	""	""	""	""	"Germline"	""	"rs12536292"	"0"	""	""	"g.66086834C>T"	""	"benign"	""
"0000174978"	"1"	"10"	"7"	"65551821"	"65551821"	"subst"	"0.051458"	"00006"	"ASL_000002"	"g.65551821C>T"	"3/94"	"{PMID:Mitchell 2009:18666241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66086834C>T"	""	"benign"	""
"0000174979"	"1"	"10"	"7"	"65552792"	"65552792"	"subst"	"0.0226416"	"00006"	"ASL_000003"	"g.65552792A>T"	"2/94"	"{PMID:Mitchell 2009:18666241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66087805A>T"	""	"benign"	""
"0000174980"	"1"	"10"	"7"	"65554265"	"65554265"	"subst"	"0"	"00006"	"ASL_000029"	"g.65554265T>C"	""	"{PMID:Stadler 2001:11486903}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089278T>C"	""	"benign"	""
"0000174981"	"2"	"10"	"7"	"65554265"	"65554265"	"subst"	"0"	"00006"	"ASL_000029"	"g.65554265T>C"	""	"{PMID:Stadler 2001:11486903}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089278T>C"	""	"benign"	""
"0000174982"	"1"	"10"	"7"	"65554352"	"65554352"	"subst"	"0.750801"	"00006"	"ASL_000004"	"g.65554352C>T"	""	""	""	""	""	"Germline"	""	"rs160647"	"0"	""	""	"g.66089365C>T"	""	"benign"	""
"0000174983"	"1"	"10"	"7"	"65554352"	"65554352"	"subst"	"0.750801"	"00006"	"ASL_000004"	"g.65554352C>T"	"67/94"	"{PMID:Mitchell 2009:18666241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089365C>T"	""	"benign"	""
"0000174984"	"1"	"10"	"7"	"65557564"	"65557564"	"subst"	"0.0218625"	"00006"	"ASL_000005"	"g.65557564C>T"	"2/94"	"{PMID:Mitchell 2009:18666241}"	""	"His388His"	""	"Germline"	""	""	"0"	""	""	"g.66092577C>T"	""	"benign"	""
"0000174985"	"1"	"10"	"7"	"65557708"	"65557708"	"subst"	"0.00465555"	"00006"	"ASL_000006"	"g.65557708G>A"	"1/94"	""	""	""	""	"Germline"	""	"rs2292938"	"0"	""	""	"g.66092721G>A"	""	"benign"	""
"0000174986"	"1"	"10"	"7"	"65557708"	"65557708"	"subst"	"0.00465555"	"00006"	"ASL_000006"	"g.65557708G>A"	"1/94"	"{PMID:Mitchell 2009:18666241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66092721G>A"	""	"benign"	""
"0000174987"	"0"	"50"	"7"	"65547430"	"65547430"	"subst"	"0"	"00006"	"ASL_000007"	"g.65547430C>T"	""	""	""	""	""	"Germline"	""	"rs28940585"	"0"	""	""	"g.66082443C>T"	""	"VUS"	""
"0000174988"	"0"	"50"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	""	""	""	""	"Germline"	""	"rs28941473"	"0"	""	""	"g.66086751G>A"	""	"VUS"	""
"0000174989"	"0"	"50"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000008"	"g.65554101A>G"	""	""	""	""	"enzyme activity below 3%;  sporadic, consanguineous parents"	"Germline"	""	"rs28941472"	"0"	""	""	"g.66089114A>G"	""	"VUS"	""
"0000174990"	"0"	"50"	"7"	"65557065"	"65557065"	"subst"	"6.14341E-5"	"00006"	"ASL_000033"	"g.65557065C>T"	""	""	""	""	""	"Germline"	""	"rs28940287"	"0"	""	""	"g.66092078C>T"	""	"VUS"	""
"0000174991"	"0"	"50"	"7"	"65557553"	"65557553"	"subst"	"8.22551E-5"	"00006"	"ASL_000033"	"g.65557553C>T"	""	""	""	""	""	"Germline"	""	"rs28940286"	"0"	""	""	"g.66092566C>T"	""	"VUS"	""
"0000174992"	"2"	"90"	"7"	"0"	"0"	""	"0"	"00006"	"ASL_000000"	"g.?"	""	"{PMID:Barbosa 1991:01705937}"	""	""	"RNA 2nd allele reduced expression"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000174993"	"0"	"90"	"7"	"65546812"	"65546812"	"subst"	"0.00118395"	"00006"	"ASL_000009"	"g.65546812G>A"	""	"{PMID:Sampaleanu 2001:11747432}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66081825G>A"	""	"pathogenic"	""
"0000174994"	"1"	"90"	"7"	"65546952"	"65546952"	"subst"	"0"	"00006"	"ASL_000008"	"g.65546952G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66081965G>A"	""	"pathogenic"	""
"0000174995"	"2"	"90"	"7"	"65546952"	"65546952"	"subst"	"0"	"00006"	"ASL_000008"	"g.65546952G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66081965G>A"	""	"pathogenic"	""
"0000174996"	"1"	"90"	"7"	"65547404"	"65547404"	"subst"	"0"	"00006"	"ASL_000010"	"g.65547404A>C"	""	"{PMID:Linnebank 2000:10896281}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66082417A>C"	""	"pathogenic"	""
"0000174997"	"1"	"90"	"7"	"65547407"	"65547407"	"subst"	"0"	"00006"	"ASL_000011"	"g.65547407A>G"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082420A>G"	""	"pathogenic"	""
"0000174998"	"1"	"90"	"7"	"65547407"	"65547407"	"subst"	"0"	"00006"	"ASL_000011"	"g.65547407A>G"	""	"{PMID:Walker 1997:09045711}"	"SfaNI+"	""	""	"Germline"	""	""	"0"	""	""	"g.66082420A>G"	""	"pathogenic"	""
"0000174999"	"2"	"90"	"7"	"65547407"	"65547407"	"subst"	"0"	"00006"	"ASL_000011"	"g.65547407A>G"	""	"{PMID:Walker 1997:09045711}"	"SfaNI+"	""	""	"Germline"	""	""	"0"	""	""	"g.66082420A>G"	""	"pathogenic"	""
"0000175000"	"1"	"90"	"7"	"65547407"	"65547407"	"subst"	"0"	"00006"	"ASL_000011"	"g.65547407A>G"	""	"{PMID:Walker 1997:09045711}"	"SfaNI+"	""	""	"Germline"	""	""	"0"	""	""	"g.66082420A>G"	""	"pathogenic"	""
"0000175001"	"1"	"90"	"7"	"65547430"	"65547430"	"subst"	"0"	"00006"	"ASL_000007"	"g.65547430C>T"	""	"{PMID:Walker 1990:02263616}, {OMIM608310:0001}"	""	""	"enzyme activity ~1%; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.66082443C>T"	""	"pathogenic"	""
"0000175002"	"2"	"90"	"7"	"65547430"	"65547430"	"subst"	"0"	"00006"	"ASL_000007"	"g.65547430C>T"	""	"{PMID:Walker 1990:02263616}, {OMIM608310:0001}"	""	""	"enzyme activity ~1%; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.66082443C>T"	""	"pathogenic"	""
"0000175003"	"1"	"90"	"7"	"65547867"	"65547867"	"del"	"0"	"00006"	"ASL_000012"	"g.65547867del"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082880del"	""	"pathogenic"	""
"0000175004"	"1"	"90"	"7"	"65547874"	"65547874"	"subst"	"0.000134272"	"00006"	"ASL_000013"	"g.65547874T>C"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66082887T>C"	""	"pathogenic"	""
"0000175005"	"1"	"90"	"7"	"65547906"	"65547906"	"subst"	"0"	"00006"	"ASL_000014"	"g.65547906C>T"	""	"{PMID:Barbosa 1991:01705937}"	"FokI+"	""	""	"Germline"	""	""	"0"	""	""	"g.66082919C>T"	""	"pathogenic"	""
"0000175006"	"2"	"90"	"7"	"65547906"	"65547906"	"subst"	"0"	"00006"	"ASL_000014"	"g.65547906C>T"	""	"{PMID:Barbosa 1991:01705937}"	"FokI+"	""	""	"Germline"	""	""	"0"	""	""	"g.66082919C>T"	""	"pathogenic"	""
"0000175007"	"2"	"90"	"7"	"65547912"	"65547912"	"subst"	"0.000126372"	"00006"	"ASL_000016"	"g.65547912C>T"	""	"{PMID:Linnebank 2000:10896281}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66082925C>T"	""	"pathogenic"	""
"0000175008"	"1"	"90"	"7"	"65547921"	"65547921"	"subst"	"0"	"00006"	"ASL_000015"	"g.65547921C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082934C>T"	""	"pathogenic"	""
"0000175009"	"2"	"90"	"7"	"65547921"	"65547921"	"subst"	"0"	"00006"	"ASL_000015"	"g.65547921C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082934C>T"	""	"pathogenic"	""
"0000175010"	"1"	"90"	"7"	"65547921"	"65547921"	"subst"	"0"	"00006"	"ASL_000015"	"g.65547921C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082934C>T"	""	"pathogenic"	""
"0000175011"	"2"	"90"	"7"	"65547921"	"65547921"	"subst"	"0"	"00006"	"ASL_000015"	"g.65547921C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082934C>T"	""	"pathogenic"	""
"0000175012"	"1"	"90"	"7"	"65547921"	"65547921"	"subst"	"0"	"00006"	"ASL_000015"	"g.65547921C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082934C>T"	""	"pathogenic"	""
"0000175013"	"2"	"90"	"7"	"65547921"	"65547921"	"subst"	"0"	"00006"	"ASL_000015"	"g.65547921C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66082934C>T"	""	"pathogenic"	""
"0000175014"	"2"	"90"	"7"	"65548107"	"65548107"	"subst"	"0.00237015"	"00006"	"ASL_000017"	"g.65548107C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083120C>T"	""	"pathogenic"	""
"0000175015"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175016"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175017"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175018"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175019"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175020"	"1"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175021"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175022"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175023"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175024"	"1"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175025"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175026"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175027"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175028"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175029"	"2"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"00006"	"ASL_000018"	"g.65548162G>A"	""	"{PMID:Linnenbank 2002:12384776}, {OMIM608310:0003}"	""	"IVS5+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000175030"	"1"	"90"	"7"	"65551586"	"65551586"	"subst"	"0"	"00006"	"ASL_000019"	"g.65551586T>C"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66086599T>C"	""	"pathogenic"	""
"0000175031"	"1"	"90"	"7"	"65551601"	"65551601"	"subst"	"0"	"00006"	"ASL_000020"	"g.65551601C>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086614C>A"	""	"pathogenic"	""
"0000175032"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000175033"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000175034"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000175035"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000175036"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0005}"	""	""	"enzyme activity 8 %"	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000175037"	"2"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0005}"	""	""	"enzyme activity 8 %"	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000175038"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000175039"	"1"	"90"	"7"	"65551751"	"65551751"	"subst"	"2.24529E-5"	"00006"	"ASL_000022"	"g.65551751G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086764G>A"	""	"pathogenic"	""
"0000175040"	"1"	"90"	"7"	"65551781"	"65551786"	"dup"	"0"	"00006"	"ASL_000023"	"g.65551781_65551786dup"	""	"{PMID:Linnenbank 2002:12384776}"	""	"580insAGCGGA"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66086794_66086799dup"	""	"pathogenic"	""
"0000175041"	"2"	"90"	"7"	"65551784"	"65551784"	"subst"	"0"	"00006"	"ASL_000024"	"g.65551784G>A"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}"	""	""	"enzyme activity 6 %"	"Germline"	""	""	"0"	""	""	"g.66086797G>A"	""	"pathogenic"	""
"0000175042"	"1"	"90"	"7"	"65551784"	"65551784"	"subst"	"0"	"00006"	"ASL_000024"	"g.65551784G>A"	""	"{PMID:Barbosa 1991:01705937}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66086797G>A"	""	"pathogenic"	""
"0000175043"	"1"	"90"	"7"	"65552783"	"65552783"	"subst"	"0"	"00006"	"ASL_000025"	"g.65552783G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	"IVS9+5G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66087796G>A"	""	"pathogenic"	""
"0000175044"	"2"	"90"	"7"	"65552783"	"65552783"	"subst"	"0"	"00006"	"ASL_000025"	"g.65552783G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	"IVS9+5G>A"	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66087796G>A"	""	"pathogenic"	""
"0000175045"	"1"	"90"	"7"	"65553837"	"65553837"	"subst"	"0"	"00006"	"ASL_000026"	"g.65553837C>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66088850C>A"	""	"pathogenic"	""
"0000175046"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000027"	"g.65554101A>G"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}"	""	""	"enzyme activity 6 %"	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175047"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000008"	"g.65554101A>G"	""	"{PMID:Walker 1997:09045711}, {OMIM608310:0002}"	""	""	"enzyme activity below 3%; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175048"	"2"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000008"	"g.65554101A>G"	""	"{PMID:Walker 1997:09045711}, {OMIM608310:0002}"	""	""	"enzyme activity below 3%; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175049"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000027"	"g.65554101A>G"	""	"{PMID:Barbosa 1991:01705937}"	"HpaII+"	""	""	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175050"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000027"	"g.65554101A>G"	""	"{PMID:Walker 1997:09045711}"	"NciI+"	""	"sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175051"	"2"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000027"	"g.65554101A>G"	""	"{PMID:Walker 1997:09045711}"	"NciI+"	""	"sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175052"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000027"	"g.65554101A>G"	""	"{PMID:Walker 1997:09045711}"	"NciI+"	""	""	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175053"	"0"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000027"	"g.65554101A>G"	""	"{PMID:Sampaleanu 2001:11747432}"	"NciI+"	""	""	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000175054"	"1"	"90"	"7"	"65554133"	"65554133"	"subst"	"0"	"00006"	"ASL_000028"	"g.65554133C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66089146C>T"	""	"pathogenic"	""
"0000175055"	"1"	"90"	"7"	"65554269"	"65554269"	"subst"	"0"	"00006"	"ASL_000030"	"g.65554269G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66089282G>A"	""	"pathogenic"	""
"0000175056"	"2"	"90"	"7"	"65554269"	"65554269"	"subst"	"0"	"00006"	"ASL_000030"	"g.65554269G>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66089282G>A"	""	"pathogenic"	""
"0000175057"	"2"	"90"	"7"	"65554665"	"65554677"	"del"	"0"	"00006"	"ASL_000031"	"g.65554665_65554677del"	""	"{PMID:Barbosa 1991:01705937}"	""	"1044del13"	""	"Germline"	""	""	"0"	""	""	"g.66089678_66089690del"	""	"pathogenic"	""
"0000175058"	"2"	"90"	"7"	"65554665"	"65554677"	"del"	"0"	"00006"	"ASL_000031"	"g.65554665_65554677del"	""	"{PMID:Walker 1997:09045711}"	""	"1044del13"	""	"Germline"	""	""	"0"	""	""	"g.66089678_66089690del"	""	"pathogenic"	""
"0000175059"	"1"	"90"	"7"	"65557052"	"65557052"	"dup"	"0"	"00006"	"ASL_000032"	"g.65557052dup"	""	"{PMID:Stadler 2001:11486903}"	""	"1121insC"	""	"Germline"	""	""	"0"	""	""	"g.66092065dup"	""	"pathogenic"	""
"0000175060"	"2"	"90"	"7"	"65557052"	"65557052"	"dup"	"0"	"00006"	"ASL_000032"	"g.65557052dup"	""	"{PMID:Stadler 2001:11486903}"	""	"1121insC"	""	"Germline"	""	""	"0"	""	""	"g.66092065dup"	""	"pathogenic"	""
"0000175061"	"1"	"90"	"7"	"65557065"	"65557065"	"subst"	"6.14341E-5"	"00006"	"ASL_000033"	"g.65557065C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0006}"	""	""	"enzyme activity 21 %"	"Germline"	""	""	"0"	""	""	"g.66092078C>T"	""	"pathogenic"	""
"0000175062"	"2"	"90"	"7"	"65557065"	"65557065"	"subst"	"6.14341E-5"	"00006"	"ASL_000033"	"g.65557065C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0006}"	""	""	"enzyme activity 21 %"	"Germline"	""	""	"0"	""	""	"g.66092078C>T"	""	"pathogenic"	""
"0000175063"	"1"	"90"	"7"	"65557553"	"65557553"	"subst"	"8.22551E-5"	"00006"	"ASL_000033"	"g.65557553C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}"	""	""	"enzyme activity 7 %"	"Germline"	""	""	"0"	""	""	"g.66092566C>T"	""	"pathogenic"	""
"0000175064"	"2"	"90"	"7"	"65557553"	"65557553"	"subst"	"8.22551E-5"	"00006"	"ASL_000033"	"g.65557553C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}"	""	""	"enzyme activity 7 %"	"Germline"	""	""	"0"	""	""	"g.66092566C>T"	""	"pathogenic"	""
"0000175065"	"1"	"90"	"7"	"65557553"	"65557553"	"subst"	"8.22551E-5"	"00006"	"ASL_000033"	"g.65557553C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}"	""	""	"enzyme activity 12 %"	"Germline"	""	""	"0"	""	""	"g.66092566C>T"	""	"pathogenic"	""
"0000175066"	"2"	"90"	"7"	"65557553"	"65557553"	"subst"	"8.22551E-5"	"00006"	"ASL_000033"	"g.65557553C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}, {OMIM608310:0004}"	""	""	"enzyme activity 12 %"	"Germline"	""	""	"0"	""	""	"g.66092566C>T"	""	"pathogenic"	""
"0000175067"	"2"	"90"	"7"	"65557593"	"65557593"	"subst"	"8.14976E-6"	"00006"	"ASL_000034"	"g.65557593C>A"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	"enzyme activity below 2%"	"Germline"	""	""	"0"	""	""	"g.66092606C>A"	""	"pathogenic"	""
"0000175068"	"2"	"90"	"7"	"65557593"	"65557593"	"subst"	"8.14976E-6"	"00006"	"ASL_000034"	"g.65557593C>A"	""	"{PMID:Walker 1997:09045711}"	"HaeIII-"	""	""	"Germline"	""	""	"0"	""	""	"g.66092606C>A"	""	"pathogenic"	""
"0000175069"	"1"	"90"	"7"	"65557779"	"65557779"	"subst"	"8.1369E-6"	"00006"	"ASL_000035"	"g.65557779C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}"	""	""	"enzyme activity 21 %"	"Germline"	""	""	"0"	""	""	"g.66092792C>T"	""	"pathogenic"	""
"0000175070"	"2"	"90"	"7"	"65557779"	"65557779"	"subst"	"8.1369E-6"	"00006"	"ASL_000035"	"g.65557779C>T"	""	"{PMID:Linnenbank 2002:12384776}, {PMID:Kleijer 2002:12408190}"	""	""	"enzyme activity 21 %"	"Germline"	""	""	"0"	""	""	"g.66092792C>T"	""	"pathogenic"	""
"0000175071"	"2"	"90"	"7"	"65557835"	"65557835"	"subst"	"4.08113E-6"	"00006"	"ASL_000036"	"g.65557835C>T"	""	"{PMID:Linnenbank 2002:12384776}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66092848C>T"	""	"pathogenic"	""
"0000175072"	"1"	"90"	"7"	"65557864"	"65557864"	"subst"	"0"	"00006"	"ASL_000037"	"g.65557864C>T"	""	"{PMID:Barbosa 1991:01705937}"	"ScrfI-"	""	""	"Germline"	""	""	"0"	""	""	"g.66092877C>T"	""	"pathogenic"	""
"0000175073"	"2"	"90"	"7"	"65557864"	"65557864"	"subst"	"0"	"00006"	"ASL_000037"	"g.65557864C>T"	""	"{PMID:Barbosa 1991:01705937}"	"ScrfI-"	""	""	"Germline"	""	""	"0"	""	""	"g.66092877C>T"	""	"pathogenic"	""
"0000246615"	"0"	"10"	"7"	"65552792"	"65552792"	"subst"	"0.0226416"	"02330"	"ASL_000003"	"g.65552792A>T"	""	""	""	"ASL(NM_001024943.2):c.718+14A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66087805A>T"	""	"benign"	""
"0000258374"	"0"	"10"	"7"	"65554698"	"65554698"	"subst"	"0.00619684"	"02330"	"ASL_000039"	"g.65554698C>G"	""	""	""	"ASL(NM_001024943.2):c.1062+16C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66089711C>G"	""	"benign"	""
"0000258375"	"0"	"10"	"7"	"65557564"	"65557564"	"subst"	"0.0218625"	"02330"	"ASL_000005"	"g.65557564C>T"	""	""	""	"ASL(NM_001024943.2):c.1164C>T (p.H388=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66092577C>T"	""	"benign"	""
"0000258376"	"0"	"90"	"7"	"65546812"	"65546812"	"subst"	"0.00118395"	"02330"	"ASL_000009"	"g.65546812G>A"	""	""	""	"ASL(NM_001024943.2):c.35G>A (p.R12Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66081825G>A"	""	"pathogenic"	""
"0000258377"	"0"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"02330"	"ASL_000018"	"g.65548162G>A"	""	""	""	"ASL(NM_000048.4):c.446+1G>A, ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000258378"	"0"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"02330"	"ASL_000021"	"g.65551738G>A"	""	""	""	"ASL(NM_001024943.2):c.532G>A (p.V178M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000258379"	"0"	"10"	"7"	"65551821"	"65551821"	"subst"	"0.051458"	"02330"	"ASL_000002"	"g.65551821C>T"	""	""	""	"ASL(NM_001024943.2):c.602+13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66086834C>T"	""	"benign"	""
"0000261123"	"0"	"90"	"7"	"65546812"	"65546812"	"subst"	"0.00118395"	"02326"	"ASL_000009"	"g.65546812G>A"	""	""	""	"ASL(NM_001024943.2):c.35G>A (p.R12Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66081825G>A"	""	"pathogenic"	""
"0000261124"	"0"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"02326"	"ASL_000018"	"g.65548162G>A"	""	""	""	"ASL(NM_000048.4):c.446+1G>A, ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000342051"	"0"	"50"	"7"	"65551627"	"65551627"	"subst"	"8.13742E-6"	"02327"	"ASL_000040"	"g.65551627C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.66086640C>T"	""	"VUS"	""
"0000532452"	"0"	"30"	"7"	"65547884"	"65547884"	"subst"	"0.000435501"	"01943"	"ASL_000043"	"g.65547884G>A"	""	""	""	"ASL(NM_001024943.1):c.309G>A (p.T103=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66082897G>A"	""	"likely benign"	""
"0000532453"	"0"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"01943"	"ASL_000018"	"g.65548162G>A"	""	""	""	"ASL(NM_000048.4):c.446+1G>A, ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000532454"	"0"	"90"	"7"	"65551571"	"65551571"	"subst"	"8.14127E-6"	"02325"	"ASL_000044"	"g.65551571G>A"	""	""	""	"ASL(NM_001024943.2):c.447-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66086584G>A"	""	"pathogenic"	""
"0000532455"	"0"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"02325"	"ASL_000021"	"g.65551738G>A"	""	""	""	"ASL(NM_001024943.2):c.532G>A (p.V178M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000532456"	"0"	"10"	"7"	"65551762"	"65551762"	"subst"	"0.00110848"	"01943"	"ASL_000001"	"g.65551762C>A"	""	""	""	"ASL(NM_001024943.1):c.556C>A (p.R186=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66086775C>A"	""	"benign"	""
"0000532457"	"0"	"30"	"7"	"65552792"	"65552792"	"subst"	"0.0226416"	"02327"	"ASL_000003"	"g.65552792A>T"	""	""	""	"ASL(NM_001024943.2):c.718+14A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66087805A>T"	""	"likely benign"	""
"0000532460"	"0"	"30"	"7"	"65557564"	"65557564"	"subst"	"0.0218625"	"02327"	"ASL_000005"	"g.65557564C>T"	""	""	""	"ASL(NM_001024943.2):c.1164C>T (p.H388=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66092577C>T"	""	"likely benign"	""
"0000578170"	"3"	"90"	"7"	"65547921"	"65547921"	"subst"	"0"	"00006"	"ASL_000015"	"g.65547921C>T"	""	"{PMID:Haberle 2004:15164414}"	""	"Q116X"	""	"Germline"	""	""	"0"	""	""	"g.66082934C>T"	""	"pathogenic (recessive)"	""
"0000578171"	"3"	"90"	"7"	"65553796"	"65553796"	"subst"	"0"	"00006"	"ASL_000041"	"g.65553796G>A"	""	"{PMID:Haberle 2004:15164414}"	""	"E241K"	""	"Germline"	""	""	"0"	""	""	"g.66088809G>A"	""	"pathogenic (recessive)"	""
"0000611172"	"0"	"30"	"7"	"65554081"	"65554081"	"subst"	"4.06607E-5"	"01943"	"ASL_000047"	"g.65554081G>C"	""	""	""	"ASL(NM_001024943.1):c.837G>C (p.T279=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66089094G>C"	""	"likely benign"	""
"0000652344"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"03575"	"ASL_000021"	"g.65551738G>A"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs28941473}"	"Germline"	""	"rs28941473"	"0"	""	""	"g.66086751G>A"	""	"pathogenic"	""
"0000652345"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"03575"	"ASL_000008"	"g.65554101A>G"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs28941472}"	"Germline"	""	"rs28941472"	"0"	""	""	"g.66089114A>G"	""	"pathogenic"	""
"0000652346"	"1"	"50"	"7"	"65557801"	"65557801"	"subst"	"0"	"03575"	"ASL_000048"	"g.65557801A>C"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs796051928}"	"Germline"	""	"rs796051928"	"0"	""	""	"g.66092814A>C"	""	"VUS"	""
"0000653427"	"0"	"50"	"7"	"65552748"	"65552748"	"subst"	"2.03094E-5"	"01164"	"ASL_000049"	"g.65552748A>G"	""	""	""	""	""	"Germline"	""	"rs143957662"	"0"	""	""	"g.66087761A>G"	""	"VUS"	"ACMG"
"0000655868"	"0"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"02327"	"ASL_000018"	"g.65548162G>A"	""	""	""	"ASL(NM_000048.4):c.446+1G>A, ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66083175G>A"	""	"pathogenic"	""
"0000655869"	"0"	"70"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"02327"	"ASL_000021"	"g.65551738G>A"	""	""	""	"ASL(NM_001024943.2):c.532G>A (p.V178M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.66086751G>A"	""	"likely pathogenic"	""
"0000678151"	"0"	"50"	"7"	"65546907"	"65546907"	"subst"	"0"	"02327"	"ASL_000050"	"g.65546907G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000721520"	"0"	"50"	"7"	"65548151"	"65548151"	"subst"	"1.63179E-5"	"01943"	"ASL_000051"	"g.65548151C>T"	""	""	""	"ASL(NM_001024943.1):c.436C>T (p.R146W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000803220"	"0"	"50"	"7"	"65546814"	"65546814"	"subst"	"4.06802E-6"	"01943"	"ASL_000052"	"g.65546814T>C"	""	""	""	"ASL(NM_001024943.1):c.37T>C (p.F13L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000977807"	"0"	"90"	"7"	"65548162"	"65548162"	"subst"	"4.90292E-5"	"01804"	"ASL_000018"	"g.65548162G>A"	""	""	""	"ASL(NM_000048.4):c.446+1G>A, ASL(NM_001024943.1):c.446+1G>A, ASL(NM_001024943.2):c.446+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000985857"	"1"	"90"	"7"	"65546910"	"65546910"	"subst"	"8.14637E-6"	"00006"	"ASL_000053"	"g.65546910T>A"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66081923T>A"	""	"pathogenic (dominant)"	""
"0000985858"	"3"	"90"	"7"	"65552341"	"65552341"	"subst"	"4.16195E-6"	"00006"	"ASL_000055"	"g.65552341C>G"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66087354C>G"	""	"pathogenic (dominant)"	""
"0000985859"	"3"	"90"	"7"	"65552341"	"65552341"	"subst"	"4.16195E-6"	"00006"	"ASL_000055"	"g.65552341C>G"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66087354C>G"	""	"pathogenic (dominant)"	""
"0000985860"	"3"	"90"	"7"	"65547913"	"65547913"	"subst"	"1.63175E-5"	"00006"	"ASL_000054"	"g.65547913G>A"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66082926G>A"	""	"pathogenic (dominant)"	""
"0000985861"	"1"	"90"	"7"	"65551738"	"65551738"	"subst"	"0.00030874"	"00006"	"ASL_000021"	"g.65551738G>A"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66086751G>A"	""	"pathogenic (dominant)"	""
"0000985862"	"3"	"90"	"7"	"65557074"	"65557074"	"subst"	"0"	"00006"	"ASL_000058"	"g.65557074G>T"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66092087G>T"	""	"pathogenic (dominant)"	""
"0000985863"	"1"	"90"	"7"	"65557065"	"65557065"	"subst"	"6.14341E-5"	"00006"	"ASL_000033"	"g.65557065C>T"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66092078C>T"	""	"pathogenic (dominant)"	""
"0000985921"	"2"	"90"	"7"	"65557871"	"65557871"	"subst"	"4.55313E-5"	"00006"	"ASL_000059"	"g.65557871G>A"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66092884G>A"	""	"pathogenic (recessive)"	""
"0000985923"	"2"	"90"	"7"	"65554145"	"65554145"	"subst"	"0"	"00006"	"ASL_000056"	"g.65554145G>A"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089158G>A"	""	"pathogenic (recessive)"	""
"0000985925"	"2"	"90"	"7"	"65554291"	"65554291"	"subst"	"0"	"00006"	"ASL_000057"	"g.65554291G>A"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089304G>A"	""	"pathogenic (recessive)"	""
"0000986020"	"3"	"70"	"7"	"65547356"	"65547356"	"subst"	"0"	"04221"	"ASL_000060"	"g.65547356T>C"	""	"{PMID:Balmer 2014:24166829}"	""	""	"Variant classified as per ACMG guidelines (Richards et al 2015) and to the recently developed ACMG scoring system (Tavtigian et al 2020)"	"Germline"	"yes"	"rs1027739421"	""	""	""	"g.66082369T>C"	"{CV:550394}"	"likely pathogenic (recessive)"	"ACMG"
"0000988623"	"3"	"70"	"7"	"65547906"	"65547906"	"subst"	"0"	"00006"	"ASL_000014"	"g.65547906C>T"	"2/2 case chromosomes"	"{PMID:Wang 2019:31737040}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66082919C>T"	""	"likely pathogenic"	""
"0000988677"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000008"	"g.65554101A>G"	"1/36 case chromosomes"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic (recessive)"	""
"0000988678"	"1"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000008"	"g.65554101A>G"	"1/36 case chromosomes"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic (recessive)"	""
"0000988679"	"3"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000008"	"g.65554101A>G"	"1/36 case chromosomes"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic (recessive)"	""
"0000988680"	"3"	"90"	"7"	"65554101"	"65554101"	"subst"	"0.000121951"	"00006"	"ASL_000008"	"g.65554101A>G"	"1/36 case chromosomes"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66089114A>G"	""	"pathogenic (recessive)"	""
"0000988683"	"2"	"90"	"7"	"65547903"	"65547903"	"subst"	"0"	"00006"	"ASL_000061"	"g.65547903G>T"	"15/30 case chromosomes"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66082916G>T"	""	"pathogenic (recessive)"	""
"0000988684"	"2"	"90"	"7"	"65548151"	"65548151"	"subst"	"1.63179E-5"	"00006"	"ASL_000051"	"g.65548151C>T"	"4/30 case chromosomes"	"{PMID:Silvera-Ruiz 2019:31426867}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66083164C>T"	""	"pathogenic (recessive)"	""
"0001007254"	"1"	"70"	"7"	"65557074"	"65557074"	"subst"	"0"	"00006"	"ASL_000058"	"g.65557074G>T"	""	"{PMID:Navarrete 2019:30626930}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66092087G>T"	""	"likely pathogenic"	""
"0001007377"	"2"	"70"	"7"	"65551745"	"65551745"	"subst"	"0"	"00006"	"ASL_000062"	"g.65551745T>G"	""	"{PMID:Navarrete 2019:30626930}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.66086758T>G"	""	"likely pathogenic"	""
"0001036482"	"0"	"50"	"7"	"65551577"	"65551577"	"subst"	"6.51105E-5"	"01804"	"ASL_000063"	"g.65551577G>A"	""	""	""	"ASL(NM_000048.4):c.452G>A (p.(Arg151His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046126"	"0"	"90"	"7"	"65547867"	"65547867"	"del"	"0"	"02325"	"ASL_000012"	"g.65547867del"	""	""	""	"ASL(NM_000048.4):c.292-1delG"	"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 ASL
## Count = 151
"{{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}}"
"0000130134"	"00002982"	"90"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Gln354*)"	""
"0000174976"	"00002982"	"10"	"556"	"0"	"556"	"0"	"c.556C>A"	"r.(?)"	"p.(=)"	"8"
"0000174977"	"00002982"	"10"	"602"	"13"	"602"	"13"	"c.602+13C>T"	"r.(?)"	"p.(=)"	"8i"
"0000174978"	"00002982"	"10"	"602"	"13"	"602"	"13"	"c.602+13C>T"	"r.(?)"	"p.(=)"	"8i"
"0000174979"	"00002982"	"10"	"718"	"14"	"718"	"14"	"c.718+14A>T"	"r.(?)"	"p.(=)"	"10i"
"0000174980"	"00002982"	"10"	"921"	"0"	"921"	"0"	"c.921T>C"	"r.921u>c"	"p.="	"13"
"0000174981"	"00002982"	"10"	"921"	"0"	"921"	"0"	"c.921T>C"	"r.921u>c"	"p.="	"13"
"0000174982"	"00002982"	"10"	"978"	"30"	"978"	"30"	"c.978+30C>T"	"r.(?)"	"p.(=)"	"13i"
"0000174983"	"00002982"	"10"	"978"	"30"	"978"	"30"	"c.978+30C>T"	"r.(?)"	"p.(=)"	"13i"
"0000174984"	"00002982"	"10"	"1164"	"0"	"1164"	"0"	"c.1164C>T"	"r.(?)"	"p.(=)"	"16"
"0000174985"	"00002982"	"10"	"1251"	"-47"	"1251"	"-47"	"c.1251-47G>A"	"r.(?)"	"p.(=)"	"16i"
"0000174986"	"00002982"	"10"	"1251"	"-47"	"1251"	"-47"	"c.1251-47G>A"	"r.(?)"	"p.(=)"	"16i"
"0000174987"	"00002982"	"50"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.(?)"	"p.(Arg95Cys)"	"4"
"0000174988"	"00002982"	"50"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Val178Met)"	"8"
"0000174989"	"00002982"	"50"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	"12"
"0000174990"	"00002982"	"50"	"1135"	"0"	"1135"	"0"	"c.1135C>T"	"r.(?)"	"p.(Arg379Cys)"	"15"
"0000174991"	"00002982"	"50"	"1153"	"0"	"1153"	"0"	"c.1153C>T"	"r.(?)"	"p.(Arg385Cys)"	"16"
"0000174992"	"00002982"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"1_17"
"0000174993"	"00002982"	"90"	"35"	"0"	"35"	"0"	"c.35G>A"	"r.35g>a"	"p.Arg12Gln"	"3"
"0000174994"	"00002982"	"90"	"175"	"0"	"175"	"0"	"c.175G>A"	"r.175g>a"	"p.Glu59Lys"	"3"
"0000174995"	"00002982"	"90"	"175"	"0"	"175"	"0"	"c.175G>A"	"r.175g>a"	"p.Glu59Lys"	"3"
"0000174996"	"00002982"	"90"	"257"	"0"	"257"	"0"	"c.257A>C"	"r.257a>c"	"p.Glu86Ala"	"4"
"0000174997"	"00002982"	"90"	"260"	"0"	"260"	"0"	"c.260A>G"	"r.260a>g"	"p.Asp87Gly"	"4"
"0000174998"	"00002982"	"90"	"260"	"0"	"260"	"0"	"c.260A>G"	"r.260a>g"	"p.Asp87Gly"	"4"
"0000174999"	"00002982"	"90"	"260"	"0"	"260"	"0"	"c.260A>G"	"r.260a>g"	"p.Asp87Gly"	"4"
"0000175000"	"00002982"	"90"	"260"	"0"	"260"	"0"	"c.260A>G"	"r.260a>g"	"p.Asp87Gly"	"4"
"0000175001"	"00002982"	"90"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.283c>u"	"p.Arg95Cys"	"4"
"0000175002"	"00002982"	"90"	"283"	"0"	"283"	"0"	"c.283C>T"	"r.283c>u"	"p.Arg95Cys"	"4"
"0000175003"	"00002982"	"90"	"292"	"0"	"292"	"0"	"c.292del"	"r.[292_348del, 29del]"	"p.[del19, fs*]"	"5"
"0000175004"	"00002982"	"90"	"299"	"0"	"299"	"0"	"c.299T>C"	"r.299del"	"p.Ile100Thr"	"5"
"0000175005"	"00002982"	"90"	"331"	"0"	"331"	"0"	"c.331C>T"	"r.331c>u"	"p.Arg111Trp"	"5"
"0000175006"	"00002982"	"90"	"331"	"0"	"331"	"0"	"c.331C>T"	"r.331c>u"	"p.Arg111Trp"	"5"
"0000175007"	"00002982"	"90"	"337"	"0"	"337"	"0"	"c.337C>T"	"r.337c>u"	"p.Arg113Trp"	"5"
"0000175008"	"00002982"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.292_348del"	"p.[Gln116*, del]"	"5"
"0000175009"	"00002982"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.292_348del"	"p.[Gln116*, del]"	"5"
"0000175010"	"00002982"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.292_348del"	"p.[Gln116*, del]"	"5"
"0000175011"	"00002982"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.292_348del"	"p.[Gln116*, del]"	"5"
"0000175012"	"00002982"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.292_348del"	"p.[Gln116*, del]"	"5"
"0000175013"	"00002982"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.292_348del"	"p.[Gln116*, del]"	"5"
"0000175014"	"00002982"	"90"	"392"	"0"	"392"	"0"	"c.392C>T"	"r.392c>u"	"p.Thr131Met"	"6"
"0000175015"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175016"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175017"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175018"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175019"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175020"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175021"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175022"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175023"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175024"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175025"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175026"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175027"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175028"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175029"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.349_446del"	"p.del21"	"6i"
"0000175030"	"00002982"	"90"	"461"	"0"	"461"	"0"	"c.461T>C"	"r.461u>c"	"p.Leu154Pro"	"7"
"0000175031"	"00002982"	"90"	"476"	"0"	"476"	"0"	"c.476C>A"	"r.476c>a"	"p.Thr159Asn"	"7"
"0000175032"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.532g>a"	"p.Val178Met"	"8"
"0000175033"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.532g>a"	"p.Val178Met"	"8"
"0000175034"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.532g>a"	"p.Val178Met"	"8"
"0000175035"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.532g>a"	"p.Val178Met"	"8"
"0000175036"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.532g>a"	"p.Val178Met"	"8"
"0000175037"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.532g>a"	"p.Val178Met"	"8"
"0000175038"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.532g>a"	"p.Val178Met"	"8"
"0000175039"	"00002982"	"90"	"545"	"0"	"545"	"0"	"c.545G>A"	"r.545g>a"	"p.Arg182Gln"	"8"
"0000175040"	"00002982"	"90"	"575"	"0"	"580"	"0"	"c.575_580dup"	"r.575_580dup"	"p.ins2"	"8"
"0000175041"	"00002982"	"90"	"578"	"0"	"578"	"0"	"c.578G>A"	"r.(?)"	"p.Arg193Gln"	"8"
"0000175042"	"00002982"	"90"	"578"	"0"	"578"	"0"	"c.578G>A"	"r.578g>a"	"p.Arg193Gln"	"8"
"0000175043"	"00002982"	"90"	"718"	"5"	"718"	"5"	"c.718+5G>A"	"r.656_718del"	"p.del19"	"10i"
"0000175044"	"00002982"	"90"	"718"	"5"	"718"	"5"	"c.718+5G>A"	"r.656_718del"	"p.del19"	"10i"
"0000175045"	"00002982"	"90"	"762"	"0"	"762"	"0"	"c.762C>A"	"r.(?)"	"p.Ser254Arg"	"11"
"0000175046"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.857a>g"	"p.Gln286Arg"	"12"
"0000175047"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	"12"
"0000175048"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	"12"
"0000175049"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.857a>g"	"p.Gln286Arg"	"12"
"0000175050"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.857a>g"	"p.Gln286Arg"	"12"
"0000175051"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.857a>g"	"p.Gln286Arg"	"12"
"0000175052"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.857a>g"	"p.Gln286Arg"	"12"
"0000175053"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.857a>g"	"p.Gln286Arg"	"12"
"0000175054"	"00002982"	"90"	"889"	"0"	"889"	"0"	"c.889C>T"	"r.889c>u"	"p.Arg297Trp"	"12"
"0000175055"	"00002982"	"90"	"925"	"0"	"925"	"0"	"c.925G>A"	"r.925g>a"	"p.Gly309Arg"	"13"
"0000175056"	"00002982"	"90"	"925"	"0"	"925"	"0"	"c.925G>A"	"r.925g>a"	"p.Gly309Arg"	"13"
"0000175057"	"00002982"	"90"	"1045"	"0"	"1057"	"0"	"c.1045_1057del"	"r.[979_1062del, 1045_1057del]"	"p.[del28, fs*]"	"14"
"0000175058"	"00002982"	"90"	"1045"	"0"	"1057"	"0"	"c.1045_1057del"	"r.979_1062del"	"p.(del28)"	"14"
"0000175059"	"00002982"	"90"	"1122"	"0"	"1122"	"0"	"c.1122dup"	"r.1122dup"	"p.(Tyr375LeufsTer99)"	"15"
"0000175060"	"00002982"	"90"	"1122"	"0"	"1122"	"0"	"c.1122dup"	"r.1122dup"	"p.(Tyr375LeufsTer99)"	"15"
"0000175061"	"00002982"	"90"	"1135"	"0"	"1135"	"0"	"c.1135C>T"	"r.1135c>u"	"p.Arg379Cys"	"15"
"0000175062"	"00002982"	"90"	"1135"	"0"	"1135"	"0"	"c.1135C>T"	"r.1135c>u"	"p.Arg379Cys"	"15"
"0000175063"	"00002982"	"90"	"1153"	"0"	"1153"	"0"	"c.1153C>T"	"r.1153c>u"	"p.Arg385Cys"	"16"
"0000175064"	"00002982"	"90"	"1153"	"0"	"1153"	"0"	"c.1153C>T"	"r.1153c>u"	"p.Arg385Cys"	"16"
"0000175065"	"00002982"	"90"	"1153"	"0"	"1153"	"0"	"c.1153C>T"	"r.1153c>u"	"p.Arg385Cys"	"16"
"0000175066"	"00002982"	"90"	"1153"	"0"	"1153"	"0"	"c.1153C>T"	"r.1153c>u"	"p.Arg385Cys"	"16"
"0000175067"	"00002982"	"90"	"1193"	"0"	"1193"	"0"	"c.1193C>A"	"r.1193c>a"	"p.Ala398Asp"	"16"
"0000175068"	"00002982"	"90"	"1193"	"0"	"1193"	"0"	"c.1193C>A"	"r.1193c>a"	"p.Ala398Asp"	"16"
"0000175069"	"00002982"	"90"	"1275"	"0"	"1275"	"0"	"c.1275C>T"	"r.1275c>u"	"p.="	"17"
"0000175070"	"00002982"	"90"	"1275"	"0"	"1275"	"0"	"c.1275C>T"	"r.1275c>u"	"p.="	"17"
"0000175071"	"00002982"	"90"	"1331"	"0"	"1331"	"0"	"c.1331C>T"	"r.1331c>u"	"p.Ala444Val"	"17"
"0000175072"	"00002982"	"90"	"1360"	"0"	"1360"	"0"	"c.1360C>T"	"r.1360c>u"	"p.Gln454*"	"17"
"0000175073"	"00002982"	"90"	"1360"	"0"	"1360"	"0"	"c.1360C>T"	"r.1360c>u"	"p.Gln454*"	"17"
"0000246615"	"00002982"	"10"	"718"	"14"	"718"	"14"	"c.718+14A>T"	"r.(=)"	"p.(=)"	""
"0000258374"	"00002982"	"10"	"1062"	"16"	"1062"	"16"	"c.1062+16C>G"	"r.(=)"	"p.(=)"	""
"0000258375"	"00002982"	"10"	"1164"	"0"	"1164"	"0"	"c.1164C>T"	"r.(?)"	"p.(His388=)"	""
"0000258376"	"00002982"	"90"	"35"	"0"	"35"	"0"	"c.35G>A"	"r.(?)"	"p.(Arg12Gln)"	""
"0000258377"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.spl?"	"p.?"	""
"0000258378"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Val178Met)"	""
"0000258379"	"00002982"	"10"	"602"	"13"	"602"	"13"	"c.602+13C>T"	"r.(=)"	"p.(=)"	""
"0000261123"	"00002982"	"90"	"35"	"0"	"35"	"0"	"c.35G>A"	"r.(?)"	"p.(Arg12Gln)"	""
"0000261124"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.spl?"	"p.?"	""
"0000342051"	"00002982"	"50"	"502"	"0"	"502"	"0"	"c.502C>T"	"r.(?)"	"p.(Arg168Cys)"	""
"0000532452"	"00002982"	"30"	"309"	"0"	"309"	"0"	"c.309G>A"	"r.(?)"	"p.(Thr103=)"	""
"0000532453"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.spl?"	"p.?"	""
"0000532454"	"00002982"	"90"	"447"	"-1"	"447"	"-1"	"c.447-1G>A"	"r.spl?"	"p.?"	""
"0000532455"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Val178Met)"	""
"0000532456"	"00002982"	"10"	"556"	"0"	"556"	"0"	"c.556C>A"	"r.(?)"	"p.(Arg186=)"	""
"0000532457"	"00002982"	"30"	"718"	"14"	"718"	"14"	"c.718+14A>T"	"r.(=)"	"p.(=)"	""
"0000532460"	"00002982"	"30"	"1164"	"0"	"1164"	"0"	"c.1164C>T"	"r.(?)"	"p.(His388=)"	""
"0000578170"	"00002982"	"90"	"346"	"0"	"346"	"0"	"c.346C>T"	"r.(?)"	"p.(Gln116*)"	""
"0000578171"	"00002982"	"90"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Glu241Lys)"	""
"0000611172"	"00002982"	"30"	"837"	"0"	"837"	"0"	"c.837G>C"	"r.(?)"	"p.(Thr279=)"	""
"0000652344"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Val178Met)"	""
"0000652345"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	""
"0000652346"	"00002982"	"50"	"1297"	"0"	"1297"	"0"	"c.1297A>C"	"r.(?)"	"p.(Ser433Arg)"	""
"0000653427"	"00002982"	"50"	"688"	"0"	"688"	"0"	"c.688A>G"	"r.(?)"	"p.(Met230Val)"	""
"0000655868"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.spl?"	"p.?"	""
"0000655869"	"00002982"	"70"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Val178Met)"	""
"0000678151"	"00002982"	"50"	"130"	"0"	"130"	"0"	"c.130G>A"	"r.(?)"	"p.(Ala44Thr)"	""
"0000721520"	"00002982"	"50"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146Trp)"	""
"0000803220"	"00002982"	"50"	"37"	"0"	"37"	"0"	"c.37T>C"	"r.(?)"	"p.(Phe13Leu)"	""
"0000977807"	"00002982"	"90"	"446"	"1"	"446"	"1"	"c.446+1G>A"	"r.spl?"	"p.?"	""
"0000985857"	"00002982"	"90"	"133"	"0"	"133"	"0"	"c.133T>A"	"r.(?)"	"p.(Tyr45Asn)"	""
"0000985858"	"00002982"	"90"	"623"	"0"	"623"	"0"	"c.623C>G"	"r.(?)"	"p.(Pro208Arg)"	""
"0000985859"	"00002982"	"90"	"623"	"0"	"623"	"0"	"c.623C>G"	"r.(?)"	"p.(Pro208Arg)"	""
"0000985860"	"00002982"	"90"	"338"	"0"	"338"	"0"	"c.338G>A"	"r.(?)"	"p.(Arg113Gln)"	""
"0000985861"	"00002982"	"90"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Val178Met)"	""
"0000985862"	"00002982"	"90"	"1143"	"1"	"1143"	"1"	"c.1143+1G>T"	"r.spl"	"p.?"	""
"0000985863"	"00002982"	"90"	"1135"	"0"	"1135"	"0"	"c.1135C>T"	"r.(?)"	"p.(Arg379Cys)"	""
"0000985921"	"00002982"	"90"	"1367"	"0"	"1367"	"0"	"c.1367G>A"	"r.(?)"	"p.(Arg456Gln)"	""
"0000985923"	"00002982"	"90"	"901"	"0"	"901"	"0"	"c.901G>A"	"r.(?)"	"p.(Gly301Arg)"	""
"0000985925"	"00002982"	"90"	"947"	"0"	"947"	"0"	"c.947G>A"	"r.(?)"	"p.(Gly316Glu)"	""
"0000986020"	"00002982"	"70"	"209"	"0"	"209"	"0"	"c.209T>C"	"r.(?)"	"p.(Val70Ala)"	"4"
"0000988623"	"00002982"	"70"	"331"	"0"	"331"	"0"	"c.331C>T"	"r.(?)"	"p.(Arg111Trp)"	""
"0000988677"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	""
"0000988678"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	""
"0000988679"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	""
"0000988680"	"00002982"	"90"	"857"	"0"	"857"	"0"	"c.857A>G"	"r.(?)"	"p.(Gln286Arg)"	""
"0000988683"	"00002982"	"90"	"328"	"0"	"328"	"0"	"c.328G>T"	"r.(?)"	"p.(Gly110Ter)"	""
"0000988684"	"00002982"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Arg146Trp)"	""
"0001007254"	"00002982"	"70"	"1143"	"1"	"1143"	"1"	"c.1143+1G>T"	"r.spl"	"p.?"	""
"0001007377"	"00002982"	"70"	"539"	"0"	"539"	"0"	"c.539T>G"	"r.(?)"	"p.(Leu180Arg)"	""
"0001036482"	"00002982"	"50"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151His)"	""
"0001046126"	"00002982"	"90"	"292"	"0"	"292"	"0"	"c.292del"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 123
"{{screeningid}}"	"{{variantid}}"
"0000081048"	"0000130134"
"0000108955"	"0000174992"
"0000108955"	"0000175049"
"0000108956"	"0000174994"
"0000108956"	"0000174995"
"0000108957"	"0000174996"
"0000108957"	"0000175007"
"0000108958"	"0000174997"
"0000108958"	"0000175067"
"0000108959"	"0000174998"
"0000108959"	"0000174999"
"0000108960"	"0000175000"
"0000108960"	"0000175068"
"0000108961"	"0000175001"
"0000108961"	"0000175002"
"0000108962"	"0000174987"
"0000108963"	"0000175003"
"0000108963"	"0000175018"
"0000108964"	"0000175004"
"0000108964"	"0000175029"
"0000108965"	"0000175005"
"0000108965"	"0000175006"
"0000108966"	"0000175008"
"0000108966"	"0000175009"
"0000108967"	"0000175010"
"0000108967"	"0000175011"
"0000108968"	"0000175012"
"0000108968"	"0000175013"
"0000108969"	"0000175014"
"0000108969"	"0000175054"
"0000108970"	"0000175015"
"0000108970"	"0000175039"
"0000108971"	"0000175016"
"0000108971"	"0000175032"
"0000108972"	"0000175017"
"0000108972"	"0000175040"
"0000108973"	"0000175019"
"0000108973"	"0000175033"
"0000108974"	"0000175020"
"0000108974"	"0000175021"
"0000108975"	"0000175022"
"0000108975"	"0000175034"
"0000108976"	"0000175023"
"0000108976"	"0000175031"
"0000108977"	"0000175024"
"0000108977"	"0000175025"
"0000108978"	"0000175026"
"0000108978"	"0000175045"
"0000108979"	"0000175027"
"0000108979"	"0000175035"
"0000108980"	"0000175028"
"0000108980"	"0000175038"
"0000108981"	"0000175030"
"0000108981"	"0000175071"
"0000108982"	"0000175036"
"0000108982"	"0000175037"
"0000108983"	"0000174988"
"0000108984"	"0000174976"
"0000108985"	"0000175041"
"0000108985"	"0000175046"
"0000108986"	"0000175042"
"0000108986"	"0000175057"
"0000108987"	"0000174977"
"0000108988"	"0000174978"
"0000108989"	"0000175043"
"0000108989"	"0000175044"
"0000108990"	"0000174979"
"0000108991"	"0000175047"
"0000108991"	"0000175048"
"0000108992"	"0000175050"
"0000108992"	"0000175051"
"0000108993"	"0000175052"
"0000108993"	"0000175058"
"0000108994"	"0000174989"
"0000108995"	"0000174980"
"0000108995"	"0000174981"
"0000108996"	"0000175055"
"0000108996"	"0000175056"
"0000108997"	"0000174982"
"0000108998"	"0000174983"
"0000108999"	"0000175059"
"0000108999"	"0000175060"
"0000109000"	"0000175061"
"0000109000"	"0000175062"
"0000109001"	"0000174990"
"0000109002"	"0000175063"
"0000109002"	"0000175064"
"0000109003"	"0000175065"
"0000109003"	"0000175066"
"0000109004"	"0000174991"
"0000109005"	"0000174984"
"0000109006"	"0000174985"
"0000109007"	"0000174986"
"0000109008"	"0000175069"
"0000109008"	"0000175070"
"0000109009"	"0000175072"
"0000109009"	"0000175073"
"0000249398"	"0000578170"
"0000249399"	"0000578171"
"0000295655"	"0000652344"
"0000295656"	"0000652345"
"0000295657"	"0000652346"
"0000296729"	"0000653427"
"0000451938"	"0000985857"
"0000451938"	"0000985925"
"0000451939"	"0000985858"
"0000451940"	"0000985859"
"0000451941"	"0000985860"
"0000451942"	"0000985861"
"0000451942"	"0000985923"
"0000451943"	"0000985862"
"0000451944"	"0000985863"
"0000451944"	"0000985921"
"0000452068"	"0000986020"
"0000453861"	"0000988623"
"0000453909"	"0000988677"
"0000453909"	"0000988683"
"0000453910"	"0000988678"
"0000453910"	"0000988684"
"0000453911"	"0000988679"
"0000453912"	"0000988680"
"0000455221"	"0001007254"
"0000455221"	"0001007377"