### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ARSB)
# 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}}"
"ARSB"	"arylsulfatase B"	"5"	"p11-q13"	"unknown"	"NG_007089.1"	"UD_132118223572"	""	"https://www.LOVD.nl/ARSB"	""	"1"	"714"	"411"	"611542"	"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/ARSB_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2017-12-01 12:32:24"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000093"	"ARSB"	"arylsulfatase B, transcript variant 1"	"001"	"NM_000046.3"	""	"NP_000037.2"	""	""	""	"-1286"	"4790"	"1602"	"78282357"	"78073032"	"00002"	"2012-05-11 13:12:04"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00114"	"GA1"	"glutaricaciduria, type 1 (GA-1)"	"AR"	"231670"	""	"autosomal recessive"	""	"00008"	"2013-03-06 12:48:45"	"00006"	"2021-12-10 21:51:32"
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01939"	"MPS6"	"mucopolysaccharidosis type VI (MPS-6)"	"AR"	"253200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""
"05580"	"MPS"	"mucopolysaccharidosis (MPS)"	""	""	""	""	""	"00006"	"2019-03-01 09:43:46"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ARSB"	"01939"


## Individuals ## Do not remove or alter this header ##
## Count = 34
"{{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}}"
"00000009"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000015"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000027"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000052"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000069"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000072"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000086"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000094"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	"Coriell sample"	""	""	""	""	"0"	""	""	""	""
"00000099"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00143196"	""	""	""	"1"	""	"02335"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00293911"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00331327"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"17DG0784"
"00331328"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"13DG1831"
"00414704"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01210"
"00414706"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA03575"
"00455320"	""	""	""	"1"	""	"00006"	"{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}"	""	""	""	"United States"	""	"0"	""	""	""	"ARSB-1"
"00455321"	""	""	""	"1"	""	"00006"	"{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}"	""	""	""	"United States"	""	"0"	""	""	""	"ARSB-2"
"00455322"	""	""	""	"1"	""	"00006"	"{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}"	""	""	""	"United States"	""	"0"	""	""	""	"ARSB-3"
"00455323"	""	""	""	"1"	""	"00006"	"{PMID:Pollard 2013:22976768}, {PMID:Pollard 2016:22976768}"	""	""	""	"United States"	""	"0"	""	""	""	"ARSB-4"
"00456238"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat16"
"00456292"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"M"	""	"Kuwait"	""	"0"	""	""	""	"MPS6_Pat1"
"00456293"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"F"	""	"Russia"	""	"0"	""	""	""	"MPS6_Pat2"
"00456294"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"F"	""	"Russia"	""	"0"	""	""	""	"MPS6_Pat3"
"00456295"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"M"	""	"Saudi Arabia"	""	"0"	""	""	""	"MPS6_Pat4"
"00456296"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"M"	""	"Saudi Arabia"	""	"0"	""	""	""	"MPS6_Pat5"
"00456297"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"M"	""	"Saudi Arabia"	""	"0"	""	""	""	"MPS6_Pat6"
"00456298"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"M"	""	"Syria"	""	"0"	""	""	""	"MPS6_Pat7"
"00456299"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	"MPS6_Pat8"
"00456300"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	"MPS6_Pat9"
"00456554"	""	""	""	"1"	""	"00006"	"{PMID:Fang 2022:34813777}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat44"
"00456555"	""	""	""	"1"	""	"00006"	"{PMID:Fang 2022:34813777}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat45"
"00456556"	""	""	""	"1"	""	"00006"	"{PMID:Fang 2022:34813777}"	""	"M"	""	"China"	""	"0"	""	""	""	"Pat46"
"00456557"	""	""	""	"1"	""	"00006"	"{PMID:Fang 2022:34813777}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat47"
"00456558"	""	""	""	"1"	""	"00006"	"{PMID:Fang 2022:34813777}"	""	"F"	""	"China"	""	"0"	""	""	""	"Pat48"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 28
"{{individualid}}"	"{{diseaseid}}"
"00000015"	"00138"
"00000015"	"05378"
"00000094"	"00114"
"00143196"	"01939"
"00293911"	"00198"
"00331327"	"05517"
"00331328"	"05517"
"00414704"	"04214"
"00414706"	"04214"
"00455320"	"05580"
"00455321"	"05580"
"00455322"	"05580"
"00455323"	"05580"
"00456238"	"00198"
"00456292"	"00198"
"00456293"	"00198"
"00456294"	"00198"
"00456295"	"00198"
"00456296"	"00198"
"00456297"	"00198"
"00456298"	"00198"
"00456299"	"00198"
"00456300"	"00198"
"00456554"	"05580"
"00456555"	"05580"
"00456556"	"05580"
"00456557"	"05580"
"00456558"	"05580"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00114, 00138, 00198, 01939, 04214, 05378, 05517, 05580
## Count = 24
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Biochem_param}}"	"{{Phenotype/enzyme_act}}"	"{{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}}"
"0000115947"	"01939"	"00143196"	"02335"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000249519"	"05517"	"00331327"	"00000"	"Familial, autosomal recessive"	""	"Short stature"	""	""	""	""	""	""	""	""	""	""	"Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)"	"skeletal dysplasia"	""
"0000249520"	"05517"	"00331328"	"00000"	"Familial, autosomal recessive"	""	"Dandy-Walker malformation, Hydrocephalus, Kyphosis, Strabismus, Hypermetropia, AbnoYes"	""	""	""	""	""	""	""	""	""	""	"Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)"	"skeletal dysplasia"	""
"0000306499"	"04214"	"00414704"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"galactosemia"	""	""
"0000306501"	"04214"	"00414706"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"Tay-Sachs disease"	""	""
"0000343900"	"05580"	"00455320"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000343901"	"05580"	"00455321"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000343902"	"05580"	"00455322"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000343903"	"05580"	"00455323"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000344757"	"00198"	"00456238"	"00006"	"Familial, autosomal recessive"	""	"see paper; ... (detailed)"	""	""	"9m"	""	""	""	""	""	""	""	"MPS6"	"lysosomal storage disorder"	""
"0000344811"	"00198"	"00456292"	"00006"	"Familial, autosomal recessive"	"1y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344812"	"00198"	"00456293"	"00006"	"Familial, autosomal recessive"	"8y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344813"	"00198"	"00456294"	"00006"	"Familial, autosomal recessive"	"2y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344814"	"00198"	"00456295"	"00006"	"Familial, autosomal recessive"	"1y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344815"	"00198"	"00456296"	"00006"	"Familial, autosomal recessive"	"1y6m"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344816"	"00198"	"00456297"	"00006"	"Familial, autosomal recessive"	"3y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344817"	"00198"	"00456298"	"00006"	"Familial, autosomal recessive"	"4y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344818"	"00198"	"00456299"	"00006"	"Familial, autosomal recessive"	"1y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344819"	"00198"	"00456300"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis/mucolipidosis"	""
"0000345062"	"05580"	"00456554"	"00006"	"Familial, X-linked recessive"	""	"severe"	""	""	"3y"	"3y"	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000345063"	"05580"	"00456555"	"00006"	"Familial, X-linked recessive"	""	"severe"	""	""	"1y"	"4y"	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000345064"	"05580"	"00456556"	"00006"	"Familial, X-linked recessive"	""	"severe"	""	""	"2y"	"2y"	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000345065"	"05580"	"00456557"	"00006"	"Familial, X-linked recessive"	""	"attenuated"	""	""	"4y"	"6y"	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""
"0000345066"	"05580"	"00456558"	"00006"	"Familial, X-linked recessive"	""	"severe"	""	""	"3y"	"4y"	""	""	""	""	""	""	"MPS6"	"mucopolysaccharidosis"	""


## Screenings ## Do not remove or alter this header ##
## Count = 34
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000009"	"00000009"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000015"	"00000015"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000027"	"00000027"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000052"	"00000052"	"1"	"00004"	""	"2012-05-11 13:18:50"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000069"	"00000069"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000072"	"00000072"	"1"	"00004"	""	"2012-05-11 13:18:59"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000086"	"00000086"	"1"	"00004"	""	"2012-05-11 13:19:14"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000094"	"00000094"	"1"	"00004"	""	"2012-05-11 13:19:21"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000099"	"00000099"	"1"	"00004"	""	"2012-05-11 13:19:38"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000144053"	"00143196"	"1"	"02335"	"02335"	"2017-11-30 11:32:18"	""	""	"SEQ"	"DNA"	"blood"	""
"0000295079"	"00293911"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000332546"	"00331327"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332547"	"00331328"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000415985"	"00414704"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000415987"	"00414706"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000456934"	"00455320"	"1"	"00006"	"00006"	"2024-10-07 09:56:02"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000456935"	"00455321"	"1"	"00006"	"00006"	"2024-10-07 09:56:02"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000456936"	"00455322"	"1"	"00006"	"00006"	"2024-10-07 09:56:02"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000456937"	"00455323"	"1"	"00006"	"00006"	"2024-10-07 09:56:02"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000457855"	"00456238"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000457909"	"00456292"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457910"	"00456293"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457911"	"00456294"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457912"	"00456295"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457913"	"00456296"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457914"	"00456297"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457915"	"00456298"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457916"	"00456299"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457917"	"00456300"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000458171"	"00456554"	"1"	"00006"	"00006"	"2024-10-28 14:01:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000458172"	"00456555"	"1"	"00006"	"00006"	"2024-10-28 14:01:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000458173"	"00456556"	"1"	"00006"	"00006"	"2024-10-28 14:01:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000458174"	"00456557"	"1"	"00006"	"00006"	"2024-10-28 14:01:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000458175"	"00456558"	"1"	"00006"	"00006"	"2024-10-28 14:01:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 133
"{{screeningid}}"	"{{geneid}}"
"0000000009"	"ACADM"
"0000000009"	"ARSB"
"0000000009"	"ATP7B"
"0000000009"	"CFTR"
"0000000009"	"CLN3"
"0000000009"	"ETFB"
"0000000009"	"GAN"
"0000000009"	"GLB1"
"0000000009"	"HEXB"
"0000000009"	"IGHMBP2"
"0000000009"	"MEFV"
"0000000009"	"NHLRC1"
"0000000009"	"NPHS1"
"0000000009"	"NTRK1"
"0000000009"	"PMP22"
"0000000009"	"SERPINA1"
"0000000009"	"WNT10A"
"0000000015"	"ALG6"
"0000000015"	"ARSB"
"0000000015"	"ATP7B"
"0000000015"	"BMPR2"
"0000000015"	"DPYD"
"0000000015"	"ETFB"
"0000000015"	"GALC"
"0000000015"	"GLB1"
"0000000015"	"NHLRC1"
"0000000015"	"NPHS1"
"0000000015"	"SERPINA1"
"0000000015"	"TGM1"
"0000000027"	"AMPD1"
"0000000027"	"ARSB"
"0000000027"	"ATP7B"
"0000000027"	"CBS"
"0000000027"	"CFTR"
"0000000027"	"DPYD"
"0000000027"	"ETFB"
"0000000027"	"HEXB"
"0000000027"	"MYO5A"
"0000000027"	"NHLRC1"
"0000000027"	"NPC1"
"0000000027"	"NPHS1"
"0000000027"	"SLC26A2"
"0000000052"	"ARSB"
"0000000052"	"DPYD"
"0000000052"	"ERCC4"
"0000000052"	"ETFB"
"0000000052"	"NPHS1"
"0000000069"	"AHI1"
"0000000069"	"ARSB"
"0000000069"	"ATP7B"
"0000000069"	"CYP27A1"
"0000000069"	"ETFB"
"0000000069"	"GLB1"
"0000000069"	"HEXA"
"0000000069"	"HEXB"
"0000000069"	"LAMA2"
"0000000069"	"MTHFR"
"0000000069"	"MYO5A"
"0000000069"	"NHLRC1"
"0000000069"	"NPHS1"
"0000000069"	"PMM2"
"0000000069"	"SBDS"
"0000000072"	"ARSB"
"0000000072"	"ATP7B"
"0000000072"	"CYP21A2"
"0000000072"	"ETFB"
"0000000072"	"GLB1"
"0000000072"	"IGHMBP2"
"0000000072"	"MTHFR"
"0000000072"	"NHLRC1"
"0000000072"	"NPHS1"
"0000000072"	"PMM2"
"0000000072"	"PPT1"
"0000000072"	"SERPINA1"
"0000000072"	"SMPD1"
"0000000086"	"ARSB"
"0000000086"	"ATP7B"
"0000000086"	"BTD"
"0000000086"	"ETFB"
"0000000086"	"GLB1"
"0000000086"	"HEXB"
"0000000086"	"HPRT1"
"0000000086"	"IGHMBP2"
"0000000086"	"NHLRC1"
"0000000086"	"POLG"
"0000000086"	"SERPINA1"
"0000000086"	"SLC26A2"
"0000000094"	"AHI1"
"0000000094"	"ARSB"
"0000000094"	"ATP7B"
"0000000094"	"BTD"
"0000000094"	"ENPP1"
"0000000094"	"ETFB"
"0000000094"	"GCDH"
"0000000094"	"GLB1"
"0000000094"	"INVS"
"0000000094"	"MYO5A"
"0000000094"	"NPHS1"
"0000000094"	"SERPINA1"
"0000000094"	"SMPD1"
"0000000099"	"ARSB"
"0000000099"	"ATP7B"
"0000000099"	"ETFB"
"0000000099"	"HESX1"
"0000000099"	"HGSNAT"
"0000000099"	"LAMA2"
"0000000099"	"NHLRC1"
"0000000099"	"SERPINA1"
"0000000099"	"SLC26A2"
"0000000099"	"TMEM216"
"0000144053"	"ARSB"
"0000332546"	"ARSB"
"0000332547"	"ARSB"
"0000415985"	"GALT"
"0000415987"	"HEXA"
"0000456934"	"ARSB"
"0000456935"	"ARSB"
"0000456936"	"ARSB"
"0000456937"	"ARSB"
"0000457909"	"ARSB"
"0000457910"	"ARSB"
"0000457911"	"ARSB"
"0000457912"	"ARSB"
"0000457913"	"ARSB"
"0000457914"	"ARSB"
"0000457915"	"ARSB"
"0000457916"	"ARSB"
"0000457917"	"ARSB"
"0000458171"	"ARSB"
"0000458172"	"ARSB"
"0000458173"	"ARSB"
"0000458174"	"ARSB"
"0000458175"	"ARSB"


## 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 = 99
"{{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}}"
"0000001013"	"0"	"50"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00002"	"ARSB_000001"	"g.78135241C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78839418C>T"	""	"VUS"	""
"0000001014"	"0"	"50"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00002"	"ARSB_000001"	"g.78135241C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78839418C>T"	""	"VUS"	""
"0000001015"	"0"	"50"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00002"	"ARSB_000001"	"g.78135241C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78839418C>T"	""	"VUS"	""
"0000001016"	"0"	"50"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00002"	"ARSB_000001"	"g.78135241C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78839418C>T"	""	"VUS"	""
"0000001017"	"0"	"50"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00002"	"ARSB_000001"	"g.78135241C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78839418C>T"	""	"VUS"	""
"0000001018"	"0"	"50"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00002"	"ARSB_000001"	"g.78135241C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78839418C>T"	""	"VUS"	""
"0000001019"	"0"	"50"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00002"	"ARSB_000001"	"g.78135241C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78839418C>T"	""	"VUS"	""
"0000001020"	"0"	"50"	"5"	"78265011"	"78265011"	"subst"	"0.000650047"	"00002"	"ARSB_000002"	"g.78265011C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78969188C>T"	""	"VUS"	""
"0000001021"	"0"	"50"	"5"	"78280974"	"78280974"	"subst"	"0.0105839"	"00002"	"ARSB_000003"	"g.78280974G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78985151G>A"	""	"VUS"	""
"0000234490"	"0"	"70"	"5"	"78280761"	"78280761"	"subst"	"0"	"02335"	"ARSB_000004"	"g.78280761T>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.78984938T>G"	""	"likely pathogenic"	""
"0000234491"	"0"	"90"	"5"	"78264979"	"78264979"	"subst"	"8.12466E-6"	"02335"	"ARSB_000005"	"g.78264979A>G"	""	""	""	""	"HGMD accession CM920107"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.78969156A>G"	""	"pathogenic"	""
"0000249693"	"0"	"90"	"5"	"78135257"	"78135257"	"subst"	"4.06435E-6"	"02325"	"ARSB_000008"	"g.78135257A>C"	""	""	""	"ARSB(NM_000046.5):c.1143-8T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78839434A>C"	""	"pathogenic"	""
"0000253793"	"0"	"10"	"5"	"78251347"	"78251347"	"subst"	"0.168099"	"01943"	"ARSB_000020"	"g.78251347A>G"	""	""	""	"ARSB(NM_000046.4):c.691-22T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78955524A>G"	""	"benign"	""
"0000253794"	"0"	"10"	"5"	"78265041"	"78265041"	"subst"	"0.323107"	"01943"	"ARSB_000021"	"g.78265041A>G"	""	""	""	"ARSB(NM_000046.4):c.313-26T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78969218A>G"	""	"benign"	""
"0000255460"	"0"	"90"	"5"	"78260270"	"78260270"	"del"	"0"	"01943"	"ARSB_000017"	"g.78260270del"	""	""	""	"ARSB(NM_000046.4):c.659delT (p.I220Kfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78964447del"	""	"pathogenic"	""
"0000255526"	"0"	"90"	"5"	"78181587"	"78181587"	"subst"	"0"	"01943"	"ARSB_000013"	"g.78181587A>G"	""	""	""	"ARSB(NM_000046.4):c.962T>C (p.L321P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78885764A>G"	""	"pathogenic"	""
"0000255680"	"0"	"90"	"5"	"78181405"	"78181405"	"subst"	"8.1632E-6"	"01943"	"ARSB_000010"	"g.78181405A>G"	""	""	""	"ARSB(NM_000046.4):c.1142+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78885582A>G"	""	"pathogenic"	""
"0000259145"	"0"	"10"	"5"	"78181477"	"78181477"	"subst"	"0.399698"	"02325"	"ARSB_000011"	"g.78181477C>T"	""	""	""	"ARSB(NM_000046.4):c.1072G>A (p.V358M), ARSB(NM_000046.5):c.1072G>A (p.V358M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78885654C>T"	""	"benign"	""
"0000259766"	"0"	"90"	"5"	"78135250"	"78135250"	"subst"	"0"	"02325"	"ARSB_000007"	"g.78135250C>G"	""	""	""	"ARSB(NM_000046.5):c.1143-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78839427C>G"	""	"pathogenic"	""
"0000259767"	"0"	"90"	"5"	"78260300"	"78260300"	"subst"	"0.000272302"	"02325"	"ARSB_000018"	"g.78260300T>C"	""	""	""	"ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78964477T>C"	""	"pathogenic"	""
"0000262987"	"0"	"10"	"5"	"78181477"	"78181477"	"subst"	"0.399698"	"01943"	"ARSB_000011"	"g.78181477C>T"	""	""	""	"ARSB(NM_000046.4):c.1072G>A (p.V358M), ARSB(NM_000046.5):c.1072G>A (p.V358M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78885654C>T"	""	"benign"	""
"0000262988"	"0"	"10"	"5"	"78135276"	"78135276"	"subst"	"0.410911"	"01943"	"ARSB_000009"	"g.78135276T>G"	""	""	""	"ARSB(NM_000046.4):c.1143-27A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78839453T>G"	""	"benign"	""
"0000262989"	"0"	"10"	"5"	"78135201"	"78135201"	"subst"	"0.190042"	"01943"	"ARSB_000006"	"g.78135201C>T"	""	""	""	"ARSB(NM_000046.4):c.1191G>A (p.P397=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78839378C>T"	""	"benign"	""
"0000262990"	"0"	"90"	"5"	"78264874"	"78264874"	"subst"	"8.12176E-6"	"01943"	"ARSB_000019"	"g.78264874G>A"	""	""	""	"ARSB(NM_000046.4):c.454C>T (p.R152W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78969051G>A"	""	"pathogenic"	""
"0000262991"	"0"	"90"	"5"	"78260300"	"78260300"	"subst"	"0.000272302"	"01943"	"ARSB_000018"	"g.78260300T>C"	""	""	""	"ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78964477T>C"	""	"pathogenic"	""
"0000262992"	"0"	"90"	"5"	"78251306"	"78251306"	"subst"	"0"	"01943"	"ARSB_000016"	"g.78251306G>T"	""	""	""	"ARSB(NM_000046.4):c.710C>A (p.A237D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78955483G>T"	""	"pathogenic"	""
"0000262993"	"0"	"90"	"5"	"78181612"	"78181612"	"subst"	"4.06299E-6"	"01943"	"ARSB_000014"	"g.78181612G>C"	""	""	""	"ARSB(NM_000046.4):c.937C>G (p.P313A), ARSB(NM_000046.5):c.937C>G (p.(Pro313Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78885789G>C"	""	"pathogenic"	""
"0000262994"	"0"	"90"	"5"	"78181612"	"78181612"	"subst"	"0"	"01943"	"ARSB_000015"	"g.78181612G>A"	""	""	""	"ARSB(NM_000046.4):c.937C>T (p.P313S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78885789G>A"	""	"pathogenic"	""
"0000262995"	"0"	"90"	"5"	"78181570"	"78181570"	"subst"	"1.21919E-5"	"01943"	"ARSB_000012"	"g.78181570G>A"	""	""	""	"ARSB(NM_000046.4):c.979C>T (p.R327*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78885747G>A"	""	"pathogenic"	""
"0000526075"	"0"	"10"	"5"	"78076460"	"78076460"	"subst"	"0.0120883"	"01943"	"ARSB_000022"	"g.78076460C>T"	""	""	""	"ARSB(NM_000046.4):c.1362G>A (p.P454=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78780637C>T"	""	"benign"	""
"0000526076"	"0"	"10"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"01943"	"ARSB_000001"	"g.78135241C>T"	""	""	""	"ARSB(NM_000046.4):c.1151G>A (p.S384N), ARSB(NM_000046.5):c.1151G>A (p.S384N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78839418C>T"	""	"benign"	""
"0000526077"	"0"	"10"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"02325"	"ARSB_000001"	"g.78135241C>T"	""	""	""	"ARSB(NM_000046.4):c.1151G>A (p.S384N), ARSB(NM_000046.5):c.1151G>A (p.S384N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78839418C>T"	""	"benign"	""
"0000526078"	"0"	"10"	"5"	"78181423"	"78181423"	"subst"	"0.152584"	"01943"	"ARSB_000023"	"g.78181423C>T"	""	""	""	"ARSB(NM_000046.4):c.1126G>A (p.V376M), ARSB(NM_000046.5):c.1126G>A (p.V376M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78885600C>T"	""	"benign"	""
"0000526079"	"0"	"10"	"5"	"78181423"	"78181423"	"subst"	"0.152584"	"02325"	"ARSB_000023"	"g.78181423C>T"	""	""	""	"ARSB(NM_000046.4):c.1126G>A (p.V376M), ARSB(NM_000046.5):c.1126G>A (p.V376M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78885600C>T"	""	"benign"	""
"0000526080"	"0"	"50"	"5"	"78181626"	"78181626"	"subst"	"0"	"02327"	"ARSB_000024"	"g.78181626C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78885803C>T"	""	"VUS"	""
"0000526081"	"0"	"50"	"5"	"78280872"	"78280872"	"subst"	"0"	"01804"	"ARSB_000025"	"g.78280872A>T"	""	""	""	"ARSB(NM_000046.3):c.200T>A (p.(Ile67Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78985049A>T"	""	"VUS"	""
"0000526082"	"0"	"30"	"5"	"78280953"	"78280961"	"del"	"0"	"01804"	"ARSB_000026"	"g.78280953_78280961del"	""	""	""	"ARSB(NM_000046.3):c.113_121del (p.(Gly38_Gly40del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78985130_78985138del"	""	"likely benign"	""
"0000609798"	"0"	"50"	"5"	"78076372"	"78076372"	"subst"	"5.27945E-5"	"01804"	"ARSB_000027"	"g.78076372T>C"	""	""	""	"ARSB(NM_000046.3):c.1450A>G (p.(Arg484Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78780549T>C"	""	"VUS"	""
"0000609799"	"0"	"50"	"5"	"78111910"	"78111910"	"subst"	"0"	"01804"	"ARSB_000028"	"g.78111910T>C"	""	""	""	"ARSB(NM_198709.2):c.1241A>G (p.(Ter414TrpextTer7))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78816087T>C"	""	"VUS"	""
"0000609800"	"0"	"30"	"5"	"78251266"	"78251266"	"subst"	"0.000154382"	"01943"	"ARSB_000029"	"g.78251266T>C"	""	""	""	"ARSB(NM_000046.4):c.750A>G (p.E250=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78955443T>C"	""	"likely benign"	""
"0000609801"	"0"	"30"	"5"	"78280996"	"78280996"	"subst"	"0"	"01943"	"ARSB_000030"	"g.78280996G>A"	""	""	""	"ARSB(NM_000046.4):c.76C>T (p.L26=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78985173G>A"	""	"likely benign"	""
"0000651768"	"1"	"70"	"5"	"78280788"	"78280788"	"subst"	"6.78435E-6"	"03575"	"ARSB_000031"	"g.78280788C>T"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs118203942}"	"Germline"	""	"rs118203942"	"0"	""	""	"g.78984965C>T"	""	"likely pathogenic"	""
"0000720500"	"0"	"90"	"5"	"78260300"	"78260300"	"subst"	"0.000272302"	"02327"	"ARSB_000018"	"g.78260300T>C"	""	""	""	"ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000720501"	"0"	"50"	"5"	"78280934"	"78280934"	"subst"	"0"	"02327"	"ARSB_000034"	"g.78280934G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720502"	"0"	"30"	"5"	"78280974"	"78280974"	"subst"	"0.0105839"	"01804"	"ARSB_000003"	"g.78280974G>A"	""	""	""	"ARSB(NM_000046.3):c.98C>T (p.(Ala33Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000729828"	"3"	"90"	"5"	"78181470"	"78181470"	"subst"	"0"	"00000"	"ARSB_000032"	"g.78181470A>G"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_000046.3:c.1079T>C:p.(Leu360Pro)"	""	"Germline"	""	""	"0"	""	""	"g.78885647A>G"	""	"pathogenic (recessive)"	""
"0000729829"	"3"	"90"	"5"	"78251263"	"78251263"	"subst"	"0"	"00000"	"ARSB_000033"	"g.78251263G>C"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_000046.3:c.753C>G:p.(Tyr251*)"	""	"Germline"	""	""	"0"	""	""	"g.78955440G>C"	""	"pathogenic (recessive)"	""
"0000860002"	"0"	"30"	"5"	"78076160"	"78076160"	"subst"	"0"	"01804"	"ARSB_000035"	"g.78076160C>T"	""	""	""	"ARSB(NM_000046.3):c.*60G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000860003"	"0"	"50"	"5"	"78181560"	"78181560"	"subst"	"0"	"01804"	"ARSB_000036"	"g.78181560C>A"	""	""	""	"ARSB(NM_000046.3):c.989G>T (p.(Gly330Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000860004"	"0"	"90"	"5"	"78181587"	"78181587"	"subst"	"0"	"02327"	"ARSB_000013"	"g.78181587A>G"	""	""	""	"ARSB(NM_000046.4):c.962T>C (p.L321P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000860005"	"0"	"30"	"5"	"78260271"	"78260271"	"subst"	"0.00011381"	"01804"	"ARSB_000037"	"g.78260271T>C"	""	""	""	"ARSB(NM_000046.3):c.658A>G (p.(Ile220Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000860006"	"0"	"90"	"5"	"78264906"	"78264906"	"subst"	"0"	"02327"	"ARSB_000038"	"g.78264906T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000873899"	"0"	"10"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00000"	"ARSB_000001"	"g.78135241C>T"	""	"{PMID:Bell 2011:21228398}"	""	"ARSB 5:78170997 (hg18) het CM003999 9.6%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.78839418C>T"	""	"benign"	""
"0000873925"	"0"	"10"	"5"	"78135241"	"78135241"	"subst"	"0.0428171"	"00000"	"ARSB_000001"	"g.78135241C>T"	""	"{PMID:Bell 2011:21228398}"	""	"ARSB 5:78170997 (hg18) het CM003999 9.6%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.78839418C>T"	""	"benign"	""
"0000886911"	"0"	"30"	"5"	"78280875"	"78280875"	"subst"	"0"	"01804"	"ARSB_000039"	"g.78280875C>T"	""	""	""	"ARSB(NM_000046.3):c.197G>A (p.(Arg66His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912363"	"0"	"50"	"5"	"78280923"	"78280923"	"subst"	"0"	"01804"	"ARSB_000040"	"g.78280923A>C"	""	""	""	"ARSB(NM_000046.3):c.149T>G (p.(Leu50Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000933340"	"0"	"50"	"5"	"78181410"	"78181412"	"del"	"0"	"03779"	"ARSB_000041"	"g.78181410_78181412del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000963685"	"0"	"70"	"5"	"78265012"	"78265012"	"subst"	"8.12612E-6"	"02327"	"ARSB_000042"	"g.78265012G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000976853"	"0"	"50"	"5"	"78076369"	"78076369"	"subst"	"8.12209E-6"	"01804"	"ARSB_000043"	"g.78076369G>C"	""	""	""	"ARSB(NM_000046.5):c.1453C>G (p.(His485Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976854"	"0"	"90"	"5"	"78181612"	"78181612"	"subst"	"4.06299E-6"	"01804"	"ARSB_000014"	"g.78181612G>C"	""	""	""	"ARSB(NM_000046.4):c.937C>G (p.P313A), ARSB(NM_000046.5):c.937C>G (p.(Pro313Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000976855"	"0"	"50"	"5"	"78181635"	"78181635"	"subst"	"0.000154469"	"01804"	"ARSB_000044"	"g.78181635G>A"	""	""	""	"ARSB(NM_000046.3):c.914C>T (p.(Thr305Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976856"	"0"	"70"	"5"	"78264986"	"78264986"	"del"	"0"	"01804"	"ARSB_000045"	"g.78264986del"	""	""	""	"ARSB(NM_000046.5):c.342del (p.(Trp115Glyfs*19))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000995173"	"0"	"30"	"5"	"78135254"	"78135254"	"subst"	"8.12856E-6"	"01804"	"ARSB_000046"	"g.78135254A>G"	""	""	""	"ARSB(NM_000046.3):c.1143-5T>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001011319"	"3"	"70"	"5"	"78280812"	"78280812"	"subst"	"0"	"00006"	"ARSB_000052"	"g.78280812G>C"	""	"{PMID:Pollard 2016:22976768}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78984989G>C"	""	"likely pathogenic (recessive)"	""
"0001011320"	"2"	"90"	"5"	"78280797"	"78280797"	"subst"	"0"	"00006"	"ARSB_000051"	"g.78280797G>A"	""	"{PMID:Pollard 2016:22976768}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78984974G>A"	""	"pathogenic (recessive)"	""
"0001011321"	"3"	"70"	"5"	"78181497"	"78181497"	"subst"	"4.06587E-6"	"00006"	"ARSB_000049"	"g.78181497G>A"	""	"{PMID:Pollard 2016:22976768}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78885674G>A"	""	"likely pathogenic (recessive)"	""
"0001011322"	"1"	"70"	"5"	"78076373"	"78076373"	"subst"	"8.12229E-6"	"00006"	"ARSB_000047"	"g.78076373T>A"	""	"{PMID:Pollard 2016:22976768}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78780550T>A"	""	"likely pathogenic (recessive)"	""
"0001011360"	"1"	"70"	"5"	"78280760"	"78280760"	"subst"	"0"	"00006"	"ARSB_000050"	"g.78280760C>G"	""	"{PMID:Pollard 2016:22976768}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78984937C>G"	""	"likely pathogenic (recessive)"	""
"0001011361"	"2"	"70"	"5"	"78135197"	"78135197"	"subst"	"4.06322E-6"	"00006"	"ARSB_000048"	"g.78135197A>G"	""	"{PMID:Pollard 2016:22976768}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78839374A>G"	""	"likely pathogenic (recessive)"	""
"0001012402"	"3"	"90"	"5"	"78264944"	"78264946"	"del"	"0"	"00006"	"ARSB_000055"	"g.78264944_78264946del"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"382_384delCTC"	""	"Germline"	""	""	"0"	""	""	"g.78969121_78969123del"	""	"pathogenic (recessive)"	""
"0001012474"	"3"	"90"	"5"	"78251263"	"78251263"	"subst"	"0"	"00006"	"ARSB_000033"	"g.78251263G>C"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78955440G>C"	""	"pathogenic (recessive)"	""
"0001012475"	"1"	"90"	"5"	"78280797"	"78280797"	"subst"	"0"	"00006"	"ARSB_000057"	"g.78280797G>T"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78984974G>T"	""	"pathogenic (recessive)"	""
"0001012476"	"3"	"90"	"5"	"78251326"	"78251326"	"subst"	"4.06537E-6"	"00006"	"ARSB_000054"	"g.78251326C>T"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78955503C>T"	""	"pathogenic (recessive)"	""
"0001012477"	"3"	"90"	"5"	"78251263"	"78251263"	"subst"	"0"	"00006"	"ARSB_000033"	"g.78251263G>C"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78955440G>C"	""	"pathogenic (recessive)"	""
"0001012478"	"3"	"90"	"5"	"78251263"	"78251263"	"subst"	"0"	"00006"	"ARSB_000033"	"g.78251263G>C"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78955440G>C"	""	"pathogenic (recessive)"	""
"0001012479"	"3"	"90"	"5"	"78280905"	"78280905"	"subst"	"0"	"00006"	"ARSB_000058"	"g.78280905C>T"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78985082C>T"	""	"pathogenic (recessive)"	""
"0001012480"	"1"	"90"	"5"	"78251263"	"78251263"	"subst"	"0"	"00006"	"ARSB_000033"	"g.78251263G>C"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78955440G>C"	""	"pathogenic (recessive)"	""
"0001012481"	"3"	"90"	"5"	"78181587"	"78181587"	"subst"	"0"	"00006"	"ARSB_000013"	"g.78181587A>G"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78885764A>G"	""	"pathogenic (recessive)"	""
"0001012482"	"3"	"90"	"5"	"78181422"	"78181422"	"subst"	"0"	"00006"	"ARSB_000053"	"g.78181422A>T"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78885599A>T"	""	"pathogenic (recessive)"	""
"0001012490"	"2"	"90"	"5"	"78280779"	"78280779"	"subst"	"0"	"00006"	"ARSB_000056"	"g.78280779A>G"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78984956A>G"	""	"pathogenic (recessive)"	""
"0001012491"	"2"	"90"	"5"	"78181626"	"78181626"	"subst"	"0"	"00006"	"ARSB_000024"	"g.78181626C>T"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78885803C>T"	""	"pathogenic (recessive)"	""
"0001012780"	"1"	"90"	"5"	"78264850"	"78264850"	"subst"	"8.12196E-6"	"00006"	"ARSB_000067"	"g.78264850G>A"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78969027G>A"	""	"pathogenic (recessive)"	""
"0001012781"	"1"	"90"	"5"	"78264849"	"78264849"	"subst"	"4.06088E-6"	"00006"	"ARSB_000066"	"g.78264849C>T"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78969026C>T"	""	"pathogenic (recessive)"	""
"0001012782"	"1"	"90"	"5"	"78260397"	"78260397"	"subst"	"0"	"00006"	"ARSB_000065"	"g.78260397G>A"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78964574G>A"	""	"pathogenic (recessive)"	""
"0001012783"	"1"	"90"	"5"	"78181645"	"78181645"	"subst"	"1.62693E-5"	"00006"	"ARSB_000062"	"g.78181645C>G"	""	"{PMID:Fang 2022:34813777}"	""	"904C>G (Glu302Arg)"	""	"Germline"	""	""	"0"	""	""	"g.78885822C>G"	""	"pathogenic (recessive)"	""
"0001012784"	"1"	"90"	"5"	"78280758"	"78280758"	"subst"	"0"	"00006"	"ARSB_000068"	"g.78280758A>C"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78984935A>C"	""	"pathogenic (recessive)"	""
"0001012800"	"2"	"90"	"5"	"78135195"	"78135195"	"subst"	"1.219E-5"	"00006"	"ARSB_000059"	"g.78135195G>C"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78839372G>C"	""	"pathogenic (recessive)"	""
"0001012801"	"2"	"90"	"5"	"78260238"	"78265016"	"del"	"0"	"00006"	"ARSB_000064"	"g.(78251326_78260238)_(78265016_78280759)del"	""	"{PMID:Fang 2022:34813777}"	""	"del ex2-3"	""	"Germline"	""	""	"0"	""	""	"g.(78955503_78964415)_(78969193_78984936)del"	""	"pathogenic (recessive)"	""
"0001012802"	"2"	"50"	"5"	"78181477"	"78181477"	"subst"	"0"	"00006"	"ARSB_000060"	"g.78181477C>A"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78885654C>A"	""	"VUS"	""
"0001012803"	"2"	"90"	"5"	"78181570"	"78181570"	"subst"	"1.21919E-5"	"00006"	"ARSB_000012"	"g.78181570G>A"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78885747G>A"	""	"pathogenic (recessive)"	""
"0001012804"	"2"	"90"	"5"	"78181589"	"78181589"	"subst"	"0"	"00006"	"ARSB_000061"	"g.78181589G>C"	""	"{PMID:Fang 2022:34813777}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78885766G>C"	""	"pathogenic (recessive)"	""
"0001012805"	"2"	"90"	"5"	"78251117"	"78251326"	"del"	"0"	"00006"	"ARSB_000063"	"g.(78181651_78251117)_(78251326_78260238)del"	""	"{PMID:Fang 2022:34813777}"	""	"del ex4"	""	"Germline"	""	""	"0"	""	""	"g.(78885828_78955294)_(78955503_78964415)del"	""	"pathogenic (recessive)"	""
"0001035318"	"0"	"50"	"5"	"78135221"	"78135226"	"dup"	"0"	"01804"	"ARSB_000069"	"g.78135221_78135226dup"	""	""	""	"ARSB(NM_000046.5):c.1167_1172dup (p.(Glu390_Leu391dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035319"	"0"	"50"	"5"	"78181468"	"78181468"	"subst"	"7.7237E-5"	"01804"	"ARSB_000070"	"g.78181468C>A"	""	""	""	"ARSB(NM_000046.5):c.1081G>T (p.(Ala361Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035320"	"0"	"90"	"5"	"78260300"	"78260300"	"subst"	"0.000272302"	"01804"	"ARSB_000018"	"g.78260300T>C"	""	""	""	"ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001035321"	"0"	"30"	"5"	"78280750"	"78280750"	"subst"	"0"	"01804"	"ARSB_000071"	"g.78280750C>A"	""	""	""	"ARSB(NM_000046.5):c.312+10G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001052000"	"0"	"50"	"5"	"78076288"	"78076288"	"subst"	"5.68648E-5"	"01804"	"ARSB_000072"	"g.78076288C>T"	""	""	""	"ARSB(NM_000046.5):c.1534G>A (p.(Val512Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052001"	"0"	"50"	"5"	"78076305"	"78076305"	"subst"	"0"	"01804"	"ARSB_000073"	"g.78076305T>C"	""	""	""	"ARSB(NM_000046.5):c.1517A>G (p.(His506Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052002"	"0"	"50"	"5"	"78264853"	"78264853"	"subst"	"0.000117766"	"01804"	"ARSB_000074"	"g.78264853G>A"	""	""	""	"ARSB(NM_000046.5):c.475C>T (p.(Arg159Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes ARSB
## Count = 99
"{{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}}"
"0000001013"	"00000093"	"50"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000001014"	"00000093"	"50"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000001015"	"00000093"	"50"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000001016"	"00000093"	"50"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000001017"	"00000093"	"50"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000001018"	"00000093"	"50"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000001019"	"00000093"	"50"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000001020"	"00000093"	"50"	"317"	"0"	"317"	"0"	"c.317G>A"	"r.(?)"	"p.(Arg106His)"	""
"0000001021"	"00000093"	"50"	"98"	"0"	"98"	"0"	"c.98C>T"	"r.(?)"	"p.(Ala33Val)"	""
"0000234490"	"00000093"	"70"	"311"	"0"	"311"	"0"	"c.311A>C"	"r.(?)"	"p.(Gln104Pro)"	"1"
"0000234491"	"00000093"	"90"	"349"	"0"	"349"	"0"	"c.349T>C"	"r.(?)"	"p.(Cys117Arg)"	"2"
"0000249693"	"00000093"	"90"	"1143"	"-8"	"1143"	"-8"	"c.1143-8T>G"	"r.(=)"	"p.(=)"	""
"0000253793"	"00000093"	"10"	"691"	"-22"	"691"	"-22"	"c.691-22T>C"	"r.(=)"	"p.(=)"	""
"0000253794"	"00000093"	"10"	"313"	"-26"	"313"	"-26"	"c.313-26T>C"	"r.(=)"	"p.(=)"	""
"0000255460"	"00000093"	"90"	"659"	"0"	"659"	"0"	"c.659del"	"r.(?)"	"p.(Ile220LysfsTer4)"	""
"0000255526"	"00000093"	"90"	"962"	"0"	"962"	"0"	"c.962T>C"	"r.(?)"	"p.(Leu321Pro)"	""
"0000255680"	"00000093"	"90"	"1142"	"2"	"1142"	"2"	"c.1142+2T>C"	"r.spl?"	"p.?"	""
"0000259145"	"00000093"	"10"	"1072"	"0"	"1072"	"0"	"c.1072G>A"	"r.(?)"	"p.(Val358Met)"	""
"0000259766"	"00000093"	"90"	"1143"	"-1"	"1143"	"-1"	"c.1143-1G>C"	"r.spl?"	"p.?"	""
"0000259767"	"00000093"	"90"	"629"	"0"	"629"	"0"	"c.629A>G"	"r.(?)"	"p.(Tyr210Cys)"	""
"0000262987"	"00000093"	"10"	"1072"	"0"	"1072"	"0"	"c.1072G>A"	"r.(?)"	"p.(Val358Met)"	""
"0000262988"	"00000093"	"10"	"1143"	"-27"	"1143"	"-27"	"c.1143-27A>C"	"r.(=)"	"p.(=)"	""
"0000262989"	"00000093"	"10"	"1191"	"0"	"1191"	"0"	"c.1191G>A"	"r.(?)"	"p.(Pro397=)"	""
"0000262990"	"00000093"	"90"	"454"	"0"	"454"	"0"	"c.454C>T"	"r.(?)"	"p.(Arg152Trp)"	""
"0000262991"	"00000093"	"90"	"629"	"0"	"629"	"0"	"c.629A>G"	"r.(?)"	"p.(Tyr210Cys)"	""
"0000262992"	"00000093"	"90"	"710"	"0"	"710"	"0"	"c.710C>A"	"r.(?)"	"p.(Ala237Asp)"	""
"0000262993"	"00000093"	"90"	"937"	"0"	"937"	"0"	"c.937C>G"	"r.(?)"	"p.(Pro313Ala)"	""
"0000262994"	"00000093"	"90"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Pro313Ser)"	""
"0000262995"	"00000093"	"90"	"979"	"0"	"979"	"0"	"c.979C>T"	"r.(?)"	"p.(Arg327Ter)"	""
"0000526075"	"00000093"	"10"	"1362"	"0"	"1362"	"0"	"c.1362G>A"	"r.(?)"	"p.(Pro454=)"	""
"0000526076"	"00000093"	"10"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000526077"	"00000093"	"10"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000526078"	"00000093"	"10"	"1126"	"0"	"1126"	"0"	"c.1126G>A"	"r.(?)"	"p.(Val376Met)"	""
"0000526079"	"00000093"	"10"	"1126"	"0"	"1126"	"0"	"c.1126G>A"	"r.(?)"	"p.(Val376Met)"	""
"0000526080"	"00000093"	"50"	"923"	"0"	"923"	"0"	"c.923G>A"	"r.(?)"	"p.(Gly308Glu)"	""
"0000526081"	"00000093"	"50"	"200"	"0"	"200"	"0"	"c.200T>A"	"r.(?)"	"p.(Ile67Asn)"	""
"0000526082"	"00000093"	"30"	"113"	"0"	"121"	"0"	"c.113_121del"	"r.(?)"	"p.(Gly38_Gly40del)"	""
"0000609798"	"00000093"	"50"	"1450"	"0"	"1450"	"0"	"c.1450A>G"	"r.(?)"	"p.(Arg484Gly)"	""
"0000609799"	"00000093"	"50"	"1213"	"23269"	"1213"	"23269"	"c.1213+23269A>G"	"r.(=)"	"p.(=)"	""
"0000609800"	"00000093"	"30"	"750"	"0"	"750"	"0"	"c.750A>G"	"r.(?)"	"p.(Glu250=)"	""
"0000609801"	"00000093"	"30"	"76"	"0"	"76"	"0"	"c.76C>T"	"r.(?)"	"p.(Leu26=)"	""
"0000651768"	"00000093"	"70"	"284"	"0"	"284"	"0"	"c.284G>A"	"r.(?)"	"p.(Arg95Gln)"	""
"0000720500"	"00000093"	"90"	"629"	"0"	"629"	"0"	"c.629A>G"	"r.(?)"	"p.(Tyr210Cys)"	""
"0000720501"	"00000093"	"50"	"138"	"0"	"138"	"0"	"c.138C>A"	"r.(?)"	"p.(His46Gln)"	""
"0000720502"	"00000093"	"30"	"98"	"0"	"98"	"0"	"c.98C>T"	"r.(?)"	"p.(Ala33Val)"	""
"0000729828"	"00000093"	"90"	"1079"	"0"	"1079"	"0"	"c.1079T>C"	"r.(?)"	"p.(Leu360Pro)"	""
"0000729829"	"00000093"	"90"	"753"	"0"	"753"	"0"	"c.753C>G"	"r.(?)"	"p.(Tyr251*)"	""
"0000860002"	"00000093"	"30"	"1662"	"0"	"1662"	"0"	"c.*60G>A"	"r.(=)"	"p.(=)"	""
"0000860003"	"00000093"	"50"	"989"	"0"	"989"	"0"	"c.989G>T"	"r.(?)"	"p.(Gly330Val)"	""
"0000860004"	"00000093"	"90"	"962"	"0"	"962"	"0"	"c.962T>C"	"r.(?)"	"p.(Leu321Pro)"	""
"0000860005"	"00000093"	"30"	"658"	"0"	"658"	"0"	"c.658A>G"	"r.(?)"	"p.(Ile220Val)"	""
"0000860006"	"00000093"	"90"	"422"	"0"	"422"	"0"	"c.422A>C"	"r.(?)"	"p.(His141Pro)"	""
"0000873899"	"00000093"	"10"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000873925"	"00000093"	"10"	"1151"	"0"	"1151"	"0"	"c.1151G>A"	"r.(?)"	"p.(Ser384Asn)"	""
"0000886911"	"00000093"	"30"	"197"	"0"	"197"	"0"	"c.197G>A"	"r.(?)"	"p.(Arg66His)"	""
"0000912363"	"00000093"	"50"	"149"	"0"	"149"	"0"	"c.149T>G"	"r.(?)"	"p.(Leu50Trp)"	""
"0000933340"	"00000093"	"50"	"1139"	"0"	"1141"	"0"	"c.1139_1141del"	"r.(?)"	"p.(Ile380del)"	""
"0000963685"	"00000093"	"70"	"316"	"0"	"316"	"0"	"c.316C>T"	"r.(?)"	"p.(Arg106Cys)"	""
"0000976853"	"00000093"	"50"	"1453"	"0"	"1453"	"0"	"c.1453C>G"	"r.(?)"	"p.(His485Asp)"	""
"0000976854"	"00000093"	"90"	"937"	"0"	"937"	"0"	"c.937C>G"	"r.(?)"	"p.(Pro313Ala)"	""
"0000976855"	"00000093"	"50"	"914"	"0"	"914"	"0"	"c.914C>T"	"r.(?)"	"p.(Thr305Ile)"	""
"0000976856"	"00000093"	"70"	"342"	"0"	"342"	"0"	"c.342del"	"r.(?)"	"p.(Trp115Glyfs*19)"	""
"0000995173"	"00000093"	"30"	"1143"	"-5"	"1143"	"-5"	"c.1143-5T>C"	"r.spl?"	"p.?"	""
"0001011319"	"00000093"	"70"	"260"	"0"	"260"	"0"	"c.260C>G"	"r.(?)"	"p.(Thr87Arg)"	""
"0001011320"	"00000093"	"90"	"275"	"0"	"275"	"0"	"c.275C>T"	"r.(?)"	"p.(Thr92Met)"	""
"0001011321"	"00000093"	"70"	"1052"	"0"	"1052"	"0"	"c.1052C>T"	"r.(?)"	"p.(Ser351Phe)"	""
"0001011322"	"00000093"	"70"	"1449"	"0"	"1449"	"0"	"c.1449A>T"	"r.(?)"	"p.(Glu483Asp)"	""
"0001011360"	"00000093"	"70"	"312"	"0"	"312"	"0"	"c.312G>C"	"r.(?)"	"p.(Gln104His)"	""
"0001011361"	"00000093"	"70"	"1195"	"0"	"1195"	"0"	"c.1195T>C"	"r.(?)"	"p.(Phe399Leu)"	""
"0001012402"	"00000093"	"90"	"382"	"0"	"384"	"0"	"c.382_384del"	"r.(?)"	"p.(Leu129del)"	""
"0001012474"	"00000093"	"90"	"753"	"0"	"753"	"0"	"c.753C>G"	"r.(?)"	"p.(Tyr251Ter)"	""
"0001012475"	"00000093"	"90"	"275"	"0"	"275"	"0"	"c.275C>A"	"r.(?)"	"p.(Thr92Lys)"	""
"0001012476"	"00000093"	"90"	"691"	"-1"	"691"	"-1"	"c.691-1G>A"	"r.spl"	"p.?"	""
"0001012477"	"00000093"	"90"	"753"	"0"	"753"	"0"	"c.753C>G"	"r.(?)"	"p.(Tyr251Ter)"	""
"0001012478"	"00000093"	"90"	"753"	"0"	"753"	"0"	"c.753C>G"	"r.(?)"	"p.(Tyr251Ter)"	""
"0001012479"	"00000093"	"90"	"167"	"0"	"167"	"0"	"c.167G>A"	"r.(?)"	"p.(Gly56Asp)"	""
"0001012480"	"00000093"	"90"	"753"	"0"	"753"	"0"	"c.753C>G"	"r.(?)"	"p.(Tyr251Ter)"	""
"0001012481"	"00000093"	"90"	"962"	"0"	"962"	"0"	"c.962T>C"	"r.(?)"	"p.(Leu321Pro)"	""
"0001012482"	"00000093"	"90"	"1127"	"0"	"1127"	"0"	"c.1127T>A"	"r.(?)"	"p.(Val376Glu)"	""
"0001012490"	"00000093"	"90"	"293"	"0"	"293"	"0"	"c.293T>C"	"r.(?)"	"p.(Leu98Pro)"	""
"0001012491"	"00000093"	"90"	"923"	"0"	"923"	"0"	"c.923G>A"	"r.(?)"	"p.(Gly308Glu)"	""
"0001012780"	"00000093"	"90"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Arg160Ter)"	"2"
"0001012781"	"00000093"	"90"	"479"	"0"	"479"	"0"	"c.479G>A"	"r.(?)"	"p.(Arg160Gln)"	"2"
"0001012782"	"00000093"	"90"	"532"	"0"	"532"	"0"	"c.532C>T"	"r.(?)"	"p.(His178Tyr)"	"3"
"0001012783"	"00000093"	"90"	"904"	"0"	"904"	"0"	"c.904G>C"	"p.(Glu302Arg)"	"p.(Gly302Arg)"	"5"
"0001012784"	"00000093"	"90"	"312"	"2"	"312"	"2"	"c.312+2T>G"	"r.spl"	"p.?"	"1i"
"0001012800"	"00000093"	"90"	"1197"	"0"	"1197"	"0"	"c.1197C>G"	"r.(?)"	"p.(Phe399Leu)"	"6"
"0001012801"	"00000093"	"90"	"313"	"-1"	"690"	"1"	"c.(312+1_313-1)_(690+1_691-1)del"	"r.?"	"p.?"	"1i_3i"
"0001012802"	"00000093"	"50"	"1072"	"0"	"1072"	"0"	"c.1072G>T"	"r.(?)"	"p.(Val358Leu)"	"5i"
"0001012803"	"00000093"	"90"	"979"	"0"	"979"	"0"	"c.979C>T"	"r.(?)"	"p.(Arg327Ter)"	"5i"
"0001012804"	"00000093"	"90"	"960"	"0"	"960"	"0"	"c.960C>G"	"r.(?)"	"p.(Ser320Arg)"	"5"
"0001012805"	"00000093"	"90"	"691"	"-1"	"898"	"1"	"c.(690+1_691-1)_(898+1_899-1)del"	"r.?"	"p.?"	"3i_4i"
"0001035318"	"00000093"	"50"	"1167"	"0"	"1172"	"0"	"c.1167_1172dup"	"r.(?)"	"p.(Glu390_Leu391dup)"	""
"0001035319"	"00000093"	"50"	"1081"	"0"	"1081"	"0"	"c.1081G>T"	"r.(?)"	"p.(Ala361Ser)"	""
"0001035320"	"00000093"	"90"	"629"	"0"	"629"	"0"	"c.629A>G"	"r.(?)"	"p.(Tyr210Cys)"	""
"0001035321"	"00000093"	"30"	"312"	"10"	"312"	"10"	"c.312+10G>T"	"r.(=)"	"p.(=)"	""
"0001052000"	"00000093"	"50"	"1534"	"0"	"1534"	"0"	"c.1534G>A"	"r.(?)"	"p.(Val512Met)"	""
"0001052001"	"00000093"	"50"	"1517"	"0"	"1517"	"0"	"c.1517A>G"	"r.(?)"	"p.(His506Arg)"	""
"0001052002"	"00000093"	"50"	"475"	"0"	"475"	"0"	"c.475C>T"	"r.(?)"	"p.(Arg159Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 45
"{{screeningid}}"	"{{variantid}}"
"0000000009"	"0000001019"
"0000000015"	"0000001014"
"0000000027"	"0000001018"
"0000000052"	"0000001017"
"0000000069"	"0000001016"
"0000000072"	"0000001021"
"0000000086"	"0000001015"
"0000000094"	"0000001013"
"0000000099"	"0000001020"
"0000144053"	"0000234490"
"0000144053"	"0000234491"
"0000295079"	"0000651768"
"0000332546"	"0000729828"
"0000332547"	"0000729829"
"0000415985"	"0000873899"
"0000415987"	"0000873925"
"0000456934"	"0001011319"
"0000456935"	"0001011320"
"0000456935"	"0001011360"
"0000456936"	"0001011321"
"0000456937"	"0001011322"
"0000456937"	"0001011361"
"0000457855"	"0001012402"
"0000457909"	"0001012474"
"0000457910"	"0001012475"
"0000457910"	"0001012490"
"0000457911"	"0001012476"
"0000457912"	"0001012477"
"0000457913"	"0001012478"
"0000457914"	"0001012479"
"0000457915"	"0001012480"
"0000457915"	"0001012491"
"0000457916"	"0001012481"
"0000457917"	"0001012482"
"0000458171"	"0001012780"
"0000458171"	"0001012800"
"0000458172"	"0001012781"
"0000458172"	"0001012801"
"0000458173"	"0001012782"
"0000458173"	"0001012802"
"0000458173"	"0001012803"
"0000458174"	"0001012783"
"0000458174"	"0001012804"
"0000458175"	"0001012784"
"0000458175"	"0001012805"