### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ADA)
# 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}}"
"ADA"	"adenosine deaminase"	"20"	"q13.12"	"unknown"	"NG_007385.1"	"UD_132119056063"	""	"https://www.LOVD.nl/ADA"	""	"1"	"186"	"100"	"608958"	"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/ADA_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2020-09-23 16:15:18"	"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}}"
"00000165"	"ADA"	"adenosine deaminase"	"001"	"NM_000022.2"	""	"NP_000013.2"	""	""	""	"-128"	"1404"	"1092"	"43280376"	"43248163"	"00002"	"2012-05-11 13:12:18"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"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"
"01163"	"SCIDADA"	"immunodeficiency, severe combined, due to ADA deficiency"	"SMo;AR"	"102700"	""	""	""	"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"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ADA"	"01163"


## Individuals ## Do not remove or alter this header ##
## Count = 53
"{{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}}"
"00000008"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000011"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	"M"	""	""	""	"0"	""	""	""	"NA04364"
"00000012"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000016"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000030"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000031"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000035"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000050"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000056"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000061"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000063"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000068"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000084"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000085"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000107"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00150110"	""	""	""	"1"	""	"02359"	""	""	"M"	"yes"	"Turkey"	"00y06m"	"0"	""	""	"Turkısh"	""
"00204477"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204478"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204479"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204480"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204481"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204482"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204483"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204484"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204485"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204486"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204487"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204488"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204489"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204490"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204491"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204492"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204493"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204494"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204495"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204496"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204497"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204498"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204499"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204500"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204501"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204502"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204503"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204504"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204505"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00204506"	""	""	""	"1"	""	"00233"	""	""	""	""	""	""	"0"	""	""	""	""
"00292930"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292931"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292932"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292933"	""	""	""	"8"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00414704"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01210"
"00414705"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01899"
"00414706"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA03575"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 44
"{{individualid}}"	"{{diseaseid}}"
"00000011"	"00198"
"00000012"	"00138"
"00000012"	"05378"
"00000016"	"00138"
"00000016"	"05378"
"00000030"	"00000"
"00150110"	"01163"
"00204477"	"01163"
"00204478"	"01163"
"00204479"	"01163"
"00204480"	"01163"
"00204481"	"01163"
"00204482"	"01163"
"00204483"	"01163"
"00204484"	"01163"
"00204485"	"01163"
"00204486"	"01163"
"00204487"	"01163"
"00204488"	"01163"
"00204489"	"01163"
"00204490"	"01163"
"00204491"	"01163"
"00204492"	"01163"
"00204493"	"01163"
"00204494"	"01163"
"00204495"	"01163"
"00204496"	"01163"
"00204497"	"01163"
"00204498"	"01163"
"00204499"	"01163"
"00204500"	"01163"
"00204501"	"01163"
"00204502"	"01163"
"00204503"	"01163"
"00204504"	"01163"
"00204505"	"01163"
"00204506"	"01163"
"00292930"	"00198"
"00292931"	"00198"
"00292932"	"00198"
"00292933"	"00198"
"00414704"	"04214"
"00414705"	"04214"
"00414706"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 01163, 04214, 05378
## Count = 4
"{{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}}"
"0000122533"	"01163"	"00150110"	"02359"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000306499"	"04214"	"00414704"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"galactosemia"	""	""
"0000306500"	"04214"	"00414705"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	"Lesch-Nyhan syndrome"	""	""
"0000306501"	"04214"	"00414706"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Tay-Sachs disease"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 53
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000008"	"00000008"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000011"	"00000011"	"1"	"00004"	""	"2012-05-11 13:18:38"	"00006"	"2021-10-11 11:49:29"	"SEQ-NG"	"DNA"	""	""
"0000000012"	"00000012"	"1"	"00004"	""	"2012-05-11 13:18:38"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000016"	"00000016"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000030"	"00000030"	"1"	"00004"	""	"2012-05-11 13:18:43"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000031"	"00000031"	"1"	"00004"	""	"2012-05-11 13:18:43"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000035"	"00000035"	"1"	"00004"	""	"2012-05-11 13:18:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000050"	"00000050"	"1"	"00004"	""	"2012-05-11 13:18:49"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000056"	"00000056"	"1"	"00004"	""	"2012-05-11 13:18:52"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000061"	"00000061"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000063"	"00000063"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000068"	"00000068"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000084"	"00000084"	"1"	"00004"	""	"2012-05-11 13:19:09"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000085"	"00000085"	"1"	"00004"	""	"2012-05-11 13:19:11"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000107"	"00000107"	"1"	"00004"	""	"2012-05-11 13:19:58"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000150965"	"00150110"	"1"	"02359"	"02359"	"2018-01-10 09:52:44"	""	""	"SEQ-NG"	"DNA"	"blood"	"amplicon sequencing"
"0000205506"	"00204477"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205507"	"00204478"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205508"	"00204479"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205509"	"00204480"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205510"	"00204481"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205511"	"00204482"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205512"	"00204483"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205513"	"00204484"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205514"	"00204485"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205515"	"00204486"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205516"	"00204487"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205517"	"00204488"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205518"	"00204489"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205519"	"00204490"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205520"	"00204491"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205521"	"00204492"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205522"	"00204493"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205523"	"00204494"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205524"	"00204495"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205525"	"00204496"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205526"	"00204497"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205527"	"00204498"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205528"	"00204499"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205529"	"00204500"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205530"	"00204501"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205531"	"00204502"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205532"	"00204503"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205533"	"00204504"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205534"	"00204505"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000205535"	"00204506"	"1"	"00233"	"00233"	"2012-02-29 11:28:23"	""	""	"SEQ"	"DNA"	""	""
"0000294098"	"00292930"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294099"	"00292931"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294100"	"00292932"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294101"	"00292933"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000415985"	"00414704"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000415986"	"00414705"	"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"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 221
"{{screeningid}}"	"{{geneid}}"
"0000000008"	"ACADM"
"0000000008"	"ADA"
"0000000008"	"ATP7B"
"0000000008"	"CFTR"
"0000000008"	"ETFB"
"0000000008"	"FKTN"
"0000000008"	"HESX1"
"0000000008"	"HGSNAT"
"0000000008"	"MYO5A"
"0000000008"	"NPHS1"
"0000000008"	"SERPINA1"
"0000000008"	"USH2A"
"0000000011"	"ACADM"
"0000000011"	"ADA"
"0000000011"	"ATP7B"
"0000000011"	"ATR"
"0000000011"	"CFTR"
"0000000011"	"DMD"
"0000000011"	"DPYD"
"0000000011"	"GLB1"
"0000000011"	"IGHMBP2"
"0000000011"	"NHLRC1"
"0000000011"	"SERPINA1"
"0000000011"	"SMPD1"
"0000000011"	"TNNT1"
"0000000012"	"ACADVL"
"0000000012"	"ADA"
"0000000012"	"AGL"
"0000000012"	"ATP7B"
"0000000012"	"CYP21A2"
"0000000012"	"DPYD"
"0000000012"	"ETFB"
"0000000012"	"GBA"
"0000000012"	"HGSNAT"
"0000000012"	"IGHMBP2"
"0000000012"	"LAMA2"
"0000000012"	"MYO5A"
"0000000012"	"NHLRC1"
"0000000012"	"NPHS1"
"0000000012"	"SERPINA1"
"0000000012"	"SLC26A2"
"0000000016"	"ADA"
"0000000016"	"ALG6"
"0000000016"	"ATP7B"
"0000000016"	"CFTR"
"0000000016"	"DPYD"
"0000000016"	"ENPP1"
"0000000016"	"GLB1"
"0000000016"	"IGHMBP2"
"0000000016"	"NPHS1"
"0000000016"	"PKHD1"
"0000000030"	"ADA"
"0000000030"	"ATP7B"
"0000000030"	"CPT2"
"0000000030"	"GALC"
"0000000030"	"HEXB"
"0000000030"	"IGHMBP2"
"0000000030"	"NHLRC1"
"0000000030"	"SBDS"
"0000000030"	"SERPINA1"
"0000000030"	"SLC26A2"
"0000000030"	"SMPD1"
"0000000030"	"TTPA"
"0000000030"	"WNT10A"
"0000000031"	"ADA"
"0000000031"	"ATP7B"
"0000000031"	"CYP21A2"
"0000000031"	"DPYD"
"0000000031"	"ETFB"
"0000000031"	"FKTN"
"0000000031"	"GAA"
"0000000031"	"GLB1"
"0000000031"	"IGHMBP2"
"0000000031"	"NHLRC1"
"0000000031"	"NPHS1"
"0000000031"	"SERPINA1"
"0000000031"	"TMEM67"
"0000000031"	"WNT10A"
"0000000035"	"ADA"
"0000000035"	"ATP7B"
"0000000035"	"BLM"
"0000000035"	"CFTR"
"0000000035"	"DPYD"
"0000000035"	"ETFB"
"0000000035"	"GLB1"
"0000000035"	"HBB"
"0000000035"	"IGHMBP2"
"0000000035"	"MYO5A"
"0000000035"	"PKHD1"
"0000000035"	"SERPINA1"
"0000000035"	"SMPD1"
"0000000050"	"ADA"
"0000000050"	"ATP7B"
"0000000050"	"CYP21A2"
"0000000050"	"DPYD"
"0000000050"	"ETFB"
"0000000050"	"GLB1"
"0000000050"	"IGHMBP2"
"0000000056"	"ACADL"
"0000000056"	"ADA"
"0000000056"	"ASPA"
"0000000056"	"ATP7B"
"0000000056"	"BTD"
"0000000056"	"CYP27A1"
"0000000056"	"DPYD"
"0000000056"	"ETFB"
"0000000056"	"GLB1"
"0000000056"	"HEXB"
"0000000056"	"IGHMBP2"
"0000000056"	"NPHS1"
"0000000056"	"SERPINA1"
"0000000056"	"SLC26A2"
"0000000061"	"ADA"
"0000000061"	"ATP7B"
"0000000061"	"BTD"
"0000000061"	"ETFB"
"0000000061"	"GLB1"
"0000000061"	"HEXB"
"0000000061"	"HSPG2"
"0000000061"	"MTHFR"
"0000000061"	"POMGNT1"
"0000000061"	"SERPINA1"
"0000000061"	"SMPD1"
"0000000063"	"ADA"
"0000000063"	"ATP7B"
"0000000063"	"COL7A1"
"0000000063"	"ETFB"
"0000000063"	"GLB1"
"0000000063"	"LYST"
"0000000063"	"MEFV"
"0000000063"	"NHLRC1"
"0000000063"	"NPHS1"
"0000000063"	"NTRK1"
"0000000063"	"SERPINA1"
"0000000068"	"ADA"
"0000000068"	"ATP7B"
"0000000068"	"BMPR2"
"0000000068"	"CDH23"
"0000000068"	"CYP21A2"
"0000000068"	"ENPP1"
"0000000068"	"ETFB"
"0000000068"	"FKTN"
"0000000068"	"HBB"
"0000000068"	"HGSNAT"
"0000000068"	"IGHMBP2"
"0000000068"	"IVD"
"0000000068"	"MTHFR"
"0000000068"	"MYO5A"
"0000000068"	"NPHS1"
"0000000068"	"SERPINA1"
"0000000084"	"ADA"
"0000000084"	"CPT1A"
"0000000084"	"FKRP"
"0000000084"	"GAA"
"0000000084"	"GLB1"
"0000000084"	"MYO5A"
"0000000084"	"NHLRC1"
"0000000084"	"NPHS1"
"0000000084"	"RAG1"
"0000000084"	"SERPINA1"
"0000000084"	"SMPD1"
"0000000085"	"ADA"
"0000000085"	"ATP7B"
"0000000085"	"ETFB"
"0000000085"	"FGG"
"0000000085"	"FKTN"
"0000000085"	"HEXB"
"0000000085"	"IGHMBP2"
"0000000085"	"MYO5A"
"0000000085"	"NHLRC1"
"0000000085"	"PKHD1"
"0000000085"	"POLG"
"0000000085"	"SERPINA1"
"0000000085"	"SGSH"
"0000000107"	"ADA"
"0000000107"	"BTD"
"0000000107"	"CLN3"
"0000000107"	"CLRN1"
"0000000107"	"CYP21A2"
"0000000107"	"GLB1"
"0000000107"	"MEFV"
"0000000107"	"MYO5A"
"0000000107"	"NHLRC1"
"0000000107"	"NPHS1"
"0000000107"	"SERPINA1"
"0000000107"	"SLC26A2"
"0000000107"	"WNT10A"
"0000150965"	"ADA"
"0000205506"	"ADA"
"0000205507"	"ADA"
"0000205508"	"ADA"
"0000205509"	"ADA"
"0000205510"	"ADA"
"0000205511"	"ADA"
"0000205512"	"ADA"
"0000205513"	"ADA"
"0000205514"	"ADA"
"0000205515"	"ADA"
"0000205516"	"ADA"
"0000205517"	"ADA"
"0000205518"	"ADA"
"0000205519"	"ADA"
"0000205520"	"ADA"
"0000205521"	"ADA"
"0000205522"	"ADA"
"0000205523"	"ADA"
"0000205524"	"ADA"
"0000205525"	"ADA"
"0000205526"	"ADA"
"0000205527"	"ADA"
"0000205528"	"ADA"
"0000205529"	"ADA"
"0000205530"	"ADA"
"0000205531"	"ADA"
"0000205532"	"ADA"
"0000205533"	"ADA"
"0000205534"	"ADA"
"0000205535"	"ADA"
"0000415985"	"GALT"
"0000415986"	"HPRT1"
"0000415987"	"HEXA"


## 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 = 107
"{{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}}"
"0000000872"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000874"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000876"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000877"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000879"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000880"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000881"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000882"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000883"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000884"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000885"	"0"	"50"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00002"	"ADA_000030"	"g.43255220T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626579T>C"	""	"VUS"	""
"0000000886"	"0"	"50"	"20"	"43249723"	"43249723"	"subst"	"3.6545E-5"	"00002"	"ADA_000031"	"g.43249723A>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44621082A>C"	""	"VUS"	""
"0000000887"	"0"	"50"	"20"	"43249032"	"43249032"	"subst"	"4.87294E-5"	"00002"	"ADA_000028"	"g.43249032G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44620391G>A"	""	"VUS"	""
"0000000888"	"0"	"50"	"20"	"43249032"	"43249032"	"subst"	"4.87294E-5"	"00002"	"ADA_000028"	"g.43249032G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44620391G>A"	""	"VUS"	""
"0000000889"	"0"	"50"	"20"	"43251694"	"43251694"	"subst"	"5.68819E-5"	"00002"	"ADA_000022"	"g.43251694C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44623053C>T"	""	"VUS"	""
"0000000890"	"0"	"50"	"20"	"43255233"	"43255233"	"subst"	"0.000263994"	"00002"	"ADA_000002"	"g.43255233G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626592G>A"	""	"VUS"	""
"0000000891"	"0"	"50"	"20"	"43255139"	"43255139"	"subst"	"6.49699E-5"	"00002"	"ADA_000007"	"g.43255139A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44626498A>G"	""	"VUS"	""
"0000000892"	"0"	"50"	"20"	"43251253"	"43251253"	"subst"	"4.06187E-5"	"00002"	"ADA_000026"	"g.43251253G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44622612G>A"	""	"VUS"	""
"0000000893"	"0"	"50"	"20"	"43254222"	"43254222"	"subst"	"0"	"00002"	"ADA_000015"	"g.43254222G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.44625581G>A"	""	"VUS"	""
"0000000894"	"0"	"90"	"20"	"43255242"	"43255242"	"subst"	"0"	"00002"	"ADA_000032"	"g.43255242T>C"	""	""	""	"IVS3-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.44626601T>C"	""	"pathogenic"	""
"0000244112"	"3"	"90"	"20"	"43254208"	"43254208"	"subst"	"0"	"02359"	"ADA_000033"	"g.43254208A>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44625567A>G"	""	"pathogenic"	""
"0000258923"	"0"	"10"	"20"	"43264927"	"43264927"	"subst"	"0.996422"	"02325"	"ADA_000039"	"g.43264927C>T"	""	""	""	"ADA(NM_000022.4):c.36G>A (p.V12=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44636286C>T"	""	"benign"	""
"0000260591"	"0"	"30"	"20"	"43257744"	"43257744"	"subst"	"0.00329359"	"02326"	"ADA_000038"	"g.43257744C>T"	""	""	""	"ADA(NM_000022.2):c.162G>A (p.K54=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44629103C>T"	""	"likely benign"	""
"0000260592"	"0"	"10"	"20"	"43280227"	"43280227"	"subst"	"0.0621731"	"02326"	"ADA_000040"	"g.43280227C>T"	""	""	""	"ADA(NM_000022.2):c.22G>A (p.D8N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44651586C>T"	""	"benign"	""
"0000260593"	"0"	"30"	"20"	"43254263"	"43254263"	"subst"	"0.000972089"	"02326"	"ADA_000037"	"g.43254263C>T"	""	""	""	"ADA(NM_000022.2):c.425G>A (p.R142Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44625622C>T"	""	"likely benign"	""
"0000260594"	"0"	"30"	"20"	"43252833"	"43252833"	"subst"	"0.000632198"	"02326"	"ADA_000036"	"g.43252833C>T"	""	""	""	"ADA(NM_000022.2):c.606+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44624192C>T"	""	"likely benign"	""
"0000260595"	"0"	"90"	"20"	"43251514"	"43251514"	"subst"	"0"	"02326"	"ADA_000035"	"g.43251514G>A"	""	""	""	"ADA(NM_000022.2):c.736C>T (p.Q246*), ADA(NM_000022.4):c.736C>T (p.Q246*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44622873G>A"	""	"pathogenic"	""
"0000261941"	"0"	"30"	"20"	"43248975"	"43248975"	"subst"	"0"	"01943"	"ADA_000034"	"g.43248975T>G"	""	""	""	"ADA(NM_000022.2):c.1043A>C (p.Y348S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44620334T>G"	""	"likely benign"	""
"0000261942"	"0"	"30"	"20"	"43257744"	"43257744"	"subst"	"0.00329359"	"01943"	"ADA_000038"	"g.43257744C>T"	""	""	""	"ADA(NM_000022.2):c.162G>A (p.K54=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44629103C>T"	""	"likely benign"	""
"0000261943"	"0"	"30"	"20"	"43252833"	"43252833"	"subst"	"0.000632198"	"01943"	"ADA_000036"	"g.43252833C>T"	""	""	""	"ADA(NM_000022.2):c.606+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44624192C>T"	""	"likely benign"	""
"0000343350"	"0"	"90"	"20"	"43255233"	"43255233"	"subst"	"0.000263994"	"02327"	"ADA_000002"	"g.43255233G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44626592G>A"	""	"pathogenic"	""
"0000434892"	"0"	"95"	"20"	"43264920"	"43264920"	"subst"	"8.49574E-6"	"00233"	"ADA_000011"	"g.43264920G>C"	""	"{PMID:Santisteban et al (1995):7599635}"	""	""	"submitted through SIB; {EXP:002210}"	"Unknown"	""	""	"0"	""	""	"g.44636279G>C"	""	"pathogenic"	""
"0000434893"	"0"	"95"	"20"	"43264905"	"43264905"	"subst"	"0"	"00233"	"ADA_000019"	"g.43264905C>T"	""	"{PMID:Yang et al (1994):8299233}"	""	""	"submitted through SIB; {EXP:002211}"	"Unknown"	""	""	"0"	""	""	"g.44636264C>T"	""	"pathogenic"	""
"0000434894"	"0"	"95"	"20"	"43255239"	"43255239"	"subst"	"0"	"00233"	"ADA_000001"	"g.43255239C>A"	""	"{PMID:Arrendondo-Vega et al (1998):10200056}"	""	""	"submitted through SIB; {EXP:002212}"	"Unknown"	""	""	"0"	""	""	"g.44626598C>A"	""	"pathogenic"	""
"0000434895"	"0"	"95"	"20"	"43255233"	"43255233"	"subst"	"0.000263994"	"00233"	"ADA_000002"	"g.43255233G>A"	""	"{PMID:Hirschhorn et al (1990):2166947}"	""	""	"submitted through SIB; {EXP:002213}"	"Unknown"	""	""	"0"	""	""	"g.44626592G>A"	""	"pathogenic"	""
"0000434896"	"0"	"95"	"20"	"43255211"	"43255211"	"subst"	"0"	"00233"	"ADA_000003"	"g.43255211G>T"	""	"{PMID:Santisteban et al (1995):7599635}"	""	""	"submitted through SIB; {EXP:002215}"	"Unknown"	""	""	"0"	""	""	"g.44626570G>T"	""	"pathogenic"	""
"0000434897"	"0"	"95"	"20"	"43255158"	"43255158"	"subst"	"0"	"00233"	"ADA_000004"	"g.43255158G>A"	""	"{PMID:Akeson et al (1988):3182793}"	""	""	"submitted through SIB; {EXP:002217}"	"Unknown"	""	""	"0"	""	""	"g.44626517G>A"	""	"pathogenic"	""
"0000434898"	"0"	"95"	"20"	"43255157"	"43255157"	"subst"	"8.12117E-6"	"00233"	"ADA_000005"	"g.43255157C>T"	""	"{PMID:Bonthron et al (1985):3839802}"	""	""	"submitted through SIB; {EXP:002218}"	"Unknown"	""	""	"0"	""	""	"g.44626516C>T"	""	"pathogenic"	""
"0000434899"	"0"	"95"	"20"	"43255157"	"43255157"	"subst"	"0"	"00233"	"ADA_000006"	"g.43255157C>A"	""	"{PMID:Santisteban et al (1993):8227344}"	""	""	"submitted through SIB; {EXP:002216}"	"Unknown"	""	""	"0"	""	""	"g.44626516C>A"	""	"pathogenic"	""
"0000434900"	"0"	"95"	"20"	"43255139"	"43255139"	"subst"	"6.49699E-5"	"00233"	"ADA_000007"	"g.43255139A>G"	""	"{PMID:Hirschhorn et al (1990):2166947}"	""	""	"submitted through SIB; {EXP:002219}"	"Unknown"	""	""	"0"	""	""	"g.44626498A>G"	""	"pathogenic"	""
"0000434901"	"0"	"95"	"20"	"43254303"	"43254303"	"subst"	"0"	"00233"	"ADA_000008"	"g.43254303C>T"	""	"{PMID:Arrendondo-Vega et al (1998):10200056}"	""	""	"submitted through SIB; {EXP:002220}"	"Unknown"	""	""	"0"	""	""	"g.44625662C>T"	""	"pathogenic"	""
"0000434902"	"0"	"95"	"20"	"43254269"	"43254269"	"subst"	"0"	"00233"	"ADA_000009"	"g.43254269C>T"	""	"{PMID:Arrendondo-Vega et al (1998):10200056}"	""	""	"submitted through SIB; {EXP:002221}"	"Unknown"	""	""	"0"	""	""	"g.44625628C>T"	""	"pathogenic"	""
"0000434903"	"0"	"95"	"20"	"43254263"	"43254263"	"subst"	"0.000972089"	"00233"	"ADA_000010"	"g.43254263C>T"	""	"{PMID:Santisteban et al (1995):8589684}"	""	""	"submitted through SIB; {EXP:002222}"	"Unknown"	""	""	"0"	""	""	"g.44625622C>T"	""	"pathogenic"	""
"0000434904"	"0"	"95"	"20"	"43254243"	"43254243"	"subst"	"1.45791E-5"	"00233"	"ADA_000012"	"g.43254243G>A"	""	"{PMID:Arrendondo-Vega et al (1998):10200056}"	""	""	"submitted through SIB; {EXP:002224}"	"Unknown"	""	""	"0"	""	""	"g.44625602G>A"	""	"pathogenic"	""
"0000434905"	"0"	"95"	"20"	"43254242"	"43254242"	"subst"	"0"	"00233"	"ADA_000013"	"g.43254242C>T"	""	"{PMID:Hirschhorn et al (1990):2166947}"	""	""	"submitted through SIB; {EXP:002223}"	"Unknown"	""	""	"0"	""	""	"g.44625601C>T"	""	"pathogenic"	""
"0000434906"	"0"	"95"	"20"	"43254234"	"43254234"	"subst"	"0.000171577"	"00233"	"ADA_000014"	"g.43254234G>T"	""	"{PMID:Hirschhorn et al (1997):9225964}"	""	""	"submitted through SIB; {EXP:002225}; partial ADA deficiency; found in a healthy Afghani child"	"Unknown"	""	""	"0"	""	""	"g.44625593G>T"	""	"pathogenic"	""
"0000434907"	"0"	"95"	"20"	"43254222"	"43254222"	"subst"	"0"	"00233"	"ADA_000015"	"g.43254222G>A"	""	"{PMID:Hirschhorn et al (1992):1284479}"	""	""	"submitted through SIB; {EXP:002226}"	"Unknown"	""	""	"0"	""	""	"g.44625581G>A"	""	"pathogenic"	""
"0000434908"	"0"	"95"	"20"	"43254221"	"43254221"	"subst"	"0"	"00233"	"ADA_000016"	"g.43254221C>T"	""	"{PMID:Santisteban et al (1993):8227344}"	""	""	"submitted through SIB; {EXP:002227}"	"Unknown"	""	""	"0"	""	""	"g.44625580C>T"	""	"pathogenic"	""
"0000434909"	"0"	"95"	"20"	"43252920"	"43252920"	"subst"	"2.03089E-5"	"00233"	"ADA_000017"	"g.43252920C>T"	""	"{PMID:Santisteban et al (1993):8227344}"	""	""	"submitted through SIB; {EXP:002228}"	"Unknown"	""	""	"0"	""	""	"g.44624279C>T"	""	"pathogenic"	""
"0000434910"	"0"	"95"	"20"	"43252913"	"43252913"	"subst"	"1.62479E-5"	"00233"	"ADA_000018"	"g.43252913G>T"	""	"{PMID:Santisteban et al (1995):7599635}"	""	""	"submitted through SIB; {EXP:002229}"	"Unknown"	""	""	"0"	""	""	"g.44624272G>T"	""	"pathogenic"	""
"0000434911"	"0"	"95"	"20"	"43252853"	"43252853"	"subst"	"0"	"00233"	"ADA_000020"	"g.43252853T>G"	""	"{PMID:Arrendondo-Vega et al (1998):10200056}"	""	""	"submitted through SIB; {EXP:002230}"	"Unknown"	""	""	"0"	""	""	"g.44624212T>G"	""	"pathogenic"	""
"0000434912"	"0"	"95"	"20"	"43251695"	"43251695"	"subst"	"0.000121886"	"00233"	"ADA_000021"	"g.43251695G>A"	""	"{PMID:Hirschhorn et al (1990):2166947}"	""	""	"submitted through SIB; {EXP:002231}"	"Unknown"	""	""	"0"	""	""	"g.44623054G>A"	""	"pathogenic"	""
"0000434913"	"0"	"95"	"20"	"43251694"	"43251694"	"subst"	"5.68819E-5"	"00233"	"ADA_000022"	"g.43251694C>T"	""	"{PMID:Akeson et al (1988):3182793}"	""	""	"submitted through SIB; {EXP:002232}"	"Unknown"	""	""	"0"	""	""	"g.44623053C>T"	""	"pathogenic"	""
"0000434914"	"0"	"95"	"20"	"43251683"	"43251683"	"subst"	"7.7173E-5"	"00233"	"ADA_000023"	"g.43251683C>T"	""	"{PMID:Hirschhorn et al (1990):2166947}"	""	""	"submitted through SIB; {EXP:002233}"	"Unknown"	""	""	"0"	""	""	"g.44623042C>T"	""	"pathogenic"	""
"0000434915"	"0"	"95"	"20"	"43251680"	"43251680"	"subst"	"8.12321E-6"	"00233"	"ADA_000024"	"g.43251680C>T"	""	"{PMID:Santisteban et al (1993):8227344}"	""	""	"submitted through SIB; {EXP:002234}"	"Unknown"	""	""	"0"	""	""	"g.44623039C>T"	""	"pathogenic"	""
"0000434916"	"0"	"95"	"20"	"43251552"	"43251552"	"subst"	"0"	"00233"	"ADA_000025"	"g.43251552G>A"	""	"{PMID:Hirschhorn et al (1997):9225964}"	""	""	"submitted through SIB; {EXP:002235}; partial ADA deficiency; found in a healthy young adult Kung individual"	"Unknown"	""	""	"0"	""	""	"g.44622911G>A"	""	"pathogenic"	""
"0000434917"	"0"	"95"	"20"	"43251253"	"43251253"	"subst"	"4.06187E-5"	"00233"	"ADA_000026"	"g.43251253G>A"	""	"{PMID:Hirschhorn et al (1990):2166947}"	""	""	"submitted through SIB; {EXP:002236}"	"Unknown"	""	""	"0"	""	""	"g.44622612G>A"	""	"pathogenic"	""
"0000434918"	"0"	"95"	"20"	"43249762"	"43249762"	"subst"	"2.03028E-5"	"00233"	"ADA_000027"	"g.43249762G>A"	""	"{PMID:Santisteban et al (1993):8227344}"	""	""	"submitted through SIB; {EXP:002237}"	"Unknown"	""	""	"0"	""	""	"g.44621121G>A"	""	"pathogenic"	""
"0000434919"	"0"	"95"	"20"	"43249762"	"43249762"	"subst"	"2.03028E-5"	"00233"	"ADA_000027"	"g.43249762G>A"	""	"{PMID:Hirschhorn et al (1992):1284479}"	""	""	"submitted through SIB; {EXP:002237}"	"Unknown"	""	""	"0"	""	""	"g.44621121G>A"	""	"pathogenic"	""
"0000434920"	"0"	"95"	"20"	"43249744"	"43249744"	"subst"	"2.43635E-5"	"00233"	"ADA_000029"	"g.43249744G>T"	""	"{PMID:Hirschhorn et al (1989):2783588}"	""	""	"submitted through SIB; {EXP:002238}; partial ADA deficiency"	"Unknown"	""	""	"0"	""	""	"g.44621103G>T"	""	"pathogenic"	""
"0000434921"	"0"	"95"	"20"	"43249032"	"43249032"	"subst"	"4.87294E-5"	"00233"	"ADA_000028"	"g.43249032G>A"	""	"{PMID:Akeson et al (1988):3182793}"	""	""	"submitted through SIB; {EXP:002240}"	"Unknown"	""	""	"0"	""	""	"g.44620391G>A"	""	"pathogenic"	""
"0000569766"	"0"	"30"	"20"	"43246938"	"43246938"	"subst"	"4.06455E-6"	"01804"	"ADA_000041"	"g.43246938A>C"	""	""	""	"PKIG(NM_001281444.1):c.164A>C (p.(Glu55Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44618297A>C"	""	"likely benign"	""
"0000569767"	"0"	"90"	"20"	"43249762"	"43249762"	"subst"	"2.03028E-5"	"01943"	"ADA_000027"	"g.43249762G>A"	""	""	""	"ADA(NM_000022.2):c.872C>T (p.S291L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44621121G>A"	""	"pathogenic"	""
"0000569768"	"0"	"30"	"20"	"43252979"	"43252979"	"subst"	"2.84407E-5"	"01943"	"ADA_000042"	"g.43252979G>A"	""	""	""	"ADA(NM_000022.2):c.479-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44624338G>A"	""	"likely benign"	""
"0000569769"	"0"	"30"	"20"	"43254263"	"43254263"	"subst"	"0.000972089"	"01943"	"ADA_000010"	"g.43254263C>T"	""	""	""	"ADA(NM_000022.2):c.425G>A (p.R142Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44625622C>T"	""	"likely benign"	""
"0000569770"	"0"	"90"	"20"	"43254264"	"43254264"	"subst"	"0"	"01943"	"ADA_000043"	"g.43254264G>A"	""	""	""	"ADA(NM_000022.2):c.424C>T (p.R142*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44625623G>A"	""	"pathogenic"	""
"0000569771"	"0"	"30"	"20"	"43257800"	"43257800"	"subst"	"4.06355E-6"	"01804"	"ADA_000044"	"g.43257800T>G"	""	""	""	"ADA(NM_000022.2):c.106A>C (p.(Ile36Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44629159T>G"	""	"likely benign"	""
"0000569772"	"0"	"10"	"20"	"43264859"	"43264859"	"subst"	"0.000668629"	"01943"	"ADA_000045"	"g.43264859T>C"	""	""	""	"ADA(NM_000022.2):c.95+9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44636218T>C"	""	"benign"	""
"0000569773"	"0"	"30"	"20"	"43280228"	"43280228"	"subst"	"0"	"01943"	"ADA_000046"	"g.43280228G>A"	""	""	""	"ADA(NM_000022.2):c.21C>T (p.F7=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44651587G>A"	""	"likely benign"	""
"0000618165"	"0"	"90"	"20"	"43249032"	"43249032"	"subst"	"4.87294E-5"	"02327"	"ADA_000028"	"g.43249032G>A"	""	""	""	"ADA(NM_000022.2):c.986C>T (p.A329V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44620391G>A"	""	"pathogenic"	""
"0000618166"	"0"	"30"	"20"	"43249693"	"43249693"	"subst"	"7.71505E-5"	"01943"	"ADA_000048"	"g.43249693T>C"	""	""	""	"ADA(NM_000022.2):c.941A>G (p.D314G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44621052T>C"	""	"likely benign"	""
"0000618167"	"0"	"90"	"20"	"43249762"	"43249762"	"subst"	"2.03028E-5"	"02327"	"ADA_000027"	"g.43249762G>A"	""	""	""	"ADA(NM_000022.2):c.872C>T (p.S291L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44621121G>A"	""	"pathogenic"	""
"0000624160"	"0"	"30"	"20"	"43249649"	"43249649"	"subst"	"1.21819E-5"	"02326"	"ADA_000047"	"g.43249649A>C"	""	""	""	"ADA(NM_000022.2):c.975+10T>G, ADA(NM_000022.4):c.975+10T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44621008A>C"	""	"likely benign"	""
"0000624161"	"0"	"30"	"20"	"43280213"	"43280213"	"subst"	"0"	"02326"	"ADA_000049"	"g.43280213C>T"	""	""	""	"ADA(NM_000022.2):c.33+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44651572C>T"	""	"likely benign"	""
"0000650787"	"1"	"90"	"20"	"43249744"	"43249744"	"subst"	"2.43635E-5"	"03575"	"ADA_000029"	"g.43249744G>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121908718}"	"Germline"	""	"rs121908718"	"0"	""	""	"g.44621103G>T"	""	"pathogenic"	""
"0000650788"	"1"	"50"	"20"	"43251493"	"43251493"	"subst"	"4.06055E-5"	"03575"	"ADA_000050"	"g.43251493G>A"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs201944717}"	"Germline"	""	"rs201944717"	"0"	""	""	"g.44622852G>A"	""	"VUS"	""
"0000650789"	"1"	"70"	"20"	"43254222"	"43254222"	"subst"	"0"	"03575"	"ADA_000015"	"g.43254222G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121908735}"	"Germline"	""	"rs121908735"	"0"	""	""	"g.44625581G>A"	""	"likely pathogenic"	""
"0000650790"	"1"	"50"	"20"	"43254234"	"43254234"	"subst"	"0.000171577"	"03575"	"ADA_000014"	"g.43254234G>T"	"8/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"8 heterozygous, no homozygous; {DB:CLININrs121908728}"	"Germline"	""	"rs121908728"	"0"	""	""	"g.44625593G>T"	""	"VUS"	""
"0000658768"	"0"	"30"	"20"	"43248495"	"43248495"	"subst"	"0.000109931"	"01943"	"ADA_000051"	"g.43248495G>A"	""	""	""	"ADA(NM_000022.2):c.1079-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44619854G>A"	""	"likely benign"	""
"0000658769"	"0"	"30"	"20"	"43248495"	"43248495"	"subst"	"0.000109931"	"02326"	"ADA_000051"	"g.43248495G>A"	""	""	""	"ADA(NM_000022.2):c.1079-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44619854G>A"	""	"likely benign"	""
"0000658770"	"0"	"90"	"20"	"43249032"	"43249032"	"subst"	"4.87294E-5"	"01943"	"ADA_000028"	"g.43249032G>A"	""	""	""	"ADA(NM_000022.2):c.986C>T (p.A329V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44620391G>A"	""	"pathogenic"	""
"0000681619"	"0"	"30"	"20"	"43251681"	"43251681"	"subst"	"0.000129978"	"02326"	"ADA_000052"	"g.43251681G>A"	""	""	""	"ADA(NM_000022.2):c.645C>T (p.A215=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692987"	"0"	"30"	"20"	"43264859"	"43264859"	"subst"	"0.000668629"	"02326"	"ADA_000045"	"g.43264859T>C"	""	""	""	"ADA(NM_000022.2):c.95+9A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727695"	"0"	"30"	"20"	"43257761"	"43257761"	"subst"	"4.06124E-6"	"01943"	"ADA_000053"	"g.43257761C>T"	""	""	""	"ADA(NM_000022.2):c.145G>A (p.V49I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809254"	"0"	"90"	"20"	"43251546"	"43251546"	"subst"	"4.06062E-6"	"02329"	"ADA_000054"	"g.43251546C>T"	""	""	""	"ADA(NM_000022.4):c.704G>A (p.R235Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000855851"	"0"	"30"	"20"	"43254285"	"43254285"	"subst"	"0"	"01943"	"ADA_000055"	"g.43254285G>C"	""	""	""	"ADA(NM_000022.2):c.403C>G (p.Q135E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866504"	"0"	"90"	"20"	"43255157"	"43255157"	"subst"	"8.12117E-6"	"02327"	"ADA_000005"	"g.43255157C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000866505"	"0"	"90"	"20"	"43255242"	"43255242"	"subst"	"0"	"02327"	"ADA_000032"	"g.43255242T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000866506"	"0"	"90"	"20"	"43280215"	"43280215"	"subst"	"0"	"02327"	"ADA_000056"	"g.43280215C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000866507"	"0"	"90"	"20"	"43280242"	"43280242"	"subst"	"0"	"01943"	"ADA_000057"	"g.43280242G>A"	""	""	""	"ADA(NM_000022.2):c.7C>T (p.Q3*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000873898"	"0"	"10"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00000"	"ADA_000030"	"g.43255220T>C"	""	"{PMID:Bell 2011:21228398}"	""	"ADA 20:42688634 (hg18) het CM860001 14.4%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.44626579T>C"	""	"benign"	""
"0000873910"	"0"	"10"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00000"	"ADA_000030"	"g.43255220T>C"	""	"{PMID:Bell 2011:21228398}"	""	"ADA 20:42688634 (hg18) het CM860001 14.4%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.44626579T>C"	""	"benign"	""
"0000873924"	"0"	"10"	"20"	"43255220"	"43255220"	"subst"	"0.0576151"	"00000"	"ADA_000030"	"g.43255220T>C"	""	"{PMID:Bell 2011:21228398}"	""	"ADA 20:42688634 (hg18) het CM860001 14.4%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.44626579T>C"	""	"benign"	""
"0000895338"	"0"	"30"	"20"	"43251240"	"43251240"	"subst"	"0.0039521"	"02326"	"ADA_000058"	"g.43251240A>G"	""	""	""	"ADA(NM_000022.2):c.834T>C (p.H278=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895339"	"0"	"30"	"20"	"43251252"	"43251252"	"subst"	"0.000158421"	"02326"	"ADA_000059"	"g.43251252C>T"	""	""	""	"ADA(NM_000022.2):c.822G>A (p.P274=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895340"	"0"	"50"	"20"	"43254237"	"43254237"	"subst"	"0"	"02327"	"ADA_000060"	"g.43254237T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000915376"	"0"	"30"	"20"	"43248975"	"43248975"	"subst"	"0"	"02326"	"ADA_000034"	"g.43248975T>G"	""	""	""	"ADA(NM_000022.2):c.1043A>C (p.Y348S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983806"	"0"	"30"	"20"	"43249649"	"43249649"	"subst"	"1.21819E-5"	"01804"	"ADA_000047"	"g.43249649A>C"	""	""	""	"ADA(NM_000022.2):c.975+10T>G, ADA(NM_000022.4):c.975+10T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983807"	"0"	"50"	"20"	"43254306"	"43254306"	"subst"	"0"	"01804"	"ADA_000061"	"g.43254306C>T"	""	""	""	"ADA(NM_000022.4):c.382G>A (p.(Glu128Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000983808"	"0"	"50"	"20"	"43264902"	"43264902"	"subst"	"1.67205E-5"	"01804"	"ADA_000062"	"g.43264902A>C"	""	""	""	"ADA(NM_000022.4):c.61T>G (p.(Ser21Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001027320"	"0"	"70"	"20"	"43249744"	"43249744"	"subst"	"2.43635E-5"	"02327"	"ADA_000029"	"g.43249744G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001027321"	"0"	"70"	"20"	"43254242"	"43254242"	"subst"	"0"	"02327"	"ADA_000013"	"g.43254242C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001027322"	"0"	"90"	"20"	"43255139"	"43255139"	"subst"	"6.49699E-5"	"02327"	"ADA_000007"	"g.43255139A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001043354"	"0"	"50"	"20"	"43252941"	"43252941"	"subst"	"4.06101E-5"	"01804"	"ADA_000063"	"g.43252941T>C"	""	""	""	"ADA(NM_000022.4):c.508A>G (p.(Lys170Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001043355"	"0"	"50"	"20"	"43254246"	"43254246"	"subst"	"0"	"01804"	"ADA_000064"	"g.43254246C>A"	""	""	""	"ADA(NM_000022.4):c.442G>T (p.(Ala148Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001046780"	"0"	"90"	"20"	"43251514"	"43251514"	"subst"	"0"	"02325"	"ADA_000035"	"g.43251514G>A"	""	""	""	"ADA(NM_000022.2):c.736C>T (p.Q246*), ADA(NM_000022.4):c.736C>T (p.Q246*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001056901"	"0"	"50"	"20"	"43257727"	"43257727"	"subst"	"1.21827E-5"	"01804"	"ADA_000065"	"g.43257727T>C"	""	""	""	"ADA(NM_000022.4):c.179A>G (p.(Asp60Gly))"	"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 ADA
## Count = 107
"{{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}}"
"0000000872"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000874"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000876"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000877"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000879"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000880"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000881"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000882"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000883"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000884"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000885"	"00000165"	"50"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000000886"	"00000165"	"50"	"911"	"0"	"911"	"0"	"c.911T>G"	"r.(?)"	"p.(Leu304Arg)"	""
"0000000887"	"00000165"	"50"	"986"	"0"	"986"	"0"	"c.986C>T"	"r.(?)"	"p.(Ala329Val)"	""
"0000000888"	"00000165"	"50"	"986"	"0"	"986"	"0"	"c.986C>T"	"r.(?)"	"p.(Ala329Val)"	""
"0000000889"	"00000165"	"50"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211His)"	""
"0000000890"	"00000165"	"50"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Trp)"	""
"0000000891"	"00000165"	"50"	"320"	"0"	"320"	"0"	"c.320T>C"	"r.(?)"	"p.(Leu107Pro)"	""
"0000000892"	"00000165"	"50"	"821"	"0"	"821"	"0"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	""
"0000000893"	"00000165"	"50"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Arg156Cys)"	""
"0000000894"	"00000165"	"90"	"219"	"-2"	"219"	"-2"	"c.219-2A>G"	"r.219_362del"	"p.Gly74_Glu121del"	"3i"
"0000244112"	"00000165"	"90"	"478"	"2"	"478"	"2"	"c.478+2T>C"	"r.spl?"	"p.?"	"5i"
"0000258923"	"00000165"	"10"	"36"	"0"	"36"	"0"	"c.36="	"r.(=)"	"p.(Val12=)"	""
"0000260591"	"00000165"	"30"	"162"	"0"	"162"	"0"	"c.162G>A"	"r.(?)"	"p.(Lys54=)"	""
"0000260592"	"00000165"	"10"	"22"	"0"	"22"	"0"	"c.22G>A"	"r.(?)"	"p.(Asp8Asn)"	""
"0000260593"	"00000165"	"30"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Arg142Gln)"	""
"0000260594"	"00000165"	"30"	"606"	"10"	"606"	"10"	"c.606+10G>A"	"r.(=)"	"p.(=)"	""
"0000260595"	"00000165"	"90"	"736"	"0"	"736"	"0"	"c.736C>T"	"r.(?)"	"p.(Gln246Ter)"	""
"0000261941"	"00000165"	"30"	"1043"	"0"	"1043"	"0"	"c.1043A>C"	"r.(?)"	"p.(Tyr348Ser)"	""
"0000261942"	"00000165"	"30"	"162"	"0"	"162"	"0"	"c.162G>A"	"r.(?)"	"p.(Lys54=)"	""
"0000261943"	"00000165"	"30"	"606"	"10"	"606"	"10"	"c.606+10G>A"	"r.(=)"	"p.(=)"	""
"0000343350"	"00000165"	"90"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Trp)"	""
"0000434892"	"00000165"	"95"	"43"	"0"	"43"	"0"	"c.43C>G"	"r.(?)"	"p.(His15Asp)"	"2"
"0000434893"	"00000165"	"95"	"58"	"0"	"58"	"0"	"c.58G>A"	"r.(?)"	"p.(Gly20Arg)"	"2"
"0000434894"	"00000165"	"95"	"220"	"0"	"220"	"0"	"c.220G>T"	"r.(?)"	"p.(Gly74Cys)"	"4"
"0000434895"	"00000165"	"95"	"226"	"0"	"226"	"0"	"c.226C>T"	"r.(?)"	"p.(Arg76Trp)"	"4"
"0000434896"	"00000165"	"95"	"248"	"0"	"248"	"0"	"c.248C>A"	"r.(?)"	"p.(Ala83Asp)"	"4"
"0000434897"	"00000165"	"95"	"301"	"0"	"301"	"0"	"c.301C>T"	"r.(?)"	"p.(Arg101Trp)"	"4"
"0000434898"	"00000165"	"95"	"302"	"0"	"302"	"0"	"c.302G>A"	"r.(?)"	"p.(Arg101Gln)"	"4"
"0000434899"	"00000165"	"95"	"302"	"0"	"302"	"0"	"c.302G>T"	"r.(?)"	"p.(Arg101Leu)"	"4"
"0000434900"	"00000165"	"95"	"320"	"0"	"320"	"0"	"c.320T>C"	"r.(?)"	"p.(Leu107Pro)"	"4"
"0000434901"	"00000165"	"95"	"385"	"0"	"385"	"0"	"c.385G>A"	"r.(?)"	"p.(Val129Met)"	"5"
"0000434902"	"00000165"	"95"	"419"	"0"	"419"	"0"	"c.419G>A"	"r.(?)"	"p.(Gly140Glu)"	"5"
"0000434903"	"00000165"	"95"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Arg142Gln)"	"5"
"0000434904"	"00000165"	"95"	"445"	"0"	"445"	"0"	"c.445C>T"	"r.(?)"	"p.(Arg149Trp)"	"5"
"0000434905"	"00000165"	"95"	"446"	"0"	"446"	"0"	"c.446G>A"	"r.(?)"	"p.(Arg149Gln)"	"5"
"0000434906"	"00000165"	"95"	"454"	"0"	"454"	"0"	"c.454C>A"	"r.(?)"	"p.(Leu152Met)"	"5"
"0000434907"	"00000165"	"95"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Arg156Cys)"	"5"
"0000434908"	"00000165"	"95"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Arg156His)"	"5"
"0000434909"	"00000165"	"95"	"529"	"0"	"529"	"0"	"c.529G>A"	"r.(?)"	"p.(Val177Met)"	"6"
"0000434910"	"00000165"	"95"	"536"	"0"	"536"	"0"	"c.536C>A"	"r.(?)"	"p.(Ala179Asp)"	"6"
"0000434911"	"00000165"	"95"	"596"	"0"	"596"	"0"	"c.596A>C"	"r.(?)"	"p.(Gln199Pro)"	"6"
"0000434912"	"00000165"	"95"	"631"	"0"	"631"	"0"	"c.631C>T"	"r.(?)"	"p.(Arg211Cys)"	"7"
"0000434913"	"00000165"	"95"	"632"	"0"	"632"	"0"	"c.632G>A"	"r.(?)"	"p.(Arg211His)"	"7"
"0000434914"	"00000165"	"95"	"643"	"0"	"643"	"0"	"c.643G>A"	"r.(?)"	"p.(Ala215Thr)"	"7"
"0000434915"	"00000165"	"95"	"646"	"0"	"646"	"0"	"c.646G>A"	"r.(?)"	"p.(Gly216Arg)"	"7"
"0000434916"	"00000165"	"95"	"698"	"0"	"698"	"0"	"c.698C>T"	"r.(?)"	"p.(Thr233Ile)"	"8"
"0000434917"	"00000165"	"95"	"821"	"0"	"821"	"0"	"c.821C>T"	"r.(?)"	"p.(Pro274Leu)"	"9"
"0000434918"	"00000165"	"95"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ser291Leu)"	"10"
"0000434919"	"00000165"	"95"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ser291Leu)"	"10"
"0000434920"	"00000165"	"95"	"890"	"0"	"890"	"0"	"c.890C>A"	"r.(?)"	"p.(Pro297Gln)"	"10"
"0000434921"	"00000165"	"95"	"986"	"0"	"986"	"0"	"c.986C>T"	"r.(?)"	"p.(Ala329Val)"	"11"
"0000569766"	"00000165"	"30"	"2629"	"0"	"2629"	"0"	"c.*1537T>G"	"r.(=)"	"p.(=)"	""
"0000569767"	"00000165"	"90"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ser291Leu)"	""
"0000569768"	"00000165"	"30"	"479"	"-9"	"479"	"-9"	"c.479-9C>T"	"r.(=)"	"p.(=)"	""
"0000569769"	"00000165"	"30"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Arg142Gln)"	""
"0000569770"	"00000165"	"90"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Arg142Ter)"	""
"0000569771"	"00000165"	"30"	"106"	"0"	"106"	"0"	"c.106A>C"	"r.(?)"	"p.(Ile36Leu)"	""
"0000569772"	"00000165"	"10"	"95"	"9"	"95"	"9"	"c.95+9A>G"	"r.(=)"	"p.(=)"	""
"0000569773"	"00000165"	"30"	"21"	"0"	"21"	"0"	"c.21C>T"	"r.(?)"	"p.(Phe7=)"	""
"0000618165"	"00000165"	"90"	"986"	"0"	"986"	"0"	"c.986C>T"	"r.(?)"	"p.(Ala329Val)"	""
"0000618166"	"00000165"	"30"	"941"	"0"	"941"	"0"	"c.941A>G"	"r.(?)"	"p.(Asp314Gly)"	""
"0000618167"	"00000165"	"90"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ser291Leu)"	""
"0000624160"	"00000165"	"30"	"975"	"10"	"975"	"10"	"c.975+10T>G"	"r.(=)"	"p.(=)"	""
"0000624161"	"00000165"	"30"	"33"	"3"	"33"	"3"	"c.33+3G>A"	"r.spl?"	"p.?"	""
"0000650787"	"00000165"	"90"	"890"	"0"	"890"	"0"	"c.890C>A"	"r.(?)"	"p.(Pro297Gln)"	""
"0000650788"	"00000165"	"50"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253Trp)"	""
"0000650789"	"00000165"	"70"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Arg156Cys)"	""
"0000650790"	"00000165"	"50"	"454"	"0"	"454"	"0"	"c.454C>A"	"r.(?)"	"p.(Leu152Met)"	""
"0000658768"	"00000165"	"30"	"1079"	"-7"	"1079"	"-7"	"c.1079-7C>T"	"r.(=)"	"p.(=)"	""
"0000658769"	"00000165"	"30"	"1079"	"-7"	"1079"	"-7"	"c.1079-7C>T"	"r.(=)"	"p.(=)"	""
"0000658770"	"00000165"	"90"	"986"	"0"	"986"	"0"	"c.986C>T"	"r.(?)"	"p.(Ala329Val)"	""
"0000681619"	"00000165"	"30"	"645"	"0"	"645"	"0"	"c.645C>T"	"r.(?)"	"p.(Ala215=)"	""
"0000692987"	"00000165"	"30"	"95"	"9"	"95"	"9"	"c.95+9A>G"	"r.(=)"	"p.(=)"	""
"0000727695"	"00000165"	"30"	"145"	"0"	"145"	"0"	"c.145G>A"	"r.(?)"	"p.(Val49Ile)"	""
"0000809254"	"00000165"	"90"	"704"	"0"	"704"	"0"	"c.704G>A"	"r.(?)"	"p.(Arg235Gln)"	""
"0000855851"	"00000165"	"30"	"403"	"0"	"403"	"0"	"c.403C>G"	"r.(?)"	"p.(Gln135Glu)"	""
"0000866504"	"00000165"	"90"	"302"	"0"	"302"	"0"	"c.302G>A"	"r.(?)"	"p.(Arg101Gln)"	""
"0000866505"	"00000165"	"90"	"219"	"-2"	"219"	"-2"	"c.219-2A>G"	"r.spl?"	"p.?"	""
"0000866506"	"00000165"	"90"	"33"	"1"	"33"	"1"	"c.33+1G>C"	"r.spl?"	"p.?"	""
"0000866507"	"00000165"	"90"	"7"	"0"	"7"	"0"	"c.7C>T"	"r.(?)"	"p.(Gln3*)"	""
"0000873898"	"00000165"	"10"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000873910"	"00000165"	"10"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000873924"	"00000165"	"10"	"239"	"0"	"239"	"0"	"c.239A>G"	"r.(?)"	"p.(Lys80Arg)"	""
"0000895338"	"00000165"	"30"	"834"	"0"	"834"	"0"	"c.834T>C"	"r.(?)"	"p.(His278=)"	""
"0000895339"	"00000165"	"30"	"822"	"0"	"822"	"0"	"c.822G>A"	"r.(?)"	"p.(Pro274=)"	""
"0000895340"	"00000165"	"50"	"451"	"0"	"451"	"0"	"c.451A>G"	"r.(?)"	"p.(Ile151Val)"	""
"0000915376"	"00000165"	"30"	"1043"	"0"	"1043"	"0"	"c.1043A>C"	"r.(?)"	"p.(Tyr348Ser)"	""
"0000983806"	"00000165"	"30"	"975"	"10"	"975"	"10"	"c.975+10T>G"	"r.(=)"	"p.(=)"	""
"0000983807"	"00000165"	"50"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Glu128Lys)"	""
"0000983808"	"00000165"	"50"	"61"	"0"	"61"	"0"	"c.61T>G"	"r.(?)"	"p.(Ser21Ala)"	""
"0001027320"	"00000165"	"70"	"890"	"0"	"890"	"0"	"c.890C>A"	"r.(?)"	"p.(Pro297Gln)"	""
"0001027321"	"00000165"	"70"	"446"	"0"	"446"	"0"	"c.446G>A"	"r.(?)"	"p.(Arg149Gln)"	""
"0001027322"	"00000165"	"90"	"320"	"0"	"320"	"0"	"c.320T>C"	"r.(?)"	"p.(Leu107Pro)"	""
"0001043354"	"00000165"	"50"	"508"	"0"	"508"	"0"	"c.508A>G"	"r.(?)"	"p.(Lys170Glu)"	""
"0001043355"	"00000165"	"50"	"442"	"0"	"442"	"0"	"c.442G>T"	"r.(?)"	"p.(Ala148Ser)"	""
"0001046780"	"00000165"	"90"	"736"	"0"	"736"	"0"	"c.736C>T"	"r.(?)"	"p.(Gln246Ter)"	""
"0001056901"	"00000165"	"50"	"179"	"0"	"179"	"0"	"c.179A>G"	"r.(?)"	"p.(Asp60Gly)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 58
"{{screeningid}}"	"{{variantid}}"
"0000000008"	"0000000884"
"0000000011"	"0000000879"
"0000000012"	"0000000890"
"0000000012"	"0000000892"
"0000000016"	"0000000880"
"0000000030"	"0000000876"
"0000000031"	"0000000874"
"0000000035"	"0000000888"
"0000000035"	"0000000894"
"0000000050"	"0000000877"
"0000000050"	"0000000886"
"0000000050"	"0000000893"
"0000000056"	"0000000883"
"0000000061"	"0000000882"
"0000000063"	"0000000891"
"0000000068"	"0000000887"
"0000000068"	"0000000889"
"0000000084"	"0000000881"
"0000000085"	"0000000872"
"0000000107"	"0000000885"
"0000150965"	"0000244112"
"0000205506"	"0000434892"
"0000205507"	"0000434893"
"0000205508"	"0000434894"
"0000205509"	"0000434895"
"0000205510"	"0000434896"
"0000205511"	"0000434897"
"0000205512"	"0000434898"
"0000205513"	"0000434899"
"0000205514"	"0000434900"
"0000205515"	"0000434901"
"0000205516"	"0000434902"
"0000205517"	"0000434903"
"0000205518"	"0000434904"
"0000205519"	"0000434905"
"0000205520"	"0000434906"
"0000205521"	"0000434907"
"0000205522"	"0000434908"
"0000205523"	"0000434909"
"0000205524"	"0000434910"
"0000205525"	"0000434911"
"0000205526"	"0000434912"
"0000205527"	"0000434913"
"0000205528"	"0000434914"
"0000205529"	"0000434915"
"0000205530"	"0000434916"
"0000205531"	"0000434917"
"0000205532"	"0000434918"
"0000205533"	"0000434919"
"0000205534"	"0000434920"
"0000205535"	"0000434921"
"0000294098"	"0000650787"
"0000294099"	"0000650788"
"0000294100"	"0000650789"
"0000294101"	"0000650790"
"0000415985"	"0000873898"
"0000415986"	"0000873910"
"0000415987"	"0000873924"