### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC26A2)
# 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}}"
"SLC26A2"	"solute carrier family 26 (sulfate transporter), member 2"	"5"	"q31-q34"	"unknown"	"LRG_684"	"UD_132118833318"	""	"https://www.LOVD.nl/SLC26A2"	"Finnish Disease Database (FinDis) <http://www.findis.org/>"	"1"	"10994"	"1836"	"606718"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of <b>Juha Muilu</b> acting as curator until 2015."	""	"g"	"https://databases.lovd.nl/shared/refseq/SLC26A2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2019-07-21 20:41:08"	"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}}"
"00000137"	"SLC26A2"	"solute carrier family 26 (sulfate transporter), member 2"	"001"	"NM_000112.3"	""	"NP_000103.2"	""	""	""	"-268"	"7807"	"2220"	"149340300"	"149366963"	"00002"	"2012-05-11 13:12:13"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 13
"{{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"	""	""
"00072"	"DTD"	"dysplasia, diastrophic (DTD)"	"AR"	"222600"	""	""	""	"00015"	"2012-11-09 14:31:02"	"00006"	"2021-12-10 21:51:32"
"00105"	"ACG1B"	"achondrogenesis, type IB (ACG-1B)"	"AR"	"600972"	""	""	""	"00015"	"2013-01-22 07:36:14"	"00006"	"2021-12-10 21:51:32"
"00106"	"AO2"	"atelosteogenesis, type II (AO-2, De la Chapelle dysplasia)"	"AR"	"256050"	""	""	""	"00015"	"2013-01-22 07:38:15"	"00006"	"2021-12-10 21:51:32"
"00107"	"EDM4"	"dysplasia, epiphyseal, multiple, type 4 (EDM-4)"	"AR"	"226900"	""	""	""	"00015"	"2013-01-22 07:39:24"	"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"
"01617"	"ABL"	"abetalipoproteinaemia (ABL)"	"AR"	"200100"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01906"	"MADA"	"dysplasia, mandibuloacral, with type A lipodystrophy (MADA)"	"AR"	"248370"	""	""	""	"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"
"05427"	"ADPKD"	"kidney, polycystic, disease, autosomal dominant (ADPKD)"	""	""	""	""	""	"00006"	"2018-05-08 22:37:08"	""	""
"05479"	"ACG"	"achondrogenesis (ACG)"	""	""	""	""	""	"00006"	"2018-10-22 13:52:53"	"00006"	"2018-10-22 13:53:57"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}"	"{{diseaseid}}"
"SLC26A2"	"00072"
"SLC26A2"	"00105"
"SLC26A2"	"00106"
"SLC26A2"	"00107"
"SLC26A2"	"05479"


## Individuals ## Do not remove or alter this header ##
## Count = 39
"{{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}}"
"00000004"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000005"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000006"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000012"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000020"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000022"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000023"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000025"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000026"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000027"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000028"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000030"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000034"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000037"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000039"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000042"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000043"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000049"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000054"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000056"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000058"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000062"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000067"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000070"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000076"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000077"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000078"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000086"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000087"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000099"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000107"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00080868"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00081682"	""	""	""	"1"	""	"01709"	""	""	"M"	"no"	""	""	"0"	""	""	""	""
"00293795"	""	""	""	"44"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293796"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00334476"	""	""	""	"1"	""	"01709"	""	""	""	"no"	"Brazil"	""	"0"	""	""	""	""
"00359456"	""	""	""	"1"	""	"01709"	""	""	""	""	"(Brazil)"	""	"0"	""	""	""	""
"00414704"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01210"
"00414705"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01899"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 16
"{{individualid}}"	"{{diseaseid}}"
"00000012"	"00138"
"00000012"	"05378"
"00000022"	"05378"
"00000023"	"05378"
"00000025"	"05378"
"00000030"	"00000"
"00000039"	"05427"
"00000054"	"01617"
"00080868"	"00105"
"00081682"	"00106"
"00293795"	"00198"
"00293796"	"00198"
"00334476"	"01906"
"00359456"	"00198"
"00414704"	"04214"
"00414705"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00072, 00105, 00106, 00107, 00138, 00198, 01617, 01906, 04214, 05378, 05427, 05479
## Count = 8
"{{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}}"
"0000015274"	"00187"	"00000004"	"00124"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060437"	"00105"	"00080868"	"01758"	"Familial, autosomal recessive"	""	"Achondrogenesis Ib (OMIM:600972)"	""	""	""	""	""	""	""	""	""	""	""
"0000061370"	"00106"	"00081682"	"01709"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000154673"	"01617"	"00000054"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	"ABL"	"abetalipoproteinaemia"	""
"0000254698"	"00198"	"00359456"	"01709"	"Unknown"	""	"Diagnosis: rMED/DBQD"	""	""	""	""	""	""	""	""	""	""	""
"0000254798"	"01906"	"00334476"	"01709"	"Unknown"	""	"diagnosis: rMED/DBQD"	""	""	""	""	""	""	""	""	""	""	""
"0000306499"	"04214"	"00414704"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"galactosemia"	""	""
"0000306500"	"04214"	"00414705"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	"Lesch-Nyhan syndrome"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 39
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000004"	"00000004"	"1"	"00004"	""	"2012-05-11 13:18:36"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000005"	"00000005"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000006"	"00000006"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000012"	"00000012"	"1"	"00004"	""	"2012-05-11 13:18:38"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000020"	"00000020"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000022"	"00000022"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000023"	"00000023"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000025"	"00000025"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000026"	"00000026"	"1"	"00004"	""	"2012-05-11 13:18:42"	"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"	""	""
"0000000028"	"00000028"	"1"	"00004"	""	"2012-05-11 13:18:42"	"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"	""	""
"0000000034"	"00000034"	"1"	"00004"	""	"2012-05-11 13:18:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000037"	"00000037"	"1"	"00004"	""	"2012-05-11 13:18:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000039"	"00000039"	"1"	"00004"	""	"2012-05-11 13:18:46"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000042"	"00000042"	"1"	"00004"	""	"2012-05-11 13:18:46"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000043"	"00000043"	"1"	"00004"	""	"2012-05-11 13:18:47"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000049"	"00000049"	"1"	"00004"	""	"2012-05-11 13:18:49"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000054"	"00000054"	"1"	"00004"	""	"2012-05-11 13:18:51"	"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"	""	""
"0000000058"	"00000058"	"1"	"00004"	""	"2012-05-11 13:18:53"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000062"	"00000062"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000067"	"00000067"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000070"	"00000070"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000076"	"00000076"	"1"	"00004"	""	"2012-05-11 13:19:02"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000077"	"00000077"	"1"	"00004"	""	"2012-05-11 13:19:03"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000078"	"00000078"	"1"	"00004"	""	"2012-05-11 13:19:04"	"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"	""	""
"0000000087"	"00000087"	"1"	"00004"	""	"2012-05-11 13:19:14"	"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"	""	""
"0000000107"	"00000107"	"1"	"00004"	""	"2012-05-11 13:19:58"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000080980"	"00080868"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000081812"	"00081682"	"1"	"01709"	"01709"	"2016-10-18 19:50:23"	""	""	"PCR"	"DNA"	"Blood"	""
"0000294963"	"00293795"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294964"	"00293796"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000335705"	"00334476"	"1"	"01709"	"01709"	"2021-03-01 00:25:36"	""	""	"SEQ-NG"	"DNA"	""	""
"0000360686"	"00359456"	"1"	"01709"	"00006"	"2021-03-22 12:20:24"	""	""	"SEQ"	"DNA"	""	""
"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"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 402
"{{screeningid}}"	"{{geneid}}"
"0000000004"	"ACADM"
"0000000004"	"AGL"
"0000000004"	"DPYD"
"0000000004"	"ETFB"
"0000000004"	"GAA"
"0000000004"	"HESX1"
"0000000004"	"NHLRC1"
"0000000004"	"NPHS1"
"0000000004"	"SBDS"
"0000000004"	"SLC26A2"
"0000000004"	"SMPD1"
"0000000005"	"ACADM"
"0000000005"	"ATP7B"
"0000000005"	"CFTR"
"0000000005"	"ETFB"
"0000000005"	"GLB1"
"0000000005"	"MEFV"
"0000000005"	"NHLRC1"
"0000000005"	"PKHD1"
"0000000005"	"RAPSN"
"0000000005"	"SERPINA1"
"0000000005"	"SLC26A2"
"0000000005"	"USH2A"
"0000000006"	"ACADM"
"0000000006"	"APTX"
"0000000006"	"ATP7B"
"0000000006"	"GALC"
"0000000006"	"MTHFR"
"0000000006"	"SERPINA1"
"0000000006"	"SGSH"
"0000000006"	"SLC26A2"
"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"
"0000000020"	"ALPL"
"0000000020"	"ATP7B"
"0000000020"	"ETFB"
"0000000020"	"GLB1"
"0000000020"	"IGHMBP2"
"0000000020"	"MKS1"
"0000000020"	"MYO5A"
"0000000020"	"NHLRC1"
"0000000020"	"NPHS1"
"0000000020"	"SERPINA1"
"0000000020"	"SLC26A2"
"0000000020"	"SMPD1"
"0000000022"	"ALPL"
"0000000022"	"ATP7B"
"0000000022"	"CBS"
"0000000022"	"DPYD"
"0000000022"	"ETFB"
"0000000022"	"GALC"
"0000000022"	"GLB1"
"0000000022"	"NPHS1"
"0000000022"	"PAH"
"0000000022"	"SERPINA1"
"0000000022"	"SLC26A2"
"0000000023"	"ALPL"
"0000000023"	"ATP7B"
"0000000023"	"CBS"
"0000000023"	"CEP290"
"0000000023"	"COL17A1"
"0000000023"	"CYP21A2"
"0000000023"	"DPYD"
"0000000023"	"GBA"
"0000000023"	"GLB1"
"0000000023"	"NHLRC1"
"0000000023"	"SERPINA1"
"0000000023"	"SLC26A2"
"0000000023"	"SLC3A1"
"0000000023"	"SMPD1"
"0000000025"	"AMPD1"
"0000000025"	"ATP7B"
"0000000025"	"ATR"
"0000000025"	"CBS"
"0000000025"	"CFTR"
"0000000025"	"CYP21A2"
"0000000025"	"ETFB"
"0000000025"	"GLB1"
"0000000025"	"HBB"
"0000000025"	"IGHMBP2"
"0000000025"	"NPHS1"
"0000000025"	"PAH"
"0000000025"	"SERPINA1"
"0000000025"	"SLC26A2"
"0000000026"	"AMPD1"
"0000000026"	"ATP7B"
"0000000026"	"CBS"
"0000000026"	"CPT1A"
"0000000026"	"ETFB"
"0000000026"	"GLB1"
"0000000026"	"GRHPR"
"0000000026"	"HEXB"
"0000000026"	"INVS"
"0000000026"	"MECP2"
"0000000026"	"MEFV"
"0000000026"	"NHLRC1"
"0000000026"	"NPHS1"
"0000000026"	"NTRK1"
"0000000026"	"SERPINA1"
"0000000026"	"SLC26A2"
"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"
"0000000028"	"ALG1"
"0000000028"	"AMPD1"
"0000000028"	"ATP7B"
"0000000028"	"BTD"
"0000000028"	"CBS"
"0000000028"	"CLN3"
"0000000028"	"CYP21A2"
"0000000028"	"FGG"
"0000000028"	"GALC"
"0000000028"	"GLB1"
"0000000028"	"JAK3"
"0000000028"	"NPHS1"
"0000000028"	"RAG2"
"0000000028"	"RPGRIP1L"
"0000000028"	"SERPINA1"
"0000000028"	"SLC26A2"
"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"
"0000000034"	"ATP7B"
"0000000034"	"CBS"
"0000000034"	"CYP21A2"
"0000000034"	"DPYD"
"0000000034"	"ETFB"
"0000000034"	"GLB1"
"0000000034"	"GNPTAB"
"0000000034"	"IGHMBP2"
"0000000034"	"NHLRC1"
"0000000034"	"SERPINA1"
"0000000034"	"SLC26A2"
"0000000034"	"SMPD1"
"0000000037"	"ATM"
"0000000037"	"ATP7B"
"0000000037"	"DPYD"
"0000000037"	"ETFB"
"0000000037"	"HEXB"
"0000000037"	"NHLRC1"
"0000000037"	"NPHS1"
"0000000037"	"SBDS"
"0000000037"	"SLC26A2"
"0000000037"	"SLC3A1"
"0000000037"	"SMN1"
"0000000037"	"SMPD1"
"0000000039"	"AHI1"
"0000000039"	"ATP7B"
"0000000039"	"DPYD"
"0000000039"	"ETFB"
"0000000039"	"GAA"
"0000000039"	"GLB1"
"0000000039"	"LAMA2"
"0000000039"	"MTHFR"
"0000000039"	"NPHP4"
"0000000039"	"NPHS1"
"0000000039"	"P3H1"
"0000000039"	"SBDS"
"0000000039"	"SLC26A2"
"0000000042"	"ATP7B"
"0000000042"	"DPYD"
"0000000042"	"ETFB"
"0000000042"	"GLB1"
"0000000042"	"IGHMBP2"
"0000000042"	"JAK3"
"0000000042"	"NPHP4"
"0000000042"	"NPHS1"
"0000000042"	"POLG"
"0000000042"	"QARS"
"0000000042"	"SERPINA1"
"0000000042"	"SLC26A2"
"0000000042"	"SMPD1"
"0000000043"	"ATP7B"
"0000000043"	"DPYD"
"0000000043"	"IGHMBP2"
"0000000043"	"MYO5A"
"0000000043"	"NHLRC1"
"0000000043"	"NPHS1"
"0000000043"	"PCK1"
"0000000043"	"SERPINA1"
"0000000043"	"SLC26A2"
"0000000049"	"ATP7B"
"0000000049"	"CYP21A2"
"0000000049"	"DPYD"
"0000000049"	"ETFB"
"0000000049"	"GALC"
"0000000049"	"GLB1"
"0000000049"	"IGHMBP2"
"0000000049"	"LAMA2"
"0000000049"	"MPL"
"0000000049"	"MYO5A"
"0000000049"	"NPHP4"
"0000000049"	"SERPINA1"
"0000000049"	"SGSH"
"0000000049"	"SLC26A2"
"0000000054"	"ATM"
"0000000054"	"ATP7B"
"0000000054"	"DPYD"
"0000000054"	"ETFB"
"0000000054"	"GALC"
"0000000054"	"GLB1"
"0000000054"	"GNPTAB"
"0000000054"	"LAMA2"
"0000000054"	"LAMA3"
"0000000054"	"NHLRC1"
"0000000054"	"NPHS1"
"0000000054"	"SERPINA1"
"0000000054"	"SLC26A2"
"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"
"0000000058"	"ALDH5A1"
"0000000058"	"ATP7B"
"0000000058"	"CFTR"
"0000000058"	"CYP21A2"
"0000000058"	"GBA"
"0000000058"	"HEXB"
"0000000058"	"IGHMBP2"
"0000000058"	"MEFV"
"0000000058"	"MYO5A"
"0000000058"	"NHLRC1"
"0000000058"	"NPHS1"
"0000000058"	"PKHD1"
"0000000058"	"PMM2"
"0000000058"	"SERPINA1"
"0000000058"	"SLC26A2"
"0000000058"	"SMPD1"
"0000000062"	"AGXT"
"0000000062"	"ATP7B"
"0000000062"	"CLN3"
"0000000062"	"CYP21A2"
"0000000062"	"ETFB"
"0000000062"	"GALC"
"0000000062"	"GALT"
"0000000062"	"GLB1"
"0000000062"	"HSPG2"
"0000000062"	"IGHMBP2"
"0000000062"	"MEFV"
"0000000062"	"NEB"
"0000000062"	"NPHS1"
"0000000062"	"SERPINA1"
"0000000062"	"SLC26A2"
"0000000062"	"TGM1"
"0000000067"	"ASPA"
"0000000067"	"ATP7B"
"0000000067"	"CDH23"
"0000000067"	"CPT1A"
"0000000067"	"CYP21A2"
"0000000067"	"ETFB"
"0000000067"	"GALC"
"0000000067"	"GLB1"
"0000000067"	"MEFV"
"0000000067"	"MTHFR"
"0000000067"	"MVK"
"0000000067"	"NHLRC1"
"0000000067"	"NPHS1"
"0000000067"	"SERPINA1"
"0000000067"	"SLC26A2"
"0000000067"	"SMPD1"
"0000000067"	"WNT10A"
"0000000070"	"ACADSB"
"0000000070"	"ATP7B"
"0000000070"	"CFTR"
"0000000070"	"ETFB"
"0000000070"	"HBA1"
"0000000070"	"IGHMBP2"
"0000000070"	"MTHFR"
"0000000070"	"MYO5A"
"0000000070"	"SERPINA1"
"0000000070"	"SLC26A2"
"0000000076"	"ATP7B"
"0000000076"	"BCKDHA"
"0000000076"	"FKRP"
"0000000076"	"GAA"
"0000000076"	"GLB1"
"0000000076"	"HSD17B4"
"0000000076"	"IGHMBP2"
"0000000076"	"MEFV"
"0000000076"	"NHLRC1"
"0000000076"	"NPHS1"
"0000000076"	"PMM2"
"0000000076"	"POMGNT1"
"0000000076"	"PPT1"
"0000000076"	"SERPINA1"
"0000000076"	"SLC26A2"
"0000000077"	"AGXT"
"0000000077"	"ATP7B"
"0000000077"	"ETFB"
"0000000077"	"GLB1"
"0000000077"	"MYO5A"
"0000000077"	"NPHS1"
"0000000077"	"SERPINA1"
"0000000077"	"SLC26A2"
"0000000077"	"USH2A"
"0000000078"	"ATP7B"
"0000000078"	"CDH23"
"0000000078"	"CFTR"
"0000000078"	"ETFB"
"0000000078"	"GLB1"
"0000000078"	"IGHMBP2"
"0000000078"	"NPHS1"
"0000000078"	"PMM2"
"0000000078"	"POLG"
"0000000078"	"RAG1"
"0000000078"	"SERPINA1"
"0000000078"	"SLC26A2"
"0000000086"	"ARSB"
"0000000086"	"ATP7B"
"0000000086"	"BTD"
"0000000086"	"ETFB"
"0000000086"	"GLB1"
"0000000086"	"HEXB"
"0000000086"	"HPRT1"
"0000000086"	"IGHMBP2"
"0000000086"	"NHLRC1"
"0000000086"	"POLG"
"0000000086"	"SERPINA1"
"0000000086"	"SLC26A2"
"0000000087"	"AHI1"
"0000000087"	"ATP7B"
"0000000087"	"BTD"
"0000000087"	"CYP21A2"
"0000000087"	"ETFB"
"0000000087"	"FRAS1"
"0000000087"	"GLB1"
"0000000087"	"IGHMBP2"
"0000000087"	"NHLRC1"
"0000000087"	"SERPINA1"
"0000000087"	"SLC26A2"
"0000000099"	"ARSB"
"0000000099"	"ATP7B"
"0000000099"	"ETFB"
"0000000099"	"HESX1"
"0000000099"	"HGSNAT"
"0000000099"	"LAMA2"
"0000000099"	"NHLRC1"
"0000000099"	"SERPINA1"
"0000000099"	"SLC26A2"
"0000000099"	"TMEM216"
"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"
"0000080980"	"SLC26A2"
"0000081812"	"SLC26A2"
"0000335705"	"SLC26A2"
"0000415985"	"GALT"
"0000415986"	"HPRT1"


## 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 = 139
"{{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}}"
"0000001057"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001058"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001061"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001062"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001064"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001065"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001066"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001067"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001068"	"3"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001069"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001070"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001071"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001072"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001073"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001074"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001075"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001076"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001077"	"3"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001078"	"3"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001079"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001080"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001081"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001082"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001083"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001084"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001085"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001086"	"3"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001087"	"0"	"50"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00002"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981658A>T"	""	"VUS"	""
"0000001088"	"0"	"50"	"5"	"149357444"	"149357444"	"subst"	"0.00469674"	"00002"	"SLC26A2_000002"	"g.149357444A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149977881A>C"	""	"VUS"	""
"0000001089"	"0"	"50"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"00002"	"SLC26A2_000003"	"g.149360630C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981067C>T"	""	"VUS"	""
"0000001090"	"0"	"50"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"00002"	"SLC26A2_000003"	"g.149360630C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981067C>T"	""	"VUS"	""
"0000001091"	"0"	"50"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"00002"	"SLC26A2_000003"	"g.149360630C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981067C>T"	""	"VUS"	""
"0000016468"	"0"	"99"	"5"	"149340544"	"149340544"	"subst"	"0"	"00015"	"SLC26A2_000004"	"g.149340544T>C"	""	"{PMID:Hästbacka et al. 1999:10482955}, {PMID:Dwyer et al. 2010:21077202}, {PMID: Mäkitie et al. 2014:24598000}"	""	"c.-26+2T>C: DTDSTFin; IVS1+2T>C"	"Finnish DTD Founder/Major mutation: ~80% of Finnish DTD patients (most hom). Also in ~18% of non-Finnish DTD patients."	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149960981T>C"	""	"pathogenic"	""
"0000016469"	"0"	"99"	"5"	"149357262"	"149357262"	"subst"	"0"	"00015"	"SLC26A2_000005"	"g.149357262C>G"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"74C>G: S16X"	"Rare Italian DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149977699C>G"	""	"pathogenic"	""
"0000016470"	"0"	"99"	"5"	"149357270"	"149357270"	"subst"	"0"	"00015"	"SLC26A2_000006"	"g.149357270G>T"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"82G>T: G19X"	"Rare British-Australian DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149977707G>T"	""	"pathogenic"	""
"0000016471"	"0"	"77"	"5"	"149357444"	"149357444"	"subst"	"0.00469674"	"00015"	"SLC26A2_000002"	"g.149357444A>C"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"256A>C: N77H"	"Rare French DTD mutation (mild DTD variant)"	"SUMMARY record"	"yes"	"rs76784312"	"0"	""	""	"g.149977881A>C"	""	"likely pathogenic"	""
"0000016472"	"0"	"99"	"5"	"149357470"	"149357470"	"del"	"0"	"00015"	"SLC26A2_000007"	"g.149357470del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"282delC: FS/stop"	"Rare French DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149977907del"	""	"pathogenic"	""
"0000016473"	"0"	"77"	"5"	"149357546"	"149357546"	"subst"	"0"	"00015"	"SLC26A2_000008"	"g.149357546G>T"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"359G>T: D111Y"	"Rare German DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149977983G>T"	""	"likely pathogenic"	""
"0000016474"	"0"	"77"	"5"	"149357618"	"149357618"	"subst"	"0"	"00015"	"SLC26A2_000009"	"g.149357618C>A"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"430C>A: Q135R"	"Rare French DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149978055C>A"	""	"likely pathogenic"	""
"0000016475"	"0"	"77"	"5"	"149357711"	"149357711"	"subst"	"0"	"00015"	"SLC26A2_000010"	"g.149357711G>A"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"523G>A: G166R"	"Rare Spanish DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149978148G>A"	""	"likely pathogenic"	""
"0000016476"	"0"	"99"	"5"	"149357747"	"149357747"	"subst"	"0.000138349"	"00015"	"SLC26A2_000011"	"g.149357747C>T"	""	"{PMID:Superti-Furga et al. 1996b:8723100}, {PMID:Superti-Furga et al. 1996a:8702127}, {PMID:Barbosa et al. 2011:21155763}"	""	"c559t: R178X"	"Several DTD patients of various ethnicity; Functional studies show dicreased sulfate transport activity"	"SUMMARY record"	"yes"	"rs104893919"	"0"	""	""	"g.149978184C>T"	""	"pathogenic"	""
"0000016477"	"0"	"77"	"5"	"149359855"	"149359855"	"subst"	"0"	"00015"	"SLC26A2_000012"	"g.149359855G>C"	""	"{PMID:Hästbacka et al. 1994:7923357}, {PMID:Superti-Furga et al. 1996b:8723100}, {PMID:Superti-Furga et al. 1996a:8702127}, {PMID:Barbosa et al. 2011:21155763}"	""	"3\' splice acceptor site of the first intron after start codon: AG>AC; ag( IVS- 1 )ac; IVS2-1G>C; c.727-1G>C"	"1 American DTD patient (het) and 2 Portugese DTD patients (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149980292G>C"	""	"likely pathogenic"	""
"0000016478"	"0"	"99"	"5"	"149359861"	"149359867"	"del"	"0"	"00015"	"SLC26A2_000013"	"g.149359861_149359867del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"731-737delGATGGGC: FS/stop"	"Rare Hispanic-American DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149980298_149980304del"	""	"pathogenic"	""
"0000016479"	"0"	"99"	"5"	"149359920"	"149359920"	"subst"	"0"	"00015"	"SLC26A2_000014"	"g.149359920G>A"	""	"{PMID:Hästbacka et al. 1994:7923357}, {PMID:Superti-Furga et al. 1996b:8723100}, {PMID:Superti-Furga et al. 1996a:8702127}"	""	"g791a (G255E)"	"Several DTD patients of various ethnicity; Functional studies show dicreased sulfate transport activity"	"SUMMARY record"	"yes"	"rs104893917"	"0"	""	""	"g.149980357G>A"	""	"pathogenic"	""
"0000016480"	"0"	"99"	"5"	"149359991"	"149359991"	"subst"	"0.000987861"	"00015"	"SLC26A2_000015"	"g.149359991C>T"	""	"{PMID:Hästbacka et al. 1994:7923357}, {PMID:Superti-Furga et al. 1996b:8723100}, {PMID:Superti-Furga et al. 1996a:8702127}, {PMID:Hästbacka et al. 1999:10482955}, {PMID:Dwyer et al. 2010:21077202}, {PMID:Barbosa et al. 2011:21155763}"	""	"862C>T: R279W; c862t:R279W"	"Many Caucasian and  Finnish DTD families: The second most common DTD mutation in Finland and most frequent mutation outside Finland; Functional studies show dicreased sulfate transport activity"	"SUMMARY record"	"yes"	"rs104893915"	"0"	""	""	"g.149980428C>T"	""	"pathogenic"	""
"0000016481"	"0"	"99"	"5"	"149360062"	"149360063"	"del"	"0"	"00015"	"SLC26A2_000016"	"g.149360062_149360063del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"933-934delCT: FS/stop"	"Rare French DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149980499_149980500del"	""	"pathogenic"	""
"0000016482"	"0"	"99"	"5"	"149360176"	"149360178"	"del"	"0"	"00015"	"SLC26A2_000017"	"g.149360176_149360178del"	""	"{PMID:Superti-Furga et al. 1996b:8723100}, {PMID:Superti-Furga et al. 1996a:8702127}, {PMID:Hästbacka et al. 1999:10482955}, {PMID:Cai et al. 1998:9637425}"	""	"∆gtt (∆V340); 1045–1047delGTT: V340del"	"Several DTD patients of various ethnicity, also Finnish and Japanese; Functional studies show decreased sulfate transport activity"	"SUMMARY record"	"yes"	"rs121908077"	"0"	""	""	"g.149980613_149980615del"	""	"pathogenic"	""
"0000016483"	"0"	"77"	"5"	"149360313"	"149360313"	"subst"	"0"	"00015"	"SLC26A2_000018"	"g.149360313C>T"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1184C>T: A386V"	"Lebanese DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149980750C>T"	""	"likely pathogenic"	""
"0000016484"	"0"	"99"	"5"	"149360398"	"149360401"	"del"	"0"	"00015"	"SLC26A2_000019"	"g.149360398_149360401del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1269-1272delAAAC: FS/stop"	"German DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149980835_149980838del"	""	"pathogenic"	""
"0000016485"	"0"	"99"	"5"	"149360429"	"149360429"	"subst"	"0"	"00015"	"SLC26A2_000020"	"g.149360429A>G"	""	"{PMID:Superti-Furga_et al. 1996c:8528239}, {PMID:Barbosa et al. 2011:21155763}"	""	"A1300G: N425D; Asn425Asp"	"1 Portugese DTD patient (com-het); Functional studies show dicreased sulfate transport activity"	"SUMMARY record"	"yes"	"rs104893920"	"0"	""	""	"g.149980866A>G"	""	"pathogenic"	""
"0000016486"	"3"	"77"	"5"	"149360517"	"149360517"	"subst"	"0"	"00015"	"SLC26A2_000021"	"g.149360517A>C"	""	"{PMID:Megarbane et al. 1999:10466420}"	""	"a1388c: Q454P"	"1 Lebanese DTD family"	"SUMMARY record"	"yes"	"rs104893921"	"0"	""	""	"g.149980954A>C"	""	"likely pathogenic"	""
"0000016487"	"0"	"99"	"5"	"149360550"	"149360550"	"del"	"0"	"00015"	"SLC26A2_000022"	"g.149360550del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1421delT: FS/stop"	"Rare Belgian DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149980987del"	""	"pathogenic"	""
"0000016488"	"0"	"77"	"5"	"149360607"	"149360607"	"subst"	"0"	"00015"	"SLC26A2_000023"	"g.149360607G>A"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1478G>A: G484D"	"Rare Czech DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149981044G>A"	""	"likely pathogenic"	""
"0000016489"	"0"	"77"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"00015"	"SLC26A2_000003"	"g.149360630C>T"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1501C>T: R492W"	"DTD mutation, seen in several DTD patients"	"SUMMARY record"	"yes"	"rs78676079"	"0"	""	""	"g.149981067C>T"	""	"likely pathogenic"	""
"0000016490"	"0"	"99"	"5"	"149360691"	"149360691"	"subst"	"5.2858E-5"	"00015"	"SLC26A2_000024"	"g.149360691C>A"	""	"{PMID:Bonafe et al. 2008:18708426}"	""	"c.1535C.A change (p.T512K)"	"1 Finnish DTD family (hom); Cells expressing p.Thr512Lys mutant showed no sulfate uptake"	"SUMMARY record"	"yes"	"rs121908078"	"0"	""	""	"g.149981128C>A"	""	"pathogenic"	""
"0000016491"	"0"	"99"	"5"	"149360806"	"149360806"	"del"	"8.13154E-6"	"00015"	"SLC26A2_000025"	"g.149360806del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1677delG: FS/stop"	"Rare British-Italian DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149981243del"	""	"pathogenic"	""
"0000016492"	"0"	"55"	"5"	"149360877"	"149360877"	"subst"	"0.993125"	"00015"	"SLC26A2_000026"	"g.149360877T>C"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1748C>T: T574I possibly rare polymorphism"	"German, Dutch polymorphism, possible association with DTD; Possibly rare polymorphism"	"SUMMARY record"	"yes"	"rs30832"	"0"	""	""	"g.149981314T>C"	""	"VUS"	""
"0000016493"	"0"	"99"	"5"	"149360880"	"149360880"	"del"	"0"	"00015"	"SLC26A2_000027"	"g.149360880del"	""	"{PMID:Hästbacka et al. 1994:7923357}, {PMID:Superti-Furga et al. 1996b:8723100}, {PMID:Superti-Furga et al. 1996a:8702127}"	""	"∆a1751 (FS)"	"Several DTD patients of various ethnicity"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149981317del"	""	"pathogenic"	""
"0000016494"	"0"	"77"	"5"	"149361113"	"149361113"	"subst"	"0.000117873"	"00015"	"SLC26A2_000028"	"g.149361113T>A"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"1984T>A: C653S"	"DTD mutation, observed in several DTD patients and also in one rMED DTD patient."	"SUMMARY record"	"yes"	"rs104893924"	"0"	""	""	"g.149981550T>A"	""	"likely pathogenic"	""
"0000016495"	"0"	"99"	"5"	"149361132"	"149361132"	"del"	"0"	"00015"	"SLC26A2_000029"	"g.149361132del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"2003delT: FS/stop"	"Rare DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149981569del"	""	"pathogenic"	""
"0000016496"	"0"	"99"	"5"	"149361139"	"149361139"	"del"	"0"	"00015"	"SLC26A2_000030"	"g.149361139del"	""	"{PMID:Hästbacka et al. 1994:7923357}, {PMID:Superti-Furga et al. 1996b:8723100}, {PMID:Superti-Furga et al. 1996a:8702127}"	""	"∆a2009 (FS); ∆a2010 (FS)"	"Rare DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149981576del"	""	"pathogenic"	""
"0000016497"	"0"	"77"	"5"	"149361150"	"149361150"	"subst"	"2.03259E-5"	"00015"	"SLC26A2_000031"	"g.149361150A>C"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"2021A>C: H665P"	"Rare Canadian-British DTD mutation"	"SUMMARY record"	"yes"	"rs141798540"	"0"	""	""	"g.149981587A>C"	""	"likely pathogenic"	""
"0000016498"	"0"	"99"	"5"	"149361276"	"149361277"	"del"	"0"	"00015"	"SLC26A2_000032"	"g.149361276_149361277del"	""	"{PMID:Rossi et al. 2001:11241838}"	""	"2147-2148: FS/stop"	"Rare French DTD mutation"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.149981713_149981714del"	""	"pathogenic"	""
"0000130066"	"3"	"90"	"5"	"149360604"	"149360604"	"subst"	"0"	"01758"	"SLC26A2_000035"	"g.149360604T>C"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.149981041T>C"	""	"pathogenic"	"ACMG"
"0000132544"	"0"	"70"	"5"	"149361061"	"149361061"	"del"	"0"	"01709"	"SLC26A2_000033"	"g.149361061del"	""	""	""	"1905delG (Thr627Leufs*23)"	"variant description correct?"	"Unknown"	""	""	"0"	""	""	"g.149981498del"	""	"likely pathogenic"	""
"0000132545"	"0"	"70"	"5"	"149357559"	"149357559"	"subst"	"4.062E-6"	"01709"	"SLC26A2_000034"	"g.149357559G>C"	""	""	""	"371G>C (Gly115Ala)"	""	"Unknown"	""	""	"0"	""	""	"g.149977996G>C"	""	"likely pathogenic"	""
"0000247897"	"0"	"10"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"02325"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	"SLC26A2(NM_000112.3):c.2065A>T (p.T689S), SLC26A2(NM_000112.4):c.2065A>T (p.T689S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981658A>T"	""	"benign"	""
"0000249875"	"0"	"10"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"02329"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	"SLC26A2(NM_000112.3):c.2065A>T (p.T689S), SLC26A2(NM_000112.4):c.2065A>T (p.T689S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981658A>T"	""	"benign"	""
"0000253099"	"0"	"10"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"01943"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	"SLC26A2(NM_000112.3):c.2065A>T (p.T689S), SLC26A2(NM_000112.4):c.2065A>T (p.T689S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981658A>T"	""	"benign"	""
"0000255571"	"0"	"90"	"5"	"149360429"	"149360429"	"subst"	"0"	"01943"	"SLC26A2_000020"	"g.149360429A>G"	""	""	""	"SLC26A2(NM_000112.3):c.1273A>G (p.N425D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149980866A>G"	""	"pathogenic"	""
"0000298274"	"0"	"10"	"5"	"149360877"	"149360877"	"subst"	"0.993125"	"02325"	"SLC26A2_000026"	"g.149360877T>C"	""	""	""	"SLC26A2(NM_000112.3):c.1721T>C (p.I574T), SLC26A2(NM_000112.4):c.1721T>C (p.I574T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981314T>C"	""	"benign"	""
"0000299517"	"0"	"10"	"5"	"149360877"	"149360877"	"subst"	"0.993125"	"02329"	"SLC26A2_000026"	"g.149360877T>C"	""	""	""	"SLC26A2(NM_000112.3):c.1721T>C (p.I574T), SLC26A2(NM_000112.4):c.1721T>C (p.I574T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981314T>C"	""	"benign"	""
"0000299518"	"0"	"90"	"5"	"149357606"	"149357606"	"del"	"0"	"02329"	"SLC26A2_000037"	"g.149357606del"	""	""	""	"SLC26A2(NM_000112.4):c.391delC (p.L131Cfs*41)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149978043del"	""	"pathogenic"	""
"0000302188"	"0"	"10"	"5"	"149360877"	"149360877"	"subst"	"0.993125"	"02326"	"SLC26A2_000026"	"g.149360877T>C"	""	""	""	"SLC26A2(NM_000112.3):c.1721T>C (p.I574T), SLC26A2(NM_000112.4):c.1721T>C (p.I574T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981314T>C"	""	"benign"	""
"0000308325"	"0"	"30"	"5"	"149340385"	"149340385"	"subst"	"0"	"01943"	"SLC26A2_000036"	"g.149340385G>C"	""	""	""	"SLC26A2(NM_000112.3):c.-183G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149960822G>C"	""	"likely benign"	""
"0000308326"	"0"	"90"	"5"	"149340544"	"149340544"	"subst"	"0"	"01943"	"SLC26A2_000004"	"g.149340544T>C"	""	""	""	"SLC26A2(NM_000112.3):c.-26+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149960981T>C"	""	"pathogenic"	""
"0000308327"	"0"	"90"	"5"	"149360176"	"149360178"	"del"	"0"	"01943"	"SLC26A2_000041"	"g.149360176_149360178del"	""	""	""	"SLC26A2(NM_000112.3):c.1020_1022delTGT (p.V341del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149980613_149980615del"	""	"pathogenic"	""
"0000308328"	"0"	"10"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"01943"	"SLC26A2_000003"	"g.149360630C>T"	""	""	""	"SLC26A2(NM_000112.3):c.1474C>T (p.R492W, p.(Arg492Trp)), SLC26A2(NM_000112.4):c.1474C>T (p.R492W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981067C>T"	""	"benign"	""
"0000308329"	"0"	"90"	"5"	"149360691"	"149360691"	"subst"	"5.2858E-5"	"01943"	"SLC26A2_000024"	"g.149360691C>A"	""	""	""	"SLC26A2(NM_000112.3):c.1535C>A (p.T512K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981128C>A"	""	"pathogenic"	""
"0000308331"	"0"	"90"	"5"	"149360962"	"149360965"	"del"	"0"	"01943"	"SLC26A2_000043"	"g.149360962_149360965del"	""	""	""	"SLC26A2(NM_000112.3):c.1806_1809delAACT (p.T603Sfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981399_149981402del"	""	"pathogenic"	""
"0000308332"	"0"	"90"	"5"	"149361113"	"149361113"	"subst"	"0.000117873"	"01943"	"SLC26A2_000028"	"g.149361113T>A"	""	""	""	"SLC26A2(NM_000112.3):c.1957T>A (p.C653S, p.(Cys653Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981550T>A"	""	"pathogenic"	""
"0000308333"	"0"	"90"	"5"	"149361300"	"149361300"	"subst"	"3.71508E-5"	"01943"	"SLC26A2_000044"	"g.149361300C>T"	""	""	""	"SLC26A2(NM_000112.3):c.2144C>T (p.A715V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981737C>T"	""	"pathogenic"	""
"0000308334"	"0"	"30"	"5"	"149357689"	"149357689"	"subst"	"0.000169591"	"01943"	"SLC26A2_000038"	"g.149357689T>C"	""	""	""	"SLC26A2(NM_000112.3):c.474T>C (p.R158=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149978126T>C"	""	"likely benign"	""
"0000308335"	"0"	"90"	"5"	"149357747"	"149357747"	"subst"	"0.000138349"	"01943"	"SLC26A2_000011"	"g.149357747C>T"	""	""	""	"SLC26A2(NM_000112.3):c.532C>T (p.R178*, p.(Arg178*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149978184C>T"	""	"pathogenic"	""
"0000308336"	"0"	"90"	"5"	"149359932"	"149359932"	"subst"	"4.06289E-6"	"01943"	"SLC26A2_000039"	"g.149359932G>T"	""	""	""	"SLC26A2(NM_000112.3):c.776G>T (p.G259V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149980369G>T"	""	"pathogenic"	""
"0000308337"	"0"	"90"	"5"	"149359991"	"149359991"	"subst"	"0.000987861"	"01943"	"SLC26A2_000015"	"g.149359991C>T"	""	""	""	"SLC26A2(NM_000112.3):c.835C>T (p.R279W, p.(Arg279Trp)), SLC26A2(NM_000112.4):c.835C>T (p.R279W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149980428C>T"	""	"pathogenic"	""
"0000308338"	"0"	"50"	"5"	"149360087"	"149360087"	"subst"	"4.06507E-6"	"01943"	"SLC26A2_000040"	"g.149360087T>C"	""	""	""	"SLC26A2(NM_000112.3):c.931T>C (p.C311R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149980524T>C"	""	"VUS"	""
"0000330662"	"0"	"50"	"5"	"149361113"	"149361113"	"subst"	"0.000117873"	"01804"	"SLC26A2_000028"	"g.149361113T>A"	""	""	""	"SLC26A2(NM_000112.3):c.1957T>A (p.C653S, p.(Cys653Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.149981550T>A"	""	"VUS"	""
"0000473814"	"11"	"90"	"5"	"149361311"	"149361311"	"del"	"0"	"01709"	"SLC26A2_000045"	"g.149361311del"	""	""	""	"c.2182delG / p.(Ala719Glnfs*16)"	""	"Germline"	""	""	"0"	""	""	"g.149981748del"	""	"pathogenic (recessive)"	""
"0000524805"	"0"	"30"	"5"	"149357444"	"149357444"	"subst"	"0.00469674"	"01804"	"SLC26A2_000002"	"g.149357444A>C"	""	""	""	"SLC26A2(NM_000112.3):c.229A>C (p.(Asn77His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149977881A>C"	""	"likely benign"	""
"0000524806"	"0"	"70"	"5"	"149357509"	"149357509"	"subst"	"4.0618E-6"	"02327"	"SLC26A2_000046"	"g.149357509G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149977946G>A"	""	"likely pathogenic"	""
"0000524807"	"0"	"50"	"5"	"149357514"	"149357514"	"subst"	"4.06147E-6"	"01804"	"SLC26A2_000047"	"g.149357514C>G"	""	""	""	"SLC26A2(NM_000112.3):c.299C>G (p.(Pro100Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149977951C>G"	""	"VUS"	""
"0000524808"	"0"	"90"	"5"	"149357747"	"149357747"	"subst"	"0.000138349"	"02327"	"SLC26A2_000011"	"g.149357747C>T"	""	""	""	"SLC26A2(NM_000112.3):c.532C>T (p.R178*, p.(Arg178*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149978184C>T"	""	"pathogenic"	""
"0000524810"	"0"	"50"	"5"	"149359938"	"149359938"	"subst"	"0.000771962"	"01804"	"SLC26A2_000049"	"g.149359938C>G"	""	""	""	"SLC26A2(NM_000112.3):c.782C>G (p.(Ser261Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149980375C>G"	""	"VUS"	""
"0000524811"	"0"	"90"	"5"	"149359991"	"149359991"	"subst"	"0.000987861"	"02327"	"SLC26A2_000015"	"g.149359991C>T"	""	""	""	"SLC26A2(NM_000112.3):c.835C>T (p.R279W, p.(Arg279Trp)), SLC26A2(NM_000112.4):c.835C>T (p.R279W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149980428C>T"	""	"pathogenic"	""
"0000524812"	"0"	"30"	"5"	"149360143"	"149360143"	"subst"	"0.0025567"	"02329"	"SLC26A2_000050"	"g.149360143T>C"	""	""	""	"SLC26A2(NM_000112.4):c.987T>C (p.L329=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149980580T>C"	""	"likely benign"	""
"0000524813"	"0"	"90"	"5"	"149360591"	"149360591"	"subst"	"4.06445E-6"	"01943"	"SLC26A2_000051"	"g.149360591C>T"	""	""	""	"SLC26A2(NM_000112.3):c.1435C>T (p.Q479*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981028C>T"	""	"pathogenic"	""
"0000524814"	"0"	"30"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"01804"	"SLC26A2_000003"	"g.149360630C>T"	""	""	""	"SLC26A2(NM_000112.3):c.1474C>T (p.R492W, p.(Arg492Trp)), SLC26A2(NM_000112.4):c.1474C>T (p.R492W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981067C>T"	""	"likely benign"	""
"0000524815"	"0"	"10"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"02329"	"SLC26A2_000003"	"g.149360630C>T"	""	""	""	"SLC26A2(NM_000112.3):c.1474C>T (p.R492W, p.(Arg492Trp)), SLC26A2(NM_000112.4):c.1474C>T (p.R492W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981067C>T"	""	"benign"	""
"0000524816"	"0"	"50"	"5"	"149360688"	"149360688"	"subst"	"0"	"01804"	"SLC26A2_000052"	"g.149360688A>T"	""	""	""	"SLC26A2(NM_000112.3):c.1532A>T (p.(Asp511Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981125A>T"	""	"VUS"	""
"0000524817"	"0"	"10"	"5"	"149360877"	"149360877"	"subst"	"0.993125"	"02327"	"SLC26A2_000026"	"g.149360877T>C"	""	""	""	"SLC26A2(NM_000112.3):c.1721T>C (p.I574T), SLC26A2(NM_000112.4):c.1721T>C (p.I574T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981314T>C"	""	"benign"	""
"0000524818"	"0"	"10"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"02327"	"SLC26A2_000001"	"g.149361221A>T"	""	""	""	"SLC26A2(NM_000112.3):c.2065A>T (p.T689S), SLC26A2(NM_000112.4):c.2065A>T (p.T689S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981658A>T"	""	"benign"	""
"0000524819"	"0"	"10"	"5"	"149361376"	"149361376"	"subst"	"0.00317414"	"02329"	"SLC26A2_000053"	"g.149361376A>G"	""	""	""	"SLC26A2(NM_000112.4):c.2220A>G (p.*740=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981813A>G"	""	"benign"	""
"0000621505"	"0"	"50"	"5"	"149361150"	"149361150"	"subst"	"2.03259E-5"	"01943"	"SLC26A2_000031"	"g.149361150A>C"	""	""	""	"SLC26A2(NM_000112.3):c.1994A>C (p.H665P, p.(His665Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.149981587A>C"	""	"VUS"	""
"0000651652"	"1"	"30"	"5"	"149360630"	"149360630"	"subst"	"0.0167416"	"03575"	"SLC26A2_000003"	"g.149360630C>T"	"44/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"44 heterozygous, no homozygous; {DB:CLININrs78676079}"	"Germline"	""	"rs78676079"	"0"	""	""	"g.149981067C>T"	""	"likely benign"	""
"0000651653"	"1"	"50"	"5"	"149360668"	"149360668"	"subst"	"0.000260135"	"03575"	"SLC26A2_000054"	"g.149360668G>A"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs76668544}"	"Germline"	""	"rs76668544"	"0"	""	""	"g.149981105G>A"	""	"VUS"	""
"0000689461"	"0"	"50"	"5"	"149360237"	"149360237"	"subst"	"0.000223726"	"01804"	"SLC26A2_000055"	"g.149360237G>A"	""	""	""	"SLC26A2(NM_000112.3):c.1081G>A (p.(Ala361Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720266"	"0"	"30"	"5"	"149357870"	"149357870"	"subst"	"0.00186052"	"01804"	"SLC26A2_000056"	"g.149357870A>G"	""	""	""	"SLC26A2(NM_000112.3):c.655A>G (p.(Ile219Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720267"	"0"	"30"	"5"	"149360202"	"149360202"	"subst"	"0.00053693"	"01804"	"SLC26A2_000057"	"g.149360202T>A"	""	""	""	"SLC26A2(NM_000112.3):c.1046T>A (p.(Phe349Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000734424"	"11"	"70"	"5"	"149361311"	"149361311"	"del"	"0"	"01709"	"SLC26A2_000058"	"g.149361311del"	""	""	""	"c.2182del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	"ACMG"
"0000801962"	"0"	"70"	"5"	"149357747"	"149357747"	"subst"	"0.000138349"	"01804"	"SLC26A2_000011"	"g.149357747C>T"	""	""	""	"SLC26A2(NM_000112.3):c.532C>T (p.R178*, p.(Arg178*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000801963"	"0"	"30"	"5"	"149360616"	"149360616"	"subst"	"4.87698E-5"	"01804"	"SLC26A2_000059"	"g.149360616C>T"	""	""	""	"SLC26A2(NM_000112.3):c.1460C>T (p.(Thr487Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859817"	"0"	"90"	"5"	"149359991"	"149359991"	"subst"	"0.000987861"	"01804"	"SLC26A2_000015"	"g.149359991C>T"	""	""	""	"SLC26A2(NM_000112.3):c.835C>T (p.R279W, p.(Arg279Trp)), SLC26A2(NM_000112.4):c.835C>T (p.R279W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000873909"	"0"	"10"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00000"	"SLC26A2_000001"	"g.149361221A>T"	""	"{PMID:Bell 2011:21228398}"	""	"SLC26A2 5:149341414 (hg18) hom CM980573 32.7%"	"non-causative, homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149981658A>T"	""	"benign"	""
"0000873921"	"0"	"10"	"5"	"149361221"	"149361221"	"subst"	"0.171663"	"00000"	"SLC26A2_000001"	"g.149361221A>T"	""	"{PMID:Bell 2011:21228398}"	""	"SLC26A2 5:149341414 (hg18) hom CM980573 32.7%"	"non-causative, homozygous"	"Germline"	"?"	""	"0"	""	""	"g.149981658A>T"	""	"benign"	""
"0000886682"	"0"	"30"	"5"	"149361150"	"149361150"	"subst"	"2.03259E-5"	"01804"	"SLC26A2_000031"	"g.149361150A>C"	""	""	""	"SLC26A2(NM_000112.3):c.1994A>C (p.H665P, p.(His665Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886683"	"0"	"50"	"5"	"149361150"	"149361150"	"subst"	"2.03259E-5"	"02327"	"SLC26A2_000031"	"g.149361150A>C"	""	""	""	"SLC26A2(NM_000112.3):c.1994A>C (p.H665P, p.(His665Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912262"	"0"	"90"	"5"	"149359991"	"149359991"	"subst"	"0.000987861"	"02329"	"SLC26A2_000015"	"g.149359991C>T"	""	""	""	"SLC26A2(NM_000112.3):c.835C>T (p.R279W, p.(Arg279Trp)), SLC26A2(NM_000112.4):c.835C>T (p.R279W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000912263"	"0"	"90"	"5"	"149360880"	"149360880"	"del"	"0"	"02329"	"SLC26A2_000027"	"g.149360880del"	""	""	""	"SLC26A2(NM_000112.4):c.1724delA (p.K575Sfs*10)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000924278"	"0"	"90"	"5"	"149357653"	"149357653"	"dup"	"0"	"02329"	"SLC26A2_000060"	"g.149357653dup"	""	""	""	"SLC26A2(NM_000112.4):c.438dupT (p.A147Cfs*28)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000924279"	"0"	"50"	"5"	"149359989"	"149359989"	"subst"	"0"	"01804"	"SLC26A2_000061"	"g.149359989C>T"	""	""	""	"SLC26A2(NM_000112.3):c.833C>T (p.(Pro278Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000948509"	"0"	"70"	"5"	"149360401"	"149360401"	"subst"	"0"	"02329"	"SLC26A2_000062"	"g.149360401C>A"	""	""	""	"SLC26A2(NM_000112.4):c.1245C>A (p.N415K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000976646"	"0"	"50"	"5"	"149357573"	"149357573"	"subst"	"4.0626E-6"	"01804"	"SLC26A2_000063"	"g.149357573A>C"	""	""	""	"SLC26A2(NM_000112.4):c.358A>C (p.(Ile120Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976647"	"0"	"50"	"5"	"149357610"	"149357610"	"subst"	"0"	"01804"	"SLC26A2_000064"	"g.149357610T>C"	""	""	""	"SLC26A2(NM_000112.4):c.395T>C (p.(Leu132Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976648"	"0"	"50"	"5"	"149360408"	"149360408"	"subst"	"8.12975E-6"	"01804"	"SLC26A2_000065"	"g.149360408A>G"	""	""	""	"SLC26A2(NM_000112.4):c.1252A>G (p.(Met418Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000994775"	"0"	"70"	"5"	"149357700"	"149357701"	"del"	"0"	"01804"	"SLC26A2_000066"	"g.149357700_149357701del"	""	""	""	"SLC26A2(NM_000112.3):c.485_486delTG (p.(Val162fs))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001014097"	"0"	"50"	"5"	"149357625"	"149357625"	"subst"	"0"	"02327"	"SLC26A2_000067"	"g.149357625C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014098"	"0"	"50"	"5"	"149360570"	"149360570"	"subst"	"0"	"02327"	"SLC26A2_000068"	"g.149360570G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035014"	"0"	"50"	"5"	"149357554"	"149357554"	"subst"	"4.06164E-6"	"01804"	"SLC26A2_000069"	"g.149357554G>A"	""	""	""	"SLC26A2(NM_000112.4):c.339G>A (p.(Met113Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035015"	"0"	"50"	"5"	"149357688"	"149357688"	"subst"	"2.89881E-5"	"01804"	"SLC26A2_000070"	"g.149357688G>A"	""	""	""	"SLC26A2(NM_000112.4):c.473G>A (p.(Arg158His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035016"	"0"	"50"	"5"	"149357910"	"149357910"	"subst"	"9.85036E-5"	"01804"	"SLC26A2_000071"	"g.149357910A>T"	""	""	""	"SLC26A2(NM_000112.4):c.695A>T (p.(Tyr232Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035017"	"0"	"90"	"5"	"149359991"	"149359991"	"subst"	"0.000987861"	"02325"	"SLC26A2_000015"	"g.149359991C>T"	""	""	""	"SLC26A2(NM_000112.3):c.835C>T (p.R279W, p.(Arg279Trp)), SLC26A2(NM_000112.4):c.835C>T (p.R279W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001035018"	"0"	"70"	"5"	"149360505"	"149360505"	"subst"	"4.06669E-6"	"01804"	"SLC26A2_000072"	"g.149360505G>A"	""	""	""	"SLC26A2(NM_000112.4):c.1349G>A (p.(Gly450Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001035019"	"0"	"50"	"5"	"149360696"	"149360696"	"subst"	"0"	"01804"	"SLC26A2_000073"	"g.149360696A>G"	""	""	""	"SLC26A2(NM_000112.4):c.1540A>G (p.(Ile514Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035020"	"0"	"50"	"5"	"149361277"	"149361279"	"del"	"0"	"01804"	"SLC26A2_000074"	"g.149361277_149361279del"	""	""	""	"SLC26A2(NM_000112.4):c.2121_2123del (p.(Leu708del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052150"	"0"	"50"	"5"	"149357679"	"149357679"	"subst"	"0"	"01804"	"SLC26A2_000075"	"g.149357679G>A"	""	""	""	"SLC26A2(NM_000112.4):c.464G>A (p.(Gly155Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052151"	"0"	"50"	"5"	"149357850"	"149357850"	"subst"	"4.06888E-6"	"01804"	"SLC26A2_000076"	"g.149357850G>T"	""	""	""	"SLC26A2(NM_000112.4):c.635G>T (p.(Cys212Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052152"	"0"	"50"	"5"	"149360900"	"149360900"	"subst"	"6.91197E-5"	"01804"	"SLC26A2_000077"	"g.149360900C>T"	""	""	""	"SLC26A2(NM_000112.4):c.1744C>T (p.(Arg582Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001052153"	"0"	"50"	"5"	"149360901"	"149360901"	"subst"	"1.22002E-5"	"01804"	"SLC26A2_000078"	"g.149360901G>A"	""	""	""	"SLC26A2(NM_000112.4):c.1745G>A (p.(Arg582His))"	"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 SLC26A2
## Count = 139
"{{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}}"
"0000001057"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001058"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001061"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001062"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001064"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001065"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001066"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001067"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001068"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001069"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001070"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001071"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001072"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001073"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001074"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001075"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001076"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001077"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001078"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001079"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001080"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001081"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001082"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001083"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001084"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001085"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001086"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001087"	"00000137"	"50"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	"3"
"0000001088"	"00000137"	"50"	"229"	"0"	"229"	"0"	"c.229A>C"	"r.(?)"	"p.(Asn77His)"	"2"
"0000001089"	"00000137"	"50"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Arg492Trp)"	"3"
"0000001090"	"00000137"	"50"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Arg492Trp)"	"3"
"0000001091"	"00000137"	"50"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Arg492Trp)"	"3"
"0000016468"	"00000137"	"99"	"-26"	"2"	"-26"	"2"	"c.-26+2T>C"	"r.[0,=]"	"p.[0,=]"	"1i"
"0000016469"	"00000137"	"99"	"47"	"0"	"47"	"0"	"c.47C>G"	"r.(47c>g)"	"p.(Ser16*)"	"2"
"0000016470"	"00000137"	"99"	"55"	"0"	"55"	"0"	"c.55G>T"	"r.(55g>u)"	"p.(Gly19*)"	"2"
"0000016471"	"00000137"	"77"	"229"	"0"	"229"	"0"	"c.229A>C"	"r.(229a>c)"	"p.(Asn77His)"	"2"
"0000016472"	"00000137"	"99"	"255"	"0"	"255"	"0"	"c.255del"	"r.(?)"	"p.(Asn87Ilefs*2)"	"2"
"0000016473"	"00000137"	"77"	"331"	"0"	"331"	"0"	"c.331G>T"	"r.(331g>u)"	"p.(Asp111Tyr)"	"2"
"0000016474"	"00000137"	"77"	"403"	"0"	"403"	"0"	"c.403C>A"	"r.(403c>a)"	"p.(Gln135Lys)"	"2"
"0000016475"	"00000137"	"77"	"496"	"0"	"496"	"0"	"c.496G>A"	"r.(496g>a)"	"p.(Gly166Arg)"	"2"
"0000016476"	"00000137"	"99"	"532"	"0"	"532"	"0"	"c.532C>T"	"r.(532c>u)"	"p.(Arg178*)"	"2"
"0000016477"	"00000137"	"77"	"700"	"-1"	"700"	"-1"	"c.700-1G>C"	"r.spl?"	"p.?"	"3"
"0000016478"	"00000137"	"99"	"705"	"0"	"711"	"0"	"c.705_711del"	"r.(?)"	"p.(Met236Serfs*16)"	"3"
"0000016479"	"00000137"	"99"	"764"	"0"	"764"	"0"	"c.764G>A"	"r.(764g>a)"	"p.(Gly255Glu)"	"3"
"0000016480"	"00000137"	"99"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(835C>T)"	"p.(Arg279Trp)"	"3"
"0000016481"	"00000137"	"99"	"906"	"0"	"907"	"0"	"c.906_907del"	"r.(?)"	"p.(Cys303*)"	"3"
"0000016482"	"00000137"	"99"	"1020"	"0"	"1022"	"0"	"c.1020_1022del"	"r.(?)"	"p.(Val341del)"	"3"
"0000016483"	"00000137"	"77"	"1157"	"0"	"1157"	"0"	"c.1157C>T"	"r.(1157c>u)"	"p.(Ala386Val)"	"3"
"0000016484"	"00000137"	"99"	"1242"	"0"	"1245"	"0"	"c.1242_1245del"	"r.(?)"	"p.(Asn415Argfs*44)"	"3"
"0000016485"	"00000137"	"99"	"1273"	"0"	"1273"	"0"	"c.1273A>G"	"r.(1273a>g)"	"p.(Asn425Asp)"	"3"
"0000016486"	"00000137"	"77"	"1361"	"0"	"1361"	"0"	"c.1361A>C"	"r.(1361a>c)"	"p.(Gln454Pro)"	"3"
"0000016487"	"00000137"	"99"	"1394"	"0"	"1394"	"0"	"c.1394del"	"r.(?)"	"p.(Leu465Cysfs*5)"	"3"
"0000016488"	"00000137"	"77"	"1451"	"0"	"1451"	"0"	"c.1451G>A"	"r.(1451g>a)"	"p.(Gly484Asp)"	"3"
"0000016489"	"00000137"	"77"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(1474c>u)"	"p.(Arg492Trp)"	"3"
"0000016490"	"00000137"	"99"	"1535"	"0"	"1535"	"0"	"c.1535C>A"	"r.1535c>a"	"p.Thr512Lys"	"3"
"0000016491"	"00000137"	"99"	"1650"	"0"	"1650"	"0"	"c.1650del"	"r.(?)"	"p.(Ser551Valfs*34)"	"3"
"0000016492"	"00000137"	"55"	"1721"	"0"	"1721"	"0"	"c.1721T>C"	"r.(1721u>c)"	"p.(Ile574Thr)"	"3"
"0000016493"	"00000137"	"99"	"1724"	"0"	"1724"	"0"	"c.1724del"	"r.(?)"	"p.(Lys575Serfs*10)"	"3"
"0000016494"	"00000137"	"77"	"1957"	"0"	"1957"	"0"	"c.1957T>A"	"r.(1957u>a)"	"p.(Cys653Ser)"	"3"
"0000016495"	"00000137"	"99"	"1976"	"0"	"1976"	"0"	"c.1976del"	"r.(?)"	"p.(Leu659*)"	"3"
"0000016496"	"00000137"	"99"	"1983"	"0"	"1983"	"0"	"c.1983del"	"r.(?)"	"p.(Ala662Glnfs*6)"	"3"
"0000016497"	"00000137"	"77"	"1994"	"0"	"1994"	"0"	"c.1994A>C"	"r.(1994a>c)"	"p.(His665Pro)"	"3"
"0000016498"	"00000137"	"99"	"2120"	"0"	"2121"	"0"	"c.2120_2121del"	"r.(2120_2121del)"	"p.(Leu707Profs*4)"	"3"
"0000130066"	"00000137"	"90"	"1448"	"0"	"1448"	"0"	"c.1448T>C"	"r.(?)"	"p.(Leu483Pro)"	""
"0000132544"	"00000137"	"70"	"1905"	"0"	"1905"	"0"	"c.1905del"	"r.(?)"	"p.(Met635Ilefs*15)"	"3"
"0000132545"	"00000137"	"70"	"344"	"0"	"344"	"0"	"c.344G>C"	"r.(?)"	"p.(Gly115Ala)"	"2"
"0000247897"	"00000137"	"10"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	""
"0000249875"	"00000137"	"10"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	""
"0000253099"	"00000137"	"10"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	""
"0000255571"	"00000137"	"90"	"1273"	"0"	"1273"	"0"	"c.1273A>G"	"r.(?)"	"p.(Asn425Asp)"	""
"0000298274"	"00000137"	"10"	"1721"	"0"	"1721"	"0"	"c.1721T>C"	"r.(?)"	"p.(Ile574Thr)"	""
"0000299517"	"00000137"	"10"	"1721"	"0"	"1721"	"0"	"c.1721T>C"	"r.(?)"	"p.(Ile574Thr)"	""
"0000299518"	"00000137"	"90"	"391"	"0"	"391"	"0"	"c.391del"	"r.(?)"	"p.(Leu131CysfsTer41)"	""
"0000302188"	"00000137"	"10"	"1721"	"0"	"1721"	"0"	"c.1721T>C"	"r.(?)"	"p.(Ile574Thr)"	""
"0000308325"	"00000137"	"30"	"-183"	"0"	"-183"	"0"	"c.-183G>C"	"r.(?)"	"p.(=)"	""
"0000308326"	"00000137"	"90"	"-26"	"2"	"-26"	"2"	"c.-26+2T>C"	"r.spl?"	"p.?"	""
"0000308327"	"00000137"	"90"	"1020"	"0"	"1022"	"0"	"c.1020_1022del"	"r.(?)"	"p.(Val341del)"	""
"0000308328"	"00000137"	"10"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Arg492Trp)"	""
"0000308329"	"00000137"	"90"	"1535"	"0"	"1535"	"0"	"c.1535C>A"	"r.(?)"	"p.(Thr512Lys)"	""
"0000308331"	"00000137"	"90"	"1806"	"0"	"1809"	"0"	"c.1806_1809del"	"r.(?)"	"p.(Thr603SerfsTer5)"	""
"0000308332"	"00000137"	"90"	"1957"	"0"	"1957"	"0"	"c.1957T>A"	"r.(?)"	"p.(Cys653Ser)"	""
"0000308333"	"00000137"	"90"	"2144"	"0"	"2144"	"0"	"c.2144C>T"	"r.(?)"	"p.(Ala715Val)"	""
"0000308334"	"00000137"	"30"	"474"	"0"	"474"	"0"	"c.474T>C"	"r.(?)"	"p.(Arg158=)"	""
"0000308335"	"00000137"	"90"	"532"	"0"	"532"	"0"	"c.532C>T"	"r.(?)"	"p.(Arg178Ter)"	""
"0000308336"	"00000137"	"90"	"776"	"0"	"776"	"0"	"c.776G>T"	"r.(?)"	"p.(Gly259Val)"	""
"0000308337"	"00000137"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Arg279Trp)"	""
"0000308338"	"00000137"	"50"	"931"	"0"	"931"	"0"	"c.931T>C"	"r.(?)"	"p.(Cys311Arg)"	""
"0000330662"	"00000137"	"50"	"1957"	"0"	"1957"	"0"	"c.1957T>A"	"r.(?)"	"p.(Cys653Ser)"	""
"0000473814"	"00000137"	"90"	"2155"	"0"	"2155"	"0"	"c.2155del"	"r.(?)"	"p.(Ala719Glnfs*16)"	"3"
"0000524805"	"00000137"	"30"	"229"	"0"	"229"	"0"	"c.229A>C"	"r.(?)"	"p.(Asn77His)"	""
"0000524806"	"00000137"	"70"	"294"	"0"	"294"	"0"	"c.294G>A"	"r.(?)"	"p.(Trp98Ter)"	""
"0000524807"	"00000137"	"50"	"299"	"0"	"299"	"0"	"c.299C>G"	"r.(?)"	"p.(Pro100Arg)"	""
"0000524808"	"00000137"	"90"	"532"	"0"	"532"	"0"	"c.532C>T"	"r.(?)"	"p.(Arg178Ter)"	""
"0000524810"	"00000137"	"50"	"782"	"0"	"782"	"0"	"c.782C>G"	"r.(?)"	"p.(Ser261Cys)"	""
"0000524811"	"00000137"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Arg279Trp)"	""
"0000524812"	"00000137"	"30"	"987"	"0"	"987"	"0"	"c.987T>C"	"r.(?)"	"p.(Leu329=)"	""
"0000524813"	"00000137"	"90"	"1435"	"0"	"1435"	"0"	"c.1435C>T"	"r.(?)"	"p.(Gln479Ter)"	""
"0000524814"	"00000137"	"30"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Arg492Trp)"	""
"0000524815"	"00000137"	"10"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Arg492Trp)"	""
"0000524816"	"00000137"	"50"	"1532"	"0"	"1532"	"0"	"c.1532A>T"	"r.(?)"	"p.(Asp511Val)"	""
"0000524817"	"00000137"	"10"	"1721"	"0"	"1721"	"0"	"c.1721T>C"	"r.(?)"	"p.(Ile574Thr)"	""
"0000524818"	"00000137"	"10"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	""
"0000524819"	"00000137"	"10"	"2220"	"0"	"2220"	"0"	"c.2220A>G"	"r.(?)"	"p.(Ter740=)"	""
"0000621505"	"00000137"	"50"	"1994"	"0"	"1994"	"0"	"c.1994A>C"	"r.(?)"	"p.(His665Pro)"	""
"0000651652"	"00000137"	"30"	"1474"	"0"	"1474"	"0"	"c.1474C>T"	"r.(?)"	"p.(Arg492Trp)"	""
"0000651653"	"00000137"	"50"	"1512"	"0"	"1512"	"0"	"c.1512G>A"	"r.(?)"	"p.(Met504Ile)"	""
"0000689461"	"00000137"	"50"	"1081"	"0"	"1081"	"0"	"c.1081G>A"	"r.(?)"	"p.(Ala361Thr)"	""
"0000720266"	"00000137"	"30"	"655"	"0"	"655"	"0"	"c.655A>G"	"r.(?)"	"p.(Ile219Val)"	""
"0000720267"	"00000137"	"30"	"1046"	"0"	"1046"	"0"	"c.1046T>A"	"r.(?)"	"p.(Phe349Tyr)"	""
"0000734424"	"00000137"	"70"	"2155"	"0"	"2155"	"0"	"c.2155del"	"r.(?)"	"p.(Ala719Glnfs*16)"	"3"
"0000801962"	"00000137"	"70"	"532"	"0"	"532"	"0"	"c.532C>T"	"r.(?)"	"p.(Arg178Ter)"	""
"0000801963"	"00000137"	"30"	"1460"	"0"	"1460"	"0"	"c.1460C>T"	"r.(?)"	"p.(Thr487Ile)"	""
"0000859817"	"00000137"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Arg279Trp)"	""
"0000873909"	"00000137"	"10"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	""
"0000873921"	"00000137"	"10"	"2065"	"0"	"2065"	"0"	"c.2065A>T"	"r.(?)"	"p.(Thr689Ser)"	""
"0000886682"	"00000137"	"30"	"1994"	"0"	"1994"	"0"	"c.1994A>C"	"r.(?)"	"p.(His665Pro)"	""
"0000886683"	"00000137"	"50"	"1994"	"0"	"1994"	"0"	"c.1994A>C"	"r.(?)"	"p.(His665Pro)"	""
"0000912262"	"00000137"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Arg279Trp)"	""
"0000912263"	"00000137"	"90"	"1724"	"0"	"1724"	"0"	"c.1724del"	"r.(?)"	"p.(Lys575Serfs*10)"	""
"0000924278"	"00000137"	"90"	"438"	"0"	"438"	"0"	"c.438dup"	"r.(?)"	"p.(Ala147Cysfs*28)"	""
"0000924279"	"00000137"	"50"	"833"	"0"	"833"	"0"	"c.833C>T"	"r.(?)"	"p.(Pro278Leu)"	""
"0000948509"	"00000137"	"70"	"1245"	"0"	"1245"	"0"	"c.1245C>A"	"r.(?)"	"p.(Asn415Lys)"	""
"0000976646"	"00000137"	"50"	"358"	"0"	"358"	"0"	"c.358A>C"	"r.(?)"	"p.(Ile120Leu)"	""
"0000976647"	"00000137"	"50"	"395"	"0"	"395"	"0"	"c.395T>C"	"r.(?)"	"p.(Leu132Pro)"	""
"0000976648"	"00000137"	"50"	"1252"	"0"	"1252"	"0"	"c.1252A>G"	"r.(?)"	"p.(Met418Val)"	""
"0000994775"	"00000137"	"70"	"485"	"0"	"486"	"0"	"c.485_486del"	"r.(?)"	"p.(Val162Glyfs*12)"	""
"0001014097"	"00000137"	"50"	"410"	"0"	"410"	"0"	"c.410C>T"	"r.(?)"	"p.(Pro137Leu)"	""
"0001014098"	"00000137"	"50"	"1414"	"0"	"1414"	"0"	"c.1414G>A"	"r.(?)"	"p.(Ala472Thr)"	""
"0001035014"	"00000137"	"50"	"339"	"0"	"339"	"0"	"c.339G>A"	"r.(?)"	"p.(Met113Ile)"	""
"0001035015"	"00000137"	"50"	"473"	"0"	"473"	"0"	"c.473G>A"	"r.(?)"	"p.(Arg158His)"	""
"0001035016"	"00000137"	"50"	"695"	"0"	"695"	"0"	"c.695A>T"	"r.(?)"	"p.(Tyr232Phe)"	""
"0001035017"	"00000137"	"90"	"835"	"0"	"835"	"0"	"c.835C>T"	"r.(?)"	"p.(Arg279Trp)"	""
"0001035018"	"00000137"	"70"	"1349"	"0"	"1349"	"0"	"c.1349G>A"	"r.(?)"	"p.(Gly450Asp)"	""
"0001035019"	"00000137"	"50"	"1540"	"0"	"1540"	"0"	"c.1540A>G"	"r.(?)"	"p.(Ile514Val)"	""
"0001035020"	"00000137"	"50"	"2121"	"0"	"2123"	"0"	"c.2121_2123del"	"r.(?)"	"p.(Leu708del)"	""
"0001052150"	"00000137"	"50"	"464"	"0"	"464"	"0"	"c.464G>A"	"r.(?)"	"p.(Gly155Asp)"	""
"0001052151"	"00000137"	"50"	"635"	"0"	"635"	"0"	"c.635G>T"	"r.(?)"	"p.(Cys212Phe)"	""
"0001052152"	"00000137"	"50"	"1744"	"0"	"1744"	"0"	"c.1744C>T"	"r.(?)"	"p.(Arg582Cys)"	""
"0001052153"	"00000137"	"50"	"1745"	"0"	"1745"	"0"	"c.1745G>A"	"r.(?)"	"p.(Arg582His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 41
"{{screeningid}}"	"{{variantid}}"
"0000000004"	"0000001071"
"0000000005"	"0000001072"
"0000000006"	"0000001075"
"0000000012"	"0000001064"
"0000000020"	"0000001073"
"0000000020"	"0000001088"
"0000000022"	"0000001077"
"0000000023"	"0000001080"
"0000000025"	"0000001067"
"0000000026"	"0000001081"
"0000000027"	"0000001082"
"0000000028"	"0000001087"
"0000000030"	"0000001090"
"0000000034"	"0000001061"
"0000000037"	"0000001062"
"0000000039"	"0000001070"
"0000000042"	"0000001078"
"0000000043"	"0000001079"
"0000000049"	"0000001089"
"0000000054"	"0000001065"
"0000000056"	"0000001083"
"0000000058"	"0000001058"
"0000000062"	"0000001086"
"0000000067"	"0000001057"
"0000000070"	"0000001069"
"0000000076"	"0000001084"
"0000000077"	"0000001068"
"0000000078"	"0000001076"
"0000000086"	"0000001066"
"0000000087"	"0000001091"
"0000000099"	"0000001074"
"0000000107"	"0000001085"
"0000080980"	"0000130066"
"0000081812"	"0000132544"
"0000081812"	"0000132545"
"0000294963"	"0000651652"
"0000294964"	"0000651653"
"0000335705"	"0000734424"
"0000360686"	"0000473814"
"0000415985"	"0000873909"
"0000415986"	"0000873921"