### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC26A3)
# 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}}"
"SLC26A3" "solute carrier family 26, member 3" "7" "q31" "unknown" "NG_008046.1" "UD_132118405196" "" "https://www.LOVD.nl/SLC26A3" "Finnish Disease Database (FinDis) " "1" "3018" "1811" "126650" "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 Juha Muilu acting as curator until 2015." "" "g" "https://databases.lovd.nl/shared/refseq/SLC26A3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2020-11-26 19:20:19" "00000" "2025-05-05 21:14:00"
## 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}}"
"00001768" "SLC26A3" "solute carrier family 26, member 3" "001" "NM_000111.2" "" "NP_000102.1" "" "" "" "-211" "2683" "2295" "107443678" "107405912" "00001" "2012-11-20 12:44:24" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00088" "DIAR1" "diarrhea, type 1, chloride, secretory, congenital (Finnish type, DIAR-1)" "AR" "214700" "" "" "" "00001" "2012-11-20 12:45:29" "00006" "2021-12-10 21:51:32"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"SLC26A3" "00088"
## Individuals ## Do not remove or alter this header ##
## Count = 71
"{{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}}"
"00000273" "" "" "" "1" "" "00001" "" "" "" "" "Qatar" "" "" "" "" "" ""
"00000274" "" "" "" "2" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Belgium" "" "" "" "" "" ""
"00000276" "" "" "" "3" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Hong Kong;China" "" "" "" "" "" ""
"00000277" "" "" "" "1" "" "00001" "" "" "" "" "Austria" "" "" "" "" "" ""
"00000278" "" "" "" "1" "" "00001" "" "" "" "" "Sweden" "" "" "" "" "" ""
"00000279" "" "" "" "2" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland" "" "" "" "" "" ""
"00000280" "" "" "" "6" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland;Sweden;Norway;China" "" "" "" "" "" ""
"00000281" "" "" "" "5" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland;Sweden;France" "" "" "" "" "" ""
"00000282" "" "" "" "1" "" "00001" "" "" "" "" "Austria" "" "" "" "" "" ""
"00000283" "" "" "" "1" "" "00001" "" "" "" "" "Austria" "" "" "" "" "" ""
"00000284" "" "" "" "3" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "United States" "" "" "" "" "" ""
"00000285" "" "" "" "1" "" "00001" "" "" "" "" "United States" "" "" "" "" "" ""
"00000286" "" "" "" "1" "" "00001" "" "" "" "" "United Kingdom (Great Britain)" "" "" "" "" "" ""
"00000287" "" "" "" "25" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Saudi Arabia;Kuwait;United Kingdom (Great Britain)" "" "" "" "" "" ""
"00000288" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Canada" "" "" "" "" "" ""
"00000289" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "United States" "" "" "" "" "" ""
"00000290" "" "" "" "1" "" "00001" "" "" "" "" "Spain" "" "" "" "" "" ""
"00000291" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Netherlands" "" "" "" "" "" ""
"00000292" "" "" "" "1" "" "00001" "" "" "" "" "Spain" "" "" "" "" "" ""
"00000293" "" "" "" "2" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Japan" "" "" "" "" "" ""
"00000294" "" "" "" "2" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland" "" "" "" "" "" ""
"00000296" "" "" "" "1" "" "00001" "" "" "" "" "France" "" "" "" "" "" ""
"00000297" "" "" "" "1" "" "00001" "" "" "" "" "Poland" "" "" "" "" "" ""
"00000298" "" "" "" "1" "" "00001" "" "" "" "" "United Kingdom (Great Britain)" "" "" "" "" "" ""
"00000299" "" "" "" "1" "" "00001" "" "" "" "" "Spain" "" "" "" "" "" ""
"00000300" "" "" "" "1" "" "00001" "" "" "" "" "Austria" "" "" "" "" "" ""
"00000301" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Netherlands" "" "" "" "" "" ""
"00000302" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland" "" "" "" "" "" ""
"00000303" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Japan" "" "" "" "" "" ""
"00000304" "" "" "" "1" "" "00001" "" "" "" "" "Canada" "" "" "" "" "" ""
"00000305" "" "" "" "3" "" "00001" "{PMID19861545:Choi 2009}" "" "" "" "Belgium;Turkey" "" "" "" "" "" ""
"00000306" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "United Kingdom (Great Britain)" "" "" "" "" "" ""
"00000307" "" "" "" "1" "" "00001" "" "" "" "" "France" "" "" "" "" "" ""
"00000308" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland" "" "" "" "" "" ""
"00000309" "" "" "" "2" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Germany" "" "" "" "" "" ""
"00000310" "" "" "" "3" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Hong Kong" "" "" "" "" "" ""
"00000311" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Kuwait" "" "" "" "" "" ""
"00000312" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland" "" "" "" "" "" ""
"00000313" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland" "" "" "" "" "" ""
"00000314" "" "" "" "1" "" "00001" "{PMID19861545:Choi 2009}" "" "" "" "Turkey" "" "" "" "" "" ""
"00000315" "" "" "" "2" "" "00001" "" "" "" "" "Sweden" "" "" "" "" "" ""
"00000316" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland" "" "" "" "" "" ""
"00000317" "" "" "" "1" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Canada" "" "" "" "" "" ""
"00000318" "" "" "" "1" "" "00001" "" "" "" "" "Turkey" "" "" "" "" "" ""
"00000319" "" "" "" "2" "" "00001" "{PMID:Mäkelä 2002:12442266}" "" "" "" "Viet Nam" "" "0" "" "" "" ""
"00000320" "" "" "" "4" "" "00001" "{PMID19861545:Choi 2009}" "" "" "" "Germany;Turkey" "" "" "" "" "" ""
"00000321" "" "" "" "1" "" "00001" "" "" "" "" "Sweden" "" "" "" "" "" ""
"00000322" "" "" "" "15" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Poland;Turkey" "" "" "" "" "" ""
"00000323" "" "" "" "2" "" "00001" "{PMID:Makela 2002:12442266}" "" "" "" "Norway" "" "" "" "" "" ""
"00000324" "" "" "" "1" "" "00001" "{PMID:Mäkelä et al 2002:12442266}" "" "" "" "Finland" "" "" "" "" "Finnish" ""
"00000326" "" "" "" "1" "" "00001" "" "" "" "" "Sweden" "" "" "" "" "" ""
"00000327" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000328" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000329" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000330" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000331" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000332" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000333" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000334" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000335" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000336" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000337" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000338" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000339" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000340" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000341" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000342" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00000343" "" "" "" "1" "" "00001" "" "" "" "" "" "" "" "" "" "" ""
"00018561" "" "" "" "1" "" "00754" "" "" "" "" "" "" "0" "" "" "" ""
"00104032" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-741A"
"00414471" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP138"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 71
"{{individualid}}" "{{diseaseid}}"
"00000273" "00088"
"00000274" "00088"
"00000276" "00088"
"00000277" "00088"
"00000278" "00088"
"00000279" "00088"
"00000280" "00088"
"00000281" "00088"
"00000282" "00088"
"00000283" "00088"
"00000284" "00088"
"00000285" "00088"
"00000286" "00088"
"00000287" "00088"
"00000288" "00088"
"00000289" "00088"
"00000290" "00088"
"00000291" "00088"
"00000292" "00088"
"00000293" "00088"
"00000294" "00088"
"00000296" "00088"
"00000297" "00088"
"00000298" "00088"
"00000299" "00088"
"00000300" "00088"
"00000301" "00088"
"00000302" "00088"
"00000303" "00088"
"00000304" "00088"
"00000305" "00088"
"00000306" "00088"
"00000307" "00088"
"00000308" "00088"
"00000309" "00088"
"00000310" "00088"
"00000311" "00088"
"00000312" "00088"
"00000313" "00088"
"00000314" "00088"
"00000315" "00088"
"00000316" "00088"
"00000317" "00088"
"00000318" "00088"
"00000319" "00088"
"00000320" "00088"
"00000321" "00088"
"00000322" "00088"
"00000323" "00088"
"00000324" "00088"
"00000326" "00088"
"00000327" "00088"
"00000328" "00088"
"00000329" "00088"
"00000330" "00088"
"00000331" "00088"
"00000332" "00088"
"00000333" "00088"
"00000334" "00088"
"00000335" "00088"
"00000336" "00088"
"00000337" "00088"
"00000338" "00088"
"00000339" "00088"
"00000340" "00088"
"00000341" "00088"
"00000342" "00088"
"00000343" "00088"
"00018561" "00088"
"00104032" "03381"
"00414471" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00088, 00198, 03381
## 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}}"
"0000000041" "00088" "00000324" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017295" "00088" "00018561" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081966" "03381" "00104032" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" ""
"0000306306" "00198" "00414471" "00000" "Familial, autosomal recessive" "4m" "" "" "" "" "" "" "" "" "" "Familial Chloride Diarrhea" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 71
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000285" "00000273" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000286" "00000274" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000288" "00000276" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000289" "00000277" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000290" "00000278" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000291" "00000279" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000292" "00000280" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000293" "00000281" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000294" "00000282" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000295" "00000283" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000296" "00000284" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000297" "00000285" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000298" "00000286" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000299" "00000287" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000300" "00000288" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000301" "00000289" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000302" "00000290" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000303" "00000291" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000304" "00000292" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000305" "00000293" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000306" "00000294" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000308" "00000296" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000309" "00000297" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000310" "00000298" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000311" "00000299" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000312" "00000300" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000313" "00000301" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000314" "00000302" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000315" "00000303" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000316" "00000304" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000317" "00000305" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000318" "00000306" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000319" "00000307" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000320" "00000308" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000321" "00000309" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000322" "00000310" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000323" "00000311" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000324" "00000312" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000325" "00000313" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000326" "00000314" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000327" "00000315" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000328" "00000316" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000329" "00000317" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000330" "00000318" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000331" "00000319" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000332" "00000320" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000333" "00000321" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000334" "00000322" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000335" "00000323" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000336" "00000324" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000338" "00000326" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000339" "00000327" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000340" "00000328" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000341" "00000329" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000342" "00000330" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000343" "00000331" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000344" "00000332" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000345" "00000333" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000346" "00000334" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000347" "00000335" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000348" "00000336" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000349" "00000337" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000350" "00000338" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000351" "00000339" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000352" "00000340" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000353" "00000341" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000354" "00000342" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000000355" "00000343" "1" "00001" "00001" "2012-02-28 09:49:45" "" "" "SEQ" "DNA" "" ""
"0000018545" "00018561" "1" "00754" "00754" "2014-07-22 16:11:51" "" "" "SEQ" "DNA" "Blood" ""
"0000104503" "00104032" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000415751" "00414471" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 70
"{{screeningid}}" "{{geneid}}"
"0000000285" "SLC26A3"
"0000000286" "SLC26A3"
"0000000288" "SLC26A3"
"0000000289" "SLC26A3"
"0000000290" "SLC26A3"
"0000000291" "SLC26A3"
"0000000292" "SLC26A3"
"0000000293" "SLC26A3"
"0000000294" "SLC26A3"
"0000000295" "SLC26A3"
"0000000296" "SLC26A3"
"0000000297" "SLC26A3"
"0000000298" "SLC26A3"
"0000000299" "SLC26A3"
"0000000300" "SLC26A3"
"0000000301" "SLC26A3"
"0000000302" "SLC26A3"
"0000000303" "SLC26A3"
"0000000304" "SLC26A3"
"0000000305" "SLC26A3"
"0000000306" "SLC26A3"
"0000000308" "SLC26A3"
"0000000309" "SLC26A3"
"0000000310" "SLC26A3"
"0000000311" "SLC26A3"
"0000000312" "SLC26A3"
"0000000313" "SLC26A3"
"0000000314" "SLC26A3"
"0000000315" "SLC26A3"
"0000000316" "SLC26A3"
"0000000317" "SLC26A3"
"0000000318" "SLC26A3"
"0000000319" "SLC26A3"
"0000000320" "SLC26A3"
"0000000321" "SLC26A3"
"0000000322" "SLC26A3"
"0000000323" "SLC26A3"
"0000000324" "SLC26A3"
"0000000325" "SLC26A3"
"0000000326" "SLC26A3"
"0000000327" "SLC26A3"
"0000000328" "SLC26A3"
"0000000329" "SLC26A3"
"0000000330" "SLC26A3"
"0000000331" "SLC26A3"
"0000000332" "SLC26A3"
"0000000333" "SLC26A3"
"0000000334" "SLC26A3"
"0000000335" "SLC26A3"
"0000000336" "SLC26A3"
"0000000338" "SLC26A3"
"0000000339" "SLC26A3"
"0000000340" "SLC26A3"
"0000000341" "SLC26A3"
"0000000342" "SLC26A3"
"0000000343" "SLC26A3"
"0000000344" "SLC26A3"
"0000000345" "SLC26A3"
"0000000346" "SLC26A3"
"0000000347" "SLC26A3"
"0000000348" "SLC26A3"
"0000000349" "SLC26A3"
"0000000350" "SLC26A3"
"0000000351" "SLC26A3"
"0000000352" "SLC26A3"
"0000000353" "SLC26A3"
"0000000354" "SLC26A3"
"0000000355" "SLC26A3"
"0000018545" "SLC26A3"
"0000415751" "SLC26A3"
## 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 = 160
"{{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}}"
"0000016500" "0" "55" "7" "107434821" "107434822" "ins" "0" "00001" "SLC26A3_000071" "g.107434821_107434822insU14569.1" "" "{PMID:Wedenoja 2011:21394828}" "" "" "Intron donor site change\r\nVariant Error [ESYNTAX]: This genomic variant has an error (char 37: Syntax error). Please fix this entry and then remove this message." "Unknown" "" "" "" "" "" "" "" "VUS" ""
"0000016501" "0" "55" "7" "107434303" "107434315" "del" "0" "00001" "SLC26A3_000001" "g.107434303_107434315del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107793858_107793870del" "" "VUS" ""
"0000016503" "0" "55" "7" "107434188" "107434189" "dup" "0" "00001" "SLC26A3_000003" "g.107434188_107434189dup" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107793743_107793744dup" "" "VUS" ""
"0000016504" "0" "55" "7" "107423797" "107434187" "del" "0" "00001" "SLC26A3_000072" "g.107423797_107434187del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "7 kb deletion; Exon 4 to 8 deletion\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "" "" "" "g.107783352_107793742del" "" "VUS" ""
"0000016505" "0" "55" "7" "107432329" "107432329" "del" "0" "00001" "SLC26A3_000004" "g.107432329del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791884del" "" "VUS" ""
"0000016506" "0" "55" "7" "107432313" "107432313" "del" "2.844E-5" "00001" "SLC26A3_000005" "g.107432313del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791868del" "" "VUS" ""
"0000016507" "0" "55" "7" "107432299" "107432299" "subst" "3.25053E-5" "00001" "SLC26A3_000006" "g.107432299C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791854C>T" "" "VUS" ""
"0000016508" "0" "55" "7" "107432286" "107432286" "subst" "0" "00001" "SLC26A3_000007" "g.107432286T>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791841T>A" "" "VUS" ""
"0000016509" "0" "55" "7" "107431677" "107431677" "subst" "1.62476E-5" "00001" "SLC26A3_000008" "g.107431677G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791232G>A" "" "VUS" ""
"0000016510" "0" "55" "7" "107431672" "107431672" "del" "0" "00001" "SLC26A3_000009" "g.107431672del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791227del" "" "VUS" ""
"0000016511" "0" "55" "7" "107431671" "107431671" "subst" "1.62472E-5" "00001" "SLC26A3_000010" "g.107431671G>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791226G>C" "" "VUS" ""
"0000016512" "0" "55" "7" "107431671" "107431671" "subst" "1.21854E-5" "00001" "SLC26A3_000011" "g.107431671G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791226G>A" "" "VUS" ""
"0000016513" "0" "55" "7" "107431655" "107431655" "subst" "0" "00001" "SLC26A3_000012" "g.107431655C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791210C>T" "" "VUS" ""
"0000016514" "0" "55" "7" "107431504" "107431504" "subst" "0" "00001" "SLC26A3_000013" "g.107431504C>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107791059C>A" "" "VUS" ""
"0000016515" "0" "55" "7" "107430135" "107430135" "subst" "3.29658E-5" "00001" "SLC26A3_000014" "g.107430135T>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107789690T>C" "" "VUS" ""
"0000016516" "0" "55" "7" "107430134" "107430134" "subst" "8.24076E-6" "00001" "SLC26A3_000015" "g.107430134C>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107789689C>A" "" "VUS" ""
"0000016517" "0" "55" "7" "107430094" "107430094" "subst" "0" "00001" "SLC26A3_000016" "g.107430094A>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107789649A>C" "" "VUS" ""
"0000016518" "0" "55" "7" "107430088" "107430088" "subst" "0" "00001" "SLC26A3_000017" "g.107430088A>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107789643A>G" "" "VUS" ""
"0000016519" "0" "55" "7" "107430045" "107430045" "subst" "0" "00001" "SLC26A3_000018" "g.107430045T>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107789600T>G" "" "VUS" ""
"0000016520" "0" "55" "7" "107423797" "107429969" "del" "0" "00001" "SLC26A3_000073" "g.107423797_107429969del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "3.5 kb deletion, Exon 7 to 8 deletion\r\nVariant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message." "Unknown" "" "" "" "" "" "g.107783352_107789524del" "" "VUS" ""
"0000016521" "0" "55" "7" "107427328" "107427328" "subst" "0" "00001" "SLC26A3_000019" "g.107427328G>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107786883G>T" "" "VUS" ""
"0000016523" "0" "55" "7" "107423741" "107423741" "subst" "0" "00001" "SLC26A3_000021" "g.107423741C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107783296C>T" "" "VUS" ""
"0000016524" "0" "55" "7" "107423722" "107423739" "delins" "0" "00001" "SLC26A3_000022" "g.107423722_107423739delinsGGCATC" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107783277_107783294delinsGGCATC" "" "VUS" ""
"0000016525" "0" "55" "7" "107423522" "107423522" "subst" "2.44125E-5" "00001" "SLC26A3_000023" "g.107423522C>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107783077C>G" "" "VUS" ""
"0000016526" "0" "55" "7" "107423510" "107423511" "del" "0" "00001" "SLC26A3_000024" "g.107423510_107423511del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107783065_107783066del" "" "VUS" ""
"0000016527" "0" "55" "7" "107423465" "107423465" "subst" "3.25455E-5" "00001" "SLC26A3_000025" "g.107423465G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107783020G>A" "" "VUS" ""
"0000016528" "0" "55" "7" "107423247" "107423247" "subst" "0" "00001" "SLC26A3_000026" "g.107423247G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107782802G>A" "" "VUS" ""
"0000016529" "0" "55" "7" "107420209" "107420209" "subst" "0" "00001" "SLC26A3_000027" "g.107420209C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779764C>T" "" "VUS" ""
"0000016530" "0" "55" "7" "107420177" "107420178" "del" "0" "00001" "SLC26A3_000028" "g.107420177_107420178del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779732_107779733del" "" "VUS" ""
"0000016531" "0" "55" "7" "107420160" "107420160" "subst" "0" "00001" "SLC26A3_000029" "g.107420160G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779715G>A" "" "VUS" ""
"0000016532" "0" "55" "7" "107420158" "107420158" "del" "0" "00001" "SLC26A3_000030" "g.107420158del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779713del" "" "VUS" ""
"0000016533" "0" "55" "7" "107420134" "107420134" "subst" "4.0708E-6" "00001" "SLC26A3_000031" "g.107420134C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779689C>T" "" "VUS" ""
"0000016534" "0" "55" "7" "107420133" "107420133" "subst" "4.07143E-6" "00001" "SLC26A3_000032" "g.107420133G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779688G>A" "" "VUS" ""
"0000016535" "0" "55" "7" "107420117" "107420117" "subst" "0" "00001" "SLC26A3_000033" "g.107420117T>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779672T>A" "" "VUS" ""
"0000016536" "0" "55" "7" "107418727" "107418727" "subst" "0" "00001" "SLC26A3_000034" "g.107418727C>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107778282C>G" "" "VUS" ""
"0000016537" "0" "55" "7" "107418647" "107418647" "subst" "0" "00001" "SLC26A3_000035" "g.107418647A>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107778202A>C" "" "VUS" ""
"0000016538" "0" "55" "7" "107417153" "107417153" "del" "0" "00001" "SLC26A3_000036" "g.107417153del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776708del" "" "VUS" ""
"0000016539" "0" "55" "7" "107417150" "107417150" "del" "0" "00001" "SLC26A3_000037" "g.107417150del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776705del" "" "VUS" ""
"0000016540" "0" "55" "7" "107417115" "107417118" "del" "0" "00001" "SLC26A3_000038" "g.107417115_107417118del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776670_107776673del" "" "VUS" ""
"0000016541" "0" "55" "7" "107417107" "107417107" "subst" "0" "00001" "SLC26A3_000039" "g.107417107T>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776662T>C" "" "VUS" ""
"0000016542" "0" "55" "7" "107417103" "107417103" "subst" "0" "00001" "SLC26A3_000040" "g.107417103C>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776658C>G" "" "VUS" ""
"0000016543" "0" "55" "7" "107417090" "107417092" "del" "0" "00001" "SLC26A3_000041" "g.107417090_107417092del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776645_107776647del" "" "VUS" ""
"0000016544" "0" "55" "7" "107416968" "107416968" "del" "0" "00001" "SLC26A3_000042" "g.107416968del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776523del" "" "VUS" ""
"0000016545" "0" "55" "7" "107416948" "107416950" "ins" "0" "00001" "SLC26A3_000043" "g.107416948_107416950delinsG" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776503_107776505delinsG" "" "VUS" ""
"0000016546" "0" "55" "7" "107416943" "107416943" "subst" "0" "00001" "SLC26A3_000044" "g.107416943A>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107776498A>T" "" "VUS" ""
"0000016547" "0" "55" "7" "107414418" "107414418" "subst" "4.06616E-6" "00001" "SLC26A3_000045" "g.107414418C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107773973C>T" "" "VUS" ""
"0000016548" "0" "55" "7" "107414382" "107414382" "del" "0" "00001" "SLC26A3_000046" "g.107414382del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107773937del" "" "VUS" ""
"0000016549" "0" "55" "7" "107412536" "107412538" "dup" "0" "00001" "SLC26A3_000047" "g.107412536_107412538dup" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107772091_107772093dup" "" "VUS" ""
"0000016550" "0" "55" "7" "107408311" "107408312" "delins" "0" "00001" "SLC26A3_000049" "g.107408311_107408312delins29" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" ""
"0000016551" "0" "97" "7" "107408303" "107408303" "del" "0" "00001" "SLC26A3_000050" "g.107408303del" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107767858del" "" "pathogenic" ""
"0000016553" "0" "55" "7" "107408208" "107408208" "subst" "4.0709E-6" "00001" "SLC26A3_000052" "g.107408208T>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107767763T>C" "" "VUS" ""
"0000016554" "0" "55" "7" "107434836" "107434836" "subst" "0" "00001" "SLC26A3_000053" "g.107434836T>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs78133952" "" "" "" "g.107794391T>C" "" "VUS" ""
"0000016555" "0" "55" "7" "107434255" "107434255" "subst" "0.00292025" "00001" "SLC26A3_000054" "g.107434255C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs10280704" "" "" "" "g.107793810C>T" "" "VUS" ""
"0000016556" "0" "55" "7" "107432325" "107432325" "subst" "0" "00001" "SLC26A3_000055" "g.107432325A>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs75733585" "" "" "" "g.107791880A>G" "" "VUS" ""
"0000016557" "0" "55" "7" "107432300" "107432300" "subst" "0.00171869" "00001" "SLC26A3_000056" "g.107432300G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs73419912" "" "" "" "g.107791855G>A" "" "VUS" ""
"0000016558" "0" "55" "7" "107431549" "107431549" "subst" "3.65542E-5" "00001" "SLC26A3_000057" "g.107431549C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs71566741" "" "" "" "g.107791104C>T" "" "VUS" ""
"0000016559" "0" "55" "7" "107427322" "107427322" "subst" "0.0415271" "00001" "SLC26A3_000058" "g.107427322A>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs34407351" "" "" "" "g.107786877A>C" "" "VUS" ""
"0000016560" "0" "55" "7" "107427320" "107427320" "subst" "0" "00001" "SLC26A3_000059" "g.107427320T>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs80222394" "" "" "" "g.107786875T>C" "" "VUS" ""
"0000016561" "0" "55" "7" "107427293" "107427293" "subst" "0" "00001" "SLC26A3_000060" "g.107427293A>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs78983942" "" "" "" "g.107786848A>C" "" "VUS" ""
"0000016562" "0" "55" "7" "107423773" "107423773" "subst" "0.0087755" "00001" "SLC26A3_000061" "g.107423773G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs35576676" "" "" "" "g.107783328G>A" "" "VUS" ""
"0000016563" "0" "55" "7" "107423254" "107423254" "subst" "0.158539" "00001" "SLC26A3_000062" "g.107423254C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs3735605" "" "" "" "g.107782809C>T" "" "VUS" ""
"0000016564" "0" "55" "7" "107420206" "107420206" "subst" "0.00591304" "00001" "SLC26A3_000063" "g.107420206G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "" "" "" "" "g.107779761G>A" "" "VUS" ""
"0000016565" "0" "55" "7" "107417137" "107417137" "subst" "0.00180696" "00001" "SLC26A3_000064" "g.107417137G>A" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs60147601" "" "" "" "g.107776692G>A" "" "VUS" ""
"0000016566" "0" "55" "7" "107416913" "107416913" "subst" "0.00240308" "00001" "SLC26A3_000065" "g.107416913C>T" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs2301635" "" "" "" "g.107776468C>T" "" "VUS" ""
"0000016567" "0" "55" "7" "107414570" "107414570" "subst" "0.00169307" "00001" "SLC26A3_000066" "g.107414570A>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs35776303" "" "" "" "g.107774125A>G" "" "VUS" ""
"0000016568" "0" "55" "7" "107414419" "107414419" "subst" "0.99394" "00001" "SLC26A3_000067" "g.107414419A>G" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs41669" "" "" "" "g.107773974A>G" "" "VUS" ""
"0000016569" "0" "55" "7" "107412523" "107412523" "dup" "0" "00001" "SLC26A3_000068" "g.107412523dup" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs35617203" "" "" "" "g.107772078dup" "" "VUS" ""
"0000016570" "0" "55" "7" "107408037" "107408037" "subst" "0.00196602" "00001" "SLC26A3_000069" "g.107408037T>C" "" "{PMID:Wedenoja 2011:21394828}" "" "" "" "Unknown" "" "rs35342296" "" "" "" "g.107767592T>C" "" "VUS" ""
"0000016741" "0" "77" "7" "107423741" "107423741" "subst" "0" "00015" "SLC26A3_000021" "g.107423741C>T" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1028G>A" "1 French DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107783296C>T" "" "likely pathogenic" ""
"0000016742" "0" "77" "7" "107423722" "107423739" "delins" "0" "00015" "SLC26A3_000022" "g.107423722_107423739delinsGGCATC" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1030_1047delinsGATGCC" "1 Polish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107783277_107783294delinsGGCATC" "" "likely pathogenic" ""
"0000016743" "0" "77" "7" "107423522" "107423522" "subst" "2.44125E-5" "00015" "SLC26A3_000023" "g.107423522C>G" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1136G>C" "1 British DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107783077C>G" "" "likely pathogenic" ""
"0000016744" "11" "99" "7" "107423510" "107423511" "del" "0" "00015" "SLC26A3_000080" "g.107423510_107423511del" "" "{PMID:Rodriques-Herrera et al. 2011: 21150650}, {PMID:Wedenoja et al. 2011:21394828}" "" "deletion at 1148–1149 of a TA dinucleotide: frameshift, truncated protein product 455 amino acids long" "2 Andalusian (southern Spain) sibs (com-het) and 1 Spanish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107783065_107783066del" "" "pathogenic" ""
"0000016745" "0" "77" "7" "107423465" "107423465" "subst" "3.25455E-5" "00015" "SLC26A3_000025" "g.107423465G>A" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1193C>T" "1 Austrian DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107783020G>A" "" "likely pathogenic" ""
"0000016746" "0" "77" "7" "107423247" "107423247" "subst" "0" "00015" "SLC26A3_000026" "g.107423247G>A" "0/132 CON" "{PMID:Höglung et al. 2001b:11524734}" "" "c.1306C>T" "1 Dutch DIAR1 patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.107782802G>A" "" "likely pathogenic" ""
"0000016747" "0" "77" "7" "107434821" "107434822" "" "0" "00015" "SLC26A3_000083" "g.107434821_107434822ins288" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.131+2_131+3insU14569.1" "1 Qatar DIAR1 patient; 288 bp sequence U14569.1 (genebank no) is inserted between bases c.131+2 and c.131+3" "SUMMARY record" "yes" "" "" "" "" "" "" "likely pathogenic" ""
"0000016748" "0" "77" "7" "107420209" "107420209" "subst" "0" "00015" "SLC26A3_000027" "g.107420209C>T" "" "{PMID:Höglung et al. 1998b:9718329}" "" "IVS11-1G>A" "1 Polish DIAR1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107779764C>T" "" "likely pathogenic" ""
"0000016749" "0" "77" "7" "107420177" "107420178" "del" "0" "00015" "SLC26A3_000028" "g.107420177_107420178del" "" "{PMID:Makela et al. 2002:12442266}" "" "c.1342_1343del" "1 Japanese DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107779732_107779733del" "" "likely pathogenic" ""
"0000016750" "0" "77" "7" "107420160" "107420160" "subst" "0" "00015" "SLC26A3_000029" "g.107420160G>A" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1360C>T" "1 Canadian DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107779715G>A" "" "likely pathogenic" ""
"0000016751" "0" "77" "7" "107420158" "107420158" "del" "0" "00015" "SLC26A3_000030" "g.107420158del" "" "{PMID:Choi et al. 2009:19861545}, {PMID:Wedenoja et al. 2011:21394828}" "" "c.1362del" "3 DIAR1 patients (Belgium, Turkey)" "SUMMARY record" "yes" "" "" "" "" "g.107779713del" "" "likely pathogenic" ""
"0000016752" "0" "77" "7" "107420134" "107420134" "subst" "4.0708E-6" "00015" "SLC26A3_000031" "g.107420134C>T" "" "{PMID:Makela et al. 2002:12442266}" "" "" "1 British DIAR1 family (Arabic ancestry; hom)" "SUMMARY record" "yes" "" "" "" "" "g.107779689C>T" "" "likely pathogenic" ""
"0000016753" "0" "77" "7" "107420133" "107420133" "subst" "4.07143E-6" "00015" "SLC26A3_000032" "g.107420133G>A" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1387C>T" "1 French DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107779688G>A" "" "likely pathogenic" ""
"0000016754" "0" "77" "7" "107420117" "107420117" "subst" "0" "00015" "SLC26A3_000033" "g.107420117T>A" "0/48 CON" "{PMID:Höglung et al. 2001b:11524734}" "" "c.1403A>T" "1 Polish DIAR1 patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107779672T>A" "" "likely pathogenic" ""
"0000016755" "0" "77" "7" "107418727" "107418727" "subst" "0" "00015" "SLC26A3_000091" "g.107418727C>T" "0/116 CON" "{PMID:Höglung et al. 2001b:11524734}" "" "IVS12-1G>C" "2 German (Palestinian) sibs (hom) with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107778282C>T" "" "likely pathogenic" ""
"0000016756" "3" "77" "7" "107434303" "107434315" "del" "0" "00015" "SLC26A3_000001" "g.107434303_107434315del" "" "{PMID:Makela et al. 2002:12442266}" "" "c.145-157del13bp" "2 Belgian siblings (Togo ancestry; hom) with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107793858_107793870del" "" "likely pathogenic" ""
"0000016757" "0" "77" "7" "107418647" "107418647" "subst" "0" "00015" "SLC26A3_000035" "g.107418647A>C" "" "{PMID:Höglung et al. 1998b:9718329}" "" "" "3 sisters from Hong Kong (com-het) with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107778202A>C" "" "likely pathogenic" ""
"0000016758" "0" "77" "7" "107417153" "107417153" "del" "0" "00015" "SLC26A3_000094" "g.107417153del" "0/77 CON" "{PMID:Höglung et al. 2001b:11524734}" "" "IVS13-2delA" "1 Kuwaiti DIAR1 patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.107776708del" "" "likely pathogenic" ""
"0000016759" "0" "77" "7" "107417150" "107417150" "del" "0" "00015" "SLC26A3_000095" "g.107417150del" "" "{PMID:Höglung et al. 1998:9554749}" "" "c.1516delC" "1 Polish DIAR1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107776705del" "" "likely pathogenic" ""
"0000016760" "0" "77" "7" "107417139" "107417140" "del" "0" "00015" "SLC26A3_000096" "g.107417139_107417140del" "" "{PMID:Etani et al. 1998:10671059" "" "1526-1527delTT at codon 509: frameshift and permature stop at codon 517 (no TT in this or nearby position)" "1 Japanese DIAR1 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.107776694_107776695del" "" "likely pathogenic" ""
"0000016761" "0" "77" "7" "107417115" "107417118" "del" "0" "00015" "SLC26A3_000097" "g.107417115_107417118del" "" "{PMID:Höglung et al. 1998:9554749}" "" "c.1548-1551delAACC" "1 Polish DIAR1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107776670_107776673del" "" "likely pathogenic" ""
"0000016762" "0" "77" "7" "107417107" "107417107" "subst" "0" "00015" "SLC26A3_000039" "g.107417107T>C" "" "{PMID:Choi et al. 2009:19861545}" "" "c.1559A>G" "1 Turkish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107776662T>C" "" "likely pathogenic" ""
"0000016763" "0" "77" "7" "107417103" "107417103" "subst" "0" "00015" "SLC26A3_000040" "g.107417103C>G" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1563G>C" "2 Swedish DIAR1 patients" "SUMMARY record" "yes" "" "" "" "" "g.107776658C>G" "" "likely pathogenic" ""
"0000016764" "0" "77" "7" "107417090" "107417092" "del" "0" "00015" "SLC26A3_000100" "g.107417090_107417092del" "" "{PMID:Höglung et al. 1998:9554749}" "" "c.1578-1580delTTA" "1 Polish DIAR1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107776645_107776647del" "" "likely pathogenic" ""
"0000016765" "0" "77" "7" "107416968" "107416968" "del" "0" "00015" "SLC26A3_000042" "g.107416968del" "0/142 CON" "{PMID:Höglung et al. 1998b:9718329}" "" "c.1609delA" "1 North American/Canadian DIAR1 patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107776523del" "" "likely pathogenic" ""
"0000016766" "0" "77" "7" "107416948" "107416950" "delins" "0" "00015" "SLC26A3_000043" "g.107416948_107416950delinsG" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1624_1626delinsC" "1 Turkish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107776503_107776505delinsG" "" "likely pathogenic" ""
"0000016767" "3" "77" "7" "107416943" "107416943" "subst" "0" "00015" "SLC26A3_000044" "g.107416943A>T" "" "{PMID:Höglung et al. 2001:11302976}" "" "" "2 Vietnamese siblings (hom) with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107776498A>T" "" "likely pathogenic" ""
"0000016768" "0" "77" "7" "107434284" "107434284" "dup" "0" "00015" "SLC26A3_000104" "g.107434284dup" "" "{PMID:Höglung et al. 1998:9554749}" "" "c.177-178insC" "1 North American DIAR1 patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107793839dup" "" "likely pathogenic" ""
"0000016769" "0" "77" "7" "107414418" "107414418" "subst" "4.06616E-6" "00015" "SLC26A3_000045" "g.107414418C>T" "" "{PMID:Choi et al. 2009:19861545}, {PMID:Wedenoja et al. 2011:21394828}" "" "c.1954G>A" "2 Turkish (hom) and 2 German DIAR1 patients" "SUMMARY record" "yes" "" "" "" "" "g.107773973C>T" "" "likely pathogenic" ""
"0000016770" "0" "77" "7" "107414382" "107414382" "del" "0" "00015" "SLC26A3_000046" "g.107414382del" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.1990del" "1 Swedish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107773937del" "" "likely pathogenic" ""
"0000016771" "0" "77" "7" "107412536" "107412538" "dup" "0" "00015" "SLC26A3_000047" "g.107412536_107412538dup" "" "{PMID:Höglung et al. 1998b:9718329}, {PMID:Hosnut et al. 2010:21332001}" "" "c.2025_2026insATC: I675–676ins" "Polish Major DIAR1 mutation. 12 Polish DIAR1 families (4 hom and 8 com-het) and 1 Turkish DIAR1 patient." "SUMMARY record" "yes" "" "" "" "" "g.107772091_107772093dup" "" "likely pathogenic" ""
"0000016772" "0" "77" "7" "107408354" "107408354" "subst" "3.68753E-5" "00015" "SLC26A3_000108" "g.107408354C>A" "" "{PMID:Lee et al 2012:22779076}, {PMID:Hong et al. 2013:23274434}" "" "a splice site mutation in the consensus acceptor site of intron 18: c.2063-1G>T" "9 Korean DIAR1 patients (4 hom and 5 com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.107767909C>A" "" "likely pathogenic" ""
"0000016773" "0" "77" "7" "107408311" "107408312" "delins" "0" "00015" "SLC26A3_000109" "g.107408311_107408312delinsAAATTTTGAATTTTCACTTCAAAACCGGT" "" "{PMID:Höglung et al. 2001b:11524734}" "" "c.2104-2105delGGins29bp (ACCGGTTTTGAAGTGAAAATTCAAAATTT).): G702Tins9" "2 Norwegian siblings (com-het) with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107767866_107767867delinsAAATTTTGAATTTTCACTTCAAAACCGGT" "" "likely pathogenic" ""
"0000016774" "0" "77" "7" "107443556" "107443678" "" "0" "00015" "SLC26A3_000110" "g.(?_107443556)_(107443678_?)del" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "8.6 kb deletion: Exon 1 deletion" "1 Swedish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107803111_107803233del" "" "likely pathogenic" ""
"0000016775" "0" "77" "7" "107408303" "107408303" "del" "0" "00015" "SLC26A3_000111" "g.107408303del" "0/80 CON" "{PMID:Höglung et al. 1998:9554749}" "" "c.2116delA" "1 Finnish DIAR1 family (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107767858del" "" "likely pathogenic" ""
"0000016776" "3" "77" "7" "107408284" "107408284" "subst" "0" "00015" "SLC26A3_000112" "g.107408284A>C" "" "{PMID:Heinz-Erian et al. 2008:18728535}" "" "c.2132T>G: p.L711X" "1 Tyrolean DIAR1 family (hom)" "SUMMARY record" "yes" "" "" "" "" "g.107767839A>C" "" "likely pathogenic" ""
"0000016777" "0" "77" "7" "107408208" "107408208" "subst" "4.0709E-6" "00015" "SLC26A3_000052" "g.107408208T>C" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.2205+3A>G" "1 Swedish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107767763T>C" "" "likely pathogenic" ""
"0000016778" "21" "77" "7" "107434188" "107434189" "dup" "0" "00015" "SLC26A3_000003" "g.107434188_107434189dup" "" "{PMID:Höglung et al. 1998b:9718329}" "" "c.268-269insAA" "3 sisters from Hong Kong (com-het) with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107793743_107793744dup" "" "likely pathogenic" ""
"0000016779" "0" "77" "7" "107427272" "107432385" "" "0" "00015" "SLC26A3_000115" "g.(?_107427272)_(107432385_?)del" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "7 kb deletion: Exon 4 to 8 deletion" "1 Austrian DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107786827_107791940del" "" "likely pathogenic" ""
"0000016780" "0" "77" "7" "107432329" "107432329" "del" "0" "00015" "SLC26A3_000004" "g.107432329del" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.332del" "1 Swedish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107791884del" "" "likely pathogenic" ""
"0000016781" "0" "77" "7" "107432313" "107432313" "del" "2.844E-5" "00015" "SLC26A3_000117" "g.107432313del" "0/159 CON" "{PMID:Höglung et al. 1996:8896562}" "" "c.344delT" "2 Polish DIAR1 families ( 1 hom and 1 het)" "SUMMARY record" "yes" "" "" "" "" "g.107791868del" "" "likely pathogenic" ""
"0000016782" "0" "77" "7" "107432299" "107432299" "subst" "3.25053E-5" "00015" "SLC26A3_000006" "g.107432299C>T" "0/100 CON" "{PMID:Höglung et al. 1998:9554749}, {PMID:Höglung et al. 2001b:11524734}" "" "c.358G>A" "1 Polish, 1 Swedish and 1 Norwegian DIAR1 family (all com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107791854C>T" "" "likely pathogenic" ""
"0000016783" "0" "77" "7" "107432286" "107432286" "subst" "0" "00015" "SLC26A3_000007" "g.107432286T>A" "" "{PMID:Höglung et al. 1996:8896562}, {PMID:Makela et al. 2002:12442266}, {PMID:Wedenoja et al. 2011:21394828}" "" "c.371A>T" "3 Polish (2 com-het) and 1 French DIAR1 family" "SUMMARY record" "yes" "" "" "" "" "g.107791841T>A" "" "likely pathogenic" ""
"0000016784" "0" "77" "7" "107431677" "107431677" "subst" "1.62476E-5" "00015" "SLC26A3_000008" "g.107431677G>A" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.386C>T" "1 Austrian DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107791232G>A" "" "likely pathogenic" ""
"0000016785" "0" "77" "7" "107431671" "107431671" "subst" "1.62472E-5" "00015" "SLC26A3_000010" "g.107431671G>C" "" "{PMID:Höglung et al. 1998:9554749}" "" "c.392C>A" "2 North American DIAR1 patients (1 com-het and 1 het)" "SUMMARY record" "yes" "" "" "" "" "g.107791226G>C" "" "likely pathogenic" ""
"0000016786" "0" "77" "7" "107431671" "107431671" "subst" "1.21854E-5" "00015" "SLC26A3_000011" "g.107431671G>A" "" "{PMID:Wedenoja et al. 2011:21394828}, {PMID:Hong et al. 2013:23274434}" "" "c.392C>T" "1 American DIAR1 patient and 2 Korean siblings with DIAR1" "SUMMARY record" "yes" "" "0" "" "" "g.107791226G>A" "" "likely pathogenic" ""
"0000016787" "0" "77" "7" "107431672" "107431672" "del" "0" "00015" "SLC26A3_000009" "g.107431672del" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.392del" "1 Austrian DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107791227del" "" "likely pathogenic" ""
"0000016788" "0" "77" "7" "107431655" "107431655" "subst" "0" "00015" "SLC26A3_000012" "g.107431655C>T" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.408G>A" "1 English DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107791210C>T" "" "likely pathogenic" ""
"0000016789" "21" "77" "7" "107431538" "107431538" "subst" "0" "00015" "SLC26A3_000125" "g.107431538C>G" "0/188 CON" "{PMID:Lee et al 2012:22779076}" "" "c.525G>C: p.Arg175 Ser" "1 Korean DIAR1 patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107791093C>G" "" "likely pathogenic" ""
"0000016790" "0" "77" "7" "107431504" "107431504" "subst" "0" "00015" "SLC26A3_000013" "g.107431504C>A" "" "{PMID:Höglung et al. 1998b:9718329}, {PMID:Wedenoja et al. 2011:21394828}" "" "c.559G>T" "Arabic major DIAR1 mutation: >20 Kuwaiti and Saudi Arabian DIAR1 patients. Also patient from UK." "SUMMARY record" "yes" "" "" "" "" "g.107791059C>A" "" "likely pathogenic" ""
"0000016791" "0" "77" "7" "107430134" "107430134" "subst" "8.24076E-6" "00015" "SLC26A3_000015" "g.107430134C>A" "" "{PMID:Höglung et al. 1998b:9718329}" "" "IVS5-1G>T" "1 North American DIAR1 patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107789689C>A" "" "likely pathogenic" ""
"0000016792" "0" "77" "7" "107430135" "107430135" "subst" "3.29658E-5" "00015" "SLC26A3_000014" "g.107430135T>C" "" "{PMID:Höglung et al. 1998b:9718329}" "" "IVS5-2A>G" "1 Canadian DIAR1 patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107789690T>C" "" "likely pathogenic" ""
"0000016793" "0" "77" "7" "107430094" "107430094" "subst" "0" "00015" "SLC26A3_000016" "g.107430094A>C" "" "{PMID:Wedenoja et al. 2011:21394828}" "" "c.610T>G" "1 Spanish DIAR1 patient" "SUMMARY record" "yes" "" "" "" "" "g.107789649A>C" "" "likely pathogenic" ""
"0000016794" "3" "77" "7" "107430088" "107430088" "subst" "0" "00015" "SLC26A3_000017" "g.107430088A>G" "" "{PMID:Höglung et al. 2001b:11524734}" "" "c.616A>C: S206P" "1 Dutch DIAR1 family (Moroccan ancestry)" "SUMMARY record" "yes" "" "" "" "" "g.107789643A>G" "" "likely pathogenic" ""
"0000016795" "21" "77" "7" "107430045" "107430045" "subst" "0" "00015" "SLC26A3_000018" "g.107430045T>G" "" "{PMID:Rodriques-Herrera et al. 2011: 21150650}, {PMID:Wedenoja et al. 2011:21394828}" "" "659A>C" "2 Andalusian (southern Spain) sibs (com-het) and 1 Spanish patient with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107789600T>G" "" "likely pathogenic" ""
"0000016796" "0" "77" "7" "107427272" "107427954" "del" "0" "00015" "SLC26A3_000132" "g.(?_107427272)_(107427954_?)del" "" "{PMID:Höglung et al. 2001b:11524734}" "" "3.5 kb genomic deletion: EX7-8del" "2 Japanese siblings (hom) with DIAR1" "SUMMARY record" "yes" "" "" "" "" "g.107786827_107787509del" "" "likely pathogenic" ""
"0000016797" "0" "77" "7" "107427328" "107427328" "subst" "0" "00015" "SLC26A3_000019" "g.107427328G>T" "" "{PMID:Höglung et al. 1998:9554749}" "" "Y305X" "2 Polish DIAR1 families ( 1 hom and 1 com-het)" "SUMMARY record" "yes" "" "" "" "" "g.107786883G>T" "" "likely pathogenic" ""
"0000016798" "0" "99" "7" "107427292" "107427294" "del" "0" "00015" "SLC26A3_000134" "g.107427292_107427294del" "3/436 FIN (het)" "{PMID:Höglung et al. 1996:8896562}, {PMID:Wedenoja et al. 2011:21394828}" "" "c.951delGGT" "Finnish major DIAR1 mutation. 45 Finnish (and Swedish) DIAR1 patients" "SUMMARY record" "yes" "" "" "" "" "g.107786847_107786849del" "" "pathogenic" ""
"0000018267" "0" "77" "7" "107423719" "107423719" "subst" "0" "00015" "SLC26A3_000135" "g.107423719T>G" "" "{PMID:Hong et al. 2013:23274434}" "" "" "1 Korean DIAR1 patient (com-het)\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "SUMMARY record" "yes" "" "0" "" "" "g.107783274T>G" "" "likely pathogenic" ""
"0000018268" "0" "77" "7" "107431662" "107431662" "subst" "0" "00015" "SLC26A3_000136" "g.107431662C>T" "" "{PMID:Hong et al. 2013:23274434}" "" "r.(401g>a)" "1 Korean DIAR1 patient (com-het)" "SUMMARY record" "yes" "" "0" "" "" "g.107791217C>T" "" "likely pathogenic" ""
"0000039018" "3" "90" "7" "107427268" "107427269" "del" "0" "00754" "SLC26A3_000137" "g.107427268_107427269del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.107786823_107786824del" "" "pathogenic" ""
"0000039019" "3" "90" "7" "107429967" "107429970" "del" "0" "00754" "SLC26A3_000138" "g.107429967_107429970del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.107789522_107789525del" "" "pathogenic" ""
"0000169413" "0" "70" "7" "107434294" "107434295" "del" "0" "00587" "SLC26A3_000139" "g.107434294_107434295del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_000111.2(SLC26A3):c.167_168del p.(Ser56Phefs*14)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.107793849_107793850del" "" "likely pathogenic" ""
"0000248586" "0" "10" "7" "107414419" "107414419" "subst" "0.99394" "02325" "SLC26A3_000067" "g.107414419A>G" "" "" "" "SLC26A3(NM_000111.3):c.1953T>C (p.L651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107773974A>G" "" "benign" ""
"0000308339" "0" "30" "7" "107423752" "107423752" "subst" "2.03411E-5" "01943" "SLC26A3_000141" "g.107423752G>A" "" "" "" "SLC26A3(NM_000111.2):c.1017C>T (p.T339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107783307G>A" "" "likely benign" ""
"0000308340" "0" "10" "7" "107432300" "107432300" "subst" "0.00171869" "01943" "SLC26A3_000056" "g.107432300G>A" "" "" "" "SLC26A3(NM_000111.2):c.357C>T (p.F119=), SLC26A3(NM_000111.3):c.357C>T (p.(Phe119=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107791855G>A" "" "benign" ""
"0000308341" "0" "50" "7" "107431527" "107431527" "subst" "4.8765E-5" "01943" "SLC26A3_000142" "g.107431527G>A" "" "" "" "SLC26A3(NM_000111.2):c.536C>T (p.A179V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107791082G>A" "" "VUS" ""
"0000339269" "0" "10" "7" "107414419" "107414419" "subst" "0.99394" "02327" "SLC26A3_000067" "g.107414419A>G" "" "" "" "SLC26A3(NM_000111.3):c.1953T>C (p.L651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107773974A>G" "" "benign" ""
"0000344348" "0" "10" "7" "107427322" "107427322" "subst" "0.0415271" "02327" "SLC26A3_000058" "g.107427322A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107786877A>C" "" "benign" ""
"0000345814" "0" "90" "7" "107431504" "107431504" "subst" "0" "02327" "SLC26A3_000013" "g.107431504C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107791059C>A" "" "pathogenic" ""
"0000348180" "0" "50" "7" "107431677" "107431677" "subst" "4.0619E-6" "02327" "SLC26A3_000147" "g.107431677G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107791232G>T" "" "VUS" ""
"0000350034" "0" "90" "7" "107427328" "107427328" "subst" "0" "02327" "SLC26A3_000019" "g.107427328G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107786883G>T" "" "pathogenic" ""
"0000350830" "0" "90" "7" "107414363" "107414363" "subst" "4.07777E-6" "02327" "SLC26A3_000144" "g.107414363A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107773918A>C" "" "pathogenic" ""
"0000350831" "0" "90" "7" "107414364" "107414364" "subst" "0" "02327" "SLC26A3_000145" "g.107414364C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107773919C>G" "" "pathogenic" ""
"0000350833" "0" "90" "7" "107420209" "107420209" "subst" "0" "02327" "SLC26A3_000146" "g.107420209C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107779764C>A" "" "pathogenic" ""
"0000530376" "0" "50" "7" "107430088" "107430088" "subst" "0" "02327" "SLC26A3_000017" "g.107430088A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107789643A>G" "" "VUS" ""
"0000530378" "0" "10" "7" "107432362" "107432362" "subst" "6.91119E-5" "02326" "SLC26A3_000150" "g.107432362C>T" "" "" "" "SLC26A3(NM_000111.2):c.295G>A (p.D99N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107791917C>T" "" "benign" ""
"0000610614" "0" "90" "7" "107420134" "107420134" "subst" "4.0708E-6" "02327" "SLC26A3_000031" "g.107420134C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107779689C>T" "" "pathogenic" ""
"0000610615" "0" "10" "7" "107423254" "107423254" "subst" "0.158539" "02327" "SLC26A3_000062" "g.107423254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107782809C>T" "" "benign" ""
"0000689858" "0" "90" "7" "107434303" "107434315" "del" "0" "02327" "SLC26A3_000001" "g.107434303_107434315del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000721186" "0" "70" "7" "107418629" "107418629" "del" "0" "01943" "SLC26A3_000151" "g.107418629del" "" "" "" "SLC26A3(NM_000111.2):c.1506delG (p.T503Pfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000802836" "0" "50" "7" "107408247" "107408247" "subst" "0.000802045" "01943" "SLC26A3_000140" "g.107408247C>G" "" "" "" "SLC26A3(NM_000111.2):c.2169G>C (p.K723N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000873635" "0" "70" "7" "107431677" "107431677" "subst" "1.62476E-5" "00000" "SLC26A3_000008" "g.107431677G>A" "238" "{PMID:Sun 2018:30076350}" "" "SLC26A3(NM_000111.2):c.386C>T(p.P129L )/c.270_271insAA(p.G91Kfs*3 )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.107791232G>A" "" "likely pathogenic" ""
"0000873636" "0" "70" "7" "107434188" "107434189" "dup" "0" "00000" "SLC26A3_000003" "g.107434188_107434189dup" "238" "{PMID:Sun 2018:30076350}" "" "SLC26A3(NM_000111.2):c.386C>T(p.P129L )/c.270_271insAA(p.G91Kfs*3 )" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.107793743_107793744dup" "" "likely pathogenic" ""
"0000887544" "0" "30" "7" "107427360" "107427360" "subst" "0.00383276" "02326" "SLC26A3_000152" "g.107427360A>G" "" "" "" "SLC26A3(NM_000111.2):c.889-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929264" "0" "30" "7" "107408247" "107408247" "subst" "0.000802045" "02326" "SLC26A3_000140" "g.107408247C>G" "" "" "" "SLC26A3(NM_000111.2):c.2169G>C (p.K723N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000929265" "0" "30" "7" "107432300" "107432300" "subst" "0.00171869" "02326" "SLC26A3_000056" "g.107432300G>A" "" "" "" "SLC26A3(NM_000111.2):c.357C>T (p.F119=), SLC26A3(NM_000111.3):c.357C>T (p.(Phe119=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000964375" "0" "10" "7" "107408037" "107408037" "subst" "0.00196602" "02326" "SLC26A3_000069" "g.107408037T>C" "" "" "" "SLC26A3(NM_000111.2):c.2258A>G (p.N753S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000964376" "0" "10" "7" "107417137" "107417137" "subst" "0.00180696" "02326" "SLC26A3_000064" "g.107417137G>A" "" "" "" "SLC26A3(NM_000111.2):c.1529C>T (p.T510M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000964378" "0" "10" "7" "107434255" "107434255" "subst" "0.00292025" "02326" "SLC26A3_000054" "g.107434255C>T" "" "" "" "SLC26A3(NM_000111.2):c.203G>A (p.R68Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000977455" "0" "30" "7" "107434217" "107434217" "subst" "0.00323283" "02326" "SLC26A3_000154" "g.107434217T>C" "" "" "" "SLC26A3(NM_000111.2):c.241A>G (p.I81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001036052" "0" "10" "7" "107432300" "107432300" "subst" "0.00171869" "01804" "SLC26A3_000056" "g.107432300G>A" "" "" "" "SLC26A3(NM_000111.2):c.357C>T (p.F119=), SLC26A3(NM_000111.3):c.357C>T (p.(Phe119=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
## 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 SLC26A3
## Count = 160
"{{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}}"
"0000016500" "00001768" "55" "131" "2" "131" "3" "c.131+2_131+3insU14569.1" "r.(?)" "p.(=)" "2i"
"0000016501" "00001768" "55" "145" "0" "157" "0" "c.145_157del" "r.(?)" "p.(Lys49Leufs*8)" "3"
"0000016503" "00001768" "55" "269" "0" "270" "0" "c.269_270dup" "r.(?)" "p.(Gly91Lysfs*3)" "3"
"0000016504" "00001768" "55" "271" "1" "972" "-1" "c.271+?_972-?del" "r.(?)" "p.(Gly91Aspfs*17)" "3i_8i"
"0000016505" "00001768" "55" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Phe111Serfs*4)" "4"
"0000016506" "00001768" "55" "344" "0" "344" "0" "c.344del" "r.(?)" "p.(Ile115Thrfs*19)" "4"
"0000016507" "00001768" "55" "358" "0" "358" "0" "c.358G>A" "r.(?)" "p.(Gly120Ser)" "4"
"0000016508" "00001768" "55" "371" "0" "371" "0" "c.371A>T" "r.(?)" "p.(His124Leu)" "4"
"0000016509" "00001768" "55" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Pro129Leu)" "5"
"0000016510" "00001768" "55" "392" "0" "392" "0" "c.392del" "r.(?)" "p.(Pro131Argfs*3)" "5"
"0000016511" "00001768" "55" "392" "0" "392" "0" "c.392C>G" "r.(?)" "p.(Pro131Arg)" "5"
"0000016512" "00001768" "55" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Pro131Leu)" "5"
"0000016513" "00001768" "55" "408" "0" "408" "0" "c.408G>A" "r.(?)" "p.(Met136Ile)" "5"
"0000016514" "00001768" "55" "559" "0" "559" "0" "c.559G>T" "r.(?)" "p.(Gly187*)" "5"
"0000016515" "00001768" "55" "571" "-2" "571" "-2" "c.571-2A>G" "r.(=)" "p.(=)" "5"
"0000016516" "00001768" "55" "571" "-1" "571" "-1" "c.571-1G>T" "r.(=)" "p.(=)" "5"
"0000016517" "00001768" "55" "610" "0" "610" "0" "c.610T>G" "r.(?)" "p.(Tyr204Asp)" "6"
"0000016518" "00001768" "55" "616" "0" "616" "0" "c.616T>C" "r.(?)" "p.(Ser206Pro)" "6"
"0000016519" "00001768" "55" "659" "0" "659" "0" "c.659A>C" "r.(?)" "p.(His220Pro)" "6"
"0000016520" "00001768" "55" "735" "1" "972" "-1" "c.735+?_972-?del" "r.(?)" "p.(Val246Ilefs*8)" "6i_8i"
"0000016521" "00001768" "55" "915" "0" "915" "0" "c.915C>A" "r.(?)" "p.(Tyr305*)" "8"
"0000016523" "00001768" "55" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Cys343Tyr)" "9"
"0000016524" "00001768" "55" "1030" "0" "1047" "0" "c.1030_1047delinsGATGCC" "r.(?)" "p.(Phe344_Val349delinsAspAla)" "9"
"0000016525" "00001768" "55" "1136" "0" "1136" "0" "c.1136G>C" "r.(?)" "p.(Gly379Ala)" "10"
"0000016526" "00001768" "55" "1148" "0" "1149" "0" "c.1148_1149del" "r.(?)" "p.(Ile383Serfs*74)" "10"
"0000016527" "00001768" "55" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Ser398Phe)" "10"
"0000016528" "00001768" "55" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Gln436*)" "11"
"0000016529" "00001768" "55" "1312" "-1" "1312" "-1" "c.1312-1G>A" "r.(?)" "p.(=)" "11"
"0000016530" "00001768" "55" "1342" "0" "1343" "0" "c.1342_1343del" "r.(?)" "p.(Leu448Lysfs*9)" "12"
"0000016531" "00001768" "55" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Gln454*)" "12"
"0000016532" "00001768" "55" "1362" "0" "1362" "0" "c.1362del" "r.(?)" "p.(Gln454Hisfs*5)" "12"
"0000016533" "00001768" "55" "1386" "0" "1386" "0" "c.1386G>A" "r.(?)" "p.(Trp462*)" "12"
"0000016534" "00001768" "55" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463*)" "12"
"0000016535" "00001768" "55" "1403" "0" "1403" "0" "c.1403A>T" "r.(?)" "p.(Asp468Val)" "12"
"0000016536" "00001768" "55" "1408" "-1" "1408" "-1" "c.1408-1G>C" "r.(=)" "p.(=)" "13"
"0000016537" "00001768" "55" "1487" "0" "1487" "0" "c.1487T>G" "r.(?)" "p.(Leu496Arg)" "13"
"0000016538" "00001768" "55" "1515" "-2" "1515" "-2" "c.1515-2del" "r.(=)" "p.(=)" "13i"
"0000016539" "00001768" "55" "1517" "0" "1517" "0" "c.1517del" "r.(?)" "p.(Pro506Glnfs*30)" "14"
"0000016540" "00001768" "55" "1551" "0" "1554" "0" "c.1551_1554del" "r.(?)" "p.(Asn518Serfs*17)" "14"
"0000016541" "00001768" "55" "1559" "0" "1559" "0" "c.1559A>G" "r.(?)" "p.(Tyr520Cys)" "14"
"0000016542" "00001768" "55" "1563" "0" "1563" "0" "c.1563G>C" "r.(?)" "p.(Lys521Asn)" "14"
"0000016543" "00001768" "55" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Tyr527del)" "14"
"0000016544" "00001768" "55" "1609" "0" "1609" "0" "c.1609del" "r.(?)" "p.(Ile537Phefs*39)" "15"
"0000016545" "00001768" "55" "1624" "0" "1626" "0" "c.1624_1626delinsC" "r.(?)" "p.(Ser542Profs*11)" "15"
"0000016546" "00001768" "55" "1631" "0" "1631" "0" "c.1631T>A" "r.(?)" "p.(Ile544Asn)" "15"
"0000016547" "00001768" "55" "1954" "0" "1954" "0" "c.1954G>A" "r.(?)" "p.(Asp652Asn)" "17"
"0000016548" "00001768" "55" "1990" "0" "1990" "0" "c.1990del" "r.(?)" "p.(Val664*)" "17"
"0000016549" "00001768" "55" "2024" "0" "2026" "0" "c.2024_2026dup" "r.(?)" "p.(Ile675dup)" "18"
"0000016550" "00001768" "55" "2104" "0" "2105" "0" "c.2104_2105delins29" "r.(?)" "p.(Gly702Thrins9)" "19"
"0000016551" "00001768" "97" "2116" "0" "2116" "0" "c.2116del" "r.(2116del)" "p.(Ser706Alafs*6)" "19"
"0000016553" "00001768" "55" "2205" "3" "2205" "3" "c.2205+3A>G" "r.(=)" "p.(=)" "19i"
"0000016554" "00001768" "55" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(Lys40Arg)" "2"
"0000016555" "00001768" "55" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" "3"
"0000016556" "00001768" "55" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Phe111Ser)" "4"
"0000016557" "00001768" "55" "357" "0" "357" "0" "c.357C>T" "r.(=)" "p.(=)" "4"
"0000016558" "00001768" "55" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Glu172Lys)" "5"
"0000016559" "00001768" "55" "921" "0" "921" "0" "c.921T>G" "r.(?)" "p.(Cys307Trp)" "8"
"0000016560" "00001768" "55" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asp308Gly)" "8"
"0000016561" "00001768" "55" "950" "0" "950" "0" "c.950T>G" "r.(?)" "p.(Val317Gly)" "8"
"0000016562" "00001768" "55" "996" "0" "996" "0" "c.996C>T" "r.(=)" "p.(=)" "9"
"0000016563" "00001768" "55" "1299" "0" "1299" "0" "c.1299G>A" "r.(=)" "p.(=)" "11"
"0000016564" "00001768" "55" "1314" "0" "1314" "0" "c.1314C>T" "r.(=)" "p.(=)" "12"
"0000016565" "00001768" "55" "1529" "0" "1529" "0" "c.1529C>T" "r.(?)" "p.(Thr510Met)" "14"
"0000016566" "00001768" "55" "1661" "0" "1661" "0" "c.1661G>A" "r.(?)" "p.(Arg554Gln)" "15"
"0000016567" "00001768" "55" "1802" "0" "1802" "0" "c.1802T>C" "r.(?)" "p.(Ile601Thr)" "17"
"0000016568" "00001768" "55" "1953" "0" "1953" "0" "c.1953T>C" "r.(=)" "p.(=)" "17"
"0000016569" "00001768" "55" "2038" "0" "2038" "0" "c.2038dup" "r.(?)" "p.(Asp680Glyfs*8)" "18"
"0000016570" "00001768" "55" "2258" "0" "2258" "0" "c.2258A>G" "r.(?)" "p.(Asn753Ser)" "20"
"0000016741" "00001768" "77" "1028" "0" "1028" "0" "c.1028G>A" "r.(1028g>a)" "p.(Cys343Tyr)" "9"
"0000016742" "00001768" "77" "1030" "0" "1047" "0" "c.1030_1047delinsGATGCC" "r.(1030_1047delinsgaugcc)" "p.(Phe344_Val349delinsAspAla)" "9"
"0000016743" "00001768" "77" "1136" "0" "1136" "0" "c.1136G>C" "r.(1136g>c)" "p.(Gly379Ala)" "10"
"0000016744" "00001768" "99" "1148" "0" "1149" "0" "c.1148_1149del" "r.(?)" "p.(Ile383Serfs*74)" "10"
"0000016745" "00001768" "77" "1193" "0" "1193" "0" "c.1193C>T" "r.(1193c>u)" "p.(Ser398Phe)" "10"
"0000016746" "00001768" "77" "1306" "0" "1306" "0" "c.1306C>T" "r.(1306c>u)" "p.(Gln436*)" "11"
"0000016747" "00001768" "77" "131" "2" "131" "3" "c.131+2_131+3ins288" "r.?" "p.?" "2i"
"0000016748" "00001768" "77" "1312" "-1" "1312" "-1" "c.1312-1G>A" "r.spl?" "p.?" "11i"
"0000016749" "00001768" "77" "1342" "0" "1343" "0" "c.1342_1343del" "r.(1342_1343del)" "p.(Leu448Lysfs*9)" "12"
"0000016750" "00001768" "77" "1360" "0" "1360" "0" "c.1360C>T" "r.(1360c>u)" "p.(Gln454*)" "12"
"0000016751" "00001768" "77" "1362" "0" "1362" "0" "c.1362del" "r.(1362del)" "p.(Gln454Hisfs*5)" "12"
"0000016752" "00001768" "77" "1386" "0" "1386" "0" "c.1386G>A" "r.(1386g>a)" "p.(Trp462*)" "12"
"0000016753" "00001768" "77" "1387" "0" "1387" "0" "c.1387C>T" "r.(1387c>u)" "p.(Arg463*)" "12"
"0000016754" "00001768" "77" "1403" "0" "1403" "0" "c.1403A>T" "r.(1403a>u)" "p.(Asp468Val)" "12"
"0000016755" "00001768" "77" "1408" "-1" "1408" "-1" "c.1408-1G>A" "r.spl?" "p.?" "12i"
"0000016756" "00001768" "77" "145" "0" "157" "0" "c.145_157del" "r.(145_157del)" "p.(Lys49Leufs*8)" "3"
"0000016757" "00001768" "77" "1487" "0" "1487" "0" "c.1487T>G" "r.(1487u>g)" "p.(Leu496Arg)" "13"
"0000016758" "00001768" "77" "1515" "-2" "1515" "-2" "c.1515-2del" "r.spl?" "p.?" "13i"
"0000016759" "00001768" "77" "1517" "0" "1517" "0" "c.1517del" "r.(?)" "p.(Pro506Glnfs*30)" "14"
"0000016760" "00001768" "77" "1526" "0" "1527" "0" "c.1526_1527del" "r.(?)" "p.(Ser509Asnfs*4)" "14"
"0000016761" "00001768" "77" "1551" "0" "1554" "0" "c.1551_1554del" "r.(?)" "p.(Asn518Serfs*17)" "14"
"0000016762" "00001768" "77" "1559" "0" "1559" "0" "c.1559A>G" "r.(1559a>g)" "p.(Tyr520Cys)" "14"
"0000016763" "00001768" "77" "1563" "0" "1563" "0" "c.1563G>C" "r.(1563g>c)" "p.(Lys521Asn)" "14"
"0000016764" "00001768" "77" "1579" "0" "1581" "0" "c.1579_1581del" "r.(?)" "p.(Tyr527del)" "14"
"0000016765" "00001768" "77" "1609" "0" "1609" "0" "c.1609del" "r.(1609del)" "p.(Ile537Phefs*39)" "15"
"0000016766" "00001768" "77" "1624" "0" "1626" "0" "c.1624_1626delinsC" "r.(1624_1626delinsc)" "p.(Ser542Profs*11)" "15"
"0000016767" "00001768" "77" "1631" "0" "1631" "0" "c.1631T>A" "r.(1631u>a)" "p.(Ile544Asn)" "15"
"0000016768" "00001768" "77" "177" "0" "177" "0" "c.177dup" "r.(177dup)" "p.(Ile60Hisfs*11)" "3"
"0000016769" "00001768" "77" "1954" "0" "1954" "0" "c.1954G>A" "r.(1954g>a)" "p.(Asp652Asn)" "17"
"0000016770" "00001768" "77" "1990" "0" "1990" "0" "c.1990del" "r.(1990del)" "p.(Val664*)" "17"
"0000016771" "00001768" "77" "2024" "0" "2026" "0" "c.2024_2026dup" "r.(?)" "p.(Ile675dup)" "18"
"0000016772" "00001768" "77" "2063" "-1" "2063" "-1" "c.2063-1G>T" "r.spl?" "p.?" "18i"
"0000016773" "00001768" "77" "2104" "0" "2105" "0" "c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT" "r.(2104_2105delinsaccgguuuugaagugaaaauucaaaauuu)" "p.(Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe)" "19"
"0000016774" "00001768" "77" "-211" "-1" "-89" "1" "c.-211-?_-89+?del" "r.?" "p.?" "_1_1i"
"0000016775" "00001768" "77" "2116" "0" "2116" "0" "c.2116del" "r.(?)" "p.(Ser706Alafs*6)" "19"
"0000016776" "00001768" "77" "2132" "0" "2132" "0" "c.2132T>G" "r.(2132u>g)" "p.(Leu711*)" "19"
"0000016777" "00001768" "77" "2205" "3" "2205" "3" "c.2205+3A>G" "r.(spl?)" "p.(?)" "19i"
"0000016778" "00001768" "77" "269" "0" "270" "0" "c.269_270dup" "r.(?)" "p.(Gly91Lysfs*3)" "3"
"0000016779" "00001768" "77" "272" "-1" "971" "1" "c.272-?_971+?del" "r.(272_971del)" "p.(Gly91Aspfs*17)" "3i_8i"
"0000016780" "00001768" "77" "332" "0" "332" "0" "c.332del" "r.(332del)" "p.(Phe111Serfs*4)" "4"
"0000016781" "00001768" "77" "344" "0" "344" "0" "c.344del" "r.(?)" "p.(Ile115Thrfs*19)" "4"
"0000016782" "00001768" "77" "358" "0" "358" "0" "c.358G>A" "r.(358g>a)" "p.(Gly120Ser)" "4"
"0000016783" "00001768" "77" "371" "0" "371" "0" "c.371A>T" "r.(371a>u)" "p.(His124Leu)" "4"
"0000016784" "00001768" "77" "386" "0" "386" "0" "c.386C>T" "r.(386c>u)" "p.(Pro129Leu)" "5"
"0000016785" "00001768" "77" "392" "0" "392" "0" "c.392C>G" "r.(392c>g)" "p.(Pro131Arg)" "5"
"0000016786" "00001768" "77" "392" "0" "392" "0" "c.392C>T" "r.(392c>u)" "p.(Pro131Leu)" "5"
"0000016787" "00001768" "77" "392" "0" "392" "0" "c.392del" "r.(392del)" "p.(Pro131Argfs*3)" "5"
"0000016788" "00001768" "77" "408" "0" "408" "0" "c.408G>A" "r.(408g>a)" "p.(Met136Ile)" "5"
"0000016789" "00001768" "77" "525" "0" "525" "0" "c.525G>C" "r.(525g>c)" "p.(Arg175Ser)" "5"
"0000016790" "00001768" "77" "559" "0" "559" "0" "c.559G>T" "r.(559g>u)" "p.(Gly187*)" "5"
"0000016791" "00001768" "77" "571" "-1" "571" "-1" "c.571-1G>T" "r.spl?" "p.?" "5i"
"0000016792" "00001768" "77" "571" "-2" "571" "-2" "c.571-2A>G" "r.spl?" "p.?" "5i"
"0000016793" "00001768" "77" "610" "0" "610" "0" "c.610T>G" "r.(610u>g)" "p.(Tyr204Asp)" "6"
"0000016794" "00001768" "77" "616" "0" "616" "0" "c.616T>C" "r.(616u>c)" "p.(Ser206Pro)" "6"
"0000016795" "00001768" "77" "659" "0" "659" "0" "c.659A>C" "r.(659a>c)" "p.(His220Pro)" "6"
"0000016796" "00001768" "77" "736" "-1" "971" "1" "c.736-?_971+?del" "r.(736_971del)" "p.(Val246Ilefs*8)" "6i_8i"
"0000016797" "00001768" "77" "915" "0" "915" "0" "c.915C>A" "r.(915c>a)" "p.(Tyr305*)" "8"
"0000016798" "00001768" "99" "951" "0" "953" "0" "c.951_953del" "r.(?)" "p.(Val318del)" "8"
"0000018267" "00001768" "77" "1047" "3" "1047" "3" "c.1047+3A>C" "r.spl?" "p.?" "9"
"0000018268" "00001768" "77" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Ser134Asn)" "5"
"0000039018" "00001768" "90" "971" "3" "971" "4" "c.971+3_971+4del" "r.spl?" "p.?" "8i"
"0000039019" "00001768" "90" "735" "4" "735" "7" "c.735+4_735+7del" "r.571_735del" "p.Leu191_Lys245delinsVal" "6i_8i"
"0000169413" "00001768" "00" "167" "0" "168" "0" "c.167_168del" "r.(?)" "p.(Ser56Phefs*14)" ""
"0000248586" "00001768" "10" "1953" "0" "1953" "0" "c.1953T>C" "r.(?)" "p.(Leu651=)" ""
"0000308339" "00001768" "30" "1017" "0" "1017" "0" "c.1017C>T" "r.(?)" "p.(Thr339=)" ""
"0000308340" "00001768" "10" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Phe119=)" ""
"0000308341" "00001768" "50" "536" "0" "536" "0" "c.536C>T" "r.(?)" "p.(Ala179Val)" ""
"0000339269" "00001768" "10" "1953" "0" "1953" "0" "c.1953T>C" "r.(?)" "p.(Leu651=)" ""
"0000344348" "00001768" "10" "921" "0" "921" "0" "c.921T>G" "r.(?)" "p.(Cys307Trp)" ""
"0000345814" "00001768" "90" "559" "0" "559" "0" "c.559G>T" "r.(?)" "p.(Gly187Ter)" ""
"0000348180" "00001768" "50" "386" "0" "386" "0" "c.386C>A" "r.(?)" "p.(Pro129Gln)" ""
"0000350034" "00001768" "90" "915" "0" "915" "0" "c.915C>A" "r.(?)" "p.(Tyr305Ter)" ""
"0000350830" "00001768" "90" "2007" "2" "2007" "2" "c.2007+2T>G" "r.spl?" "p.?" ""
"0000350831" "00001768" "90" "2007" "1" "2007" "1" "c.2007+1G>C" "r.spl?" "p.?" ""
"0000350833" "00001768" "90" "1312" "-1" "1312" "-1" "c.1312-1G>T" "r.spl?" "p.?" ""
"0000530376" "00001768" "50" "616" "0" "616" "0" "c.616T>C" "r.(?)" "p.(Ser206Pro)" ""
"0000530378" "00001768" "10" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Asp99Asn)" ""
"0000610614" "00001768" "90" "1386" "0" "1386" "0" "c.1386G>A" "r.(?)" "p.(Trp462Ter)" ""
"0000610615" "00001768" "10" "1299" "0" "1299" "0" "c.1299G>A" "r.(?)" "p.(Ala433=)" ""
"0000689858" "00001768" "90" "145" "0" "157" "0" "c.145_157del" "r.(?)" "p.(Lys49LeufsTer8)" ""
"0000721186" "00001768" "70" "1506" "0" "1506" "0" "c.1506del" "r.(?)" "p.(Thr503Profs*33)" ""
"0000802836" "00001768" "50" "2169" "0" "2169" "0" "c.2169G>C" "r.(?)" "p.(Lys723Asn)" ""
"0000873635" "00001768" "70" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Pro129Leu)" ""
"0000873636" "00001768" "70" "269" "0" "270" "0" "c.269_270dup" "r.(?)" "p.(Gly91Lysfs*3)" ""
"0000887544" "00001768" "30" "889" "-6" "889" "-6" "c.889-6T>C" "r.(=)" "p.(=)" ""
"0000929264" "00001768" "30" "2169" "0" "2169" "0" "c.2169G>C" "r.(?)" "p.(Lys723Asn)" ""
"0000929265" "00001768" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Phe119=)" ""
"0000964375" "00001768" "10" "2258" "0" "2258" "0" "c.2258A>G" "r.(?)" "p.(Asn753Ser)" ""
"0000964376" "00001768" "10" "1529" "0" "1529" "0" "c.1529C>T" "r.(?)" "p.(Thr510Met)" ""
"0000964378" "00001768" "10" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" ""
"0000977455" "00001768" "30" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Ile81Val)" ""
"0001036052" "00001768" "10" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Phe119=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 73
"{{screeningid}}" "{{variantid}}"
"0000000285" "0000016500"
"0000000286" "0000016501"
"0000000288" "0000016503"
"0000000289" "0000016504"
"0000000290" "0000016505"
"0000000291" "0000016506"
"0000000292" "0000016507"
"0000000293" "0000016508"
"0000000294" "0000016509"
"0000000295" "0000016510"
"0000000296" "0000016511"
"0000000297" "0000016512"
"0000000298" "0000016513"
"0000000299" "0000016514"
"0000000300" "0000016515"
"0000000301" "0000016516"
"0000000302" "0000016517"
"0000000303" "0000016518"
"0000000304" "0000016519"
"0000000305" "0000016520"
"0000000306" "0000016521"
"0000000308" "0000016523"
"0000000309" "0000016524"
"0000000310" "0000016525"
"0000000311" "0000016526"
"0000000312" "0000016527"
"0000000313" "0000016528"
"0000000314" "0000016529"
"0000000315" "0000016530"
"0000000316" "0000016531"
"0000000317" "0000016532"
"0000000318" "0000016533"
"0000000319" "0000016534"
"0000000320" "0000016535"
"0000000321" "0000016536"
"0000000322" "0000016537"
"0000000323" "0000016538"
"0000000324" "0000016539"
"0000000325" "0000016540"
"0000000326" "0000016541"
"0000000327" "0000016542"
"0000000328" "0000016543"
"0000000329" "0000016544"
"0000000330" "0000016545"
"0000000331" "0000016546"
"0000000332" "0000016547"
"0000000333" "0000016548"
"0000000334" "0000016549"
"0000000335" "0000016550"
"0000000336" "0000016551"
"0000000338" "0000016553"
"0000000339" "0000016554"
"0000000340" "0000016555"
"0000000341" "0000016556"
"0000000342" "0000016557"
"0000000343" "0000016558"
"0000000344" "0000016559"
"0000000345" "0000016560"
"0000000346" "0000016561"
"0000000347" "0000016562"
"0000000348" "0000016563"
"0000000349" "0000016564"
"0000000350" "0000016565"
"0000000351" "0000016566"
"0000000352" "0000016567"
"0000000353" "0000016568"
"0000000354" "0000016569"
"0000000355" "0000016570"
"0000018545" "0000039018"
"0000018545" "0000039019"
"0000104503" "0000169413"
"0000415751" "0000873635"
"0000415751" "0000873636"