### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC12A1) # 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}}" "SLC12A1" "solute carrier family 12 (sodium/potassium/chloride transporters), member 1" "15" "q15-q21" "unknown" "NG_021301.1" "UD_132085268597" "" "https://www.LOVD.nl/SLC12A1" "" "1" "10910" "6557" "600839" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC12A1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-12 19:09:54" "00000" "2025-07-04 14:18:02" ## 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}}" "00019098" "SLC12A1" "transcript variant 1" "001" "NM_000338.2" "" "NP_000329.2" "" "" "" "-216" "4493" "3300" "48498498" "48596275" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00712" "BARTS1" "Bartter syndrome, type 1 (BARTS1)" "AR" "601678" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05696" "BARTS" "Bartter syndrome (BARTS)" "" "" "" "" "" "00006" "2020-02-17 16:46:18" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC12A1" "00139" "SLC12A1" "00712" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00081057" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00361936" "" "" "" "1" "" "01156" "{PMID:Brochard 2009:19096086}" "" "F" "" "France" "" "0" "" "" "white" "Pat18" "00361937" "" "" "" "1" "" "01156" "{PMID:Brochard 2009:19096086}" "" "M" "yes" "Morocco" "" "0" "" "" "" "Pat19" "00361938" "" "" "" "1" "" "01156" "{PMID:Brochard 2009:19096086}" "" "F" "" "France" "" "0" "" "" "" "Pat23" "00361939" "" "" "" "1" "" "01156" "" "" "M" "no" "France" "" "0" "" "" "" "BAN0078001" "00361945" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "M" "" "France" "" "0" "" "" "white" "Pat17" "00361946" "" "" "" "2" "" "00006" "{PMID:Brochard 2009:19096086}" "family, 2 affected" "F" "" "France" "" "0" "" "" "white" "Pat20.1" "00361947" "" "" "00361946" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "relative of Pat20.1" "" "" "France" "" "0" "" "" "white" "Pat20.2" "00361948" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "Morocco" "" "0" "" "" "" "Pat21" "00361949" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "F" "" "France" "" "0" "" "" "white" "Pat22" "00361950" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "M" "" "France" "" "0" "" "" "Africa-N" "Pat24" "00361951" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "M" "" "France" "" "0" "" "" "white" "Pat25" "00361952" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "" "" "Mali" "" "0" "" "" "" "Pat26" "00361953" "" "" "" "1" "" "00006" "{PMID:Brochard 2009:19096086}" "patient" "M" "" "Algeria" "" "0" "" "" "" "Pat27" "00414474" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP141" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00081057" "00712" "00361936" "00712" "00361937" "00712" "00361938" "00712" "00361939" "00712" "00361945" "05696" "00361946" "05696" "00361947" "05696" "00361948" "05696" "00361949" "05696" "00361950" "05696" "00361951" "05696" "00361952" "05696" "00361953" "05696" "00414474" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00712, 05696 ## Count = 11 "{{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}}" "0000060626" "00712" "00081057" "01758" "Familial, autosomal recessive" "" "Bartter syndrome, type 1 (OMIM:601678)" "" "" "" "" "" "" "" "" "" "" "" "0000257336" "05696" "00361945" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257337" "05696" "00361946" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257338" "05696" "00361947" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257339" "05696" "00361948" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257340" "05696" "00361949" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257341" "05696" "00361950" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257342" "05696" "00361951" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257343" "05696" "00361952" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000257344" "05696" "00361953" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BARTS1" "Bartter syndrome" "" "0000306309" "00198" "00414474" "00000" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "Bartter Syndrome 1" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081169" "00081057" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000363164" "00361936" "1" "01156" "01156" "2021-04-12 16:57:47" "" "" "SEQ" "DNA" "" "" "0000363165" "00361937" "1" "01156" "01156" "2021-04-12 17:22:31" "" "" "SEQ" "DNA" "" "" "0000363166" "00361938" "1" "01156" "01156" "2021-04-12 17:46:09" "" "" "SEQ" "DNA" "" "" "0000363167" "00361939" "1" "01156" "01156" "2021-04-12 17:53:31" "" "" "SEQ" "DNA" "" "" "0000363173" "00361945" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363174" "00361946" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363175" "00361947" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363176" "00361948" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363177" "00361949" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363178" "00361950" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363179" "00361951" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363180" "00361952" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000363181" "00361953" "1" "00006" "00006" "2021-04-13 09:47:21" "" "" "SEQ" "DNA" "" "" "0000415754" "00414474" "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 = 15 "{{screeningid}}" "{{geneid}}" "0000081169" "SLC12A1" "0000363164" "SLC12A1" "0000363165" "SLC12A1" "0000363166" "SLC12A1" "0000363167" "SLC12A1" "0000363173" "SLC12A1" "0000363174" "SLC12A1" "0000363175" "SLC12A1" "0000363176" "SLC12A1" "0000363177" "SLC12A1" "0000363178" "SLC12A1" "0000363179" "SLC12A1" "0000363180" "SLC12A1" "0000363181" "SLC12A1" "0000415754" "SLC12A1" ## 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 = 65 "{{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}}" "0000130255" "3" "90" "15" "48584053" "48584056" "del" "0" "01758" "SLC12A1_000001" "g.48584053_48584056del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.48291856_48291859del" "" "pathogenic" "ACMG" "0000298226" "0" "10" "15" "48580713" "48580713" "subst" "0.999467" "02325" "SLC12A1_000012" "g.48580713T>C" "" "" "" "SLC12A1(NM_000338.3):c.2873T>C (p.V958A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48288516T>C" "" "benign" "" "0000302124" "0" "10" "15" "48529077" "48529077" "subst" "0" "02326" "SLC12A1_000006" "g.48529077T>A" "" "" "" "SLC12A1(NM_000338.3):c.1215+1876T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48236880T>A" "" "benign" "" "0000302127" "0" "10" "15" "48518555" "48518555" "subst" "0" "02326" "SLC12A1_000002" "g.48518555C>T" "" "" "" "SLC12A1(NM_000338.3):c.629-118C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48226358C>T" "" "benign" "" "0000302128" "0" "10" "15" "48518752" "48518752" "subst" "0.000835707" "02326" "SLC12A1_000003" "g.48518752C>T" "" "" "" "SLC12A1(NM_000338.3):c.708C>T (p.N236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48226555C>T" "" "benign" "" "0000324080" "0" "50" "15" "48518762" "48518762" "subst" "4.94968E-5" "01804" "SLC12A1_000004" "g.48518762C>T" "" "" "" "SLC12A1(NM_000338.2):c.718C>T (p.(Arg240Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48226565C>T" "" "VUS" "" "0000324082" "0" "50" "15" "48539556" "48539556" "subst" "6.91923E-5" "01804" "SLC12A1_000008" "g.48539556A>G" "" "" "" "SLC12A1(NM_000338.2):c.1583A>G (p.(Tyr528Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48247359A>G" "" "VUS" "" "0000324085" "0" "50" "15" "48591329" "48591329" "subst" "0" "01804" "SLC12A1_000013" "g.48591329A>T" "" "" "" "SLC12A1(NM_000338.2):c.2961-8A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48299132A>T" "" "VUS" "" "0000338293" "0" "90" "15" "48580714" "48580714" "subst" "1.96536E-5" "02327" "SLC12A1_000019" "g.48580714G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48288517G>A" "" "pathogenic" "" "0000338297" "0" "10" "15" "48595192" "48595192" "subst" "0" "02327" "SLC12A1_000020" "g.48595192G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48302995G>T" "" "benign" "" "0000340192" "0" "10" "15" "48539587" "48539587" "subst" "0.287191" "02327" "SLC12A1_000018" "g.48539587T>C" "" "" "" "SLC12A1(NM_000338.3):c.1614T>C (p.Y538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48247390T>C" "" "benign" "" "0000343779" "0" "70" "15" "48539550" "48539552" "del" "0" "02327" "SLC12A1_000017" "g.48539550_48539552del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48247353_48247355del" "" "likely pathogenic" "" "0000348034" "0" "50" "15" "48527095" "48527095" "subst" "0" "02327" "SLC12A1_000016" "g.48527095T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48234898T>C" "" "VUS" "" "0000351235" "0" "10" "15" "48580713" "48580713" "subst" "0.999467" "02327" "SLC12A1_000012" "g.48580713T>C" "" "" "" "SLC12A1(NM_000338.3):c.2873T>C (p.V958A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48288516T>C" "" "benign" "" "0000554522" "0" "50" "15" "48500089" "48500089" "subst" "0" "01804" "CTXN2_000001" "g.48500089T>C" "" "" "" "SLC12A1(NM_000338.2):c.173T>C (p.(Leu58Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48207892T>C" "" "VUS" "" "0000554523" "0" "30" "15" "48500263" "48500263" "subst" "0.00348173" "01804" "CTXN2_000002" "g.48500263G>A" "" "" "" "SLC12A1(NM_000338.2):c.347G>A (p.R116H, p.(Arg116His)), SLC12A1(NM_000338.3):c.347G>A (p.R116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48208066G>A" "" "likely benign" "" "0000554524" "0" "10" "15" "48538991" "48538993" "dup" "0" "02326" "SLC12A1_000021" "g.48538991_48538993dup" "" "" "" "SLC12A1(NM_000338.3):c.1453-117_1453-115dupAAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48246794_48246796dup" "" "benign" "" "0000554525" "0" "50" "15" "48539146" "48539146" "subst" "0" "02327" "SLC12A1_000022" "g.48539146C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48246949C>T" "" "VUS" "" "0000554526" "0" "50" "15" "48539663" "48539663" "subst" "4.40412E-6" "02327" "SLC12A1_000023" "g.48539663T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48247466T>G" "" "VUS" "" "0000554527" "0" "10" "15" "48541535" "48541535" "dup" "0" "02326" "SLC12A1_000024" "g.48541535dup" "" "" "" "SLC12A1(NM_000338.3):c.1685-237dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48249338dup" "" "benign" "" "0000554528" "0" "30" "15" "48551421" "48551421" "subst" "0.0020711" "01943" "SLC12A1_000025" "g.48551421G>A" "" "" "" "SLC12A1(NM_000338.2):c.2067G>A (p.G689=), SLC12A1(NM_000338.3):c.2067G>A (p.G689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48259224G>A" "" "likely benign" "" "0000554529" "0" "30" "15" "48559858" "48559858" "subst" "0.00109325" "01943" "SLC12A1_000026" "g.48559858C>T" "" "" "" "SLC12A1(NM_000338.2):c.2255C>T (p.A752V), SLC12A1(NM_000338.3):c.2255C>T (p.A752V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48267661C>T" "" "likely benign" "" "0000554530" "0" "30" "15" "48580233" "48580233" "subst" "0.00168405" "01804" "SLC12A1_000027" "g.48580233G>A" "" "" "" "SLC12A1(NM_000338.2):c.2630-7G>A (p.(=)), SLC12A1(NM_000338.3):c.2630-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48288036G>A" "" "likely benign" "" "0000554531" "0" "30" "15" "48584044" "48584044" "subst" "0.0010917" "01943" "SLC12A1_000028" "g.48584044T>C" "" "" "" "SLC12A1(NM_000338.2):c.2943T>C (p.I981=), SLC12A1(NM_000338.3):c.2943T>C (p.I981=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48291847T>C" "" "likely benign" "" "0000554532" "0" "90" "15" "48593580" "48593580" "subst" "0" "02327" "SLC12A1_000029" "g.48593580G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48301383G>A" "" "pathogenic" "" "0000657592" "0" "30" "15" "48527104" "48527104" "subst" "0.00026829" "02325" "SLC12A1_000030" "g.48527104G>A" "" "" "" "SLC12A1(NM_000338.3):c.1118G>A (p.R373H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48234907G>A" "" "likely benign" "" "0000763614" "3" "70" "15" "48527089" "48527089" "subst" "0" "01156" "SLC12A1_000031" "g.48527089A>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000763615" "3" "90" "15" "48539175" "48539175" "subst" "2.447E-5" "01156" "SLC12A1_000032" "g.48539175G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "" "RCV:000992996.1, RCV:000779167.1, RCV:000200351.1" "pathogenic (recessive)" "" "0000763616" "11" "70" "15" "48543908" "48543908" "subst" "0" "01156" "SLC12A1_000033" "g.48543908C>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV-RCV:000420163.1}" "likely pathogenic" "" "0000763617" "0" "90" "15" "48537078" "48537078" "subst" "0" "01156" "SLC12A1_000034" "g.48537078T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000763618" "0" "90" "15" "48539120" "48539127" "del" "0" "01156" "SLC12A1_000035" "g.48539120_48539127del" "" "" "" "1464_1471del" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000763624" "1" "90" "15" "48518667" "48518667" "subst" "0" "00006" "SLC12A1_000038" "g.48518667T>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48226470T>G" "" "pathogenic (recessive)" "" "0000763625" "1" "90" "15" "48513142" "48513142" "subst" "0" "00006" "SLC12A1_000037" "g.48513142G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48220945G>A" "" "pathogenic (recessive)" "" "0000763626" "1" "90" "15" "48513142" "48513142" "subst" "0" "00006" "SLC12A1_000037" "g.48513142G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48220945G>A" "" "pathogenic (recessive)" "" "0000763627" "3" "90" "15" "48559884" "48559884" "subst" "4.06554E-6" "00006" "SLC12A1_000046" "g.48559884C>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48267687C>T" "" "pathogenic (recessive)" "" "0000763628" "1" "90" "15" "48500253" "48500255" "dup" "0" "00006" "SLC12A1_000036" "g.48500253_48500255dup" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48208056_48208058dup" "" "pathogenic (recessive)" "" "0000763629" "3" "90" "15" "48536976" "48536976" "subst" "4.06293E-6" "00006" "SLC12A1_000044" "g.48536976G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48244779G>A" "" "pathogenic (recessive)" "" "0000763630" "1" "90" "15" "48524958" "48524958" "subst" "0" "00006" "SLC12A1_000042" "g.48524958C>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48232761C>T" "" "pathogenic (recessive)" "" "0000763631" "3" "90" "15" "48522680" "48522680" "subst" "0" "00006" "SLC12A1_000040" "g.48522680G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48230483G>A" "" "pathogenic (recessive)" "" "0000763632" "3" "90" "15" "48551471" "48551471" "del" "0" "00006" "SLC12A1_000045" "g.48551471del" "" "{PMID:Brochard 2009:19096086}" "" "2117delA" "" "Germline" "" "" "0" "" "" "g.48259274del" "" "pathogenic (recessive)" "" "0000763662" "2" "90" "15" "48524910" "48524910" "subst" "0" "00006" "SLC12A1_000041" "g.48524910C>G" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48232713C>G" "" "pathogenic (recessive)" "" "0000763663" "2" "90" "15" "48521460" "48521460" "subst" "0" "00006" "SLC12A1_000039" "g.48521460G>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48229263G>T" "" "pathogenic (recessive)" "" "0000763664" "2" "90" "15" "48521460" "48521460" "subst" "0" "00006" "SLC12A1_000039" "g.48521460G>T" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48229263G>T" "" "pathogenic (recessive)" "" "0000763665" "2" "90" "15" "48524989" "48524993" "del" "0" "00006" "SLC12A1_000043" "g.48524989_48524993del" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48232792_48232796del" "" "pathogenic (recessive)" "" "0000763666" "2" "90" "15" "48593580" "48593580" "subst" "0" "00006" "SLC12A1_000029" "g.48593580G>A" "" "{PMID:Brochard 2009:19096086}" "" "" "" "Germline" "" "" "0" "" "" "g.48301383G>A" "" "pathogenic (recessive)" "" "0000806715" "0" "50" "15" "48500263" "48500263" "subst" "0.00348173" "01943" "CTXN2_000002" "g.48500263G>A" "" "" "" "SLC12A1(NM_000338.2):c.347G>A (p.R116H, p.(Arg116His)), SLC12A1(NM_000338.3):c.347G>A (p.R116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806716" "0" "50" "15" "48551399" "48551399" "subst" "0" "02327" "SLC12A1_000049" "g.48551399C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806717" "0" "30" "15" "48551421" "48551421" "subst" "0.0020711" "02326" "SLC12A1_000025" "g.48551421G>A" "" "" "" "SLC12A1(NM_000338.2):c.2067G>A (p.G689=), SLC12A1(NM_000338.3):c.2067G>A (p.G689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806718" "0" "30" "15" "48551449" "48551449" "subst" "0.000909586" "01943" "SLC12A1_000050" "g.48551449G>A" "" "" "" "SLC12A1(NM_000338.2):c.2095G>A (p.D699N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854052" "0" "10" "15" "48539587" "48539587" "subst" "0.287191" "02326" "SLC12A1_000018" "g.48539587T>C" "" "" "" "SLC12A1(NM_000338.3):c.1614T>C (p.Y538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854053" "0" "10" "15" "48580713" "48580713" "subst" "0.999467" "02326" "SLC12A1_000012" "g.48580713T>C" "" "" "" "SLC12A1(NM_000338.3):c.2873T>C (p.V958A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000873640" "0" "70" "15" "48512873" "48512873" "subst" "0.000187397" "00000" "SLC12A1_000051" "g.48512873G>A" "241" "{PMID:Sun 2018:30076350}" "" "SLC12A1(NM_000338.2):c.463G>A(p.G155S)/c.3207G>T(p.L1069F)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.48220676G>A" "" "likely pathogenic" "" "0000873641" "0" "70" "15" "48594989" "48594989" "subst" "0.000170601" "00000" "SLC12A1_000052" "g.48594989G>T" "241" "{PMID:Sun 2018:30076350}" "" "SLC12A1(NM_000338.2):c.463G>A(p.G155S)/c.3207G>T(p.L1069F)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.48302792G>T" "" "likely pathogenic" "" "0000892101" "0" "10" "15" "48533808" "48533808" "subst" "0.00365388" "02326" "SLC12A1_000053" "g.48533808G>A" "" "" "" "SLC12A1(NM_000338.3):c.1300+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914300" "0" "10" "15" "48580233" "48580233" "subst" "0.00168405" "02326" "SLC12A1_000027" "g.48580233G>A" "" "" "" "SLC12A1(NM_000338.2):c.2630-7G>A (p.(=)), SLC12A1(NM_000338.3):c.2630-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925969" "0" "30" "15" "48559865" "48559865" "subst" "3.25039E-5" "02326" "SLC12A1_000054" "g.48559865C>T" "" "" "" "SLC12A1(NM_000338.3):c.2262C>T (p.D754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927950" "0" "90" "15" "48539658" "48539658" "subst" "0" "03779" "SLC12A1_000055" "g.48539658G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000930387" "0" "30" "15" "48559858" "48559858" "subst" "0.00109325" "02326" "SLC12A1_000026" "g.48559858C>T" "" "" "" "SLC12A1(NM_000338.2):c.2255C>T (p.A752V), SLC12A1(NM_000338.3):c.2255C>T (p.A752V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930388" "0" "30" "15" "48584044" "48584044" "subst" "0.0010917" "02326" "SLC12A1_000028" "g.48584044T>C" "" "" "" "SLC12A1(NM_000338.2):c.2943T>C (p.I981=), SLC12A1(NM_000338.3):c.2943T>C (p.I981=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967794" "0" "30" "15" "48500263" "48500263" "subst" "0.00348173" "02326" "CTXN2_000002" "g.48500263G>A" "" "" "" "SLC12A1(NM_000338.2):c.347G>A (p.R116H, p.(Arg116His)), SLC12A1(NM_000338.3):c.347G>A (p.R116H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981245" "0" "70" "15" "48521389" "48521389" "subst" "0" "02327" "SLC12A1_000056" "g.48521389G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981246" "0" "50" "15" "48539534" "48539534" "subst" "0" "02327" "SLC12A1_000057" "g.48539534G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981247" "0" "50" "15" "48566846" "48566846" "subst" "0.000403979" "01804" "SLC12A1_000058" "g.48566846G>A" "" "" "" "SLC12A1(NM_000338.3):c.2481G>A (p.(Val827=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981248" "0" "30" "15" "48580696" "48580696" "subst" "2.54586E-5" "02326" "SLC12A1_000059" "g.48580696T>C" "" "" "" "SLC12A1(NM_000338.3):c.2856T>C (p.I952=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045543" "0" "50" "15" "48527206" "48527206" "subst" "5.69291E-5" "03779" "SLC12A1_000060" "g.48527206G>A" "" "" "" "" "" "Unknown" "" "rs554414818" "0" "" "" "" "" "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 SLC12A1 ## Count = 65 "{{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}}" "0000130255" "00019098" "90" "2952" "0" "2955" "0" "c.2952_2955del" "r.(?)" "p.(Asn984Lysfs*10)" "" "0000298226" "00019098" "10" "2873" "0" "2873" "0" "c.2873T>C" "r.(?)" "p.(Val958Ala)" "" "0000302124" "00019098" "10" "1215" "1876" "1215" "1876" "c.1215+1876T>A" "r.(=)" "p.(=)" "" "0000302127" "00019098" "10" "629" "-118" "629" "-118" "c.629-118C>T" "r.(=)" "p.(=)" "" "0000302128" "00019098" "10" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Asn236=)" "" "0000324080" "00019098" "50" "718" "0" "718" "0" "c.718C>T" "r.(?)" "p.(Arg240Cys)" "" "0000324082" "00019098" "50" "1583" "0" "1583" "0" "c.1583A>G" "r.(?)" "p.(Tyr528Cys)" "" "0000324085" "00019098" "50" "2961" "-8" "2961" "-8" "c.2961-8A>T" "r.(=)" "p.(=)" "" "0000338293" "00019098" "90" "2873" "1" "2873" "1" "c.2873+1G>A" "r.spl?" "p.?" "" "0000338297" "00019098" "10" "3410" "0" "3410" "0" "c.*110G>T" "r.(=)" "p.(=)" "" "0000340192" "00019098" "10" "1614" "0" "1614" "0" "c.1614T>C" "r.(?)" "p.(Tyr538=)" "" "0000343779" "00019098" "70" "1577" "0" "1579" "0" "c.1577_1579del" "r.(?)" "p.(Asn526del)" "" "0000348034" "00019098" "50" "1109" "0" "1109" "0" "c.1109T>C" "r.(?)" "p.(Phe370Ser)" "" "0000351235" "00019098" "10" "2873" "0" "2873" "0" "c.2873T>C" "r.(?)" "p.(Val958Ala)" "" "0000554522" "00019098" "50" "173" "0" "173" "0" "c.173T>C" "r.(?)" "p.(Leu58Pro)" "" "0000554523" "00019098" "30" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116His)" "" "0000554524" "00019098" "10" "1453" "-115" "1453" "-113" "c.1453-115_1453-113dup" "r.(=)" "p.(=)" "" "0000554525" "00019098" "50" "1493" "0" "1493" "0" "c.1493C>T" "r.(?)" "p.(Ala498Val)" "" "0000554526" "00019098" "50" "1684" "6" "1684" "6" "c.1684+6T>G" "r.(=)" "p.(=)" "" "0000554527" "00019098" "10" "1685" "-237" "1685" "-237" "c.1685-237dup" "r.(=)" "p.(=)" "" "0000554528" "00019098" "30" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Gly689=)" "" "0000554529" "00019098" "30" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Ala752Val)" "" "0000554530" "00019098" "30" "2630" "-7" "2630" "-7" "c.2630-7G>A" "r.(=)" "p.(=)" "" "0000554531" "00019098" "30" "2943" "0" "2943" "0" "c.2943T>C" "r.(?)" "p.(Ile981=)" "" "0000554532" "00019098" "90" "3164" "1" "3164" "1" "c.3164+1G>A" "r.spl?" "p.?" "" "0000657592" "00019098" "30" "1118" "0" "1118" "0" "c.1118G>A" "r.(?)" "p.(Arg373His)" "" "0000763614" "00019098" "70" "1103" "0" "1103" "0" "c.1103A>G" "r.?" "p.(Glu368Gly)" "9" "0000763615" "00019098" "90" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Ala508Thr)" "12" "0000763616" "00019098" "70" "1883" "0" "1883" "0" "c.1883C>A" "r.?" "p.(Ala628Asp)" "15" "0000763617" "00019098" "90" "1429" "0" "1429" "0" "c.1429T>A" "r.?" "p.(Tyr477Asn)" "11" "0000763618" "00019098" "90" "1467" "0" "1474" "0" "c.1467_1474del" "r.(?)" "p.(Ser490Argfs*51)" "12" "0000763624" "00019098" "90" "629" "-6" "629" "-6" "c.629-6A>G" "r.spl" "p.?" "" "0000763625" "00019098" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Arg)" "" "0000763626" "00019098" "90" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.(Gly193Arg)" "" "0000763627" "00019098" "90" "2281" "0" "2281" "0" "c.2281C>T" "r.(?)" "p.(Arg761Ter)" "" "0000763628" "00019098" "90" "337" "-339" "337" "-339" "c.337-339dup" "r.(?)" "p.(Glu113dup)" "" "0000763629" "00019098" "90" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Gly443Arg)" "" "0000763630" "00019098" "90" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ala337Val)" "" "0000763631" "00019098" "90" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Gly319Arg)" "" "0000763632" "00019098" "90" "2117" "0" "2117" "0" "c.2117del" "r.(?)" "p.(Lys706ArgfsTer23)" "" "0000763662" "00019098" "90" "976" "-14" "976" "-14" "c.976-14C>G" "r.?" "p.?" "" "0000763663" "00019098" "90" "799" "0" "799" "0" "c.799G>T" "r.(?)" "p.(Ala267Ser)" "" "0000763664" "00019098" "90" "799" "0" "799" "0" "c.799G>T" "r.(?)" "p.(Ala267Ser)" "" "0000763665" "00019098" "90" "1041" "0" "1045" "0" "c.1041_1045del" "r.(?)" "p.(Pro348GlnfsTer3)" "" "0000763666" "00019098" "90" "3164" "1" "3164" "1" "c.3164+1G>A" "r.spl" "p.?" "" "0000806715" "00019098" "50" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116His)" "" "0000806716" "00019098" "50" "2045" "0" "2045" "0" "c.2045C>T" "r.(?)" "p.(Pro682Leu)" "" "0000806717" "00019098" "30" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Gly689=)" "" "0000806718" "00019098" "30" "2095" "0" "2095" "0" "c.2095G>A" "r.(?)" "p.(Asp699Asn)" "" "0000854052" "00019098" "10" "1614" "0" "1614" "0" "c.1614T>C" "r.(?)" "p.(Tyr538=)" "" "0000854053" "00019098" "10" "2873" "0" "2873" "0" "c.2873T>C" "r.(?)" "p.(Val958Ala)" "" "0000873640" "00019098" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Gly155Ser)" "" "0000873641" "00019098" "70" "3207" "0" "3207" "0" "c.3207G>T" "r.(?)" "p.(Leu1069Phe)" "" "0000892101" "00019098" "10" "1300" "12" "1300" "12" "c.1300+12G>A" "r.(=)" "p.(=)" "" "0000914300" "00019098" "10" "2630" "-7" "2630" "-7" "c.2630-7G>A" "r.(=)" "p.(=)" "" "0000925969" "00019098" "30" "2262" "0" "2262" "0" "c.2262C>T" "r.(?)" "p.(Asp754=)" "" "0000927950" "00019098" "90" "1684" "1" "1684" "1" "c.1684+1G>A" "r.(?)" "p.(?)" "" "0000930387" "00019098" "30" "2255" "0" "2255" "0" "c.2255C>T" "r.(?)" "p.(Ala752Val)" "" "0000930388" "00019098" "30" "2943" "0" "2943" "0" "c.2943T>C" "r.(?)" "p.(Ile981=)" "" "0000967794" "00019098" "30" "347" "0" "347" "0" "c.347G>A" "r.(?)" "p.(Arg116His)" "" "0000981245" "00019098" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Gly243Glu)" "" "0000981246" "00019098" "50" "1561" "0" "1561" "0" "c.1561G>C" "r.(?)" "p.(Ala521Pro)" "" "0000981247" "00019098" "50" "2481" "0" "2481" "0" "c.2481G>A" "r.(?)" "p.(=)" "" "0000981248" "00019098" "30" "2856" "0" "2856" "0" "c.2856T>C" "r.(?)" "p.(=)" "" "0001045543" "00019098" "50" "1215" "5" "1215" "5" "c.1215+5G>A" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000081169" "0000130255" "0000363164" "0000763614" "0000363165" "0000763615" "0000363166" "0000763616" "0000363167" "0000763617" "0000363167" "0000763618" "0000363173" "0000763624" "0000363173" "0000763662" "0000363174" "0000763625" "0000363174" "0000763663" "0000363175" "0000763626" "0000363175" "0000763664" "0000363176" "0000763627" "0000363177" "0000763628" "0000363177" "0000763665" "0000363178" "0000763629" "0000363179" "0000763630" "0000363179" "0000763666" "0000363180" "0000763631" "0000363181" "0000763632" "0000415754" "0000873640" "0000415754" "0000873641"