### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC12A2) # 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}}" "SLC12A2" "solute carrier family 12 (sodium/potassium/chloride transporters), member 2" "5" "q23.3" "unknown" "NC_000005.9" "UD_132610410500" "" "https://www.LOVD.nl/SLC12A2" "" "1" "10911" "6558" "600840" "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/SLC12A2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-05 13:52:29" "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}}" "00019099" "SLC12A2" "solute carrier family 12 (sodium/potassium/chloride transporters), member 2" "001" "NM_001046.2" "" "NP_001037.1" "" "" "" "-164" "6696" "3639" "127419483" "127525380" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "06950" "DFNA78" "deafness, autosomal dominant, type 78" "AD" "619081" "" "" "" "00006" "2022-08-05 13:48:54" "" "" "06951" "KILQS" "Kilquist syndrome" "AR" "619080" "" "" "" "00006" "2022-08-05 13:50:07" "" "" "06952" "DELMNES" "Delpire-McNeill syndrome" "AD" "619083" "" "" "" "00006" "2022-08-05 13:51:14" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SLC12A2" "06950" "SLC12A2" "06951" "SLC12A2" "06952" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00307928" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "family" "M" "" "" "" "0" "" "" "" "17DG0776" "00414703" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "202459" "00428680" "" "" "" "6" "" "04147" "{PMID:Wonkam 2022:35440622}" "3-generation family, 6 affected (3M,3F)" "M" "no" "Ghana" "" "0" "" "" "Africa" "Fam35" "00441474" "" "" "" "10" "" "00006" "{PMID:Vanniya 2022:34374074}" "2-generation family, 10 affected (2F, 8M)" "F;M" "" "India" "" "0" "" "" "" "DXNCHM46" "00448507" "" "" "" "1" "" "04656" "" "" "M" "" "Pakistan" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" "00307928" "00139" "00414703" "06952" "00428680" "06950" "00441474" "05086" "00448507" "06950" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05086, 06950, 06951, 06952 ## Count = 5 "{{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}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000233351" "00139" "00307928" "00006" "Familial, autosomal recessive" "3y" "see paper; ..., global developmental delay; failure to thrive; central hypotonia; microcephaly; neonatal respiratory distress; recurrent aspiration pneumonia; osteopenia" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000306654" "06952" "00414703" "01164" "Isolated (sporadic)" "03y" "delayed speech and language development, abnormality outer ear, neurodevelopmental delay, autistic behavior" "" "" "" "" "" "" "" "" "DELMES" "Delpire-McNeill syndrome" "" "0000319585" "06950" "00428680" "04147" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "DFNA78" "Non-syndromic hearing impairment" "" "0000330914" "05086" "00441474" "00006" "Familial, autosomal dominant" "" "prelingual bilateral severe-profound sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNA78" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000309072" "00307928" "1" "00006" "00006" "2020-08-23 12:07:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000415984" "00414703" "1" "01164" "01164" "2022-08-02 10:42:13" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000430093" "00428680" "1" "04147" "04147" "2023-01-06 16:22:01" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "WES" "0000442960" "00441474" "1" "00006" "00006" "2023-11-07 22:09:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450088" "00448507" "1" "04656" "04656" "2024-03-18 08:46:16" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000309072" "SLC12A2" "0000415984" "SLC12A2" "0000450088" "SLC12A2" ## 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 = 34 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000330500" "0" "50" "5" "127419802" "127419802" "subst" "0.00512793" "01804" "SLC12A2_000001" "g.127419802C>G" "" "" "" "SLC12A2(NM_001046.2):c.156C>G (p.(Asp52Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128084110C>G" "" "VUS" "" "0000337094" "0" "50" "5" "127503451" "127503451" "subst" "0" "02327" "SLC12A2_000002" "g.127503451A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.128167759A>G" "" "VUS" "" "0000523982" "0" "50" "5" "127419881" "127419881" "subst" "0" "01804" "SLC12A2_000004" "g.127419881A>C" "" "" "" "SLC12A2(NM_001046.2):c.235A>C (p.(Ser79Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128084189A>C" "" "VUS" "" "0000523983" "0" "30" "5" "127450339" "127450339" "subst" "3.25082E-5" "01943" "SLC12A2_000005" "g.127450339T>C" "" "" "" "SLC12A2(NM_001046.2):c.1014T>C (p.T338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128114647T>C" "" "likely benign" "" "0000523984" "0" "30" "5" "127471440" "127471440" "subst" "0.000126077" "01943" "SLC12A2_000006" "g.127471440G>A" "" "" "" "SLC12A2(NM_001046.2):c.1348G>A (p.V450I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128135748G>A" "" "likely benign" "" "0000683534" "3" "70" "5" "127503451" "127503451" "subst" "0" "00006" "SLC12A2_000002" "g.127503451A>G" "" "{PMID:Anazi 2017:28940097}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128167759A>G" "" "likely pathogenic (recessive)" "" "0000801840" "0" "30" "5" "127488456" "127488456" "subst" "0.000967401" "01943" "SLC12A2_000007" "g.127488456A>C" "" "" "" "SLC12A2(NM_001046.2):c.2322A>C (p.S774=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859721" "0" "50" "5" "127449926" "127449926" "subst" "0" "01943" "SLC12A2_000008" "g.127449926G>C" "" "" "" "SLC12A2(NM_001046.2):c.899G>C (p.W300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859722" "0" "50" "5" "127516690" "127516690" "subst" "0" "01943" "SLC12A2_000009" "g.127516690A>C" "" "" "" "SLC12A2(NM_001046.2):c.3212+4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873893" "0" "50" "5" "127466786" "127466786" "subst" "0" "01164" "SLC12A2_000010" "g.127466786G>A" "" "" "" "" "ACMG PM2_SUP, PP3" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000886560" "0" "50" "5" "127486971" "127486971" "subst" "4.12872E-6" "02327" "SLC12A2_000011" "g.127486971T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909828" "21" "90" "5" "127512802" "127512802" "subst" "0" "04147" "SLC12A2_000012" "g.127512802G>A" "" "{PMID:Wonkam 2022:35440622}" "" "" "" "Germline" "yes" "rs1581138934" "" "" "" "g.128177110G>A" "" "pathogenic (dominant)" "ACMG" "0000912196" "0" "50" "5" "127419946" "127419954" "del" "0" "02325" "SLC12A2_000013" "g.127419946_127419954del" "" "" "" "SLC12A2(NM_001046.3):c.300_308delGGCGGCGGC (p.A105_A107del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912197" "0" "90" "5" "127497485" "127497485" "subst" "0" "02327" "SLC12A2_000014" "g.127497485T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944316" "1" "90" "5" "127512829" "127512829" "subst" "0" "00006" "SLC12A2_000015" "g.127512829C>T" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128177137C>T" "" "pathogenic (dominant)" "" "0000972020" "0" "50" "5" "127450346" "127450346" "subst" "2.43829E-5" "04656" "SLC12A2_000016" "g.127450346A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.128114654A>G" "" "VUS" "" "0000976496" "0" "50" "5" "127419949" "127419954" "dup" "0" "01804" "SLC12A2_000017" "g.127419949_127419954dup" "" "" "" "SLC12A2(NM_001046.3):c.303_308dup (p.(Ala106_Ala107dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976497" "0" "50" "5" "127493857" "127493857" "subst" "0" "01804" "SLC12A2_000018" "g.127493857G>A" "" "" "" "SLC12A2(NM_001046.3):c.2475+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994590" "0" "30" "5" "127419735" "127419735" "subst" "0" "01804" "SLC12A2_000019" "g.127419735C>G" "" "" "" "SLC12A2(NM_001046.2):c.89C>G (p.(Ala30Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994591" "0" "30" "5" "127419759" "127419759" "subst" "0" "01804" "SLC12A2_000020" "g.127419759C>T" "" "" "" "SLC12A2(NM_001046.2):c.113C>T (p.(Ala38Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994592" "0" "30" "5" "127419948" "127419948" "subst" "0" "01804" "SLC12A2_000021" "g.127419948C>T" "" "" "" "SLC12A2(NM_001046.2):c.302C>T (p.(Ala101Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994593" "0" "50" "5" "127419963" "127419963" "subst" "0" "01804" "SLC12A2_000022" "g.127419963C>A" "" "" "" "SLC12A2(NM_001046.2):c.317C>A (p.(Ala106Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994594" "0" "50" "5" "127483327" "127483327" "subst" "0" "01804" "SLC12A2_000023" "g.127483327T>G" "" "" "" "SLC12A2(NM_001046.2):c.1787T>G (p.(Val596Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994595" "0" "30" "5" "127483338" "127483338" "subst" "0" "01804" "SLC12A2_000024" "g.127483338A>G" "" "" "" "SLC12A2(NM_001046.2):c.1798A>G (p.(Thr600Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994596" "0" "50" "5" "127486960" "127486960" "subst" "0" "01804" "SLC12A2_000025" "g.127486960A>G" "" "" "" "SLC12A2(NM_001046.2):c.2135A>G (p.(Asn712Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994597" "0" "30" "5" "127510323" "127510323" "subst" "3.71781E-5" "01804" "SLC12A2_000026" "g.127510323C>A" "" "" "" "SLC12A2(NM_001046.2):c.2894C>A (p.(Ser965Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994598" "0" "50" "5" "127516637" "127516637" "subst" "4.0662E-6" "01804" "SLC12A2_000027" "g.127516637A>G" "" "" "" "SLC12A2(NM_001046.2):c.3163A>G (p.(Arg1055Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994599" "0" "50" "5" "127520055" "127520055" "subst" "0" "01804" "SLC12A2_000028" "g.127520055A>C" "" "" "" "SLC12A2(NM_001046.2):c.3300-3A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014053" "0" "30" "5" "127419844" "127419844" "subst" "0" "02327" "SLC12A2_000029" "g.127419844C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034845" "0" "50" "5" "127419943" "127419954" "del" "0" "02325" "SLC12A2_000030" "g.127419943_127419954del" "" "" "" "SLC12A2(NM_001046.3):c.297_308delGGCGGCGGCGGC (p.A104_A107del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034846" "0" "50" "5" "127420337" "127420337" "subst" "0" "01804" "SLC12A2_000031" "g.127420337G>A" "" "" "" "SLC12A2(NM_001046.3):c.691G>A (p.(Ala231Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034847" "0" "30" "5" "127467242" "127467243" "ins" "0" "01804" "SLC12A2_000032" "g.127467242_127467243insG" "" "" "" "SLC12A2(NM_001046.3):c.1188+344_1188+345insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034848" "0" "30" "5" "127469977" "127469977" "subst" "0" "01804" "SLC12A2_000033" "g.127469977G>A" "" "" "" "SLC12A2(NM_001046.3):c.1299+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely 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 SLC12A2 ## Count = 34 "{{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}}" "0000079500" "00019099" "00" "-3591123" "0" "8388607" "0" "c.-3591123_*18194962dup" "" "" "" "0000330500" "00019099" "50" "156" "0" "156" "0" "c.156C>G" "r.(?)" "p.(Asp52Glu)" "" "0000337094" "00019099" "50" "2617" "-2" "2617" "-2" "c.2617-2A>G" "r.spl?" "p.?" "" "0000523982" "00019099" "50" "235" "0" "235" "0" "c.235A>C" "r.(?)" "p.(Ser79Arg)" "" "0000523983" "00019099" "30" "1014" "0" "1014" "0" "c.1014T>C" "r.(?)" "p.(Thr338=)" "" "0000523984" "00019099" "30" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Val450Ile)" "" "0000683534" "00019099" "70" "2617" "-2" "2617" "-2" "c.2617-2A>G" "r.spl" "p.?" "" "0000801840" "00019099" "30" "2322" "0" "2322" "0" "c.2322A>C" "r.(?)" "p.(Ser774=)" "" "0000859721" "00019099" "50" "899" "0" "899" "0" "c.899G>C" "r.(?)" "p.(Trp300Ser)" "" "0000859722" "00019099" "50" "3212" "4" "3212" "4" "c.3212+4A>C" "r.spl?" "p.?" "" "0000873893" "00019099" "50" "1076" "0" "1076" "0" "c.1076G>A" "r.(?)" "p.(Ser359Asn)" "" "0000886560" "00019099" "50" "2146" "0" "2146" "0" "c.2146T>C" "r.(?)" "p.(Ser716Pro)" "" "0000909828" "00019099" "90" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Glu979Lys)" "" "0000912196" "00019099" "50" "300" "0" "308" "0" "c.300_308del" "r.(?)" "p.(Ala105_Ala107del)" "" "0000912197" "00019099" "90" "2609" "0" "2609" "0" "c.2609T>A" "r.(?)" "p.(Leu870*)" "" "0000944316" "00019099" "90" "2962" "0" "2962" "0" "c.2962C>T" "r.(?)" "p.(Pro988Ser)" "" "0000972020" "00019099" "50" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Ile341Val)" "4" "0000976496" "00019099" "50" "303" "0" "308" "0" "c.303_308dup" "r.(?)" "p.(Ala106_Ala107dup)" "" "0000976497" "00019099" "50" "2475" "1" "2475" "1" "c.2475+1G>A" "r.spl?" "p.?" "" "0000994590" "00019099" "30" "89" "0" "89" "0" "c.89C>G" "r.(?)" "p.(Ala30Gly)" "" "0000994591" "00019099" "30" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Ala38Val)" "" "0000994592" "00019099" "30" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ala101Val)" "" "0000994593" "00019099" "50" "317" "0" "317" "0" "c.317C>A" "r.(?)" "p.(Ala106Glu)" "" "0000994594" "00019099" "50" "1787" "0" "1787" "0" "c.1787T>G" "r.(?)" "p.(Val596Gly)" "" "0000994595" "00019099" "30" "1798" "0" "1798" "0" "c.1798A>G" "r.(?)" "p.(Thr600Ala)" "" "0000994596" "00019099" "50" "2135" "0" "2135" "0" "c.2135A>G" "r.(?)" "p.(Asn712Ser)" "" "0000994597" "00019099" "30" "2894" "0" "2894" "0" "c.2894C>A" "r.(?)" "p.(Ser965Tyr)" "" "0000994598" "00019099" "50" "3163" "0" "3163" "0" "c.3163A>G" "r.(?)" "p.(Arg1055Gly)" "" "0000994599" "00019099" "50" "3300" "-3" "3300" "-3" "c.3300-3A>C" "r.spl?" "p.?" "" "0001014053" "00019099" "30" "198" "0" "198" "0" "c.198C>G" "r.(?)" "p.(Asp66Glu)" "" "0001034845" "00019099" "50" "297" "0" "308" "0" "c.297_308del" "r.(?)" "p.(Ala104_Ala107del)" "" "0001034846" "00019099" "50" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Ala231Thr)" "" "0001034847" "00019099" "30" "1188" "344" "1188" "345" "c.1188+344_1188+345insG" "r.(=)" "p.(=)" "" "0001034848" "00019099" "30" "1299" "10" "1299" "10" "c.1299+10G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500" "0000309072" "0000683534" "0000415984" "0000873893" "0000430093" "0000909828" "0000442960" "0000944316" "0000450088" "0000972020"