### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ALAS2) # 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}}" "ALAS2" "aminolevulinate, delta-, synthase 2" "X" "p11.21" "unknown" "NG_008983.1" "UD_132119146606" "" "https://www.LOVD.nl/ALAS2" "" "1" "397" "212" "301300" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ALAS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2017-03-05 21:14:13" "00006" "2025-11-13 13:04:16" ## 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}}" "00000527" "ALAS2" "transcript variant 1" "002" "NM_000032.4" "" "NP_000023.2" "" "" "" "-138" "1889" "1764" "55035488" "55057497" "00000" "2012-09-13 12:27:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01178" "AN" "aniridia (AN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-07-12 09:10:59" "02182" "SIDBA1;XLSA" "anemia, sideroblastic, type 1 (SIDBA-1, X-linked sideroblastic anemia (XLSA))" "XLR" "300751" "" "X-linked recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02183" "XLEPP" "protoporphyria, erythropoietic, X-linked (XLEPP)" "XL" "300752" "" "X-linked" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26" "05443" "SIDBA" "anemia, sideroblastic (SIDBA)" "" "" "" "" "" "00006" "2018-06-22 10:36:51" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ALAS2" "02182" "ALAS2" "02183" "ALAS2" "05443" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00039412" "" "" "" "1" "" "01158" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00165093" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00165116" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "F" "" "" "" "0" "" "" "" "21309041-Pat02" "00165117" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat03" "00165118" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "F" "" "" "" "0" "" "" "" "21309041-Pat04" "00165119" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat05" "00165120" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat06" "00165121" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat07" "00165122" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "F" "" "" "" "0" "" "" "" "21309041-Pat08" "00165123" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "F" "" "" "" "0" "" "" "" "21309041-Pat09" "00165124" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat10" "00165125" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat11" "00165126" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat12" "00165127" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "F" "" "" "" "0" "" "" "" "21309041-Pat13" "00165128" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat14" "00165129" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat15" "00165130" "" "" "" "1" "" "00002" "{PMID:Ducamp 2011:21309041}" "" "M" "" "" "" "0" "" "" "" "21309041-Pat16" "00295078" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295079" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295080" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305315" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00468601" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00039412" "00139" "00039412" "04282" "00165093" "01178" "00165116" "05443" "00165117" "05443" "00165118" "05443" "00165119" "05443" "00165120" "05443" "00165121" "05443" "00165122" "05443" "00165123" "05443" "00165124" "05443" "00165125" "05443" "00165126" "05443" "00165127" "05443" "00165128" "05443" "00165129" "05443" "00165130" "05443" "00295078" "00198" "00295079" "00198" "00295080" "00198" "00305315" "00198" "00468601" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 01178, 02182, 02183, 04282, 05443 ## Count = 19 "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000078840" "04282" "00039412" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000130013" "05443" "00165116" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130014" "05443" "00165117" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130015" "05443" "00165118" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130016" "05443" "00165119" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130017" "05443" "00165120" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130018" "05443" "00165121" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130019" "05443" "00165122" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130020" "05443" "00165123" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130021" "05443" "00165124" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130022" "05443" "00165125" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130023" "05443" "00165126" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130024" "05443" "00165127" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130025" "05443" "00165128" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130026" "05443" "00165129" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000130027" "05443" "00165130" "00002" "Unknown" "" "see paper; …" "" "" "" "" "" "" "" "" "SIDBA-1" "sideroblastic anemia" "" "0000353754" "00198" "00468601" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the musculoskeletal system" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000039654" "00039412" "1" "01158" "01158" "2015-06-15 15:57:47" "00006" "2015-06-16 20:55:33" "SEQ-NG" "DNA" "" "" "0000165965" "00165093" "1" "01741" "01741" "2018-06-22 09:13:25" "" "" "SEQ" "DNA" "" "" "0000165992" "00165116" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000165993" "00165117" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000165994" "00165118" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000165995" "00165119" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000165996" "00165120" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000165997" "00165121" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000165998" "00165122" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000165999" "00165123" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000166000" "00165124" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000166001" "00165125" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000166002" "00165126" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000166003" "00165127" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000166004" "00165128" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000166005" "00165129" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000166006" "00165130" "1" "00002" "00006" "2011-05-31 14:20:34" "" "" "SEQ" "DNA" "" "" "0000296246" "00295078" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296247" "00295079" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296248" "00295080" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306444" "00305315" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000470269" "00468601" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000039654" "ALAS2" "0000039654" "APOPT1" "0000039654" "SLC6A13" "0000165965" "ALAS2" "0000165992" "ALAS2" "0000165993" "ALAS2" "0000165994" "ALAS2" "0000165995" "ALAS2" "0000165996" "ALAS2" "0000165997" "ALAS2" "0000165998" "ALAS2" "0000165999" "ALAS2" "0000166000" "ALAS2" "0000166001" "ALAS2" "0000166002" "ALAS2" "0000166003" "ALAS2" "0000166004" "ALAS2" "0000166005" "ALAS2" "0000166006" "ALAS2" ## 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 = 68 "{{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}}" "0000006966" "20" "30" "X" "55041605" "55041605" "subst" "0" "00037" "ALAS2_000014" "g.55041605G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55015172G>A" "" "likely benign" "" "0000009048" "20" "30" "X" "55041605" "55041605" "subst" "0" "00037" "ALAS2_000014" "g.55041605G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.55015172G>A" "" "likely benign" "" "0000067286" "21" "30" "X" "55054238" "55054238" "subst" "0.00285041" "01158" "ALAS2_000015" "g.55054238C>T" "" "{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "NM_001037968.3:c.3G>A (p.?)" "not present in maternal uncle or grandfather" "Germline" "" "" "0" "" "" "g.55027805C>T" "" "likely benign" "" "0000262195" "0" "30" "X" "55041384" "55041384" "subst" "0" "01943" "ALAS2_000018" "g.55041384G>C" "" "" "" "ALAS2(NM_000032.5):c.1233C>G (p.R411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55014951G>C" "" "likely benign" "" "0000262196" "0" "30" "X" "55035701" "55035701" "subst" "0.00217562" "01943" "ALAS2_000017" "g.55035701C>T" "" "" "" "ALAS2(NM_000032.5):c.1676G>A (p.R559H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55009268C>T" "" "likely benign" "" "0000262197" "0" "30" "X" "55035659" "55035659" "subst" "0.000285568" "01943" "ALAS2_000016" "g.55035659G>A" "" "" "" "ALAS2(NM_000032.4):c.1718C>T (p.(Ser573Phe)), ALAS2(NM_000032.5):c.1718C>T (p.S573F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55009226G>A" "" "likely benign" "" "0000262198" "0" "30" "X" "55046923" "55046923" "subst" "0.000450143" "01943" "ALAS2_000021" "g.55046923C>T" "" "" "" "ALAS2(NM_000032.4):c.653G>A (p.(Arg218His)), ALAS2(NM_000032.5):c.653G>A (p.R218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55020490C>T" "" "likely benign" "" "0000262199" "0" "30" "X" "55054234" "55054234" "subst" "7.27892E-5" "01943" "ALAS2_000022" "g.55054234C>T" "" "" "" "ALAS2(NM_001037968.3):c.7G>A (p.G3R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55027801C>T" "" "likely benign" "" "0000262200" "0" "50" "X" "55044036" "55044036" "subst" "8.39043E-5" "01943" "ALAS2_000020" "g.55044036C>T" "" "" "" "ALAS2(NM_000032.5):c.886G>A (p.G296R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55017603C>T" "" "VUS" "" "0000262685" "0" "30" "X" "55033719" "55033719" "subst" "7.37957E-5" "01943" "APEX2_000005" "g.55033719G>A" "" "" "" "APEX2(NM_014481.3):c.1408G>A (p.G470R), APEX2(NM_014481.4):c.1408G>A (p.(Gly470Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55007286G>A" "" "likely benign" "" "0000334345" "0" "50" "X" "55033333" "55033333" "subst" "0.00324934" "01804" "APEX2_000004" "g.55033333G>A" "" "" "" "APEX2(NM_014481.3):c.1022G>A (p.(Arg341His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55006900G>A" "" "VUS" "" "0000334346" "0" "50" "X" "55034116" "55034116" "subst" "0" "01804" "APEX2_000006" "g.55034116C>T" "" "" "" "APEX2(NM_014481.3):c.*248C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55007683C>T" "" "VUS" "" "0000369797" "20" "70" "X" "55041262" "55041262" "subst" "0" "01741" "ALAS2_000023" "g.55041262C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55014829C>A" "" "likely pathogenic" "" "0000369851" "0" "90" "X" "55046923" "55046923" "subst" "0.000450143" "00002" "ALAS2_000002" "g.55046923C>T" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55020490C>T" "" "pathogenic" "" "0000369852" "0" "50" "X" "55046852" "55046852" "subst" "0" "00002" "ALAS2_000003" "g.55046852C>T" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55020419C>T" "" "VUS" "" "0000369853" "0" "90" "X" "55046789" "55046789" "subst" "0" "00002" "ALAS2_000004" "g.55046789C>T" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55020356C>T" "" "pathogenic" "" "0000369854" "0" "90" "X" "55042163" "55042163" "subst" "0" "00002" "ALAS2_000005" "g.55042163G>A" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55015730G>A" "" "pathogenic" "" "0000369855" "0" "90" "X" "55042056" "55042056" "subst" "0" "00002" "ALAS2_000006" "g.55042056G>A" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55015623G>A" "" "pathogenic" "" "0000369856" "0" "90" "X" "55041386" "55041386" "subst" "0" "00002" "ALAS2_000007" "g.55041386G>A" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55014953G>A" "" "pathogenic" "" "0000369857" "0" "90" "X" "55041385" "55041385" "subst" "0" "00002" "ALAS2_000008" "g.55041385C>T" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55014952C>T" "" "pathogenic" "" "0000369858" "0" "90" "X" "55041385" "55041385" "subst" "0" "00002" "ALAS2_000008" "g.55041385C>T" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55014952C>T" "" "pathogenic" "" "0000369859" "0" "70" "X" "55041263" "55041263" "subst" "0" "00002" "ALAS2_000010" "g.55041263G>C" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55014830G>C" "" "likely pathogenic" "" "0000369860" "0" "90" "X" "55041263" "55041263" "subst" "0" "00002" "ALAS2_000011" "g.55041263G>A" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55014830G>A" "" "pathogenic" "" "0000369861" "0" "90" "X" "55041263" "55041263" "subst" "0" "00002" "ALAS2_000011" "g.55041263G>A" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55014830G>A" "" "pathogenic" "" "0000369862" "0" "90" "X" "55039960" "55039960" "subst" "0.00134282" "00002" "ALAS2_000012" "g.55039960G>A" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55013527G>A" "" "pathogenic" "" "0000369863" "0" "70" "X" "55035662" "55035662" "subst" "0" "00002" "ALAS2_000013" "g.55035662C>T" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55009229C>T" "" "likely pathogenic" "" "0000369864" "0" "70" "X" "55035662" "55035662" "subst" "0" "00002" "ALAS2_000013" "g.55035662C>T" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55009229C>T" "" "likely pathogenic" "" "0000369865" "0" "70" "X" "55057407" "55057454" "del" "0" "00002" "ALAS2_000009" "g.55057407_55057454del" "" "{PMID:Ducamp 2011:21309041}" "" "" "" "Germline" "" "" "0" "" "" "g.55030974_55031021del" "" "likely pathogenic" "" "0000576777" "0" "30" "X" "55033621" "55033621" "subst" "0.000257628" "01804" "ALAS2_000024" "g.55033621A>T" "" "" "" "APEX2(NM_001271748.1):c.797A>T (p.(Lys266Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55007188A>T" "" "likely benign" "" "0000576779" "0" "10" "X" "55039960" "55039960" "subst" "0.00134282" "01943" "ALAS2_000012" "g.55039960G>A" "" "" "" "ALAS2(NM_000032.4):c.1559C>T (p.(Pro520Leu)), ALAS2(NM_000032.5):c.1559C>T (p.P520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55013527G>A" "" "benign" "" "0000576780" "0" "90" "X" "55041262" "55041262" "subst" "0" "02327" "ALAS2_000026" "g.55041262C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55014829C>T" "" "pathogenic" "" "0000576781" "0" "50" "X" "55041430" "55041430" "subst" "0" "02327" "ALAS2_000027" "g.55041430A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55014997A>G" "" "VUS" "" "0000576782" "0" "30" "X" "55042134" "55042134" "subst" "5.60111E-6" "01943" "ALAS2_000028" "g.55042134G>T" "" "" "" "ALAS2(NM_000032.5):c.1045C>A (p.Q349K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55015701G>T" "" "likely benign" "" "0000576784" "0" "30" "X" "55046923" "55046923" "subst" "0.000450143" "01804" "ALAS2_000002" "g.55046923C>T" "" "" "" "ALAS2(NM_000032.4):c.653G>A (p.(Arg218His)), ALAS2(NM_000032.5):c.653G>A (p.R218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55020490C>T" "" "likely benign" "" "0000576787" "0" "30" "X" "55054238" "55054238" "subst" "0.00285041" "01943" "ALAS2_000015" "g.55054238C>T" "" "" "" "ALAS2(NM_000032.4):c.-15-1790G>A (p.(=)), ALAS2(NM_001037968.3):c.3G>A (p.M1?), ALAS2(NM_001037968.4):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55027805C>T" "" "likely benign" "" "0000576788" "0" "10" "X" "55054238" "55054238" "subst" "0.00285041" "01804" "ALAS2_000015" "g.55054238C>T" "" "" "" "ALAS2(NM_000032.4):c.-15-1790G>A (p.(=)), ALAS2(NM_001037968.3):c.3G>A (p.M1?), ALAS2(NM_001037968.4):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55027805C>T" "" "benign" "" "0000576789" "0" "10" "X" "55054238" "55054238" "subst" "0.00285041" "02326" "ALAS2_000015" "g.55054238C>T" "" "" "" "ALAS2(NM_000032.4):c.-15-1790G>A (p.(=)), ALAS2(NM_001037968.3):c.3G>A (p.M1?), ALAS2(NM_001037968.4):c.3G>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55027805C>T" "" "benign" "" "0000619734" "0" "30" "X" "55035659" "55035659" "subst" "0.000285568" "01804" "ALAS2_000016" "g.55035659G>A" "" "" "" "ALAS2(NM_000032.4):c.1718C>T (p.(Ser573Phe)), ALAS2(NM_000032.5):c.1718C>T (p.S573F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55009226G>A" "" "likely benign" "" "0000619735" "0" "30" "X" "55044094" "55044094" "subst" "0.000397312" "01943" "ALAS2_000031" "g.55044094G>A" "" "" "" "ALAS2(NM_000032.5):c.828C>T (p.C276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55017661G>A" "" "likely benign" "" "0000619736" "0" "30" "X" "55051235" "55051235" "subst" "0.000386293" "01943" "ALAS2_000032" "g.55051235G>A" "" "" "" "ALAS2(NM_000032.5):c.220C>T (p.L74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55024802G>A" "" "likely benign" "" "0000619737" "0" "30" "X" "55051265" "55051265" "subst" "0.000145554" "01943" "ALAS2_000033" "g.55051265A>G" "" "" "" "ALAS2(NM_000032.5):c.190T>C (p.S64P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55024832A>G" "" "likely benign" "" "0000652935" "1" "30" "X" "55035659" "55035659" "subst" "0.000285568" "03575" "ALAS2_000016" "g.55035659G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201799139}" "Germline" "" "rs201799139" "0" "" "" "g.55009226G>A" "" "likely benign" "" "0000652936" "1" "50" "X" "55039960" "55039960" "subst" "0.00134282" "03575" "ALAS2_000012" "g.55039960G>A" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous; {DB:CLININrs201062903}" "Germline" "" "rs201062903" "0" "" "" "g.55013527G>A" "" "VUS" "" "0000652937" "1" "70" "X" "55042043" "55042043" "subst" "0" "03575" "ALAS2_000034" "g.55042043A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs863223903}" "Germline" "" "rs863223903" "0" "" "" "g.55015610A>G" "" "likely pathogenic" "" "0000659397" "0" "50" "X" "55040072" "55040072" "subst" "0" "02327" "ALAS2_000035" "g.55040072C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55013639C>T" "" "VUS" "" "0000659398" "0" "30" "X" "55051224" "55051224" "subst" "0.000744614" "01804" "ALAS2_000036" "g.55051224G>T" "" "" "" "ALAS2(NM_000032.4):c.231C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55024791G>T" "" "likely benign" "" "0000670132" "0" "50" "X" "55039960" "55039960" "subst" "0.00134282" "03575" "ALAS2_000012" "g.55039960G>A" "3/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 homozygous; {DB:CLININrs201062903}" "Germline" "" "rs201062903" "0" "" "" "g.55013527G>A" "" "VUS" "" "0000682549" "0" "30" "X" "55035693" "55035693" "subst" "0" "01943" "ALAS2_000037" "g.55035693C>T" "" "" "" "ALAS2(NM_001037968.3):c.1645G>A (p.V549I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682550" "0" "30" "X" "55039952" "55039952" "subst" "0.000191517" "01943" "ALAS2_000038" "g.55039952G>A" "" "" "" "ALAS2(NM_001037968.3):c.1528C>T (p.H510Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693676" "0" "50" "X" "55033505" "55033505" "subst" "1.69355E-5" "01943" "ALAS2_000039" "g.55033505G>T" "" "" "" "APEX2(NM_014481.3):c.1194G>T (p.Q398H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693677" "0" "30" "X" "55047692" "55047692" "subst" "5.6112E-5" "01943" "ALAS2_000029" "g.55047692C>T" "" "" "" "ALAS2(NM_001037968.3):c.392G>A (p.S131N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693678" "0" "30" "X" "55052313" "55052313" "subst" "0" "01943" "ALAS2_000040" "g.55052313G>C" "" "" "" "ALAS2(NM_001037968.3):c.193C>G (p.L65V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729073" "0" "30" "X" "55039959" "55039959" "subst" "0.00371553" "01943" "ALAS2_000041" "g.55039959G>T" "" "" "" "ALAS2(NM_001037968.3):c.1521C>A (p.P507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729074" "0" "50" "X" "55046923" "55046923" "subst" "0.000450143" "02329" "ALAS2_000002" "g.55046923C>T" "" "" "" "ALAS2(NM_000032.4):c.653G>A (p.(Arg218His)), ALAS2(NM_000032.5):c.653G>A (p.R218H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810551" "0" "30" "X" "55041181" "55041181" "subst" "0.000547201" "01943" "ALAS2_000042" "g.55041181C>T" "" "" "" "ALAS2(NM_001037968.3):c.1397G>A (p.R466Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810552" "0" "30" "X" "55041216" "55041216" "subst" "2.60429E-5" "01943" "ALAS2_000043" "g.55041216A>G" "" "" "" "ALAS2(NM_001037968.3):c.1362T>C (p.P454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896304" "0" "50" "X" "55044078" "55044078" "subst" "0.000290924" "02327" "ALAS2_000044" "g.55044078C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915745" "0" "90" "X" "55035662" "55035662" "subst" "0" "01804" "ALAS2_000013" "g.55035662C>T" "" "" "" "ALAS2(NM_000032.4):c.1715G>A (p.(Arg572His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931437" "0" "30" "X" "55040097" "55040097" "subst" "0.0157474" "02327" "ALAS2_000045" "g.55040097A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000971210" "0" "30" "X" "55051257" "55051257" "subst" "0.00349903" "02326" "ALAS2_000046" "g.55051257C>T" "" "" "" "ALAS2(NM_000032.5):c.198G>A (p.A66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984772" "0" "30" "X" "55033290" "55033290" "subst" "0.000353803" "01804" "ALAS2_000047" "g.55033290C>T" "" "" "" "APEX2(NM_014481.4):c.979C>T (p.(Arg327Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984773" "0" "30" "X" "55044094" "55044094" "subst" "0.000397312" "02325" "ALAS2_000031" "g.55044094G>A" "" "" "" "ALAS2(NM_000032.5):c.828C>T (p.C276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006880" "0" "30" "X" "55033693" "55033693" "subst" "0" "01804" "ALAS2_000048" "g.55033693C>T" "" "" "" "APEX2(NM_014481.3):c.1382C>T (p.(Ala461Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006881" "0" "30" "X" "55039960" "55039960" "subst" "0.00134282" "01804" "ALAS2_000012" "g.55039960G>A" "" "" "" "ALAS2(NM_000032.4):c.1559C>T (p.(Pro520Leu)), ALAS2(NM_000032.5):c.1559C>T (p.P520L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006882" "0" "50" "X" "55042114" "55042114" "subst" "0" "02327" "ALAS2_000049" "g.55042114G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006883" "0" "30" "X" "55057393" "55057393" "subst" "0.000293953" "01804" "ALAS2_000050" "g.55057393G>A" "" "" "" "ALAS2(NM_000032.4):c.-34C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044422" "0" "30" "X" "55033719" "55033719" "subst" "7.37957E-5" "01804" "APEX2_000005" "g.55033719G>A" "" "" "" "APEX2(NM_014481.3):c.1408G>A (p.G470R), APEX2(NM_014481.4):c.1408G>A (p.(Gly470Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058391" "0" "90" "X" "55047609" "55047609" "subst" "1.11991E-5" "00006" "ALAS2_000051" "g.55047609C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.55021176C>T" "" "pathogenic" "" ## 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 ALAS2 ## Count = 68 "{{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}}" "0000006966" "00000527" "30" "1169" "-157" "1169" "-157" "c.1169-157C>T" "r.(=)" "p.(=)" "8i" "0000009048" "00000527" "30" "1169" "-157" "1169" "-157" "c.1169-157C>T" "r.(=)" "p.(=)" "8i" "0000067286" "00000527" "30" "-15" "-1790" "-15" "-1790" "c.-15-1790G>A" "r.(=)" "p.(=)" "_1" "0000262195" "00000527" "30" "1233" "0" "1233" "0" "c.1233C>G" "r.(?)" "p.(Arg411=)" "" "0000262196" "00000527" "30" "1676" "0" "1676" "0" "c.1676G>A" "r.(?)" "p.(Arg559His)" "" "0000262197" "00000527" "30" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ser573Phe)" "" "0000262198" "00000527" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218His)" "" "0000262199" "00000527" "30" "-15" "-1786" "-15" "-1786" "c.-15-1786G>A" "r.(=)" "p.(=)" "" "0000262200" "00000527" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "" "0000262685" "00000527" "30" "3658" "0" "3658" "0" "c.*1894C>T" "r.(=)" "p.(=)" "" "0000334345" "00000527" "50" "4044" "0" "4044" "0" "c.*2280C>T" "r.(=)" "p.(=)" "" "0000334346" "00000527" "50" "3261" "0" "3261" "0" "c.*1497G>A" "r.(=)" "p.(=)" "" "0000369797" "00000527" "70" "1355" "0" "1355" "0" "c.1355G>T" "r.(?)" "p.(Arg452Leu)" "" "0000369851" "00000527" "90" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218His)" "6" "0000369852" "00000527" "50" "724" "0" "724" "0" "c.724G>A" "r.(?)" "p.(Glu242Lys)" "6" "0000369853" "00000527" "90" "787" "0" "787" "0" "c.787G>A" "r.(?)" "p.(Asp263Asn)" "6" "0000369854" "00000527" "90" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Pro339Leu)" "8" "0000369855" "00000527" "90" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375Cys)" "8" "0000369856" "00000527" "90" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Arg411Cys)" "9" "0000369857" "00000527" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411His)" "9" "0000369858" "00000527" "90" "1232" "0" "1232" "0" "c.1232G>A" "r.(?)" "p.(Arg411His)" "9" "0000369859" "00000527" "70" "1354" "0" "1354" "0" "c.1354C>G" "r.(?)" "p.(Arg452Gly)" "9" "0000369860" "00000527" "90" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452Cys)" "9" "0000369861" "00000527" "90" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452Cys)" "9" "0000369862" "00000527" "90" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "9" "0000369863" "00000527" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572His)" "11" "0000369864" "00000527" "70" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572His)" "11" "0000369865" "00000527" "70" "-91" "0" "-44" "0" "c.-91_-44del" "r.(?)" "p.(=)" "_1" "0000576777" "00000527" "30" "3756" "0" "3756" "0" "c.*1992T>A" "r.(=)" "p.(=)" "" "0000576779" "00000527" "10" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0000576780" "00000527" "90" "1355" "0" "1355" "0" "c.1355G>A" "r.(?)" "p.(Arg452His)" "" "0000576781" "00000527" "50" "1187" "0" "1187" "0" "c.1187T>C" "r.(?)" "p.(Val396Ala)" "" "0000576782" "00000527" "30" "1045" "0" "1045" "0" "c.1045C>A" "r.(?)" "p.(Gln349Lys)" "" "0000576784" "00000527" "30" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218His)" "" "0000576787" "00000527" "30" "-15" "-1790" "-15" "-1790" "c.-15-1790G>A" "r.(=)" "p.(=)" "" "0000576788" "00000527" "10" "-15" "-1790" "-15" "-1790" "c.-15-1790G>A" "r.(=)" "p.(=)" "" "0000576789" "00000527" "10" "-15" "-1790" "-15" "-1790" "c.-15-1790G>A" "r.(=)" "p.(=)" "" "0000619734" "00000527" "30" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ser573Phe)" "" "0000619735" "00000527" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Cys276=)" "" "0000619736" "00000527" "30" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Leu74=)" "" "0000619737" "00000527" "30" "190" "0" "190" "0" "c.190T>C" "r.(?)" "p.(Ser64Pro)" "" "0000652935" "00000527" "30" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ser573Phe)" "" "0000652936" "00000527" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0000652937" "00000527" "70" "1136" "0" "1136" "0" "c.1136T>C" "r.(?)" "p.(Met379Thr)" "" "0000659397" "00000527" "50" "1447" "0" "1447" "0" "c.1447G>A" "r.(?)" "p.(Ala483Thr)" "" "0000659398" "00000527" "30" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Leu77=)" "" "0000670132" "00000527" "50" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0000682549" "00000527" "30" "1684" "0" "1684" "0" "c.1684G>A" "r.(?)" "p.(Val562Ile)" "" "0000682550" "00000527" "30" "1567" "0" "1567" "0" "c.1567C>T" "r.(?)" "p.(His523Tyr)" "" "0000693676" "00000527" "50" "3872" "0" "3872" "0" "c.*2108C>A" "r.(=)" "p.(=)" "" "0000693677" "00000527" "30" "431" "0" "431" "0" "c.431G>A" "r.(?)" "p.(Ser144Asn)" "" "0000693678" "00000527" "30" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Leu41Val)" "" "0000729073" "00000527" "30" "1560" "0" "1560" "0" "c.1560C>A" "r.(?)" "p.(Pro520=)" "" "0000729074" "00000527" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218His)" "" "0000810551" "00000527" "30" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479Gln)" "" "0000810552" "00000527" "30" "1401" "0" "1401" "0" "c.1401T>C" "r.(?)" "p.(Pro467=)" "" "0000896304" "00000527" "50" "844" "0" "844" "0" "c.844G>T" "r.(?)" "p.(Ala282Ser)" "" "0000915745" "00000527" "90" "1715" "0" "1715" "0" "c.1715G>A" "r.(?)" "p.(Arg572His)" "" "0000931437" "00000527" "30" "1438" "-16" "1438" "-16" "c.1438-16T>G" "r.(=)" "p.(=)" "" "0000971210" "00000527" "30" "198" "0" "198" "0" "c.198G>A" "r.(?)" "p.(=)" "" "0000984772" "00000527" "30" "4087" "0" "4087" "0" "c.*2323G>A" "r.(=)" "p.(=)" "" "0000984773" "00000527" "30" "828" "0" "828" "0" "c.828C>T" "r.(?)" "p.(Cys276=)" "" "0001006880" "00000527" "30" "3684" "0" "3684" "0" "c.*1920G>A" "r.(=)" "p.(=)" "" "0001006881" "00000527" "30" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0001006882" "00000527" "50" "1065" "0" "1065" "0" "c.1065C>A" "r.(?)" "p.(Phe355Leu)" "" "0001006883" "00000527" "30" "-34" "0" "-34" "0" "c.-34C>T" "r.(?)" "p.(=)" "" "0001044422" "00000527" "30" "3658" "0" "3658" "0" "c.*1894C>T" "r.(=)" "p.(=)" "" "0001058391" "00000527" "90" "514" "0" "514" "0" "c.514G>A" "r.(?)" "p.(Ala172Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000000209" "0000006966" "0000000210" "0000009048" "0000039654" "0000067286" "0000165965" "0000369797" "0000165992" "0000369851" "0000165993" "0000369852" "0000165994" "0000369853" "0000165995" "0000369854" "0000165996" "0000369855" "0000165997" "0000369856" "0000165998" "0000369857" "0000165999" "0000369858" "0000166000" "0000369859" "0000166001" "0000369860" "0000166002" "0000369861" "0000166003" "0000369862" "0000166004" "0000369863" "0000166005" "0000369864" "0000166006" "0000369865" "0000296246" "0000652935" "0000296247" "0000652936" "0000296248" "0000652937" "0000306444" "0000670132" "0000470269" "0001058391"