### 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" "00000" "2026-06-10 14:01:03" ## 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 = 9 "{{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" "01273" "hCK" "hyperCKemia (hCK, elevated serum creatine phosphokinase)" "AD" "123320" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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 = 25 "{{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" "" "" "" "" "00478476" "" "" "" "1" "" "00006" "{PMID:Kruijt 2021:32978841}" "patient" "" "" "Netherlands" "" "0" "" "" "" "VUS-Pat8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{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" "00478476" "01273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01157, 01178, 01273, 02182, 02183, 04282, 05443 ## Count = 20 "{{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" "" "0000362991" "01273" "00478476" "00006" "Unknown" "" "not specified" "" "" "" "" "" "" "" "" "" "rhabdomyolysis, hyperCKemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{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" "0000480123" "00478476" "1" "00006" "00006" "2026-05-07 19:40:02" "" "" "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 = 74 "{{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" "" "0001067703" "0" "10" "X" "55039960" "55039960" "subst" "0.00134282" "02325" "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" "" "" "" "" "" "" "" "benign" "" "0001067704" "0" "70" "X" "55046896" "55046896" "subst" "0" "02327" "ALAS2_000052" "g.55046896C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001068110" "0" "90" "X" "55035674" "55035677" "del" "0" "03779" "ALAS2_000053" "g.55035674_55035677del" "" "" "" "" "" "Unknown" "" "rs387906472" "0" "" "" "" "" "pathogenic" "" "0001074702" "0" "90" "X" "55057397" "55057397" "subst" "0" "03779" "ALAS2_000054" "g.55057397A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0001076203" "0" "50" "X" "55035659" "55035659" "subst" "0.000285568" "00006" "ALAS2_000016" "g.55035659G>A" "" "{PMID:Kruijt 2021:32978841}" "" "" "" "Germline" "" "" "0" "" "" "g.55009226G>A" "" "VUS" "" "0001078467" "0" "70" "X" "55043925" "55043925" "subst" "0" "03779" "ALAS2_000055" "g.55043925T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely 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 = 74 "{{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)" "" "0001067703" "00000527" "10" "1559" "0" "1559" "0" "c.1559C>T" "r.(?)" "p.(Pro520Leu)" "" "0001067704" "00000527" "70" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227His)" "" "0001068110" "00000527" "90" "1706" "0" "1709" "0" "c.1706_1709del" "r.(?)" "p.(Glu569GlyfsTer24)" "" "0001074702" "00000527" "90" "-38" "0" "-38" "0" "c.-38T>C" "r.(?)" "p.(?)" "" "0001076203" "00000527" "50" "1718" "0" "1718" "0" "c.1718C>T" "r.(?)" "p.(Ser573Phe)" "" "0001078467" "00000527" "70" "997" "0" "997" "0" "c.997A>G" "r.(?)" "p.(Met333Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 25 "{{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" "0000480123" "0001076203"