### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STAR) # 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}}" "STAR" "steroidogenic acute regulatory protein" "8" "p11.2" "unknown" "NG_011827.1" "UD_132118697818" "" "https://www.LOVD.nl/STAR" "" "1" "11359" "6770" "600617" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/STAR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-03 12:31:00" "00000" "2025-07-08 13:22:38" ## 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}}" "00020423" "STAR" "steroidogenic acute regulatory protein" "001" "NM_000349.2" "" "NP_000340.2" "" "" "" "-264" "2431" "858" "38008600" "38000218" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01627" "LCAH" "hyperplasia, adrenal, lipoid, congenital (LCAH)" "AR" "201710" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03413" "-" "adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete" "" "613743" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-10-03 10:44:38" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" "07052" "adrenal hyperplasia" "adrenal hyperplasia, congenital, not due to 21-hydroxylase deficiency" "" "" "" "" "" "00006" "2023-12-24 11:17:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "STAR" "01627" ## Individuals ## Do not remove or alter this header ## ## Count = 41 "{{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}}" "00231488" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat149" "00294629" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306120" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "55" "00417410" "" "" "" "1" "" "01864" "" "" "" "" "" "" "0" "" "" "" "" "00417411" "" "" "" "1" "" "01864" "" "" "" "" "(China)" "" "" "" "" "" "" "00417412" "" "" "" "1" "" "01864" "" "" "" "" "China" "" "" "" "" "" "" "00417413" "" "" "" "1" "" "01864" "" "" "" "" "" "" "" "" "" "" "" "00417426" "" "" "" "1" "" "01864" "" "" "" "" "" "" "" "" "" "" "" "00444387" "" "" "" "2" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat1" "00444388" "" "" "" "2" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat2" "00444389" "" "" "" "2" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat3" "00444390" "" "" "" "3" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat4" "00444391" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat5" "00444392" "" "" "" "2" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat6" "00444393" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat7" "00444394" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat8" "00444395" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat9" "00444396" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat10" "00444397" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat11" "00444398" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat12" "00444399" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat13" "00444400" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat14" "00444401" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat15" "00444402" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat16" "00444403" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat17" "00444404" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat18" "00444405" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat19" "00444406" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat20" "00444407" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat21" "00444408" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat22" "00444409" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat23" "00444410" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat24" "00444411" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat25" "00444412" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat26" "00444413" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat27" "00444414" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat28" "00444415" "" "" "" "1" "" "00006" "{PMID:Duan 2023:37586839}" "patient" "" "" "China" "" "0" "" "" "" "Pat29" "00444416" "" "" "" "2" "" "00006" "{PMID:Duan 2023:37586839}" "family, 2 affected" "" "" "China" "" "0" "" "" "" "Pat30a" "00444417" "" "" "00444416" "1" "" "00006" "{PMID:Duan 2023:37586839}" "relative" "" "" "China" "" "0" "" "" "" "Pat30b" "00444418" "" "" "" "2" "" "00006" "{PMID:Duan 2023:37586839}" "family, 2 affected" "" "" "China" "" "0" "" "" "" "Pat31a" "00444419" "" "" "00444418" "1" "" "00006" "{PMID:Duan 2023:37586839}" "relative" "" "" "China" "" "0" "" "" "" "Pat31b" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 41 "{{individualid}}" "{{diseaseid}}" "00231488" "05597" "00294629" "00198" "00306120" "01627" "00417410" "03413" "00417411" "03413" "00417412" "03413" "00417413" "03413" "00417426" "03413" "00444387" "07052" "00444388" "07052" "00444389" "07052" "00444390" "07052" "00444391" "07052" "00444392" "07052" "00444393" "07052" "00444394" "07052" "00444395" "07052" "00444396" "07052" "00444397" "07052" "00444398" "07052" "00444399" "07052" "00444400" "07052" "00444401" "07052" "00444402" "07052" "00444403" "07052" "00444404" "07052" "00444405" "07052" "00444406" "07052" "00444407" "07052" "00444408" "07052" "00444409" "07052" "00444410" "07052" "00444411" "07052" "00444412" "07052" "00444413" "07052" "00444414" "07052" "00444415" "07052" "00444416" "07052" "00444417" "07052" "00444418" "07052" "00444419" "07052" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01627, 03413, 05597, 07052 ## Count = 39 "{{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}}" "0000173879" "05597" "00231488" "00006" "Unknown" "" "disorder of sex development, adrenal hypoplasia" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000231961" "01627" "00306120" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308897" "03413" "00417410" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308898" "03413" "00417411" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308899" "03413" "00417413" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000308912" "03413" "00417426" "01864" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333640" "07052" "00444387" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "6m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333641" "07052" "00444388" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "2m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333642" "07052" "00444389" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "20d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333643" "07052" "00444390" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; vomiting; prolonged jaundice; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333644" "07052" "00444391" "00006" "Familial, autosomal recessive" "" "dehydration; vomiting; diarrhea; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "2m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333645" "07052" "00444392" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333646" "07052" "00444393" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "3d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333647" "07052" "00444394" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333648" "07052" "00444395" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "10d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333649" "07052" "00444396" "00006" "Familial, autosomal recessive" "" "dehydration; vomiting; diarrhea; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "2m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333650" "07052" "00444397" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333651" "07052" "00444398" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; prolonged jaundice; no hyponatremia; no hyperkalemia; hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333652" "07052" "00444399" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "4m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333653" "07052" "00444400" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "6m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333654" "07052" "00444401" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "3m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333655" "07052" "00444402" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "18d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333656" "07052" "00444403" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; ambiguous external genitalia; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "10d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333657" "07052" "00444404" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; diarrhea; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333658" "07052" "00444405" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "3d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333659" "07052" "00444406" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333660" "07052" "00444407" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "23d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333661" "07052" "00444408" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; vomiting; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333662" "07052" "00444409" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; prolonged jaundice; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333663" "07052" "00444410" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting ; weight loss; small penis; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "1m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333664" "07052" "00444411" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; vomiting; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "6m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333665" "07052" "00444412" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; vomiting; weight loss; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "1m9d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333666" "07052" "00444413" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; weight loss; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "3d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333667" "07052" "00444414" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting; weight loss; fatigue; hyponatremia; hyperkalemia; hypoglycemia; no elevated 17OHP" "7d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333668" "07052" "00444415" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; vomiting ; weight loss; convulsion; hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "13m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333669" "07052" "00444416" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; prolonged jaundice; weight loss; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333670" "07052" "00444417" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; no hyponatremia; hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333671" "07052" "00444418" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; dehydration; convulsions; fever; hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "3y6m" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" "0000333672" "07052" "00444419" "00006" "Familial, autosomal recessive" "" "hyperpigmentation; no hyponatremia; no hyperkalemia; no hypoglycemia; no elevated 17OHP" "1d" "" "" "" "" "" "" "" "LCAH" "childhood-onset primary adrenal insufficiency" "" ## Screenings ## Do not remove or alter this header ## ## Count = 41 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000232587" "00231488" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000295797" "00294629" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307249" "00306120" "1" "03695" "03695" "2020-07-08 14:44:32" "" "" "SEQ-NG" "DNA" "" "" "0000418703" "00417410" "1" "01864" "01864" "2022-09-16 08:50:25" "" "" "?" "DNA" "" "" "0000418704" "00417411" "1" "01864" "01864" "2022-09-16 11:01:31" "" "" "SEQ-NG" "DNA" "" "" "0000418705" "00417412" "1" "01864" "01864" "2022-09-16 11:23:00" "" "" "SEQ" "DNA" "" "" "0000418706" "00417413" "1" "01864" "01864" "2022-09-16 11:40:07" "" "" "SEQ-NG" "DNA" "" "" "0000418719" "00417426" "1" "01864" "01864" "2022-09-16 11:48:05" "" "" "SEQ" "DNA" "" "" "0000445955" "00444387" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445956" "00444388" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445957" "00444389" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445958" "00444390" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445959" "00444391" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445960" "00444392" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445961" "00444393" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445962" "00444394" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445963" "00444395" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445964" "00444396" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445965" "00444397" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445966" "00444398" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445967" "00444399" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445968" "00444400" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445969" "00444401" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445970" "00444402" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445971" "00444403" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445972" "00444404" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445973" "00444405" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445974" "00444406" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445975" "00444407" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445976" "00444408" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445977" "00444409" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445978" "00444410" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445979" "00444411" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445980" "00444412" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445981" "00444413" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445982" "00444414" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445983" "00444415" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445984" "00444416" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445985" "00444417" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" "0000445986" "00444418" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000445987" "00444419" "1" "00006" "00006" "2023-12-24 11:42:22" "" "" "PCR;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000232587" "STAR" "0000307249" "STAR" "0000418703" "STAR" "0000418704" "STAR" "0000418705" "STAR" "0000418706" "STAR" "0000418719" "STAR" "0000445955" "STAR" "0000445956" "STAR" "0000445957" "STAR" "0000445958" "STAR" "0000445959" "STAR" "0000445960" "STAR" "0000445961" "STAR" "0000445962" "STAR" "0000445963" "STAR" "0000445964" "STAR" "0000445965" "STAR" "0000445966" "STAR" "0000445967" "STAR" "0000445968" "STAR" "0000445969" "STAR" "0000445970" "STAR" "0000445971" "STAR" "0000445972" "STAR" "0000445973" "STAR" "0000445974" "STAR" "0000445975" "STAR" "0000445976" "STAR" "0000445977" "STAR" "0000445978" "STAR" "0000445979" "STAR" "0000445980" "STAR" "0000445981" "STAR" "0000445982" "STAR" "0000445983" "STAR" "0000445984" "STAR" "0000445985" "STAR" "0000445986" "STAR" "0000445987" "STAR" ## 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 = 94 "{{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}}" "0000311578" "0" "10" "8" "38003787" "38003787" "subst" "0.981075" "02325" "STAR_000006" "g.38003787T>C" "" "" "" "STAR(NM_000349.3):c.465+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38146269T>C" "" "benign" "" "0000314157" "0" "70" "8" "38003569" "38003569" "subst" "4.87448E-5" "02326" "STAR_000004" "g.38003569G>A" "" "" "" "STAR(NM_000349.3):c.562C>T (p.R188C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38146051G>A" "" "likely pathogenic" "" "0000315775" "0" "50" "8" "38003911" "38003911" "subst" "0.00173038" "01943" "STAR_000007" "g.38003911G>A" "" "" "" "STAR(NM_000349.2):c.361C>T (p.R121W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38146393G>A" "" "VUS" "" "0000315776" "0" "50" "8" "38003586" "38003586" "subst" "0" "01943" "STAR_000005" "g.38003586C>T" "" "" "" "STAR(NM_000349.2):c.545G>A (p.R182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38146068C>T" "" "VUS" "" "0000315777" "0" "30" "8" "38003562" "38003562" "subst" "0" "01943" "STAR_000003" "g.38003562G>A" "" "" "" "STAR(NM_000349.2):c.569C>T (p.A190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38146044G>A" "" "likely benign" "" "0000315778" "0" "30" "8" "38002797" "38002797" "subst" "0.000730935" "01943" "STAR_000002" "g.38002797C>T" "" "" "" "STAR(NM_000349.2):c.687G>A (p.P229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38145279C>T" "" "likely benign" "" "0000315779" "0" "50" "8" "38001829" "38001829" "subst" "6.77972E-5" "01943" "STAR_000001" "g.38001829G>A" "" "" "" "STAR(NM_000349.2):c.820C>T (p.R274C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38144311G>A" "" "VUS" "" "0000332095" "0" "50" "8" "38008279" "38008279" "subst" "0" "01804" "STAR_000008" "g.38008279T>A" "" "" "" "STAR(NM_000349.2):c.58A>T (p.(Met20Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38150761T>A" "" "VUS" "" "0000343946" "0" "50" "8" "38003644" "38003644" "subst" "0" "02327" "STAR_000009" "g.38003644C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38146126C>G" "" "VUS" "" "0000349695" "0" "90" "8" "38003831" "38003831" "subst" "0" "02327" "STAR_000010" "g.38003831C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.38146313C>T" "" "pathogenic" "" "0000475090" "1" "90" "8" "38002765" "38002765" "del" "1.21821E-5" "00006" "STAR_000011" "g.38002765del" "" "{PMID:Eggers 2016:27899157}" "" "NM_000349:c.719delC" "" "Germline" "" "" "0" "" "46,XY" "g.38145247del" "" "pathogenic" "" "0000475091" "0" "90" "8" "38001858" "38001858" "subst" "0" "00006" "STAR_000012" "g.38001858T>C" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.38144340T>C" "" "pathogenic" "" "0000534714" "0" "30" "8" "37996506" "37996506" "subst" "0" "01804" "ASH2L_000002" "g.37996506G>A" "" "" "" "ASH2L(NM_001105214.2):c.1522G>A (p.(Val508Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38138988G>A" "" "likely benign" "" "0000534715" "0" "10" "8" "38005835" "38005835" "subst" "0.998948" "02325" "STAR_000013" "g.38005835T>C" "" "" "" "STAR(NM_000349.3):c.189A>G (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38148317=" "" "benign" "" "0000534716" "0" "30" "8" "38006217" "38006217" "subst" "0.0024919" "01943" "STAR_000014" "g.38006217C>T" "" "" "" "STAR(NM_000349.2):c.120G>A (p.L40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38148699C>T" "" "likely benign" "" "0000534717" "0" "30" "8" "38008406" "38008406" "subst" "0" "02327" "STAR_000015" "g.38008406C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38150888C>A" "" "likely benign" "" "0000611609" "0" "50" "8" "38003670" "38003670" "subst" "0.0010951" "01943" "STAR_000016" "g.38003670C>T" "" "" "" "STAR(NM_000349.2):c.466-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.38146152C>T" "" "VUS" "" "0000652486" "1" "90" "8" "38003569" "38003569" "subst" "4.87448E-5" "03575" "STAR_000004" "g.38003569G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs104894090}" "Germline" "" "rs104894090" "0" "" "" "g.38146051G>A" "" "pathogenic" "" "0000673835" "0" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "03695" "STAR_000017" "g.38001877G>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "" "0000673836" "0" "70" "8" "38003575" "38003575" "subst" "0" "03695" "STAR_000018" "g.38003575T>C" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721967" "0" "30" "8" "38006160" "38006160" "subst" "0.000475997" "01943" "STAR_000019" "g.38006160G>A" "" "" "" "STAR(NM_000349.2):c.177C>T (p.L59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000878533" "21" "70" "8" "38001905" "38001905" "subst" "0" "01864" "STAR_000020" "g.38001905C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.38144387C>T" "" "likely pathogenic" "ACMG" "0000878539" "21" "50" "8" "38005860" "38005860" "subst" "0" "01864" "STAR_000024" "g.38005860G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "ACMG" "0000878542" "11" "70" "8" "38003805" "38003805" "subst" "0" "01864" "STAR_000022" "g.38003805T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000878543" "11" "70" "8" "38005847" "38005847" "subst" "0" "01864" "STAR_000023" "g.38005847A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000878556" "11" "70" "8" "38002739" "38002739" "subst" "0" "01864" "STAR_000021" "g.38002739G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000954165" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954166" "3" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954167" "21" "90" "8" "38002772" "38002772" "del" "0" "00006" "STAR_000027" "g.38002772del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38145254del" "" "pathogenic" "ACMG" "0000954168" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954169" "21" "70" "8" "38003622" "38003622" "subst" "0" "00006" "STAR_000032" "g.38003622A>G" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146104A>G" "" "likely pathogenic" "ACMG" "0000954170" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954171" "21" "70" "8" "38003575" "38003575" "subst" "0" "00006" "STAR_000018" "g.38003575T>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146057T>C" "" "likely pathogenic" "ACMG" "0000954172" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954173" "21" "90" "8" "38005795" "38005795" "subst" "8.1246E-6" "00006" "STAR_000036" "g.38005795G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148277G>A" "" "pathogenic" "ACMG" "0000954174" "21" "90" "8" "38005795" "38005795" "subst" "8.1246E-6" "00006" "STAR_000036" "g.38005795G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148277G>A" "" "pathogenic" "ACMG" "0000954175" "21" "90" "8" "38003587" "38003587" "subst" "1.62504E-5" "00006" "STAR_000031" "g.38003587G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146069G>A" "" "pathogenic" "ACMG" "0000954176" "21" "70" "8" "38001905" "38001905" "subst" "0" "00006" "STAR_000020" "g.38001905C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144387C>T" "" "likely pathogenic" "ACMG" "0000954177" "21" "90" "8" "38005795" "38005795" "subst" "8.1246E-6" "00006" "STAR_000036" "g.38005795G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148277G>A" "" "pathogenic" "ACMG" "0000954178" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954179" "3" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954180" "21" "50" "8" "38005860" "38005860" "subst" "2.4423E-5" "00006" "STAR_000024" "g.38005860G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148342G>A" "" "VUS" "ACMG" "0000954181" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954182" "3" "90" "8" "38003586" "38003586" "subst" "0" "00006" "STAR_000005" "g.38003586C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146068C>T" "" "pathogenic" "ACMG" "0000954183" "21" "90" "8" "38003587" "38003587" "subst" "1.62504E-5" "00006" "STAR_000031" "g.38003587G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146069G>A" "" "pathogenic" "ACMG" "0000954184" "1" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954185" "0" "90" "8" "38008272" "38008600" "del" "0" "00006" "STAR_000039" "g.(38006273_38008272)_(38008600_?)del" "" "{PMID:Duan 2023:37586839}" "" "1_65del" "" "De novo" "" "" "0" "" "" "g.(38148755_38150754)_(38151082_?)del" "" "pathogenic" "ACMG" "0000954186" "1" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954187" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954188" "21" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954189" "21" "90" "8" "38003569" "38003569" "subst" "4.87448E-5" "00006" "STAR_000004" "g.38003569G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146051G>A" "" "pathogenic" "ACMG" "0000954190" "21" "90" "8" "38001811" "38001811" "del" "0" "00006" "STAR_000025" "g.38001811del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144293del" "" "pathogenic" "ACMG" "0000954191" "21" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954192" "3" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954193" "3" "70" "8" "38005789" "38005789" "subst" "0" "00006" "STAR_000035" "g.38005789C>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148271C>A" "" "likely pathogenic" "ACMG" "0000954194" "21" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954195" "21" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954196" "21" "90" "8" "38005795" "38005795" "subst" "8.1246E-6" "00006" "STAR_000036" "g.38005795G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148277G>A" "" "pathogenic" "ACMG" "0000954197" "21" "90" "8" "38005795" "38005795" "subst" "8.1246E-6" "00006" "STAR_000036" "g.38005795G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148277G>A" "" "pathogenic" "ACMG" "0000954276" "11" "70" "8" "38002765" "38002765" "del" "1.21821E-5" "00006" "STAR_000011" "g.38002765del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38145247del" "" "likely pathogenic" "ACMG" "0000954277" "11" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954278" "11" "90" "8" "38003554" "38003554" "subst" "8.12407E-6" "00006" "STAR_000030" "g.38003554G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146036G>A" "" "pathogenic" "ACMG" "0000954279" "11" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954280" "11" "90" "8" "38002790" "38002790" "del" "0" "00006" "STAR_000029" "g.38002790del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38145272del" "" "pathogenic" "ACMG" "0000954281" "11" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954282" "11" "70" "8" "38003805" "38003805" "subst" "0" "00006" "STAR_000022" "g.38003805A>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146287A>T" "" "likely pathogenic" "ACMG" "0000954283" "11" "90" "8" "38005826" "38005827" "del" "0" "00006" "STAR_000037" "g.38005826_38005827del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148308_38148309del" "" "pathogenic" "ACMG" "0000954284" "11" "90" "8" "38003587" "38003587" "subst" "1.62504E-5" "00006" "STAR_000031" "g.38003587G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146069G>A" "" "pathogenic" "ACMG" "0000954285" "11" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954286" "11" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954287" "11" "70" "8" "38002776" "38002777" "delins" "0" "00006" "STAR_000028" "g.38002776_38002777delinsAAG" "" "{PMID:Duan 2023:37586839}" "" "707_708delAGinsCTT" "" "Germline" "" "" "0" "" "" "g.38145258_38145259delinsAAG" "" "likely pathogenic" "ACMG" "0000954288" "11" "90" "8" "38003569" "38003569" "subst" "4.87448E-5" "00006" "STAR_000004" "g.38003569G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146051G>A" "" "pathogenic" "ACMG" "0000954289" "11" "90" "8" "38001877" "38001877" "subst" "5.25366E-5" "00006" "STAR_000017" "g.38001877G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38144359G>A" "" "pathogenic" "ACMG" "0000954290" "11" "90" "8" "38005826" "38005827" "del" "0" "00006" "STAR_000037" "g.38005826_38005827del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148308_38148309del" "" "pathogenic" "ACMG" "0000954291" "11" "70" "8" "38002772" "38002772" "del" "0" "00006" "STAR_000027" "g.38002772del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38145254del" "" "likely pathogenic" "ACMG" "0000954292" "2" "70" "8" "38003575" "38003575" "subst" "0" "00006" "STAR_000018" "g.38003575T>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38146057T>C" "" "likely pathogenic" "ACMG" "0000954293" "11" "70" "8" "38005847" "38005847" "subst" "0" "00006" "STAR_000023" "g.38005847T>G" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148329T>G" "" "likely pathogenic" "ACMG" "0000954294" "2" "70" "8" "38002771" "38002772" "del" "0" "00006" "STAR_000026" "g.38002771_38002772del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.38145253_38145254del" "" "likely pathogenic" "ACMG" "0000954295" "11" "90" "8" "38006217" "38006217" "del" "0" "00006" "STAR_000038" "g.38006217del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148699del" "" "pathogenic" "ACMG" "0000954296" "11" "70" "8" "38003640" "38003640" "subst" "0" "00006" "STAR_000033" "g.38003640G>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146122G>T" "" "likely pathogenic" "ACMG" "0000954297" "11" "70" "8" "38002739" "38002739" "subst" "0" "00006" "STAR_000021" "g.38002739C>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38145221C>T" "" "likely pathogenic" "ACMG" "0000954298" "11" "90" "8" "38005795" "38005795" "subst" "8.1246E-6" "00006" "STAR_000036" "g.38005795G>A" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38148277G>A" "" "pathogenic" "ACMG" "0000954299" "11" "90" "8" "38002772" "38002772" "del" "0" "00006" "STAR_000027" "g.38002772del" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38145254del" "" "pathogenic" "ACMG" "0000954300" "11" "70" "8" "38003805" "38003805" "subst" "0" "00006" "STAR_000022" "g.38003805A>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146287A>T" "" "likely pathogenic" "ACMG" "0000954301" "11" "70" "8" "38003805" "38003805" "subst" "0" "00006" "STAR_000022" "g.38003805A>T" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146287A>T" "" "likely pathogenic" "ACMG" "0000954302" "11" "70" "8" "38003914" "38003914" "subst" "0" "00006" "STAR_000034" "g.38003914A>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146396A>C" "" "likely pathogenic" "ACMG" "0000954303" "11" "70" "8" "38003914" "38003914" "subst" "0" "00006" "STAR_000034" "g.38003914A>C" "" "{PMID:Duan 2023:37586839}" "" "" "" "Germline" "" "" "0" "" "" "g.38146396A>C" "" "likely pathogenic" "ACMG" "0000964986" "0" "70" "8" "38001858" "38001858" "subst" "0" "02327" "STAR_000012" "g.38001858T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978191" "0" "50" "8" "38005840" "38005840" "subst" "0.00017883" "01804" "STAR_000040" "g.38005840G>A" "" "" "" "STAR(NM_000349.3):c.184C>T (p.(Arg62Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036946" "0" "50" "8" "38002807" "38002807" "subst" "8.52826E-5" "01804" "STAR_000041" "g.38002807A>G" "" "" "" "STAR(NM_000349.3):c.677T>C (p.(Val226Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036947" "0" "50" "8" "38002832" "38002832" "subst" "0" "01804" "STAR_000042" "g.38002832C>T" "" "" "" "STAR(NM_000349.3):c.652G>A (p.(Ala218Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036948" "0" "50" "8" "38003544" "38003544" "subst" "4.06187E-6" "01804" "STAR_000043" "g.38003544G>A" "" "" "" "STAR(NM_000349.3):c.587C>T (p.(Thr196Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036949" "0" "30" "8" "38005708" "38005708" "subst" "0.000414368" "01804" "STAR_000044" "g.38005708C>T" "" "" "" "STAR(NM_000349.3):c.306+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046161" "0" "50" "8" "38003488" "38003488" "subst" "0" "02325" "STAR_000045" "g.38003488C>T" "" "" "" "STAR(NM_000349.3):c.643G>A (p.V215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes STAR ## Count = 94 "{{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}}" "0000311578" "00020423" "10" "465" "20" "465" "20" "c.465+20A>G" "r.(=)" "p.(=)" "" "0000314157" "00020423" "70" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000315775" "00020423" "50" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000315776" "00020423" "50" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "0000315777" "00020423" "30" "569" "0" "569" "0" "c.569C>T" "r.(?)" "p.(Ala190Val)" "" "0000315778" "00020423" "30" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Pro229=)" "" "0000315779" "00020423" "50" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Arg274Cys)" "" "0000332095" "00020423" "50" "58" "0" "58" "0" "c.58A>T" "r.(?)" "p.(Met20Leu)" "" "0000343946" "00020423" "50" "487" "0" "487" "0" "c.487G>C" "r.(?)" "p.(Asp163His)" "" "0000349695" "00020423" "90" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Trp147Ter)" "" "0000475090" "00020423" "90" "719" "0" "719" "0" "c.719del" "r.(?)" "p.(Thr240Serfs*81)" "" "0000475091" "00020423" "90" "791" "0" "791" "0" "c.791A>G" "r.(?)" "p.(Gln264Arg)" "" "0000534714" "00020423" "30" "6143" "0" "6143" "0" "c.*5285C>T" "r.(=)" "p.(=)" "" "0000534715" "00020423" "10" "189" "0" "189" "0" "c.189=" "r.(=)" "p.(Leu63=)" "" "0000534716" "00020423" "30" "120" "0" "120" "0" "c.120G>A" "r.(?)" "p.(Leu40=)" "" "0000534717" "00020423" "30" "-70" "0" "-70" "0" "c.-70G>T" "r.(?)" "p.(=)" "" "0000611609" "00020423" "50" "466" "-5" "466" "-5" "c.466-5G>A" "r.spl?" "p.?" "" "0000652486" "00020423" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000673835" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258*)" "" "0000673836" "00020423" "70" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Ser186Gly)" "" "0000721967" "00020423" "30" "177" "0" "177" "0" "c.177C>T" "r.(?)" "p.(Leu59=)" "" "0000878533" "00020423" "70" "745" "-1" "745" "-1" "c.745-1G>A" "r.spl" "p.?" "" "0000878539" "00020423" "50" "179" "-15" "179" "-15" "c.179-15G>T" "r.?" "p.?" "" "0000878542" "00020423" "70" "465" "2" "465" "2" "c.465+2T>A" "r.spl?" "p.?" "" "0000878543" "00020423" "70" "179" "-2" "179" "-2" "c.179-2A>C" "r.spl?" "p.?" "" "0000878556" "00020423" "70" "744" "1" "744" "1" "c.744+1G>A" "r.spl?" "p.?" "" "0000954165" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954166" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954167" "00020423" "90" "714" "0" "714" "0" "c.714del" "r.(?)" "p.(Lys238AsnfsTer83)" "" "0000954168" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954169" "00020423" "70" "509" "0" "509" "0" "c.509T>C" "r.(?)" "p.(Leu170Pro)" "" "0000954170" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954171" "00020423" "70" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Ser186Gly)" "" "0000954172" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954173" "00020423" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000954174" "00020423" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000954175" "00020423" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Cys)" "" "0000954176" "00020423" "70" "745" "-1" "745" "-1" "c.745-1G>A" "r.spl" "p.?" "" "0000954177" "00020423" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000954178" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954179" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954180" "00020423" "50" "179" "-15" "179" "-15" "c.179-15G>T" "r.spl" "p.?" "" "0000954181" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954182" "00020423" "90" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "0000954183" "00020423" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Cys)" "" "0000954184" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954185" "00020423" "90" "" "0" "" "0" "c.-264_(64+1_65-1){0}" "r.0?" "p.0?" "" "0000954186" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954187" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954188" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954189" "00020423" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000954190" "00020423" "90" "838" "0" "838" "0" "c.838del" "r.(?)" "p.(Ala280ProfsTer41)" "" "0000954191" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954192" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954193" "00020423" "70" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Gly79Trp)" "" "0000954194" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954195" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954196" "00020423" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000954197" "00020423" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000954276" "00020423" "70" "719" "0" "719" "0" "c.719del" "r.(?)" "p.(Thr240SerfsTer81)" "" "0000954277" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954278" "00020423" "90" "577" "0" "577" "0" "c.577C>T" "r.(?)" "p.(Arg193Ter)" "" "0000954279" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954280" "00020423" "90" "695" "0" "695" "0" "c.695del" "r.(?)" "p.(Gly232GlufsTer89)" "" "0000954281" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954282" "00020423" "70" "465" "2" "465" "2" "c.465+2T>A" "r.spl" "p.?" "" "0000954283" "00020423" "90" "201" "0" "202" "0" "c.201_202del" "r.(?)" "p.(Tyr68GlnfsTer2)" "" "0000954284" "00020423" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Arg182Cys)" "" "0000954285" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954286" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954287" "00020423" "70" "707" "0" "708" "0" "c.707_708delinsCTT" "r.(?)" "p.(Lys236ThrfsTer47)" "" "0000954288" "00020423" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188Cys)" "" "0000954289" "00020423" "90" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Gln258Ter)" "" "0000954290" "00020423" "90" "201" "0" "202" "0" "c.201_202del" "r.(?)" "p.(Tyr68GlnfsTer2)" "" "0000954291" "00020423" "70" "714" "0" "714" "0" "c.714del" "r.(?)" "p.(Lys238AsnfsTer83)" "" "0000954292" "00020423" "70" "556" "0" "556" "0" "c.556A>G" "r.(?)" "p.(Ser186Gly)" "" "0000954293" "00020423" "70" "179" "-2" "179" "-2" "c.179-2A>C" "r.spl" "p.?" "" "0000954294" "00020423" "70" "713" "0" "714" "0" "c.713_714del" "r.(?)" "p.(Lys238ThrfsTer44)" "" "0000954295" "00020423" "90" "125" "0" "125" "0" "c.125del" "r.(?)" "p.(Gly42AlafsTer67)" "" "0000954296" "00020423" "70" "491" "0" "491" "0" "c.491C>A" "r.(?)" "p.(Thr164Lys)" "" "0000954297" "00020423" "70" "744" "1" "744" "1" "c.744+1G>A" "r.spl" "p.?" "" "0000954298" "00020423" "90" "229" "0" "229" "0" "c.229C>T" "r.(?)" "p.(Gln77Ter)" "" "0000954299" "00020423" "90" "714" "0" "714" "0" "c.714del" "r.(?)" "p.(Lys238AsnfsTer83)" "" "0000954300" "00020423" "70" "465" "2" "465" "2" "c.465+2T>A" "r.spl" "p.?" "" "0000954301" "00020423" "70" "465" "2" "465" "2" "c.465+2T>A" "r.spl" "p.?" "" "0000954302" "00020423" "70" "358" "0" "358" "0" "c.358T>G" "r.(?)" "p.(Phe120Val)" "" "0000954303" "00020423" "70" "358" "0" "358" "0" "c.358T>G" "r.(?)" "p.(Phe120Val)" "" "0000964986" "00020423" "70" "791" "0" "791" "0" "c.791A>G" "r.(?)" "p.(Gln264Arg)" "" "0000978191" "00020423" "50" "184" "0" "184" "0" "c.184C>T" "r.(?)" "p.(Arg62Trp)" "" "0001036946" "00020423" "50" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Val226Ala)" "" "0001036947" "00020423" "50" "652" "0" "652" "0" "c.652G>A" "r.(?)" "p.(Ala218Thr)" "" "0001036948" "00020423" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Thr196Ile)" "" "0001036949" "00020423" "30" "306" "10" "306" "10" "c.306+10G>A" "r.(=)" "p.(=)" "" "0001046161" "00020423" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Val215Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 71 "{{screeningid}}" "{{variantid}}" "0000232587" "0000475090" "0000232587" "0000475091" "0000295797" "0000652486" "0000307249" "0000673835" "0000307249" "0000673836" "0000418703" "0000878533" "0000418704" "0000878539" "0000418705" "0000878542" "0000418706" "0000878543" "0000418719" "0000878556" "0000445955" "0000954165" "0000445955" "0000954276" "0000445956" "0000954166" "0000445957" "0000954167" "0000445957" "0000954277" "0000445958" "0000954168" "0000445958" "0000954278" "0000445959" "0000954169" "0000445959" "0000954279" "0000445960" "0000954170" "0000445960" "0000954280" "0000445961" "0000954171" "0000445961" "0000954281" "0000445962" "0000954172" "0000445962" "0000954282" "0000445963" "0000954173" "0000445963" "0000954283" "0000445964" "0000954174" "0000445964" "0000954284" "0000445965" "0000954175" "0000445965" "0000954285" "0000445966" "0000954176" "0000445966" "0000954286" "0000445967" "0000954177" "0000445967" "0000954287" "0000445968" "0000954178" "0000445968" "0000954288" "0000445969" "0000954179" "0000445970" "0000954180" "0000445970" "0000954289" "0000445971" "0000954181" "0000445971" "0000954290" "0000445972" "0000954182" "0000445973" "0000954183" "0000445973" "0000954291" "0000445974" "0000954184" "0000445974" "0000954292" "0000445975" "0000954185" "0000445975" "0000954293" "0000445976" "0000954186" "0000445976" "0000954294" "0000445977" "0000954187" "0000445977" "0000954295" "0000445978" "0000954188" "0000445978" "0000954296" "0000445979" "0000954189" "0000445979" "0000954297" "0000445980" "0000954190" "0000445980" "0000954298" "0000445981" "0000954191" "0000445981" "0000954299" "0000445982" "0000954192" "0000445983" "0000954193" "0000445984" "0000954194" "0000445984" "0000954300" "0000445985" "0000954195" "0000445985" "0000954301" "0000445986" "0000954196" "0000445986" "0000954302" "0000445987" "0000954197" "0000445987" "0000954303"