### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FAS) # 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}}" "FAS" "Fas (TNF receptor superfamily, member 6)" "10" "q24.1" "unknown" "LRG_58" "UD_132118457794" "" "http://www.LOVD.nl/FAS" "" "1" "11920" "355" "134637" "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/FAS_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-08-14 00:00:00" "00006" "2016-01-22 06:42:30" "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}}" "00001499" "FAS" "transcript variant 1" "001" "NM_000043.4" "" "NP_000034.1" "" "" "" "-346" "2343" "1008" "90750288" "90775542" "00000" "2012-09-13 13:36:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02396" "ALPS" "Autoimmune lymphoproliferative syndrome" "AD" "601859" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FAS" "02396" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00057227" "" "" "" "1" "" "01512" "" "" "M" "yes" "Libya" "" "0" "" "" "" "" "00057229" "" "" "" "1" "" "01512" "" "" "M" "yes" "Tunisia" "" "0" "" "" "white" "" "00290173" "" "" "" "80" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304270" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00057227" "02396" "00057229" "02396" "00290173" "00198" "00304270" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 02396 ## Count = 3 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000044578" "02396" "00057227" "01512" "Familial, autosomal recessive" "" "Lymphadenopathy, hepatosplenomegaly, skin rash" "" "" "" "" "" "" "" "" "" "" "" "0000044579" "02396" "00057229" "01512" "Familial, autosomal recessive" "" "Lymphadenopathy, splenomegaly." "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000057191" "00057227" "1" "01512" "01512" "2016-01-19 10:18:06" "00006" "2016-01-27 06:10:10" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057192" "00057229" "1" "01512" "01512" "2016-01-19 13:34:54" "00006" "2016-01-27 06:16:32" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000291341" "00290173" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305399" "00304270" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000057191" "FAS" "0000057192" "FAS" ## 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 = 151 "{{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}}" "0000012864" "0" "30" "10" "90768965" "90768965" "subst" "0" "00037" "FAS_000001" "g.90768965A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.89009208A>G" "" "likely benign" "" "0000087480" "0" "90" "10" "90770494" "90770494" "subst" "0" "01512" "FAS_000002" "g.90770494A>G" "" "" "" "g.25207A>G" "" "Germline" "yes" "" "0" "" "" "g.89010737A>G" "" "pathogenic" "" "0000087481" "3" "90" "10" "90770542" "90770542" "subst" "0" "01512" "FAS_000003" "g.90770542C>T" "" "" "" "g.25255C>T" "" "Germline" "yes" "" "0" "" "" "g.89010785C>T" "" "pathogenic" "" "0000247900" "0" "10" "10" "90701645" "90701645" "subst" "0.12017" "02325" "ACTA2_000053" "g.90701645A>G" "" "" "" "ACTA2(NM_001141945.2):c.370-19T>C, ACTA2(NM_001141945.3):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941888A>G" "" "benign" "" "0000249878" "0" "10" "10" "90701645" "90701645" "subst" "0.12017" "02329" "ACTA2_000053" "g.90701645A>G" "" "" "" "ACTA2(NM_001141945.2):c.370-19T>C, ACTA2(NM_001141945.3):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941888A>G" "" "benign" "" "0000249979" "0" "30" "10" "90771765" "90771765" "subst" "9.34724E-5" "02329" "FAS_000015" "g.90771765A>G" "" "" "" "FAS(NM_000043.4):c.578A>G (p.K193R), FAS(NM_000043.6):c.578A>G (p.K193R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89012008A>G" "" "likely benign" "" "0000250113" "0" "10" "10" "90767482" "90767482" "subst" "0.0636886" "02329" "FAS_000007" "g.90767482A>G" "" "" "" "FAS(NM_000043.6):c.222A>G (p.T74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89007725A>G" "" "benign" "" "0000250310" "0" "30" "10" "90708646" "90708646" "subst" "0" "02329" "ACTA2_000086" "g.90708646A>G" "" "" "" "ACTA2(NM_001141945.2):c.42T>C (p.N14=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88948889A>G" "" "likely benign" "" "0000250387" "0" "30" "10" "90773115" "90773115" "subst" "8.95926E-5" "02329" "FAS_000018" "g.90773115A>C" "" "" "" "FAS(NM_000043.6):c.667A>C (p.N223H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89013358A>C" "" "likely benign" "" "0000250497" "0" "70" "10" "90697954" "90697954" "subst" "4.06736E-6" "02329" "ACTA2_000026" "g.90697954A>G" "" "" "" "ACTA2(NM_001141945.2):c.854T>C (p.M285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88938197A>G" "" "likely pathogenic" "" "0000251799" "0" "30" "10" "90768701" "90768701" "subst" "0" "02326" "FAS_000010" "g.90768701A>G" "" "" "" "FAS(NM_000043.4):c.390A>G (p.K130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89008944A>G" "" "likely benign" "" "0000251863" "0" "30" "10" "90773114" "90773114" "subst" "8.14511E-6" "02326" "FAS_000017" "g.90773114A>G" "" "" "" "FAS(NM_000043.4):c.666A>G (p.I222M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89013357A>G" "" "likely benign" "" "0000252760" "0" "50" "10" "90773930" "90773930" "subst" "0" "02326" "FAS_000021" "g.90773930A>C" "" "" "" "FAS(NM_000043.4):c.731A>C (p.Q244P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014173A>C" "" "VUS" "" "0000252761" "0" "50" "10" "90774047" "90774047" "subst" "0" "02326" "FAS_000027" "g.90774047A>G" "" "" "" "FAS(NM_000043.4):c.848A>G (p.Q283R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014290A>G" "" "VUS" "" "0000252807" "0" "50" "10" "90770294" "90770294" "subst" "0" "02326" "FAS_000012" "g.90770294A>C" "" "" "" "FAS(NM_000043.4):c.444-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89010537A>C" "" "VUS" "" "0000252808" "0" "50" "10" "90773127" "90773127" "subst" "0" "02326" "FAS_000019" "g.90773127A>C" "" "" "" "FAS(NM_000043.4):c.676+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89013370A>C" "" "VUS" "" "0000253102" "0" "10" "10" "90701645" "90701645" "subst" "0.12017" "01943" "ACTA2_000053" "g.90701645A>G" "" "" "" "ACTA2(NM_001141945.2):c.370-19T>C, ACTA2(NM_001141945.3):c.370-19T>C, ACTA2(NM_001613.2):c.370-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941888A>G" "" "benign" "" "0000253686" "0" "10" "10" "90701557" "90701557" "subst" "4.1174E-6" "01943" "ACTA2_000052" "g.90701557A>G" "" "" "" "ACTA2(NM_001613.2):c.439T>C (p.S147P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941800A>G" "" "benign" "" "0000254070" "0" "30" "10" "90771765" "90771765" "subst" "9.34724E-5" "01943" "FAS_000015" "g.90771765A>G" "" "" "" "FAS(NM_000043.4):c.578A>G (p.K193R), FAS(NM_000043.6):c.578A>G (p.K193R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89012008A>G" "" "likely benign" "" "0000254233" "0" "30" "10" "90701131" "90701131" "subst" "0" "01943" "ACTA2_000042" "g.90701131A>G" "" "" "" "ACTA2(NM_001613.2):c.471T>C (p.S157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941374A>G" "" "likely benign" "" "0000259860" "0" "10" "10" "90694793" "90694793" "subst" "0" "02329" "ACTA2-AS1_000009" "g.90694793G>T" "" "" "" "ACTA2(NM_001141945.2):c.*187C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88935036G>T" "" "benign" "" "0000259868" "0" "90" "10" "90695096" "90695097" "del" "0" "02329" "ACTA2_000008" "g.90695096_90695097del" "" "" "" "ACTA2(NM_001141945.2):c.1019_1020delCT (p.S340Cfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88935339_88935340del" "" "pathogenic" "" "0000259870" "0" "50" "10" "90695045" "90695045" "subst" "0" "02329" "ACTA2_000005" "g.90695045T>C" "" "" "" "ACTA2(NM_001141945.2):c.1069A>G (p.M357V), ACTA2(NM_001613.2):c.1069A>G (p.(Met357Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88935288T>C" "" "VUS" "" "0000259874" "0" "90" "10" "90708573" "90708573" "subst" "0" "02329" "ACTA2_000085" "g.90708573G>A" "" "" "" "ACTA2(NM_001141945.2):c.115C>T (p.R39C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88948816G>A" "" "pathogenic" "" "0000259875" "0" "90" "10" "90708572" "90708572" "subst" "0" "02329" "ACTA2_000084" "g.90708572C>T" "" "" "" "ACTA2(NM_001141945.2):c.116G>A (p.R39H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88948815C>T" "" "pathogenic" "" "0000259877" "0" "50" "10" "90708675" "90708675" "subst" "0" "02329" "ACTA2_000087" "g.90708675C>G" "" "" "" "ACTA2(NM_001141945.2):c.13G>C (p.E5Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88948918C>G" "" "VUS" "" "0000259878" "0" "30" "10" "90707099" "90707099" "subst" "3.65782E-5" "02329" "ACTA2_000075" "g.90707099G>A" "" "" "" "ACTA2(NM_001141945.2):c.174C>T (p.D58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88947342G>A" "" "likely benign" "" "0000259887" "0" "50" "10" "90703627" "90703627" "subst" "2.03447E-5" "02329" "ACTA2_000065" "g.90703627G>C" "" "" "" "ACTA2(NM_001141945.2):c.296C>G (p.A99G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88943870G>C" "" "VUS" "" "0000259888" "0" "10" "10" "90703446" "90703446" "subst" "0" "02329" "ACTA2_000061" "g.90703446G>A" "" "" "" "ACTA2(NM_001141945.2):c.369+108C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88943689G>A" "" "benign" "" "0000259890" "0" "10" "10" "90703524" "90703524" "subst" "0.0388826" "02329" "ACTA2_000064" "g.90703524C>G" "" "" "" "ACTA2(NM_001141945.2):c.369+30G>C, ACTA2(NM_001613.2):c.369+30G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88943767C>G" "" "benign" "" "0000259893" "0" "10" "10" "90703465" "90703465" "subst" "0" "02329" "ACTA2_000063" "g.90703465C>T" "" "" "" "ACTA2(NM_001141945.2):c.369+89G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88943708C>T" "" "benign" "" "0000259899" "0" "10" "10" "90701477" "90701477" "subst" "0" "02329" "ACTA2_000050" "g.90701477C>T" "" "" "" "ACTA2(NM_001141945.2):c.454+65G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941720C>T" "" "benign" "" "0000259901" "0" "10" "10" "90701164" "90701164" "subst" "0.014195" "02329" "ACTA2_000044" "g.90701164C>T" "" "" "" "ACTA2(NM_001141945.2):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941407C>T" "" "benign" "" "0000259902" "0" "10" "10" "90701221" "90701221" "subst" "0" "02329" "ACTA2_000045" "g.90701221G>A" "" "" "" "ACTA2(NM_001141945.2):c.455-74C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941464G>A" "" "benign" "" "0000259904" "0" "30" "10" "90701137" "90701137" "subst" "0" "02329" "ACTA2_000043" "g.90701137C>T" "" "" "" "ACTA2(NM_001141945.2):c.465G>A (p.L155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941380C>T" "" "likely benign" "" "0000259905" "0" "70" "10" "90701079" "90701079" "subst" "0" "02329" "ACTA2_000039" "g.90701079G>C" "" "" "" "ACTA2(NM_001141945.2):c.523C>G (p.H175D), ACTA2(NM_001613.2):c.523C>G (p.H175D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941322G>C" "" "likely pathogenic" "" "0000259906" "0" "90" "10" "90701066" "90701066" "subst" "0" "02329" "ACTA2_000037" "g.90701066C>T" "" "" "" "ACTA2(NM_001141945.2):c.536G>A (p.R179H), ACTA2(NM_001613.2):c.536G>A (p.R179H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941309C>T" "" "pathogenic" "" "0000259908" "0" "50" "10" "90700995" "90700995" "subst" "4.0701E-6" "02329" "ACTA2_000033" "g.90700995C>G" "" "" "" "ACTA2(NM_001141945.2):c.607G>C (p.V203L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941238C>G" "" "VUS" "" "0000259910" "0" "50" "10" "90699449" "90699449" "subst" "1.63043E-5" "02329" "ACTA2_000030" "g.90699449C>T" "" "" "" "ACTA2(NM_001141945.2):c.623G>A (p.R208H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88939692C>T" "" "VUS" "" "0000260498" "0" "70" "10" "90701049" "90701049" "subst" "0" "02326" "ACTA2_000036" "g.90701049G>A" "" "" "" "ACTA2(NM_001141945.1):c.553C>T (p.(Arg185Ter)), ACTA2(NM_001613.2):c.553C>T (p.R185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941292G>A" "" "likely pathogenic" "" "0000261804" "0" "30" "10" "90695091" "90695091" "subst" "4.06567E-6" "01943" "ACTA2_000007" "g.90695091G>A" "" "" "" "ACTA2(NM_001141945.1):c.1023C>T (p.V341=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88935334G>A" "" "likely benign" "" "0000261805" "0" "10" "10" "90707168" "90707168" "subst" "0" "01943" "ACTA2_000078" "g.90707168G>A" "" "" "" "ACTA2(NM_001613.2):c.130-25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88947411G>A" "" "benign" "" "0000261806" "0" "50" "10" "90707140" "90707140" "subst" "0" "01943" "ACTA2_000077" "g.90707140C>T" "" "" "" "ACTA2(NM_001613.2):c.133G>A (p.V45M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88947383C>T" "" "VUS" "" "0000261807" "0" "10" "10" "90703803" "90703803" "del" "0" "01943" "ACTA2_000067" "g.90703803del" "" "" "" "ACTA2(NM_001613.2):c.259-136delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88944046del" "" "benign" "" "0000261808" "0" "10" "10" "90703524" "90703524" "subst" "0.0388826" "01943" "ACTA2_000064" "g.90703524C>G" "" "" "" "ACTA2(NM_001141945.2):c.369+30G>C, ACTA2(NM_001613.2):c.369+30G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88943767C>G" "" "benign" "" "0000261809" "0" "70" "10" "90701551" "90701551" "subst" "0" "01943" "ACTA2_000051" "g.90701551G>A" "" "" "" "ACTA2(NM_001141945.2):c.445C>T (p.R149C), ACTA2(NM_001613.2):c.445C>T (p.R149C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941794G>A" "" "likely pathogenic" "" "0000261810" "0" "10" "10" "90701164" "90701164" "subst" "0.014195" "01943" "ACTA2_000044" "g.90701164C>T" "" "" "" "ACTA2(NM_001141945.2):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941407C>T" "" "benign" "" "0000261812" "0" "50" "10" "90701079" "90701079" "subst" "0" "01943" "ACTA2_000039" "g.90701079G>C" "" "" "" "ACTA2(NM_001141945.2):c.523C>G (p.H175D), ACTA2(NM_001613.2):c.523C>G (p.H175D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941322G>C" "" "VUS" "" "0000261813" "0" "90" "10" "90701067" "90701067" "subst" "0" "01943" "ACTA2_000038" "g.90701067G>A" "" "" "" "ACTA2(NM_001613.2):c.535C>T (p.R179C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941310G>A" "" "pathogenic" "" "0000261814" "0" "90" "10" "90701066" "90701066" "subst" "0" "01943" "ACTA2_000037" "g.90701066C>T" "" "" "" "ACTA2(NM_001141945.2):c.536G>A (p.R179H), ACTA2(NM_001613.2):c.536G>A (p.R179H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88941309C>T" "" "pathogenic" "" "0000261815" "0" "90" "10" "90699264" "90699264" "subst" "4.07229E-6" "01943" "ACTA2_000029" "g.90699264C>T" "" "" "" "ACTA2(NM_001613.2):c.808G>A (p.G270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88939507C>T" "" "pathogenic" "" "0000261816" "0" "30" "10" "90695127" "90695127" "subst" "0" "01943" "ACTA2_000009" "g.90695127T>G" "" "" "" "ACTA2(NM_001141945.1):c.991-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88935370T>G" "" "likely benign" "" "0000280729" "0" "10" "10" "90771829" "90771829" "subst" "0.765137" "02325" "FAS_000016" "g.90771829T>C" "" "" "" "FAS(NM_000043.6):c.642T>C (p.T214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89012072T>C" "" "benign" "" "0000283004" "0" "10" "10" "90762938" "90762938" "subst" "0.00662491" "02329" "FAS_000006" "g.90762938G>A" "" "" "" "FAS(NM_000043.6):c.183G>A (p.K61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89003181G>A" "" "benign" "" "0000283005" "0" "10" "10" "90762801" "90762801" "subst" "0.00960859" "02329" "FAS_000004" "g.90762801G>A" "" "" "" "FAS(NM_000043.4):c.46G>A (p.A16T), FAS(NM_000043.6):c.46G>A (p.A16T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89003044G>A" "" "benign" "" "0000283006" "0" "10" "10" "90770373" "90770373" "subst" "0.0101165" "02329" "FAS_000014" "g.90770373C>T" "" "" "" "FAS(NM_000043.4):c.505+16C>T, FAS(NM_000043.6):c.505+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89010616C>T" "" "benign" "" "0000283825" "0" "90" "10" "90762894" "90762894" "subst" "0" "02326" "FAS_000005" "g.90762894C>T" "" "" "" "FAS(NM_000043.4):c.139C>T (p.Q47*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89003137C>T" "" "pathogenic" "" "0000283826" "0" "30" "10" "90768680" "90768680" "subst" "0.00622188" "02326" "FAS_000009" "g.90768680G>A" "" "" "" "FAS(NM_000043.4):c.369G>A (p.Q123=), FAS(NM_152872.3):c.369G>A (p.Q123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89008923G>A" "" "likely benign" "" "0000283827" "0" "90" "10" "90770295" "90770295" "subst" "0" "02326" "FAS_000013" "g.90770295G>T" "" "" "" "FAS(NM_000043.4):c.444-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89010538G>T" "" "pathogenic" "" "0000283828" "0" "30" "10" "90770290" "90770290" "subst" "0" "02326" "FAS_000011" "g.90770290T>C" "" "" "" "FAS(NM_000043.4):c.444-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89010533T>C" "" "likely benign" "" "0000283829" "0" "30" "10" "90762801" "90762801" "subst" "0.00960859" "02326" "FAS_000004" "g.90762801G>A" "" "" "" "FAS(NM_000043.4):c.46G>A (p.A16T), FAS(NM_000043.6):c.46G>A (p.A16T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89003044G>A" "" "likely benign" "" "0000283830" "0" "10" "10" "90770373" "90770373" "subst" "0.0101165" "02326" "FAS_000014" "g.90770373C>T" "" "" "" "FAS(NM_000043.4):c.505+16C>T, FAS(NM_000043.6):c.505+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89010616C>T" "" "benign" "" "0000283831" "0" "90" "10" "90773921" "90773921" "subst" "6.91197E-5" "02326" "FAS_000020" "g.90773921C>A" "" "" "" "FAS(NM_000043.4):c.722C>A (p.T241K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014164C>A" "" "pathogenic" "" "0000283832" "0" "50" "10" "90773944" "90773944" "subst" "0" "02326" "FAS_000022" "g.90773944G>T" "" "" "" "FAS(NM_000043.4):c.745G>T (p.V249F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014187G>T" "" "VUS" "" "0000283833" "0" "90" "10" "90773948" "90773948" "subst" "0" "02326" "FAS_000023" "g.90773948G>A" "" "" "" "FAS(NM_000043.4):c.749G>A (p.R250Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014191G>A" "" "pathogenic" "" "0000283834" "0" "90" "10" "90773975" "90773975" "subst" "0" "02326" "FAS_000024" "g.90773975T>C" "" "" "" "FAS(NM_000043.4):c.776T>C (p.I259T), FAS(NM_000043.6):c.776T>C (p.I259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014218T>C" "" "pathogenic" "" "0000283835" "0" "50" "10" "90773984" "90773984" "subst" "4.06332E-6" "02326" "FAS_000025" "g.90773984T>C" "" "" "" "FAS(NM_000043.4):c.785T>C (p.I262T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014227T>C" "" "VUS" "" "0000283836" "0" "50" "10" "90774008" "90774008" "subst" "0" "02326" "FAS_000026" "g.90774008C>G" "" "" "" "FAS(NM_000043.4):c.809C>G (p.T270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89014251C>G" "" "VUS" "" "0000287107" "0" "10" "10" "90768676" "90768676" "subst" "0.0019941" "01943" "FAS_000008" "g.90768676C>T" "" "" "" "FAS(NM_000043.4):c.365C>T (p.T122I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89008919C>T" "" "benign" "" "0000287108" "0" "30" "10" "90768680" "90768680" "subst" "0.00622188" "01943" "FAS_000009" "g.90768680G>A" "" "" "" "FAS(NM_000043.4):c.369G>A (p.Q123=), FAS(NM_152872.3):c.369G>A (p.Q123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.89008923G>A" "" "likely benign" "" "0000338898" "0" "30" "10" "90750666" "90750666" "subst" "0" "02327" "FAS_000028" "g.90750666G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88990909G>C" "" "likely benign" "" "0000342244" "0" "90" "10" "90699437" "90699437" "subst" "0" "02327" "ACTA2_000097" "g.90699437C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.88939680C>T" "" "pathogenic" "" "0000541464" "0" "70" "10" "90694994" "90694994" "subst" "4.06494E-6" "02329" "FAS_000033" "g.90694994G>A" "" "" "" "ACTA2(NM_001141945.2):c.1120C>T (p.R374C), ACTA2(NM_001613.2):c.1120C>T (p.R374C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88935237G>A" "" "likely pathogenic" "" "0000541465" "0" "30" "10" "90695085" "90695085" "subst" "4.06603E-6" "01943" "FAS_000034" "g.90695085G>A" "" "" "" "ACTA2(NM_001141945.1):c.1029C>T (p.I343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88935328G>A" "" "likely benign" "" "0000541467" "0" "70" "10" "90697973" "90697973" "subst" "0" "02329" "FAS_000036" "g.90697973T>C" "" "" "" "ACTA2(NM_001141945.2):c.835A>G (p.T279A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88938216T>C" "" "likely pathogenic" "" "0000541470" "0" "50" "10" "90699315" "90699315" "subst" "4.06937E-6" "01943" "FAS_000039" "g.90699315C>T" "" "" "" "ACTA2(NM_001613.2):c.757G>A (p.G253R), ACTA2(NM_001613.4):c.757G>A (p.G253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88939558C>T" "" "VUS" "" "0000541471" "0" "70" "10" "90699338" "90699338" "subst" "0" "02329" "FAS_000040" "g.90699338G>A" "" "" "" "ACTA2(NM_001141945.2):c.734C>T (p.P245L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88939581G>A" "" "likely pathogenic" "" "0000541472" "0" "30" "10" "90699343" "90699343" "subst" "2.03459E-5" "02329" "FAS_000041" "g.90699343C>T" "" "" "" "ACTA2(NM_001141945.2):c.729G>A (p.E243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88939586C>T" "" "likely benign" "" "0000541474" "0" "10" "10" "90700795" "90700797" "del" "0" "02329" "FAS_000043" "g.90700795_90700797del" "" "" "" "ACTA2(NM_001141945.2):c.616+192_616+194delGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941038_88941040del" "" "benign" "" "0000541475" "0" "70" "10" "90701076" "90701076" "subst" "4.06792E-6" "02329" "FAS_000044" "g.90701076C>T" "" "" "" "ACTA2(NM_001141945.2):c.526G>A (p.A176T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941319C>T" "" "likely pathogenic" "" "0000541476" "0" "50" "10" "90701117" "90701117" "subst" "0" "01943" "FAS_000045" "g.90701117G>T" "" "" "" "ACTA2(NM_001613.2):c.485C>A (p.T162N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941360G>T" "" "VUS" "" "0000541479" "0" "90" "10" "90701551" "90701551" "subst" "0" "02329" "ACTA2_000051" "g.90701551G>A" "" "" "" "ACTA2(NM_001141945.2):c.445C>T (p.R149C), ACTA2(NM_001613.2):c.445C>T (p.R149C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941794G>A" "" "pathogenic" "" "0000541480" "0" "70" "10" "90701577" "90701577" "subst" "0" "02329" "FAS_000048" "g.90701577G>A" "" "" "" "ACTA2(NM_001141945.2):c.419C>T (p.A140V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941820G>A" "" "likely pathogenic" "" "0000541481" "0" "30" "10" "90701579" "90701579" "subst" "0.00064743" "02329" "FAS_000049" "g.90701579C>T" "" "" "" "ACTA2(NM_001141945.2):c.417G>A (p.Q139=), ACTA2(NM_001613.2):c.417G>A (p.Q139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941822C>T" "" "likely benign" "" "0000541482" "0" "50" "10" "90701587" "90701587" "subst" "0" "02326" "FAS_000050" "g.90701587C>T" "" "" "" "ACTA2(NM_001613.2):c.409G>A (p.A137T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941830C>T" "" "VUS" "" "0000541486" "0" "50" "10" "90703600" "90703600" "subst" "4.06752E-6" "02329" "FAS_000054" "g.90703600G>A" "" "" "" "ACTA2(NM_001141945.2):c.323C>T (p.T108M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88943843G>A" "" "VUS" "" "0000541490" "0" "70" "10" "90707094" "90707094" "subst" "0" "02329" "FAS_000058" "g.90707094G>T" "" "" "" "ACTA2(NM_001141945.2):c.179C>A (p.A60E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88947337G>T" "" "likely pathogenic" "" "0000541491" "0" "50" "10" "90708581" "90708581" "subst" "8.13517E-6" "02329" "FAS_000059" "g.90708581A>G" "" "" "" "ACTA2(NM_001141945.2):c.107T>C (p.I36T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88948824A>G" "" "VUS" "" "0000541493" "0" "10" "10" "90762858" "90762858" "subst" "0.00428069" "01943" "FAS_000061" "g.90762858T>C" "" "" "" "FAS(NM_152872.3):c.103T>C (p.L35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89003101T>C" "" "benign" "" "0000541494" "0" "50" "10" "90767457" "90767457" "subst" "0" "02326" "FAS_000062" "g.90767457G>A" "" "" "" "FAS(NM_000043.4):c.197G>A (p.G66D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89007700G>A" "" "VUS" "" "0000541495" "0" "30" "10" "90767567" "90767567" "subst" "0" "01943" "FAS_000063" "g.90767567A>C" "" "" "" "FAS(NM_152872.3):c.307A>C (p.R103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89007810A>C" "" "likely benign" "" "0000541496" "0" "30" "10" "90770554" "90770554" "subst" "0.000694744" "02326" "FAS_000064" "g.90770554A>G" "" "" "" "FAS(NM_000043.6):c.550A>G (p.I184V), FAS(NM_152872.4):c.550A>G (p.I184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89010797A>G" "" "likely benign" "" "0000541497" "0" "30" "10" "90771767" "90771767" "subst" "0.00155658" "01943" "FAS_000065" "g.90771767G>A" "" "" "" "FAS(NM_000043.4):c.580G>A (p.E194K, p.(Glu194Lys)), FAS(NM_000043.6):c.580G>A (p.E194K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89012010G>A" "" "likely benign" "" "0000541498" "0" "30" "10" "90771767" "90771767" "subst" "0.00155658" "02329" "FAS_000065" "g.90771767G>A" "" "" "" "FAS(NM_000043.4):c.580G>A (p.E194K, p.(Glu194Lys)), FAS(NM_000043.6):c.580G>A (p.E194K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89012010G>A" "" "likely benign" "" "0000541499" "0" "90" "10" "90773948" "90773948" "subst" "0" "02327" "FAS_000023" "g.90773948G>A" "" "" "" "FAS(NM_000043.4):c.749G>A (p.R250Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89014191G>A" "" "pathogenic" "" "0000612770" "0" "30" "10" "90698003" "90698003" "subst" "8.13716E-6" "02327" "FAS_000066" "g.90698003G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88938246G>C" "" "likely benign" "" "0000612771" "0" "70" "10" "90701015" "90701015" "subst" "0" "02327" "FAS_000067" "g.90701015G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941258G>T" "" "likely pathogenic" "" "0000612772" "0" "50" "10" "90701049" "90701049" "subst" "0" "01804" "ACTA2_000036" "g.90701049G>A" "" "" "" "ACTA2(NM_001141945.1):c.553C>T (p.(Arg185Ter)), ACTA2(NM_001613.2):c.553C>T (p.R185*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941292G>A" "" "VUS" "" "0000612773" "0" "10" "10" "90701164" "90701164" "subst" "0.014195" "02327" "ACTA2_000044" "g.90701164C>T" "" "" "" "ACTA2(NM_001141945.2):c.455-17G>A, ACTA2(NM_001613.2):c.455-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88941407C>T" "" "benign" "" "0000612774" "0" "90" "10" "90708573" "90708573" "subst" "0" "02327" "ACTA2_000085" "g.90708573G>A" "" "" "" "ACTA2(NM_001141945.2):c.115C>T (p.R39C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88948816G>A" "" "pathogenic" "" "0000612775" "0" "50" "10" "90708668" "90708668" "subst" "0" "02327" "FAS_000069" "g.90708668C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88948911C>T" "" "VUS" "" "0000612776" "0" "30" "10" "90768641" "90768641" "subst" "0" "01943" "FAS_000070" "g.90768641T>C" "" "" "" "FAS(NM_152872.3):c.335-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89008884T>C" "" "likely benign" "" "0000612777" "0" "90" "10" "90773948" "90773948" "subst" "0" "02327" "FAS_000071" "g.90773948G>C" "" "" "" "FAS(NM_152871.4):c.686G>C (p.R229P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89014191G>C" "" "pathogenic" "" "0000622453" "0" "50" "10" "90707098" "90707098" "subst" "0" "02326" "FAS_000068" "g.90707098C>T" "" "" "" "ACTA2(NM_001613.2):c.175G>A (p.E59K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.88947341C>T" "" "VUS" "" "0000648030" "1" "30" "10" "90750600" "90750600" "subst" "0.0145708" "03575" "FAS_000072" "g.90750600A>G" "80/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "80 heterozygous; {DB:CLININrs5030766}" "Germline" "" "rs5030766" "0" "" "" "g.88990843A>G" "" "likely benign" "" "0000656598" "0" "90" "10" "90773948" "90773948" "subst" "0" "02326" "FAS_000071" "g.90773948G>C" "" "" "" "FAS(NM_152871.4):c.686G>C (p.R229P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89014191G>C" "" "pathogenic" "" "0000656599" "0" "90" "10" "90774167" "90774186" "dup" "0" "02327" "FAS_000073" "g.90774167_90774186dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.89014410_89014429dup" "" "pathogenic" "" "0000669087" "3" "30" "10" "90750600" "90750600" "subst" "0.0145708" "03575" "FAS_000072" "g.90750600A>G" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs5030766}" "Germline" "" "rs5030766" "0" "" "" "g.88990843A>G" "" "likely benign" "" "0000678954" "0" "50" "10" "90697953" "90697953" "subst" "0" "02326" "FAS_000074" "g.90697953C>G" "" "" "" "ACTA2(NM_001613.2):c.855G>C (p.M285I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678955" "0" "30" "10" "90701152" "90701152" "subst" "0" "02326" "FAS_000075" "g.90701152G>A" "" "" "" "ACTA2(NM_001613.2):c.455-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678956" "0" "30" "10" "90770371" "90770371" "subst" "8.53721E-5" "02326" "FAS_000076" "g.90770371T>G" "" "" "" "FAS(NM_152872.4):c.505+14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723009" "0" "90" "10" "90703570" "90703570" "subst" "0" "01943" "FAS_000077" "g.90703570C>T" "" "" "" "ACTA2(NM_001141945.1):c.353G>A (p.R118Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804620" "0" "50" "10" "90694994" "90694994" "subst" "4.06494E-6" "02326" "FAS_000033" "g.90694994G>A" "" "" "" "ACTA2(NM_001141945.2):c.1120C>T (p.R374C), ACTA2(NM_001613.2):c.1120C>T (p.R374C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804621" "0" "30" "10" "90771767" "90771767" "subst" "0.00155658" "02326" "FAS_000065" "g.90771767G>A" "" "" "" "FAS(NM_000043.4):c.580G>A (p.E194K, p.(Glu194Lys)), FAS(NM_000043.6):c.580G>A (p.E194K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852624" "0" "90" "10" "90697998" "90697998" "subst" "0" "02329" "FAS_000078" "g.90697998C>A" "" "" "" "ACTA2(NM_001141945.2):c.810G>T (p.G270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000852625" "0" "10" "10" "90762896" "90762896" "subst" "0.00495906" "02329" "FAS_000079" "g.90762896G>A" "" "" "" "FAS(NM_000043.6):c.141G>A (p.Q47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889308" "0" "70" "10" "90695110" "90695110" "subst" "0" "02329" "FAS_000080" "g.90695110G>C" "" "" "" "ACTA2(NM_001141945.2):c.1004C>G (p.P335R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889309" "0" "50" "10" "90701011" "90701011" "subst" "0" "02326" "FAS_000081" "g.90701011C>G" "" "" "" "ACTA2(NM_001613.2):c.591G>C (p.E197D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889310" "0" "90" "10" "90701048" "90701048" "subst" "0" "02329" "FAS_000082" "g.90701048C>T" "" "" "" "ACTA2(NM_001141945.2):c.554G>A (p.R185Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889311" "0" "30" "10" "90707108" "90707108" "subst" "4.06408E-5" "02329" "FAS_000083" "g.90707108G>A" "" "" "" "ACTA2(NM_001141945.2):c.165C>T (p.Y55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889312" "0" "30" "10" "90767511" "90767511" "subst" "2.03156E-5" "02326" "FAS_000084" "g.90767511C>T" "" "" "" "FAS(NM_000043.4):c.251C>T (p.P84L), FAS(NM_000043.6):c.251C>T (p.(Pro84Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913363" "0" "70" "10" "90699345" "90699345" "subst" "0" "02329" "FAS_000085" "g.90699345C>T" "" "" "" "ACTA2(NM_001141945.2):c.727G>A (p.E243K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913364" "0" "50" "10" "90701615" "90701615" "subst" "0" "02329" "FAS_000086" "g.90701615C>G" "" "" "" "ACTA2(NM_001141945.2):c.381G>C (p.E127D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913365" "0" "70" "10" "90768666" "90768666" "subst" "0" "02327" "FAS_000087" "g.90768666T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913366" "0" "30" "10" "90770554" "90770554" "subst" "0.000694744" "02329" "FAS_000064" "g.90770554A>G" "" "" "" "FAS(NM_000043.6):c.550A>G (p.I184V), FAS(NM_152872.4):c.550A>G (p.I184V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913367" "0" "30" "10" "90771765" "90771765" "subst" "9.34724E-5" "02326" "FAS_000015" "g.90771765A>G" "" "" "" "FAS(NM_000043.4):c.578A>G (p.K193R), FAS(NM_000043.6):c.578A>G (p.K193R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913368" "0" "90" "10" "90773975" "90773975" "subst" "0" "02325" "FAS_000024" "g.90773975T>C" "" "" "" "FAS(NM_000043.4):c.776T>C (p.I259T), FAS(NM_000043.6):c.776T>C (p.I259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913369" "0" "70" "10" "90774046" "90774046" "subst" "0" "02327" "FAS_000088" "g.90774046C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000929722" "0" "50" "10" "90697942" "90697942" "subst" "0" "02329" "FAS_000089" "g.90697942A>G" "" "" "" "ACTA2(NM_001141945.2):c.866T>C (p.I289T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929723" "0" "90" "10" "90699300" "90699300" "subst" "0" "02329" "FAS_000090" "g.90699300G>A" "" "" "" "ACTA2(NM_001141945.2):c.772C>T (p.R258C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929724" "0" "50" "10" "90708563" "90708563" "subst" "0" "02329" "FAS_000091" "g.90708563T>C" "" "" "" "ACTA2(NM_001141945.2):c.125A>G (p.H42R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949468" "0" "30" "10" "90701579" "90701579" "subst" "0.00064743" "02326" "FAS_000049" "g.90701579C>T" "" "" "" "ACTA2(NM_001141945.2):c.417G>A (p.Q139=), ACTA2(NM_001613.2):c.417G>A (p.Q139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949469" "0" "30" "10" "90706741" "90706741" "subst" "0" "02329" "FAS_000092" "g.90706741A>C" "" "" "" "ACTA2(NM_001141945.2):c.258+274T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965932" "0" "30" "10" "90698160" "90698160" "subst" "0" "02329" "FAS_000093" "g.90698160A>C" "" "" "" "ACTA2(NM_001141945.2):c.809-161T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965933" "0" "30" "10" "90707010" "90707010" "subst" "8.12962E-6" "02329" "FAS_000094" "g.90707010C>A" "" "" "" "ACTA2(NM_001141945.2):c.258+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965934" "0" "10" "10" "90768676" "90768676" "subst" "0.0019941" "02326" "FAS_000008" "g.90768676C>T" "" "" "" "FAS(NM_000043.4):c.365C>T (p.T122I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000979230" "0" "50" "10" "90695104" "90695104" "subst" "0" "02326" "FAS_000095" "g.90695104C>T" "" "" "" "ACTA2(NM_001613.2):c.1010G>A (p.R337H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979231" "0" "30" "10" "90699271" "90699271" "subst" "0" "02329" "FAS_000096" "g.90699271G>A" "" "" "" "ACTA2(NM_001141945.2):c.801C>T (p.S267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979232" "0" "50" "10" "90701595" "90701595" "subst" "5.73836E-5" "02329" "FAS_000097" "g.90701595A>G" "" "" "" "ACTA2(NM_001141945.2):c.401T>C (p.M134T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979233" "0" "50" "10" "90708671" "90708671" "subst" "0" "01804" "FAS_000098" "g.90708671T>C" "" "" "" "ACTA2(NM_001613.4):c.17A>G (p.(Asp6Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998605" "0" "50" "10" "90695045" "90695045" "subst" "0" "01804" "ACTA2_000005" "g.90695045T>C" "" "" "" "ACTA2(NM_001141945.2):c.1069A>G (p.M357V), ACTA2(NM_001613.2):c.1069A>G (p.(Met357Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998606" "0" "50" "10" "90695095" "90695095" "subst" "0" "01804" "FAS_000099" "g.90695095G>C" "" "" "" "ACTA2(NM_001613.2):c.1019C>G (p.(Ser340Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998607" "0" "30" "10" "90768741" "90768741" "subst" "8.12453E-6" "01804" "FAS_000100" "g.90768741G>T" "" "" "" "FAS(NM_152871.2):c.430G>T (p.(Asp144Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998608" "0" "50" "10" "90771767" "90771767" "subst" "0.00155658" "01804" "FAS_000065" "g.90771767G>A" "" "" "" "FAS(NM_000043.4):c.580G>A (p.E194K, p.(Glu194Lys)), FAS(NM_000043.6):c.580G>A (p.E194K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025797" "0" "70" "10" "90697902" "90697902" "del" "0" "02327" "FAS_000101" "g.90697902del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038090" "0" "50" "10" "90697838" "90697838" "subst" "0" "01804" "FAS_000102" "g.90697838G>A" "" "" "" "ACTA2(NM_001613.4):c.970C>T (p.(Pro324Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038091" "0" "50" "10" "90697867" "90697867" "subst" "0" "01804" "FAS_000103" "g.90697867C>T" "" "" "" "ACTA2(NM_001613.4):c.941G>A (p.(Arg314Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038092" "0" "30" "10" "90699258" "90699258" "subst" "0" "01804" "FAS_000104" "g.90699258G>A" "" "" "" "ACTA2(NM_001613.4):c.808+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038093" "0" "50" "10" "90699315" "90699315" "subst" "4.06937E-6" "02325" "FAS_000039" "g.90699315C>T" "" "" "" "ACTA2(NM_001613.2):c.757G>A (p.G253R), ACTA2(NM_001613.4):c.757G>A (p.G253R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038094" "0" "50" "10" "90767511" "90767511" "subst" "2.03156E-5" "01804" "FAS_000084" "g.90767511C>T" "" "" "" "FAS(NM_000043.4):c.251C>T (p.P84L), FAS(NM_000043.6):c.251C>T (p.(Pro84Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038095" "0" "50" "10" "90768702" "90768702" "subst" "1.21839E-5" "01804" "FAS_000105" "g.90768702C>A" "" "" "" "FAS(NM_000043.6):c.391C>A (p.(Pro131Thr))" "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 FAS ## Count = 151 "{{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}}" "0000012864" "00001499" "30" "443" "211" "443" "211" "c.443+211A>G" "r.(?)" "p.(=)" "4i" "0000087480" "00001499" "90" "506" "-16" "506" "-16" "c.506-16A>G" "r.506_568del" "p.Gly169_Trp189del" "5i" "0000087481" "00001499" "90" "538" "0" "538" "0" "c.538C>T" "r.506_568del" "p.Gly169_Trp189del" "6" "0000247900" "00001499" "10" "-48989" "0" "-48989" "0" "c.-48989A>G" "r.(?)" "p.(=)" "" "0000249878" "00001499" "10" "-48989" "0" "-48989" "0" "c.-48989A>G" "r.(?)" "p.(=)" "" "0000249979" "00001499" "30" "578" "0" "578" "0" "c.578A>G" "r.(?)" "p.(Lys193Arg)" "" "0000250113" "00001499" "10" "222" "0" "222" "0" "c.222A>G" "r.(?)" "p.(Thr74=)" "" "0000250310" "00001499" "30" "-41988" "0" "-41988" "0" "c.-41988A>G" "r.(?)" "p.(=)" "" "0000250387" "00001499" "30" "667" "0" "667" "0" "c.667A>C" "r.(?)" "p.(Asn223His)" "" "0000250497" "00001499" "70" "-52680" "0" "-52680" "0" "c.-52680A>G" "r.(?)" "p.(=)" "" "0000251799" "00001499" "30" "390" "0" "390" "0" "c.390A>G" "r.(?)" "p.(Lys130=)" "" "0000251863" "00001499" "30" "666" "0" "666" "0" "c.666A>G" "r.(?)" "p.(Ile222Met)" "" "0000252760" "00001499" "50" "731" "0" "731" "0" "c.731A>C" "r.(?)" "p.(Gln244Pro)" "" "0000252761" "00001499" "50" "848" "0" "848" "0" "c.848A>G" "r.(?)" "p.(Gln283Arg)" "" "0000252807" "00001499" "50" "444" "-2" "444" "-2" "c.444-2A>C" "r.spl?" "p.?" "" "0000252808" "00001499" "50" "676" "3" "676" "3" "c.676+3A>C" "r.spl?" "p.?" "" "0000253102" "00001499" "10" "-48989" "0" "-48989" "0" "c.-48989A>G" "r.(?)" "p.(=)" "" "0000253686" "00001499" "10" "-49077" "0" "-49077" "0" "c.-49077A>G" "r.(?)" "p.(=)" "" "0000254070" "00001499" "30" "578" "0" "578" "0" "c.578A>G" "r.(?)" "p.(Lys193Arg)" "" "0000254233" "00001499" "30" "-49503" "0" "-49503" "0" "c.-49503A>G" "r.(?)" "p.(=)" "" "0000259860" "00001499" "10" "-55841" "0" "-55841" "0" "c.-55841G>T" "r.(?)" "p.(=)" "" "0000259868" "00001499" "90" "-55538" "0" "-55537" "0" "c.-55538_-55537del" "r.(?)" "p.(=)" "" "0000259870" "00001499" "50" "-55589" "0" "-55589" "0" "c.-55589T>C" "r.(?)" "p.(=)" "" "0000259874" "00001499" "90" "-42061" "0" "-42061" "0" "c.-42061G>A" "r.(?)" "p.(=)" "" "0000259875" "00001499" "90" "-42062" "0" "-42062" "0" "c.-42062C>T" "r.(?)" "p.(=)" "" "0000259877" "00001499" "50" "-41959" "0" "-41959" "0" "c.-41959C>G" "r.(?)" "p.(=)" "" "0000259878" "00001499" "30" "-43535" "0" "-43535" "0" "c.-43535G>A" "r.(?)" "p.(=)" "" "0000259887" "00001499" "50" "-47007" "0" "-47007" "0" "c.-47007G>C" "r.(?)" "p.(=)" "" "0000259888" "00001499" "10" "-47188" "0" "-47188" "0" "c.-47188G>A" "r.(?)" "p.(=)" "" "0000259890" "00001499" "10" "-47110" "0" "-47110" "0" "c.-47110C>G" "r.(?)" "p.(=)" "" "0000259893" "00001499" "10" "-47169" "0" "-47169" "0" "c.-47169C>T" "r.(?)" "p.(=)" "" "0000259899" "00001499" "10" "-49157" "0" "-49157" "0" "c.-49157C>T" "r.(?)" "p.(=)" "" "0000259901" "00001499" "10" "-49470" "0" "-49470" "0" "c.-49470C>T" "r.(?)" "p.(=)" "" "0000259902" "00001499" "10" "-49413" "0" "-49413" "0" "c.-49413G>A" "r.(?)" "p.(=)" "" "0000259904" "00001499" "30" "-49497" "0" "-49497" "0" "c.-49497C>T" "r.(?)" "p.(=)" "" "0000259905" "00001499" "70" "-49555" "0" "-49555" "0" "c.-49555G>C" "r.(?)" "p.(=)" "" "0000259906" "00001499" "90" "-49568" "0" "-49568" "0" "c.-49568C>T" "r.(?)" "p.(=)" "" "0000259908" "00001499" "50" "-49639" "0" "-49639" "0" "c.-49639C>G" "r.(?)" "p.(=)" "" "0000259910" "00001499" "50" "-51185" "0" "-51185" "0" "c.-51185C>T" "r.(?)" "p.(=)" "" "0000260498" "00001499" "70" "-49585" "0" "-49585" "0" "c.-49585G>A" "r.(?)" "p.(=)" "" "0000261804" "00001499" "30" "-55543" "0" "-55543" "0" "c.-55543G>A" "r.(?)" "p.(=)" "" "0000261805" "00001499" "10" "-43466" "0" "-43466" "0" "c.-43466G>A" "r.(?)" "p.(=)" "" "0000261806" "00001499" "50" "-43494" "0" "-43494" "0" "c.-43494C>T" "r.(?)" "p.(=)" "" "0000261807" "00001499" "10" "-46831" "0" "-46831" "0" "c.-46831del" "r.(?)" "p.(=)" "" "0000261808" "00001499" "10" "-47110" "0" "-47110" "0" "c.-47110C>G" "r.(?)" "p.(=)" "" "0000261809" "00001499" "70" "-49083" "0" "-49083" "0" "c.-49083G>A" "r.(?)" "p.(=)" "" "0000261810" "00001499" "10" "-49470" "0" "-49470" "0" "c.-49470C>T" "r.(?)" "p.(=)" "" "0000261812" "00001499" "50" "-49555" "0" "-49555" "0" "c.-49555G>C" "r.(?)" "p.(=)" "" "0000261813" "00001499" "90" "-49567" "0" "-49567" "0" "c.-49567G>A" "r.(?)" "p.(=)" "" "0000261814" "00001499" "90" "-49568" "0" "-49568" "0" "c.-49568C>T" "r.(?)" "p.(=)" "" "0000261815" "00001499" "90" "-51370" "0" "-51370" "0" "c.-51370C>T" "r.(?)" "p.(=)" "" "0000261816" "00001499" "30" "-55507" "0" "-55507" "0" "c.-55507T>G" "r.(?)" "p.(=)" "" "0000280729" "00001499" "10" "642" "0" "642" "0" "c.642T>C" "r.(?)" "p.(Thr214=)" "" "0000283004" "00001499" "10" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Lys61=)" "" "0000283005" "00001499" "10" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Ala16Thr)" "" "0000283006" "00001499" "10" "505" "16" "505" "16" "c.505+16C>T" "r.(=)" "p.(=)" "" "0000283825" "00001499" "90" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Gln47Ter)" "" "0000283826" "00001499" "30" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Gln123=)" "" "0000283827" "00001499" "90" "444" "-1" "444" "-1" "c.444-1G>T" "r.spl?" "p.?" "" "0000283828" "00001499" "30" "444" "-6" "444" "-6" "c.444-6T>C" "r.(=)" "p.(=)" "" "0000283829" "00001499" "30" "46" "0" "46" "0" "c.46G>A" "r.(?)" "p.(Ala16Thr)" "" "0000283830" "00001499" "10" "505" "16" "505" "16" "c.505+16C>T" "r.(=)" "p.(=)" "" "0000283831" "00001499" "90" "722" "0" "722" "0" "c.722C>A" "r.(?)" "p.(Thr241Lys)" "" "0000283832" "00001499" "50" "745" "0" "745" "0" "c.745G>T" "r.(?)" "p.(Val249Phe)" "" "0000283833" "00001499" "90" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000283834" "00001499" "90" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Ile259Thr)" "" "0000283835" "00001499" "50" "785" "0" "785" "0" "c.785T>C" "r.(?)" "p.(Ile262Thr)" "" "0000283836" "00001499" "50" "809" "0" "809" "0" "c.809C>G" "r.(?)" "p.(Thr270Arg)" "" "0000287107" "00001499" "10" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Thr122Ile)" "" "0000287108" "00001499" "30" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Gln123=)" "" "0000338898" "00001499" "30" "30" "3" "30" "3" "c.30+3G>C" "r.spl?" "p.?" "" "0000342244" "00001499" "90" "-51197" "0" "-51197" "0" "c.-51197C>T" "r.(?)" "p.(=)" "" "0000541464" "00001499" "70" "-55640" "0" "-55640" "0" "c.-55640G>A" "r.(?)" "p.(=)" "" "0000541465" "00001499" "30" "-55549" "0" "-55549" "0" "c.-55549G>A" "r.(?)" "p.(=)" "" "0000541467" "00001499" "70" "-52661" "0" "-52661" "0" "c.-52661T>C" "r.(?)" "p.(=)" "" "0000541470" "00001499" "50" "-51319" "0" "-51319" "0" "c.-51319C>T" "r.(?)" "p.(=)" "" "0000541471" "00001499" "70" "-51296" "0" "-51296" "0" "c.-51296G>A" "r.(?)" "p.(=)" "" "0000541472" "00001499" "30" "-51291" "0" "-51291" "0" "c.-51291C>T" "r.(?)" "p.(=)" "" "0000541474" "00001499" "10" "-49839" "0" "-49837" "0" "c.-49839_-49837del" "r.(?)" "p.(=)" "" "0000541475" "00001499" "70" "-49558" "0" "-49558" "0" "c.-49558C>T" "r.(?)" "p.(=)" "" "0000541476" "00001499" "50" "-49517" "0" "-49517" "0" "c.-49517G>T" "r.(?)" "p.(=)" "" "0000541479" "00001499" "90" "-49083" "0" "-49083" "0" "c.-49083G>A" "r.(?)" "p.(=)" "" "0000541480" "00001499" "70" "-49057" "0" "-49057" "0" "c.-49057G>A" "r.(?)" "p.(=)" "" "0000541481" "00001499" "30" "-49055" "0" "-49055" "0" "c.-49055C>T" "r.(?)" "p.(=)" "" "0000541482" "00001499" "50" "-49047" "0" "-49047" "0" "c.-49047C>T" "r.(?)" "p.(=)" "" "0000541486" "00001499" "50" "-47034" "0" "-47034" "0" "c.-47034G>A" "r.(?)" "p.(=)" "" "0000541490" "00001499" "70" "-43540" "0" "-43540" "0" "c.-43540G>T" "r.(?)" "p.(=)" "" "0000541491" "00001499" "50" "-42053" "0" "-42053" "0" "c.-42053A>G" "r.(?)" "p.(=)" "" "0000541493" "00001499" "10" "103" "0" "103" "0" "c.103T>C" "r.(?)" "p.(Leu35=)" "" "0000541494" "00001499" "50" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(Gly66Asp)" "" "0000541495" "00001499" "30" "307" "0" "307" "0" "c.307A>C" "r.(?)" "p.(Arg103=)" "" "0000541496" "00001499" "30" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Ile184Val)" "" "0000541497" "00001499" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" "0000541498" "00001499" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" "0000541499" "00001499" "90" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250Gln)" "" "0000612770" "00001499" "30" "-52631" "0" "-52631" "0" "c.-52631G>C" "r.(?)" "p.(=)" "" "0000612771" "00001499" "70" "-49619" "0" "-49619" "0" "c.-49619G>T" "r.(?)" "p.(=)" "" "0000612772" "00001499" "50" "-49585" "0" "-49585" "0" "c.-49585G>A" "r.(?)" "p.(=)" "" "0000612773" "00001499" "10" "-49470" "0" "-49470" "0" "c.-49470C>T" "r.(?)" "p.(=)" "" "0000612774" "00001499" "90" "-42061" "0" "-42061" "0" "c.-42061G>A" "r.(?)" "p.(=)" "" "0000612775" "00001499" "50" "-41966" "0" "-41966" "0" "c.-41966C>T" "r.(?)" "p.(=)" "" "0000612776" "00001499" "30" "335" "-5" "335" "-5" "c.335-5T>C" "r.spl?" "p.?" "" "0000612777" "00001499" "90" "749" "0" "749" "0" "c.749G>C" "r.(?)" "p.(Arg250Pro)" "" "0000622453" "00001499" "50" "-43536" "0" "-43536" "0" "c.-43536C>T" "r.(?)" "p.(=)" "" "0000648030" "00001499" "30" "-34" "0" "-34" "0" "c.-34A>G" "r.(=)" "p.(=)" "" "0000656598" "00001499" "90" "749" "0" "749" "0" "c.749G>C" "r.(?)" "p.(Arg250Pro)" "" "0000656599" "00001499" "90" "968" "0" "987" "0" "c.968_987dup" "r.(?)" "p.(Glu330LysfsTer38)" "" "0000669087" "00001499" "30" "-34" "0" "-34" "0" "c.-34A>G" "r.(=)" "p.(=)" "" "0000678954" "00001499" "50" "-52681" "0" "-52681" "0" "c.-52681C>G" "r.(?)" "p.(=)" "" "0000678955" "00001499" "30" "-49482" "0" "-49482" "0" "c.-49482G>A" "r.(?)" "p.(=)" "" "0000678956" "00001499" "30" "505" "14" "505" "14" "c.505+14T>G" "r.(=)" "p.(=)" "" "0000723009" "00001499" "90" "-47064" "0" "-47064" "0" "c.-47064C>T" "r.(?)" "p.(=)" "" "0000804620" "00001499" "50" "-55640" "0" "-55640" "0" "c.-55640G>A" "r.(?)" "p.(=)" "" "0000804621" "00001499" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" "0000852624" "00001499" "90" "-52636" "0" "-52636" "0" "c.-52636C>A" "r.(?)" "p.(=)" "" "0000852625" "00001499" "10" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Gln47=)" "" "0000889308" "00001499" "70" "-55524" "0" "-55524" "0" "c.-55524G>C" "r.(?)" "p.(=)" "" "0000889309" "00001499" "50" "-49623" "0" "-49623" "0" "c.-49623C>G" "r.(?)" "p.(=)" "" "0000889310" "00001499" "90" "-49586" "0" "-49586" "0" "c.-49586C>T" "r.(?)" "p.(=)" "" "0000889311" "00001499" "30" "-43526" "0" "-43526" "0" "c.-43526G>A" "r.(?)" "p.(=)" "" "0000889312" "00001499" "30" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" "" "0000913363" "00001499" "70" "-51289" "0" "-51289" "0" "c.-51289C>T" "r.(?)" "p.(=)" "" "0000913364" "00001499" "50" "-49019" "0" "-49019" "0" "c.-49019C>G" "r.(?)" "p.(=)" "" "0000913365" "00001499" "70" "355" "0" "355" "0" "c.355T>A" "r.(?)" "p.(Cys119Ser)" "" "0000913366" "00001499" "30" "550" "0" "550" "0" "c.550A>G" "r.(?)" "p.(Ile184Val)" "" "0000913367" "00001499" "30" "578" "0" "578" "0" "c.578A>G" "r.(?)" "p.(Lys193Arg)" "" "0000913368" "00001499" "90" "776" "0" "776" "0" "c.776T>C" "r.(?)" "p.(Ile259Thr)" "" "0000913369" "00001499" "70" "847" "0" "847" "0" "c.847C>A" "r.(?)" "p.(Gln283Lys)" "" "0000929722" "00001499" "50" "-52692" "0" "-52692" "0" "c.-52692A>G" "r.(?)" "p.(=)" "" "0000929723" "00001499" "90" "-51334" "0" "-51334" "0" "c.-51334G>A" "r.(?)" "p.(=)" "" "0000929724" "00001499" "50" "-42071" "0" "-42071" "0" "c.-42071T>C" "r.(?)" "p.(=)" "" "0000949468" "00001499" "30" "-49055" "0" "-49055" "0" "c.-49055C>T" "r.(?)" "p.(=)" "" "0000949469" "00001499" "30" "-43893" "0" "-43893" "0" "c.-43893A>C" "r.(?)" "p.(=)" "" "0000965932" "00001499" "30" "-52474" "0" "-52474" "0" "c.-52474A>C" "r.(?)" "p.(=)" "" "0000965933" "00001499" "30" "-43624" "0" "-43624" "0" "c.-43624C>A" "r.(?)" "p.(=)" "" "0000965934" "00001499" "10" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Thr122Ile)" "" "0000979230" "00001499" "50" "-55530" "0" "-55530" "0" "c.-55530C>T" "r.(?)" "p.(=)" "" "0000979231" "00001499" "30" "-51363" "0" "-51363" "0" "c.-51363G>A" "r.(?)" "p.(=)" "" "0000979232" "00001499" "50" "-49039" "0" "-49039" "0" "c.-49039A>G" "r.(?)" "p.(=)" "" "0000979233" "00001499" "50" "-41963" "0" "-41963" "0" "c.-41963T>C" "r.(?)" "p.(=)" "" "0000998605" "00001499" "50" "-55589" "0" "-55589" "0" "c.-55589T>C" "r.(?)" "p.(=)" "" "0000998606" "00001499" "50" "-55539" "0" "-55539" "0" "c.-55539G>C" "r.(?)" "p.(=)" "" "0000998607" "00001499" "30" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Asp144Tyr)" "" "0000998608" "00001499" "50" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Glu194Lys)" "" "0001025797" "00001499" "70" "-52732" "0" "-52732" "0" "c.-52732del" "r.(?)" "p.(=)" "" "0001038090" "00001499" "50" "-52796" "0" "-52796" "0" "c.-52796G>A" "r.(?)" "p.(=)" "" "0001038091" "00001499" "50" "-52767" "0" "-52767" "0" "c.-52767C>T" "r.(?)" "p.(=)" "" "0001038092" "00001499" "30" "-51376" "0" "-51376" "0" "c.-51376G>A" "r.(?)" "p.(=)" "" "0001038093" "00001499" "50" "-51319" "0" "-51319" "0" "c.-51319C>T" "r.(?)" "p.(=)" "" "0001038094" "00001499" "50" "251" "0" "251" "0" "c.251C>T" "r.(?)" "p.(Pro84Leu)" "" "0001038095" "00001499" "50" "391" "0" "391" "0" "c.391C>A" "r.(?)" "p.(Pro131Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012864" "0000057191" "0000087480" "0000057192" "0000087481" "0000291341" "0000648030" "0000305399" "0000669087"