### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNFRSF1A) # 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}}" "TNFRSF1A" "tumor necrosis factor receptor superfamily, member 1A" "12" "p13.2" "unknown" "LRG_193" "UD_132118612094" "" "https://www.LOVD.nl/TNFRSF1A" "" "1" "11916" "7132" "191190" "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/TNFRSF1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-12-23 20:06:52" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00021547" "TNFRSF1A" "tumor necrosis factor receptor superfamily, member 1A" "001" "NM_001065.3" "" "NP_001056.1" "" "" "" "-303" "1923" "1368" "6451283" "6437923" "" "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" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "01366" "FPF" "fever, periodic, familial" "AD" "142680" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03731" "MS5" "multiple sclerosis susceptibility to, type 5 (MS-5)" "" "614810" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04152" "SPDA" "spondyloarthropathy (SPDA, ankylosing spondylitis)" "" "" "" "associated with" "" "00006" "2014-11-16 17:04:26" "00006" "2018-09-07 14:27:27" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TNFRSF1A" "01366" "TNFRSF1A" "03731" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00144522" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00180431" "" "" "" "1220" "" "02555" "{PMID:Brown 2016:26610302}" "British, Australian and New Zealand ancestry cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3512?snp=rs1800693&t=1535722572}" "" "British, Australian and New Zealand ancestry" "" "00181194" "" "" "" "1" "" "02552" "" "" "M" "no" "Switzerland" "" "0" "" "" "" "43990" "00390081" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "183341" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00144522" "00198" "00180431" "04152" "00181194" "00344" "00390081" "01366" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00344, 01366, 03731, 04152 ## Count = 4 "{{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}}" "0000117262" "00198" "00144522" "01807" "Unknown" "" "Recurrent fever (HP:0001954); Recurrent aphthous stomatitis (HP:0011107)" "" "" "" "" "" "" "" "" "" "" "" "0000142826" "04152" "00180431" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "Ankylosing spondylitis (AS)" "Ankylosing spondylitis" "" "0000144000" "00344" "00181194" "02552" "Isolated (sporadic)" "" "" "00y07m" "" "" "" "" "" "" "" "" "" "" "0000283619" "01366" "00390081" "01164" "Familial, autosomal dominant" "" "" "10y" "" "" "" "" "" "" "" "" "TRAPS" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000145379" "00144522" "0" "01807" "01807" "2017-12-16 16:30:50" "" "" "SEQ" "DNA" "" "" "0000181368" "00180431" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000182152" "00181194" "1" "02552" "02552" "2018-10-02 17:48:06" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000391322" "00390081" "1" "01164" "01164" "2021-11-10 08:13:39" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000181368" "TNFRSF1A" "0000391322" "TNFRSF1A" ## 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 = 182 "{{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}}" "0000236492" "0" "50" "12" "6439066" "6439066" "subst" "0.00041835" "01807" "TNFRSF1A_000001" "g.6439066C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.6329900C>T" "" "VUS" "" "0000248235" "0" "10" "12" "6439470" "6439470" "subst" "0.280801" "02325" "TNFRSF1A_000008" "g.6439470A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.740-9T>C, TNFRSF1A(NM_001065.4):c.740-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330304A>G" "" "benign" "" "0000249176" "0" "10" "12" "6442346" "6442346" "subst" "0.644559" "02325" "TNFRSF1A_000019" "g.6442346A>G" "" "" "" "TNFRSF1A(NM_001065.4):c.473-33T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333180A>G" "" "benign" "" "0000250843" "0" "50" "12" "6443327" "6443327" "subst" "0.000166938" "02326" "TNFRSF1A_000118" "g.6443327A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334161A>C" "" "VUS" "" "0000250938" "0" "10" "12" "6439470" "6439470" "subst" "0.280801" "02326" "TNFRSF1A_000008" "g.6439470A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.740-9T>C, TNFRSF1A(NM_001065.4):c.740-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330304A>G" "" "benign" "" "0000251511" "0" "10" "12" "6439255" "6439255" "subst" "1" "02326" "TNFRSF1A_000006" "g.6439255A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.769-23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330089=" "" "benign" "" "0000252216" "0" "30" "12" "6439237" "6439237" "subst" "0" "02326" "TNFRSF1A_000005" "g.6439237A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.769-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330071A>G" "" "likely benign" "" "0000252217" "0" "30" "12" "6442516" "6442516" "subst" "0" "02326" "TNFRSF1A_000022" "g.6442516A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.472+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333350A>G" "" "likely benign" "" "0000252379" "0" "70" "12" "6442583" "6442583" "subst" "0" "02326" "TNFRSF1A_000027" "g.6442583A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.422T>G (p.F141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333417A>C" "" "likely pathogenic" "" "0000252380" "0" "70" "12" "6442584" "6442584" "subst" "0" "02326" "TNFRSF1A_000029" "g.6442584A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.421T>C (p.F141L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333418A>G" "" "likely pathogenic" "" "0000252381" "0" "70" "12" "6442583" "6442583" "subst" "0" "02326" "TNFRSF1A_000028" "g.6442583A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.422T>C (p.F141S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333417A>G" "" "likely pathogenic" "" "0000252385" "0" "70" "12" "6442959" "6442959" "subst" "0" "02326" "TNFRSF1A_000068" "g.6442959A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.266T>C (p.F89S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333793A>G" "" "likely pathogenic" "" "0000252467" "0" "90" "12" "6442921" "6442921" "subst" "0" "02326" "TNFRSF1A_000125" "g.6442921A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.304T>C (p.C102R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333755A>G" "" "pathogenic" "" "0000252469" "0" "90" "12" "6442656" "6442656" "subst" "0" "02326" "TNFRSF1A_000047" "g.6442656A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.349T>C (p.C117R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333490A>G" "" "pathogenic" "" "0000252470" "0" "90" "12" "6442630" "6442630" "subst" "0" "02326" "TNFRSF1A_000039" "g.6442630A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.375T>G (p.C125W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333464A>C" "" "pathogenic" "" "0000252471" "0" "90" "12" "6442626" "6442626" "subst" "0" "02326" "TNFRSF1A_000038" "g.6442626A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.379T>C (p.C127R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333460A>G" "" "pathogenic" "" "0000252475" "0" "90" "12" "6443278" "6443278" "subst" "0" "02326" "TNFRSF1A_000106" "g.6443278A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.172T>G (p.C58G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334112A>C" "" "pathogenic" "" "0000252476" "0" "90" "12" "6443278" "6443278" "subst" "0" "02326" "TNFRSF1A_000107" "g.6443278A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.172T>C (p.C58R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334112A>G" "" "pathogenic" "" "0000252477" "0" "90" "12" "6443266" "6443266" "subst" "0" "02326" "TNFRSF1A_000101" "g.6443266A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.184T>G (p.C62G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334100A>C" "" "pathogenic" "" "0000252478" "0" "90" "12" "6443011" "6443011" "subst" "0" "02326" "TNFRSF1A_000088" "g.6443011A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.214T>C (p.C72R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333845A>G" "" "pathogenic" "" "0000252479" "0" "90" "12" "6442984" "6442984" "subst" "0" "02326" "TNFRSF1A_000082" "g.6442984A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.241T>C (p.C81R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333818A>G" "" "pathogenic" "" "0000252480" "0" "90" "12" "6442975" "6442975" "subst" "0" "02326" "TNFRSF1A_000075" "g.6442975A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.250T>C (p.C84R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333809A>G" "" "pathogenic" "" "0000252481" "0" "90" "12" "6442930" "6442930" "subst" "0" "02326" "TNFRSF1A_000057" "g.6442930A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.295T>G (p.C99G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333764A>C" "" "pathogenic" "" "0000252482" "0" "90" "12" "6442930" "6442930" "subst" "0" "02326" "TNFRSF1A_000058" "g.6442930A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.295T>C (p.C99R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333764A>G" "" "pathogenic" "" "0000252483" "0" "90" "12" "6442930" "6442930" "subst" "0" "02326" "TNFRSF1A_000059" "g.6442930A>T" "" "" "" "TNFRSF1A(NM_001065.3):c.295T>A (p.C99S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333764A>T" "" "pathogenic" "" "0000252489" "0" "90" "12" "6442584" "6442584" "subst" "0" "02326" "TNFRSF1A_000030" "g.6442584A>T" "" "" "" "TNFRSF1A(NM_001065.3):c.421T>A (p.F141I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333418A>T" "" "pathogenic" "" "0000252500" "0" "90" "12" "6442960" "6442960" "subst" "0" "02326" "TNFRSF1A_000069" "g.6442960A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.265T>C (p.F89L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333794A>G" "" "pathogenic" "" "0000252501" "0" "90" "12" "6442960" "6442960" "subst" "0" "02326" "TNFRSF1A_000070" "g.6442960A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.265T>G (p.F89V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333794A>C" "" "pathogenic" "" "0000252515" "0" "90" "12" "6440048" "6440048" "subst" "0" "02326" "TNFRSF1A_000015" "g.6440048A>T" "" "" "" "TNFRSF1A(NM_001065.3):c.596T>A (p.I199N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330882A>T" "" "pathogenic" "" "0000252549" "0" "90" "12" "6442938" "6442938" "subst" "0" "02326" "TNFRSF1A_000061" "g.6442938A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.287T>C (p.L96P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333772A>G" "" "pathogenic" "" "0000252568" "0" "90" "12" "6442662" "6442662" "subst" "0" "02326" "TNFRSF1A_000048" "g.6442662A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.343T>C (p.S115P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333496A>G" "" "pathogenic" "" "0000252584" "0" "90" "12" "6440039" "6440039" "subst" "0" "02326" "TNFRSF1A_000014" "g.6440039A>T" "" "" "" "TNFRSF1A(NM_001065.3):c.605T>A (p.V202D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330873A>T" "" "pathogenic" "" "0000252602" "0" "90" "12" "6443305" "6443305" "subst" "0" "02326" "TNFRSF1A_000115" "g.6443305A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.145T>G (p.Y49D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334139A>C" "" "pathogenic" "" "0000252603" "0" "90" "12" "6443305" "6443305" "subst" "0" "02326" "TNFRSF1A_000116" "g.6443305A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.145T>C (p.Y49H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334139A>G" "" "pathogenic" "" "0000252699" "0" "50" "12" "6443280" "6443280" "subst" "0" "02326" "TNFRSF1A_000108" "g.6443280A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.170T>G (p.I57S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334114A>C" "" "VUS" "" "0000252784" "0" "50" "12" "6443391" "6443391" "subst" "0" "02326" "TNFRSF1A_000119" "g.6443391A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.59T>C (p.V20A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334225A>G" "" "VUS" "" "0000255785" "0" "50" "12" "6443327" "6443327" "subst" "0.000166938" "01943" "TNFRSF1A_000118" "g.6443327A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334161A>C" "" "VUS" "" "0000311918" "0" "10" "12" "6450945" "6450945" "subst" "0.374959" "02325" "TNFRSF1A_000123" "g.6450945T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.36A>G (p.P12=), TNFRSF1A(NM_001065.4):c.36A>G (p.P12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6341779T>C" "" "benign" "" "0000311919" "0" "10" "12" "6440009" "6440009" "subst" "0.36151" "02325" "TNFRSF1A_000013" "g.6440009T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.625+10A>G, TNFRSF1A(NM_001065.4):c.625+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330843T>C" "" "benign" "" "0000314628" "0" "30" "12" "6438771" "6438771" "subst" "0.000542166" "02326" "TNFRSF1A_000004" "g.6438771G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.1075C>T (p.L359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6329605G>A" "" "likely benign" "" "0000314629" "0" "50" "12" "6438766" "6438766" "subst" "0" "02326" "TNFRSF1A_000003" "g.6438766G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.1080C>G (p.Y360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6329600G>C" "" "VUS" "" "0000314630" "0" "30" "12" "6438736" "6438736" "subst" "0.00190164" "02326" "TNFRSF1A_000002" "g.6438736G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.1110C>T (p.R370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6329570G>A" "" "likely benign" "" "0000314631" "0" "90" "12" "6443319" "6443319" "subst" "0" "02326" "TNFRSF1A_000117" "g.6443319C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.131G>A (p.C44Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334153C>T" "" "pathogenic" "" "0000314632" "0" "70" "12" "6443304" "6443304" "subst" "0" "02326" "TNFRSF1A_000114" "g.6443304T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.146A>G (p.Y49C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334138T>C" "" "likely pathogenic" "" "0000314633" "0" "90" "12" "6443299" "6443299" "subst" "0" "02326" "TNFRSF1A_000113" "g.6443299G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.151C>T (p.H51Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334133G>A" "" "pathogenic" "" "0000314634" "0" "70" "12" "6443298" "6443298" "subst" "0" "02326" "TNFRSF1A_000112" "g.6443298T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.152A>G (p.H51R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334132T>C" "" "likely pathogenic" "" "0000314635" "0" "50" "12" "6443297" "6443297" "subst" "0" "02326" "TNFRSF1A_000111" "g.6443297G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.153C>G (p.H51Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334131G>C" "" "VUS" "" "0000314636" "0" "10" "12" "6450966" "6450966" "subst" "0.000109929" "02326" "TNFRSF1A_000124" "g.6450966G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.15C>T (p.T5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6341800G>A" "" "benign" "" "0000314637" "0" "50" "12" "6443290" "6443290" "subst" "0" "02326" "TNFRSF1A_000110" "g.6443290T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.160A>G (p.N54D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334124T>C" "" "VUS" "" "0000314638" "0" "30" "12" "6443282" "6443282" "subst" "2.44575E-5" "02326" "TNFRSF1A_000109" "g.6443282C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.168G>A (p.S56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334116C>T" "" "likely benign" "" "0000314639" "0" "90" "12" "6443277" "6443277" "subst" "0" "02326" "TNFRSF1A_000104" "g.6443277C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.173G>A (p.C58Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334111C>T" "" "pathogenic" "" "0000314640" "0" "90" "12" "6443277" "6443277" "subst" "0" "02326" "TNFRSF1A_000105" "g.6443277C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.173G>C (p.C58S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334111C>G" "" "pathogenic" "" "0000314641" "0" "90" "12" "6443274" "6443274" "subst" "0" "02326" "TNFRSF1A_000102" "g.6443274C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.176G>C (p.C59S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334108C>G" "" "pathogenic" "" "0000314642" "0" "90" "12" "6443274" "6443274" "subst" "0" "02326" "TNFRSF1A_000103" "g.6443274C>A" "" "" "" "TNFRSF1A(NM_001065.3):c.176G>T (p.C59F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334108C>A" "" "pathogenic" "" "0000314643" "0" "90" "12" "6443265" "6443265" "subst" "0" "02326" "TNFRSF1A_000100" "g.6443265C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.185G>A (p.C62Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6334099C>T" "" "pathogenic" "" "0000314644" "0" "90" "12" "6443045" "6443045" "subst" "0.000136234" "02326" "TNFRSF1A_000096" "g.6443045C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.194-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333879C>T" "" "pathogenic" "" "0000314645" "0" "30" "12" "6443046" "6443046" "subst" "0" "02326" "TNFRSF1A_000097" "g.6443046G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.194-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333880G>A" "" "likely benign" "" "0000314646" "0" "30" "12" "6443060" "6443060" "subst" "0.000884307" "02326" "TNFRSF1A_000098" "g.6443060C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.194-29G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333894C>T" "" "likely benign" "" "0000314647" "0" "30" "12" "6443111" "6443111" "subst" "0" "02326" "TNFRSF1A_000099" "g.6443111G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.194-80C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333945G>A" "" "likely benign" "" "0000314648" "0" "70" "12" "6443031" "6443031" "subst" "0" "02326" "TNFRSF1A_000095" "g.6443031C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.194G>A (p.G65E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333865C>T" "" "likely pathogenic" "" "0000314649" "0" "50" "12" "6443028" "6443028" "subst" "0" "02326" "TNFRSF1A_000094" "g.6443028G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.197C>T (p.T66I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333862G>A" "" "VUS" "" "0000314650" "0" "70" "12" "6443025" "6443025" "subst" "0" "02326" "TNFRSF1A_000092" "g.6443025T>G" "" "" "" "TNFRSF1A(NM_001065.3):c.200A>C (p.Y67S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333859T>G" "" "likely pathogenic" "" "0000314651" "0" "90" "12" "6443025" "6443025" "subst" "0" "02326" "TNFRSF1A_000093" "g.6443025T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.200A>G (p.Y67C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333859T>C" "" "pathogenic" "" "0000314652" "0" "70" "12" "6443021" "6443021" "subst" "0" "02326" "TNFRSF1A_000091" "g.6443021C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.204G>C (p.L68F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333855C>G" "" "likely pathogenic" "" "0000314653" "0" "90" "12" "6443012" "6443014" "del" "0" "02326" "TNFRSF1A_000090" "g.6443012_6443014del" "" "" "" "TNFRSF1A(NM_001065.3):c.211_213delGAC (p.D71del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333846_6333848del" "" "pathogenic" "" "0000314654" "0" "50" "12" "6443012" "6443012" "subst" "0" "02326" "TNFRSF1A_000089" "g.6443012G>T" "" "" "" "TNFRSF1A(NM_001065.3):c.213C>A (p.D71E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333846G>T" "" "VUS" "" "0000314655" "0" "90" "12" "6443010" "6443010" "subst" "0" "02326" "TNFRSF1A_000086" "g.6443010C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.215G>A (p.C72Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333844C>T" "" "pathogenic" "" "0000314656" "0" "90" "12" "6443010" "6443010" "subst" "0" "02326" "TNFRSF1A_000087" "g.6443010C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.215G>C (p.C72S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333844C>G" "" "pathogenic" "" "0000314657" "0" "30" "12" "6443001" "6443001" "subst" "0.00550402" "02326" "TNFRSF1A_000085" "g.6443001G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.224C>T (p.P75L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333835G>A" "" "likely benign" "" "0000314658" "0" "30" "12" "6442997" "6442997" "subst" "3.65868E-5" "02326" "TNFRSF1A_000084" "g.6442997C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.228G>A (p.G76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333831C>T" "" "likely benign" "" "0000314659" "0" "90" "12" "6442989" "6442989" "subst" "0" "02326" "TNFRSF1A_000083" "g.6442989G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.236C>T (p.T79M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333823G>A" "" "pathogenic" "" "0000314660" "0" "90" "12" "6442983" "6442983" "subst" "0" "02326" "TNFRSF1A_000079" "g.6442983C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.242G>A (p.C81Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333817C>T" "" "pathogenic" "" "0000314661" "0" "90" "12" "6442983" "6442983" "subst" "0" "02326" "TNFRSF1A_000080" "g.6442983C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.242G>C (p.C81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333817C>G" "" "pathogenic" "" "0000314662" "0" "90" "12" "6442983" "6442983" "subst" "0" "02326" "TNFRSF1A_000081" "g.6442983C>A" "" "" "" "TNFRSF1A(NM_001065.3):c.242G>T (p.C81F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333817C>A" "" "pathogenic" "" "0000314663" "0" "90" "12" "6442982" "6442982" "subst" "0" "02326" "TNFRSF1A_000078" "g.6442982G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.243C>G (p.C81W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333816G>C" "" "pathogenic" "" "0000314664" "0" "50" "12" "6442981" "6442981" "subst" "0" "02326" "TNFRSF1A_000077" "g.6442981T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.244A>G (p.R82G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333815T>C" "" "VUS" "" "0000314665" "0" "30" "12" "6442976" "6442976" "subst" "0.000142388" "02326" "TNFRSF1A_000076" "g.6442976C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.249G>A (p.E83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333810C>T" "" "likely benign" "" "0000314666" "0" "90" "12" "6442974" "6442974" "subst" "0" "02326" "TNFRSF1A_000073" "g.6442974C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.251G>A (p.C84Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333808C>T" "" "pathogenic" "" "0000314667" "0" "90" "12" "6442974" "6442974" "subst" "0" "02326" "TNFRSF1A_000074" "g.6442974C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.251G>C (p.C84S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333808C>G" "" "pathogenic" "" "0000314668" "0" "90" "12" "6442949" "6442972" "del" "0" "02326" "TNFRSF1A_000066" "g.6442949_6442972del" "" "" "" "TNFRSF1A(NM_001065.3):c.255_278delGAGCGGCTCCTTCACCGCTTCAGA (p.S86_E93del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333783_6333806del" "" "pathogenic" "" "0000314669" "0" "70" "12" "6442970" "6442970" "subst" "4.35641E-5" "02326" "TNFRSF1A_000072" "g.6442970C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.255G>C (p.E85D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333804C>G" "" "likely pathogenic" "" "0000314670" "0" "50" "12" "6442966" "6442966" "subst" "0" "02326" "TNFRSF1A_000071" "g.6442966C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.259G>A (p.G87S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333800C>T" "" "VUS" "" "0000314671" "0" "90" "12" "6442956" "6442956" "subst" "0" "02326" "TNFRSF1A_000067" "g.6442956G>T" "" "" "" "TNFRSF1A(NM_001065.3):c.269C>A (p.T90N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333790G>T" "" "pathogenic" "" "0000314672" "0" "90" "12" "6442944" "6442944" "subst" "0" "02326" "TNFRSF1A_000065" "g.6442944T>A" "" "" "" "TNFRSF1A(NM_001065.3):c.281A>T (p.N94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333778T>A" "" "pathogenic" "" "0000314673" "0" "70" "12" "6442942" "6442942" "subst" "0" "02326" "TNFRSF1A_000064" "g.6442942G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.283C>T (p.H95Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333776G>A" "" "likely pathogenic" "" "0000314674" "0" "70" "12" "6442941" "6442941" "subst" "0" "02326" "TNFRSF1A_000062" "g.6442941T>G" "" "" "" "TNFRSF1A(NM_001065.3):c.284A>C (p.H95P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333775T>G" "" "likely pathogenic" "" "0000314675" "0" "70" "12" "6442941" "6442941" "subst" "0" "02326" "TNFRSF1A_000063" "g.6442941T>A" "" "" "" "TNFRSF1A(NM_001065.3):c.284A>T (p.H95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333775T>A" "" "likely pathogenic" "" "0000314676" "0" "90" "12" "6442930" "6442932" "del" "0" "02326" "TNFRSF1A_000060" "g.6442930_6442932del" "" "" "" "TNFRSF1A(NM_001065.3):c.293_295delACT (p.H98_C99delinsR)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333764_6333766del" "" "pathogenic" "" "0000314677" "0" "90" "12" "6442929" "6442929" "subst" "0" "02326" "TNFRSF1A_000056" "g.6442929C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.296G>A (p.C99Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333763C>T" "" "pathogenic" "" "0000314678" "0" "90" "12" "6442919" "6442919" "subst" "0" "02326" "TNFRSF1A_000055" "g.6442919G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.306C>G (p.C102W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333753G>C" "" "pathogenic" "" "0000314679" "0" "70" "12" "6442917" "6442917" "subst" "0" "02326" "TNFRSF1A_000054" "g.6442917G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.308C>G (p.S103C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333751G>C" "" "likely pathogenic" "" "0000314680" "0" "90" "12" "6442911" "6442911" "subst" "0" "02326" "TNFRSF1A_000053" "g.6442911C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.314G>A (p.C105Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333745C>T" "" "pathogenic" "" "0000314681" "0" "30" "12" "6442714" "6442714" "subst" "0" "02326" "TNFRSF1A_000052" "g.6442714T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.323-32A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333548T>C" "" "likely benign" "" "0000314682" "0" "50" "12" "6442674" "6442674" "subst" "0" "02326" "TNFRSF1A_000051" "g.6442674G>T" "" "" "" "TNFRSF1A(NM_001065.3):c.331C>A (p.Q111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333508G>T" "" "VUS" "" "0000314683" "0" "50" "12" "6442671" "6442671" "subst" "5.28112E-5" "02326" "TNFRSF1A_000049" "g.6442671C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.334G>A (p.V112M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333505C>T" "" "VUS" "" "0000314684" "0" "50" "12" "6442671" "6442671" "subst" "0" "02326" "TNFRSF1A_000050" "g.6442671C>A" "" "" "" "TNFRSF1A(NM_001065.3):c.334G>T (p.V112L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333505C>A" "" "VUS" "" "0000314685" "0" "90" "12" "6442654" "6442655" "delins" "0" "02326" "TNFRSF1A_000045" "g.6442654_6442655delinsTG" "" "" "" "TNFRSF1A(NM_001065.3):c.350_351delGCinsCA (p.C117S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333488_6333489delinsTG" "" "pathogenic" "" "0000314686" "0" "90" "12" "6442655" "6442655" "subst" "0" "02326" "TNFRSF1A_000046" "g.6442655C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.350G>A (p.C117Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333489C>T" "" "pathogenic" "" "0000314687" "0" "70" "12" "6442644" "6442644" "subst" "0" "02326" "TNFRSF1A_000044" "g.6442644G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.361C>T (p.R121W), TNFRSF1A(NM_001065.4):c.361C>T (p.R121W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333478G>A" "" "likely pathogenic" "" "0000314688" "0" "30" "12" "6442636" "6442636" "subst" "0.00035346" "02326" "TNFRSF1A_000043" "g.6442636G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.369C>T (p.T123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333470G>A" "" "likely benign" "" "0000314689" "0" "10" "12" "6450945" "6450945" "subst" "0.374959" "02326" "TNFRSF1A_000123" "g.6450945T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.36A>G (p.P12=), TNFRSF1A(NM_001065.4):c.36A>G (p.P12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6341779T>C" "" "benign" "" "0000314690" "0" "50" "12" "6442635" "6442635" "subst" "0.00022345" "02326" "TNFRSF1A_000042" "g.6442635C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.370G>A (p.V124M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333469C>T" "" "VUS" "" "0000314691" "0" "90" "12" "6442631" "6442631" "subst" "0" "02326" "TNFRSF1A_000040" "g.6442631C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.374G>A (p.C125Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333465C>T" "" "pathogenic" "" "0000314692" "0" "90" "12" "6442631" "6442631" "subst" "0" "02326" "TNFRSF1A_000041" "g.6442631C>A" "" "" "" "TNFRSF1A(NM_001065.3):c.374G>T (p.C125F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333465C>A" "" "pathogenic" "" "0000314693" "0" "90" "12" "6442625" "6442625" "subst" "0" "02326" "TNFRSF1A_000037" "g.6442625C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.380G>A (p.C127Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333459C>T" "" "pathogenic" "" "0000314694" "0" "30" "12" "6450845" "6450845" "subst" "0" "02326" "TNFRSF1A_000122" "g.6450845C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.39+97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6341679C>T" "" "likely benign" "" "0000314695" "0" "50" "12" "6442615" "6442615" "subst" "0" "02326" "TNFRSF1A_000036" "g.6442615G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.390C>G (p.N130K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333449G>C" "" "VUS" "" "0000314696" "0" "70" "12" "6442607" "6442612" "del" "0" "02326" "TNFRSF1A_000033" "g.6442607_6442612del" "" "" "" "TNFRSF1A(NM_001065.3):c.394_399delTACCGG (p.Y132_R133del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333441_6333446del" "" "likely pathogenic" "" "0000314697" "0" "50" "12" "6442608" "6442608" "subst" "4.06514E-6" "02326" "TNFRSF1A_000035" "g.6442608G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.397C>T (p.R133W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333442G>A" "" "VUS" "" "0000314698" "0" "50" "12" "6442607" "6442607" "subst" "4.47245E-5" "02326" "TNFRSF1A_000034" "g.6442607C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.398G>A (p.R133Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333441C>T" "" "VUS" "" "0000314699" "0" "10" "12" "6446777" "6446777" "subst" "0" "02326" "TNFRSF1A_000121" "g.6446777G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.40-3367C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6337611G>A" "" "benign" "" "0000314700" "0" "30" "12" "6444391" "6444391" "subst" "0" "02326" "TNFRSF1A_000120" "g.6444391G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.40-981C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6335225G>A" "" "likely benign" "" "0000314701" "0" "50" "12" "6442604" "6442604" "subst" "0" "02326" "TNFRSF1A_000032" "g.6442604T>G" "" "" "" "TNFRSF1A(NM_001065.3):c.401A>C (p.H134P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333438T>G" "" "VUS" "" "0000314702" "0" "50" "12" "6442592" "6442592" "subst" "0" "02326" "TNFRSF1A_000031" "g.6442592T>G" "" "" "" "TNFRSF1A(NM_001065.3):c.413A>C (p.E138A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333426T>G" "" "VUS" "" "0000314703" "0" "30" "12" "6442571" "6442571" "subst" "8.96342E-5" "02326" "TNFRSF1A_000026" "g.6442571T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.434A>G (p.N145S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333405T>C" "" "likely benign" "" "0000314704" "0" "30" "12" "6442546" "6442546" "subst" "6.13743E-5" "02326" "TNFRSF1A_000025" "g.6442546G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.459C>T (p.T153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333380G>A" "" "likely benign" "" "0000314705" "0" "90" "12" "6442532" "6442532" "subst" "4.10041E-6" "02326" "TNFRSF1A_000024" "g.6442532C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.472+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333366C>T" "" "pathogenic" "" "0000314706" "0" "30" "12" "6442469" "6442469" "subst" "0.00142176" "02326" "TNFRSF1A_000021" "g.6442469G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.472+64C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333303G>A" "" "likely benign" "" "0000314707" "0" "10" "12" "6442527" "6442527" "subst" "2.87831E-5" "02326" "TNFRSF1A_000023" "g.6442527G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.472+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333361G>A" "" "benign" "" "0000314708" "0" "30" "12" "6442329" "6442329" "subst" "8.14001E-5" "02326" "TNFRSF1A_000018" "g.6442329C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.473-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333163C>T" "" "likely benign" "" "0000314709" "0" "10" "12" "6442385" "6442385" "subst" "0.00732286" "02326" "TNFRSF1A_000020" "g.6442385C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.473-72G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6333219C>T" "" "benign" "" "0000314710" "0" "30" "12" "6440181" "6440181" "subst" "0" "02326" "TNFRSF1A_000017" "g.6440181T>A" "" "" "" "TNFRSF1A(NM_001065.3):c.552-89A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6331015T>A" "" "likely benign" "" "0000314711" "0" "30" "12" "6440086" "6440086" "subst" "8.13121E-6" "02326" "TNFRSF1A_000016" "g.6440086C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.558G>A (p.K186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330920C>T" "" "likely benign" "" "0000314712" "0" "10" "12" "6440009" "6440009" "subst" "0.36151" "02326" "TNFRSF1A_000013" "g.6440009T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.625+10A>G, TNFRSF1A(NM_001065.4):c.625+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330843T>C" "" "benign" "" "0000314713" "0" "30" "12" "6439966" "6439966" "subst" "0" "02326" "TNFRSF1A_000012" "g.6439966G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.625+53C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330800G>A" "" "likely benign" "" "0000314714" "0" "10" "12" "6439909" "6439909" "subst" "0.0032614" "02326" "TNFRSF1A_000010" "g.6439909C>A" "" "" "" "TNFRSF1A(NM_001065.3):c.626-32G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330743C>A" "" "benign" "" "0000314715" "0" "10" "12" "6439910" "6439910" "subst" "5.30946E-5" "02326" "TNFRSF1A_000011" "g.6439910G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.626-33C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330744G>A" "" "benign" "" "0000314716" "0" "50" "12" "6439826" "6439826" "subst" "4.06395E-6" "02326" "TNFRSF1A_000009" "g.6439826G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.677C>G (p.S226C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330660G>C" "" "VUS" "" "0000314717" "0" "30" "12" "6439391" "6439391" "del" "0.0122591" "02326" "TNFRSF1A_000007" "g.6439391del" "" "" "" "TNFRSF1A(NM_001065.3):c.768+42delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6330225del" "" "likely benign" "" "0000314718" "0" "30" "12" "6439066" "6439066" "subst" "0.00041835" "02326" "TNFRSF1A_000001" "g.6439066C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.935G>A (p.R312K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6329900C>T" "" "likely benign" "" "0000316807" "0" "30" "12" "6438771" "6438771" "subst" "0.000542166" "01943" "TNFRSF1A_000004" "g.6438771G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.1075C>T (p.L359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6329605G>A" "" "likely benign" "" "0000316808" "0" "30" "12" "6438736" "6438736" "subst" "0.00190164" "01943" "TNFRSF1A_000002" "g.6438736G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.1110C>T (p.R370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6329570G>A" "" "likely benign" "" "0000405064" "0" "50" "12" "6440009" "6440009" "subst" "0.36151" "02555" "TNFRSF1A_000013" "g.6440009T>C" "1220/3390 cases" "{PMID:Brown 2016:26610302}" "" "" "{DB:Uveo3512?snp=rs1800693&t=1535722572}" "Germline" "" "rs1800693" "0" "" "" "g.6330843T>C" "" "VUS" "" "0000405988" "11" "30" "12" "6442643" "6442643" "subst" "0.0131955" "02552" "TNFRSF1A_000126" "g.6442643C>T" "" "{PMID:Papuc 2019:30552426}" "" "" "" "Germline" "" "rs4149584" "0" "" "" "g.6333477C>T" "" "likely benign" "" "0000548938" "0" "30" "12" "6438589" "6438589" "subst" "2.45218E-5" "02326" "PLEKHG6_000006" "g.6438589C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.1257G>A (p.E419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6329423C>T" "" "likely benign" "" "0000548939" "0" "30" "12" "6439825" "6439825" "subst" "0" "02326" "PLEKHG6_000007" "g.6439825G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.678C>G (p.S226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6330659G>C" "" "likely benign" "" "0000548940" "0" "70" "12" "6440034" "6440060" "del" "0" "02326" "PLEKHG6_000008" "g.6440034_6440060del" "" "" "" "TNFRSF1A(NM_001065.3):c.586_612delCTACCCCAGATTGAGAATGTTAAGGGC (p.L196_G204del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6330868_6330894del" "" "likely pathogenic" "" "0000548941" "0" "90" "12" "6442578" "6442578" "subst" "0" "02326" "PLEKHG6_000009" "g.6442578A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.427T>C (p.C143R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333412A>G" "" "pathogenic" "" "0000548942" "0" "50" "12" "6442601" "6442601" "subst" "0" "02326" "PLEKHG6_000010" "g.6442601T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.404A>G (p.Y135C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333435T>C" "" "VUS" "" "0000548943" "0" "50" "12" "6442639" "6442639" "subst" "0" "02326" "PLEKHG6_000011" "g.6442639G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.366C>G (p.D122E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333473G>C" "" "VUS" "" "0000548944" "0" "50" "12" "6442643" "6442643" "subst" "4.06266E-6" "02326" "PLEKHG6_000012" "g.6442643C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.362G>C (p.R121P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333477C>G" "" "VUS" "" "0000548945" "0" "50" "12" "6442643" "6442643" "subst" "0.0131955" "02325" "TNFRSF1A_000126" "g.6442643C>T" "" "" "" "TNFRSF1A(NM_001065.4):c.362G>A (p.R121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333477C>T" "" "VUS" "" "0000548947" "0" "70" "12" "6442653" "6442653" "subst" "0" "02326" "PLEKHG6_000013" "g.6442653T>C" "" "" "" "TNFRSF1A(NM_001065.3):c.352A>G (p.T118A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333487T>C" "" "likely pathogenic" "" "0000548948" "0" "30" "12" "6442701" "6442701" "subst" "0" "02326" "TNFRSF1A_000127" "g.6442701G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.323-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333535G>A" "" "likely benign" "" "0000548949" "0" "70" "12" "6442943" "6442943" "subst" "0" "02326" "TNFRSF1A_000128" "g.6442943G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.282C>G (p.N94K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333777G>C" "" "likely pathogenic" "" "0000548950" "0" "90" "12" "6442958" "6442958" "subst" "0" "02326" "TNFRSF1A_000129" "g.6442958G>T" "" "" "" "TNFRSF1A(NM_001065.3):c.267C>A (p.F89L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333792G>T" "" "pathogenic" "" "0000548951" "0" "90" "12" "6442963" "6442963" "subst" "0" "02326" "TNFRSF1A_000130" "g.6442963A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.262T>C (p.S88P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333797A>G" "" "pathogenic" "" "0000548952" "0" "90" "12" "6443010" "6443010" "subst" "0" "02326" "TNFRSF1A_000131" "g.6443010C>A" "" "" "" "TNFRSF1A(NM_001065.3):c.215G>T (p.C72F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333844C>A" "" "pathogenic" "" "0000548953" "0" "30" "12" "6443050" "6443051" "del" "0" "02326" "TNFRSF1A_000132" "g.6443050_6443051del" "" "" "" "TNFRSF1A(NM_001065.3):c.194-18_194-17delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6333884_6333885del" "" "likely benign" "" "0000548954" "0" "90" "12" "6443274" "6443274" "subst" "0" "02326" "TNFRSF1A_000133" "g.6443274C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.176G>A (p.C59Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6334108C>T" "" "pathogenic" "" "0000548955" "0" "90" "12" "6443275" "6443275" "subst" "0" "02326" "TNFRSF1A_000134" "g.6443275A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.175T>C (p.C59R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6334109A>G" "" "pathogenic" "" "0000548956" "0" "90" "12" "6443277" "6443277" "subst" "0" "02326" "TNFRSF1A_000135" "g.6443277C>A" "" "" "" "TNFRSF1A(NM_001065.3):c.173G>T (p.C58F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6334111C>A" "" "pathogenic" "" "0000614354" "0" "30" "12" "6438963" "6438963" "subst" "4.75547E-6" "01943" "PLEKHG6_000015" "g.6438963G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.1038C>G (p.H346Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6329797G>C" "" "likely benign" "" "0000614355" "0" "30" "12" "6439831" "6439831" "subst" "7.31392E-5" "01943" "PLEKHG6_000016" "g.6439831A>G" "" "" "" "TNFRSF1A(NM_001065.3):c.672T>C (p.L224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6330665A>G" "" "likely benign" "" "0000691403" "0" "30" "12" "6438479" "6438479" "subst" "0" "01943" "PLEKHG6_000017" "g.6438479C>T" "" "" "" "TNFRSF1A(NM_001346092.1):c.908G>A (p.*303=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691404" "0" "10" "12" "6441190" "6441190" "dup" "0" "02326" "PLEKHG6_000018" "g.6441190dup" "" "" "" "TNFRSF1A(NM_001346092.2):c.-26-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000724196" "0" "30" "12" "6442636" "6442636" "subst" "0.00035346" "01943" "TNFRSF1A_000043" "g.6442636G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.369C>T (p.T123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724197" "0" "50" "12" "6442976" "6442976" "subst" "0.000142388" "01943" "TNFRSF1A_000076" "g.6442976C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.249G>A (p.E83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805905" "0" "30" "12" "6438963" "6438963" "subst" "4.75547E-6" "02326" "PLEKHG6_000015" "g.6438963G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.1038C>G (p.H346Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805906" "0" "90" "12" "6443299" "6443299" "subst" "0" "02327" "TNFRSF1A_000113" "g.6443299G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.151C>T (p.H51Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000821071" "21" "70" "12" "6442644" "6442644" "subst" "0" "01164" "TNFRSF1A_000044" "g.6442644G>A" "" "PMID: 23894535" "" "" "ACMG: PM1, PM5, PM2_SUP, PP2, PP4" "Germline" "yes" "" "" "" "" "" "" "pathogenic (!)" "ACMG" "0000853497" "0" "30" "12" "6441188" "6441190" "del" "0" "02326" "PLEKHG6_000020" "g.6441188_6441190del" "" "" "" "TNFRSF1A(NM_001065.3):c.551+1066_551+1068delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853498" "0" "30" "12" "6441189" "6441190" "del" "0" "02326" "PLEKHG6_000021" "g.6441189_6441190del" "" "" "" "TNFRSF1A(NM_001065.3):c.551+1067_551+1068delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853499" "0" "30" "12" "6441189" "6441190" "dup" "0" "02326" "PLEKHG6_000022" "g.6441189_6441190dup" "" "" "" "TNFRSF1A(NM_001065.3):c.551+1067_551+1068dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853500" "0" "50" "12" "6443327" "6443327" "subst" "0.000166938" "02325" "TNFRSF1A_000118" "g.6443327A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863101" "0" "30" "12" "6439013" "6439013" "subst" "0.000289375" "01943" "PLEKHG6_000019" "g.6439013C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.988G>A (p.A330T), TNFRSF1A(NM_001346092.1):c.529G>A (p.A177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863102" "0" "30" "12" "6442545" "6442545" "subst" "7.36684E-5" "02326" "PLEKHG6_000023" "g.6442545C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.460G>A (p.V154M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863103" "0" "30" "12" "6443282" "6443282" "subst" "2.44575E-5" "01943" "TNFRSF1A_000109" "g.6443282C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.168G>A (p.S56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890747" "0" "30" "12" "6439013" "6439013" "subst" "0.000289375" "02326" "PLEKHG6_000019" "g.6439013C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.988G>A (p.A330T), TNFRSF1A(NM_001346092.1):c.529G>A (p.A177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930132" "0" "30" "12" "6439088" "6439088" "subst" "0" "02326" "PLEKHG6_000024" "g.6439088G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.913C>G (p.(Pro305Ala), p.P305A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950015" "0" "30" "12" "6439041" "6439041" "subst" "0" "02326" "PLEKHG6_000025" "g.6439041C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.960G>A (p.G320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950016" "0" "50" "12" "6442639" "6442639" "subst" "0" "02327" "PLEKHG6_000011" "g.6442639G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.366C>G (p.D122E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950017" "0" "50" "12" "6442671" "6442671" "subst" "5.28112E-5" "02327" "TNFRSF1A_000049" "g.6442671C>T" "" "" "" "TNFRSF1A(NM_001065.3):c.334G>A (p.V112M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967038" "0" "90" "12" "6442532" "6442532" "subst" "0" "02327" "PLEKHG6_000026" "g.6442532C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967039" "0" "70" "12" "6442643" "6442643" "subst" "4.06266E-6" "02327" "PLEKHG6_000012" "g.6442643C>G" "" "" "" "TNFRSF1A(NM_001065.3):c.362G>C (p.R121P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967040" "0" "30" "12" "6442643" "6442643" "subst" "0.0131955" "02327" "TNFRSF1A_000126" "g.6442643C>T" "" "" "" "TNFRSF1A(NM_001065.4):c.362G>A (p.R121Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980421" "0" "70" "12" "6442673" "6442673" "subst" "0" "02327" "TNFRSF1A_000136" "g.6442673T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000281" "0" "50" "12" "6438575" "6438575" "subst" "0" "02325" "PLEKHG6_000027" "g.6438575A>T" "" "" "" "TNFRSF1A(NM_001065.4):c.1271T>A (p.V424E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000282" "0" "30" "12" "6439088" "6439088" "subst" "0" "01804" "PLEKHG6_000024" "g.6439088G>C" "" "" "" "TNFRSF1A(NM_001065.3):c.913C>G (p.(Pro305Ala), p.P305A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000283" "0" "30" "12" "6439874" "6439874" "subst" "0" "01804" "PLEKHG6_000028" "g.6439874G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.629C>T (p.(Thr210Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015012" "0" "70" "12" "6442644" "6442644" "subst" "0" "02325" "TNFRSF1A_000044" "g.6442644G>A" "" "" "" "TNFRSF1A(NM_001065.3):c.361C>T (p.R121W), TNFRSF1A(NM_001065.4):c.361C>T (p.R121W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039410" "0" "70" "12" "6443327" "6443327" "subst" "0.000166938" "01804" "TNFRSF1A_000118" "g.6443327A>C" "" "" "" "TNFRSF1A(NM_001065.3):c.123T>G (p.D41E), TNFRSF1A(NM_001065.4):c.123T>G (p.(Asp41Glu), p.D41E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes TNFRSF1A ## Count = 182 "{{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}}" "0000236492" "00021547" "50" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312Lys)" "" "0000248235" "00021547" "10" "740" "-9" "740" "-9" "c.740-9T>C" "r.(=)" "p.(=)" "" "0000249176" "00021547" "10" "473" "-33" "473" "-33" "c.473-33T>C" "r.(=)" "p.(=)" "" "0000250843" "00021547" "50" "123" "0" "123" "0" "c.123T>G" "r.(?)" "p.(Asp41Glu)" "" "0000250938" "00021547" "10" "740" "-9" "740" "-9" "c.740-9T>C" "r.(=)" "p.(=)" "" "0000251511" "00021547" "10" "769" "-23" "769" "-23" "c.769-23T>C" "r.(=)" "p.(=)" "" "0000252216" "00021547" "30" "769" "-5" "769" "-5" "c.769-5T>C" "r.spl?" "p.?" "" "0000252217" "00021547" "30" "472" "17" "472" "17" "c.472+17T>C" "r.(=)" "p.(=)" "" "0000252379" "00021547" "70" "422" "0" "422" "0" "c.422T>G" "r.(?)" "p.(Phe141Cys)" "" "0000252380" "00021547" "70" "421" "0" "421" "0" "c.421T>C" "r.(?)" "p.(Phe141Leu)" "" "0000252381" "00021547" "70" "422" "0" "422" "0" "c.422T>C" "r.(?)" "p.(Phe141Ser)" "" "0000252385" "00021547" "70" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Phe89Ser)" "" "0000252467" "00021547" "90" "304" "0" "304" "0" "c.304T>C" "r.(?)" "p.(Cys102Arg)" "" "0000252469" "00021547" "90" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Cys117Arg)" "" "0000252470" "00021547" "90" "375" "0" "375" "0" "c.375T>G" "r.(?)" "p.(Cys125Trp)" "" "0000252471" "00021547" "90" "379" "0" "379" "0" "c.379T>C" "r.(?)" "p.(Cys127Arg)" "" "0000252475" "00021547" "90" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Cys58Gly)" "" "0000252476" "00021547" "90" "172" "0" "172" "0" "c.172T>C" "r.(?)" "p.(Cys58Arg)" "" "0000252477" "00021547" "90" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Cys62Gly)" "" "0000252478" "00021547" "90" "214" "0" "214" "0" "c.214T>C" "r.(?)" "p.(Cys72Arg)" "" "0000252479" "00021547" "90" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Cys81Arg)" "" "0000252480" "00021547" "90" "250" "0" "250" "0" "c.250T>C" "r.(?)" "p.(Cys84Arg)" "" "0000252481" "00021547" "90" "295" "0" "295" "0" "c.295T>G" "r.(?)" "p.(Cys99Gly)" "" "0000252482" "00021547" "90" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "" "0000252483" "00021547" "90" "295" "0" "295" "0" "c.295T>A" "r.(?)" "p.(Cys99Ser)" "" "0000252489" "00021547" "90" "421" "0" "421" "0" "c.421T>A" "r.(?)" "p.(Phe141Ile)" "" "0000252500" "00021547" "90" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Phe89Leu)" "" "0000252501" "00021547" "90" "265" "0" "265" "0" "c.265T>G" "r.(?)" "p.(Phe89Val)" "" "0000252515" "00021547" "90" "596" "0" "596" "0" "c.596T>A" "r.(?)" "p.(Ile199Asn)" "" "0000252549" "00021547" "90" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Leu96Pro)" "" "0000252568" "00021547" "90" "343" "0" "343" "0" "c.343T>C" "r.(?)" "p.(Ser115Pro)" "" "0000252584" "00021547" "90" "605" "0" "605" "0" "c.605T>A" "r.(?)" "p.(Val202Asp)" "" "0000252602" "00021547" "90" "145" "0" "145" "0" "c.145T>G" "r.(?)" "p.(Tyr49Asp)" "" "0000252603" "00021547" "90" "145" "0" "145" "0" "c.145T>C" "r.(?)" "p.(Tyr49His)" "" "0000252699" "00021547" "50" "170" "0" "170" "0" "c.170T>G" "r.(?)" "p.(Ile57Ser)" "" "0000252784" "00021547" "50" "59" "0" "59" "0" "c.59T>C" "r.(?)" "p.(Val20Ala)" "" "0000255785" "00021547" "50" "123" "0" "123" "0" "c.123T>G" "r.(?)" "p.(Asp41Glu)" "" "0000311918" "00021547" "10" "36" "0" "36" "0" "c.36A>G" "r.(?)" "p.(Pro12=)" "" "0000311919" "00021547" "10" "625" "10" "625" "10" "c.625+10A>G" "r.(=)" "p.(=)" "" "0000314628" "00021547" "30" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Leu359=)" "" "0000314629" "00021547" "50" "1080" "0" "1080" "0" "c.1080C>G" "r.(?)" "p.(Tyr360Ter)" "" "0000314630" "00021547" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Arg370=)" "" "0000314631" "00021547" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Cys44Tyr)" "" "0000314632" "00021547" "70" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Tyr49Cys)" "" "0000314633" "00021547" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(His51Tyr)" "" "0000314634" "00021547" "70" "152" "0" "152" "0" "c.152A>G" "r.(?)" "p.(His51Arg)" "" "0000314635" "00021547" "50" "153" "0" "153" "0" "c.153C>G" "r.(?)" "p.(His51Gln)" "" "0000314636" "00021547" "10" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Thr5=)" "" "0000314637" "00021547" "50" "160" "0" "160" "0" "c.160A>G" "r.(?)" "p.(Asn54Asp)" "" "0000314638" "00021547" "30" "168" "0" "168" "0" "c.168G>A" "r.(?)" "p.(Ser56=)" "" "0000314639" "00021547" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Cys58Tyr)" "" "0000314640" "00021547" "90" "173" "0" "173" "0" "c.173G>C" "r.(?)" "p.(Cys58Ser)" "" "0000314641" "00021547" "90" "176" "0" "176" "0" "c.176G>C" "r.(?)" "p.(Cys59Ser)" "" "0000314642" "00021547" "90" "176" "0" "176" "0" "c.176G>T" "r.(?)" "p.(Cys59Phe)" "" "0000314643" "00021547" "90" "185" "0" "185" "0" "c.185G>A" "r.(?)" "p.(Cys62Tyr)" "" "0000314644" "00021547" "90" "194" "-14" "194" "-14" "c.194-14G>A" "r.(=)" "p.(=)" "" "0000314645" "00021547" "30" "194" "-15" "194" "-15" "c.194-15C>T" "r.(=)" "p.(=)" "" "0000314646" "00021547" "30" "194" "-29" "194" "-29" "c.194-29G>A" "r.(=)" "p.(=)" "" "0000314647" "00021547" "30" "194" "-80" "194" "-80" "c.194-80C>T" "r.(=)" "p.(=)" "" "0000314648" "00021547" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Gly65Glu)" "" "0000314649" "00021547" "50" "197" "0" "197" "0" "c.197C>T" "r.(?)" "p.(Thr66Ile)" "" "0000314650" "00021547" "70" "200" "0" "200" "0" "c.200A>C" "r.(?)" "p.(Tyr67Ser)" "" "0000314651" "00021547" "90" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Tyr67Cys)" "" "0000314652" "00021547" "70" "204" "0" "204" "0" "c.204G>C" "r.(?)" "p.(Leu68Phe)" "" "0000314653" "00021547" "90" "211" "0" "213" "0" "c.211_213del" "r.(?)" "p.(Asp71del)" "" "0000314654" "00021547" "50" "213" "0" "213" "0" "c.213C>A" "r.(?)" "p.(Asp71Glu)" "" "0000314655" "00021547" "90" "215" "0" "215" "0" "c.215G>A" "r.(?)" "p.(Cys72Tyr)" "" "0000314656" "00021547" "90" "215" "0" "215" "0" "c.215G>C" "r.(?)" "p.(Cys72Ser)" "" "0000314657" "00021547" "30" "224" "0" "224" "0" "c.224C>T" "r.(?)" "p.(Pro75Leu)" "" "0000314658" "00021547" "30" "228" "0" "228" "0" "c.228G>A" "r.(?)" "p.(Gly76=)" "" "0000314659" "00021547" "90" "236" "0" "236" "0" "c.236C>T" "r.(?)" "p.(Thr79Met)" "" "0000314660" "00021547" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Cys81Tyr)" "" "0000314661" "00021547" "90" "242" "0" "242" "0" "c.242G>C" "r.(?)" "p.(Cys81Ser)" "" "0000314662" "00021547" "90" "242" "0" "242" "0" "c.242G>T" "r.(?)" "p.(Cys81Phe)" "" "0000314663" "00021547" "90" "243" "0" "243" "0" "c.243C>G" "r.(?)" "p.(Cys81Trp)" "" "0000314664" "00021547" "50" "244" "0" "244" "0" "c.244A>G" "r.(?)" "p.(Arg82Gly)" "" "0000314665" "00021547" "30" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Glu83=)" "" "0000314666" "00021547" "90" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Cys84Tyr)" "" "0000314667" "00021547" "90" "251" "0" "251" "0" "c.251G>C" "r.(?)" "p.(Cys84Ser)" "" "0000314668" "00021547" "90" "255" "0" "278" "0" "c.255_278del" "r.(?)" "p.(Ser86_Glu93del)" "" "0000314669" "00021547" "70" "255" "0" "255" "0" "c.255G>C" "r.(?)" "p.(Glu85Asp)" "" "0000314670" "00021547" "50" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Gly87Ser)" "" "0000314671" "00021547" "90" "269" "0" "269" "0" "c.269C>A" "r.(?)" "p.(Thr90Asn)" "" "0000314672" "00021547" "90" "281" "0" "281" "0" "c.281A>T" "r.(?)" "p.(Asn94Ile)" "" "0000314673" "00021547" "70" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(His95Tyr)" "" "0000314674" "00021547" "70" "284" "0" "284" "0" "c.284A>C" "r.(?)" "p.(His95Pro)" "" "0000314675" "00021547" "70" "284" "0" "284" "0" "c.284A>T" "r.(?)" "p.(His95Leu)" "" "0000314676" "00021547" "90" "293" "0" "295" "0" "c.293_295del" "r.(?)" "p.(His98_Cys99delinsArg)" "" "0000314677" "00021547" "90" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Cys99Tyr)" "" "0000314678" "00021547" "90" "306" "0" "306" "0" "c.306C>G" "r.(?)" "p.(Cys102Trp)" "" "0000314679" "00021547" "70" "308" "0" "308" "0" "c.308C>G" "r.(?)" "p.(Ser103Cys)" "" "0000314680" "00021547" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Cys105Tyr)" "" "0000314681" "00021547" "30" "323" "-32" "323" "-32" "c.323-32A>G" "r.(=)" "p.(=)" "" "0000314682" "00021547" "50" "331" "0" "331" "0" "c.331C>A" "r.(?)" "p.(Gln111Lys)" "" "0000314683" "00021547" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Met)" "" "0000314684" "00021547" "50" "334" "0" "334" "0" "c.334G>T" "r.(?)" "p.(Val112Leu)" "" "0000314685" "00021547" "90" "350" "0" "351" "0" "c.350_351delinsCA" "r.(?)" "p.(Cys117Ser)" "" "0000314686" "00021547" "90" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Cys117Tyr)" "" "0000314687" "00021547" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000314688" "00021547" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Thr123=)" "" "0000314689" "00021547" "10" "36" "0" "36" "0" "c.36A>G" "r.(?)" "p.(Pro12=)" "" "0000314690" "00021547" "50" "370" "0" "370" "0" "c.370G>A" "r.(?)" "p.(Val124Met)" "" "0000314691" "00021547" "90" "374" "0" "374" "0" "c.374G>A" "r.(?)" "p.(Cys125Tyr)" "" "0000314692" "00021547" "90" "374" "0" "374" "0" "c.374G>T" "r.(?)" "p.(Cys125Phe)" "" "0000314693" "00021547" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Cys127Tyr)" "" "0000314694" "00021547" "30" "39" "97" "39" "97" "c.39+97G>A" "r.(=)" "p.(=)" "" "0000314695" "00021547" "50" "390" "0" "390" "0" "c.390C>G" "r.(?)" "p.(Asn130Lys)" "" "0000314696" "00021547" "70" "394" "0" "399" "0" "c.394_399del" "r.(?)" "p.(Tyr132_Arg133del)" "" "0000314697" "00021547" "50" "397" "0" "397" "0" "c.397C>T" "r.(?)" "p.(Arg133Trp)" "" "0000314698" "00021547" "50" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Arg133Gln)" "" "0000314699" "00021547" "10" "40" "-3367" "40" "-3367" "c.40-3367C>T" "r.(=)" "p.(=)" "" "0000314700" "00021547" "30" "40" "-981" "40" "-981" "c.40-981C>T" "r.(=)" "p.(=)" "" "0000314701" "00021547" "50" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(His134Pro)" "" "0000314702" "00021547" "50" "413" "0" "413" "0" "c.413A>C" "r.(?)" "p.(Glu138Ala)" "" "0000314703" "00021547" "30" "434" "0" "434" "0" "c.434A>G" "r.(?)" "p.(Asn145Ser)" "" "0000314704" "00021547" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Thr153=)" "" "0000314705" "00021547" "90" "472" "1" "472" "1" "c.472+1G>A" "r.spl?" "p.?" "" "0000314706" "00021547" "30" "472" "64" "472" "64" "c.472+64C>T" "r.(=)" "p.(=)" "" "0000314707" "00021547" "10" "472" "6" "472" "6" "c.472+6C>T" "r.(=)" "p.(=)" "" "0000314708" "00021547" "30" "473" "-16" "473" "-16" "c.473-16G>A" "r.(=)" "p.(=)" "" "0000314709" "00021547" "10" "473" "-72" "473" "-72" "c.473-72G>A" "r.(=)" "p.(=)" "" "0000314710" "00021547" "30" "552" "-89" "552" "-89" "c.552-89A>T" "r.(=)" "p.(=)" "" "0000314711" "00021547" "30" "558" "0" "558" "0" "c.558G>A" "r.(?)" "p.(Lys186=)" "" "0000314712" "00021547" "10" "625" "10" "625" "10" "c.625+10A>G" "r.(=)" "p.(=)" "" "0000314713" "00021547" "30" "625" "53" "625" "53" "c.625+53C>T" "r.(=)" "p.(=)" "" "0000314714" "00021547" "10" "626" "-32" "626" "-32" "c.626-32G>T" "r.(=)" "p.(=)" "" "0000314715" "00021547" "10" "626" "-33" "626" "-33" "c.626-33C>T" "r.(=)" "p.(=)" "" "0000314716" "00021547" "50" "677" "0" "677" "0" "c.677C>G" "r.(?)" "p.(Ser226Cys)" "" "0000314717" "00021547" "30" "768" "42" "768" "42" "c.768+42del" "r.(=)" "p.(=)" "" "0000314718" "00021547" "30" "935" "0" "935" "0" "c.935G>A" "r.(?)" "p.(Arg312Lys)" "" "0000316807" "00021547" "30" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Leu359=)" "" "0000316808" "00021547" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Arg370=)" "" "0000405064" "00021547" "00" "625" "10" "625" "10" "c.625+10A>G" "r.(=)" "p.(=)" "" "0000405988" "00021547" "30" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000548938" "00021547" "30" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(Glu419=)" "" "0000548939" "00021547" "30" "678" "0" "678" "0" "c.678C>G" "r.(?)" "p.(Ser226=)" "" "0000548940" "00021547" "70" "586" "0" "612" "0" "c.586_612del" "r.(?)" "p.(Leu196_Gly204del)" "" "0000548941" "00021547" "90" "427" "0" "427" "0" "c.427T>C" "r.(?)" "p.(Cys143Arg)" "" "0000548942" "00021547" "50" "404" "0" "404" "0" "c.404A>G" "r.(?)" "p.(Tyr135Cys)" "" "0000548943" "00021547" "50" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Asp122Glu)" "" "0000548944" "00021547" "50" "362" "0" "362" "0" "c.362G>C" "r.(?)" "p.(Arg121Pro)" "" "0000548945" "00021547" "50" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000548947" "00021547" "70" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Thr118Ala)" "" "0000548948" "00021547" "30" "323" "-19" "323" "-19" "c.323-19C>T" "r.(=)" "p.(=)" "" "0000548949" "00021547" "70" "282" "0" "282" "0" "c.282C>G" "r.(?)" "p.(Asn94Lys)" "" "0000548950" "00021547" "90" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Phe89Leu)" "" "0000548951" "00021547" "90" "262" "0" "262" "0" "c.262T>C" "r.(?)" "p.(Ser88Pro)" "" "0000548952" "00021547" "90" "215" "0" "215" "0" "c.215G>T" "r.(?)" "p.(Cys72Phe)" "" "0000548953" "00021547" "30" "194" "-18" "194" "-17" "c.194-18_194-17del" "r.(=)" "p.(=)" "" "0000548954" "00021547" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Cys59Tyr)" "" "0000548955" "00021547" "90" "175" "0" "175" "0" "c.175T>C" "r.(?)" "p.(Cys59Arg)" "" "0000548956" "00021547" "90" "173" "0" "173" "0" "c.173G>T" "r.(?)" "p.(Cys58Phe)" "" "0000614354" "00021547" "30" "1038" "0" "1038" "0" "c.1038C>G" "r.(?)" "p.(His346Gln)" "" "0000614355" "00021547" "30" "672" "0" "672" "0" "c.672T>C" "r.(?)" "p.(Leu224=)" "" "0000691403" "00021547" "30" "1367" "0" "1367" "0" "c.1367G>A" "r.(?)" "p.(Ter456=)" "" "0000691404" "00021547" "10" "551" "1068" "551" "1068" "c.551+1068dup" "r.(=)" "p.(=)" "" "0000724196" "00021547" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Thr123=)" "" "0000724197" "00021547" "50" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Glu83=)" "" "0000805905" "00021547" "30" "1038" "0" "1038" "0" "c.1038C>G" "r.(?)" "p.(His346Gln)" "" "0000805906" "00021547" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(His51Tyr)" "" "0000821071" "00021547" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000853497" "00021547" "30" "551" "1066" "551" "1068" "c.551+1066_551+1068del" "r.(=)" "p.(=)" "" "0000853498" "00021547" "30" "551" "1067" "551" "1068" "c.551+1067_551+1068del" "r.(=)" "p.(=)" "" "0000853499" "00021547" "30" "551" "1067" "551" "1068" "c.551+1067_551+1068dup" "r.(=)" "p.(=)" "" "0000853500" "00021547" "50" "123" "0" "123" "0" "c.123T>G" "r.(?)" "p.(Asp41Glu)" "" "0000863101" "00021547" "30" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Ala330Thr)" "" "0000863102" "00021547" "30" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Met)" "" "0000863103" "00021547" "30" "168" "0" "168" "0" "c.168G>A" "r.(?)" "p.(Ser56=)" "" "0000890747" "00021547" "30" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Ala330Thr)" "" "0000930132" "00021547" "30" "913" "0" "913" "0" "c.913C>G" "r.(?)" "p.(Pro305Ala)" "" "0000950015" "00021547" "30" "960" "0" "960" "0" "c.960G>A" "r.(?)" "p.(=)" "" "0000950016" "00021547" "50" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Asp122Glu)" "" "0000950017" "00021547" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Val112Met)" "" "0000967038" "00021547" "90" "472" "1" "472" "1" "c.472+1G>C" "r.spl?" "p.?" "" "0000967039" "00021547" "70" "362" "0" "362" "0" "c.362G>C" "r.(?)" "p.(Arg121Pro)" "" "0000967040" "00021547" "30" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000980421" "00021547" "70" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Gln111Arg)" "" "0001000281" "00021547" "50" "1271" "0" "1271" "0" "c.1271T>A" "r.(?)" "p.(Val424Glu)" "" "0001000282" "00021547" "30" "913" "0" "913" "0" "c.913C>G" "r.(?)" "p.(Pro305Ala)" "" "0001000283" "00021547" "30" "629" "0" "629" "0" "c.629C>T" "r.(?)" "p.(Thr210Ile)" "" "0001015012" "00021547" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0001039410" "00021547" "70" "123" "0" "123" "0" "c.123T>G" "r.(?)" "p.(Asp41Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000145379" "0000236492" "0000181368" "0000405064" "0000182152" "0000405988" "0000391322" "0000821071"