### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TLR4) # 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}}" "TLR4" "toll-like receptor 4" "9" "q33.1" "unknown" "LRG_320" "UD_134408381797" "" "https://www.LOVD.nl/TLR4" "" "1" "11850" "7099" "603030" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TLR4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-08 10:19:41" "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}}" "00021187" "TLR4" "transcript variant 1" "002" "NM_138554.4" "" "NP_612564.1" "" "" "" "-298" "5363" "2520" "120466453" "120479769" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02963" "HAE3" "angioedema, hereditary, type 3" "AD" "610618" "" "" "" "00006" "2014-09-25 23:29:40" "03256" "2025-04-09 18:11:52" "03031" "ARMD10" "macular degeneration, age-related, type 10 (ARMD-10)" "" "611488" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TLR4" "00091" "TLR4" "03031" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00103999" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-112A" "00334287" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334305" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334352" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334365" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334367" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334370" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334381" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334387" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334393" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334400" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334402" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334524" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334525" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334535" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334844" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334852" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334870" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334876" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334931" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335032" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335035" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00359618" "" "" "" "2" "" "03256" "{DOI:Loules 2020:10.3390/jcm911340}" "" "F" "" "Hungary" "" "0" "" "" "" "" "00382795" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" "" "00438261" "" "" "" "1" "" "04584" "" "analysis patient with severe acute pancreatitis (SAP)" "F" "" "China" "" "0" "" "" "Asian" "202" "00438262" "" "" "" "1" "" "04584" "" "analysis patients with severe acute pancreatitis (SAP)" "F" "" "China" "" "0" "" "" "Asian" "122" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00103999" "03381" "00334287" "05793" "00334305" "05793" "00334352" "05793" "00334365" "05793" "00334367" "05793" "00334370" "05793" "00334381" "05793" "00334387" "05793" "00334393" "05793" "00334400" "05793" "00334402" "05793" "00334524" "05793" "00334525" "05793" "00334535" "05793" "00334844" "05793" "00334852" "05793" "00334870" "05793" "00334876" "05793" "00334931" "05793" "00335032" "05793" "00335035" "05793" "00359618" "02963" "00382795" "04214" "00438261" "00198" "00438262" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 02963, 03031, 03381, 04214, 05793 ## Count = 26 "{{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/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081933" "03381" "00103999" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000253097" "05793" "00334287" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253115" "05793" "00334305" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253147" "05793" "00334352" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253160" "05793" "00334365" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253162" "05793" "00334367" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253165" "05793" "00334370" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253173" "05793" "00334381" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253174" "05793" "00334387" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253176" "05793" "00334393" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253183" "05793" "00334400" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253185" "05793" "00334402" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253218" "05793" "00334524" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253219" "05793" "00334525" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253225" "05793" "00334535" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253241" "05793" "00334844" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253249" "05793" "00334852" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253265" "05793" "00334870" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253269" "05793" "00334876" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253279" "05793" "00334931" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253314" "05793" "00335032" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253317" "05793" "00335035" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000254891" "02963" "00359618" "03256" "Familial" "" "Proband presenting with a HAE with normal C1 inhibitor and non identified type" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000276651" "04214" "00382795" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000328165" "00198" "00438261" "04584" "Unknown" "37y08m" "severe acute pancreatitis" "" "37y08m" "" "" "" "" "" "" "" "" "" "" "severe acute pancreatitis" "" "0000328166" "00198" "00438262" "04584" "Isolated (sporadic)" "37y" "severe acute pancreatitis" "" "37y" "" "" "" "" "" "" "" "" "" "" "severe acute pancreatitis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104470" "00103999" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000335513" "00334287" "1" "04011" "04011" "2021-02-27 03:17:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335533" "00334305" "1" "04011" "04011" "2021-02-27 06:52:27" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335580" "00334352" "1" "04011" "04011" "2021-02-28 03:57:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335593" "00334365" "1" "04011" "04011" "2021-02-28 06:05:21" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335595" "00334367" "1" "04011" "04011" "2021-02-28 08:34:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335598" "00334370" "1" "04011" "04011" "2021-02-28 08:48:16" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335609" "00334381" "1" "04011" "04011" "2021-02-28 11:07:27" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335616" "00334387" "1" "04011" "04011" "2021-02-28 11:38:34" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335622" "00334393" "1" "04011" "04011" "2021-02-28 12:02:48" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335629" "00334400" "1" "04011" "04011" "2021-02-28 13:00:36" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335631" "00334402" "1" "04011" "04011" "2021-02-28 13:41:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335753" "00334524" "1" "04011" "04011" "2021-03-01 11:10:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335754" "00334525" "1" "04011" "04011" "2021-03-01 11:22:02" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335764" "00334535" "1" "04011" "04011" "2021-03-01 12:52:18" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336073" "00334844" "1" "04011" "04011" "2021-03-02 02:01:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336081" "00334852" "1" "04011" "04011" "2021-03-02 04:46:23" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336099" "00334870" "1" "04011" "04011" "2021-03-02 09:24:26" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336105" "00334876" "1" "04011" "04011" "2021-03-02 09:44:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336161" "00334931" "1" "04011" "04011" "2021-03-02 13:43:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336261" "00335032" "1" "04011" "04011" "2021-03-03 04:48:53" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336264" "00335035" "1" "04011" "04011" "2021-03-03 05:23:36" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000360848" "00359618" "1" "03256" "03256" "2021-04-02 10:26:50" "" "" "SEQ-NG-IT" "DNA" "blood" "" "0000384011" "00382795" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000439742" "00438261" "1" "04584" "04584" "2023-10-20 03:15:16" "" "" "SEQ" "DNA" "blood" "" "0000439743" "00438262" "1" "04584" "04584" "2023-10-20 03:51:01" "" "" "SEQ" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000360848" "SERPING1" "0000384011" "TLR4" "0000439742" "TLR4" "0000439743" "TLR4" ## 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 = 63 "{{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}}" "0000169288" "0" "70" "9" "120466779" "120466784" "del" "0" "00587" "TLR4_000001" "g.120466779_120466784del" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_138554.4(TLR4):c.29_34del p.(Thr10_Leu11del)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.117704501_117704506del" "" "likely pathogenic" "" "0000251826" "0" "30" "9" "120475302" "120475302" "subst" "0.0608783" "02326" "TLR4_000004" "g.120475302A>G" "" "" "" "TLR4(NM_003266.4):c.776A>G (p.D259G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117713024A>G" "" "likely benign" "" "0000314527" "0" "30" "9" "120475602" "120475602" "subst" "0.0570977" "02326" "TLR4_000006" "g.120475602C>T" "" "" "" "TLR4(NM_003266.4):c.1076C>T (p.T359I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117713324C>T" "" "likely benign" "" "0000316645" "0" "30" "9" "120474676" "120474676" "subst" "0" "01943" "TLR4_000002" "g.120474676C>A" "" "" "" "TLR4(NM_003266.3):c.150C>A (p.I50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117712398C>A" "" "likely benign" "" "0000316646" "0" "50" "9" "120476357" "120476357" "subst" "0.000122141" "01943" "TLR4_000007" "g.120476357G>T" "" "" "" "TLR4(NM_003266.3):c.1831G>T (p.V611F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117714079G>T" "" "VUS" "" "0000332767" "0" "30" "9" "120475095" "120475095" "subst" "0" "01804" "TLR4_000003" "g.120475095A>G" "" "" "" "TLR4(NM_003266.3):c.569A>G (p.(Lys190Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117712817A>G" "" "likely benign" "" "0000536146" "0" "30" "9" "120470884" "120470884" "subst" "0.00241094" "01943" "TLR4_000008" "g.120470884A>G" "" "" "" "TLR4(NM_003266.3):c.17A>G (p.Y6C), TLR4(NM_003266.4):c.17A>G (p.Y6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117708606A>G" "" "likely benign" "" "0000536147" "0" "50" "9" "120470884" "120470884" "subst" "0.00241094" "02325" "TLR4_000008" "g.120470884A>G" "" "" "" "TLR4(NM_003266.3):c.17A>G (p.Y6C), TLR4(NM_003266.4):c.17A>G (p.Y6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117708606A>G" "" "VUS" "" "0000536148" "0" "50" "9" "120474891" "120474891" "subst" "0.000199611" "01943" "TLR4_000009" "g.120474891T>C" "" "" "" "TLR4(NM_003266.3):c.365T>C (p.I122T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117712613T>C" "" "VUS" "" "0000611831" "0" "30" "9" "120476694" "120476694" "subst" "0.00118558" "01943" "TLR4_000010" "g.120476694G>A" "" "" "" "TLR4(NM_003266.3):c.2168G>A (p.R723H), TLR4(NM_138554.3):c.2288G>A (p.R763H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117714416G>A" "" "likely benign" "" "0000656209" "0" "50" "9" "120466793" "120466793" "subst" "0" "02326" "TLR4_000011" "g.120466793A>G" "" "" "" "TLR4(NM_138554.3):c.43A>G (p.M15V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117704515A>G" "" "VUS" "" "0000656210" "0" "30" "9" "120470884" "120470884" "subst" "0.00241094" "02326" "TLR4_000008" "g.120470884A>G" "" "" "" "TLR4(NM_003266.3):c.17A>G (p.Y6C), TLR4(NM_003266.4):c.17A>G (p.Y6C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117708606A>G" "" "likely benign" "" "0000678515" "0" "30" "9" "120475488" "120475488" "subst" "4.08771E-6" "01943" "TLR4_000012" "g.120475488A>G" "" "" "" "TLR4(NM_003266.3):c.962A>G (p.N321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690388" "0" "30" "9" "120475735" "120475735" "subst" "0.00133791" "01943" "TLR4_000013" "g.120475735C>T" "" "" "" "TLR4(NM_003266.3):c.1209C>T (p.F403=), TLR4(NM_138554.3):c.1329C>T (p.F443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690389" "0" "50" "9" "120476185" "120476185" "subst" "5.29588E-5" "01943" "TLR4_000014" "g.120476185G>A" "" "" "" "TLR4(NM_003266.3):c.1659G>A (p.W553*), TLR4(NM_138554.5):c.1779G>A (p.W593*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690390" "0" "50" "9" "120476788" "120476788" "subst" "0" "01943" "TLR4_000015" "g.120476788C>A" "" "" "" "TLR4(NM_003266.3):c.2262C>A (p.Y754*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690391" "0" "30" "9" "120476906" "120476906" "subst" "0.000823221" "01943" "TLR4_000016" "g.120476906C>A" "" "" "" "TLR4(NM_003266.3):c.2380C>A (p.Q794K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722232" "0" "30" "9" "120474673" "120474673" "subst" "3.26286E-5" "02326" "TLR4_000017" "g.120474673A>G" "" "" "" "TLR4(NM_003266.4):c.147A>G (p.E49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722233" "0" "30" "9" "120475308" "120475308" "subst" "4.88468E-5" "01943" "TLR4_000018" "g.120475308T>C" "" "" "" "TLR4(NM_003266.3):c.782T>C (p.I261T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722234" "0" "50" "9" "120475487" "120475487" "subst" "5.72293E-5" "02325" "TLR4_000019" "g.120475487A>G" "" "" "" "TLR4(NM_138554.5):c.1081A>G (p.N361D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722235" "0" "30" "9" "120476863" "120476863" "subst" "0.000187884" "02326" "TLR4_000020" "g.120476863A>G" "" "" "" "TLR4(NM_003266.4):c.2337A>G (p.K779=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733935" "0" "70" "9" "120474819" "120474819" "subst" "7.32577E-5" "04011" "TLR4_000022" "g.120474819T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734009" "0" "70" "9" "120474819" "120474819" "subst" "7.32577E-5" "04011" "TLR4_000022" "g.120474819T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734156" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734190" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734201" "0" "70" "9" "120476597" "120476597" "subst" "5.40024E-5" "04011" "TLR4_000024" "g.120476597C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734215" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734259" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734272" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734284" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734302" "0" "70" "9" "120476549" "120476549" "subst" "0.00010441" "04011" "TLR4_000023" "g.120476549G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734308" "0" "70" "9" "120476846" "120476846" "subst" "0.000101974" "04011" "TLR4_000025" "g.120476846G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734575" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734584" "0" "70" "9" "120474819" "120474819" "subst" "7.32577E-5" "04011" "TLR4_000022" "g.120474819T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734616" "0" "70" "9" "120476465" "120476465" "subst" "0" "04011" "TLR4_000027" "g.120476465T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734994" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735054" "0" "70" "9" "120474683" "120474683" "subst" "0.000403476" "04011" "TLR4_000026" "g.120474683A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735120" "0" "70" "9" "120476465" "120476465" "subst" "0" "04011" "TLR4_000027" "g.120476465T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735142" "0" "70" "9" "120476465" "120476465" "subst" "0" "04011" "TLR4_000027" "g.120476465T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735281" "0" "70" "9" "120476873" "120476873" "subst" "0.000159517" "04011" "TLR4_000028" "g.120476873C>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735494" "0" "70" "9" "120474819" "120474819" "subst" "7.32577E-5" "04011" "TLR4_000022" "g.120474819T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735507" "0" "70" "9" "120470966" "120470966" "subst" "0.00120351" "04011" "TLR4_000021" "g.120470966C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000763332" "0" "50" "9" "120475248" "120475248" "subst" "0.00228766" "03256" "TLR4_000029" "g.120475248G>A" "0.00208 (ExAC); 0.00220 (gnomAD); 0.00284 (TOPMed)" "{DOI:Loules 2021:10.3390/jcm9113402}" "" "" "nlC1-INH-HAE association. Variant c.842G>A has been found combined with other alleles, as follows BDKRB1, c.844C>T; CPN1, c.1219G>A;p.(Glu407Lys); SERPING1, c.*57C>G; PLAUR, c.2039T>C;p.(Met268Val); MASP1, c.2039T>C;p.(Val680Ala); MPO, c.1571G>A;p.(Arg524His)" "Germline" "yes" "rs137853920" "0" "" "" "g.117712970G>A" "{CV:VCV000100604.1}" "VUS" "" "0000798432" "0" "70" "9" "120475248" "120475248" "subst" "0.00228766" "00000" "TLR4_000029" "g.120475248G>A" "" "{PMID:Song-2011:22025579}" "" "c.842G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000803847" "0" "30" "9" "120475298" "120475298" "subst" "4.47821E-5" "01943" "TLR4_000030" "g.120475298G>A" "" "" "" "TLR4(NM_003266.3):c.772G>A (p.D258N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803848" "0" "50" "9" "120476185" "120476185" "subst" "5.29588E-5" "02325" "TLR4_000014" "g.120476185G>A" "" "" "" "TLR4(NM_003266.3):c.1659G>A (p.W553*), TLR4(NM_138554.5):c.1779G>A (p.W593*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803849" "0" "30" "9" "120476694" "120476694" "subst" "0.00118558" "02326" "TLR4_000010" "g.120476694G>A" "" "" "" "TLR4(NM_003266.3):c.2168G>A (p.R723H), TLR4(NM_138554.3):c.2288G>A (p.R763H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852078" "0" "50" "9" "120475248" "120475248" "subst" "0.00228766" "02326" "TLR4_000029" "g.120475248G>A" "" "" "" "TLR4(NM_138554.3):c.842G>A (p.C281Y), TLR4(NM_138554.5):c.842G>A (p.C281Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852079" "0" "50" "9" "120476016" "120476016" "subst" "5.69657E-5" "01943" "TLR4_000032" "g.120476016C>T" "" "" "" "TLR4(NM_003266.3):c.1490C>T (p.T497M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852080" "0" "50" "9" "120476570" "120476570" "subst" "0.000226366" "02325" "TLR4_000033" "g.120476570A>G" "" "" "" "TLR4(NM_138554.5):c.2164A>G (p.I722V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861366" "0" "50" "9" "120474969" "120474969" "subst" "0.000122229" "01943" "TLR4_000031" "g.120474969A>G" "" "" "" "TLR4(NM_003266.3):c.443A>G (p.Q148R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888584" "0" "50" "9" "120475248" "120475248" "subst" "0.00228766" "02325" "TLR4_000029" "g.120475248G>A" "" "" "" "TLR4(NM_138554.3):c.842G>A (p.C281Y), TLR4(NM_138554.5):c.842G>A (p.C281Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888585" "0" "30" "9" "120475468" "120475468" "subst" "0.00363902" "02326" "TLR4_000034" "g.120475468A>G" "" "" "" "TLR4(NM_138554.3):c.1062A>G (p.K354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924952" "0" "30" "9" "120476817" "120476817" "subst" "0.000701091" "02326" "TLR4_000035" "g.120476817G>A" "" "" "" "TLR4(NM_138554.3):c.2411G>A (p.R804Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929508" "0" "30" "9" "120475735" "120475735" "subst" "0.00133791" "02326" "TLR4_000013" "g.120475735C>T" "" "" "" "TLR4(NM_003266.3):c.1209C>T (p.F403=), TLR4(NM_138554.3):c.1329C>T (p.F443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929509" "0" "30" "9" "120476145" "120476145" "subst" "0" "02326" "TLR4_000036" "g.120476145A>C" "" "" "" "TLR4(NM_138554.3):c.1739A>C (p.D580A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929510" "0" "30" "9" "120476816" "120476816" "subst" "0.000146728" "02326" "TLR4_000037" "g.120476816C>T" "" "" "" "TLR4(NM_138554.3):c.2410C>T (p.R804W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000935647" "3" "70" "9" "120476653" "120476653" "subst" "0" "04584" "TLR4_000039" "g.120476653T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.117714375T>A" "" "likely benign" "" "0000935648" "3" "70" "9" "120476693" "120476693" "subst" "2.03736E-5" "04584" "TLR4_000038" "g.120476693C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.117714415C>T" "" "likely pathogenic" "" "0000949174" "0" "10" "9" "120475936" "120475936" "subst" "0.00196516" "02326" "TLR4_000040" "g.120475936G>T" "" "" "" "TLR4(NM_138554.3):c.1530G>T (p.Q510H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025574" "0" "50" "9" "120475176" "120475176" "subst" "2.44236E-5" "02325" "TLR4_000041" "g.120475176G>A" "" "" "" "TLR4(NM_138554.5):c.770G>A (p.R257H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037156" "0" "50" "9" "120475087" "120475087" "del" "0" "01804" "TLR4_000042" "g.120475087del" "" "" "" "TLR4(NM_138554.5):c.681del (p.(Arg227Serfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037157" "0" "30" "9" "120476382" "120476382" "subst" "8.1414E-5" "01804" "TLR4_000043" "g.120476382T>C" "" "" "" "TLR4(NM_138554.5):c.1976T>C (p.(Met659Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 TLR4 ## Count = 63 "{{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}}" "0000169288" "00021187" "00" "29" "0" "34" "0" "c.29_34del" "r.(?)" "p.(Thr10_Leu11del)" "" "0000251826" "00021187" "30" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Asp299Gly)" "" "0000314527" "00021187" "30" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Thr399Ile)" "" "0000316645" "00021187" "30" "270" "0" "270" "0" "c.270C>A" "r.(?)" "p.(Ile90=)" "" "0000316646" "00021187" "50" "1951" "0" "1951" "0" "c.1951G>T" "r.(?)" "p.(Val651Phe)" "" "0000332767" "00021187" "30" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Lys230Arg)" "" "0000536146" "00021187" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0000536147" "00021187" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0000536148" "00021187" "50" "485" "0" "485" "0" "c.485T>C" "r.(?)" "p.(Ile162Thr)" "" "0000611831" "00021187" "30" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Arg763His)" "" "0000656209" "00021187" "50" "43" "0" "43" "0" "c.43A>G" "r.(?)" "p.(Met15Val)" "" "0000656210" "00021187" "30" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" "" "0000678515" "00021187" "30" "1082" "0" "1082" "0" "c.1082A>G" "r.(?)" "p.(Asn361Ser)" "" "0000690388" "00021187" "30" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(Phe443=)" "" "0000690389" "00021187" "50" "1779" "0" "1779" "0" "c.1779G>A" "r.(?)" "p.(Trp593Ter)" "" "0000690390" "00021187" "50" "2382" "0" "2382" "0" "c.2382C>A" "r.(?)" "p.(Tyr794Ter)" "" "0000690391" "00021187" "30" "2500" "0" "2500" "0" "c.2500C>A" "r.(?)" "p.(Gln834Lys)" "" "0000722232" "00021187" "30" "267" "0" "267" "0" "c.267A>G" "r.(?)" "p.(Glu89=)" "" "0000722233" "00021187" "30" "902" "0" "902" "0" "c.902T>C" "r.(?)" "p.(Ile301Thr)" "" "0000722234" "00021187" "50" "1081" "0" "1081" "0" "c.1081A>G" "r.(?)" "p.(Asn361Asp)" "" "0000722235" "00021187" "30" "2457" "0" "2457" "0" "c.2457A>G" "r.(?)" "p.(Lys819=)" "" "0000733935" "00021187" "50" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Leu138Pro)" "" "0000734009" "00021187" "50" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Leu138Pro)" "" "0000734156" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000734190" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000734201" "00021187" "50" "2191" "0" "2191" "0" "c.2191C>T" "r.(?)" "p.(Arg731*)" "" "0000734215" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000734259" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000734272" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000734284" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000734302" "00021187" "50" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Gly715Ser)" "" "0000734308" "00021187" "50" "2440" "0" "2440" "0" "c.2440G>A" "r.(?)" "p.(Ala814Thr)" "" "0000734575" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000734584" "00021187" "50" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Leu138Pro)" "" "0000734616" "00021187" "50" "2059" "0" "2059" "0" "c.2059T>G" "r.(?)" "p.(Trp687Gly)" "" "0000734994" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000735054" "00021187" "50" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "" "0000735120" "00021187" "50" "2059" "0" "2059" "0" "c.2059T>G" "r.(?)" "p.(Trp687Gly)" "" "0000735142" "00021187" "50" "2059" "0" "2059" "0" "c.2059T>G" "r.(?)" "p.(Trp687Gly)" "" "0000735281" "00021187" "50" "2467" "0" "2467" "0" "c.2467C>A" "r.(?)" "p.(Pro823Thr)" "" "0000735494" "00021187" "50" "413" "0" "413" "0" "c.413T>C" "r.(?)" "p.(Leu138Pro)" "" "0000735507" "00021187" "50" "219" "0" "219" "0" "c.219C>G" "r.(?)" "p.(Ser73Arg)" "" "0000763332" "00021187" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Cys281Tyr)" "3" "0000798432" "00021187" "70" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Cys281Tyr)" "3" "0000803847" "00021187" "30" "892" "0" "892" "0" "c.892G>A" "r.(?)" "p.(Asp298Asn)" "" "0000803848" "00021187" "50" "1779" "0" "1779" "0" "c.1779G>A" "r.(?)" "p.(Trp593Ter)" "" "0000803849" "00021187" "30" "2288" "0" "2288" "0" "c.2288G>A" "r.(?)" "p.(Arg763His)" "" "0000852078" "00021187" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Cys281Tyr)" "" "0000852079" "00021187" "50" "1610" "0" "1610" "0" "c.1610C>T" "r.(?)" "p.(Thr537Met)" "" "0000852080" "00021187" "50" "2164" "0" "2164" "0" "c.2164A>G" "r.(?)" "p.(Ile722Val)" "" "0000861366" "00021187" "50" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Gln188Arg)" "" "0000888584" "00021187" "50" "842" "0" "842" "0" "c.842G>A" "r.(?)" "p.(Cys281Tyr)" "" "0000888585" "00021187" "30" "1062" "0" "1062" "0" "c.1062A>G" "r.(?)" "p.(Lys354=)" "" "0000924952" "00021187" "30" "2411" "0" "2411" "0" "c.2411G>A" "r.(?)" "p.(Arg804Gln)" "" "0000929508" "00021187" "30" "1329" "0" "1329" "0" "c.1329C>T" "r.(?)" "p.(Phe443=)" "" "0000929509" "00021187" "30" "1739" "0" "1739" "0" "c.1739A>C" "r.(?)" "p.(Asp580Ala)" "" "0000929510" "00021187" "30" "2410" "0" "2410" "0" "c.2410C>T" "r.(?)" "p.(Arg804Trp)" "" "0000935647" "00021187" "70" "2247" "0" "2247" "0" "c.2247T>A" "r.(2247u>a)" "p.(Phe749Leu)" "" "0000935648" "00021187" "70" "2287" "0" "2287" "0" "c.2287C>T" "r.(2287c>u)" "p.(Arg763Cys)" "" "0000949174" "00021187" "10" "1530" "0" "1530" "0" "c.1530G>T" "r.(?)" "p.(Gln510His)" "" "0001025574" "00021187" "50" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Arg257His)" "" "0001037156" "00021187" "50" "681" "0" "681" "0" "c.681del" "r.(?)" "p.(Arg227Serfs*5)" "" "0001037157" "00021187" "30" "1976" "0" "1976" "0" "c.1976T>C" "r.(?)" "p.(Met659Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000104470" "0000169288" "0000335513" "0000733935" "0000335533" "0000734009" "0000335580" "0000734156" "0000335593" "0000734190" "0000335595" "0000734201" "0000335598" "0000734215" "0000335609" "0000734259" "0000335616" "0000734272" "0000335622" "0000734284" "0000335629" "0000734302" "0000335631" "0000734308" "0000335753" "0000734575" "0000335754" "0000734584" "0000335764" "0000734616" "0000336073" "0000734994" "0000336081" "0000735054" "0000336099" "0000735120" "0000336105" "0000735142" "0000336161" "0000735281" "0000336261" "0000735494" "0000336264" "0000735507" "0000360848" "0000763332" "0000384011" "0000798432" "0000439742" "0000935647" "0000439743" "0000935648"