### LOVD-version 3000-25c ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TLR7) # 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}}" "TLR7" "toll-like receptor 7" "X" "p22.3" "unknown" "NG_012569.1" "UD_132119014677" "" "https://www.LOVD.nl/TLR7" "" "1" "15631" "51284" "300365" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/TLR7_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-07-24 22:17:11" "00000" "2020-09-15 15:50:26" ## 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}}" "00000914" "TLR7" "toll-like receptor 7" "001" "NM_016562.3" "" "NP_057646.1" "" "" "" "-139" "4853" "3150" "12885202" "12908480" "00000" "2012-09-13 12:58:48" "" "" ## 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}}" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-24 17:14:32" "05467" "Behcet" "syndrome, Behcet" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "" "" "05792" "virus" "virus, susceptibility to" "" "" "" "" "" "00006" "2020-07-24 22:16:02" "" "" "05793" "virus, COVID-19" "virus, COVID-19, susceptibility to" "XLR" "" "" "" "" "00006" "2020-07-24 22:16:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TLR7" "05792" "TLR7" "05793" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000208" "" "" "" "1" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00172778" "" "" "" "3" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172779" "" "" "" "15" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172780" "" "" "" "33" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172781" "" "" "" "1" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00180530" "" "" "" "67" "02555" "{PMID:Mizuki 2011:21167247}" "Japanese cohort" "F;M" "" "Japan" "" "0" "{DB:Uveo2705?snp=rs3853839&t=1535416617}" "" "Japanese" "" "00306975" "" "" "" "2" "00006" "{PMID:van der Made 2020:32706371}" "2-generation family, 2 affected brothers, parents mild to moderate respiratory symptoms from infection" "M" "" "Netherlands" "" "0" "" "" "" "Fam1PatII1" "00306976" "" "" "00306975" "1" "00006" "{PMID:van der Made 2020:32706371}" "brother" "M" "" "Netherlands" "29y" "0" "" "" "" "Fam1PatII2" "00306977" "" "" "" "2" "00006" "{PMID:van der Made 2020:32706371}" "2-generation family, 2 affected brothers" "M" "" "" "" "0" "" "" "Africa" "Fam2PatII1" "00306978" "" "" "00306977" "1" "00006" "{PMID:van der Made 2020:32706371}" "brother" "M" "" "" "" "0" "" "" "Africa" "Fam2Patii2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00172778" "00187" "00172779" "00187" "00172780" "00187" "00172781" "00187" "00180530" "05467" "00306975" "05792" "00306976" "05792" "00306977" "05792" "00306978" "05792" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00187, 01157, 05467, 05792, 05793 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "0000137642" "00187" "00172778" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137643" "00187" "00172779" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137644" "00187" "00172780" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137645" "00187" "00172781" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000142925" "05467" "00180530" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "0000232794" "05792" "00306976" "00006" "Familial, X-linked recessive" "29y" "29y-COVID-19 infection admitted ICU, spiking fevers with shock, hypotension refractory to treatment with inotropic agents and corticosteroids, concurrent secondary bacterial infection, did not survive" "29y" "" "" "" "" "" "" "" "" "susceptibility COVID-19 virus" "0000232795" "05792" "00306975" "00006" "Familial, X-linked recessive" "32y" "see paper; ..., COVID-19 infection dyspnea, hypoxia with computed tomographic diffuse bilateral ground-glass opacities lungs; history chronic nonallergic rhinosinusitis" "32y" "" "" "" "" "" "" "" "" "susceptibility COVID-19 virus" "0000232796" "05792" "00306977" "00006" "Familial, X-linked recessive" "21y" "see pape; ..., COVID-19 infection computed tomographic scan lungs bilateral ground-glass opacities, consolidations, additional subtle subsegmental pulmonary embolisms, anticoagulants started; imminent respiratory insufficiency" "21y" "" "" "" "" "" "" "" "" "susceptibility COVID-19 virus" "0000232797" "05792" "00306978" "00006" "Familial, X-linked recessive" "23y" "see pape; ..., severe COVID-19 infection admitted to ICU, intubated and mechanically ventilated for 9d, discharged to clinical ward after extubation" "23y" "" "" "" "" "" "" "" "" "susceptibility COVID-19 virus" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000173661" "00172778" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173662" "00172779" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173663" "00172780" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173664" "00172781" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000181467" "00180530" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000308113" "00306975" "1" "00006" "00006" "2020-07-24 22:21:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308114" "00306976" "1" "00006" "00006" "2020-07-24 22:28:49" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308115" "00306977" "1" "00006" "00006" "2020-07-24 22:39:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000308116" "00306978" "1" "00006" "00006" "2020-07-24 22:47:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000173661" "ARMCX1" "0000173662" "IL1RAPL2" "0000173663" "IL1RAPL2" "0000173664" "IL1RAPL2" "0000181467" "TLR7" "0000308113" "TLR7" "0000308114" "TLR7" "0000308115" "TLR7" "0000308116" "TLR7" ## 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 = 26 "{{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}}" "0000001792" "0" "50" "X" "12907535" "12907535" "dup" "0" "00037" "TLR7_000001" "g.12907535dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.12889416dup" "" "VUS" "" "0000002788" "0" "50" "X" "12907535" "12907535" "dup" "0" "00037" "TLR7_000002" "g.12907535dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.12889416dup" "" "VUS" "" "0000316647" "0" "30" "X" "12905190" "12905190" "subst" "0.000209127" "01943" "TLR7_000005" "g.12905190C>T" "" "" "" "TLR7(NM_016562.3):c.1563C>T (p.C521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12887071C>T" "" "likely benign" "" "0000316648" "0" "30" "X" "12905372" "12905372" "subst" "0.0000451518" "01943" "TLR7_000006" "g.12905372C>T" "" "" "" "TLR7(NM_016562.3):c.1745C>T (p.S582L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12887253C>T" "" "likely benign" "" "0000316649" "0" "30" "X" "12905876" "12905876" "subst" "0.0000280595" "01943" "TLR7_000008" "g.12905876G>A" "" "" "" "TLR7(NM_016562.3):c.2249G>A (p.R750Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12887757G>A" "" "likely benign" "" "0000333177" "0" "50" "X" "12904934" "12904934" "subst" "0" "01804" "TLR7_000003" "g.12904934C>T" "" "" "" "TLR7(NM_016562.3):c.1307C>T (p.(Ser436Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12886815C>T" "" "VUS" "" "0000333178" "0" "30" "X" "12904970" "12904970" "subst" "0.00289899" "01804" "TLR7_000004" "g.12904970C>T" "" "" "" "TLR7(NM_016562.3):c.1343C>T (p.(Ala448Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12886851C>T" "" "likely benign" "" "0000333179" "0" "50" "X" "12905804" "12905804" "subst" "0" "01804" "TLR7_000007" "g.12905804A>G" "" "" "" "TLR7(NM_016562.3):c.2177A>G (p.K726R, p.(Lys726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12887685A>G" "" "VUS" "" "0000393520" "1" "30" "X" "12904662" "12904662" "subst" "0.0148984" "00124" "TLR7_000012" "g.12904662G>A" "3/208 cases" "{PMID:Tarpey 2009:19377476}" "" "L345L" "recurrent, found 3 times" "Germline" "" "" "0" "" "" "g.12886543G>A" "" "likely benign" "" "0000393521" "1" "30" "X" "12906030" "12906030" "subst" "0.079421" "00124" "TLR7_000013" "g.12906030G>A" "15/208 cases" "{PMID:Tarpey 2009:19377476}" "" "T801T" "recurrent, found 15 times" "Germline" "" "" "0" "" "" "g.12887911G>A" "" "likely benign" "" "0000393522" "1" "50" "X" "12903659" "12903659" "subst" "0.17905" "00124" "TLR7_000010" "g.12903659A>T" "33/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "recurrent, found 33 times" "Germline" "" "" "0" "" "" "g.12885540A>T" "" "VUS" "" "0000393523" "1" "50" "X" "12904292" "12904292" "subst" "0.00242112" "00124" "TLR7_000011" "g.12904292T>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.12886173T>A" "" "VUS" "" "0000405163" "0" "50" "X" "12907658" "12907658" "subst" "0" "02555" "TLR7_000014" "g.12907658C>G" "67/400 cases" "{PMID:Mizuki 2011:21167247}" "" "" "{DB:Uveo2705?snp=rs3853839&t=1535416617}" "Germline" "" "rs3853839" "0" "" "" "g.12889539C>G" "" "VUS" "" "0000573451" "0" "30" "X" "12903875" "12903875" "subst" "0.000117751" "01804" "TLR7_000015" "g.12903875C>T" "" "" "" "TLR7(NM_016562.3):c.248C>T (p.(Ala83Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12885756C>T" "" "likely benign" "" "0000573455" "0" "30" "X" "12904292" "12904292" "subst" "0.00242112" "01804" "TLR7_000011" "g.12904292T>A" "" "" "" "TLR7(NM_016562.3):c.665T>A (p.(Val222Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12886173T>A" "" "likely benign" "" "0000573458" "0" "30" "X" "12905477" "12905477" "subst" "0.0000280167" "01943" "TLR7_000016" "g.12905477A>C" "" "" "" "TLR7(NM_016562.3):c.1850A>C (p.E617A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12887358A>C" "" "likely benign" "" "0000573462" "0" "50" "X" "12906343" "12906343" "subst" "0.0000279758" "01943" "TLR7_000017" "g.12906343G>A" "" "" "" "TLR7(NM_016562.3):c.2716G>A (p.E906K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12888224G>A" "" "VUS" "" "0000573465" "0" "10" "X" "12906721" "12906721" "subst" "0.000741748" "02330" "TLR7_000009" "g.12906721G>A" "" "" "" "TLR7(NM_016562.3):c.3094G>A (p.A1032T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12888602G>A" "" "benign" "" "0000618989" "0" "30" "X" "12906675" "12906675" "subst" "0.000391536" "01943" "TLR7_000018" "g.12906675A>C" "" "" "" "TLR7(NM_016562.3):c.3048A>C (p.P1016=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12888556A>C" "" "likely benign" "" "0000659078" "0" "30" "X" "12905804" "12905804" "subst" "0" "01943" "TLR7_000007" "g.12905804A>G" "" "" "" "TLR7(NM_016562.3):c.2177A>G (p.K726R, p.(Lys726Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12887685A>G" "" "likely benign" "" "0000674953" "21" "90" "X" "12905756" "12905759" "del" "0" "00006" "TLR7_000019" "g.12905756_12905759del" "" "{PMID:van der Made 2020:32706371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12887637_12887640del" "" "likely pathogenic (recessive)" "" "0000674954" "21" "90" "X" "12905756" "12905759" "del" "0" "00006" "TLR7_000019" "g.12905756_12905759del" "" "{PMID:van der Made 2020:32706371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12887637_12887640del" "" "likely pathogenic (recessive)" "" "0000674955" "20" "70" "X" "12906010" "12906010" "subst" "0" "00006" "TLR7_000020" "g.12906010G>T" "" "{PMID:van der Made 2020:32706371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12887891G>T" "" "likely pathogenic (recessive)" "" "0000674956" "20" "70" "X" "12906010" "12906010" "subst" "0" "00006" "TLR7_000020" "g.12906010G>T" "" "{PMID:van der Made 2020:32706371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12887891G>T" "" "likely pathogenic (recessive)" "" "0000682081" "0" "90" "X" "12905756" "12905759" "del" "0" "02327" "TLR7_000019" "g.12905756_12905759del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000682082" "0" "90" "X" "12906010" "12906010" "subst" "0" "02327" "TLR7_000020" "g.12906010G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 TLR7 ## Count = 26 "{{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}}" "0000001792" "00000914" "50" "3908" "0" "3908" "0" "c.*758dup" "r.(=)" "p.(=)" "" "0000002788" "00000914" "50" "3908" "0" "3908" "0" "c.*758dup" "r.(=)" "p.(=)" "" "0000316647" "00000914" "30" "1563" "0" "1563" "0" "c.1563C>T" "r.(?)" "p.(Cys521=)" "" "0000316648" "00000914" "30" "1745" "0" "1745" "0" "c.1745C>T" "r.(?)" "p.(Ser582Leu)" "" "0000316649" "00000914" "30" "2249" "0" "2249" "0" "c.2249G>A" "r.(?)" "p.(Arg750Gln)" "" "0000333177" "00000914" "50" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Ser436Leu)" "" "0000333178" "00000914" "30" "1343" "0" "1343" "0" "c.1343C>T" "r.(?)" "p.(Ala448Val)" "" "0000333179" "00000914" "50" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(Lys726Arg)" "" "0000393520" "00000914" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(=)" "p.(=)" "" "0000393521" "00000914" "30" "2403" "0" "2403" "0" "c.2403G>A" "r.(=)" "p.(=)" "" "0000393522" "00000914" "50" "32" "0" "32" "0" "c.32A>T" "r.(?)" "p.(Gln11Leu)" "" "0000393523" "00000914" "50" "665" "0" "665" "0" "c.665T>A" "r.(?)" "p.(Val222Asp)" "" "0000405163" "00000914" "00" "4031" "0" "4031" "0" "c.*881C>G" "r.(=)" "p.(=)" "" "0000573451" "00000914" "30" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Ala83Val)" "" "0000573455" "00000914" "30" "665" "0" "665" "0" "c.665T>A" "r.(?)" "p.(Val222Asp)" "" "0000573458" "00000914" "30" "1850" "0" "1850" "0" "c.1850A>C" "r.(?)" "p.(Glu617Ala)" "" "0000573462" "00000914" "50" "2716" "0" "2716" "0" "c.2716G>A" "r.(?)" "p.(Glu906Lys)" "" "0000573465" "00000914" "10" "3094" "0" "3094" "0" "c.3094G>A" "r.(?)" "p.(Ala1032Thr)" "" "0000618989" "00000914" "30" "3048" "0" "3048" "0" "c.3048A>C" "r.(?)" "p.(Pro1016=)" "" "0000659078" "00000914" "30" "2177" "0" "2177" "0" "c.2177A>G" "r.(?)" "p.(Lys726Arg)" "" "0000674953" "00000914" "90" "2129" "0" "2132" "0" "c.2129_2132del" "r.(?)" "p.(Gln710Argfs*18)" "" "0000674954" "00000914" "90" "2129" "0" "2132" "0" "c.2129_2132del" "r.(?)" "p.(Gln710Argfs*18)" "" "0000674955" "00000914" "70" "2383" "0" "2383" "0" "c.2383G>T" "r.(?)" "p.(Val795Phe)" "" "0000674956" "00000914" "70" "2383" "0" "2383" "0" "c.2383G>T" "r.(?)" "p.(Val795Phe)" "" "0000682081" "00000914" "90" "2129" "0" "2132" "0" "c.2129_2132del" "r.(?)" "p.(Gln710ArgfsTer18)" "" "0000682082" "00000914" "90" "2383" "0" "2383" "0" "c.2383G>T" "r.(?)" "p.(Val795Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000209" "0000001792" "0000000209" "0000002788" "0000173661" "0000393520" "0000173662" "0000393521" "0000173663" "0000393522" "0000173664" "0000393523" "0000181467" "0000405163" "0000308113" "0000674953" "0000308114" "0000674954" "0000308115" "0000674955" "0000308116" "0000674956"