### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELANE) # 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}}" "ELANE" "elastase, neutrophil expressed" "19" "p13.3" "unknown" "LRG_57" "UD_132084543389" "" "https://www.LOVD.nl/ELANE" "" "1" "3309" "1991" "130130" "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/ELANE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-23 11:39:24" "00000" "2025-02-07 18:57:27" ## 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}}" "00007020" "ELANE" "elastase, neutrophil expressed" "001" "NM_001972.2" "" "NP_001963.1" "" "" "" "-38" "886" "804" "852291" "856246" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01468" "neutropenia" "neutropenia, cyclical" "AD" "162800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-29 14:46:59" "01636" "SCN1" "neutropenia, congenital, severe, autosomal dominant (SCN1)" "AD" "202700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-29 14:46:10" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ELANE" "01468" "ELANE" "01636" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00362775" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362776" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362777" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362778" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362779" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" "00362780" "" "" "" "1" "" "00006" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Canada" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00362775" "00198" "00362776" "00198" "00362777" "00198" "00362778" "00198" "00362779" "00198" "00362780" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01468, 01636 ## Count = 6 "{{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}}" "0000258145" "00198" "00362775" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Kostmann/severe congenital neutropenia" "" "0000258146" "00198" "00362776" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Cyclic neutropenia" "" "0000258147" "00198" "00362777" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Cyclic neutropenia" "" "0000258148" "00198" "00362778" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Kostmann/severe congenital neutropenia" "" "0000258149" "00198" "00362779" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Kostmann/severe congenital neutropenia" "" "0000258150" "00198" "00362780" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Kostmann/severe congenital neutropenia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000364003" "00362775" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364004" "00362776" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364005" "00362777" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364006" "00362778" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364007" "00362779" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" "0000364008" "00362780" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000364003" "ELANE" "0000364004" "ELANE" "0000364005" "ELANE" "0000364006" "ELANE" "0000364007" "ELANE" "0000364008" "ELANE" ## 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 = 48 "{{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}}" "0000266692" "0" "10" "19" "860852" "860852" "subst" "0.518714" "02325" "CFD_000003" "g.860852G>C" "" "" "" "CFD(NM_001928.4):c.213-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.860852G>C" "" "benign" "" "0000268803" "0" "30" "19" "853024" "853024" "subst" "0" "02329" "ELANE_000002" "g.853024G>T" "" "" "" "ELANE(NM_001972.2):c.216G>T (p.V72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.853024G>T" "" "likely benign" "" "0000268804" "0" "10" "19" "855587" "855587" "subst" "0.0147925" "02329" "ELANE_000003" "g.855587C>T" "" "" "" "ELANE(NM_001972.2):c.390C>T (p.(=), p.N130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.855587C>T" "" "benign" "" "0000268805" "0" "10" "19" "856015" "856015" "subst" "0.00220832" "02329" "ELANE_000005" "g.856015G>A" "" "" "" "ELANE(NM_001972.2):c.655G>A (p.V219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.856015G>A" "" "benign" "" "0000268806" "0" "30" "19" "856130" "856130" "subst" "0.00637653" "02329" "ELANE_000006" "g.856130C>T" "" "" "" "ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.856130C>T" "" "likely benign" "" "0000273277" "0" "30" "19" "859723" "859723" "subst" "0" "01943" "CFD_000001" "g.859723C>T" "" "" "" "CFD(NM_001928.2):c.34C>T (p.L12F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.859723C>T" "" "likely benign" "" "0000276077" "0" "30" "19" "853009" "853009" "subst" "0" "01943" "ELANE_000001" "g.853009G>T" "" "" "" "ELANE(NM_001972.2):c.201G>T (p.S67=), ELANE(NM_001972.4):c.201G>T (p.S67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.853009G>T" "" "likely benign" "" "0000276078" "0" "30" "19" "856130" "856130" "subst" "0.00637653" "01943" "ELANE_000006" "g.856130C>T" "" "" "" "ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.856130C>T" "" "likely benign" "" "0000276079" "0" "10" "19" "856145" "856145" "subst" "0.00113874" "01943" "ELANE_000007" "g.856145C>T" "" "" "" "ELANE(NM_001972.2):c.785C>T (p.P262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.856145C>T" "" "benign" "" "0000326008" "0" "50" "19" "860766" "860766" "subst" "0.0054098" "01804" "CFD_000002" "g.860766G>A" "" "" "" "CFD(NM_001928.2):c.205G>A (p.(Glu69Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.860766G>A" "" "VUS" "" "0000568899" "0" "30" "19" "852391" "852391" "subst" "4.65341E-5" "01943" "ELANE_000009" "g.852391G>T" "" "" "" "ELANE(NM_001972.2):c.63G>T (p.L21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.852391G>T" "" "likely benign" "" "0000568900" "0" "30" "19" "853009" "853009" "subst" "0" "02325" "ELANE_000001" "g.853009G>T" "" "" "" "ELANE(NM_001972.2):c.201G>T (p.S67=), ELANE(NM_001972.4):c.201G>T (p.S67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.853009G>T" "" "likely benign" "" "0000568901" "0" "30" "19" "855804" "855804" "subst" "8.79581E-5" "01943" "CFD_000004" "g.855804C>G" "" "" "" "ELANE(NM_001972.2):c.597+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.855804C>G" "" "likely benign" "" "0000568902" "0" "10" "19" "856015" "856015" "subst" "0.00220832" "01943" "ELANE_000005" "g.856015G>A" "" "" "" "ELANE(NM_001972.2):c.655G>A (p.V219I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.856015G>A" "" "benign" "" "0000568904" "0" "90" "19" "860686" "860686" "subst" "0" "02327" "CFD_000005" "g.860686C>A" "" "" "" "CFD(NM_001928.2):c.125C>A (p.S42*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.860686C>A" "" "pathogenic" "" "0000568905" "0" "10" "19" "860852" "860852" "subst" "0.518714" "02327" "CFD_000003" "g.860852G>C" "" "" "" "CFD(NM_001928.4):c.213-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.860852G>C" "" "benign" "" "0000568907" "0" "30" "19" "861014" "861014" "subst" "4.57055E-5" "01943" "CFD_000006" "g.861014C>G" "" "" "" "CFD(NM_001928.2):c.357+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.861014C>G" "" "likely benign" "" "0000617955" "0" "10" "19" "855587" "855587" "subst" "0.0147925" "01804" "ELANE_000003" "g.855587C>T" "" "" "" "ELANE(NM_001972.2):c.390C>T (p.(=), p.N130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.855587C>T" "" "benign" "" "0000617956" "0" "30" "19" "856130" "856130" "subst" "0.00637653" "01804" "ELANE_000006" "g.856130C>T" "" "" "" "ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.856130C>T" "" "likely benign" "" "0000617957" "0" "30" "19" "860766" "860766" "subst" "0.0054098" "02327" "CFD_000002" "g.860766G>A" "" "" "" "CFD(NM_001928.2):c.205G>A (p.(Glu69Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.860766G>A" "" "likely benign" "" "0000658701" "0" "50" "19" "855742" "855742" "subst" "1.65263E-5" "02325" "CFD_000010" "g.855742G>A" "" "" "" "ELANE(NM_001972.4):c.545G>A (p.R182H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.855742G>A" "" "VUS" "" "0000658702" "0" "30" "19" "856047" "856047" "subst" "5.68972E-5" "02326" "CFD_000011" "g.856047C>T" "" "" "" "ELANE(NM_001972.2):c.687C>T (p.P229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.856047C>T" "" "likely benign" "" "0000727583" "0" "30" "19" "852979" "852979" "subst" "0.00013604" "01943" "ELANE_000010" "g.852979C>T" "" "" "" "ELANE(NM_001972.2):c.171C>T (p.A57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727584" "0" "30" "19" "856144" "856144" "subst" "0.000139228" "01943" "CFD_000012" "g.856144C>T" "" "" "" "ELANE(NM_001972.2):c.784C>T (p.P262S), ELANE(NM_001972.4):c.784C>T (p.P262S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000764713" "0" "70" "19" "0" "0" "" "0" "00006" "NPHS1_000138" "g.?" "" "{PMID:Tsangaris 2011:21659346}" "" "4981del (A294fsX210)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000764714" "0" "70" "19" "0" "0" "" "0" "00006" "NPHS1_000138" "g.?" "" "{PMID:Tsangaris 2011:21659346}" "" "597G>A (V161F)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000764715" "0" "70" "19" "0" "0" "" "0" "00006" "NPHS1_000138" "g.?" "" "{PMID:Tsangaris 2011:21659346}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000764716" "0" "70" "19" "856034" "856034" "subst" "0" "00006" "ELANE_000011" "g.856034C>A" "" "{PMID:Tsangaris 2011:21659346}" "" "674C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.856034C>A" "" "likely pathogenic (recessive)" "" "0000764717" "0" "70" "19" "0" "0" "" "0" "00006" "NPHS1_000138" "g.?" "" "{PMID:Tsangaris 2011:21659346}" "" "97C>L" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000764718" "0" "70" "19" "0" "0" "" "0" "00006" "NPHS1_000138" "g.?" "" "{PMID:Tsangaris 2011:21659346}" "" "97C>L" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000809122" "0" "30" "19" "852871" "852871" "subst" "0" "01943" "ELANE_000012" "g.852871C>A" "" "" "" "ELANE(NM_001972.2):c.68-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809123" "0" "90" "19" "853345" "853345" "subst" "0" "02325" "ELANE_000013" "g.853345G>T" "" "" "" "ELANE(NM_001972.4):c.308G>T (p.R103L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855740" "0" "90" "19" "860686" "860686" "subst" "0" "01943" "CFD_000005" "g.860686C>A" "" "" "" "CFD(NM_001928.2):c.125C>A (p.S42*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866367" "0" "90" "19" "856019" "856019" "subst" "0" "02327" "CFD_000014" "g.856019G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000895200" "0" "30" "19" "852342" "852342" "subst" "0" "02326" "ELANE_000014" "g.852342G>T" "" "" "" "ELANE(NM_001972.2):c.14G>T (p.R5L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895201" "0" "30" "19" "853370" "853370" "subst" "1.71141E-5" "02326" "ELANE_000015" "g.853370C>T" "" "" "" "ELANE(NM_001972.2):c.333C>T (p.P111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895202" "0" "10" "19" "856145" "856145" "subst" "0.00113874" "02326" "ELANE_000007" "g.856145C>T" "" "" "" "ELANE(NM_001972.2):c.785C>T (p.P262L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915331" "0" "90" "19" "855574" "855574" "subst" "0" "02329" "CFD_000018" "g.855574C>T" "" "" "" "ELANE(NM_001972.4):c.377C>T (p.S126L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000915332" "0" "10" "19" "860780" "860780" "subst" "0.00208713" "02326" "CFD_000019" "g.860780G>T" "" "" "" "CFD(NM_001928.2):c.212+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915333" "0" "10" "19" "860784" "860784" "subst" "0.00212419" "02326" "CFD_000020" "g.860784G>A" "" "" "" "CFD(NM_001928.2):c.212+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000931135" "0" "30" "19" "853312" "853312" "subst" "1.71621E-5" "02326" "ELANE_000016" "g.853312G>A" "" "" "" "ELANE(NM_001972.2):c.275G>A (p.R92Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951385" "0" "90" "19" "852966" "852966" "subst" "0" "02327" "ELANE_000017" "g.852966A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970051" "0" "90" "19" "855574" "855574" "subst" "0" "02327" "CFD_000018" "g.855574C>T" "" "" "" "ELANE(NM_001972.4):c.377C>T (p.S126L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001005232" "0" "30" "19" "853254" "853254" "subst" "3.98621E-5" "01804" "ELANE_000018" "g.853254C>T" "" "" "" "ELANE(NM_001972.2):c.225-8C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015845" "0" "50" "19" "855642" "855642" "subst" "0" "02325" "CFD_000022" "g.855642G>A" "" "" "" "ELANE(NM_001972.4):c.445G>A (p.V149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015846" "0" "30" "19" "856144" "856144" "subst" "0.000139228" "02325" "CFD_000012" "g.856144C>T" "" "" "" "ELANE(NM_001972.2):c.784C>T (p.P262S), ELANE(NM_001972.4):c.784C>T (p.P262S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027284" "0" "90" "19" "852944" "852944" "subst" "0" "02327" "ELANE_000019" "g.852944T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001027285" "0" "30" "19" "856130" "856130" "subst" "0.00637653" "02327" "ELANE_000006" "g.856130C>T" "" "" "" "ELANE(NM_001972.2):c.770C>T (p.P257L, p.(Pro257Leu))" "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 ELANE ## Count = 48 "{{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}}" "0000266692" "00007020" "10" "5492" "0" "5492" "0" "c.*4688G>C" "r.(=)" "p.(=)" "" "0000268803" "00007020" "30" "216" "0" "216" "0" "c.216G>T" "r.(?)" "p.(Val72=)" "" "0000268804" "00007020" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Asn130=)" "" "0000268805" "00007020" "10" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Val219Ile)" "" "0000268806" "00007020" "30" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Pro257Leu)" "" "0000273277" "00007020" "30" "4363" "0" "4363" "0" "c.*3559C>T" "r.(=)" "p.(=)" "" "0000276077" "00007020" "30" "201" "0" "201" "0" "c.201G>T" "r.(?)" "p.(Ser67=)" "" "0000276078" "00007020" "30" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Pro257Leu)" "" "0000276079" "00007020" "10" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Pro262Leu)" "" "0000326008" "00007020" "50" "5406" "0" "5406" "0" "c.*4602G>A" "r.(=)" "p.(=)" "" "0000568899" "00007020" "30" "63" "0" "63" "0" "c.63G>T" "r.(?)" "p.(Leu21=)" "" "0000568900" "00007020" "30" "201" "0" "201" "0" "c.201G>T" "r.(?)" "p.(Ser67=)" "" "0000568901" "00007020" "30" "597" "10" "597" "10" "c.597+10C>G" "r.(=)" "p.(=)" "" "0000568902" "00007020" "10" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Val219Ile)" "" "0000568904" "00007020" "90" "5326" "0" "5326" "0" "c.*4522C>A" "r.(=)" "p.(=)" "" "0000568905" "00007020" "10" "5492" "0" "5492" "0" "c.*4688G>C" "r.(=)" "p.(=)" "" "0000568907" "00007020" "30" "5654" "0" "5654" "0" "c.*4850C>G" "r.(=)" "p.(=)" "" "0000617955" "00007020" "10" "390" "0" "390" "0" "c.390C>T" "r.(?)" "p.(Asn130=)" "" "0000617956" "00007020" "30" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Pro257Leu)" "" "0000617957" "00007020" "30" "5406" "0" "5406" "0" "c.*4602G>A" "r.(=)" "p.(=)" "" "0000658701" "00007020" "50" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "0000658702" "00007020" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Pro229=)" "" "0000727583" "00007020" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ala57=)" "" "0000727584" "00007020" "30" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Pro262Ser)" "" "0000764713" "00007020" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000764714" "00007020" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000764715" "00007020" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000764716" "00007020" "70" "674" "0" "674" "0" "c.674C>A" "r.(?)" "p.(Ser225Ter)" "" "0000764717" "00007020" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000764718" "00007020" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000809122" "00007020" "30" "68" "-5" "68" "-5" "c.68-5C>A" "r.spl?" "p.?" "" "0000809123" "00007020" "90" "308" "0" "308" "0" "c.308G>T" "r.(?)" "p.(Arg103Leu)" "" "0000855740" "00007020" "90" "5326" "0" "5326" "0" "c.*4522C>A" "r.(=)" "p.(=)" "" "0000866367" "00007020" "90" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "" "0000895200" "00007020" "30" "14" "0" "14" "0" "c.14G>T" "r.(?)" "p.(Arg5Leu)" "" "0000895201" "00007020" "30" "333" "0" "333" "0" "c.333C>T" "r.(?)" "p.(Pro111=)" "" "0000895202" "00007020" "10" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Pro262Leu)" "" "0000915331" "00007020" "90" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ser126Leu)" "" "0000915332" "00007020" "10" "5420" "0" "5420" "0" "c.*4616G>T" "r.(=)" "p.(=)" "" "0000915333" "00007020" "10" "5424" "0" "5424" "0" "c.*4620G>A" "r.(=)" "p.(=)" "" "0000931135" "00007020" "30" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Arg92Gln)" "" "0000951385" "00007020" "90" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(His53Arg)" "" "0000970051" "00007020" "90" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Ser126Leu)" "" "0001005232" "00007020" "30" "225" "-8" "225" "-8" "c.225-8C>T" "r.(=)" "p.(=)" "" "0001015845" "00007020" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Met)" "" "0001015846" "00007020" "30" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Pro262Ser)" "" "0001027284" "00007020" "90" "136" "0" "136" "0" "c.136T>C" "r.(?)" "p.(Ser46Pro)" "" "0001027285" "00007020" "30" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Pro257Leu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000364003" "0000764713" "0000364004" "0000764714" "0000364005" "0000764715" "0000364006" "0000764716" "0000364007" "0000764717" "0000364008" "0000764718"