### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLL4) # 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}}" "DLL4" "delta-like 4 (Drosophila)" "15" "q14" "unknown" "NC_000015.9" "UD_136086599031" "" "http://www.LOVD.nl/DLL4" "" "1" "2910" "54567" "605185" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DLL4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-13 21:02:15" "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}}" "00006481" "DLL4" "delta-like 4 (Drosophila)" "001" "NM_019074.3" "" "NP_061947.1" "" "" "" "-336" "3084" "2058" "41221531" "41231258" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04179" "AOS" "Adams-Oliver syndrome (AOS)" "" "" "" "" "" "00006" "2015-02-07 15:59:17" "00006" "2015-03-13 12:45:54" "06259" "AOS6" "Adams-Oliver syndrome 6" "AD" "616589" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DLL4" "06259" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00049874" "" "" "" "4" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "3-generation family, 4 affecteds (3F, M)" "M" "no" "" "" "0" "" "" "" "" "00049875" "" "" "" "3" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 2 affected sisters, unaffected carrier father" "M" "" "" "" "0" "" "" "" "" "00049876" "" "" "" "3" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 2 affecteds (mother/daugther)" "F" "" "" "" "0" "" "" "" "" "00049877" "" "" "" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 1 affected, carrier status unaffected parents unknown" "F" "" "" "" "0" "" "" "" "" "00049878" "" "" "" "8" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "4-generation family, 8 affecteds (4F, 4M)" "F" "" "" "" "0" "" "" "" "" "00049879" "" "" "" "2" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 2 affecteds (father/son)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049881" "" "" "" "2" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 1 affected (F), unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "" "00049882" "" "" "" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "" "00049883" "" "" "" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 1 affected, carrier status unaffected parents unknown" "M" "" "" "" "0" "" "" "" "" "00049893" "" "" "00049874" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "3-generation family, 4 affecteds (3F, M)" "F" "no" "" "" "0" "" "" "" "" "00049894" "" "" "00049874" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "3-generation family, 4 affecteds (3F, M)" "F" "no" "" "" "0" "" "" "" "" "00049895" "" "" "00049874" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "3-generation family, 4 affecteds (3F, M)" "F" "no" "" "" "0" "" "" "" "" "00049896" "" "" "00049875" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 2 affected sisters, unaffected carrier father" "F" "" "" "" "0" "" "" "" "" "00049897" "" "" "00049875" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 2 affected sisters, unaffected carrier father" "F" "" "" "" "0" "" "" "" "" "00049898" "" "" "00049876" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 2 affecteds (mother/daugther)" "F" "" "" "" "0" "" "" "" "" "00049899" "" "" "00049876" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "sister, no clinical information available" "F" "" "" "" "0" "" "" "" "" "00049900" "" "" "00049878" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "4-generation family, 8 affecteds (4F, 4M)" "F" "" "" "" "0" "" "" "" "" "00049901" "" "" "00049878" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "4-generation family, 8 affecteds (4F, 4M)" "F" "" "" "" "0" "" "" "" "" "00049902" "" "" "00049878" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "4-generation family, 8 affecteds (4F, 4M), no clinical data" "F" "" "" "" "0" "" "" "" "" "00049905" "" "" "00049878" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "4-generation family, 8 affecteds (4F, 4M)" "M" "" "" "" "0" "" "" "" "" "00049907" "" "" "00049879" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 2 affecteds (father/son)" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049908" "" "" "00049881" "1" "" "00006" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "2-generation family, 1 affected (F), unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "" "" "00449745" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00049874" "04179" "00049875" "00000" "00049876" "04179" "00049877" "04179" "00049878" "04179" "00049879" "04179" "00049881" "00000" "00049882" "04179" "00049883" "04179" "00049893" "04179" "00049894" "04179" "00049895" "04179" "00049896" "04179" "00049897" "04179" "00049898" "04179" "00049900" "04179" "00049901" "04179" "00049902" "00198" "00049905" "04179" "00049907" "04179" "00049908" "04179" "00449745" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 04179, 06259 ## Count = 20 "{{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}}" "0000036656" "04179" "00049883" "00006" "Isolated (sporadic)" "" "no further details, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036657" "04179" "00049882" "00006" "Isolated (sporadic)" "" "short distal phalangus middle finger right hand, symphalangism index finger, symbrachydactyly both feet; truncus arteriosus, ventricular septum defect; growth hormone deficiency, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036668" "04179" "00049877" "00006" "Isolated (sporadic)" "" "no further details, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036669" "00198" "00049902" "00006" "Unknown" "" "bald area on scalp, no further clinical data" "" "" "" "" "" "" "" "" "" "" "" "0000036670" "04179" "00049874" "00006" "Unknown" "" "left brachydactyly 3rd4th toes (confirmed by X-ray), normal scalp" "" "" "" "" "" "" "" "" "" "" "" "0000036671" "04179" "00049893" "00006" "Familial, autosomal dominant" "" "short distal phalanges (not confirmed by X-ray), normal scalp" "" "" "" "" "" "" "" "" "" "" "" "0000036672" "04179" "00049894" "00006" "Familial, autosomal dominant" "" "normal echocardiogram, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036673" "04179" "00049895" "00006" "Familial, autosomal dominant" "" "brachydactyly, syndactyly 2nd/3rd toes right foot; tricuspid insufficiency, ventricular septum defect, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036674" "04179" "00049896" "00006" "Familial" "" "ACC with underlying skull defect; brachydactyly left foot, missing toes right foot; normal echocardiogram, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036675" "04179" "00049897" "00006" "Familial" "" "ACC with underlying skull defect; brachysyndactyly right foot, severe\r\nbrachysyndactyly left foot; normal echocardiogram; small kidneys, mild hypertension, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036676" "04179" "00049876" "00006" "Familial" "" ", aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036677" "04179" "00049898" "00006" "Familial" "" ", aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036678" "04179" "00049878" "00006" "Familial, autosomal dominant" "" "syndactyly 2nd/3rd toes, hypoplastic toe nails, brachydactyly toes" "" "" "" "" "" "" "" "" "" "" "" "0000036679" "04179" "00049900" "00006" "Familial, autosomal dominant" "" "bald area on scal, cutis marmorata" "" "" "" "" "" "" "" "" "" "" "" "0000036680" "04179" "00049901" "00006" "Familial, autosomal dominant" "" "bald area on scalp; brachydactyly fingers/toes, syndactyly 2nd/3rd toes" "" "" "" "" "" "" "" "" "" "" "" "0000036683" "04179" "00049905" "00006" "Familial, autosomal dominant" "" "normal echocardiogram; cutis marmorata, epilepsy, learning difficulties,\r\nborderline intellectual function (TIQ 76) at young age, normal IQ at later age; mild periventricular leukomalacia, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036685" "04179" "00049879" "00006" "Familial" "" "no cardiac problems, no dilatation, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036686" "04179" "00049907" "00006" "Familial" "" "normal echocardiogram, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000036687" "04179" "00049908" "00006" "Isolated (sporadic)" "" "delayed ossification; hypoplastic toe nails; no cardiac problems; cutis marmorata; 2m-normal chest X-ray, aplasia cutis congenita scalp (HP:0007385)" "" "" "" "" "" "" "" "" "" "" "" "0000338906" "00139" "00449745" "03544" "Isolated (sporadic)" "" "HP:0001057 HP:0001249 HP:0001627 HP:0000365 HP:0001399" "" "" "" "" "" "" "" "" "AOS6" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000049795" "00049874" "1" "00006" "00006" "2015-09-13 21:11:46" "" "" "SEQ" "DNA" "" "" "0000049796" "00049875" "1" "00006" "00006" "2015-09-13 21:15:57" "" "" "SEQ" "DNA" "" "" "0000049797" "00049876" "1" "00006" "00006" "2015-09-13 21:18:47" "" "" "SEQ" "DNA" "" "" "0000049798" "00049877" "1" "00006" "00006" "2015-09-13 21:21:12" "" "" "SEQ" "DNA" "" "" "0000049799" "00049878" "1" "00006" "00006" "2015-09-13 21:24:20" "" "" "SEQ" "DNA" "" "" "0000049800" "00049879" "1" "00006" "00006" "2015-09-13 21:26:57" "" "" "SEQ" "DNA" "" "" "0000049802" "00049881" "1" "00006" "00006" "2015-09-13 21:30:24" "" "" "SEQ" "DNA" "" "" "0000049803" "00049882" "1" "00006" "00006" "2015-09-13 21:33:41" "" "" "SEQ" "DNA" "" "" "0000049804" "00049883" "1" "00006" "00006" "2015-09-13 21:38:48" "" "" "SEQ" "DNA" "" "" "0000049814" "00049893" "1" "00006" "00006" "2015-09-13 21:11:19" "" "" "SEQ" "DNA" "" "" "0000049815" "00049894" "1" "00006" "00006" "2015-09-13 21:11:19" "" "" "SEQ" "DNA" "" "" "0000049816" "00049895" "1" "00006" "00006" "2015-09-13 21:11:19" "" "" "SEQ" "DNA" "" "" "0000049817" "00049896" "1" "00006" "00006" "2015-09-13 21:15:38" "" "" "SEQ" "DNA" "" "" "0000049818" "00049897" "1" "00006" "00006" "2015-09-13 21:15:38" "" "" "SEQ" "DNA" "" "" "0000049819" "00049898" "1" "00006" "00006" "2015-09-13 21:18:29" "" "" "SEQ" "DNA" "" "" "0000049820" "00049899" "1" "00006" "00006" "2015-09-13 21:18:29" "" "" "SEQ" "DNA" "" "" "0000049821" "00049900" "1" "00006" "00006" "2015-09-13 21:24:02" "" "" "SEQ" "DNA" "" "" "0000049822" "00049901" "1" "00006" "00006" "2015-09-13 21:24:02" "" "" "SEQ" "DNA" "" "" "0000049823" "00049902" "1" "00006" "00006" "2015-09-13 21:24:02" "" "" "SEQ" "DNA" "" "" "0000049826" "00049905" "1" "00006" "00006" "2015-09-13 21:24:02" "" "" "SEQ" "DNA" "" "" "0000049828" "00049907" "1" "00006" "00006" "2015-09-13 21:26:30" "" "" "SEQ" "DNA" "" "" "0000049829" "00049908" "1" "00006" "00006" "2015-09-13 21:29:50" "" "" "SEQ" "DNA" "" "" "0000451339" "00449745" "1" "03544" "03544" "2024-05-09 12:05:57" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000049795" "DLL4" "0000049796" "DLL4" "0000049797" "DLL4" "0000049798" "DLL4" "0000049799" "DLL4" "0000049800" "DLL4" "0000049802" "DLL4" "0000049803" "DLL4" "0000049804" "DLL4" "0000049814" "DLL4" "0000049815" "DLL4" "0000049816" "DLL4" "0000049817" "DLL4" "0000049818" "DLL4" "0000049819" "DLL4" "0000049820" "DLL4" "0000049821" "DLL4" "0000049822" "DLL4" "0000049823" "DLL4" "0000049826" "DLL4" "0000049828" "DLL4" "0000049829" "DLL4" ## 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 = 40 "{{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}}" "0000078699" "0" "10" "15" "41221866" "41230233" "" "0" "00006" "DLL4_000000" "g.41221866_41230233=" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "no variant detected in blood sample\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000078700" "0" "90" "15" "41228857" "41228857" "subst" "0" "00006" "DLL4_000001" "g.41228857C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "individual has no phenotype, might be somatic mosaic" "Unknown" "" "" "0" "" "" "g.40936659C>T" "" "pathogenic" "" "0000078701" "0" "90" "15" "41228550" "41228550" "subst" "0" "00006" "DLL4_000002" "g.41228550C>G" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.40936352C>G" "" "pathogenic" "" "0000078702" "0" "90" "15" "41227244" "41227244" "subst" "0" "00006" "DLL4_000003" "g.41227244G>A" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Unknown" "" "" "0" "" "" "g.40935046G>A" "" "pathogenic" "" "0000078703" "1" "90" "15" "41227243" "41227243" "subst" "0" "00006" "DLL4_000004" "g.41227243T>C" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40935045T>C" "" "pathogenic" "" "0000078704" "0" "90" "15" "41223862" "41223862" "subst" "0" "00006" "DLL4_000005" "g.41223862C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.40931664C>T" "" "pathogenic" "" "0000078705" "0" "90" "15" "41224594" "41224594" "subst" "0" "00006" "DLL4_000006" "g.41224594C>A" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "unaffected individual, possible somatic mosaic" "Unknown" "" "" "0" "" "" "g.40932396C>A" "" "pathogenic" "" "0000078706" "0" "90" "15" "41222847" "41222847" "subst" "0" "00006" "DLL4_000007" "g.41222847G>C" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "De novo" "-" "" "0" "" "" "g.40930649G>C" "" "pathogenic" "" "0000078707" "0" "90" "15" "41223889" "41223889" "subst" "0" "00006" "DLL4_000008" "g.41223889T>C" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Unknown" "" "" "0" "" "" "g.40931691T>C" "" "pathogenic" "" "0000078730" "21" "90" "15" "41228845" "41228845" "subst" "0" "00006" "DLL4_000009" "g.41228845C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40936647C>T" "" "pathogenic" "" "0000078731" "21" "90" "15" "41228845" "41228845" "subst" "0" "00006" "DLL4_000009" "g.41228845C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40936647C>T" "" "pathogenic" "" "0000078732" "21" "90" "15" "41228845" "41228845" "subst" "0" "00006" "DLL4_000009" "g.41228845C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40936647C>T" "" "pathogenic" "" "0000078733" "11" "90" "15" "41228857" "41228857" "subst" "0" "00006" "DLL4_000001" "g.41228857C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40936659C>T" "" "pathogenic" "" "0000078734" "11" "90" "15" "41228857" "41228857" "subst" "0" "00006" "DLL4_000001" "g.41228857C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40936659C>T" "" "pathogenic" "" "0000078735" "21" "90" "15" "41228550" "41228550" "subst" "0" "00006" "DLL4_000002" "g.41228550C>G" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40936352C>G" "" "pathogenic" "" "0000078736" "21" "90" "15" "41228550" "41228550" "subst" "0" "00006" "DLL4_000002" "g.41228550C>G" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "?" "" "0" "" "" "g.40936352C>G" "" "pathogenic" "" "0000078737" "1" "90" "15" "41227243" "41227243" "subst" "0" "00006" "DLL4_000004" "g.41227243T>C" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "?" "" "0" "" "" "g.40935045T>C" "" "pathogenic" "" "0000078738" "1" "90" "15" "41227243" "41227243" "subst" "0" "00006" "DLL4_000004" "g.41227243T>C" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40935045T>C" "" "pathogenic" "" "0000078739" "21" "90" "15" "41227243" "41227243" "subst" "0" "00006" "DLL4_000004" "g.41227243T>C" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40935045T>C" "" "pathogenic" "" "0000078742" "11" "90" "15" "41227243" "41227243" "subst" "0" "00006" "DLL4_000004" "g.41227243T>C" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40935045T>C" "" "pathogenic" "" "0000078744" "11" "90" "15" "41223862" "41223862" "subst" "0" "00006" "DLL4_000005" "g.41223862C>T" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40931664C>T" "" "pathogenic" "" "0000078745" "21" "90" "15" "41224594" "41224594" "subst" "0" "00006" "DLL4_000006" "g.41224594C>A" "" "{PMID:Meester 2015:26299364}, {DOI:Meester 2015:10.1016/j.ajhg.2015.07.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.40932396C>A" "" "pathogenic" "" "0000554184" "0" "70" "15" "41222223" "41222223" "subst" "0" "02327" "DLL4_000010" "g.41222223C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40930025C>A" "" "likely pathogenic" "" "0000554185" "0" "50" "15" "41223877" "41223877" "subst" "0" "02326" "DLL4_000011" "g.41223877C>T" "" "" "" "DLL4(NM_019074.4):c.571C>T (p.R191C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40931679C>T" "" "VUS" "" "0000657561" "0" "30" "15" "41227314" "41227314" "subst" "0.0136947" "01804" "DLL4_000012" "g.41227314C>T" "" "" "" "DLL4(NM_019074.3):c.1239C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40935116C>T" "" "likely benign" "" "0000680158" "0" "30" "15" "41228998" "41228998" "subst" "0" "01804" "DLL4_000013" "g.41228998T>A" "" "" "" "DLL4(NM_019074.3):c.1813T>A (p.(Cys605Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806666" "0" "30" "15" "41224382" "41224382" "subst" "0.00101126" "02326" "DLL4_000014" "g.41224382G>A" "" "" "" "DLL4(NM_019074.4):c.672G>A (p.(Ser224=), p.S224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892021" "0" "70" "15" "41224627" "41224627" "subst" "0" "02327" "DLL4_000015" "g.41224627G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930373" "0" "30" "15" "41226833" "41226833" "subst" "0.000443133" "02325" "DLL4_000016" "g.41226833G>A" "" "" "" "DLL4(NM_019074.4):c.938G>A (p.R313H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950340" "0" "30" "15" "41222855" "41222855" "subst" "0.00413661" "02326" "DLL4_000017" "g.41222855C>T" "" "" "" "DLL4(NM_019074.4):c.369C>T (p.H123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981198" "0" "30" "15" "41224382" "41224382" "subst" "0.00101126" "01804" "DLL4_000014" "g.41224382G>A" "" "" "" "DLL4(NM_019074.4):c.672G>A (p.(Ser224=), p.S224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985193" "0" "70" "15" "41223878" "41223878" "subst" "0" "03544" "DLL4_000018" "g.41223878G>A" "" "" "" "" "" "Germline" "yes" "rs1357715175" "" "" "" "g.40931680G>A" "" "likely pathogenic" "ACMG" "0001001362" "0" "30" "15" "41221894" "41221894" "subst" "0" "01804" "DLL4_000019" "g.41221894G>C" "" "" "" "DLL4(NM_019074.3):c.28G>C (p.(Gly10Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001363" "0" "30" "15" "41221921" "41221921" "subst" "4.50325E-5" "01804" "DLL4_000020" "g.41221921C>T" "" "" "" "DLL4(NM_019074.3):c.55C>T (p.(Leu19Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001364" "0" "50" "15" "41226821" "41226821" "subst" "1.21927E-5" "01804" "DLL4_000021" "g.41226821C>G" "" "" "" "DLL4(NM_019074.3):c.926C>G (p.(Thr309Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001365" "0" "30" "15" "41226888" "41226888" "subst" "8.15867E-6" "01804" "DLL4_000022" "g.41226888C>G" "" "" "" "DLL4(NM_019074.3):c.993C>G (p.(Asn331Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001366" "0" "30" "15" "41228533" "41228533" "subst" "3.78104E-5" "01804" "DLL4_000023" "g.41228533G>A" "" "" "" "DLL4(NM_019074.3):c.1348G>A (p.(Ala450Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040327" "0" "50" "15" "41222276" "41222276" "subst" "0" "01804" "DLL4_000024" "g.41222276C>G" "" "" "" "DLL4(NM_019074.4):c.298C>G (p.(Arg100Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040328" "0" "50" "15" "41224414" "41224414" "subst" "5.27987E-5" "01804" "DLL4_000025" "g.41224414A>C" "" "" "" "DLL4(NM_019074.4):c.704A>C (p.(Lys235Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040329" "0" "30" "15" "41227096" "41227096" "subst" "4.09316E-5" "01804" "DLL4_000026" "g.41227096G>T" "" "" "" "DLL4(NM_019074.4):c.1021G>T (p.(Asp341Tyr))" "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 DLL4 ## Count = 40 "{{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}}" "0000078699" "00006481" "10" "-1" "0" "2059" "0" "c.-1_*1=" "r.(=)" "p.(=)" "1_11" "0000078700" "00006481" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558*)" "9" "0000078701" "00006481" "90" "1365" "0" "1365" "0" "c.1365C>G" "r.(?)" "p.(Cys455Trp)" "9" "0000078702" "00006481" "90" "1169" "0" "1169" "0" "c.1169G>A" "r.(?)" "p.(Cys390Tyr)" "8" "0000078703" "00006481" "90" "1168" "0" "1168" "0" "c.1168T>C" "r.(?)" "p.(Cys390Arg)" "8" "0000078704" "00006481" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "4" "0000078705" "00006481" "90" "799" "0" "799" "0" "c.799C>A" "r.(?)" "p.(Pro267Thr)" "6" "0000078706" "00006481" "90" "361" "0" "361" "0" "c.361G>C" "r.(?)" "p.(Ala121Pro)" "3" "0000078707" "00006481" "90" "583" "0" "583" "0" "c.583T>C" "r.(?)" "p.(Phe195Leu)" "4" "0000078730" "00006481" "90" "1660" "0" "1660" "0" "c.1660C>T" "r.(=)" "p.(Gln554*)" "9" "0000078731" "00006481" "90" "1660" "0" "1660" "0" "c.1660C>T" "r.(=)" "p.(Gln554*)" "9" "0000078732" "00006481" "90" "1660" "0" "1660" "0" "c.1660C>T" "r.(=)" "p.(Gln554*)" "9" "0000078733" "00006481" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558*)" "9" "0000078734" "00006481" "90" "1672" "0" "1672" "0" "c.1672C>T" "r.(?)" "p.(Arg558*)" "9" "0000078735" "00006481" "90" "1365" "0" "1365" "0" "c.1365C>G" "r.(?)" "p.(Cys455Trp)" "9" "0000078736" "00006481" "90" "1365" "0" "1365" "0" "c.1365C>G" "r.(?)" "p.(Cys455Trp)" "9" "0000078737" "00006481" "90" "1168" "0" "1168" "0" "c.1168T>C" "r.(?)" "p.(Cys390Arg)" "8" "0000078738" "00006481" "90" "1168" "0" "1168" "0" "c.1168T>C" "r.(?)" "p.(Cys390Arg)" "8" "0000078739" "00006481" "90" "1168" "0" "1168" "0" "c.1168T>C" "r.(?)" "p.(Cys390Arg)" "8" "0000078742" "00006481" "90" "1168" "0" "1168" "0" "c.1168T>C" "r.(?)" "p.(Cys390Arg)" "8" "0000078744" "00006481" "90" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186Cys)" "4" "0000078745" "00006481" "90" "799" "0" "799" "0" "c.799C>A" "r.(?)" "p.(Pro267Thr)" "6" "0000554184" "00006481" "70" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Pro82Gln)" "" "0000554185" "00006481" "50" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Arg191Cys)" "" "0000657561" "00006481" "30" "1239" "0" "1239" "0" "c.1239C>T" "r.(?)" "p.(Asn413=)" "" "0000680158" "00006481" "30" "1813" "0" "1813" "0" "c.1813T>A" "r.(?)" "p.(Cys605Ser)" "" "0000806666" "00006481" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Ser224=)" "" "0000892021" "00006481" "70" "832" "0" "832" "0" "c.832G>A" "r.(?)" "p.(Gly278Ser)" "" "0000930373" "00006481" "30" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Arg313His)" "" "0000950340" "00006481" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(=)" "" "0000981198" "00006481" "30" "672" "0" "672" "0" "c.672G>A" "r.(?)" "p.(Ser224=)" "" "0000985193" "00006481" "70" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191His)" "4" "0001001362" "00006481" "30" "28" "0" "28" "0" "c.28G>C" "r.(?)" "p.(Gly10Arg)" "" "0001001363" "00006481" "30" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Leu19Phe)" "" "0001001364" "00006481" "50" "926" "0" "926" "0" "c.926C>G" "r.(?)" "p.(Thr309Ser)" "" "0001001365" "00006481" "30" "993" "0" "993" "0" "c.993C>G" "r.(?)" "p.(Asn331Lys)" "" "0001001366" "00006481" "30" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Ala450Thr)" "" "0001040327" "00006481" "50" "298" "0" "298" "0" "c.298C>G" "r.(?)" "p.(Arg100Gly)" "" "0001040328" "00006481" "50" "704" "0" "704" "0" "c.704A>C" "r.(?)" "p.(Lys235Thr)" "" "0001040329" "00006481" "30" "1021" "0" "1021" "0" "c.1021G>T" "r.(?)" "p.(Asp341Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000049795" "0000078699" "0000049796" "0000078700" "0000049797" "0000078701" "0000049798" "0000078702" "0000049799" "0000078703" "0000049800" "0000078704" "0000049802" "0000078705" "0000049803" "0000078706" "0000049804" "0000078707" "0000049814" "0000078730" "0000049815" "0000078731" "0000049816" "0000078732" "0000049817" "0000078733" "0000049818" "0000078734" "0000049819" "0000078735" "0000049820" "0000078736" "0000049821" "0000078737" "0000049822" "0000078738" "0000049823" "0000078739" "0000049826" "0000078742" "0000049828" "0000078744" "0000049829" "0000078745" "0000451339" "0000985193"