### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DGKE) # 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}}" "DGKE" "diacylglycerol kinase, epsilon 64kDa" "17" "q22" "unknown" "NG_033888.1" "UD_132378634870" "" "https://www.LOVD.nl/DGKE" "" "1" "2852" "8526" "601440" "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/DGKE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-03-10 16:49:11" "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}}" "00006367" "DGKE" "diacylglycerol kinase, epsilon 64kDa" "001" "NM_003647.2" "" "NP_003638.1" "" "" "" "-180" "7588" "1704" "54911460" "54946036" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00399" "NPHS" "nephrotic syndrome (NPHS)" "" "" "" "" "" "00006" "2014-06-06 10:05:35" "00006" "2018-07-03 16:45:22" "03804" "NPHS7;AHUS7" "nephrotic syndrome, type 7 (NPHS7, AHUS7 included)" "AR" "615008" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-03-10 15:24:07" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05711" "AHUS" "hemolyticuremic syndrome, atypical (AHUS)" "" "" "" "" "" "00006" "2020-03-10 15:20:04" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DGKE" "00399" "DGKE" "03804" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00207887" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "F" "" "Canada" "" "0" "" "" "" "28771251-Pat34" "00289441" "" "" "" "1" "" "03618" "" "one affected case (aHUS)" "-" "no" "Czech Republic" ">15y" "0" "" "" "Czech" "aHUS_CZ1" "00362002" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat5AB" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00207887" "00198" "00289441" "05711" "00362002" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00399, 03804, 04214, 05711 ## Count = 2 "{{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}}" "0000155671" "00198" "00207887" "00006" "Familial, autosomal recessive" "" "Hemolytic uremic syndrome" "" "" "" "" "" "" "" "" "NPHS-7" "" "" "0000257395" "04214" "00362002" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208929" "00207887" "1" "00006" "00006" "2018-12-02 17:52:50" "" "" "SEQ" "DNA" "" "WGS" "0000290609" "00289441" "1" "03618" "03618" "2020-03-10 12:33:49" "" "" "MLPA;SEQ-NG" "DNA" "" "" "0000363230" "00362002" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000208929" "DGKE" "0000290609" "C3" "0000290609" "C5" "0000290609" "CD46" "0000290609" "CFB" "0000290609" "CFD" "0000290609" "CFH" "0000290609" "CFHR1" "0000290609" "CFHR2" "0000290609" "CFHR3" "0000290609" "CFHR4" "0000290609" "CFHR5" "0000290609" "CFI" "0000290609" "DGKE" "0000290609" "PLG" "0000290609" "THBD" ## 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 = 46 "{{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}}" "0000248697" "0" "10" "17" "54921494" "54921494" "subst" "0.725112" "02325" "DGKE_000001" "g.54921494A>C" "" "" "" "DGKE(NM_003647.3):c.579A>C (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56844133A>C" "" "benign" "" "0000340993" "0" "10" "17" "54921494" "54921494" "subst" "0.725112" "02327" "DGKE_000001" "g.54921494A>C" "" "" "" "DGKE(NM_003647.3):c.579A>C (p.T193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56844133A>C" "" "benign" "" "0000343739" "0" "50" "17" "54933928" "54933928" "subst" "6.50502E-5" "02327" "DGKE_000004" "g.54933928A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.56856567A>G" "" "VUS" "" "0000438964" "3" "90" "17" "54921409" "54921409" "subst" "0" "00006" "DGKE_000005" "g.54921409A>G" "" "{PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.56844048A>G" "" "pathogenic (recessive)" "" "0000562340" "0" "50" "17" "54912144" "54912144" "subst" "0" "02327" "C17orf67_000001" "g.54912144G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834783G>A" "" "VUS" "" "0000562341" "0" "30" "17" "54912191" "54912191" "subst" "0.00470541" "01943" "C17orf67_000002" "g.54912191C>T" "" "" "" "DGKE(NM_003647.2):c.35C>T (p.P12L), DGKE(NM_003647.3):c.35C>T (p.P12L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834830C>T" "" "likely benign" "" "0000562342" "0" "10" "17" "54912191" "54912191" "subst" "0.00470541" "02326" "C17orf67_000002" "g.54912191C>T" "" "" "" "DGKE(NM_003647.2):c.35C>T (p.P12L), DGKE(NM_003647.3):c.35C>T (p.P12L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834830C>T" "" "benign" "" "0000562343" "0" "30" "17" "54912215" "54912215" "subst" "0.00329454" "02327" "C17orf67_000003" "g.54912215G>A" "" "" "" "DGKE(NM_003647.3):c.59G>A (p.(Gly20Glu), p.G20E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834854G>A" "" "likely benign" "" "0000562344" "0" "30" "17" "54912285" "54912285" "subst" "0.00200284" "01943" "C17orf67_000004" "g.54912285G>A" "" "" "" "DGKE(NM_003647.2):c.129G>A (p.Q43=), DGKE(NM_003647.3):c.129G>A (p.Q43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834924G>A" "" "likely benign" "" "0000562345" "0" "70" "17" "54912334" "54912334" "subst" "4.08844E-6" "02327" "C17orf67_000005" "g.54912334C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834973C>G" "" "likely pathogenic" "" "0000562346" "0" "10" "17" "54912339" "54912339" "subst" "0.125239" "02327" "C17orf67_000006" "g.54912339G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834978G>A" "" "benign" "" "0000562347" "0" "50" "17" "54921377" "54921377" "subst" "0.000497055" "02327" "DGKE_000006" "g.54921377C>T" "" "" "" "DGKE(NM_003647.2):c.465-3C>T, DGKE(NM_003647.3):c.465-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56844016C>T" "" "VUS" "" "0000562348" "0" "50" "17" "54925389" "54925389" "subst" "0" "02327" "DGKE_000007" "g.54925389G>A" "" "" "" "DGKE(NM_003647.2):c.851G>A (p.G284E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56848028G>A" "" "VUS" "" "0000562349" "0" "10" "17" "54925493" "54925496" "dup" "0" "02326" "DGKE_000008" "g.54925493_54925496dup" "" "" "" "DGKE(NM_003647.3):c.888+67_888+70dupATAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56848132_56848135dup" "" "benign" "" "0000562350" "0" "10" "17" "54925495" "54925496" "dup" "0" "02326" "DGKE_000009" "g.54925495_54925496dup" "" "" "" "DGKE(NM_003647.3):c.888+69_888+70dupAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56848134_56848135dup" "" "benign" "" "0000562351" "0" "90" "17" "54939220" "54939220" "subst" "0" "02327" "DGKE_000010" "g.54939220C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56861859C>A" "" "pathogenic" "" "0000616701" "0" "30" "17" "54912391" "54912391" "subst" "0.000535897" "01943" "C17orf67_000007" "g.54912391C>G" "" "" "" "DGKE(NM_003647.2):c.235C>G (p.Q79E), DGKE(NM_003647.3):c.235C>G (p.Q79E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56835030C>G" "" "likely benign" "" "0000616702" "0" "30" "17" "54925336" "54925336" "subst" "0.00925744" "02327" "DGKE_000011" "g.54925336T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56847975T>A" "" "likely benign" "" "0000616703" "0" "30" "17" "54939958" "54939958" "subst" "0" "02327" "DGKE_000012" "g.54939958G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56862597G>A" "" "likely benign" "" "0000647296" "1" "70" "17" "54912327" "54912327" "del" "0" "03618" "DGKE_000013" "g.54912327del" "" "" "" "171delG" "absent from databases" "Germline" "?" "" "0" "" "" "g.56834966del" "" "likely pathogenic (recessive)" "" "0000647297" "2" "70" "17" "54926134" "54926134" "subst" "8.12295E-5" "03618" "DGKE_000014" "g.54926134G>A" "A=0.00006/7 (ExAC)" "" "" "" "" "Germline" "?" "rs138924661" "0" "" "" "g.56848773G>A" "{CV:135641}" "pathogenic (recessive)" "" "0000658199" "0" "50" "17" "54921377" "54921377" "subst" "0.000497055" "01943" "DGKE_000006" "g.54921377C>T" "" "" "" "DGKE(NM_003647.2):c.465-3C>T, DGKE(NM_003647.3):c.465-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56844016C>T" "" "VUS" "" "0000658200" "0" "30" "17" "54940127" "54940127" "subst" "0.00180337" "02327" "DGKE_000015" "g.54940127A>G" "" "" "" "DGKE(NM_003647.2):c.1679A>G (p.Q560R), DGKE(NM_003647.3):c.1679A>G (p.Q560R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56862766A>G" "" "likely benign" "" "0000680931" "0" "50" "17" "54923080" "54923080" "subst" "8.17722E-6" "02327" "DGKE_000016" "g.54923080C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56845719C>T" "" "VUS" "" "0000726526" "0" "30" "17" "54912285" "54912285" "subst" "0.00200284" "02326" "C17orf67_000004" "g.54912285G>A" "" "" "" "DGKE(NM_003647.2):c.129G>A (p.Q43=), DGKE(NM_003647.3):c.129G>A (p.Q43=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56834924G>A" "" "likely benign" "" "0000726527" "0" "30" "17" "54939273" "54939273" "subst" "3.38012E-5" "02326" "DGKE_000017" "g.54939273T>C" "" "" "" "DGKE(NM_003647.3):c.1406T>C (p.L469P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.56861912T>C" "" "likely benign" "" "0000763739" "0" "50" "17" "54939158" "54939158" "subst" "0" "00000" "DGKE_000018" "g.54939158C>G" "" "{PMID:Duvvari 2016:27007659}" "" "1291C>G" "" "Germline" "" "" "0" "" "" "g.56861797C>G" "" "VUS" "" "0000808120" "0" "50" "17" "54925389" "54925389" "subst" "0" "01943" "DGKE_000007" "g.54925389G>A" "" "" "" "DGKE(NM_003647.2):c.851G>A (p.G284E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808121" "0" "30" "17" "54940127" "54940127" "subst" "0.00180337" "01943" "DGKE_000015" "g.54940127A>G" "" "" "" "DGKE(NM_003647.2):c.1679A>G (p.Q560R), DGKE(NM_003647.3):c.1679A>G (p.Q560R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855007" "0" "30" "17" "54940127" "54940127" "subst" "0.00180337" "02326" "DGKE_000015" "g.54940127A>G" "" "" "" "DGKE(NM_003647.2):c.1679A>G (p.Q560R), DGKE(NM_003647.3):c.1679A>G (p.Q560R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865374" "0" "30" "17" "54923187" "54923187" "del" "0" "02326" "DGKE_000019" "g.54923187del" "" "" "" "DGKE(NM_003647.3):c.744+17delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894048" "0" "30" "17" "54912215" "54912215" "subst" "0.00329454" "02326" "C17orf67_000003" "g.54912215G>A" "" "" "" "DGKE(NM_003647.3):c.59G>A (p.(Gly20Glu), p.G20E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894049" "0" "30" "17" "54939528" "54939528" "subst" "0.000840753" "02326" "DGKE_000020" "g.54939528T>C" "" "" "" "DGKE(NM_003647.3):c.1440T>C (p.V480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914900" "0" "30" "17" "54912411" "54912411" "subst" "0.000772084" "02326" "C17orf67_000008" "g.54912411C>T" "" "" "" "DGKE(NM_003647.3):c.255C>T (p.A85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914901" "0" "30" "17" "54921377" "54921377" "subst" "0.000497055" "02326" "DGKE_000006" "g.54921377C>T" "" "" "" "DGKE(NM_003647.2):c.465-3C>T, DGKE(NM_003647.3):c.465-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926563" "0" "90" "17" "54921456" "54921456" "subst" "0" "02327" "DGKE_000021" "g.54921456G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926564" "0" "30" "17" "54926042" "54926042" "subst" "6.16858E-5" "02327" "DGKE_000022" "g.54926042T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930821" "0" "50" "17" "54933967" "54933967" "subst" "4.07345E-6" "02327" "DGKE_000023" "g.54933967C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930822" "0" "50" "17" "54939158" "54939158" "subst" "0" "02327" "DGKE_000018" "g.54939158C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969087" "0" "30" "17" "54912391" "54912391" "subst" "0.000535897" "02326" "C17orf67_000007" "g.54912391C>G" "" "" "" "DGKE(NM_003647.2):c.235C>G (p.Q79E), DGKE(NM_003647.3):c.235C>G (p.Q79E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982631" "0" "30" "17" "54926525" "54926525" "dup" "0" "02327" "DGKE_000024" "g.54926525dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003437" "0" "50" "17" "54912391" "54912391" "subst" "0.000535897" "02327" "C17orf67_000007" "g.54912391C>G" "" "" "" "DGKE(NM_003647.2):c.235C>G (p.Q79E), DGKE(NM_003647.3):c.235C>G (p.Q79E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003438" "0" "50" "17" "54926558" "54926558" "subst" "0" "02327" "DGKE_000025" "g.54926558A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015571" "0" "30" "17" "54923038" "54923038" "subst" "0.000367851" "02326" "DGKE_000026" "g.54923038C>A" "" "" "" "DGKE(NM_003647.3):c.625-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041996" "0" "10" "17" "54912215" "54912215" "subst" "0.00329454" "01804" "C17orf67_000003" "g.54912215G>A" "" "" "" "DGKE(NM_003647.3):c.59G>A (p.(Gly20Glu), p.G20E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041997" "0" "50" "17" "54912322" "54912322" "subst" "2.45054E-5" "01804" "C17orf67_000009" "g.54912322C>T" "" "" "" "DGKE(NM_003647.3):c.166C>T (p.(Arg56Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 DGKE ## Count = 46 "{{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}}" "0000248697" "00006367" "10" "579" "0" "579" "0" "c.579A>C" "r.(?)" "p.(Thr193=)" "" "0000340993" "00006367" "10" "579" "0" "579" "0" "c.579A>C" "r.(?)" "p.(Thr193=)" "" "0000343739" "00006367" "50" "1154" "0" "1154" "0" "c.1154A>G" "r.(?)" "p.(Asn385Ser)" "" "0000438964" "00006367" "90" "494" "0" "494" "0" "c.494A>G" "r.(?)" "p.(Asp165Gly)" "" "0000562340" "00006367" "50" "-13" "0" "-13" "0" "c.-13G>A" "r.(?)" "p.(=)" "" "0000562341" "00006367" "30" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Pro12Leu)" "" "0000562342" "00006367" "10" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Pro12Leu)" "" "0000562343" "00006367" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Gly20Glu)" "" "0000562344" "00006367" "30" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Gln43=)" "" "0000562345" "00006367" "70" "178" "0" "178" "0" "c.178C>G" "r.(?)" "p.(His60Asp)" "" "0000562346" "00006367" "10" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Gly61=)" "" "0000562347" "00006367" "50" "465" "-3" "465" "-3" "c.465-3C>T" "r.spl?" "p.?" "" "0000562348" "00006367" "50" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Gly284Glu)" "" "0000562349" "00006367" "10" "888" "67" "888" "70" "c.888+67_888+70dup" "r.(=)" "p.(=)" "" "0000562350" "00006367" "10" "888" "69" "888" "70" "c.888+69_888+70dup" "r.(=)" "p.(=)" "" "0000562351" "00006367" "90" "1353" "0" "1353" "0" "c.1353C>A" "r.(?)" "p.(Tyr451Ter)" "" "0000616701" "00006367" "30" "235" "0" "235" "0" "c.235C>G" "r.(?)" "p.(Gln79Glu)" "" "0000616702" "00006367" "30" "798" "0" "798" "0" "c.798T>A" "r.(?)" "p.(Leu266=)" "" "0000616703" "00006367" "30" "1525" "-15" "1525" "-15" "c.1525-15G>A" "r.(=)" "p.(=)" "" "0000647296" "00006367" "70" "171" "0" "171" "0" "c.171del" "r.(?)" "p.(Ser58Alafs*111)" "2" "0000647297" "00006367" "70" "966" "0" "966" "0" "c.966G>A" "r.(?)" "p.(Trp322*)" "6" "0000658199" "00006367" "50" "465" "-3" "465" "-3" "c.465-3C>T" "r.spl?" "p.?" "" "0000658200" "00006367" "30" "1679" "0" "1679" "0" "c.1679A>G" "r.(?)" "p.(Gln560Arg)" "" "0000680931" "00006367" "50" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Thr218=)" "" "0000726526" "00006367" "30" "129" "0" "129" "0" "c.129G>A" "r.(?)" "p.(Gln43=)" "" "0000726527" "00006367" "30" "1406" "0" "1406" "0" "c.1406T>C" "r.(?)" "p.(Leu469Pro)" "" "0000763739" "00006367" "50" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Leu431Val)" "" "0000808120" "00006367" "50" "851" "0" "851" "0" "c.851G>A" "r.(?)" "p.(Gly284Glu)" "" "0000808121" "00006367" "30" "1679" "0" "1679" "0" "c.1679A>G" "r.(?)" "p.(Gln560Arg)" "" "0000855007" "00006367" "30" "1679" "0" "1679" "0" "c.1679A>G" "r.(?)" "p.(Gln560Arg)" "" "0000865374" "00006367" "30" "744" "17" "744" "17" "c.744+17del" "r.(=)" "p.(=)" "" "0000894048" "00006367" "30" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Gly20Glu)" "" "0000894049" "00006367" "30" "1440" "0" "1440" "0" "c.1440T>C" "r.(?)" "p.(Val480=)" "" "0000914900" "00006367" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(Ala85=)" "" "0000914901" "00006367" "30" "465" "-3" "465" "-3" "c.465-3C>T" "r.spl?" "p.?" "" "0000926563" "00006367" "90" "541" "0" "541" "0" "c.541G>T" "r.(?)" "p.(Glu181*)" "" "0000926564" "00006367" "30" "889" "-15" "889" "-15" "c.889-15T>C" "r.(=)" "p.(=)" "" "0000930821" "00006367" "50" "1193" "0" "1193" "0" "c.1193C>G" "r.(?)" "p.(Ser398Cys)" "" "0000930822" "00006367" "50" "1291" "0" "1291" "0" "c.1291C>G" "r.(?)" "p.(Leu431Val)" "" "0000969087" "00006367" "30" "235" "0" "235" "0" "c.235C>G" "r.(?)" "p.(Gln79Glu)" "" "0000982631" "00006367" "30" "1047" "-17" "1047" "-17" "c.1047-17dup" "r.(=)" "p.(=)" "" "0001003437" "00006367" "50" "235" "0" "235" "0" "c.235C>G" "r.(?)" "p.(Gln79Glu)" "" "0001003438" "00006367" "50" "1063" "0" "1063" "0" "c.1063A>T" "r.(?)" "p.(Thr355Ser)" "" "0001015571" "00006367" "30" "625" "-13" "625" "-13" "c.625-13C>A" "r.(=)" "p.(=)" "" "0001041996" "00006367" "10" "59" "0" "59" "0" "c.59G>A" "r.(?)" "p.(Gly20Glu)" "" "0001041997" "00006367" "50" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000208929" "0000438964" "0000290609" "0000647296" "0000290609" "0000647297" "0000363230" "0000763739"