### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DHPS) # 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}}" "DHPS" "deoxyhypusine synthase" "19" "p13.2" "unknown" "NC_000019.9" "UD_132457128636" "" "https://www.LOVD.nl/DHPS" "" "1" "2869" "1725" "600944" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DHPS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-02-12 23:08:24" "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}}" "00006384" "DHPS" "transcript variant 1" "003" "NM_001930.3" "" "NP_001921.1" "" "" "" "-121" "1231" "1110" "12792701" "12786531" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "06444" "NEDSSWI" "Neurodevelopmental disorder with seizures and speech and walking impairment" "AR" "618480" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DHPS" "06444" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00222898" "" "" "" "1" "" "00006" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "Belgium/France (father), England/Ireland (mother)" "30661771-Pat3" "00222956" "" "" "" "1" "" "00006" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "France/Europe East;Ireland/England" "30661771-Pat4" "00222957" "" "" "" "1" "" "00006" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "England;Slovakia (Slovak Republic)" "" "0" "" "" "" "30661771-Pat5" "00222958" "" "" "" "1" "" "00006" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "2-generation family, affected sister/brother, unaffected non-carrier parents" "F;M" "no" "Ireland;Scotland;Sweden" "" "0" "" "" "" "30661771-Fam1Pat1/2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00222898" "05162" "00222956" "05162" "00222957" "05162" "00222958" "05162" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05162, 06444 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000168018" "05162" "00222898" "00006" "Familial, autosomal recessive" "07y06m" "see paper; ..., developmental delay, focal seizures" "" "" "" "" "" "" "" "" "" "0000168071" "05162" "00222956" "00006" "Familial, autosomal recessive" "08y" "see paper; ..., global developmental delay, severe speech impairment, seizures, autism" "" "" "" "" "" "" "" "" "" "0000168072" "05162" "00222957" "00006" "Familial, autosomal recessive" "24y" "see paper; ..., intellectual disability, seizures, difficulty in ambulation due to abnormal muscle tone lower extremities, uses wheelchair" "" "" "" "" "" "" "" "" "" "0000168073" "05162" "00222958" "00006" "Familial, autosomal recessive" "" "see paper; ..., significant delay developmental milestones,\r\nintellectual disability, seizures" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000223969" "00222898" "1" "00006" "00006" "2019-02-12 23:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000224031" "00222956" "1" "00006" "00006" "2019-02-13 21:13:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000224032" "00222957" "1" "00006" "00006" "2019-02-13 21:25:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000224033" "00222958" "1" "00006" "00006" "2019-02-13 21:32:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000223969" "DHPS" "0000224031" "DHPS" "0000224032" "DHPS" "0000224033" "DHPS" ## 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 = 50 "{{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}}" "0000252456" "0" "70" "19" "12776515" "12776515" "subst" "0" "02326" "MAN2B1_000047" "g.12776515A>C" "" "" "" "MAN2B1(NM_000528.4):c.262+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665701A>C" "" "likely pathogenic" "" "0000279564" "0" "90" "19" "12776548" "12776548" "subst" "0" "02330" "MAN2B1_000048" "g.12776548C>T" "" "" "" "MAN2B1(NM_000528.4):c.231G>A (p.W77*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665734C>T" "" "pathogenic" "" "0000279569" "0" "10" "19" "12775617" "12775617" "subst" "0" "02330" "MAN2B1_000045" "g.12775617G>A" "" "" "" "MAN2B1(NM_000528.4):c.619C>T (p.L207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12664803G>A" "" "benign" "" "0000279570" "0" "10" "19" "12774532" "12774532" "subst" "0.00122562" "02330" "MAN2B1_000044" "g.12774532C>A" "" "" "" "MAN2B1(NM_000528.4):c.748G>T (p.A250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663718C>A" "" "benign" "" "0000279571" "0" "10" "19" "12774208" "12774208" "subst" "0.250847" "02330" "MAN2B1_000073" "g.12774208G>C" "" "" "" "MAN2B1(NM_000528.4):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663394G>C" "" "benign" "" "0000282368" "0" "10" "19" "12774208" "12774208" "subst" "0.250847" "02325" "MAN2B1_000073" "g.12774208G>C" "" "" "" "MAN2B1(NM_000528.4):c.832C>G (p.L278V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663394G>C" "" "benign" "" "0000291424" "0" "50" "19" "12776226" "12776226" "subst" "1.63179E-5" "01943" "MAN2B1_000046" "g.12776226G>A" "" "" "" "MAN2B1(NM_000528.3):c.376C>T (p.R126C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12665412G>A" "" "VUS" "" "0000291425" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "01943" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663382G>A" "" "likely benign" "" "0000326219" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "01804" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12663382G>A" "" "likely benign" "" "0000455742" "21" "90" "19" "12790510" "12790510" "subst" "5.685E-5" "00006" "DHPS_000001" "g.12790510T>C" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "" "" "Germline" "" "" "0" "" "" "g.12679696T>C" "" "pathogenic (recessive)" "" "0000455743" "11" "90" "19" "12786929" "12786934" "del" "0" "00006" "DHPS_000002" "g.12786929_12786934del" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "912_917delTTACAT" "" "Germline" "" "" "0" "" "" "g.12676115_12676120del" "" "pathogenic (recessive)" "" "0000456081" "11" "90" "19" "12786830" "12786830" "subst" "0.000415279" "00006" "DHPS_000003" "g.12786830C>T" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "" "" "Germline" "" "" "0" "" "" "g.12676016C>T" "" "pathogenic (recessive)" "" "0000456082" "21" "90" "19" "12790510" "12790510" "subst" "5.685E-5" "00006" "DHPS_000001" "g.12790510T>C" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "" "" "Germline" "" "" "0" "" "" "g.12679696T>C" "" "pathogenic (recessive)" "" "0000456083" "11" "90" "19" "12790510" "12790510" "subst" "5.685E-5" "00006" "DHPS_000001" "g.12790510T>C" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "" "" "Germline" "" "" "0" "" "" "g.12679696T>C" "" "pathogenic (recessive)" "" "0000456084" "21" "90" "19" "12792580" "12792580" "subst" "0" "00006" "DHPS_000004" "g.12792580T>C" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "" "" "Germline" "" "" "0" "" "" "g.12681766T>C" "" "pathogenic (recessive)" "" "0000456085" "21" "90" "19" "12790510" "12790510" "subst" "5.685E-5" "00006" "DHPS_000001" "g.12790510T>C" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12679696T>C" "" "pathogenic (recessive)" "" "0000456086" "11" "90" "19" "12786830" "12786830" "subst" "0.000415279" "00006" "DHPS_000003" "g.12786830C>T" "" "{PMID:Ganapathi 2019:30661771}, {DOI:Ganapathi 2019:10.1016/j.ajhg.2018.12.017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12676016C>T" "" "pathogenic (recessive)" "" "0000566117" "0" "10" "19" "12774533" "12774533" "subst" "0.0128581" "02330" "DHPS_000005" "g.12774533G>A" "" "" "" "MAN2B1(NM_000528.4):c.747C>T (p.T249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12663719G>A" "" "benign" "" "0000566118" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "01943" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12663723G>A" "" "likely benign" "" "0000566119" "0" "30" "19" "12775684" "12775684" "subst" "1.22195E-5" "01943" "DHPS_000007" "g.12775684G>T" "" "" "" "MAN2B1(NM_000528.3):c.552C>A (p.G184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12664870G>T" "" "likely benign" "" "0000658489" "0" "30" "19" "12790506" "12790506" "subst" "0.00926648" "01804" "DHPS_000009" "g.12790506C>G" "" "" "" "DHPS(NM_001206974.1):c.396G>C (p.(Glu132Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12679692C>G" "" "likely benign" "" "0000658490" "0" "50" "19" "12791874" "12791876" "del" "0" "01943" "DHPS_000010" "g.12791874_12791876del" "" "" "" "DHPS(NM_001206974.1):c.55_57delGAG (p.E19del), DHPS(NM_001206974.2):c.55_57del (p.(Glu19del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12681060_12681062del" "" "VUS" "" "0000692689" "0" "50" "19" "12786964" "12786982" "del" "0" "01943" "DHPS_000011" "g.12786964_12786982del" "" "" "" "DHPS(NM_001930.4):c.889-21_889-3delCGTGCCCCCGCCTCCCCAC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727128" "0" "90" "19" "12777451" "12777451" "subst" "1.36282E-5" "01943" "DHPS_000012" "g.12777451C>T" "" "" "" "MAN2B1(NM_000528.3):c.65G>A (p.W22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727129" "0" "30" "19" "12777497" "12777497" "subst" "0.000132772" "01943" "DHPS_000013" "g.12777497C>G" "" "" "" "MAN2B1(NM_000528.3):c.19G>C (p.A7P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727130" "0" "50" "19" "12791136" "12791136" "subst" "0.000195098" "02325" "DHPS_000014" "g.12791136C>T" "" "" "" "DHPS(NM_001930.4):c.211G>A (p.E71K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808675" "0" "50" "19" "12774217" "12774217" "subst" "2.84255E-5" "02325" "DHPS_000015" "g.12774217C>T" "" "" "" "MAN2B1(NM_000528.4):c.823G>A (p.D275N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808676" "0" "30" "19" "12776626" "12776626" "subst" "4.07375E-6" "01943" "DHPS_000016" "g.12776626A>G" "" "" "" "MAN2B1(NM_000528.3):c.160-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808677" "0" "30" "19" "12777468" "12777468" "subst" "2.06942E-5" "01943" "DHPS_000017" "g.12777468C>T" "" "" "" "MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808678" "0" "30" "19" "12786921" "12786921" "subst" "9.80881E-5" "01943" "DHPS_000018" "g.12786921T>C" "" "" "" "DHPS(NM_001930.4):c.924A>G (p.T308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865868" "0" "30" "19" "12774251" "12774251" "subst" "9.34526E-5" "01943" "DHPS_000019" "g.12774251C>T" "" "" "" "MAN2B1(NM_000528.3):c.789G>A (p.P263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865869" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "01804" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865870" "0" "50" "19" "12775781" "12775781" "subst" "0.000187237" "01804" "DHPS_000020" "g.12775781T>C" "" "" "" "MAN2B1(NM_000528.3):c.455A>G (p.(Asn152Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915128" "0" "30" "19" "12774536" "12774536" "subst" "8.26016E-5" "02326" "DHPS_000021" "g.12774536C>T" "" "" "" "MAN2B1(NM_000528.4):c.744G>A (p.P248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926810" "0" "30" "19" "12774196" "12774196" "subst" "0.00258264" "02326" "MAN2B1_000072" "g.12774196G>A" "" "" "" "MAN2B1(NM_000528.3):c.844C>T (p.P282S, p.(Pro282Ser)), MAN2B1(NM_000528.4):c.844C>T (p.P282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926811" "0" "30" "19" "12774261" "12774261" "subst" "1.21921E-5" "02326" "DHPS_000022" "g.12774261C>A" "" "" "" "MAN2B1(NM_000528.4):c.779G>T (p.G260V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926812" "0" "30" "19" "12777468" "12777468" "subst" "2.06942E-5" "02326" "DHPS_000017" "g.12777468C>T" "" "" "" "MAN2B1(NM_000528.3):c.48G>A (p.L16=), MAN2B1(NM_000528.4):c.48G>A (p.L16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926813" "0" "30" "19" "12780204" "12780204" "subst" "0.0159673" "01804" "DHPS_000023" "g.12780204T>C" "" "" "" "WDR83OS(NM_016145.3):c.14A>G (p.(Asn5Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926814" "0" "50" "19" "12791136" "12791136" "subst" "0.000195098" "02327" "DHPS_000014" "g.12791136C>T" "" "" "" "DHPS(NM_001930.4):c.211G>A (p.E71K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930999" "0" "70" "19" "12776514" "12776514" "subst" "0" "02326" "DHPS_000024" "g.12776514C>G" "" "" "" "MAN2B1(NM_000528.4):c.262+3G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000969557" "0" "30" "19" "12774537" "12774537" "subst" "0.00230696" "02326" "DHPS_000006" "g.12774537G>A" "" "" "" "MAN2B1(NM_000528.3):c.743C>T (p.P248L, p.(Pro248Leu)), MAN2B1(NM_000528.4):c.743C>T (p.P248L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983203" "0" "30" "19" "12790971" "12790971" "subst" "0.000109761" "01804" "DHPS_000025" "g.12790971C>T" "" "" "" "DHPS(NM_001930.4):c.372+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983204" "0" "50" "19" "12791874" "12791876" "del" "0" "01804" "DHPS_000010" "g.12791874_12791876del" "" "" "" "DHPS(NM_001206974.1):c.55_57delGAG (p.E19del), DHPS(NM_001206974.2):c.55_57del (p.(Glu19del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983205" "0" "30" "19" "12791893" "12791893" "subst" "0" "01804" "DHPS_000026" "g.12791893G>A" "" "" "" "DHPS(NM_001206974.2):c.35C>T (p.(Ala12Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004357" "0" "50" "19" "12774531" "12774531" "subst" "4.15856E-5" "01804" "DHPS_000027" "g.12774531G>A" "" "" "" "MAN2B1(NM_000528.3):c.749C>T (p.(Ala250Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042614" "0" "10" "19" "12774561" "12774561" "subst" "0.000707651" "01804" "DHPS_000028" "g.12774561C>T" "" "" "" "MAN2B1(NM_000528.4):c.719G>A (p.(Arg240Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001042615" "0" "50" "19" "12776600" "12776600" "subst" "2.03176E-5" "01804" "DHPS_000029" "g.12776600G>A" "" "" "" "MAN2B1(NM_000528.4):c.179C>T (p.(Pro60Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042616" "0" "50" "19" "12786623" "12786623" "subst" "2.78888E-5" "01804" "DHPS_000030" "g.12786623G>A" "" "" "" "DHPS(NM_001369691.1):c.1075C>T (p.(Pro359Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042617" "0" "30" "19" "12786879" "12786879" "subst" "8.13094E-6" "01804" "DHPS_000031" "g.12786879G>A" "" "" "" "DHPS(NM_001369691.1):c.902C>T (p.(Thr301Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042618" "0" "50" "19" "12791030" "12791030" "subst" "8.12117E-6" "01804" "DHPS_000032" "g.12791030T>C" "" "" "" "DHPS(NM_001930.4):c.317A>G (p.(Asn106Ser))" "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 DHPS ## Count = 50 "{{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}}" "0000252456" "00006384" "70" "11247" "0" "11247" "0" "c.*10137T>G" "r.(=)" "p.(=)" "" "0000279564" "00006384" "90" "11214" "0" "11214" "0" "c.*10104G>A" "r.(=)" "p.(=)" "" "0000279569" "00006384" "10" "12145" "0" "12145" "0" "c.*11035C>T" "r.(=)" "p.(=)" "" "0000279570" "00006384" "10" "13230" "0" "13230" "0" "c.*12120G>T" "r.(=)" "p.(=)" "" "0000279571" "00006384" "10" "13554" "0" "13554" "0" "c.*12444C>G" "r.(=)" "p.(=)" "" "0000282368" "00006384" "10" "13554" "0" "13554" "0" "c.*12444C>G" "r.(=)" "p.(=)" "" "0000291424" "00006384" "50" "11536" "0" "11536" "0" "c.*10426C>T" "r.(=)" "p.(=)" "" "0000291425" "00006384" "30" "13566" "0" "13566" "0" "c.*12456C>T" "r.(=)" "p.(=)" "" "0000326219" "00006384" "30" "13566" "0" "13566" "0" "c.*12456C>T" "r.(=)" "p.(=)" "" "0000455742" "00006384" "90" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.(Asn173Ser)" "" "0000455743" "00006384" "90" "912" "0" "917" "0" "c.912_917del" "r.(?)" "p.(Tyr305_Ile306del)" "" "0000456081" "00006384" "90" "1014" "1" "1014" "1" "c.1014+1G>A" "r.spl" "p.?" "" "0000456082" "00006384" "90" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.(Asn173Ser)" "" "0000456083" "00006384" "90" "518" "0" "518" "0" "c.518A>G" "r.(?)" "p.(Asn173Ser)" "" "0000456084" "00006384" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000456085" "00006384" "90" "518" "0" "518" "0" "c.518A>G" "r.518a>g" "p.Asn173Ser" "" "0000456086" "00006384" "90" "1014" "1" "1014" "1" "c.1014+1G>A" "r.785_1014del" "p.Asp262Glyfs*3" "8i" "0000566117" "00006384" "10" "13229" "0" "13229" "0" "c.*12119C>T" "r.(=)" "p.(=)" "" "0000566118" "00006384" "30" "13225" "0" "13225" "0" "c.*12115C>T" "r.(=)" "p.(=)" "" "0000566119" "00006384" "30" "12078" "0" "12078" "0" "c.*10968C>A" "r.(=)" "p.(=)" "" "0000658489" "00006384" "30" "522" "0" "522" "0" "c.522G>C" "r.(?)" "p.(Glu174Asp)" "" "0000658490" "00006384" "50" "207" "501" "207" "503" "c.207+501_207+503del" "r.(=)" "p.(=)" "" "0000692689" "00006384" "50" "889" "-21" "889" "-3" "c.889-21_889-3del" "r.spl?" "p.?" "" "0000727128" "00006384" "90" "10311" "0" "10311" "0" "c.*9201G>A" "r.(=)" "p.(=)" "" "0000727129" "00006384" "30" "10265" "0" "10265" "0" "c.*9155G>C" "r.(=)" "p.(=)" "" "0000727130" "00006384" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "" "0000808675" "00006384" "50" "13545" "0" "13545" "0" "c.*12435G>A" "r.(=)" "p.(=)" "" "0000808676" "00006384" "30" "11136" "0" "11136" "0" "c.*10026T>C" "r.(=)" "p.(=)" "" "0000808677" "00006384" "30" "10294" "0" "10294" "0" "c.*9184G>A" "r.(=)" "p.(=)" "" "0000808678" "00006384" "30" "924" "0" "924" "0" "c.924A>G" "r.(?)" "p.(Thr308=)" "" "0000865868" "00006384" "30" "13511" "0" "13511" "0" "c.*12401G>A" "r.(=)" "p.(=)" "" "0000865869" "00006384" "30" "13225" "0" "13225" "0" "c.*12115C>T" "r.(=)" "p.(=)" "" "0000865870" "00006384" "50" "11981" "0" "11981" "0" "c.*10871A>G" "r.(=)" "p.(=)" "" "0000915128" "00006384" "30" "13226" "0" "13226" "0" "c.*12116G>A" "r.(=)" "p.(=)" "" "0000926810" "00006384" "30" "13566" "0" "13566" "0" "c.*12456C>T" "r.(=)" "p.(=)" "" "0000926811" "00006384" "30" "13501" "0" "13501" "0" "c.*12391G>T" "r.(=)" "p.(=)" "" "0000926812" "00006384" "30" "10294" "0" "10294" "0" "c.*9184G>A" "r.(=)" "p.(=)" "" "0000926813" "00006384" "30" "7558" "0" "7558" "0" "c.*6448A>G" "r.(=)" "p.(=)" "" "0000926814" "00006384" "50" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "" "0000930999" "00006384" "70" "11248" "0" "11248" "0" "c.*10138G>C" "r.(=)" "p.(=)" "" "0000969557" "00006384" "30" "13225" "0" "13225" "0" "c.*12115C>T" "r.(=)" "p.(=)" "" "0000983203" "00006384" "30" "372" "4" "372" "4" "c.372+4G>A" "r.spl?" "p.?" "" "0000983204" "00006384" "50" "207" "501" "207" "503" "c.207+501_207+503del" "r.(=)" "p.(=)" "" "0000983205" "00006384" "30" "207" "481" "207" "481" "c.207+481C>T" "r.(=)" "p.(=)" "" "0001004357" "00006384" "50" "13231" "0" "13231" "0" "c.*12121C>T" "r.(=)" "p.(=)" "" "0001042614" "00006384" "10" "13201" "0" "13201" "0" "c.*12091G>A" "r.(=)" "p.(=)" "" "0001042615" "00006384" "50" "11162" "0" "11162" "0" "c.*10052C>T" "r.(=)" "p.(=)" "" "0001042616" "00006384" "50" "1139" "0" "1139" "0" "c.*29C>T" "r.(=)" "p.(=)" "" "0001042617" "00006384" "30" "966" "0" "966" "0" "c.966C>T" "r.(?)" "p.(=)" "" "0001042618" "00006384" "50" "317" "0" "317" "0" "c.317A>G" "r.(?)" "p.(Asn106Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000223969" "0000455742" "0000223969" "0000455743" "0000224031" "0000456081" "0000224031" "0000456082" "0000224032" "0000456083" "0000224032" "0000456084" "0000224033" "0000456085" "0000224033" "0000456086"