### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PSMB10) # 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}}" "PSMB10" "proteasome (prosome, macropain) subunit, beta type, 10" "16" "q22.1" "unknown" "NC_000016.9" "UD_136090353562" "" "https://www.LOVD.nl/PSMB10" "" "1" "9538" "5699" "176847" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-05-02 18:59:31" "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}}" "00017031" "PSMB10" "proteasome (prosome, macropain) subunit, beta type, 10" "001" "NM_002801.3" "" "NP_002792.1" "" "" "" "-128" "878" "822" "67970780" "67968407" "" "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}}" "05608" "SCID" "immunodeficiency, severe combined (SCID)" "" "" "" "" "" "00006" "2019-06-06 16:10:12" "" "" "07077" "PRAAS5" "proteasome-associated autoinflammatory syndrome, type 5" "AR" "619175" "" "" "" "00006" "2024-05-02 18:32:05" "" "" "07078" "PRAAS" "proteasome-associated autoinflammatory syndrome" "" "" "" "" "" "00006" "2024-05-02 18:34:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PSMB10" "07077" "PSMB10" "07078" ## 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}}" "00449695" "" "" "" "1" "" "00006" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe" "Pat1" "00449696" "" "" "" "1" "" "00006" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "2y" "0" "" "" "Jew-Sepharadic" "Pat2" "00449697" "" "" "" "1" "" "00006" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "16y" "0" "" "" "Europe" "Pat3" "00449698" "" "" "" "1" "" "00006" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "77d" "0" "" "" "Europe" "Pat4" "00449699" "" "" "" "1" "" "00006" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "4y" "0" "" "" "Europe" "Pat5" "00449700" "" "" "" "1" "" "00006" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Europe" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00449695" "05608" "00449696" "05608" "00449697" "05608" "00449698" "05608" "00449699" "05608" "00449700" "05608" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05608, 07077, 07078 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000338866" "05608" "00449695" "00006" "Isolated (sporadic)" "18y" "see paper; ..., failure to thrive; diarrhea; <7d-skin rash; recurrent infections; no systemic inflammation; no hepatomegaly; lymphadenopathy; alopecia; dysmorphic (overfolded helices, hypoplasia alea nasi, cone-shaped teeth, hypodontia); 12w-hematopoietic stem cell transplantation" "" "" "" "" "" "" "" "SCID-Omenn syndrome" "0000338867" "05608" "00449696" "00006" "Isolated (sporadic)" "2y" "see paper; ..., 2y-deceased; failure to thrive; diarrhea; 14d-skin rash; recurrent infections; systemic inflammation; no hepatomegaly; no lymphadenopathy; alopecia; mild dysmorphic facial features (protruding ears, pointed chin), adducted left thumb, hypospadias, micropenis, dysplastic nails; 130w-hematopoietic stem cell transplantation" "" "" "" "" "" "" "" "SCID-Omenn syndrome" "0000338868" "05608" "00449697" "00006" "Isolated (sporadic)" "6y" "see paper; ..., 16y-deceased; failure to thrive; diarrhea; 21d-skin rash; recurrent infections; no systemic inflammation; hepatomegaly; no lymphadenopathy; alopecia; no dysmorphism; 11w-hematopoietic stem cell transplantation" "" "" "" "" "" "" "" "SCID-Omenn syndrome" "0000338869" "05608" "00449698" "00006" "Isolated (sporadic)" "13y" "see paper; ..., 11w-deceased; failure to thrive; diarrhea; 7d-skin rash; recurrent infections; no systemic inflammation; hepatomegaly; no lymphadenopathy; alopecia; no dysmorphism; 16w-hematopoietic stem cell transplantation" "" "" "" "" "" "" "" "SCID-Omenn syndrome" "0000338870" "05608" "00449699" "00006" "Isolated (sporadic)" "4y" "see paper; ..., 4y-deceased; failure to thrive; diarrhea; 56d-skin rash; recurrent infections; no systemic inflammation; no hepatomegaly; lymphadenopathy; no dysmorphism; 12w-hematopoietic stem cell transplantation" "" "" "" "" "" "" "" "SCID-Omenn syndrome" "0000338871" "05608" "00449700" "00006" "Isolated (sporadic)" "1y" "see paper; ..., no failure to thrive; diarrhea; <7d-skin rash; no recurrent infections; no systemic inflammation; no hepatomegaly; no lymphadenopathy; no alopecia; no dysmorphism; 9w-hematopoietic stem cell transplantation" "" "" "" "" "" "" "" "SCID-Omenn syndrome" ## 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}}" "0000451286" "00449695" "1" "00006" "00006" "2024-05-02 19:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000451287" "00449696" "1" "00006" "00006" "2024-05-02 19:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000451288" "00449697" "1" "00006" "00006" "2024-05-02 19:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451289" "00449698" "1" "00006" "00006" "2024-05-02 19:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451290" "00449699" "1" "00006" "00006" "2024-05-02 19:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451291" "00449700" "1" "00006" "00006" "2024-05-02 19:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 71 "{{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}}" "0000278763" "0" "10" "16" "67974074" "67974074" "subst" "0" "02330" "LCAT_000103" "g.67974074G>A" "" "" "" "LCAT(NM_000229.2):c.1056C>T (p.D352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940171G>A" "" "benign" "" "0000278764" "0" "30" "16" "67973998" "67973998" "subst" "0.00116827" "02330" "LCAT_000102" "g.67973998C>T" "" "" "" "LCAT(NM_000229.2):c.1132G>A (p.E378K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940095C>T" "" "likely benign" "" "0000278778" "0" "10" "16" "67974344" "67974344" "subst" "2.45596E-5" "02330" "LCAT_000111" "g.67974344C>T" "" "" "" "LCAT(NM_000229.2):c.786G>A (p.K262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940441C>T" "" "benign" "" "0000278779" "0" "50" "16" "67974321" "67974321" "subst" "8.165E-6" "02330" "LCAT_000110" "g.67974321G>A" "" "" "" "LCAT(NM_000229.2):c.809C>T (p.T270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940418G>A" "" "VUS" "" "0000278780" "0" "70" "16" "67974309" "67974309" "subst" "0" "02330" "LCAT_000109" "g.67974309G>A" "" "" "" "LCAT(NM_000229.2):c.821C>T (p.P274L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940406G>A" "" "likely pathogenic" "" "0000278781" "0" "30" "16" "67974251" "67974251" "subst" "0.000117791" "02330" "LCAT_000108" "g.67974251G>A" "" "" "" "LCAT(NM_000229.2):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940348G>A" "" "likely benign" "" "0000278782" "0" "30" "16" "67974231" "67974231" "subst" "0.000105593" "02330" "LCAT_000107" "g.67974231C>T" "" "" "" "LCAT(NM_000229.2):c.899G>A (p.R300H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940328C>T" "" "likely benign" "" "0000278783" "0" "70" "16" "67974166" "67974166" "subst" "2.03067E-5" "02330" "LCAT_000106" "g.67974166G>A" "" "" "" "LCAT(NM_000229.2):c.964C>T (p.R322C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940263G>A" "" "likely pathogenic" "" "0000278784" "0" "30" "16" "67974149" "67974149" "subst" "2.43758E-5" "02330" "LCAT_000105" "g.67974149T>G" "" "" "" "LCAT(NM_000229.2):c.981A>C (p.G327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67940246T>G" "" "likely benign" "" "0000324839" "0" "50" "16" "67964335" "67964335" "subst" "3.25301E-5" "01804" "CTRL_000002" "g.67964335C>T" "" "" "" "CTRL(NM_001907.2):c.475G>A (p.(Gly159Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67930432C>T" "" "VUS" "" "0000324840" "0" "50" "16" "67964637" "67964637" "subst" "2.43677E-5" "01804" "CTRL_000003" "g.67964637C>G" "" "" "" "CTRL(NM_001907.2):c.310G>C (p.(Val104Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67930734C>G" "" "VUS" "" "0000324841" "0" "50" "16" "67970317" "67970317" "del" "0" "01804" "PSMB10_000001" "g.67970317del" "" "" "" "PSMB10(NM_002801.3):c.128delC (p.(Ala43GlyfsTer45))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.67936414del" "" "VUS" "" "0000558759" "0" "30" "16" "67973789" "67973789" "subst" "5.36809E-5" "02330" "LCAT_000134" "g.67973789G>A" "" "" "" "LCAT(NM_000229.2):c.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67939886G>A" "" "likely benign" "" "0000558760" "0" "30" "16" "67973820" "67973820" "subst" "0.000126462" "02330" "LCAT_000135" "g.67973820G>A" "" "" "" "LCAT(NM_000229.2):c.1310C>T (p.P437L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67939917G>A" "" "likely benign" "" "0000558761" "0" "50" "16" "67973944" "67973944" "subst" "4.06283E-6" "02330" "LCAT_000136" "g.67973944G>C" "" "" "" "LCAT(NM_000229.2):c.1186C>G (p.L396V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940041G>C" "" "VUS" "" "0000558762" "0" "10" "16" "67973953" "67973953" "subst" "0.0481657" "02330" "LCAT_000137" "g.67973953G>A" "" "" "" "LCAT(NM_000229.2):c.1177C>T (p.L393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940050G>A" "" "benign" "" "0000558763" "0" "30" "16" "67973987" "67973987" "subst" "0" "02330" "LCAT_000138" "g.67973987G>C" "" "" "" "LCAT(NM_000229.2):c.1143C>G (p.G381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940084G>C" "" "likely benign" "" "0000558764" "0" "50" "16" "67974052" "67974052" "subst" "6.90945E-5" "02330" "LCAT_000139" "g.67974052G>T" "" "" "" "LCAT(NM_000229.2):c.1078C>A (p.P360T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940149G>T" "" "VUS" "" "0000558765" "0" "90" "16" "67974096" "67974096" "subst" "8.17521E-6" "02330" "LCAT_000140" "g.67974096G>A" "" "" "" "LCAT(NM_000229.2):c.1034C>T (p.T345M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940193G>A" "" "pathogenic" "" "0000558766" "0" "30" "16" "67974236" "67974236" "subst" "0" "02330" "LCAT_000141" "g.67974236T>C" "" "" "" "LCAT(NM_000229.2):c.894A>G (p.T298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940333T>C" "" "likely benign" "" "0000558767" "0" "30" "16" "67974269" "67974269" "subst" "6.50333E-5" "02330" "LCAT_000142" "g.67974269G>A" "" "" "" "LCAT(NM_000229.2):c.861C>T (p.H287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940366G>A" "" "likely benign" "" "0000558768" "0" "10" "16" "67974758" "67974758" "del" "0" "02330" "LCAT_000143" "g.67974758del" "" "" "" "LCAT(NM_000229.2):c.749-358delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940855del" "" "benign" "" "0000616077" "0" "50" "16" "67964622" "67964623" "ins" "2.03131E-5" "01804" "CTRL_000004" "g.67964622_67964623insG" "" "" "" "CTRL(NM_001907.2):c.318+6_318+7insC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67930719_67930720insG" "" "VUS" "" "0000616078" "0" "50" "16" "67964625" "67964626" "del" "0" "01804" "CTRL_000005" "g.67964625_67964626del" "" "" "" "CTRL(NM_001907.2):c.318+4_318+5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67930722_67930723del" "" "VUS" "" "0000616079" "0" "50" "16" "67964628" "67964628" "subst" "3.25018E-5" "01804" "CTRL_000006" "g.67964628C>G" "" "" "" "CTRL(NM_001907.2):c.318+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67930725C>G" "" "VUS" "" "0000616080" "0" "50" "16" "67974113" "67974113" "subst" "6.1188E-5" "02330" "LCAT_000170" "g.67974113G>A" "" "" "" "LCAT(NM_000229.2):c.1017C>T (p.Y339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940210G>A" "" "VUS" "" "0000616081" "0" "50" "16" "67974195" "67974195" "subst" "0" "02330" "LCAT_000171" "g.67974195T>C" "" "" "" "LCAT(NM_000229.2):c.935A>G (p.E312G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940292T>C" "" "VUS" "" "0000657905" "0" "50" "16" "67974219" "67974219" "subst" "0" "02330" "LCAT_000180" "g.67974219C>T" "" "" "" "LCAT(NM_000229.2):c.911G>A (p.R304H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67940316C>T" "" "VUS" "" "0000680630" "0" "30" "16" "67974158" "67974158" "subst" "0" "02330" "LCAT_000183" "g.67974158G>A" "" "" "" "LCAT(NM_000229.2):c.972C>T (p.L324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725904" "0" "30" "16" "67973788" "67973788" "subst" "0" "02330" "LCAT_000186" "g.67973788C>T" "" "" "" "LCAT(NM_000229.2):c.*19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725905" "0" "50" "16" "67974030" "67974030" "subst" "0" "02330" "LCAT_000187" "g.67974030T>C" "" "" "" "LCAT(NM_000229.2):c.1100A>G (p.D367G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725906" "0" "30" "16" "67974251" "67974251" "subst" "0.000117791" "02326" "LCAT_000108" "g.67974251G>A" "" "" "" "LCAT(NM_000229.2):c.879C>T (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807515" "0" "70" "16" "67974117" "67974117" "subst" "0" "02330" "LCAT_000192" "g.67974117A>T" "" "" "" "LCAT(NM_000229.2):c.1013T>A (p.L338H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807516" "0" "30" "16" "67974134" "67974134" "subst" "0" "02330" "LCAT_000193" "g.67974134A>G" "" "" "" "LCAT(NM_000229.2):c.996T>C (p.G332=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807517" "0" "10" "16" "67974755" "67974758" "del" "0" "02330" "LCAT_000194" "g.67974755_67974758del" "" "" "" "LCAT(NM_000229.2):c.749-361_749-358delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854587" "0" "50" "16" "67973896" "67973896" "subst" "1.62501E-5" "02330" "LCAT_000204" "g.67973896C>T" "" "" "" "LCAT(NM_000229.2):c.1234G>A (p.E412K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854588" "0" "30" "16" "67974257" "67974257" "subst" "0" "02330" "LCAT_000205" "g.67974257G>C" "" "" "" "LCAT(NM_000229.2):c.873C>G (p.S291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864893" "0" "50" "16" "67973803" "67973803" "subst" "3.68327E-5" "02330" "LCAT_000203" "g.67973803G>T" "" "" "" "LCAT(NM_000229.2):c.*4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864894" "0" "10" "16" "67974757" "67974758" "del" "0" "02330" "LCAT_000206" "g.67974757_67974758del" "" "" "" "LCAT(NM_000229.2):c.749-359_749-358delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000893121" "0" "30" "16" "67974017" "67974017" "subst" "4.47449E-5" "02330" "LCAT_000213" "g.67974017C>T" "" "" "" "LCAT(NM_000229.2):c.1113G>A (p.T371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893122" "0" "50" "16" "67974098" "67974104" "del" "0" "02330" "LCAT_000214" "g.67974098_67974104del" "" "" "" "LCAT(NM_000229.2):c.1026_1032delCCTGCCC (p.L343Rfs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893123" "0" "50" "16" "67974109" "67974109" "subst" "6.11651E-5" "02330" "LCAT_000215" "g.67974109C>T" "" "" "" "LCAT(NM_000229.2):c.1021G>A (p.V341M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893124" "0" "30" "16" "67974227" "67974227" "subst" "0.000166504" "02330" "LCAT_000216" "g.67974227G>A" "" "" "" "LCAT(NM_000229.2):c.903C>T (p.D301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893125" "0" "30" "16" "67974314" "67974314" "subst" "4.07624E-6" "02330" "LCAT_000217" "g.67974314G>A" "" "" "" "LCAT(NM_000229.2):c.816C>T (p.T272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914665" "0" "30" "16" "67973957" "67973957" "subst" "8.12896E-6" "02330" "LCAT_000221" "g.67973957C>T" "" "" "" "LCAT(NM_000229.2):c.1173G>A (p.V391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914666" "0" "50" "16" "67973973" "67973973" "subst" "2.55796E-5" "02330" "LCAT_000222" "g.67973973C>T" "" "" "" "LCAT(NM_000229.2):c.1157G>A (p.R386H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926322" "0" "50" "16" "67973938" "67973938" "subst" "3.25034E-5" "02330" "LCAT_000225" "g.67973938C>T" "" "" "" "LCAT(NM_000229.2):c.1192G>A (p.G398R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926323" "0" "30" "16" "67974095" "67974095" "subst" "3.71839E-5" "02330" "LCAT_000226" "g.67974095C>T" "" "" "" "LCAT(NM_000229.2):c.1035G>A (p.T345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926324" "0" "30" "16" "67974101" "67974101" "subst" "0" "02330" "LCAT_000227" "g.67974101C>G" "" "" "" "LCAT(NM_000229.2):c.1029G>C (p.L343=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926325" "0" "90" "16" "67974133" "67974133" "subst" "4.06415E-6" "02330" "LCAT_000228" "g.67974133C>T" "" "" "" "LCAT(NM_000229.2):c.997G>A (p.V333M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930638" "0" "30" "16" "67973993" "67973993" "subst" "4.07173E-6" "02330" "LCAT_000231" "g.67973993G>A" "" "" "" "LCAT(NM_000229.2):c.1137C>T (p.L379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930639" "0" "70" "16" "67974327" "67974327" "subst" "3.67746E-5" "02330" "LCAT_000232" "g.67974327C>T" "" "" "" "LCAT(NM_000229.2):c.803G>A (p.R268H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000968450" "0" "50" "16" "67974325" "67974325" "subst" "0" "02330" "LCAT_000237" "g.67974325T>C" "" "" "" "LCAT(NM_000229.2):c.805A>G (p.I269V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981997" "0" "50" "16" "67974058" "67974058" "subst" "0" "02330" "LCAT_000240" "g.67974058T>C" "" "" "" "LCAT(NM_000229.2):c.1072A>G (p.T358A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981998" "0" "90" "16" "67974303" "67974303" "subst" "0" "02330" "LCAT_000241" "g.67974303A>T" "" "" "" "LCAT(NM_000229.2):c.827T>A (p.M276K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985115" "0" "90" "16" "67968809" "67968809" "subst" "0" "00006" "PSMB10_000002" "g.67968809C>T" "" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.67934906C>T" "" "pathogenic (dominant)" "" "0000985116" "0" "90" "16" "67968809" "67968809" "subst" "0" "00006" "PSMB10_000002" "g.67968809C>T" "" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.67934906C>T" "" "pathogenic (dominant)" "" "0000985117" "0" "90" "16" "67968809" "67968809" "subst" "0" "00006" "PSMB10_000003" "g.67968809C>G" "" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.67934906C>G" "" "pathogenic (dominant)" "" "0000985118" "0" "90" "16" "67968809" "67968809" "subst" "0" "00006" "PSMB10_000002" "g.67968809C>T" "" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.67934906C>T" "" "pathogenic (dominant)" "" "0000985119" "0" "90" "16" "67970194" "67970194" "subst" "0" "00006" "PSMB10_000004" "g.67970194C>G" "" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.67936291C>G" "" "pathogenic (dominant)" "" "0000985120" "0" "90" "16" "67968809" "67968809" "subst" "0" "00006" "PSMB10_000002" "g.67968809C>T" "" "{PMID:van der Made 2024:38503300}, {DOI:van der Made 2024:10.1016/j.ajhg.2024.02.013}" "" "" "" "De novo" "" "" "0" "" "" "g.67934906C>T" "" "pathogenic (dominant)" "" "0001002490" "0" "50" "16" "67969976" "67969977" "ins" "0" "01804" "CTRL_000007" "g.67969976_67969977insTA" "" "" "" "PSMB10(NM_002801.3):c.272_273insTA (p.(Glu92fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015411" "0" "70" "16" "67973962" "67973962" "subst" "6.10864E-5" "02330" "LCAT_000248" "g.67973962G>A" "" "" "" "LCAT(NM_000229.2):c.1168C>T (p.P390S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001015412" "0" "30" "16" "67973999" "67973999" "subst" "1.22116E-5" "02330" "LCAT_000249" "g.67973999G>A" "" "" "" "LCAT(NM_000229.2):c.1131C>T (p.T377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015413" "0" "30" "16" "67974296" "67974296" "subst" "0" "02330" "LCAT_000250" "g.67974296G>A" "" "" "" "LCAT(NM_000229.2):c.834C>T (p.P278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026736" "0" "30" "16" "67973819" "67973819" "subst" "0" "02330" "LCAT_000252" "g.67973819C>T" "" "" "" "LCAT(NM_000229.2):c.1311G>A (p.P437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026737" "0" "50" "16" "67974002" "67974002" "subst" "0" "02330" "LCAT_000253" "g.67974002G>T" "" "" "" "LCAT(NM_000229.2):c.1128C>A (p.S376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026738" "0" "50" "16" "67974003" "67974003" "subst" "0" "02330" "LCAT_000254" "g.67974003C>T" "" "" "" "LCAT(NM_000229.2):c.1127G>A (p.S376N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026739" "0" "50" "16" "67974204" "67974204" "subst" "0" "02330" "LCAT_000255" "g.67974204A>G" "" "" "" "LCAT(NM_000229.2):c.926T>C (p.L309P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041264" "0" "50" "16" "67974002" "67974002" "subst" "0" "02325" "LCAT_000253" "g.67974002G>T" "" "" "" "LCAT(NM_000229.2):c.1128C>A (p.S376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041265" "0" "50" "16" "67974003" "67974003" "subst" "0" "02325" "LCAT_000254" "g.67974003C>T" "" "" "" "LCAT(NM_000229.2):c.1127G>A (p.S376N)" "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 PSMB10 ## Count = 71 "{{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}}" "0000278763" "00017031" "10" "-3422" "0" "-3422" "0" "c.-3422C>T" "r.(?)" "p.(=)" "" "0000278764" "00017031" "30" "-3346" "0" "-3346" "0" "c.-3346G>A" "r.(?)" "p.(=)" "" "0000278778" "00017031" "10" "-3692" "0" "-3692" "0" "c.-3692G>A" "r.(?)" "p.(=)" "" "0000278779" "00017031" "50" "-3669" "0" "-3669" "0" "c.-3669C>T" "r.(?)" "p.(=)" "" "0000278780" "00017031" "70" "-3657" "0" "-3657" "0" "c.-3657C>T" "r.(?)" "p.(=)" "" "0000278781" "00017031" "30" "-3599" "0" "-3599" "0" "c.-3599C>T" "r.(?)" "p.(=)" "" "0000278782" "00017031" "30" "-3579" "0" "-3579" "0" "c.-3579G>A" "r.(?)" "p.(=)" "" "0000278783" "00017031" "70" "-3514" "0" "-3514" "0" "c.-3514C>T" "r.(?)" "p.(=)" "" "0000278784" "00017031" "30" "-3497" "0" "-3497" "0" "c.-3497A>C" "r.(?)" "p.(=)" "" "0000324839" "00017031" "50" "4950" "0" "4950" "0" "c.*4128G>A" "r.(=)" "p.(=)" "" "0000324840" "00017031" "50" "4648" "0" "4648" "0" "c.*3826G>C" "r.(=)" "p.(=)" "" "0000324841" "00017031" "50" "128" "0" "128" "0" "c.128del" "r.(?)" "p.(Ala43GlyfsTer45)" "" "0000558759" "00017031" "30" "-3137" "0" "-3137" "0" "c.-3137C>T" "r.(?)" "p.(=)" "" "0000558760" "00017031" "30" "-3168" "0" "-3168" "0" "c.-3168C>T" "r.(?)" "p.(=)" "" "0000558761" "00017031" "50" "-3292" "0" "-3292" "0" "c.-3292C>G" "r.(?)" "p.(=)" "" "0000558762" "00017031" "10" "-3301" "0" "-3301" "0" "c.-3301C>T" "r.(?)" "p.(=)" "" "0000558763" "00017031" "30" "-3335" "0" "-3335" "0" "c.-3335C>G" "r.(?)" "p.(=)" "" "0000558764" "00017031" "50" "-3400" "0" "-3400" "0" "c.-3400C>A" "r.(?)" "p.(=)" "" "0000558765" "00017031" "90" "-3444" "0" "-3444" "0" "c.-3444C>T" "r.(?)" "p.(=)" "" "0000558766" "00017031" "30" "-3584" "0" "-3584" "0" "c.-3584A>G" "r.(?)" "p.(=)" "" "0000558767" "00017031" "30" "-3617" "0" "-3617" "0" "c.-3617C>T" "r.(?)" "p.(=)" "" "0000558768" "00017031" "10" "-4087" "0" "-4087" "0" "c.-4087del" "r.(?)" "p.(=)" "" "0000616077" "00017031" "50" "4662" "0" "4663" "0" "c.*3840_*3841insC" "r.(=)" "p.(=)" "" "0000616078" "00017031" "50" "4660" "0" "4661" "0" "c.*3838_*3839del" "r.(=)" "p.(=)" "" "0000616079" "00017031" "50" "4657" "0" "4657" "0" "c.*3835G>C" "r.(=)" "p.(=)" "" "0000616080" "00017031" "50" "-3461" "0" "-3461" "0" "c.-3461C>T" "r.(?)" "p.(=)" "" "0000616081" "00017031" "50" "-3543" "0" "-3543" "0" "c.-3543A>G" "r.(?)" "p.(=)" "" "0000657905" "00017031" "50" "-3567" "0" "-3567" "0" "c.-3567G>A" "r.(?)" "p.(=)" "" "0000680630" "00017031" "30" "-3506" "0" "-3506" "0" "c.-3506C>T" "r.(?)" "p.(=)" "" "0000725904" "00017031" "30" "-3136" "0" "-3136" "0" "c.-3136G>A" "r.(?)" "p.(=)" "" "0000725905" "00017031" "50" "-3378" "0" "-3378" "0" "c.-3378A>G" "r.(?)" "p.(=)" "" "0000725906" "00017031" "30" "-3599" "0" "-3599" "0" "c.-3599C>T" "r.(?)" "p.(=)" "" "0000807515" "00017031" "70" "-3465" "0" "-3465" "0" "c.-3465T>A" "r.(?)" "p.(=)" "" "0000807516" "00017031" "30" "-3482" "0" "-3482" "0" "c.-3482T>C" "r.(?)" "p.(=)" "" "0000807517" "00017031" "10" "-4090" "0" "-4087" "0" "c.-4090_-4087del" "r.(?)" "p.(=)" "" "0000854587" "00017031" "50" "-3244" "0" "-3244" "0" "c.-3244G>A" "r.(?)" "p.(=)" "" "0000854588" "00017031" "30" "-3605" "0" "-3605" "0" "c.-3605C>G" "r.(?)" "p.(=)" "" "0000864893" "00017031" "50" "-3151" "0" "-3151" "0" "c.-3151C>A" "r.(?)" "p.(=)" "" "0000864894" "00017031" "10" "-4088" "0" "-4087" "0" "c.-4088_-4087del" "r.(?)" "p.(=)" "" "0000893121" "00017031" "30" "-3365" "0" "-3365" "0" "c.-3365G>A" "r.(?)" "p.(=)" "" "0000893122" "00017031" "50" "-3452" "0" "-3446" "0" "c.-3452_-3446del" "r.(?)" "p.(=)" "" "0000893123" "00017031" "50" "-3457" "0" "-3457" "0" "c.-3457G>A" "r.(?)" "p.(=)" "" "0000893124" "00017031" "30" "-3575" "0" "-3575" "0" "c.-3575C>T" "r.(?)" "p.(=)" "" "0000893125" "00017031" "30" "-3662" "0" "-3662" "0" "c.-3662C>T" "r.(?)" "p.(=)" "" "0000914665" "00017031" "30" "-3305" "0" "-3305" "0" "c.-3305G>A" "r.(?)" "p.(=)" "" "0000914666" "00017031" "50" "-3321" "0" "-3321" "0" "c.-3321G>A" "r.(?)" "p.(=)" "" "0000926322" "00017031" "50" "-3286" "0" "-3286" "0" "c.-3286G>A" "r.(?)" "p.(=)" "" "0000926323" "00017031" "30" "-3443" "0" "-3443" "0" "c.-3443G>A" "r.(?)" "p.(=)" "" "0000926324" "00017031" "30" "-3449" "0" "-3449" "0" "c.-3449G>C" "r.(?)" "p.(=)" "" "0000926325" "00017031" "90" "-3481" "0" "-3481" "0" "c.-3481G>A" "r.(?)" "p.(=)" "" "0000930638" "00017031" "30" "-3341" "0" "-3341" "0" "c.-3341C>T" "r.(?)" "p.(=)" "" "0000930639" "00017031" "70" "-3675" "0" "-3675" "0" "c.-3675G>A" "r.(?)" "p.(=)" "" "0000968450" "00017031" "50" "-3673" "0" "-3673" "0" "c.-3673A>G" "r.(?)" "p.(=)" "" "0000981997" "00017031" "50" "-3406" "0" "-3406" "0" "c.-3406A>G" "r.(?)" "p.(=)" "" "0000981998" "00017031" "90" "-3651" "0" "-3651" "0" "c.-3651T>A" "r.(?)" "p.(=)" "" "0000985115" "00017031" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Arg)" "" "0000985116" "00017031" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Arg)" "" "0000985117" "00017031" "90" "601" "0" "601" "0" "c.601G>C" "r.(?)" "p.(Gly201Arg)" "" "0000985118" "00017031" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Arg)" "" "0000985119" "00017031" "90" "166" "0" "166" "0" "c.166G>C" "r.(?)" "p.(Asp56His)" "" "0000985120" "00017031" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Arg)" "" "0001002490" "00017031" "50" "272" "0" "273" "0" "c.272_273insTA" "r.(?)" "p.(Glu92Thrfs*3)" "" "0001015411" "00017031" "70" "-3310" "0" "-3310" "0" "c.-3310C>T" "r.(?)" "p.(=)" "" "0001015412" "00017031" "30" "-3347" "0" "-3347" "0" "c.-3347C>T" "r.(?)" "p.(=)" "" "0001015413" "00017031" "30" "-3644" "0" "-3644" "0" "c.-3644C>T" "r.(?)" "p.(=)" "" "0001026736" "00017031" "30" "-3167" "0" "-3167" "0" "c.-3167G>A" "r.(?)" "p.(=)" "" "0001026737" "00017031" "50" "-3350" "0" "-3350" "0" "c.-3350C>A" "r.(?)" "p.(=)" "" "0001026738" "00017031" "50" "-3351" "0" "-3351" "0" "c.-3351G>A" "r.(?)" "p.(=)" "" "0001026739" "00017031" "50" "-3552" "0" "-3552" "0" "c.-3552T>C" "r.(?)" "p.(=)" "" "0001041264" "00017031" "50" "-3350" "0" "-3350" "0" "c.-3350C>A" "r.(?)" "p.(=)" "" "0001041265" "00017031" "50" "-3351" "0" "-3351" "0" "c.-3351G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000451286" "0000985115" "0000451287" "0000985116" "0000451288" "0000985117" "0000451289" "0000985118" "0000451290" "0000985119" "0000451291" "0000985120"