### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTPRC) # 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}}" "PTPRC" "protein tyrosine phosphatase, receptor type, C" "1" "q31-q32" "unknown" "LRG_95" "UD_134408504735" "" "https://www.LOVD.nl/PTPRC" "" "1" "9666" "5788" "151460" "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/PTPRC_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-17 16:09:14" "00000" "2023-11-27 17:35:39" ## 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}}" "00025462" "PTPRC" "transcript variant 1" "001" "NM_002838.4" "" "NP_002829.3" "" "" "" "-213" "5216" "3921" "198608098" "198726605" "00006" "2019-09-10 13:00:29" "" "" ## 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}}" "02187" "-" "sarcoma, synovial" "" "300813" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 12:07:12" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" "05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59" "07034" "IMD105" "immunodeficiency, type 105, severe combined" "AR" "619924" "" "" "" "00006" "2023-10-17 16:07:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PTPRC" "05292" "PTPRC" "07034" ## 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}}" "00104000" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-119A" "00264055" "" "" "" "1" "" "03415" "" "" "F" "no" "Brazil" ">24y" "0" "" "" "" "#01" "00334343" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334367" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334371" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334842" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00104000" "03381" "00264055" "02187" "00334343" "05793" "00334367" "05793" "00334371" "05793" "00334842" "05793" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02187, 03381, 05292, 05793, 07034 ## Count = 6 "{{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}}" "{{Phenotype/Diagnosis/Criteria}}" "0000081934" "03381" "00104000" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "0000201931" "02187" "00264055" "03415" "Unknown" "" "15y-synovial sarcoma; mother with bilateral breast cancer (36y/38y); Chompret criteria for Li-Fraumeni syndrome, negative for TP53 testing" "" "" "" "" "" "" "" "" "" "" "0000253138" "05793" "00334343" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253162" "05793" "00334367" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253166" "05793" "00334371" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" "0000253239" "05793" "00334842" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "COVID-19" "" ## 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}}" "0000104471" "00104000" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000265177" "00264055" "1" "03415" "03415" "2019-09-08 22:12:12" "" "" "SEQ" "DNA" "Blood" "" "0000335571" "00334343" "1" "04011" "04011" "2021-02-28 03:01:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335595" "00334367" "1" "04011" "04011" "2021-02-28 08:34:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335599" "00334371" "1" "04011" "04011" "2021-02-28 08:59:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336071" "00334842" "1" "04011" "04011" "2021-03-02 01:47:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000265177" "PTPRC" ## 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 = 65 "{{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}}" "0000169292" "0" "70" "1" "198711113" "198711113" "subst" "2.4504E-5" "00587" "chr1_001047" "g.198711113C>T" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_002838.4(PTPRC):c.2519C>T p.(Ala840Val)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.198741984C>T" "" "likely pathogenic" "" "0000251869" "0" "30" "1" "198676063" "198676063" "subst" "0.0176342" "02326" "PTPRC_000005" "g.198676063A>C" "" "" "" "PTPRC(NM_002838.5):c.886A>C (p.I296L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198706934A>C" "" "likely benign" "" "0000251878" "0" "30" "1" "198701459" "198701459" "subst" "0" "02326" "PTPRC_000015" "g.198701459A>T" "" "" "" "PTPRC(NM_002838.5):c.2005A>T (p.I669L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198732330A>T" "" "likely benign" "" "0000254738" "0" "30" "1" "198700763" "198700763" "subst" "4.07113E-6" "01943" "PTPRC_000013" "g.198700763A>C" "" "" "" "PTPRC(NM_002838.4):c.1882A>C (p.M628L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198731634A>C" "" "likely benign" "" "0000254783" "0" "30" "1" "198672439" "198672439" "subst" "0.000281043" "01943" "PTPRC_000004" "g.198672439A>G" "" "" "" "PTPRC(NM_002838.4):c.596A>G (p.N199S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198703310A>G" "" "likely benign" "" "0000256279" "0" "30" "1" "198713260" "198713260" "subst" "4.09283E-6" "01943" "PTPRC_000017" "g.198713260A>C" "" "" "" "PTPRC(NM_002838.4):c.2775A>C (p.L925F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198744131A>C" "" "likely benign" "" "0000301310" "0" "30" "1" "198691595" "198691595" "subst" "0.0147454" "02326" "PTPRC_000009" "g.198691595T>A" "" "" "" "PTPRC(NM_002838.5):c.1710T>A (p.H570Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198722466T>A" "" "likely benign" "" "0000301311" "0" "10" "1" "198711170" "198711170" "del" "0" "02326" "PTPRC_000016" "g.198711170del" "" "" "" "PTPRC(NM_002838.5):c.2561+15delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198742041del" "" "benign" "" "0000301312" "0" "30" "1" "198668679" "198668679" "subst" "6.49968E-5" "02326" "PTPRC_000001" "g.198668679C>T" "" "" "" "PTPRC(NM_002838.5):c.299-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198699550C>T" "" "likely benign" "" "0000301313" "0" "30" "1" "198668761" "198668761" "subst" "0.0149651" "02326" "PTPRC_000002" "g.198668761G>C" "" "" "" "PTPRC(NM_002838.5):c.367G>C (p.D123H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198699632G>C" "" "likely benign" "" "0000306611" "0" "30" "1" "198721370" "198721370" "subst" "0.000101995" "01943" "PTPRC_000019" "g.198721370T>C" "" "" "" "PTPRC(NM_002838.4):c.3208-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198752241T>C" "" "likely benign" "" "0000306612" "0" "50" "1" "198725049" "198725049" "subst" "0" "01943" "PTPRC_000021" "g.198725049C>A" "" "" "" "PTPRC(NM_002838.4):c.3660C>A (p.F1220L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198755920C>A" "" "VUS" "" "0000306613" "0" "30" "1" "198725202" "198725202" "subst" "0.000738366" "01943" "PTPRC_000023" "g.198725202C>A" "" "" "" "PTPRC(NM_002838.4):c.3813C>A (p.L1271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198756073C>A" "" "likely benign" "" "0000306614" "0" "30" "1" "198671574" "198671574" "subst" "4.06144E-6" "01943" "PTPRC_000003" "g.198671574G>T" "" "" "" "PTPRC(NM_002838.4):c.498G>T (p.L166F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.198702445G>T" "" "likely benign" "" "0000504705" "0" "30" "1" "198677352" "198677352" "subst" "0.000447719" "01943" "PTPRC_000006" "g.198677352C>T" "" "" "" "PTPRC(NM_002838.4):c.995C>T (p.T332I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198708223C>T" "" "likely benign" "" "0000504706" "0" "30" "1" "198685967" "198685967" "subst" "0" "01943" "PTPRC_000007" "g.198685967C>T" "" "" "" "PTPRC(NM_002838.4):c.1448C>T (p.A483V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198716838C>T" "" "likely benign" "" "0000504707" "0" "30" "1" "198687304" "198687304" "subst" "2.03102E-5" "01943" "PTPRC_000008" "g.198687304G>A" "" "" "" "PTPRC(NM_002838.4):c.1532G>A (p.R511H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198718175G>A" "" "likely benign" "" "0000504708" "0" "10" "1" "198697591" "198697591" "subst" "0.0145223" "02326" "PTPRC_000010" "g.198697591T>A" "" "" "" "PTPRC(NM_002838.5):c.1829+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198728462T>A" "" "benign" "" "0000504709" "0" "30" "1" "198698304" "198698307" "del" "0" "01943" "PTPRC_000011" "g.198698304_198698307del" "" "" "" "PTPRC(NM_002838.4):c.1864+4_1864+7delAGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198729175_198729178del" "" "likely benign" "" "0000504710" "0" "30" "1" "198698308" "198698308" "subst" "0.000345923" "01943" "PTPRC_000012" "g.198698308T>C" "" "" "" "PTPRC(NM_002838.4):c.1864+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198729179T>C" "" "likely benign" "" "0000504711" "0" "30" "1" "198700785" "198700785" "subst" "0" "01943" "PTPRC_000014" "g.198700785C>G" "" "" "" "PTPRC(NM_002838.4):c.1904C>G (p.A635G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198731656C>G" "" "likely benign" "" "0000504712" "0" "30" "1" "198717354" "198717354" "dup" "0" "02326" "PTPRC_000018" "g.198717354dup" "" "" "" "PTPRC(NM_002838.5):c.2938+26dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198748225dup" "" "likely benign" "" "0000504713" "0" "30" "1" "198721437" "198721437" "subst" "0" "01943" "PTPRC_000020" "g.198721437C>T" "" "" "" "PTPRC(NM_002838.4):c.3267C>T (p.D1089=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198752308C>T" "" "likely benign" "" "0000504714" "0" "30" "1" "198725059" "198725059" "subst" "0.0019468" "01943" "PTPRC_000022" "g.198725059G>A" "" "" "" "PTPRC(NM_002838.4):c.3670G>A (p.V1224I), PTPRC(NM_002838.5):c.3670G>A (p.V1224I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198755930G>A" "" "likely benign" "" "0000504715" "0" "30" "1" "198725059" "198725059" "subst" "0.0019468" "02326" "PTPRC_000022" "g.198725059G>A" "" "" "" "PTPRC(NM_002838.4):c.3670G>A (p.V1224I), PTPRC(NM_002838.5):c.3670G>A (p.V1224I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198755930G>A" "" "likely benign" "" "0000595759" "0" "70" "1" "198721490" "198721490" "subst" "0" "03415" "PTPRC_000024" "g.198721490G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.198752361G>T" "" "likely pathogenic" "" "0000605058" "0" "30" "1" "198671642" "198671642" "subst" "0.00116546" "01943" "PTPRC_000027" "g.198671642T>A" "" "" "" "PTPRC(NM_002838.4):c.566T>A (p.I189N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198702513T>A" "" "likely benign" "" "0000605059" "0" "30" "1" "198675959" "198675959" "subst" "0.00101175" "01943" "PTPRC_000028" "g.198675959G>T" "" "" "" "PTPRC(NM_002838.4):c.782G>T (p.G261V), PTPRC(NM_002838.5):c.782G>T (p.G261V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198706830G>T" "" "likely benign" "" "0000605060" "0" "30" "1" "198685816" "198685816" "subst" "0.000924433" "01943" "PTPRC_000029" "g.198685816G>A" "" "" "" "PTPRC(NM_002838.4):c.1297G>A (p.D433N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198716687G>A" "" "likely benign" "" "0000605061" "0" "50" "1" "198721906" "198721906" "subst" "6.98353E-5" "01943" "PTPRC_000030" "g.198721906G>A" "" "" "" "PTPRC(NM_002838.4):c.3509+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198752777G>A" "" "VUS" "" "0000620466" "0" "30" "1" "198663279" "198663279" "subst" "0" "01943" "PTPRC_000025" "g.198663279A>C" "" "" "" "PTPRC(NM_001267798.1):c.233A>C (p.K78T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198694150A>C" "" "likely benign" "" "0000620467" "0" "30" "1" "198666000" "198666000" "subst" "0.000109645" "01943" "PTPRC_000026" "g.198666000C>T" "" "" "" "PTPRC(NM_002838.4):c.260C>T (p.P87L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.198696871C>T" "" "likely benign" "" "0000675591" "0" "30" "1" "198687340" "198687340" "subst" "0.00056868" "02326" "PTPRC_000031" "g.198687340A>T" "" "" "" "PTPRC(NM_002838.5):c.1568A>T (p.E523V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675592" "0" "30" "1" "198717233" "198717234" "dup" "0" "02326" "PTPRC_000032" "g.198717233_198717234dup" "" "" "" "PTPRC(NM_002838.5):c.2848-6_2848-5dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687979" "0" "90" "1" "198608401" "198608401" "subst" "1.62666E-5" "01943" "PTPRC_000033" "g.198608401G>T" "" "" "" "PTPRC(NM_002838.4):c.3G>T (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000687980" "0" "30" "1" "198687356" "198687356" "subst" "0.000239697" "01943" "PTPRC_000034" "g.198687356G>A" "" "" "" "PTPRC(NM_002838.4):c.1584G>A (p.L528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687981" "0" "50" "1" "198711113" "198711113" "subst" "2.4504E-5" "01943" "PTPRC_000035" "g.198711113C>T" "" "" "" "PTPRC(NM_002838.4):c.2519C>T (p.A840V), PTPRC(NM_002838.5):c.2519C>T (p.A840V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687982" "0" "50" "1" "198723433" "198723433" "subst" "0.000240587" "01943" "PTPRC_000036" "g.198723433T>C" "" "" "" "PTPRC(NM_002838.4):c.3545T>C (p.L1182S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717066" "0" "30" "1" "198675959" "198675959" "subst" "0.00101175" "02326" "PTPRC_000028" "g.198675959G>T" "" "" "" "PTPRC(NM_002838.4):c.782G>T (p.G261V), PTPRC(NM_002838.5):c.782G>T (p.G261V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717067" "0" "10" "1" "198691595" "198691595" "subst" "0.0147454" "02327" "PTPRC_000009" "g.198691595T>A" "" "" "" "PTPRC(NM_002838.5):c.1710T>A (p.H570Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717068" "0" "50" "1" "198697556" "198697556" "subst" "4.47894E-5" "02325" "PTPRC_000037" "g.198697556A>G" "" "" "" "PTPRC(NM_002838.5):c.1808A>G (p.D603G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717069" "0" "50" "1" "198723439" "198723439" "subst" "1.22333E-5" "02326" "PTPRC_000038" "g.198723439A>C" "" "" "" "PTPRC(NM_002838.5):c.3551A>C (p.N1184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717070" "0" "30" "1" "198725205" "198725205" "subst" "5.30279E-5" "01943" "PTPRC_000039" "g.198725205T>A" "" "" "" "PTPRC(NM_002838.4):c.3816T>A (p.P1272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000734124" "0" "70" "1" "198704373" "198704373" "subst" "6.18909E-5" "04011" "PTPRC_000041" "g.198704373A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734199" "0" "70" "1" "198698273" "198698273" "subst" "0" "04011" "PTPRC_000040" "g.198698273G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734226" "0" "70" "1" "198721475" "198721475" "subst" "2.44868E-5" "04011" "PTPRC_000042" "g.198721475G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734987" "0" "70" "1" "198704373" "198704373" "subst" "6.18909E-5" "04011" "PTPRC_000041" "g.198704373A>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000798994" "0" "30" "1" "198685880" "198685880" "subst" "4.06742E-6" "01943" "PTPRC_000043" "g.198685880A>T" "" "" "" "PTPRC(NM_002838.4):c.1361A>T (p.K454I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798995" "0" "30" "1" "198704279" "198704279" "subst" "4.11306E-5" "01943" "PTPRC_000044" "g.198704279G>A" "" "" "" "PTPRC(NM_002838.4):c.2301G>A (p.P767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798996" "0" "30" "1" "198719615" "198719615" "subst" "0.000501116" "02326" "PTPRC_000045" "g.198719615A>G" "" "" "" "PTPRC(NM_002838.4):c.3073-6A>G, PTPRC(NM_002838.5):c.3073-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857201" "0" "30" "1" "198719615" "198719615" "subst" "0.000501116" "01943" "PTPRC_000045" "g.198719615A>G" "" "" "" "PTPRC(NM_002838.4):c.3073-6A>G, PTPRC(NM_002838.5):c.3073-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883029" "0" "30" "1" "198665902" "198665902" "subst" "4.06118E-6" "02326" "PTPRC_000046" "g.198665902C>A" "" "" "" "PTPRC(NM_002838.5):c.162C>A (p.T54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883030" "0" "30" "1" "198665922" "198665922" "subst" "0" "02326" "PTPRC_000047" "g.198665922G>A" "" "" "" "PTPRC(NM_002838.5):c.182G>A (p.S61N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883031" "0" "30" "1" "198678922" "198678922" "subst" "7.7332E-5" "02326" "PTPRC_000048" "g.198678922C>T" "" "" "" "PTPRC(NM_002838.5):c.1140C>T (p.N380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883032" "0" "30" "1" "198687384" "198687384" "subst" "0.000101626" "02326" "PTPRC_000049" "g.198687384G>A" "" "" "" "PTPRC(NM_002838.5):c.1612G>A (p.D538N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883033" "0" "50" "1" "198711113" "198711113" "subst" "2.4504E-5" "02325" "PTPRC_000035" "g.198711113C>T" "" "" "" "PTPRC(NM_002838.4):c.2519C>T (p.A840V), PTPRC(NM_002838.5):c.2519C>T (p.A840V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883034" "0" "50" "1" "198719695" "198719695" "subst" "1.22089E-5" "02325" "PTPRC_000050" "g.198719695G>A" "" "" "" "PTPRC(NM_002838.5):c.3147G>A (p.M1049I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910893" "0" "30" "1" "198682099" "198682099" "subst" "8.13411E-6" "02326" "PTPRC_000051" "g.198682099A>T" "" "" "" "PTPRC(NM_002838.5):c.1189A>T (p.I397F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910894" "0" "30" "1" "198721786" "198721786" "subst" "0" "02326" "PTPRC_000052" "g.198721786G>C" "" "" "" "PTPRC(NM_002838.5):c.3394G>C (p.A1132P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923039" "0" "10" "1" "198678834" "198678834" "subst" "0.00257304" "02326" "PTPRC_000053" "g.198678834A>G" "" "" "" "PTPRC(NM_002838.5):c.1052A>G (p.N351S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923040" "0" "30" "1" "198711166" "198711166" "subst" "0" "02326" "PTPRC_000054" "g.198711166C>T" "" "" "" "PTPRC(NM_002838.5):c.2561+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928095" "0" "30" "1" "198685827" "198685827" "subst" "4.0708E-6" "02326" "PTPRC_000055" "g.198685827T>C" "" "" "" "PTPRC(NM_002838.5):c.1308T>C (p.N436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928096" "0" "10" "1" "198718692" "198718692" "subst" "0.00235237" "02326" "PTPRC_000056" "g.198718692T>C" "" "" "" "PTPRC(NM_002838.5):c.3072+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947092" "0" "30" "1" "198725058" "198725058" "subst" "6.93798E-5" "02326" "PTPRC_000057" "g.198725058C>T" "" "" "" "PTPRC(NM_002838.5):c.3669C>T (p.D1223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947093" "0" "30" "1" "198725097" "198725097" "subst" "8.1582E-5" "02326" "PTPRC_000058" "g.198725097A>G" "" "" "" "PTPRC(NM_002838.5):c.3708A>G (p.V1236=)" "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 PTPRC ## Count = 65 "{{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}}" "0000169292" "00025462" "70" "2519" "0" "2519" "0" "c.2519C>T" "r.(?)" "p.(Ala840Val)" "" "0000251869" "00025462" "30" "886" "0" "886" "0" "c.886A>C" "r.(?)" "p.(Ile296Leu)" "" "0000251878" "00025462" "30" "2005" "0" "2005" "0" "c.2005A>T" "r.(?)" "p.(Ile669Leu)" "" "0000254738" "00025462" "30" "1882" "0" "1882" "0" "c.1882A>C" "r.(?)" "p.(Met628Leu)" "" "0000254783" "00025462" "30" "596" "0" "596" "0" "c.596A>G" "r.(?)" "p.(Asn199Ser)" "" "0000256279" "00025462" "30" "2775" "0" "2775" "0" "c.2775A>C" "r.(?)" "p.(Leu925Phe)" "" "0000301310" "00025462" "30" "1710" "0" "1710" "0" "c.1710T>A" "r.(?)" "p.(His570Gln)" "" "0000301311" "00025462" "10" "2561" "15" "2561" "15" "c.2561+15del" "r.(=)" "p.(=)" "" "0000301312" "00025462" "30" "299" "-14" "299" "-14" "c.299-14C>T" "r.(=)" "p.(=)" "" "0000301313" "00025462" "30" "367" "0" "367" "0" "c.367G>C" "r.(?)" "p.(Asp123His)" "" "0000306611" "00025462" "30" "3208" "-8" "3208" "-8" "c.3208-8T>C" "r.(=)" "p.(=)" "" "0000306612" "00025462" "50" "3660" "0" "3660" "0" "c.3660C>A" "r.(?)" "p.(Phe1220Leu)" "" "0000306613" "00025462" "30" "3813" "0" "3813" "0" "c.3813C>A" "r.(?)" "p.(Leu1271=)" "" "0000306614" "00025462" "30" "498" "0" "498" "0" "c.498G>T" "r.(?)" "p.(Leu166Phe)" "" "0000504705" "00025462" "30" "995" "0" "995" "0" "c.995C>T" "r.(?)" "p.(Thr332Ile)" "" "0000504706" "00025462" "30" "1448" "0" "1448" "0" "c.1448C>T" "r.(?)" "p.(Ala483Val)" "" "0000504707" "00025462" "30" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "" "0000504708" "00025462" "10" "1829" "14" "1829" "14" "c.1829+14T>A" "r.(=)" "p.(=)" "" "0000504709" "00025462" "30" "1864" "4" "1864" "7" "c.1864+4_1864+7del" "r.spl?" "p.?" "" "0000504710" "00025462" "30" "1864" "8" "1864" "8" "c.1864+8T>C" "r.(=)" "p.(=)" "" "0000504711" "00025462" "30" "1904" "0" "1904" "0" "c.1904C>G" "r.(?)" "p.(Ala635Gly)" "" "0000504712" "00025462" "30" "2938" "26" "2938" "26" "c.2938+26dup" "r.(=)" "p.(=)" "" "0000504713" "00025462" "30" "3267" "0" "3267" "0" "c.3267C>T" "r.(?)" "p.(Asp1089=)" "" "0000504714" "00025462" "30" "3670" "0" "3670" "0" "c.3670G>A" "r.(?)" "p.(Val1224Ile)" "" "0000504715" "00025462" "30" "3670" "0" "3670" "0" "c.3670G>A" "r.(?)" "p.(Val1224Ile)" "" "0000595759" "00025462" "70" "3320" "0" "3320" "0" "c.3320G>T" "r.(?)" "p.(Arg1107Ile)" "" "0000605058" "00025462" "30" "566" "0" "566" "0" "c.566T>A" "r.(?)" "p.(Ile189Asn)" "" "0000605059" "00025462" "30" "782" "0" "782" "0" "c.782G>T" "r.(?)" "p.(Gly261Val)" "" "0000605060" "00025462" "30" "1297" "0" "1297" "0" "c.1297G>A" "r.(?)" "p.(Asp433Asn)" "" "0000605061" "00025462" "50" "3509" "5" "3509" "5" "c.3509+5G>A" "r.spl?" "p.?" "" "0000620466" "00025462" "30" "100" "1777" "100" "1777" "c.100+1777A>C" "r.(=)" "p.(=)" "" "0000620467" "00025462" "30" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Pro87Leu)" "" "0000675591" "00025462" "30" "1568" "0" "1568" "0" "c.1568A>T" "r.(?)" "p.(Glu523Val)" "" "0000675592" "00025462" "30" "2848" "-5" "2848" "-4" "c.2848-5_2848-4dup" "r.spl?" "p.?" "" "0000687979" "00025462" "90" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000687980" "00025462" "30" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Leu528=)" "" "0000687981" "00025462" "50" "2519" "0" "2519" "0" "c.2519C>T" "r.(?)" "p.(Ala840Val)" "" "0000687982" "00025462" "50" "3545" "0" "3545" "0" "c.3545T>C" "r.(?)" "p.(Leu1182Ser)" "" "0000717066" "00025462" "30" "782" "0" "782" "0" "c.782G>T" "r.(?)" "p.(Gly261Val)" "" "0000717067" "00025462" "10" "1710" "0" "1710" "0" "c.1710T>A" "r.(?)" "p.(His570Gln)" "" "0000717068" "00025462" "50" "1808" "0" "1808" "0" "c.1808A>G" "r.(?)" "p.(Asp603Gly)" "" "0000717069" "00025462" "50" "3551" "0" "3551" "0" "c.3551A>C" "r.(?)" "p.(Asn1184Thr)" "" "0000717070" "00025462" "30" "3816" "0" "3816" "0" "c.3816T>A" "r.(?)" "p.(Pro1272=)" "" "0000734124" "00025462" "50" "2395" "0" "2395" "0" "c.2395A>T" "r.(?)" "p.(Ile799Phe)" "" "0000734199" "00025462" "50" "1837" "0" "1837" "0" "c.1837G>A" "r.(?)" "p.(Asp613Asn)" "" "0000734226" "00025462" "50" "3305" "0" "3305" "0" "c.3305G>A" "r.(?)" "p.(Arg1102His)" "" "0000734987" "00025462" "50" "2395" "0" "2395" "0" "c.2395A>T" "r.(?)" "p.(Ile799Phe)" "" "0000798994" "00025462" "30" "1361" "0" "1361" "0" "c.1361A>T" "r.(?)" "p.(Lys454Ile)" "" "0000798995" "00025462" "30" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Pro767=)" "" "0000798996" "00025462" "30" "3073" "-6" "3073" "-6" "c.3073-6A>G" "r.(=)" "p.(=)" "" "0000857201" "00025462" "30" "3073" "-6" "3073" "-6" "c.3073-6A>G" "r.(=)" "p.(=)" "" "0000883029" "00025462" "30" "162" "0" "162" "0" "c.162C>A" "r.(?)" "p.(Thr54=)" "" "0000883030" "00025462" "30" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Ser61Asn)" "" "0000883031" "00025462" "30" "1140" "0" "1140" "0" "c.1140C>T" "r.(?)" "p.(Asn380=)" "" "0000883032" "00025462" "30" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Asp538Asn)" "" "0000883033" "00025462" "50" "2519" "0" "2519" "0" "c.2519C>T" "r.(?)" "p.(Ala840Val)" "" "0000883034" "00025462" "50" "3147" "0" "3147" "0" "c.3147G>A" "r.(?)" "p.(Met1049Ile)" "" "0000910893" "00025462" "30" "1189" "0" "1189" "0" "c.1189A>T" "r.(?)" "p.(Ile397Phe)" "" "0000910894" "00025462" "30" "3394" "0" "3394" "0" "c.3394G>C" "r.(?)" "p.(Ala1132Pro)" "" "0000923039" "00025462" "10" "1052" "0" "1052" "0" "c.1052A>G" "r.(?)" "p.(Asn351Ser)" "" "0000923040" "00025462" "30" "2561" "11" "2561" "11" "c.2561+11C>T" "r.(=)" "p.(=)" "" "0000928095" "00025462" "30" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(=)" "" "0000928096" "00025462" "10" "3072" "14" "3072" "14" "c.3072+14T>C" "r.(=)" "p.(=)" "" "0000947092" "00025462" "30" "3669" "0" "3669" "0" "c.3669C>T" "r.(?)" "p.(=)" "" "0000947093" "00025462" "30" "3708" "0" "3708" "0" "c.3708A>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000104471" "0000169292" "0000265177" "0000595759" "0000335571" "0000734124" "0000335595" "0000734199" "0000335599" "0000734226" "0000336071" "0000734987"