### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTPN22) # 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}}" "PTPN22" "protein tyrosine phosphatase, non-receptor type 22 (lymphoid)" "1" "p13.2" "unknown" "NG_011432.1" "UD_132084517619" "" "https://www.LOVD.nl/PTPN22" "" "1" "9652" "26191" "600716" "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/PTPN22_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-25 17:12:53" "00000" "2025-11-01 13:22:20" ## 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}}" "00017153" "PTPN22" "transcript variant 1" "003" "NM_015967.5" "" "NP_057051.3" "" "" "" "-130" "3518" "2424" "114414375" "114356433" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00150" "IDDM" "diabetes mellitus, insulin-dependent (IDDM)" "AR" "222100" "" "" "" "00001" "2013-06-14 15:55:22" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01417" "SLE" "lupus erythematosus, systemic, susceptibility to (SLE)" "AD" "152700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01546" "RA" "arthritis, rheumatoid (RA)" "" "180300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:50:05" "05467" "Behcet" "Behcet syndrome" "" "109650" "" "" "" "00006" "2018-08-22 09:45:03" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "PTPN22" "00150" "PTPN22" "01417" "PTPN22" "01546" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00180643" "" "" "" "563" "" "02555" "{PMID:Wallace 2007:17660222}" "United Kingdom and Middle East cohort" "F;M" "" "(United Kingdom (Great Britain))" "" "0" "{DB:Uveo3100?snp=rs2476601&t=1535338870}" "" "United Kingdom and Middle East" "" "00204292" "" "" "" "10" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "controls, heterozygous" "00205857" "" "" "" "28" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "cases, heterozygous" "00205858" "" "" "" "122" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "cases, homozygous" "00207347" "" "" "" "10" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "controls, heterozygous" "00207352" "" "" "" "1" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "controls, homozygous" "00207353" "" "" "" "158" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "controls, homozygous" "00207354" "" "" "" "28" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "cases, heterozygous" "00207355" "" "" "" "1" "" "02588" "{PMID:Welter 2018:29408732}" "" "-" "no" "Brazil" "" "0" "" "" "white, south region of Brazil" "cases, homozygous" "00289480" "" "" "" "41" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00180643" "05467" "00204292" "00000" "00205857" "00150" "00205858" "00150" "00207347" "00000" "00207352" "00000" "00207353" "00000" "00207354" "00150" "00207355" "00150" "00289480" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00150, 00198, 01417, 01546, 05467 ## Count = 5 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000143038" "05467" "00180643" "02555" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Behcet disease" "" "0000154003" "00150" "00205857" "02588" "Unknown" "" "Hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), elevated serum creatinine (HP:0003259), diabetic ketoacidosis (HP:0001953)" "" "" "" "" "" "" "" "" "" "" "" "0000154004" "00150" "00205858" "02588" "Unknown" "" "Hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), elevated serum creatinine (HP:0003259), diabetic ketoacidosis (HP:0001953)" "" "" "" "" "" "" "" "" "" "" "" "0000155127" "00150" "00207354" "02588" "Unknown" "" "Hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), elevated serum creatinine (HP:0003259), diabetic ketoacidosis (HP:0001953)" "" "" "" "" "" "" "" "" "" "" "" "0000155128" "00150" "00207355" "02588" "Unknown" "" "Hyperglycemia (HP:0003074), elevated hemoglobin A1c (HP:0040217), elevated serum creatinine (HP:0003259), diabetic ketoacidosis (HP:0001953)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181580" "00180643" "1" "02555" "00006" "2018-09-07 14:35:38" "" "" "arraySNP" "DNA" "Blood" "" "0000206885" "00204292" "1" "02588" "02588" "2018-11-12 08:38:57" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000206887" "00205857" "1" "02588" "02588" "2018-11-12 09:30:10" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000206888" "00205858" "1" "02588" "02588" "2018-11-12 09:36:26" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000208384" "00207347" "1" "02588" "02588" "2018-11-20 10:37:45" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000208388" "00207352" "1" "02588" "02588" "2018-11-20 11:04:17" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000208389" "00207353" "1" "02588" "02588" "2018-11-20 11:11:02" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000208390" "00207354" "1" "02588" "02588" "2018-11-20 13:47:51" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000208391" "00207355" "1" "02588" "02588" "2018-11-20 13:58:10" "" "" "PCRq;TaqMan" "DNA" "blood" "" "0000290648" "00289480" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000181580" "PTPN22" "0000206885" "PTPN22" "0000206887" "PTPN22" "0000206888" "PTPN22" "0000208384" "PTPN22" "0000208388" "PTPN22" "0000208389" "PTPN22" "0000208390" "PTPN22" "0000208391" "PTPN22" ## 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 = 102 "{{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}}" "0000248832" "0" "10" "1" "114438951" "114438951" "subst" "0.303182" "02325" "AP4B1_000008" "g.114438951A>G" "" "" "" "AP4B1(NM_006594.5):c.1439T>C (p.L480S), AP4B1-AS1(NR_037864.1):n.247-1539A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113896329A>G" "" "benign" "" "0000250514" "0" "90" "1" "114444402" "114444402" "del" "8.12143E-6" "02329" "AP4B1_000016" "g.114444402del" "" "" "" "AP4B1(NM_006594.5):c.444delT (p.H148Qfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113901780del" "" "pathogenic" "" "0000256587" "0" "50" "1" "114443951" "114443951" "subst" "8.12176E-6" "01943" "AP4B1_000015" "g.114443951A>G" "" "" "" "AP4B1(NM_006594.4):c.524T>C (p.V175A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113901329A>G" "" "VUS" "" "0000259105" "0" "10" "1" "114443035" "114443035" "subst" "0.385782" "02325" "AP4B1_000013" "g.114443035C>G" "" "" "" "AP4B1(NM_006594.5):c.618-13G>C, AP4B1-AS1(NR_037864.1):n.910C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113900413C>G" "" "benign" "" "0000259506" "0" "30" "1" "114438448" "114438448" "subst" "0.00370388" "02325" "AP4B1_000006" "g.114438448T>C" "" "" "" "AP4B1(NM_006594.4):c.1723A>G (p.I575V), AP4B1(NM_006594.5):c.1723A>G (p.I575V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113895826T>C" "" "likely benign" "" "0000259666" "0" "50" "1" "114445279" "114445279" "subst" "8.12269E-6" "02325" "AP4B1_000017" "g.114445279G>A" "" "" "" "AP4B1(NM_001253852.3):c.319C>T (p.(Arg107Trp)), AP4B1(NM_006594.5):c.319C>T (p.R107W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113902657G>A" "" "VUS" "" "0000261008" "0" "90" "1" "114441425" "114441425" "subst" "0" "02326" "AP4B1_000011" "g.114441425T>C" "" "" "" "AP4B1(NM_006594.5):c.1115-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113898803T>C" "" "pathogenic" "" "0000262560" "0" "90" "1" "114441378" "114441379" "del" "0" "01943" "AP4B1_000010" "g.114441378_114441379del" "" "" "" "AP4B1(NM_006594.4):c.1160_1161delCA (p.T387Rfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113898756_113898757del" "" "pathogenic" "" "0000262561" "0" "30" "1" "114439072" "114439072" "subst" "2.0312E-5" "01943" "AP4B1_000009" "g.114439072T>G" "" "" "" "AP4B1(NM_006594.4):c.1318A>C (p.I440L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113896450T>G" "" "likely benign" "" "0000262562" "0" "50" "1" "114438946" "114438946" "subst" "1.21876E-5" "01943" "AP4B1_000007" "g.114438946G>A" "" "" "" "AP4B1(NM_006594.4):c.1444C>T (p.R482C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113896324G>A" "" "VUS" "" "0000262563" "0" "30" "1" "114438448" "114438448" "subst" "0.00370388" "01943" "AP4B1_000006" "g.114438448T>C" "" "" "" "AP4B1(NM_006594.4):c.1723A>G (p.I575V), AP4B1(NM_006594.5):c.1723A>G (p.I575V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113895826T>C" "" "likely benign" "" "0000262564" "0" "50" "1" "114445423" "114445423" "subst" "8.93321E-5" "01943" "AP4B1_000019" "g.114445423T>C" "" "" "" "AP4B1(NM_006594.4):c.175A>G (p.T59A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113902801T>C" "" "VUS" "" "0000262565" "0" "10" "1" "114445358" "114445358" "subst" "0.00137655" "01943" "AP4B1_000018" "g.114445358T>C" "" "" "" "AP4B1(NM_006594.4):c.240A>G (p.P80=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113902736T>C" "" "benign" "" "0000262566" "0" "30" "1" "114443905" "114443905" "subst" "0.000142122" "01943" "AP4B1_000014" "g.114443905T>C" "" "" "" "AP4B1(NM_006594.4):c.570A>G (p.E190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113901283T>C" "" "likely benign" "" "0000262567" "0" "30" "1" "114442728" "114442728" "subst" "0.000990943" "01943" "AP4B1_000012" "g.114442728C>T" "" "" "" "AP4B1(NM_006594.4):c.912G>A (p.L304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113900106C>T" "" "likely benign" "" "0000306608" "0" "30" "1" "114380656" "114380656" "subst" "0.00177315" "01943" "PTPN22_000001" "g.114380656G>C" "" "" "" "PTPN22(NM_015967.6):c.1366C>G (p.Q456E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113838034G>C" "" "likely benign" "" "0000320913" "0" "50" "1" "114438092" "114438092" "subst" "0" "01804" "AP4B1_000005" "g.114438092G>T" "" "" "" "AP4B1(NM_001253852.1):c.1815C>A (p.(Asn605Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113895470G>T" "" "VUS" "" "0000337025" "0" "10" "1" "114443035" "114443035" "subst" "0.385782" "02327" "AP4B1_000013" "g.114443035C>G" "" "" "" "AP4B1(NM_006594.5):c.618-13G>C, AP4B1-AS1(NR_037864.1):n.910C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113900413C>G" "" "benign" "" "0000340779" "0" "10" "1" "114443899" "114443899" "subst" "0.166435" "02327" "AP4B1_000024" "g.114443899G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113901277G>A" "" "benign" "" "0000346080" "0" "50" "1" "114439059" "114439059" "subst" "0" "02327" "AP4B1_000021" "g.114439059C>A" "" "" "" "AP4B1(NM_006594.5):c.1331G>T (p.G444V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113896437C>A" "" "VUS" "" "0000348937" "0" "50" "1" "114442672" "114442672" "subst" "0.000596964" "02327" "AP4B1_000022" "g.114442672G>A" "" "" "" "AP4B1(NM_006594.4):c.968C>T (p.S323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113900050G>A" "" "VUS" "" "0000349390" "0" "50" "1" "114442873" "114442873" "subst" "0.00141205" "02327" "AP4B1_000023" "g.114442873G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.113900251G>A" "" "VUS" "" "0000405276" "0" "50" "1" "114377568" "114377568" "subst" "0.928503" "02555" "PTPN22_000002" "g.114377568A>G" "563/738 cases" "{PMID:Wallace 2007:17660222}" "" "" "{DB:Uveo3100?snp=rs2476601&t=1535338870}\r\nVariant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs2476601" "0" "" "" "g.113834946A>G" "" "VUS" "" "0000436530" "0" "30" "1" "114377568" "114377568" "subst" "0.928503" "02588" "PTPN22_000002" "g.114377568A>G" "10/169 controls" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946A>G" "" "likely benign" "" "0000436533" "0" "70" "1" "114377568" "114377568" "" "0" "02588" "PTPN22_000002" "g.114377568=" "28/151 case IDDM" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946=" "" "likely pathogenic" "" "0000436534" "3" "30" "1" "114377568" "114377568" "subst" "0.928503" "02588" "PTPN22_000002" "g.114377568A>G" "122/151 cases IDDM" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946A>G" "" "likely benign" "" "0000438218" "0" "70" "1" "114377568" "114377568" "" "0" "02588" "PTPN22_000002" "g.114377568=" "10/169 controls" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946=" "" "likely pathogenic" "" "0000438223" "3" "70" "1" "114377568" "114377568" "" "0" "02588" "PTPN22_000002" "g.114377568=" "1/169 controls" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946=" "" "likely pathogenic" "" "0000438224" "3" "30" "1" "114377568" "114377568" "subst" "0.928503" "02588" "PTPN22_000002" "g.114377568A>G" "158/169 controls" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946A>G" "" "likely benign" "" "0000438225" "0" "30" "1" "114377568" "114377568" "subst" "0.928503" "02588" "PTPN22_000002" "g.114377568A>G" "28/151 case IDDM" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946A>G" "" "likely benign" "" "0000438226" "3" "70" "1" "114377568" "114377568" "" "0" "02588" "PTPN22_000002" "g.114377568=" "1/151 cases IDDM" "{PMID:Welter 2018:29408732}" "" "" "" "Unknown" "" "rs2476601" "0" "" "" "g.113834946=" "" "likely pathogenic" "" "0000502536" "0" "30" "1" "114372214" "114372214" "subst" "0.00595808" "01943" "PTPN22_000003" "g.114372214C>G" "" "" "" "PTPN22(NM_015967.6):c.2250G>C (p.K750N), PTPN22(NM_015967.8):c.2250G>C (p.K750N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113829592C>G" "" "likely benign" "" "0000502537" "0" "30" "1" "114372214" "114372214" "subst" "0.00595808" "02327" "PTPN22_000003" "g.114372214C>G" "" "" "" "PTPN22(NM_015967.6):c.2250G>C (p.K750N), PTPN22(NM_015967.8):c.2250G>C (p.K750N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113829592C>G" "" "likely benign" "" "0000502538" "0" "30" "1" "114372309" "114372309" "subst" "0" "01943" "PTPN22_000004" "g.114372309C>T" "" "" "" "PTPN22(NM_015967.6):c.2155G>A (p.E719K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113829687C>T" "" "likely benign" "" "0000502540" "0" "30" "1" "114380280" "114380280" "subst" "5.68777E-5" "01943" "PTPN22_000006" "g.114380280T>C" "" "" "" "PTPN22(NM_015967.6):c.1742A>G (p.H581R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113837658T>C" "" "likely benign" "" "0000502541" "0" "30" "1" "114380321" "114380321" "subst" "0.000654195" "01943" "PTPN22_000007" "g.114380321C>T" "" "" "" "PTPN22(NM_015967.6):c.1701G>A (p.L567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113837699C>T" "" "likely benign" "" "0000502542" "0" "30" "1" "114380914" "114380914" "subst" "0.00220666" "02326" "PTPN22_000008" "g.114380914G>T" "" "" "" "PTPN22(NM_015967.6):c.1108C>A (p.H370N), PTPN22(NM_015967.8):c.1108C>A (p.H370N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113838292G>T" "" "likely benign" "" "0000502543" "0" "30" "1" "114391217" "114391217" "subst" "1.62812E-5" "01943" "PTPN22_000009" "g.114391217A>G" "" "" "" "PTPN22(NM_015967.6):c.860T>C (p.L287S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113848595A>G" "" "likely benign" "" "0000502544" "0" "30" "1" "114401704" "114401704" "subst" "0.00164529" "02326" "AP4B1_000025" "g.114401704T>C" "" "" "" "PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113859082T>C" "" "likely benign" "" "0000502545" "0" "10" "1" "114402023" "114402023" "subst" "0.00171503" "01943" "AP4B1_000026" "g.114402023A>G" "" "" "" "PTPN22(NM_015967.6):c.147T>C (p.A49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113859401A>G" "" "benign" "" "0000502546" "0" "30" "1" "114437903" "114437903" "subst" "0.000247832" "01943" "AP4B1_000027" "g.114437903G>A" "" "" "" "AP4B1(NM_006594.4):c.2004C>T (p.T668=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113895281G>A" "" "likely benign" "" "0000502547" "0" "30" "1" "114438468" "114438468" "subst" "0" "01943" "AP4B1_000028" "g.114438468C>T" "" "" "" "AP4B1(NM_006594.4):c.1703G>A (p.G568D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113895846C>T" "" "likely benign" "" "0000502548" "0" "30" "1" "114438527" "114438527" "subst" "4.06105E-5" "01943" "AP4B1_000029" "g.114438527C>T" "" "" "" "AP4B1(NM_006594.4):c.1644G>A (p.P548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113895905C>T" "" "likely benign" "" "0000502549" "0" "50" "1" "114438612" "114438612" "subst" "6.49825E-5" "01943" "AP4B1_000030" "g.114438612C>T" "" "" "" "AP4B1(NM_006594.4):c.1559G>A (p.R520H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113895990C>T" "" "VUS" "" "0000502550" "0" "50" "1" "114439059" "114439059" "subst" "0" "02325" "AP4B1_000021" "g.114439059C>A" "" "" "" "AP4B1(NM_006594.5):c.1331G>T (p.G444V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113896437C>A" "" "VUS" "" "0000502551" "0" "30" "1" "114440516" "114440516" "subst" "1.62438E-5" "01943" "AP4B1_000031" "g.114440516A>G" "" "" "" "AP4B1(NM_006594.4):c.1248T>C (p.T416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113897894A>G" "" "likely benign" "" "0000502552" "0" "30" "1" "114441349" "114441349" "subst" "0.00101763" "01804" "AP4B1_000032" "g.114441349T>C" "" "" "" "AP4B1(NM_001253852.1):c.1189A>G (p.(Ile397Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113898727T>C" "" "likely benign" "" "0000502553" "0" "50" "1" "114442672" "114442672" "subst" "0.000596964" "01943" "AP4B1_000022" "g.114442672G>A" "" "" "" "AP4B1(NM_006594.4):c.968C>T (p.S323L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113900050G>A" "" "VUS" "" "0000502554" "0" "30" "1" "114442885" "114442885" "subst" "0.00115003" "01943" "AP4B1_000033" "g.114442885A>G" "" "" "" "AP4B1(NM_006594.4):c.755T>C (p.V252A), AP4B1(NM_006594.5):c.755T>C (p.V252A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113900263A>G" "" "likely benign" "" "0000502555" "0" "30" "1" "114444485" "114444485" "subst" "0" "01943" "AP4B1_000034" "g.114444485T>C" "" "" "" "AP4B1(NM_006594.4):c.361A>G (p.I121V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113901863T>C" "" "likely benign" "" "0000502556" "0" "10" "1" "114447271" "114447271" "subst" "0.00162427" "01943" "AP4B1_000035" "g.114447271T>C" "" "" "" "AP4B1(NM_006594.4):c.69A>G (p.Q23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113904649T>C" "" "benign" "" "0000502557" "0" "50" "1" "114448281" "114448281" "subst" "0" "01943" "AP4B1_000036" "g.114448281C>A" "" "" "" "DCLRE1B(NM_022836.4):c.73C>A (p.R25S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113905659C>A" "" "VUS" "" "0000604669" "0" "90" "1" "114444402" "114444402" "del" "8.12143E-6" "02325" "AP4B1_000016" "g.114444402del" "" "" "" "AP4B1(NM_006594.5):c.444delT (p.H148Qfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113901780del" "" "pathogenic" "" "0000604670" "0" "90" "1" "114444403" "114444403" "subst" "1.62427E-5" "02325" "AP4B1_000044" "g.114444403T>G" "" "" "" "AP4B1(NM_006594.5):c.443A>C (p.H148P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113901781T>G" "" "pathogenic" "" "0000604672" "0" "50" "1" "114445387" "114445387" "subst" "4.06055E-6" "01943" "AP4B1_000045" "g.114445387A>G" "" "" "" "AP4B1(NM_006594.4):c.211T>C (p.Y71H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113902765A>G" "" "VUS" "" "0000620354" "0" "30" "1" "114401704" "114401704" "subst" "0.00164529" "01943" "AP4B1_000025" "g.114401704T>C" "" "" "" "PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113859082T>C" "" "likely benign" "" "0000620355" "0" "50" "1" "114442746" "114442746" "subst" "2.84257E-5" "01943" "AP4B1_000043" "g.114442746A>T" "" "" "" "AP4B1(NM_006594.4):c.894T>A (p.C298*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113900124A>T" "" "VUS" "" "0000647337" "1" "50" "1" "114372214" "114372214" "subst" "0.00595808" "03575" "PTPN22_000003" "g.114372214C>G" "41/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "41 heterozygous, no homozygous; {DB:CLININrs56048322}" "Germline" "" "rs56048322" "0" "" "" "g.113829592C>G" "" "VUS" "" "0000653593" "0" "30" "1" "114394645" "114394645" "subst" "0.000301691" "02325" "AP4B1_000047" "g.114394645A>C" "" "" "" "PTPN22(NM_015967.6):c.828+4T>G, PTPN22(NM_015967.8):c.828+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113852023A>C" "" "likely benign" "" "0000653594" "0" "70" "1" "114443859" "114443859" "subst" "3.24865E-5" "02329" "AP4B1_000048" "g.114443859G>A" "" "" "" "AP4B1(NM_006594.5):c.616C>T (p.R206*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113901237G>A" "" "likely pathogenic" "" "0000653595" "0" "70" "1" "114445314" "114445314" "subst" "0" "01943" "AP4B1_000049" "g.114445314G>C" "" "" "" "AP4B1(NM_006594.4):c.284C>G (p.S95*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113902692G>C" "" "likely pathogenic" "" "0000653596" "0" "50" "1" "114445351" "114445351" "subst" "2.43637E-5" "01943" "AP4B1_000050" "g.114445351C>G" "" "" "" "AP4B1(NM_001253852.3):c.247G>C (p.(Ala83Pro)), AP4B1(NM_006594.4):c.247G>C (p.A83P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.113902729C>G" "" "VUS" "" "0000675409" "0" "30" "1" "114377006" "114377006" "subst" "4.46777E-5" "02326" "PTPN22_000010" "g.114377006A>G" "" "" "" "PTPN22(NM_015967.6):c.1950T>C (p.I650=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675410" "0" "30" "1" "114381242" "114381242" "subst" "1.22474E-5" "01804" "PTPN22_000011" "g.114381242T>C" "" "" "" "PTPN22(NM_001193431.1):c.916A>G (p.(Ser306Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687816" "0" "50" "1" "114357580" "114357580" "subst" "1.66317E-5" "01943" "PTPN22_000012" "g.114357580G>A" "" "" "" "PTPN22(NM_015967.6):c.2371C>T (p.R791C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000687817" "0" "30" "1" "114394645" "114394645" "subst" "0.000301691" "01943" "AP4B1_000047" "g.114394645A>C" "" "" "" "PTPN22(NM_015967.6):c.828+4T>G, PTPN22(NM_015967.8):c.828+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716696" "0" "50" "1" "114372214" "114372214" "subst" "0.00595808" "02325" "PTPN22_000003" "g.114372214C>G" "" "" "" "PTPN22(NM_015967.6):c.2250G>C (p.K750N), PTPN22(NM_015967.8):c.2250G>C (p.K750N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716697" "0" "50" "1" "114399229" "114399229" "subst" "0.000182902" "01943" "AP4B1_000056" "g.114399229G>A" "" "" "" "PTPN22(NM_015967.6):c.421C>T (p.R141C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716698" "0" "30" "1" "114401142" "114401142" "subst" "0" "01943" "AP4B1_000057" "g.114401142G>A" "" "" "" "PTPN22(NM_015967.6):c.327C>T (p.T109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716699" "0" "30" "1" "114401704" "114401704" "subst" "0.00164529" "02325" "AP4B1_000025" "g.114401704T>C" "" "" "" "PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716700" "0" "30" "1" "114438446" "114438446" "subst" "0.000536093" "01943" "AP4B1_000058" "g.114438446G>A" "" "" "" "AP4B1(NM_006594.4):c.1725C>T (p.I575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798676" "0" "30" "1" "114380321" "114380321" "subst" "0.000654195" "02326" "PTPN22_000007" "g.114380321C>T" "" "" "" "PTPN22(NM_015967.6):c.1701G>A (p.L567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798677" "0" "30" "1" "114380914" "114380914" "subst" "0.00220666" "02325" "PTPN22_000008" "g.114380914G>T" "" "" "" "PTPN22(NM_015967.6):c.1108C>A (p.H370N), PTPN22(NM_015967.8):c.1108C>A (p.H370N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798678" "0" "30" "1" "114397554" "114397554" "subst" "3.25061E-5" "01943" "AP4B1_000061" "g.114397554T>C" "" "" "" "PTPN22(NM_015967.6):c.658A>G (p.S220G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798679" "0" "30" "1" "114441334" "114441334" "subst" "0" "01943" "AP4B1_000062" "g.114441334C>T" "" "" "" "AP4B1(NM_006594.4):c.1198+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798680" "0" "50" "1" "114442885" "114442885" "subst" "0.00115003" "02325" "AP4B1_000033" "g.114442885A>G" "" "" "" "AP4B1(NM_006594.4):c.755T>C (p.V252A), AP4B1(NM_006594.5):c.755T>C (p.V252A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798681" "0" "50" "1" "114448281" "114448281" "subst" "0" "02325" "AP4B1_000036" "g.114448281C>A" "" "" "" "DCLRE1B(NM_022836.4):c.73C>A (p.R25S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848236" "0" "90" "1" "114443859" "114443859" "subst" "3.24865E-5" "02327" "AP4B1_000048" "g.114443859G>A" "" "" "" "AP4B1(NM_006594.5):c.616C>T (p.R206*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848237" "0" "30" "1" "114445241" "114445244" "del" "0" "02326" "AP4B1_000067" "g.114445241_114445244del" "" "" "" "AP4B1(NM_006594.5):c.338+20_338+23delTCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856888" "0" "30" "1" "114391219" "114391219" "subst" "0.000317535" "01943" "PTPN22_000013" "g.114391219T>C" "" "" "" "PTPN22(NM_015967.6):c.858A>G (p.V286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882690" "0" "30" "1" "114376985" "114376985" "subst" "0.000796043" "02326" "PTPN22_000014" "g.114376985A>T" "" "" "" "PTPN22(NM_015967.6):c.1971T>A (p.G657=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882691" "0" "50" "1" "114377561" "114377561" "subst" "0.000196245" "02329" "PTPN22_000015" "g.114377561G>C" "" "" "" "PTPN22(NM_015967.6):c.1865C>G (p.P622R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882692" "0" "30" "1" "114380591" "114380591" "subst" "0.000121876" "02326" "PTPN22_000016" "g.114380591A>G" "" "" "" "PTPN22(NM_015967.6):c.1431T>C (p.H477=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882693" "0" "30" "1" "114391219" "114391219" "subst" "0.000317535" "02326" "PTPN22_000013" "g.114391219T>C" "" "" "" "PTPN22(NM_015967.6):c.858A>G (p.V286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882694" "0" "30" "1" "114442885" "114442885" "subst" "0.00115003" "02326" "AP4B1_000033" "g.114442885A>G" "" "" "" "AP4B1(NM_006594.4):c.755T>C (p.V252A), AP4B1(NM_006594.5):c.755T>C (p.V252A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910746" "0" "10" "1" "114402023" "114402023" "subst" "0.00171503" "02326" "AP4B1_000026" "g.114402023A>G" "" "" "" "PTPN22(NM_015967.6):c.147T>C (p.A49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000922918" "0" "30" "1" "114397636" "114397636" "subst" "0.00010159" "02326" "AP4B1_000070" "g.114397636A>G" "" "" "" "PTPN22(NM_015967.6):c.576T>C (p.N192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927981" "0" "70" "1" "114441425" "114441425" "subst" "0" "02327" "AP4B1_000011" "g.114441425T>C" "" "" "" "AP4B1(NM_006594.5):c.1115-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000946933" "0" "50" "1" "114439059" "114439059" "subst" "0" "02329" "AP4B1_000021" "g.114439059C>A" "" "" "" "AP4B1(NM_006594.5):c.1331G>T (p.G444V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946934" "0" "50" "1" "114445279" "114445279" "subst" "8.12269E-6" "02329" "AP4B1_000017" "g.114445279G>A" "" "" "" "AP4B1(NM_001253852.3):c.319C>T (p.(Arg107Trp)), AP4B1(NM_006594.5):c.319C>T (p.R107W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960387" "0" "10" "1" "114439025" "114439025" "subst" "0.0153679" "02326" "AP4B1_000073" "g.114439025A>G" "" "" "" "AP4B1(NM_006594.5):c.1365T>C (p.Y455=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973192" "0" "30" "1" "114380508" "114380508" "subst" "0.00287219" "01804" "PTPN22_000017" "g.114380508G>C" "" "" "" "PTPN22(NM_015967.7):c.1514C>G (p.(Ser505Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973193" "0" "30" "1" "114401704" "114401704" "subst" "0.00164529" "01804" "AP4B1_000025" "g.114401704T>C" "" "" "" "PTPN22(NM_015967.6):c.197-4A>G, PTPN22(NM_015967.7):c.197-4A>G, PTPN22(NM_015967.8):c.197-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973194" "0" "50" "1" "114445351" "114445351" "subst" "2.43637E-5" "01804" "AP4B1_000050" "g.114445351C>G" "" "" "" "AP4B1(NM_001253852.3):c.247G>C (p.(Ala83Pro)), AP4B1(NM_006594.4):c.247G>C (p.A83P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990125" "0" "50" "1" "114401177" "114401177" "subst" "1.32035E-5" "02325" "AP4B1_000074" "g.114401177C>G" "" "" "" "PTPN22(NM_015967.8):c.292G>C (p.A98P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990126" "0" "90" "1" "114443898" "114443898" "subst" "7.30917E-5" "02327" "AP4B1_000054" "g.114443898C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001031071" "0" "50" "1" "114377587" "114377587" "del" "0" "01804" "PTPN22_000018" "g.114377587del" "" "" "" "PTPN22(NM_015967.7):c.1844del (p.(Pro615Leufs*32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031072" "0" "30" "1" "114380395" "114380395" "subst" "0.000609271" "01804" "PTPN22_000019" "g.114380395T>C" "" "" "" "PTPN22(NM_015967.7):c.1627A>G (p.(Ser543Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031073" "0" "30" "1" "114402193" "114402193" "subst" "0" "01804" "AP4B1_000075" "g.114402193T>C" "" "" "" "PTPN22(NM_015967.7):c.88-111A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031074" "0" "50" "1" "114438645" "114438645" "subst" "1.6253E-5" "01804" "AP4B1_000076" "g.114438645A>G" "" "" "" "AP4B1(NM_001253852.3):c.1526T>C (p.(Met509Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031075" "0" "50" "1" "114445279" "114445279" "subst" "8.12269E-6" "01804" "AP4B1_000017" "g.114445279G>A" "" "" "" "AP4B1(NM_001253852.3):c.319C>T (p.(Arg107Trp)), AP4B1(NM_006594.5):c.319C>T (p.R107W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001050196" "0" "30" "1" "114447558" "114447558" "subst" "0" "01804" "AP4B1_000077" "g.114447558C>T" "" "" "" "AP4B1(NM_006594.5):c.-77+6G>A" "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 PTPN22 ## Count = 102 "{{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}}" "0000248832" "00017153" "10" "-24706" "0" "-24706" "0" "c.-24706T>C" "r.(?)" "p.(=)" "" "0000250514" "00017153" "90" "-30157" "0" "-30157" "0" "c.-30157del" "r.(?)" "p.(=)" "" "0000256587" "00017153" "50" "-29706" "0" "-29706" "0" "c.-29706T>C" "r.(?)" "p.(=)" "" "0000259105" "00017153" "10" "-28790" "0" "-28790" "0" "c.-28790G>C" "r.(?)" "p.(=)" "" "0000259506" "00017153" "30" "-24203" "0" "-24203" "0" "c.-24203A>G" "r.(?)" "p.(=)" "" "0000259666" "00017153" "50" "-31034" "0" "-31034" "0" "c.-31034C>T" "r.(?)" "p.(=)" "" "0000261008" "00017153" "90" "-27180" "0" "-27180" "0" "c.-27180A>G" "r.(?)" "p.(=)" "" "0000262560" "00017153" "90" "-27133" "0" "-27132" "0" "c.-27133_-27132del" "r.(?)" "p.(=)" "" "0000262561" "00017153" "30" "-24827" "0" "-24827" "0" "c.-24827A>C" "r.(?)" "p.(=)" "" "0000262562" "00017153" "50" "-24701" "0" "-24701" "0" "c.-24701C>T" "r.(?)" "p.(=)" "" "0000262563" "00017153" "30" "-24203" "0" "-24203" "0" "c.-24203A>G" "r.(?)" "p.(=)" "" "0000262564" "00017153" "50" "-31178" "0" "-31178" "0" "c.-31178A>G" "r.(?)" "p.(=)" "" "0000262565" "00017153" "10" "-31113" "0" "-31113" "0" "c.-31113A>G" "r.(?)" "p.(=)" "" "0000262566" "00017153" "30" "-29660" "0" "-29660" "0" "c.-29660A>G" "r.(?)" "p.(=)" "" "0000262567" "00017153" "30" "-28483" "0" "-28483" "0" "c.-28483G>A" "r.(?)" "p.(=)" "" "0000306608" "00017153" "30" "1366" "0" "1366" "0" "c.1366C>G" "r.(?)" "p.(Gln456Glu)" "" "0000320913" "00017153" "50" "-23847" "0" "-23847" "0" "c.-23847C>A" "r.(?)" "p.(=)" "" "0000337025" "00017153" "10" "-28790" "0" "-28790" "0" "c.-28790G>C" "r.(?)" "p.(=)" "" "0000340779" "00017153" "10" "-29654" "0" "-29654" "0" "c.-29654C>T" "r.(?)" "p.(=)" "" "0000346080" "00017153" "50" "-24814" "0" "-24814" "0" "c.-24814G>T" "r.(?)" "p.(=)" "" "0000348937" "00017153" "50" "-28427" "0" "-28427" "0" "c.-28427C>T" "r.(?)" "p.(=)" "" "0000349390" "00017153" "50" "-28628" "0" "-28628" "0" "c.-28628C>T" "r.(?)" "p.(=)" "" "0000405276" "00017153" "00" "1858" "0" "1858" "0" "c.1858T>C" "" "" "" "0000436530" "00017153" "30" "1858" "0" "1858" "0" "c.1858=" "r.(=)" "p.(=)" "14" "0000436533" "00017153" "70" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Trp)" "14" "0000436534" "00017153" "30" "1858" "0" "1858" "0" "c.1858=" "r.(=)" "p.(=)" "14" "0000438218" "00017153" "70" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Trp)" "14" "0000438223" "00017153" "70" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Trp)" "14" "0000438224" "00017153" "30" "1858" "0" "1858" "0" "c.1858=" "r.(=)" "p.(=)" "14" "0000438225" "00017153" "30" "1858" "0" "1858" "0" "c.1858=" "r.(=)" "p.(=)" "14" "0000438226" "00017153" "70" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Trp)" "14" "0000502536" "00017153" "30" "2250" "0" "2250" "0" "c.2250G>C" "r.(?)" "p.(Lys750Asn)" "" "0000502537" "00017153" "30" "2250" "0" "2250" "0" "c.2250G>C" "r.(?)" "p.(Lys750Asn)" "" "0000502538" "00017153" "30" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Glu719Lys)" "" "0000502540" "00017153" "30" "1742" "0" "1742" "0" "c.1742A>G" "r.(?)" "p.(His581Arg)" "" "0000502541" "00017153" "30" "1701" "0" "1701" "0" "c.1701G>A" "r.(?)" "p.(Leu567=)" "" "0000502542" "00017153" "30" "1108" "0" "1108" "0" "c.1108C>A" "r.(?)" "p.(His370Asn)" "" "0000502543" "00017153" "30" "860" "0" "860" "0" "c.860T>C" "r.(?)" "p.(Leu287Ser)" "" "0000502544" "00017153" "30" "197" "-4" "197" "-4" "c.197-4A>G" "r.spl?" "p.?" "" "0000502545" "00017153" "10" "147" "0" "147" "0" "c.147T>C" "r.(?)" "p.(Ala49=)" "" "0000502546" "00017153" "30" "-23658" "0" "-23658" "0" "c.-23658C>T" "r.(?)" "p.(=)" "" "0000502547" "00017153" "30" "-24223" "0" "-24223" "0" "c.-24223G>A" "r.(?)" "p.(=)" "" "0000502548" "00017153" "30" "-24282" "0" "-24282" "0" "c.-24282G>A" "r.(?)" "p.(=)" "" "0000502549" "00017153" "50" "-24367" "0" "-24367" "0" "c.-24367G>A" "r.(?)" "p.(=)" "" "0000502550" "00017153" "50" "-24814" "0" "-24814" "0" "c.-24814G>T" "r.(?)" "p.(=)" "" "0000502551" "00017153" "30" "-26271" "0" "-26271" "0" "c.-26271T>C" "r.(?)" "p.(=)" "" "0000502552" "00017153" "30" "-27104" "0" "-27104" "0" "c.-27104A>G" "r.(?)" "p.(=)" "" "0000502553" "00017153" "50" "-28427" "0" "-28427" "0" "c.-28427C>T" "r.(?)" "p.(=)" "" "0000502554" "00017153" "30" "-28640" "0" "-28640" "0" "c.-28640T>C" "r.(?)" "p.(=)" "" "0000502555" "00017153" "30" "-30240" "0" "-30240" "0" "c.-30240A>G" "r.(?)" "p.(=)" "" "0000502556" "00017153" "10" "-33026" "0" "-33026" "0" "c.-33026A>G" "r.(?)" "p.(=)" "" "0000502557" "00017153" "50" "-34036" "0" "-34036" "0" "c.-34036G>T" "r.(?)" "p.(=)" "" "0000604669" "00017153" "90" "-30157" "0" "-30157" "0" "c.-30157del" "r.(?)" "p.(=)" "" "0000604670" "00017153" "90" "-30158" "0" "-30158" "0" "c.-30158A>C" "r.(?)" "p.(=)" "" "0000604672" "00017153" "50" "-31142" "0" "-31142" "0" "c.-31142T>C" "r.(?)" "p.(=)" "" "0000620354" "00017153" "30" "197" "-4" "197" "-4" "c.197-4A>G" "r.spl?" "p.?" "" "0000620355" "00017153" "50" "-28501" "0" "-28501" "0" "c.-28501T>A" "r.(?)" "p.(=)" "" "0000647337" "00017153" "50" "2250" "0" "2250" "0" "c.2250G>C" "r.(?)" "p.(Lys750Asn)" "" "0000653593" "00017153" "30" "828" "4" "828" "4" "c.828+4T>G" "r.spl?" "p.?" "" "0000653594" "00017153" "70" "-29614" "0" "-29614" "0" "c.-29614C>T" "r.(?)" "p.(=)" "" "0000653595" "00017153" "70" "-31069" "0" "-31069" "0" "c.-31069C>G" "r.(?)" "p.(=)" "" "0000653596" "00017153" "50" "-31106" "0" "-31106" "0" "c.-31106G>C" "r.(?)" "p.(=)" "" "0000675409" "00017153" "30" "1950" "0" "1950" "0" "c.1950T>C" "r.(?)" "p.(Ile650=)" "" "0000675410" "00017153" "30" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ser306Gly)" "" "0000687816" "00017153" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Cys)" "" "0000687817" "00017153" "30" "828" "4" "828" "4" "c.828+4T>G" "r.spl?" "p.?" "" "0000716696" "00017153" "50" "2250" "0" "2250" "0" "c.2250G>C" "r.(?)" "p.(Lys750Asn)" "" "0000716697" "00017153" "50" "421" "0" "421" "0" "c.421C>T" "r.(?)" "p.(Arg141Cys)" "" "0000716698" "00017153" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Thr109=)" "" "0000716699" "00017153" "30" "197" "-4" "197" "-4" "c.197-4A>G" "r.spl?" "p.?" "" "0000716700" "00017153" "30" "-24201" "0" "-24201" "0" "c.-24201C>T" "r.(?)" "p.(=)" "" "0000798676" "00017153" "30" "1701" "0" "1701" "0" "c.1701G>A" "r.(?)" "p.(Leu567=)" "" "0000798677" "00017153" "30" "1108" "0" "1108" "0" "c.1108C>A" "r.(?)" "p.(His370Asn)" "" "0000798678" "00017153" "30" "658" "0" "658" "0" "c.658A>G" "r.(?)" "p.(Ser220Gly)" "" "0000798679" "00017153" "30" "-27089" "0" "-27089" "0" "c.-27089G>A" "r.(?)" "p.(=)" "" "0000798680" "00017153" "50" "-28640" "0" "-28640" "0" "c.-28640T>C" "r.(?)" "p.(=)" "" "0000798681" "00017153" "50" "-34036" "0" "-34036" "0" "c.-34036G>T" "r.(?)" "p.(=)" "" "0000848236" "00017153" "90" "-29614" "0" "-29614" "0" "c.-29614C>T" "r.(?)" "p.(=)" "" "0000848237" "00017153" "30" "-30995" "0" "-30992" "0" "c.-30995_-30992del" "r.(?)" "p.(=)" "" "0000856888" "00017153" "30" "858" "0" "858" "0" "c.858A>G" "r.(?)" "p.(Val286=)" "" "0000882690" "00017153" "30" "1971" "0" "1971" "0" "c.1971T>A" "r.(?)" "p.(Gly657=)" "" "0000882691" "00017153" "50" "1865" "0" "1865" "0" "c.1865C>G" "r.(?)" "p.(Pro622Arg)" "" "0000882692" "00017153" "30" "1431" "0" "1431" "0" "c.1431T>C" "r.(?)" "p.(His477=)" "" "0000882693" "00017153" "30" "858" "0" "858" "0" "c.858A>G" "r.(?)" "p.(Val286=)" "" "0000882694" "00017153" "30" "-28640" "0" "-28640" "0" "c.-28640T>C" "r.(?)" "p.(=)" "" "0000910746" "00017153" "10" "147" "0" "147" "0" "c.147T>C" "r.(?)" "p.(Ala49=)" "" "0000922918" "00017153" "30" "576" "0" "576" "0" "c.576T>C" "r.(?)" "p.(Asn192=)" "" "0000927981" "00017153" "70" "-27180" "0" "-27180" "0" "c.-27180A>G" "r.(?)" "p.(=)" "" "0000946933" "00017153" "50" "-24814" "0" "-24814" "0" "c.-24814G>T" "r.(?)" "p.(=)" "" "0000946934" "00017153" "50" "-31034" "0" "-31034" "0" "c.-31034C>T" "r.(?)" "p.(=)" "" "0000960387" "00017153" "10" "-24780" "0" "-24780" "0" "c.-24780T>C" "r.(?)" "p.(=)" "" "0000973192" "00017153" "30" "1514" "0" "1514" "0" "c.1514C>G" "r.(?)" "p.(Ser505Cys)" "" "0000973193" "00017153" "30" "197" "-4" "197" "-4" "c.197-4A>G" "r.spl?" "p.?" "" "0000973194" "00017153" "50" "-31106" "0" "-31106" "0" "c.-31106G>C" "r.(?)" "p.(=)" "" "0000990125" "00017153" "50" "292" "0" "292" "0" "c.292G>C" "r.(?)" "p.(Ala98Pro)" "" "0000990126" "00017153" "90" "-29653" "0" "-29653" "0" "c.-29653G>A" "r.(?)" "p.(=)" "" "0001031071" "00017153" "50" "1844" "0" "1844" "0" "c.1844del" "r.(?)" "p.(Pro615Leufs*32)" "" "0001031072" "00017153" "30" "1627" "0" "1627" "0" "c.1627A>G" "r.(?)" "p.(Ser543Gly)" "" "0001031073" "00017153" "30" "88" "-111" "88" "-111" "c.88-111A>G" "r.(=)" "p.(=)" "" "0001031074" "00017153" "50" "-24400" "0" "-24400" "0" "c.-24400T>C" "r.(?)" "p.(=)" "" "0001031075" "00017153" "50" "-31034" "0" "-31034" "0" "c.-31034C>T" "r.(?)" "p.(=)" "" "0001050196" "00017153" "30" "-33313" "0" "-33313" "0" "c.-33313G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000181580" "0000405276" "0000206885" "0000436530" "0000206887" "0000436533" "0000206888" "0000436534" "0000208384" "0000438218" "0000208388" "0000438223" "0000208389" "0000438224" "0000208390" "0000438225" "0000208391" "0000438226" "0000290648" "0000647337"