### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AIRE) # 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}}" "AIRE" "autoimmune regulator" "21" "q22.3" "unknown" "NG_009556.1" "UD_134408249705" "" "https://www.LOVD.nl/AIRE" "" "1" "360" "326" "607358" "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/AIRE_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-05 15:07:47" "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}}" "00002286" "AIRE" "autoimmune regulator" "001" "NM_000383.3" "" "NP_000374.1" "" "" "" "-169" "2130" "1638" "45705721" "45718102" "" "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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01860" "APS1" "polyendocrinopathy autoimmune, type 1, with/without reversible metaphyseal dysplasia (APS1)" "AD;AR" "240300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AIRE" "01860" ## Individuals ## Do not remove or alter this header ## ## Count = 305 "{{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}}" "00249883" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249884" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249885" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249886" "" "" "" "1" "" "02977" "{PMID:Podkrajsek 2008:18682433}" "" "M" "" "Slovenia" "" "0" "" "" "" "FamCPat4" "00249887" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249888" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249889" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249890" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249891" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249892" "" "" "" "1" "" "02977" "{PMID:Podkrajsek 2008:18682433}" "" "F" "" "Serbia" "" "0" "" "" "" "FamHPat8" "00249893" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249894" "" "" "" "2" "" "02977" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "{PMID:Podkrajsek 2008:18682433}" "F;M" "no" "Netherlands" "" "0" "" "" "" "FamAPat1/2" "00249895" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249896" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249897" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249898" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249899" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249900" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249901" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249902" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249904" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249905" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249906" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249907" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249908" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249909" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249910" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249911" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249912" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249914" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249915" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249916" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249917" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249918" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249919" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249920" "" "" "" "1" "" "02977" "" "" "" "" "Italy" "" "0" "" "" "" "" "00249921" "" "" "" "1" "" "02977" "" "" "" "" "Poland" "" "0" "" "" "" "" "00249922" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249923" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249924" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249925" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249926" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249927" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249928" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249929" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249930" "" "" "" "2" "" "02977" "" "2 patients" "" "" "Finland" "" "0" "" "" "" "" "00249931" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249932" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249933" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249934" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249935" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249936" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249937" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249938" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249939" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249940" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249941" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249942" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249944" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249945" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249946" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249947" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249948" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249949" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249950" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249951" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249952" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249953" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249954" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249955" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249956" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249957" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249958" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249959" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249960" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249961" "" "" "" "1" "" "02977" "{PMID:Podkrajsek 2008:18682433}" "" "M" "" "Serbia" "" "0" "" "" "" "FamFPat6" "00249962" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249963" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249964" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249965" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249966" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249967" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249968" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249969" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249970" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249971" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249972" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249973" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249974" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249975" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249976" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249977" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249978" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249979" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249980" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249981" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249982" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249983" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249984" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249985" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249986" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249987" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249988" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249989" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249990" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249991" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249992" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249993" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249994" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249995" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249996" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249997" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249998" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00249999" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250000" "" "" "" "8" "" "02977" "" "" "" "" "Finland" "" "0" "" "" "" "" "00250001" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250002" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250003" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250004" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250005" "" "" "" "6" "" "02977" "" "" "" "" "Poland" "" "0" "" "" "" "" "00250006" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250007" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250008" "" "" "" "1" "" "02977" "{PMID:Podkrajsek 2008:18682433}" "" "F" "" "Serbia" "" "0" "" "" "" "FamGPat7" "00250009" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250010" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250011" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250012" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250013" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250014" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250015" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250016" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250017" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250018" "" "" "" "5" "" "02977" "" "" "" "" "United States" "" "0" "" "" "" "" "00250019" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250020" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250021" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250022" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250023" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250024" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250025" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250026" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250027" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250028" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250029" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250030" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250031" "" "" "" "1" "" "02977" "" "" "" "" "Germany" "" "0" "" "" "" "" "00250032" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250033" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250034" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250035" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250036" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250037" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250038" "" "" "" "1" "" "02977" "{PMID:Podkrajsek 2008:18682433}" "" "M" "" "Netherlands" "" "0" "" "" "" "FamAFather" "00250039" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250040" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250041" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250042" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250043" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250044" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250045" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250046" "" "" "" "1" "" "02977" "{PMID:Podkrajsek 2008:18682433}" "" "F" "" "Serbia" "" "0" "" "" "" "FamEPat5" "00250047" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250048" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250049" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250050" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250051" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250052" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250053" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250054" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250055" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250056" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250057" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250058" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250059" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250060" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250061" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250062" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250063" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250064" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250065" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250066" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250067" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250068" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250069" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250070" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250071" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250072" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250073" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250074" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250075" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250076" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250077" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250078" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250079" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250080" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250081" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250082" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250083" "" "" "" "1" "" "02977" "{PMID:Podkrajsek 2008:18682433}" "" "M" "" "Netherlands" "" "0" "" "" "" "FamBPat3" "00250084" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250085" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250086" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250087" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250088" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250089" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250090" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250091" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250092" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250093" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250094" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250095" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250096" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250097" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250098" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250099" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250100" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250101" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250102" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250103" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250104" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250106" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250107" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250108" "" "" "" "2" "" "02984" "{PMID:Björses 2000:10677297}" "On a total of 224 alleles from 112 APS1/APECED patients, this variant was found in 2 out of 126 alleles from 63 Finnish patients.\r\nThe number of independent families was not specified.\r\nThe number of homozygous and heterozygous patients was not specified.\r\nIt is possible an overlap with other cohorts of APS1/APECED patients." "?" "no" "Finland" "" "0" "" "" "" "" "00250109" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250110" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250111" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250112" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250113" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250114" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250115" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250116" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250118" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250119" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250121" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250122" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250123" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250124" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250125" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250126" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250127" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250128" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250129" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250130" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250131" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250132" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250133" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250134" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250135" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250136" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250137" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250138" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250139" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250140" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250141" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250142" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250143" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250144" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250145" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250146" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250147" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250148" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250149" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250150" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250151" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250152" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250154" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250155" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250156" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250157" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250158" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250159" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250160" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250161" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250162" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250163" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250164" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250165" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250166" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250168" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250169" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250170" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250171" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250172" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250173" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250174" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250175" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250176" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250177" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250178" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250179" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250180" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250181" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250182" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250183" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250184" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00250185" "" "" "" "1" "" "02977" "" "" "" "" "" "" "0" "" "" "" "" "00293018" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293019" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293020" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293022" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293023" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309882" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00384842" "" "" "" "1" "" "00006" "{PMID:Podkrajsek 2008:18682433}" "" "M" "" "Serbia" "" "0" "" "" "" "FamIPat9" "00384843" "" "" "" "2" "" "00006" "{PMID:Podkrajsek 2008:18682433}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "Serbia" "" "0" "" "" "" "FamJPat10/11" "00419575" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9025" "00447659" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "BVMD-115" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 305 "{{individualid}}" "{{diseaseid}}" "00249883" "00198" "00249884" "00198" "00249885" "00198" "00249886" "01860" "00249887" "00198" "00249888" "00198" "00249889" "00198" "00249890" "00198" "00249891" "00198" "00249892" "01860" "00249893" "00198" "00249894" "01860" "00249895" "00198" "00249896" "00198" "00249897" "00198" "00249898" "00198" "00249899" "00198" "00249900" "00198" "00249901" "00198" "00249902" "00198" "00249904" "00198" "00249905" "00198" "00249906" "00198" "00249907" "00198" "00249908" "00198" "00249909" "00198" "00249910" "00198" "00249911" "00198" "00249912" "00198" "00249914" "00198" "00249915" "00198" "00249916" "00198" "00249917" "00198" "00249918" "00198" "00249919" "00198" "00249920" "01860" "00249921" "01860" "00249922" "00198" "00249923" "00198" "00249924" "00198" "00249925" "00198" "00249926" "01860" "00249927" "00198" "00249928" "00198" "00249929" "00198" "00249930" "01860" "00249931" "00198" "00249932" "00198" "00249933" "00198" "00249934" "00198" "00249935" "00198" "00249936" "00198" "00249937" "00198" "00249938" "00198" "00249939" "00198" "00249940" "00198" "00249941" "00198" "00249942" "00198" "00249944" "00198" "00249945" "00198" "00249946" "00198" "00249947" "00198" "00249948" "00198" "00249949" "00198" "00249950" "00198" "00249951" "00198" "00249952" "00198" "00249953" "00198" "00249954" "00198" "00249955" "00198" "00249956" "00198" "00249957" "00198" "00249958" "00198" "00249959" "00198" "00249960" "00198" "00249961" "01860" "00249962" "00198" "00249963" "00198" "00249964" "00198" "00249965" "00198" "00249966" "00198" "00249967" "00198" "00249968" "00198" "00249969" "00198" "00249970" "00198" "00249971" "00198" "00249972" "00198" "00249973" "00198" "00249974" "00198" "00249975" "00198" "00249976" "00198" "00249977" "00198" "00249978" "00198" "00249979" "00198" "00249980" "00198" "00249981" "00198" "00249982" "00198" "00249983" "00198" "00249984" "00198" "00249985" "00198" "00249986" "00198" "00249987" "00198" "00249988" "00198" "00249989" "00198" "00249990" "00198" "00249991" "00198" "00249992" "00198" "00249993" "00198" "00249994" "00198" "00249995" "00198" "00249996" "00198" "00249997" "00198" "00249998" "00198" "00249999" "00198" "00250000" "01860" "00250001" "00198" "00250002" "00198" "00250003" "00198" "00250004" "00198" "00250005" "01860" "00250006" "00198" "00250007" "00198" "00250008" "01860" "00250009" "00198" "00250010" "00198" "00250011" "00198" "00250012" "00198" "00250013" "00198" "00250014" "00198" "00250015" "00198" "00250016" "00198" "00250017" "00198" "00250018" "01860" "00250019" "00198" "00250020" "00198" "00250021" "00198" "00250022" "00198" "00250023" "00198" "00250024" "00198" "00250025" "00198" "00250026" "00198" "00250027" "00198" "00250028" "00198" "00250029" "00198" "00250030" "00198" "00250031" "01860" "00250032" "00198" "00250033" "00198" "00250034" "00198" "00250035" "00198" "00250036" "00198" "00250037" "00198" "00250038" "00000" "00250039" "00198" "00250040" "00198" "00250041" "00198" "00250042" "00198" "00250043" "00198" "00250044" "00198" "00250045" "00198" "00250046" "01860" "00250047" "00198" "00250048" "00198" "00250049" "00198" "00250050" "00198" "00250051" "00198" "00250052" "00198" "00250053" "00198" "00250054" "00198" "00250055" "00198" "00250056" "00198" "00250057" "00198" "00250058" "00198" "00250059" "00198" "00250060" "00198" "00250061" "00198" "00250062" "00198" "00250063" "00198" "00250064" "00198" "00250065" "00198" "00250066" "00198" "00250067" "00198" "00250068" "00198" "00250069" "00198" "00250070" "00198" "00250071" "00198" "00250072" "00198" "00250073" "00198" "00250074" "00198" "00250075" "00198" "00250076" "00198" "00250077" "00198" "00250078" "00198" "00250079" "00198" "00250080" "00198" "00250081" "00198" "00250082" "00198" "00250083" "01860" "00250084" "00198" "00250085" "00198" "00250086" "00198" "00250087" "00198" "00250088" "00198" "00250089" "00198" "00250090" "00198" "00250091" "00198" "00250092" "00198" "00250093" "00198" "00250094" "00198" "00250095" "00198" "00250096" "00198" "00250097" "00198" "00250098" "00198" "00250099" "00198" "00250100" "00198" "00250101" "00198" "00250102" "00198" "00250103" "00198" "00250104" "00198" "00250106" "00198" "00250107" "00198" "00250108" "01860" "00250109" "00198" "00250110" "00198" "00250111" "00198" "00250112" "00198" "00250113" "00198" "00250114" "00198" "00250115" "00198" "00250116" "00198" "00250118" "00198" "00250119" "00198" "00250121" "00198" "00250122" "00198" "00250123" "00198" "00250124" "00198" "00250125" "00198" "00250126" "00198" "00250127" "00198" "00250128" "00198" "00250129" "00198" "00250130" "00198" "00250131" "00198" "00250132" "00198" "00250133" "00198" "00250134" "00198" "00250135" "00198" "00250136" "00198" "00250137" "00198" "00250138" "00198" "00250139" "00198" "00250140" "00198" "00250141" "00198" "00250142" "00198" "00250143" "00198" "00250144" "00198" "00250145" "00198" "00250146" "00198" "00250147" "00198" "00250148" "00198" "00250149" "00198" "00250150" "00198" "00250151" "00198" "00250152" "00198" "00250154" "00198" "00250155" "00198" "00250156" "00198" "00250157" "00198" "00250158" "00198" "00250159" "00198" "00250160" "00198" "00250161" "00198" "00250162" "00198" "00250163" "00198" "00250164" "00198" "00250165" "00198" "00250166" "00198" "00250168" "00198" "00250169" "00198" "00250170" "00198" "00250171" "00198" "00250172" "00198" "00250173" "00198" "00250174" "00198" "00250175" "00198" "00250176" "00198" "00250177" "00198" "00250178" "00198" "00250179" "00198" "00250180" "00198" "00250181" "00198" "00250182" "00198" "00250183" "00198" "00250184" "00198" "00250185" "00198" "00293018" "00198" "00293019" "00198" "00293020" "00198" "00293022" "00198" "00293023" "00198" "00309882" "00198" "00384842" "01860" "00384843" "01860" "00419575" "00198" "00447659" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01860 ## 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}}" "0000188745" "01860" "00249926" "02977" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000188747" "01860" "00250108" "02984" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235199" "00198" "00309882" "01164" "Unknown" "" "Hypothyroidism (HP:0000821)" "" "" "" "" "" "" "" "" "" "" "" "0000310856" "00198" "00419575" "02300" "Unknown" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "0000336858" "00198" "00447659" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Best vitelliform macular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 305 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000250990" "00249883" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250991" "00249884" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250992" "00249885" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250993" "00249886" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250994" "00249887" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250995" "00249888" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250996" "00249889" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250997" "00249890" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250998" "00249891" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000250999" "00249892" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251000" "00249893" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251001" "00249894" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251002" "00249895" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251003" "00249896" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251004" "00249897" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251005" "00249898" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251006" "00249899" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251007" "00249900" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251008" "00249901" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251009" "00249902" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251011" "00249904" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251012" "00249905" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251013" "00249906" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251014" "00249907" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251015" "00249908" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251016" "00249909" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251017" "00249910" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251018" "00249911" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251019" "00249912" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251021" "00249914" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251022" "00249915" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251023" "00249916" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251024" "00249917" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251025" "00249918" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251026" "00249919" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251027" "00249920" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251028" "00249921" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251029" "00249922" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251030" "00249923" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251031" "00249924" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251032" "00249925" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251033" "00249926" "1" "02977" "02977" "2012-01-23 23:31:10" "02977" "2013-02-15 19:24:21" "SEQ" "DNA" "" "" "0000251034" "00249927" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251035" "00249928" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251036" "00249929" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251037" "00249930" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251038" "00249931" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251039" "00249932" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251040" "00249933" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251041" "00249934" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251042" "00249935" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251043" "00249936" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251044" "00249937" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251045" "00249938" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251046" "00249939" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251047" "00249940" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251048" "00249941" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251049" "00249942" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251051" "00249944" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251052" "00249945" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251053" "00249946" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251054" "00249947" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251055" "00249948" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251056" "00249949" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251057" "00249950" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251058" "00249951" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251059" "00249952" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251060" "00249953" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251061" "00249954" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251062" "00249955" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251063" "00249956" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251064" "00249957" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251065" "00249958" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251066" "00249959" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251067" "00249960" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251068" "00249961" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251069" "00249962" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251070" "00249963" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251071" "00249964" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251072" "00249965" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251073" "00249966" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251074" "00249967" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251075" "00249968" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251076" "00249969" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251077" "00249970" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251078" "00249971" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251079" "00249972" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251080" "00249973" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251081" "00249974" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251082" "00249975" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251083" "00249976" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251084" "00249977" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251085" "00249978" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251086" "00249979" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251087" "00249980" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251088" "00249981" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251089" "00249982" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251090" "00249983" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251091" "00249984" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251092" "00249985" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251093" "00249986" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251094" "00249987" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251095" "00249988" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251096" "00249989" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251097" "00249990" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251098" "00249991" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251099" "00249992" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251100" "00249993" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251101" "00249994" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251102" "00249995" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251103" "00249996" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251104" "00249997" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251105" "00249998" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251106" "00249999" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251107" "00250000" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251108" "00250001" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251109" "00250002" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251110" "00250003" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251111" "00250004" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251112" "00250005" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251113" "00250006" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251114" "00250007" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251115" "00250008" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251116" "00250009" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251117" "00250010" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251118" "00250011" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251119" "00250012" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251120" "00250013" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251121" "00250014" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251122" "00250015" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251123" "00250016" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251124" "00250017" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251125" "00250018" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251126" "00250019" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251127" "00250020" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251128" "00250021" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251129" "00250022" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251130" "00250023" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251131" "00250024" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251132" "00250025" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251133" "00250026" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251134" "00250027" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251135" "00250028" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251136" "00250029" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251137" "00250030" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251138" "00250031" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251139" "00250032" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251140" "00250033" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251141" "00250034" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251142" "00250035" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251143" "00250036" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251144" "00250037" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251145" "00250038" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251146" "00250039" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251147" "00250040" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251148" "00250041" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251149" "00250042" "1" "02977" "02977" "2012-01-23 23:31:11" "" "" "SEQ" "DNA" "" "" "0000251150" "00250043" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251151" "00250044" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251152" "00250045" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251153" "00250046" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251154" "00250047" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251155" "00250048" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251156" "00250049" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251157" "00250050" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251158" "00250051" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251159" "00250052" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251160" "00250053" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251161" "00250054" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251162" "00250055" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251163" "00250056" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251164" "00250057" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251165" "00250058" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251166" "00250059" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251167" "00250060" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251168" "00250061" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251169" "00250062" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251170" "00250063" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251171" "00250064" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251172" "00250065" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251173" "00250066" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251174" "00250067" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251175" "00250068" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251176" "00250069" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251177" "00250070" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251178" "00250071" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251179" "00250072" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251180" "00250073" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251181" "00250074" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251182" "00250075" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251183" "00250076" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251184" "00250077" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251185" "00250078" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251186" "00250079" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251187" "00250080" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251188" "00250081" "1" "02977" "02977" "2012-01-28 13:29:04" "" "" "SEQ" "DNA" "" "" "0000251189" "00250082" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251190" "00250083" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251191" "00250084" "1" "02977" "02977" 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"2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251215" "00250108" "1" "02984" "02984" "2013-03-06 11:53:57" "02977" "2013-03-13 19:09:19" "PCR" "DNA" "" "" "0000251216" "00250109" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251217" "00250110" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251218" "00250111" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251219" "00250112" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251220" "00250113" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251221" "00250114" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251222" "00250115" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251223" "00250116" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251225" "00250118" "1" "02977" "02977" "2012-01-23 23:31:11" "" "" "SEQ" "DNA" "" "" "0000251226" "00250119" "1" 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"02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251239" "00250132" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251240" "00250133" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251241" "00250134" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251242" "00250135" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251243" "00250136" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251244" "00250137" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251245" "00250138" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251246" "00250139" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251247" "00250140" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251248" "00250141" "1" "02977" "02977" "2012-01-23 23:31:10" "" "" "SEQ" "DNA" "" "" "0000251249" "00250142" "1" "02977" "02977" 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"0000251091" "AIRE" "0000251092" "AIRE" "0000251093" "AIRE" "0000251094" "AIRE" "0000251095" "AIRE" "0000251096" "AIRE" "0000251097" "AIRE" "0000251098" "AIRE" "0000251099" "AIRE" "0000251100" "AIRE" "0000251101" "AIRE" "0000251102" "AIRE" "0000251103" "AIRE" "0000251104" "AIRE" "0000251105" "AIRE" "0000251106" "AIRE" "0000251107" "AIRE" "0000251108" "AIRE" "0000251109" "AIRE" "0000251110" "AIRE" "0000251111" "AIRE" "0000251112" "AIRE" "0000251113" "AIRE" "0000251114" "AIRE" "0000251115" "AIRE" "0000251116" "AIRE" "0000251117" "AIRE" "0000251118" "AIRE" "0000251119" "AIRE" "0000251120" "AIRE" "0000251121" "AIRE" "0000251122" "AIRE" "0000251123" "AIRE" "0000251124" "AIRE" "0000251125" "AIRE" "0000251126" "AIRE" "0000251127" "AIRE" "0000251128" "AIRE" "0000251129" "AIRE" "0000251130" "AIRE" "0000251131" "AIRE" "0000251132" "AIRE" "0000251133" "AIRE" "0000251134" "AIRE" "0000251135" "AIRE" "0000251136" "AIRE" "0000251137" "AIRE" "0000251138" "AIRE" "0000251139" "AIRE" "0000251140" "AIRE" "0000251141" "AIRE" "0000251142" "AIRE" "0000251143" "AIRE" "0000251144" "AIRE" "0000251145" "AIRE" "0000251146" "AIRE" "0000251147" "AIRE" "0000251148" "AIRE" "0000251149" "AIRE" "0000251150" "AIRE" "0000251151" "AIRE" "0000251152" "AIRE" "0000251153" "AIRE" "0000251154" "AIRE" "0000251155" "AIRE" "0000251156" "AIRE" "0000251157" "AIRE" "0000251158" "AIRE" "0000251159" "AIRE" "0000251160" "AIRE" "0000251161" "AIRE" "0000251162" "AIRE" "0000251163" "AIRE" "0000251164" "AIRE" "0000251165" "AIRE" "0000251166" "AIRE" "0000251167" "AIRE" "0000251168" "AIRE" "0000251169" "AIRE" "0000251170" "AIRE" "0000251171" "AIRE" "0000251172" "AIRE" "0000251173" "AIRE" "0000251174" "AIRE" "0000251175" "AIRE" "0000251176" "AIRE" "0000251177" "AIRE" "0000251178" "AIRE" "0000251179" "AIRE" "0000251180" "AIRE" "0000251181" "AIRE" "0000251182" "AIRE" "0000251183" "AIRE" "0000251184" "AIRE" "0000251185" "AIRE" "0000251186" "AIRE" "0000251187" "AIRE" "0000251188" "AIRE" "0000251189" "AIRE" "0000251190" "AIRE" "0000251191" "AIRE" "0000251192" "AIRE" "0000251193" "AIRE" "0000251194" "AIRE" "0000251195" "AIRE" "0000251196" "AIRE" "0000251197" "AIRE" "0000251198" "AIRE" "0000251199" "AIRE" "0000251200" "AIRE" "0000251201" "AIRE" "0000251202" "AIRE" "0000251203" "AIRE" "0000251204" "AIRE" "0000251205" "AIRE" "0000251206" "AIRE" "0000251207" "AIRE" "0000251208" "AIRE" "0000251209" "AIRE" "0000251210" "AIRE" "0000251211" "AIRE" "0000251213" "AIRE" "0000251214" "AIRE" "0000251215" "AIRE" "0000251216" "AIRE" "0000251217" "AIRE" "0000251218" "AIRE" "0000251219" "AIRE" "0000251220" "AIRE" "0000251221" "AIRE" "0000251222" "AIRE" "0000251223" "AIRE" "0000251225" "AIRE" "0000251226" "AIRE" "0000251228" "AIRE" "0000251229" "AIRE" "0000251230" "AIRE" "0000251231" "AIRE" "0000251232" "AIRE" "0000251233" "AIRE" "0000251234" "AIRE" "0000251235" "AIRE" "0000251236" "AIRE" "0000251237" "AIRE" "0000251238" "AIRE" "0000251239" "AIRE" "0000251240" "AIRE" "0000251241" "AIRE" "0000251242" "AIRE" "0000251243" "AIRE" "0000251244" "AIRE" "0000251245" "AIRE" "0000251246" "AIRE" "0000251247" "AIRE" "0000251248" "AIRE" "0000251249" "AIRE" "0000251250" "AIRE" "0000251251" "AIRE" "0000251252" "AIRE" "0000251253" "AIRE" "0000251254" "AIRE" "0000251255" "AIRE" "0000251256" "AIRE" "0000251257" "AIRE" "0000251258" "AIRE" "0000251259" "AIRE" "0000251261" "AIRE" "0000251262" "AIRE" "0000251263" "AIRE" "0000251264" "AIRE" "0000251265" "AIRE" "0000251266" "AIRE" "0000251267" "AIRE" "0000251268" "AIRE" "0000251269" "AIRE" "0000251270" "AIRE" "0000251271" "AIRE" "0000251272" "AIRE" "0000251273" "AIRE" "0000251275" "AIRE" "0000251276" "AIRE" "0000251277" "AIRE" "0000251278" "AIRE" "0000251279" "AIRE" "0000251280" "AIRE" "0000251281" "AIRE" "0000251282" "AIRE" "0000251283" "AIRE" "0000251284" "AIRE" "0000251285" "AIRE" "0000251286" "AIRE" "0000251287" "AIRE" "0000251288" "AIRE" "0000251289" "AIRE" "0000251290" "AIRE" "0000251291" "AIRE" "0000251292" "AIRE" "0000386069" "AIRE" "0000386070" "AIRE" ## 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 = 464 "{{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}}" "0000259007" "0" "10" "21" "45712977" "45712977" "subst" "0.349385" "02325" "AIRE_000514" "g.45712977T>C" "" "" "" "AIRE(NM_000383.2):c.1197T>C (p.A399=), AIRE(NM_000383.4):c.1197T>C (p.A399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44293094T>C" "" "benign" "" "0000259008" "0" "10" "21" "45717550" "45717550" "subst" "0.457228" "02325" "AIRE_000521" "g.45717550T>C" "" "" "" "AIRE(NM_000383.2):c.1578T>C (p.D526=), AIRE(NM_000383.4):c.1578T>C (p.D526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44297667T>C" "" "benign" "" "0000259009" "0" "10" "21" "45708277" "45708277" "subst" "0.212925" "02325" "AIRE_000505" "g.45708277C>T" "" "" "" "AIRE(NM_000383.2):c.588C>T (p.S196=), AIRE(NM_000383.4):c.588C>T (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44288394C>T" "" "benign" "" "0000259010" "0" "10" "21" "45709568" "45709568" "subst" "0.227045" "02325" "AIRE_000508" "g.45709568C>T" "" "" "" "AIRE(NM_000383.2):c.681C>T (p.G227=), AIRE(NM_000383.4):c.681C>T (p.G227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44289685C>T" "" "benign" "" "0000260700" "0" "10" "21" "45712290" "45712290" "subst" "0.114573" "02326" "AIRE_000512" "g.45712290G>A" "" "" "" "AIRE(NM_000383.2):c.1095+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44292407G>A" "" "benign" "" "0000260701" "0" "30" "21" "45712895" "45712895" "subst" "0.000114329" "02326" "AIRE_000513" "g.45712895C>T" "" "" "" "AIRE(NM_000383.2):c.1115C>T (p.S372L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44293012C>T" "" "likely benign" "" "0000260702" "0" "10" "21" "45712977" "45712977" "subst" "0.349385" "02326" "AIRE_000514" "g.45712977T>C" "" "" "" "AIRE(NM_000383.2):c.1197T>C (p.A399=), AIRE(NM_000383.4):c.1197T>C (p.A399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44293094T>C" "" "benign" "" "0000260703" "0" "10" "21" "45713654" "45713654" "subst" "0.00756213" "02326" "AIRE_000515" "g.45713654C>T" "" "" "" "AIRE(NM_000383.2):c.1279-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44293771C>T" "" "benign" "" "0000260704" "0" "10" "21" "45714294" "45714294" "subst" "0.00931112" "02326" "AIRE_000116" "g.45714294C>T" "" "" "" "AIRE(NM_000383.2):c.1411C>T (p.R471C), AIRE(NM_000383.3):c.1411C>T (p.(Arg471Cys)), AIRE(NM_000383.4):c.1411C>T (p.R471C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44294411C>T" "" "benign" "" "0000260705" "0" "30" "21" "45716336" "45716336" "subst" "0.0022243" "02326" "AIRE_000519" "g.45716336C>T" "" "" "" "AIRE(NM_000383.2):c.1566+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44296453C>T" "" "likely benign" "" "0000260706" "0" "10" "21" "45717550" "45717550" "subst" "0.457228" "02326" "AIRE_000521" "g.45717550T>C" "" "" "" "AIRE(NM_000383.2):c.1578T>C (p.D526=), AIRE(NM_000383.4):c.1578T>C (p.D526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44297667T>C" "" "benign" "" "0000260707" "0" "30" "21" "45707467" "45707467" "subst" "0.000137242" "02326" "AIRE_000503" "g.45707467C>T" "" "" "" "AIRE(NM_000383.2):c.531C>T (p.L177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44287584C>T" "" "likely benign" "" "0000260708" "0" "10" "21" "45708237" "45708237" "subst" "0.000915699" "02326" "AIRE_000047" "g.45708237C>A" "" "" "" "AIRE(NM_000383.2):c.548C>A (p.T183N), AIRE(NM_000383.3):c.548C>A (p.(Thr183Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44288354C>A" "" "benign" "" "0000260709" "0" "10" "21" "45708277" "45708277" "subst" "0.212925" "02326" "AIRE_000505" "g.45708277C>T" "" "" "" "AIRE(NM_000383.2):c.588C>T (p.S196=), AIRE(NM_000383.4):c.588C>T (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44288394C>T" "" "benign" "" "0000260710" "0" "30" "21" "45708355" "45708355" "subst" "0.012932" "02326" "AIRE_000506" "g.45708355C>T" "" "" "" "AIRE(NM_000383.2):c.652+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44288472C>T" "" "likely benign" "" "0000260711" "0" "10" "21" "45709568" "45709568" "subst" "0.227045" "02326" "AIRE_000508" "g.45709568C>T" "" "" "" "AIRE(NM_000383.2):c.681C>T (p.G227=), AIRE(NM_000383.4):c.681C>T (p.G227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44289685C>T" "" "benign" "" "0000260712" "0" "30" "21" "45709642" "45709642" "subst" "0.00248942" "02326" "AIRE_000058" "g.45709642C>T" "" "" "" "AIRE(NM_000383.2):c.755C>T (p.P252L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44289759C>T" "" "likely benign" "" "0000260713" "0" "30" "21" "45709906" "45709906" "subst" "0.140866" "02326" "AIRE_000063" "g.45709906C>G" "" "" "" "AIRE(NM_000383.2):c.834C>G (p.S278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44290023C>G" "" "likely benign" "" "0000260714" "0" "10" "21" "45705988" "45705988" "subst" "0.0898712" "02326" "AIRE_000501" "g.45705988T>C" "" "" "" "AIRE(NM_000383.2):c.99T>C (p.A33=), AIRE(NM_000383.4):c.99T>C (p.A33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44286105T>C" "" "benign" "" "0000262154" "0" "30" "21" "45713737" "45713737" "subst" "0.000176186" "01943" "AIRE_000516" "g.45713737C>T" "" "" "" "AIRE(NM_000383.2):c.1344C>T (p.H448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44293854C>T" "" "likely benign" "" "0000262155" "0" "10" "21" "45714287" "45714287" "subst" "0.0020713" "01943" "AIRE_000517" "g.45714287G>A" "" "" "" "AIRE(NM_000383.2):c.1404G>A (p.T468=), AIRE(NM_000383.4):c.1404G>A (p.(Thr468=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44294404G>A" "" "benign" "" "0000262156" "0" "30" "21" "45716336" "45716336" "subst" "0.0022243" "01943" "AIRE_000519" "g.45716336C>T" "" "" "" "AIRE(NM_000383.2):c.1566+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44296453C>T" "" "likely benign" "" "0000262157" "0" "30" "21" "45717534" "45717534" "subst" "0.00289003" "01943" "AIRE_000520" "g.45717534C>T" "" "" "" "AIRE(NM_000383.2):c.1567-5C>T, AIRE(NM_000383.4):c.1567-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44297651C>T" "" "likely benign" "" "0000262158" "0" "30" "21" "45706533" "45706533" "subst" "5.28447E-5" "01943" "AIRE_000018" "g.45706533G>A" "" "" "" "AIRE(NM_000383.2):c.226G>A (p.D76N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44286650G>A" "" "likely benign" "" "0000262159" "0" "30" "21" "45709541" "45709541" "subst" "5.70683E-5" "01943" "AIRE_000507" "g.45709541C>T" "" "" "" "AIRE(NM_000383.2):c.654C>T (p.G218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44289658C>T" "" "likely benign" "" "0000262160" "0" "30" "21" "45709592" "45709592" "subst" "0.000109954" "01943" "AIRE_000509" "g.45709592G>A" "" "" "" "AIRE(NM_000383.2):c.705G>A (p.K235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44289709G>A" "" "likely benign" "" "0000338127" "0" "10" "21" "45712290" "45712290" "subst" "0.114573" "02327" "AIRE_000512" "g.45712290G>A" "" "" "" "AIRE(NM_000383.2):c.1095+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44292407G>A" "" "benign" "" "0000340109" "0" "10" "21" "45708277" "45708277" "subst" "0.212925" "02327" "AIRE_000505" "g.45708277C>T" "" "" "" "AIRE(NM_000383.2):c.588C>T (p.S196=), AIRE(NM_000383.4):c.588C>T (p.S196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44288394C>T" "" "benign" "" "0000340110" "0" "10" "21" "45709568" "45709568" "subst" "0.227045" "02327" "AIRE_000508" "g.45709568C>T" "" "" "" "AIRE(NM_000383.2):c.681C>T (p.G227=), AIRE(NM_000383.4):c.681C>T (p.G227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44289685C>T" "" "benign" "" "0000340111" "0" "30" "21" "45712254" "45712254" "subst" "0.00126343" "02327" "AIRE_000158" "g.45712254C>T" "" "" "" "AIRE(NM_000383.2):c.1065C>T (p.P355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44292371C>T" "" "likely benign" "" "0000340112" "0" "10" "21" "45712977" "45712977" "subst" "0.349385" "02327" "AIRE_000514" "g.45712977T>C" "" "" "" "AIRE(NM_000383.2):c.1197T>C (p.A399=), AIRE(NM_000383.4):c.1197T>C (p.A399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44293094T>C" "" "benign" "" "0000340113" "0" "10" "21" "45717550" "45717550" "subst" "0.457228" "02327" "AIRE_000521" "g.45717550T>C" "" "" "" "AIRE(NM_000383.2):c.1578T>C (p.D526=), AIRE(NM_000383.4):c.1578T>C (p.D526=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44297667T>C" "" "benign" "" "0000340922" "0" "30" "21" "45714359" "45714359" "subst" "0.000959184" "02327" "AIRE_000527" "g.45714359C>T" "" "" "" "AIRE(NM_000383.2):c.1476C>T (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44294476C>T" "" "likely benign" "" "0000342441" "0" "90" "21" "45709656" "45709656" "subst" "0.000769489" "02327" "AIRE_000059" "g.45709656C>T" "" "" "" "AIRE(NM_000383.2):c.769C>T (p.R257*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000345974" "0" "90" "21" "45711011" "45711011" "subst" "0" "02327" "AIRE_000072" "g.45711011G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44291128G>A" "" "pathogenic" "" "0000348900" "0" "10" "21" "45709906" "45709906" "subst" "0.140866" "02327" "AIRE_000063" "g.45709906C>G" "" "" "" "AIRE(NM_000383.2):c.834C>G (p.S278R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000349314" "0" "70" "21" "45705936" "45705936" "subst" "0" "02327" "AIRE_000522" "g.45705936C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44286053C>G" "" "likely pathogenic" "" "0000570761" "0" "30" "21" "45705952" "45705952" "subst" "0.00197819" "02326" "AIRE_000135" "g.45705952C>T" "" "" "" "AIRE(NM_000383.2):c.63C>T (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44286069C>T" "" "likely benign" "" "0000570762" "0" "10" "21" "45705988" "45705988" "subst" "0.0898712" "02325" "AIRE_000501" "g.45705988T>C" "" "" "" "AIRE(NM_000383.2):c.99T>C (p.A33=), AIRE(NM_000383.4):c.99T>C (p.A33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44286105T>C" "" "benign" "" "0000570763" "0" "30" "21" "45706901" "45706901" "subst" "0.000812948" "01943" "AIRE_000529" "g.45706901G>A" "" "" "" "AIRE(NM_000383.2):c.348G>A (p.P116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44287018G>A" "" "likely benign" "" "0000570764" "0" "30" "21" "45706907" "45706907" "subst" "0.000148293" "01943" "AIRE_000530" "g.45706907C>G" "" "" "" "AIRE(NM_000383.2):c.354C>G (p.V118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44287024C>G" "" "likely benign" "" "0000570765" "0" "30" "21" "45707457" "45707457" "subst" "0.000779288" "02326" "AIRE_000045" "g.45707457G>A" "" "" "" "AIRE(NM_000383.2):c.521G>A (p.R174H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44287574G>A" "" "likely benign" "" "0000570766" "0" "10" "21" "45708237" "45708237" "subst" "0.000915699" "01943" "AIRE_000047" "g.45708237C>A" "" "" "" "AIRE(NM_000383.2):c.548C>A (p.T183N), AIRE(NM_000383.3):c.548C>A (p.(Thr183Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44288354C>A" "" "benign" "" "0000570767" "0" "30" "21" "45708237" "45708237" "subst" "0.000915699" "01804" "AIRE_000047" "g.45708237C>A" "" "" "" "AIRE(NM_000383.2):c.548C>A (p.T183N), AIRE(NM_000383.3):c.548C>A (p.(Thr183Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44288354C>A" "" "likely benign" "" "0000570768" "0" "30" "21" "45708278" "45708278" "subst" "0.000105827" "01804" "AIRE_000049" "g.45708278G>A" "" "" "" "AIRE(NM_000383.3):c.589G>A (p.(Gly197Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44288395G>A" "" "likely benign" "" "0000570769" "0" "30" "21" "45708289" "45708289" "subst" "6.51583E-5" "02326" "AIRE_000533" "g.45708289G>A" "" "" "" "AIRE(NM_000383.2):c.600G>A (p.P200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44288406G>A" "" "likely benign" "" "0000570770" "0" "30" "21" "45709643" "45709643" "subst" "6.15269E-5" "01943" "AIRE_000534" "g.45709643G>A" "" "" "" "AIRE(NM_000383.2):c.756G>A (p.P252=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44289760G>A" "" "likely benign" "" "0000570771" "0" "10" "21" "45709767" "45709767" "subst" "0" "02327" "AIRE_000535" "g.45709767C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44289884C>G" "" "benign" "" "0000570772" "0" "30" "21" "45709914" "45709914" "subst" "0" "01804" "AIRE_000536" "g.45709914C>T" "" "" "" "AIRE(NM_000383.3):c.842C>T (p.(Ala281Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44290031C>T" "" "likely benign" "" "0000570773" "0" "50" "21" "45711025" "45711025" "subst" "0.00011062" "01943" "AIRE_000073" "g.45711025C>G" "" "" "" "AIRE(NM_000383.2):c.927C>G (p.I309M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44291142C>G" "" "VUS" "" "0000570775" "0" "30" "21" "45712244" "45712244" "subst" "0" "01943" "AIRE_000538" "g.45712244C>A" "" "" "" "AIRE(NM_000383.2):c.1055C>A (p.A352E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44292361C>A" "" "likely benign" "" "0000570777" "0" "30" "21" "45712873" "45712873" "subst" "4.08911E-6" "01804" "AIRE_000539" "g.45712873C>T" "" "" "" "AIRE(NM_000383.3):c.1096-3C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44292990C>T" "" "likely benign" "" "0000570778" "0" "30" "21" "45712895" "45712895" "subst" "0.000114329" "01943" "AIRE_000513" "g.45712895C>T" "" "" "" "AIRE(NM_000383.2):c.1115C>T (p.S372L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44293012C>T" "" "likely benign" "" "0000570779" "0" "30" "21" "45712915" "45712915" "subst" "0" "01943" "AIRE_000540" "g.45712915G>A" "" "" "" "AIRE(NM_000383.2):c.1135G>A (p.G379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44293032G>A" "" "likely benign" "" "0000570780" "0" "30" "21" "45712995" "45712995" "subst" "0.000467806" "01943" "AIRE_000541" "g.45712995G>A" "" "" "" "AIRE(NM_000383.2):c.1215G>A (p.P405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44293112G>A" "" "likely benign" "" "0000570781" "0" "30" "21" "45713715" "45713715" "subst" "0.00140148" "01943" "AIRE_000107" "g.45713715C>T" "" "" "" "AIRE(NM_000383.2):c.1322C>T (p.T441M), AIRE(NM_000383.3):c.1322C>T (p.(Thr441Met)), AIRE(NM_000383.4):c.1322C>T (p.T441M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44293832C>T" "" "likely benign" "" "0000570782" "0" "50" "21" "45713715" "45713715" "subst" "0.00140148" "02325" "AIRE_000107" "g.45713715C>T" "" "" "" "AIRE(NM_000383.2):c.1322C>T (p.T441M), AIRE(NM_000383.3):c.1322C>T (p.(Thr441Met)), AIRE(NM_000383.4):c.1322C>T (p.T441M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44293832C>T" "" "VUS" "" "0000570783" "0" "30" "21" "45714294" "45714294" "subst" "0.00931112" "01804" "AIRE_000116" "g.45714294C>T" "" "" "" "AIRE(NM_000383.2):c.1411C>T (p.R471C), AIRE(NM_000383.3):c.1411C>T (p.(Arg471Cys)), AIRE(NM_000383.4):c.1411C>T (p.R471C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44294411C>T" "" "likely benign" "" "0000570784" "0" "30" "21" "45714359" "45714359" "subst" "0.000959184" "01943" "AIRE_000527" "g.45714359C>T" "" "" "" "AIRE(NM_000383.2):c.1476C>T (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44294476C>T" "" "likely benign" "" "0000570785" "0" "30" "21" "45714395" "45714395" "subst" "0.000160605" "01943" "AIRE_000543" "g.45714395C>T" "" "" "" "AIRE(NM_000383.2):c.1503+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44294512C>T" "" "likely benign" "" "0000570786" "0" "30" "21" "45716269" "45716269" "subst" "0.00326092" "02326" "AIRE_000119" "g.45716269G>A" "" "" "" "AIRE(NM_000383.2):c.1507G>A (p.D503N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44296386G>A" "" "likely benign" "" "0000570788" "0" "10" "21" "45717534" "45717534" "subst" "0.00289003" "01804" "AIRE_000520" "g.45717534C>T" "" "" "" "AIRE(NM_000383.2):c.1567-5C>T, AIRE(NM_000383.4):c.1567-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44297651C>T" "" "benign" "" "0000570789" "0" "30" "21" "45717534" "45717534" "subst" "0.00289003" "02326" "AIRE_000520" "g.45717534C>T" "" "" "" "AIRE(NM_000383.2):c.1567-5C>T, AIRE(NM_000383.4):c.1567-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44297651C>T" "" "likely benign" "" "0000580419" "0" "95" "21" "45705890" "45705890" "subst" "0" "02977" "AIRE_000001" "g.45705890A>T" "" "{PMID:Stolarski 2006:16965330}" "" "-" "ATG>TTG" "Unknown" "" "" "0" "" "" "g.44286007A>T" "" "pathogenic" "" "0000580420" "0" "95" "21" "45705890" "45705890" "subst" "8.06985E-6" "02977" "AIRE_000002" "g.45705890A>G" "" "{PMID:Faiyaz-Ul-Haque 2009:19758376}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44286007A>G" "" "pathogenic" "" "0000580421" "0" "95" "21" "45705891" "45705891" "subst" "0" "02977" "AIRE_000003" "g.45705891T>C" "" "{PMID:Orlova 2010:20407228}" "" "-" "ATG>ACG" "Unknown" "" "" "0" "" "" "g.44286008T>C" "" "pathogenic" "" "0000580422" "3" "95" "21" "45705910" "45705932" "dup" "0" "02977" "AIRE_000004" "g.45705910_45705932dup" "" "{PMID:Podkrajsek 2008:18682433}" "" "21_43dup23" "CGC>CAC" "Germline" "" "" "0" "" "" "g.44286027_44286049dup" "" "pathogenic (recessive)" "" "0000580423" "0" "95" "21" "45705911" "45705911" "subst" "0" "02977" "AIRE_000005" "g.45705911C>T" "" "{PMID:Wolff 2007:17118990}" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44286028C>T" "" "pathogenic" "" "0000580424" "0" "95" "21" "45705932" "45705932" "subst" "0" "02977" "AIRE_000006" "g.45705932C>T" "" "{PMID:Sato 2002:12625412}" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44286049C>T" "" "pathogenic" "" "0000580425" "0" "95" "21" "45705933" "45705933" "subst" "0" "02977" "AIRE_000007" "g.45705933G>T" "" "{PMID:Pearce 1998:09837820}" "" "-" "CGC>CTC" "Unknown" "" "" "0" "" "" "g.44286050G>T" "" "pathogenic" "" "0000580426" "0" "95" "21" "45705936" "45705936" "subst" "0" "02977" "AIRE_000008" "g.45705936C>T" "" "{PMID:Cihakova 2001:11524733}" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44286053C>T" "" "pathogenic" "" "0000580427" "0" "95" "21" "45705944" "45705944" "subst" "0" "02977" "AIRE_000009" "g.45705944G>A" "" "{PMID:Liu 2010:20140861}" "" "-" "GCG>ACG" "Unknown" "" "" "0" "" "" "g.44286061G>A" "" "pathogenic" "" "0000580428" "3" "90" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "GCC>GTC" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000580429" "0" "95" "21" "45705953" "45705958" "del" "0" "02977" "AIRE_000011" "g.45705953_45705958del" "" "{PMID:Meloni 2005:15712268}" "" "-" "GCC GTG GAC AGC > GCC AGC" "Unknown" "" "" "0" "" "" "g.44286070_44286075del" "" "pathogenic" "" "0000580430" "11" "90" "21" "45705964" "45717472" "del" "0" "02977" "AIRE_000170" "g.(45578081_45705964)_(45717472_?)del" "" "{PMID:Podkrajsek 2008:18682433}" "" "c.(?_68)_(1567-14_?)del" "deletion does not include D21S1912" "Germline" "" "" "0" "" "" "g.(?_44286081)_(44297589_5103720)del" "" "pathogenic (recessive)" "" "0000580431" "0" "95" "21" "45705972" "45705972" "subst" "2.96582E-5" "02977" "AIRE_000013" "g.45705972T>C" "" "{PMID:Pearce 1998:09837820}" "" "-" "CTG>CCG" "Unknown" "" "" "0" "" "" "g.44286089T>C" "" "pathogenic" "" "0000580432" "0" "95" "21" "45705975" "45705975" "subst" "0" "02977" "AIRE_000014" "g.45705975T>C" "" "Kogawa 2002 Clin Immunol" "" "-" "CTG>CCG" "Unknown" "" "" "0" "" "" "g.44286092T>C" "" "pathogenic" "" "0000580433" "0" "95" "21" "45705982" "45705983" "ins" "0" "02977" "AIRE_000015" "g.45705982_45705983insT" "" "{PMID:Faiyaz-Ul-Haque 2009:19758376}" "" "-" "CTG>TCT" "Unknown" "" "" "0" "" "" "g.44286099_44286100insT" "" "pathogenic" "" "0000580434" "0" "95" "21" "45706022" "45706022" "subst" "7.4129E-6" "02977" "AIRE_000123" "g.45706022G>C" "" "Freisinger 2005 Horm Res" "" "-" "" "Unknown" "" "" "0" "" "" "g.44286139G>C" "" "pathogenic" "" "0000580435" "0" "95" "21" "45706022" "45706022" ";" "0" "02977" "AIRE_000124" "g.[45706022G>C;45706026del]" "" "{PMID:Stolarski 2006:16965330}" "" "-" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000580436" "0" "95" "21" "45706021" "45707474" "del" "0" "02977" "AIRE_000171" "g.(?_45706021)_(45707474_?)del" "" "{PMID:Cihakova 2001:11524733}" "" "-" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000580437" "0" "35" "21" "45705952" "45705952" "subst" "0.00197819" "02977" "AIRE_000135" "g.45705952C>T" "" "Scott et al. [1998]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44286069C>T" "" "likely benign" "" "0000580438" "0" "95" "21" "45705936" "45705936" "subst" "0" "02977" "AIRE_000008" "g.45705936C>T" "" "{PMID:Podkrajsek 2005:15886230}" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44286053C>T" "" "pathogenic" "" "0000580440" "0" "95" "21" "45705972" "45705972" "subst" "2.96582E-5" "02977" "AIRE_000013" "g.45705972T>C" "" "{PMID:Heino 1999:09888391}" "" "-" "CTG>CCG" "Unknown" "" "" "0" "" "" "g.44286089T>C" "" "pathogenic" "" "0000580441" "0" "35" "21" "45705362" "45705362" "subst" "0" "02977" "AIRE_000199" "g.45705362G>A" "" "Lovewell et al. [2006]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44285479G>A" "" "likely benign" "" "0000580442" "0" "95" "21" "45705910" "45705932" "dup" "0" "02977" "AIRE_000004" "g.45705910_45705932dup" "" "{PMID:Toth 2010:19863576}" "" "-" "CGC>CAC" "Unknown" "" "" "0" "" "" "g.44286027_44286049dup" "" "pathogenic" "" "0000580443" "0" "35" "21" "45705787" "45705787" "subst" "0" "02977" "AIRE_000211" "g.45705787C>T" "" "Lovewell et al. [2006]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44285904C>T" "" "likely benign" "" "0000580444" "0" "95" "21" "45705951" "45705951" "subst" "0" "02977" "AIRE_000010" "g.45705951C>T" "" "{PMID:Halonen 2002:12050215}" "" "-" "GCC>GTC" "Unknown" "" "" "0" "" "" "g.44286068C>T" "" "pathogenic" "" "0000580445" "0" "95" "21" "45705936" "45705936" "subst" "0" "02977" "AIRE_000008" "g.45705936C>T" "" "{PMID:Orlova 2010:20407228}" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44286053C>T" "" "pathogenic" "" "0000580446" "0" "95" "21" "45706022" "45706022" ";" "0" "02977" "AIRE_000124" "g.[45706022G>C;45706026del]" "" "Capalbo 2009 Horm Res" "" "-" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000580447" "0" "95" "21" "45705936" "45705936" "subst" "0" "02977" "AIRE_000008" "g.45705936C>T" "" "{PMID:Mazza 2011:21295522}" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44286053C>T" "" "pathogenic" "" "0000580448" "0" "95" "21" "45705936" "45705936" "subst" "0" "02977" "AIRE_000008" "g.45705936C>T" "" "Capalbo 2009 Horm Res" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44286053C>T" "" "pathogenic" "" "0000580450" "0" "95" "21" "45705936" "45705936" "subst" "0" "02977" "AIRE_000008" "g.45705936C>T" "" "Valenzise 2010 Horm Res Paediatr" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44286053C>T" "" "pathogenic" "" "0000580451" "0" "95" "21" "45706022" "45706022" ";" "0" "02977" "AIRE_000124" "g.[45706022G>C;45706026del]" "" "{PMID:Mazza 2011:21295522}" "" "-" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000580452" "0" "95" "21" "45705951" "45705951" "subst" "0" "02977" "AIRE_000010" "g.45705951C>T" "" "{PMID:Mazza 2011:21295522}" "" "-" "GCC>GTC" "Unknown" "" "" "0" "" "" "g.44286068C>T" "" "pathogenic" "" "0000580453" "0" "95" "21" "45705910" "45705932" "dup" "0" "02977" "AIRE_000004" "g.45705910_45705932dup" "" "{PMID:Podkrajsek 2005:15886230}" "" "-" "CGC>CAC" "Unknown" "" "" "0" "" "" "g.44286027_44286049dup" "" "pathogenic" "" "0000580454" "0" "95" "21" "45705951" "45705951" "subst" "0" "02977" "AIRE_000010" "g.45705951C>T" "" "Capalbo 2009 Horm Res" "" "-" "GCC>GTC" "Unknown" "" "" "0" "" "" "g.44286068C>T" "" "pathogenic" "" "0000580455" "0" "95" "21" "45705910" "45705932" "dup" "0" "02977" "AIRE_000004" "g.45705910_45705932dup" "" "{PMID:Cihakova 2001:11524733}" "" "-" "CGC>CAC" "Unknown" "" "" "0" "" "" "g.44286027_44286049dup" "" "pathogenic" "" "0000580456" "0" "95" "21" "45706498" "45706533" "del" "0" "02977" "AIRE_000016" "g.45706498_45706533del" "" "{PMID:Heino 1999:09888391}" "" "-" "TCC … GAC > TAC" "Unknown" "" "" "0" "" "" "g.44286615_44286650del" "" "pathogenic" "" "0000580457" "0" "95" "21" "45706512" "45706515" "dup" "0" "02977" "AIRE_000017" "g.45706512_45706515dup" "" "{PMID:Heino 1999:09888391}" "" "-" "GAC>GCA" "Unknown" "" "" "0" "" "" "g.44286629_44286632dup" "" "pathogenic" "" "0000580458" "0" "55" "21" "45706533" "45706533" "subst" "5.28447E-5" "02977" "AIRE_000018" "g.45706533G>A" "" "" "" "-" "GAC>AAC" "Unknown" "" "" "0" "" "" "g.44286650G>A" "" "VUS" "" "0000580459" "0" "95" "21" "45706537" "45706537" "subst" "0" "02977" "AIRE_000019" "g.45706537T>C" "" "{PMID:Meloni 2005:15712268}" "" "-" "TTC>TCC" "Unknown" "" "" "0" "" "" "g.44286654T>C" "" "pathogenic" "" "0000580460" "0" "95" "21" "45706539" "45706539" "subst" "8.12949E-6" "02977" "AIRE_000020" "g.45706539T>C" "" "{PMID:Meloni 2002:11836330}" "" "-" "TGG>CGG" "Unknown" "" "" "0" "" "" "g.44286656T>C" "" "pathogenic" "" "0000580461" "0" "95" "21" "45706539" "45706539" "subst" "0" "02977" "AIRE_000021" "g.45706539T>A" "" "" "" "-" "" "Unknown" "" "" "0" "" "" "g.44286656T>A" "" "pathogenic" "" "0000580462" "0" "95" "21" "45706545" "45706545" "subst" "0" "02977" "AIRE_000022" "g.45706545G>T" "" "{PMID:Bjorses 2000:10677297}" "" "-" "GTG>TTG" "Unknown" "" "" "0" "" "" "g.44286662G>T" "" "pathogenic" "" "0000580463" "0" "95" "21" "45706546" "45706546" "subst" "0" "02977" "AIRE_000023" "g.45706546T>G" "" "{PMID:Zaidi 2009:19807739}" "" "-" "GTG>GGG" "Unknown" "" "" "0" "" "" "g.44286663T>G" "" "pathogenic" "" "0000580464" "1" "95" "21" "45706554" "45706554" "subst" "0" "02977" "AIRE_000024" "g.45706554A>G" "" "{PMID:Nagamine 1997:09398839}, {OMIM607358:0002}" "" "-" "AAG>GAG" "Unknown" "" "" "0" "" "" "g.44286671A>G" "" "pathogenic" "" "0000580465" "0" "95" "21" "45706561" "45706561" "subst" "4.06497E-6" "02977" "AIRE_000025" "g.45706561A>G" "" "{PMID:Bjorses 2000:10677297}" "" "-" "TAC>TGC" "Unknown" "" "" "0" "" "" "g.44286678A>G" "" "pathogenic" "" "0000580466" "0" "95" "21" "45706567" "45706567" "subst" "0" "02977" "AIRE_000026" "g.45706567T>C" "" "{PMID:Mazza 2011:21295522}" "" "-" "CTG>CCG" "Unknown" "" "" "0" "" "" "g.44286684T>C" "" "pathogenic" "" "0000580467" "0" "95" "21" "45706569" "45706569" "subst" "0" "02977" "AIRE_000027" "g.45706569G>T" "" "Cepedano Dans 2002 An Esp Pediatr" "" "-" "GAG>TAG" "Unknown" "" "" "0" "" "" "g.44286686G>T" "" "pathogenic" "" "0000580468" "0" "95" "21" "45706576" "45706576" "subst" "8.13246E-6" "02977" "AIRE_000028" "g.45706576A>G" "" "{PMID:Pearce 1998:09837820}" "" "-" "TAT>TGT" "Unknown" "" "" "0" "" "" "g.44286693A>G" "" "pathogenic" "" "0000580469" "0" "95" "21" "45706581" "45706581" "subst" "0" "02977" "AIRE_000029" "g.45706581C>T" "" "{PMID:F Magitta 2008:18426830}" "" "-" "CGG>TGG" "Unknown" "" "" "0" "" "" "g.44286698C>T" "" "pathogenic" "" "0000580470" "0" "95" "21" "45706585" "45706585" "subst" "0" "02977" "AIRE_000030" "g.45706585T>G" "" "Ward 1999 JCEM" "" "-" "CTG>CGG" "Unknown" "" "" "0" "" "" "g.44286702T>G" "" "pathogenic" "" "0000580471" "0" "95" "21" "45706597" "45706597" "subst" "0" "02977" "AIRE_000031" "g.45706597T>C" "" "{PMID:Wolff 2007:17118990}" "" "-" "CTG>CCG" "Unknown" "" "" "0" "" "" "g.44286714T>C" "" "pathogenic" "" "0000580472" "0" "95" "21" "45706613" "45706613" "del" "0" "02977" "AIRE_000032" "g.45706613del" "" "Shin and Lee 2011 Horm Res Paediatr" "" "-" "AAA GAT > AAG ATG" "Unknown" "" "" "0" "" "" "g.44286730del" "" "pathogenic" "" "0000580473" "0" "95" "21" "45706539" "45706539" "subst" "8.12949E-6" "02977" "AIRE_000020" "g.45706539T>C" "" "{PMID:Mazza 2011:21295522}" "" "-" "TGG>CGG" "Unknown" "" "" "0" "" "" "g.44286656T>C" "" "pathogenic" "" "0000580474" "0" "95" "21" "45706539" "45706539" "subst" "8.12949E-6" "02977" "AIRE_000020" "g.45706539T>C" "" "Capalbo 2009 Horm Res" "" "-" "TGG>CGG" "Unknown" "" "" "0" "" "" "g.44286656T>C" "" "pathogenic" "" "0000580475" "0" "95" "21" "45706567" "45706567" "subst" "0" "02977" "AIRE_000026" "g.45706567T>C" "" "Montin 2008 Clin Exp Immunol" "" "-" "CTG>CCG" "Unknown" "" "" "0" "" "" "g.44286684T>C" "" "pathogenic" "" "0000580476" "0" "35" "21" "45706675" "45706675" "subst" "0" "02977" "AIRE_000219" "g.45706675C>T" "" "Scott et al. [1998]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44286792C>T" "" "likely benign" "" "0000580478" "0" "95" "21" "45706539" "45706539" "subst" "8.12949E-6" "02977" "AIRE_000020" "g.45706539T>C" "" "{PMID:Cihakova 2001:11524733}" "" "-" "TGG>CGG" "Unknown" "" "" "0" "" "" "g.44286656T>C" "" "pathogenic" "" "0000580479" "0" "95" "21" "45706539" "45706539" "subst" "8.12949E-6" "02977" "AIRE_000020" "g.45706539T>C" "" "{PMID:Meloni 2005:15712268}" "" "-" "TGG>CGG" "Unknown" "" "" "0" "" "" "g.44286656T>C" "" "pathogenic" "" "0000580480" "0" "95" "21" "45706597" "45706597" "subst" "0" "02977" "AIRE_000031" "g.45706597T>C" "" "{PMID:Dominguez 2006:17220063}" "" "-" "CTG>CCG" "Unknown" "" "" "0" "" "" "g.44286714T>C" "" "pathogenic" "" "0000580481" "0" "95" "21" "45706539" "45706539" "subst" "8.12949E-6" "02977" "AIRE_000020" "g.45706539T>C" "" "{PMID:Cervato 2009:18616706}" "" "-" "TGG>CGG" "Unknown" "" "" "0" "" "" "g.44286656T>C" "" "pathogenic" "" "0000580482" "0" "95" "21" "45706561" "45706561" "subst" "4.06497E-6" "02977" "AIRE_000025" "g.45706561A>G" "" "{PMID:Halonen 2002:12050215}" "" "-" "TAC>TGC" "Unknown" "" "" "0" "" "" "g.44286678A>G" "" "pathogenic" "" "0000580483" "0" "95" "21" "45706512" "45706515" "dup" "0" "02977" "AIRE_000017" "g.45706512_45706515dup" "" "{PMID:Faiyaz-Ul-Haque 2009:19758376}" "" "-" "GAC>GCA" "Unknown" "" "" "0" "" "" "g.44286629_44286632dup" "" "pathogenic" "" "0000580484" "0" "95" "21" "45706539" "45706539" "subst" "8.12949E-6" "02977" "AIRE_000020" "g.45706539T>C" "" "{PMID:Orlova 2010:20407228}" "" "-" "TGG>CGG" "Unknown" "" "" "0" "" "" "g.44286656T>C" "" "pathogenic" "" "0000580485" "0" "55" "21" "45706895" "45706895" "subst" "0.000189976" "02977" "AIRE_000033" "g.45706895G>T" "" "" "" "-" "AAG>AAT" "Unknown" "" "" "0" "" "" "g.44287012G>T" "" "VUS" "" "0000580486" "0" "55" "21" "45706900" "45706900" "subst" "4.54185E-5" "02977" "AIRE_000034" "g.45706900C>T" "" "" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44287017C>T" "" "VUS" "" "0000580487" "0" "95" "21" "45706905" "45706905" "del" "0" "02977" "AIRE_000035" "g.45706905del" "" "Jaimes Parada 2008 An Pediatr Barc" "" "-" "GTC>TCC" "Unknown" "" "" "0" "" "" "g.44287022del" "" "pathogenic" "" "0000580488" "0" "95" "21" "45706955" "45706955" "del" "0" "02977" "AIRE_000036" "g.45706955del" "" "{PMID:Wolff 2007:17118990}" "" "-" "GCC TCA > GCT CAG" "Unknown" "" "" "0" "" "" "g.44287072del" "" "pathogenic" "" "0000580489" "0" "55" "21" "45706968" "45706968" "subst" "4.60282E-5" "02977" "AIRE_000037" "g.45706968C>G" "" "" "" "-" "CGA>GGA" "Unknown" "" "" "0" "" "" "g.44287085C>G" "" "VUS" "" "0000580490" "0" "95" "21" "45706968" "45706968" "subst" "2.09219E-5" "02977" "AIRE_000038" "g.45706968C>T" "" "{PMID:Rosatelli 1998:09856486}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44287085C>T" "" "pathogenic" "" "0000580491" "0" "55" "21" "45706981" "45706981" "subst" "0" "02977" "AIRE_000039" "g.45706981C>T" "" "" "" "-" "CCA>CTA" "Unknown" "" "" "0" "" "" "g.44287098C>T" "" "VUS" "" "0000580492" "0" "95" "21" "45707016" "45707016" "subst" "0" "02977" "AIRE_000040" "g.45707016G>A" "" "{PMID:von Schnurbein 2008:19209622}" "" "-" "GGC>AGC" "Unknown" "" "" "0" "" "" "g.44287133G>A" "" "pathogenic" "" "0000580493" "0" "95" "21" "45707018" "45707018" "subst" "8.34648E-6" "02977" "AIRE_000126" "g.45707018T>C" "" "{PMID:Wang 1998:09921903}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44287135T>C" "" "pathogenic" "" "0000580494" "0" "35" "21" "45706940" "45706940" "subst" "4.1111E-6" "02977" "AIRE_000141" "g.45706940C>T" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44287057C>T" "" "likely benign" "" "0000580495" "0" "75" "21" "45707015" "45707015" "subst" "0" "02977" "AIRE_000142" "g.45707015A>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "" "De novo" "" "" "0" "" "" "g.44287132A>T" "" "likely pathogenic (recessive)" "" "0000580496" "0" "95" "21" "45706968" "45706968" "subst" "2.09219E-5" "02977" "AIRE_000038" "g.45706968C>T" "" "{PMID:Zaidi 2009:19807739}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44287085C>T" "" "pathogenic" "" "0000580497" "0" "95" "21" "45706968" "45706968" "subst" "2.09219E-5" "02977" "AIRE_000038" "g.45706968C>T" "" "{PMID:Cihakova 2001:11524733}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44287085C>T" "" "pathogenic" "" "0000580498" "0" "95" "21" "45706968" "45706968" "subst" "2.09219E-5" "02977" "AIRE_000038" "g.45706968C>T" "" "Valenzise 2010 Horm Res Paediatr" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44287085C>T" "" "pathogenic" "" "0000580499" "0" "95" "21" "45706968" "45706968" "subst" "2.09219E-5" "02977" "AIRE_000038" "g.45706968C>T" "" "{PMID:Orlova 2010:20407228}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44287085C>T" "" "pathogenic" "" "0000580500" "0" "95" "21" "45706968" "45706968" "subst" "2.09219E-5" "02977" "AIRE_000038" "g.45706968C>T" "" "{PMID:Mazza 2011:21295522}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44287085C>T" "" "pathogenic" "" "0000580501" "0" "95" "21" "45707018" "45707018" "subst" "8.34648E-6" "02977" "AIRE_000126" "g.45707018T>C" "" "{PMID:Dominguez 2006:17220063}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44287135T>C" "" "pathogenic" "" "0000580502" "0" "95" "21" "45706968" "45706968" "subst" "2.09219E-5" "02977" "AIRE_000038" "g.45706968C>T" "" "{PMID:Cervato 2009:18616706}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44287085C>T" "" "pathogenic" "" "0000580503" "0" "55" "21" "45707421" "45707421" "subst" "0.000119788" "02977" "AIRE_000041" "g.45707421C>T" "" "" "" "-" "CCC>CTC" "Unknown" "" "" "0" "" "" "g.44287538C>T" "" "VUS" "" "0000580504" "0" "55" "21" "45707433" "45707433" "subst" "0.00107184" "02977" "AIRE_000042" "g.45707433C>T" "" "" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44287550C>T" "" "VUS" "" "0000580505" "0" "95" "21" "45707444" "45707445" "ins" "0" "02977" "AIRE_000043" "g.45707444_45707445ins13" "" "{PMID:Bjorses 2000:10677297}" "" "-" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000580506" "0" "95" "21" "45707453" "45707453" "subst" "0" "02977" "AIRE_000044" "g.45707453C>T" "" "{PMID:Heino 1999:09888391}" "" "-" "CAG>TAG" "Unknown" "" "" "0" "" "" "g.44287570C>T" "" "pathogenic" "" "0000580507" "0" "55" "21" "45707457" "45707457" "subst" "0.000779288" "02977" "AIRE_000045" "g.45707457G>A" "" "" "" "-" "CGC>CAC" "Unknown" "" "" "0" "" "" "g.44287574G>A" "" "VUS" "" "0000580508" "0" "35" "21" "45707516" "45707516" "subst" "0" "02977" "AIRE_000228" "g.45707516A>G" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44287633A>G" "" "likely benign" "" "0000580509" "0" "35" "21" "45707523" "45707523" "subst" "0" "02977" "AIRE_000230" "g.45707523A>G" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44287640A>G" "" "likely benign" "" "0000580510" "0" "35" "21" "45708182" "45708182" "subst" "0" "02977" "AIRE_000248" "g.45708182A>G" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44288299A>G" "" "likely benign" "" "0000580511" "0" "95" "21" "45707453" "45707453" "subst" "0" "02977" "AIRE_000044" "g.45707453C>T" "" "{PMID:Bjorses 2000:10677297}" "" "-" "CAG>TAG" "Unknown" "" "" "0" "" "" "g.44287570C>T" "" "pathogenic" "" "0000580512" "0" "95" "21" "45708229" "45708229" "del" "0" "02977" "AIRE_000046" "g.45708229del" "" "{PMID:Podkrajsek 2005:15886230}" "" "-" "GGG ATT > GGA TTC" "Unknown" "" "" "0" "" "" "g.44288346del" "" "pathogenic" "" "0000580513" "0" "55" "21" "45708237" "45708237" "subst" "0.000915699" "02977" "AIRE_000047" "g.45708237C>A" "" "" "" "-" "ACC>AAC" "Unknown" "" "" "0" "" "" "g.44288354C>A" "" "VUS" "" "0000580514" "0" "55" "21" "45708249" "45708249" "subst" "5.28967E-5" "02977" "AIRE_000048" "g.45708249C>T" "" "" "" "-" "TCA>TTA" "Unknown" "" "" "0" "" "" "g.44288366C>T" "" "VUS" "" "0000580515" "0" "55" "21" "45708278" "45708278" "subst" "0.000105827" "02977" "AIRE_000049" "g.45708278G>A" "" "" "" "-" "GGG>AGG" "Unknown" "" "" "0" "" "" "g.44288395G>A" "" "VUS" "" "0000580516" "0" "55" "21" "45708284" "45708284" "subst" "0.00118054" "02977" "AIRE_000050" "g.45708284G>A" "" "Nejentsev 2009 Science" "" "-" "GTC>ATC" "Unknown" "" "" "0" "" "" "g.44288401G>A" "" "VUS" "" "0000580517" "0" "55" "21" "45708288" "45708288" "subst" "0.00015879" "02977" "AIRE_000051" "g.45708288C>T" "" "" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44288405C>T" "" "VUS" "" "0000580518" "0" "95" "21" "45708296" "45708296" "subst" "4.07266E-6" "02977" "AIRE_000052" "g.45708296C>T" "" "{PMID:Scott 1998:09717837}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44288413C>T" "" "pathogenic" "" "0000580519" "0" "95" "21" "45709534" "45709536" "del" "0" "02977" "AIRE_000127" "g.45709534_45709536del" "" "{PMID:Podkrajsek 2005:15886230}" "" "c.653-7_653-5del" "" "Unknown" "" "" "0" "" "" "g.44289651_44289653del" "" "pathogenic" "" "0000580520" "0" "35" "21" "45708304" "45708304" "subst" "8.96269E-5" "02977" "AIRE_000146" "g.45708304C>T" "" "" "" "-" "" "Unknown" "" "" "0" "" "" "g.44288421C>T" "" "likely benign" "" "0000580521" "0" "95" "21" "45708296" "45708296" "subst" "4.07266E-6" "02977" "AIRE_000052" "g.45708296C>T" "" "Valenzise 2010 Horm Res Paediatr" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44288413C>T" "" "pathogenic" "" "0000580522" "0" "35" "21" "45708385" "45708385" "subst" "0" "02977" "AIRE_000252" "g.45708385G>A" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44288502G>A" "" "likely benign" "" "0000580523" "0" "95" "21" "45708296" "45708296" "subst" "4.07266E-6" "02977" "AIRE_000052" "g.45708296C>T" "" "{PMID:Halonen 2002:12050215}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44288413C>T" "" "pathogenic" "" "0000580524" "0" "95" "21" "45708296" "45708296" "subst" "4.07266E-6" "02977" "AIRE_000052" "g.45708296C>T" "" "{PMID:Bjorses 2000:10677297}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44288413C>T" "" "pathogenic" "" "0000580525" "0" "95" "21" "45708296" "45708296" "subst" "4.07266E-6" "02977" "AIRE_000052" "g.45708296C>T" "" "{PMID:Cervato 2010:20718774}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44288413C>T" "" "pathogenic" "" "0000580526" "0" "95" "21" "45708296" "45708296" "subst" "4.07266E-6" "02977" "AIRE_000052" "g.45708296C>T" "" "{PMID:Cervato 2009:18616706}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44288413C>T" "" "pathogenic" "" "0000580527" "0" "95" "21" "45708296" "45708296" "subst" "4.07266E-6" "02977" "AIRE_000052" "g.45708296C>T" "" "{PMID:Mazza 2011:21295522}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44288413C>T" "" "pathogenic" "" "0000580528" "2" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Nagamine 1997:09398839}, {OMIM607358:0001}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580529" "0" "55" "21" "45709542" "45709542" "subst" "4.48317E-5" "02977" "AIRE_000053" "g.45709542G>A" "" "" "" "-" "GGC>AGC" "Unknown" "" "" "0" "" "" "g.44289659G>A" "" "VUS" "" "0000580530" "0" "95" "21" "45709569" "45709569" "subst" "0" "02977" "AIRE_000054" "g.45709569G>T" "" "{PMID:Cetani 2001:11600535}" "" "-" "GGG>TGG" "Unknown" "" "" "0" "" "" "g.44289686G>T" "" "pathogenic" "" "0000580531" "0" "55" "21" "45709605" "45709605" "subst" "5.70274E-5" "02977" "AIRE_000055" "g.45709605G>A" "" "" "" "-" "GGC>AGC" "Unknown" "" "" "0" "" "" "g.44289722G>A" "" "VUS" "" "0000580532" "0" "55" "21" "45709626" "45709626" "subst" "3.26246E-5" "02977" "AIRE_000056" "g.45709626C>T" "" "" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44289743C>T" "" "VUS" "" "0000580533" "0" "55" "21" "45709635" "45709635" "subst" "3.27281E-5" "02977" "AIRE_000057" "g.45709635A>T" "" "" "" "-" "AGT>TGT" "Unknown" "" "" "0" "" "" "g.44289752A>T" "" "VUS" "" "0000580534" "0" "95" "21" "45709642" "45709642" "subst" "0.00248942" "02977" "AIRE_000058" "g.45709642C>T" "" "{PMID:Meloni 2002:11836330}" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44289759C>T" "" "pathogenic" "" "0000580535" "1" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "several patients" "{PMID:Nagamine 1997:09398839}, {OMIM607358:0001}" "" "-" "founder haplotype Finland" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580536" "2" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "several patients" "{PMID:Nagamine 1997:09398839}, {OMIM607358:0001}" "" "-" "founder haplotype Finland" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580537" "0" "95" "21" "45709676" "45709676" "del" "0" "02977" "AIRE_000060" "g.45709676del" "" "Vogel 2003 Exp Clin Endocrinol Diabetes, Harris 2003 JCEM" "" "-" "GGC GCT > GGG CTG" "Unknown" "" "" "0" "" "" "g.44289793del" "" "pathogenic" "" "0000580538" "0" "55" "21" "45709680" "45709680" "subst" "3.27912E-5" "02977" "AIRE_000061" "g.45709680G>A" "" "" "" "-" "GCC>ACC" "Unknown" "" "" "0" "" "" "g.44289797G>A" "" "VUS" "" "0000580539" "0" "95" "21" "45709685" "45709685" "del" "0" "02977" "AIRE_000062" "g.45709685del" "" "Brachet Horm Res 2009" "" "-" "CCC GGT > CCG GTG" "Unknown" "" "" "0" "" "" "g.44289802del" "" "pathogenic" "" "0000580540" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Wolff 2007:17118990}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580541" "1" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "6/7 patients" "{PMID:Stolarski 2006:16965330}, {OMIM607358:0001}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580542" "2" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "6/7 patients" "{PMID:Stolarski 2006:16965330}, {OMIM607358:0001}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580543" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Podkrajsek 2005:15886230}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580544" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Buzi 2003:12843157}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580545" "3" "90" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "-" "CGA>TGA" "Germline" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic (recessive)" "" "0000580546" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Orlova 2010:20407228}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580547" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Cervato 2010:20718774}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580548" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Cervato 2009:18616706}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580549" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:F Magitta 2008:18426830}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580550" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Myhre 1998:09851752}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580551" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Heino 1999:09888391}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580552" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Vogel 2001:11343230}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580553" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Zaidi 2009:19807739}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580554" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Toth 2010:19863576}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580555" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "5/16 patients" "{PMID:Wang 1998:09921903}, {OMIM607358:0001}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580556" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Liu 2010:20140861}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580557" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Saugier-Veber 2001:11275943}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580558" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Cihakova 2001:11524733}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580559" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Pearce 1998:09837820}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580560" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Scott 1998:09717837}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580561" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "Myhre 2001 Clin Endocrinol Oxf" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580562" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "Lankisch 2005 J Pediatr" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580563" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "Freisinger 2005 Horm Res" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580564" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Mazza 2011:21295522}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580565" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Halonen 2002:12050215}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580566" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Finnish-German APECED Consortium 1997:09398840}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580567" "0" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Bjorses 2000:10677297}" "" "-" "CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580568" "1" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Nagamine 1997:09398839}, {OMIM607358:0001}" "" "-" "founder haplotype Finland" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580569" "2" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "" "{PMID:Nagamine 1997:09398839}, {OMIM607358:0001}" "" "-" "founder haplotype Finland" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580570" "1" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000000" "g.45709656C>T" "" "{PMID:Nagamine 1997:09398839}, {OMIM607358:0001}" "" "-" "unknown variant 2nd chromosome; founder haplotype Finland" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580571" "1" "95" "21" "45709656" "45709656" "subst" "0.000769489" "02977" "AIRE_000059" "g.45709656C>T" "1/7 patients" "{PMID:Stolarski 2006:16965330}, {OMIM607358:0001}" "" "-" "unknown variant 2nd chromosome; CGA>TGA" "Unknown" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic" "" "0000580572" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "Wang 1998 Hum Genet" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580573" "0" "95" "21" "45709917" "45709917" "dup" "0" "02977" "AIRE_000064" "g.45709917dup" "" "{PMID:Faiyaz-Ul-Haque 2009:19758376}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44290034dup" "" "pathogenic" "" "0000580574" "0" "95" "21" "45709952" "45709952" "subst" "0" "02977" "AIRE_000128" "g.45709952G>A" "" "{PMID:Wolff 2007:17118990}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44290069G>A" "" "pathogenic" "" "0000580575" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Faiyaz-Ul-Haque 2009:19758376}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580576" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Scott 1998:09717837}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580577" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Ferrera 2007:17101293}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580578" "0" "10" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Podkrajsek 2008:18682433}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580579" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Tazi-Ahnini 2002:12542742}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580580" "0" "35" "21" "45710042" "45710042" "subst" "0" "02977" "AIRE_000287" "g.45710042G>A" "" "Tazi-Ahnini et al. [2002]" "" "-" "58637741" "Unknown" "" "" "0" "" "" "g.44290159G>A" "" "likely benign" "" "0000580581" "0" "35" "21" "45710098" "45710098" "subst" "0" "02977" "AIRE_000290" "g.45710098G>A" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44290215G>A" "" "likely benign" "" "0000580582" "0" "35" "21" "45710928" "45710928" "subst" "0" "02977" "AIRE_000306" "g.45710928G>A" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44291045G>A" "" "likely benign" "" "0000580583" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Sato 2002:12625412}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580584" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Stolarski 2006:16965330}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580585" "0" "15" "21" "45709906" "45709906" "subst" "0.140866" "02977" "AIRE_000063" "g.45709906C>G" "" "{PMID:Cervato 2010:20718774}" "" "-" "AGC>AGG" "Unknown" "" "" "0" "" "" "g.44290023C>G" "" "benign" "" "0000580586" "1" "90" "21" "45710990" "45710990" "subst" "8.1483E-6" "02977" "AIRE_000065" "g.45710990G>A" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "GAG>AAG" "Germline" "" "" "0" "" "" "g.44291107G>A" "" "pathogenic" "" "0000580587" "0" "55" "21" "45710999" "45710999" "subst" "0.00106422" "02977" "AIRE_000066" "g.45710999G>A" "" "{PMID:Soderbergh 2000:10634424}" "" "-" "GTG>ATG" "Unknown" "" "" "0" "" "" "g.44291116G>A" "" "VUS" "" "0000580588" "0" "95" "21" "45711000" "45711000" "subst" "0" "02977" "AIRE_000067" "g.45711000T>C" "" "{PMID:Tazi-Ahnini 2002:12542742}" "" "-" "GTG>GCG" "Unknown" "" "" "0" "" "" "g.44291117T>C" "" "pathogenic" "" "0000580589" "0" "95" "21" "45711003" "45711004" "del" "0" "02977" "AIRE_000068" "g.45711003_45711004del" "" "{PMID:Mazza 2011:21295522}" "" "-" "GTG TGT > GTG TCG" "Unknown" "" "" "0" "" "" "g.44291120_44291121del" "" "pathogenic" "" "0000580590" "0" "95" "21" "45711004" "45711004" "subst" "0" "02977" "AIRE_000069" "g.45711004T>A" "" "{PMID:Zaidi 2009:19807739}" "" "-" "TGT>TGA" "Unknown" "" "" "0" "" "" "g.44291121T>A" "" "pathogenic" "" "0000580591" "0" "95" "21" "45711006" "45711006" "subst" "0" "02977" "AIRE_000070" "g.45711006G>C" "" "{PMID:Stolarski 2006:16965330}" "" "-" "CGG>CCG" "Unknown" "" "" "0" "" "" "g.44291123G>C" "" "pathogenic" "" "0000580592" "0" "55" "21" "45711006" "45711006" "subst" "0.00020426" "02977" "AIRE_000071" "g.45711006G>A" "" "" "" "-" "CGG>CAG" "Unknown" "" "" "0" "" "" "g.44291123G>A" "" "VUS" "" "0000580593" "0" "55" "21" "45711011" "45711011" "subst" "0" "02977" "AIRE_000072" "g.45711011G>A" "" "{PMID:Vogel 2001:11343230}" "" "-" "GGC>AGC" "Unknown" "" "" "0" "" "" "g.44291128G>A" "" "VUS" "" "0000580594" "0" "55" "21" "45711025" "45711025" "subst" "0.00011062" "02977" "AIRE_000073" "g.45711025C>G" "" "Nejentsev 2009 Science" "" "-" "ATC>ATG" "Unknown" "" "" "0" "" "" "g.44291142C>G" "" "VUS" "" "0000580595" "0" "95" "21" "45711029" "45711029" "del" "0" "02977" "AIRE_000074" "g.45711029del" "" "{PMID:Stolarski 2006:16965330}" "" "-" "TGT>GTG" "Unknown" "" "" "0" "" "" "g.44291146del" "" "pathogenic" "" "0000580596" "0" "95" "21" "45711030" "45711030" "subst" "0" "02977" "AIRE_000075" "g.45711030G>A" "" "{PMID:Halonen 2002:12050215}" "" "-" "TGT>TAT" "Unknown" "" "" "0" "" "" "g.44291147G>A" "" "pathogenic" "" "0000580597" "0" "95" "21" "45711032" "45711032" "subst" "0" "02977" "AIRE_000076" "g.45711032G>A" "" "{PMID:Cervato 2010:20718774}" "" "-" "GAC>AAC" "Unknown" "" "" "0" "" "" "g.44291149G>A" "" "pathogenic" "" "0000580598" "0" "55" "21" "45711044" "45711044" "subst" "3.32069E-5" "02977" "AIRE_000077" "g.45711044C>T" "" "" "" "-" "CGG>TGG" "Unknown" "" "" "0" "" "" "g.44291161C>T" "" "VUS" "" "0000580599" "0" "95" "21" "45711064" "45711067" "dup" "0" "02977" "AIRE_000078" "g.45711064_45711067dup" "" "{PMID:Scott 1998:09717837}" "" "-" "TCC>CCT" "Unknown" "" "" "0" "" "" "g.44291181_44291184dup" "" "pathogenic" "" "0000580600" "0" "95" "21" "45711075" "45711075" "subst" "0" "02977" "AIRE_000080" "g.45711075C>A" "" "{PMID:Bjorses 2000:10677297}" "" "-" "CCG>CAG" "Unknown" "" "" "0" "" "" "g.44291192C>A" "" "pathogenic" "" "0000580601" "0" "95" "21" "45711075" "45711075" "subst" "8.50102E-6" "02977" "AIRE_000081" "g.45711075C>T" "" "{PMID:Saugier-Veber 2001:11275943}" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44291192C>T" "" "pathogenic" "" "0000580602" "0" "55" "21" "45711080" "45711080" "subst" "0.000183787" "02977" "AIRE_000082" "g.45711080C>T" "" "Nejentsev 2009 Science" "" "-" "CGG>TGG" "Unknown" "" "" "0" "" "" "g.44291197C>T" "" "VUS" "" "0000580603" "0" "55" "21" "45711093" "45711093" "subst" "0" "02977" "AIRE_000083" "g.45711093G>C" "" "" "" "-" "AGT>ACT" "Unknown" "" "" "0" "" "" "g.44291210G>C" "" "VUS" "" "0000580604" "0" "95" "21" "45711096" "45711096" ";" "0" "02977" "AIRE_000129" "g.[45711096G>T;45711098G>T]" "" "{PMID:Mazza 2011:21295522}" "" "-" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000580605" "0" "95" "21" "45711098" "45711098" "subst" "0" "02977" "AIRE_000130" "g.45711098G>T" "" "{PMID:Meloni 2005:15712268}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44291215G>T" "" "pathogenic" "" "0000580606" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Orlova 2010:20407228}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580607" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Halonen 2002:12050215}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580608" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Dominguez 2006:17220063}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580609" "0" "55" "21" "45710999" "45710999" "subst" "0.00106422" "02977" "AIRE_000066" "g.45710999G>A" "" "{PMID:Soderbergh 2000:10634424}" "" "-" "GTG>ATG" "Unknown" "" "" "0" "" "" "g.44291116G>A" "" "VUS" "" "0000580610" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Bjorses 2000:10677297}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580611" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Harris 2003:14557425}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580612" "0" "95" "21" "45710990" "45710990" "subst" "8.1483E-6" "02977" "AIRE_000065" "g.45710990G>A" "" "{PMID:Orlova 2010:20407228}" "" "-" "GAG>AAG" "Unknown" "" "" "0" "" "" "g.44291107G>A" "" "pathogenic" "" "0000580613" "0" "55" "21" "45710999" "45710999" "subst" "0.00106422" "02977" "AIRE_000066" "g.45710999G>A" "" "{PMID:Ferrera 2007:17101293}" "" "-" "GTG>ATG" "Unknown" "" "" "0" "" "" "g.44291116G>A" "" "VUS" "" "0000580614" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Rosatelli 1998:09856486}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580615" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Cervato 2009:18616706}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580616" "0" "95" "21" "45711064" "45711067" "dup" "0" "02977" "AIRE_000078" "g.45711064_45711067dup" "" "{PMID:Bjorses 2000:10677297}" "" "-" "TCC>CCT" "Unknown" "" "" "0" "" "" "g.44291181_44291184dup" "" "pathogenic" "" "0000580617" "0" "95" "21" "45711029" "45711029" "del" "0" "02977" "AIRE_000074" "g.45711029del" "" "{PMID:Bjorses 2000:10677297}" "" "-" "TGT>GTG" "Unknown" "" "" "0" "" "" "g.44291146del" "" "pathogenic" "" "0000580618" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Cihakova 2001:11524733}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580619" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Mazza 2011:21295522}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580620" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "Myhre 2001 Clin Endocrinol Oxf" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580621" "0" "95" "21" "45711003" "45711004" "del" "0" "02977" "AIRE_000068" "g.45711003_45711004del" "" "{PMID:Cervato 2009:18616706}" "" "-" "GTG TGT > GTG TCG" "Unknown" "" "" "0" "" "" "g.44291120_44291121del" "" "pathogenic" "" "0000580622" "0" "95" "21" "45711030" "45711030" "subst" "0" "02977" "AIRE_000075" "g.45711030G>A" "" "{PMID:Bjorses 2000:10677297}" "" "-" "TGT>TAT" "Unknown" "" "" "0" "" "" "g.44291147G>A" "" "pathogenic" "" "0000580623" "1" "90" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Podkrajsek 2008:18682433}" "" "967_979del13" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic (recessive)" "" "0000580624" "0" "95" "21" "45711029" "45711029" "del" "0" "02977" "AIRE_000074" "g.45711029del" "" "{PMID:Halonen 2002:12050215}" "" "-" "TGT>GTG" "Unknown" "" "" "0" "" "" "g.44291146del" "" "pathogenic" "" "0000580625" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Zaidi 2009:19807739}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580626" "0" "35" "21" "45711141" "45711141" "subst" "0" "02977" "AIRE_000310" "g.45711141C>G" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44291258C>G" "" "likely benign" "" "0000580627" "0" "55" "21" "45710999" "45710999" "subst" "0.00106422" "02977" "AIRE_000066" "g.45710999G>A" "" "{PMID:Orlova 2010:20407228}" "" "-" "GTG>ATG" "Unknown" "" "" "0" "" "" "g.44291116G>A" "" "VUS" "" "0000580628" "0" "95" "21" "45711064" "45711067" "dup" "0" "02977" "AIRE_000078" "g.45711064_45711067dup" "" "{PMID:Finnish-German APECED Consortium 1997:09398840}" "" "-" "TCC>CCT" "Unknown" "" "" "0" "" "" "g.44291181_44291184dup" "" "pathogenic" "" "0000580629" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "Capalbo 2009 Horm Res" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580630" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Stolarski 2006:16965330}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580631" "0" "55" "21" "45710999" "45710999" "subst" "0.00106422" "02977" "AIRE_000066" "g.45710999G>A" "" "{PMID:Orlova 2010:20407228}" "" "-" "GTG>ATG" "Unknown" "" "" "0" "" "" "g.44291116G>A" "" "VUS" "" "0000580632" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "Montin 2008 Clin Exp Immunol" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580633" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:F Magitta 2008:18426830}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580634" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Toth 2010:19863576}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580635" "0" "95" "21" "45711029" "45711029" "del" "0" "02977" "AIRE_000074" "g.45711029del" "" "{PMID:Meloni 2002:11836330}" "" "-" "TGT>GTG" "Unknown" "" "" "0" "" "" "g.44291146del" "" "pathogenic" "" "0000580636" "0" "95" "21" "45711098" "45711098" "subst" "0" "02977" "AIRE_000130" "g.45711098G>T" "" "{PMID:Cervato 2010:20718774}" "" "-" "erroneously indicated as c.994+5G>T; in Cervato 2010 Clin Endocrinol Oxf indicated as IVS9+5G>T: does not exist, as they intended IVS8+5G>T, as told to me by Prof. Betterle" "Unknown" "" "" "0" "" "" "g.44291215G>T" "" "pathogenic" "" "0000580637" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "Ward 1999 JCEM" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580638" "0" "55" "21" "45710999" "45710999" "subst" "0.00106422" "02977" "AIRE_000066" "g.45710999G>A" "" "{PMID:Ferrera 2007:17101293}" "" "-" "GTG>ATG" "Unknown" "" "" "0" "" "" "g.44291116G>A" "" "VUS" "" "0000580639" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Wang 1998:09921903}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580640" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Scott 1998:09717837}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580641" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Heino 1999:09888391}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580642" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "Vogel 2003 Exp Clin Endocrinol Diab" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580643" "0" "95" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Wolff 2007:17118990}" "" "-" "CTG ... CTC > TCC" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580644" "0" "95" "21" "45711003" "45711004" "del" "0" "02977" "AIRE_000068" "g.45711003_45711004del" "" "Bazzara 2008 Horm Res" "" "-" "GTG TGT > GTG TCG" "Unknown" "" "" "0" "" "" "g.44291120_44291121del" "" "pathogenic" "" "0000580646" "0" "97" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000466" "g.45711065_45711077del" "" "{PMID:Finnish-German APECED Consortium 1997:09398840}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580647" "0" "97" "21" "45711065" "45711077" "del" "0" "02977" "AIRE_000466" "g.45711065_45711077del" "" "{PMID:Pearce 1998:09837820}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580648" "0" "97" "21" "45711065" "45711077" "del" "0" "02984" "AIRE_000466" "g.45711065_45711077del" "2/126 alleles" "{PMID:Björses P et al 2000:10677297}" "" "1085-1097del. Frameshift, truncated 372-amino-acid protein" "" "Unknown" "" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000580649" "0" "55" "21" "45712240" "45712240" "subst" "0" "02977" "AIRE_000084" "g.45712240C>T" "" "" "" "-" "CGG>TGG" "Unknown" "" "" "0" "" "" "g.44292357C>T" "" "VUS" "" "0000580650" "0" "55" "21" "45712241" "45712241" "subst" "0" "02977" "AIRE_000085" "g.45712241G>A" "" "" "" "-" "CGG>CAG" "Unknown" "" "" "0" "" "" "g.44292358G>A" "" "VUS" "" "0000580651" "0" "95" "21" "45712242" "45712249" "del" "0" "02977" "AIRE_000086" "g.45712242_45712249del" "" "{PMID:Orlova 2010:20407228}" "" "-" "CGG GCA GAG GAG > CGA GCC CCG" "Unknown" "" "" "0" "" "" "g.44292359_44292366del" "" "pathogenic" "" "0000580652" "0" "95" "21" "45712256" "45712260" "dup" "0" "02977" "AIRE_000087" "g.45712256_45712260dup" "" "{PMID:Podkrajsek 2005:15886230}" "" "-" "CCC CAG > CCC GGC" "Unknown" "" "" "0" "" "" "g.44292373_44292377dup" "" "pathogenic" "" "0000580653" "0" "95" "21" "45712261" "45712261" "subst" "0" "02977" "AIRE_000088" "g.45712261C>T" "" "{PMID:Meloni 2002:11836330}" "" "-" "CAG>TAG" "Unknown" "" "" "0" "" "" "g.44292378C>T" "" "pathogenic" "" "0000580654" "0" "95" "21" "45712875" "45712875" "subst" "4.08851E-6" "02977" "AIRE_000131" "g.45712875G>A" "" "{PMID:Heino 1999:09888391}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44292992G>A" "" "pathogenic" "" "0000580655" "0" "95" "21" "45712875" "45712875" "subst" "0" "02977" "AIRE_000132" "g.45712875G>C" "" "Kogawa 2002 Clin Immunol" "" "-" "" "Unknown" "" "" "0" "" "" "g.44292992G>C" "" "pathogenic" "" "0000580656" "0" "35" "21" "45712254" "45712254" "subst" "0.00126343" "02977" "AIRE_000158" "g.45712254C>T" "" "Magitta et al. [2008]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44292371C>T" "" "likely benign" "" "0000580658" "0" "35" "21" "45712365" "45712365" "subst" "0" "02977" "AIRE_000334" "g.45712365C>T" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44292482C>T" "" "likely benign" "" "0000580659" "0" "95" "21" "45712261" "45712261" "subst" "0" "02977" "AIRE_000088" "g.45712261C>T" "" "{PMID:Cervato 2009:18616706}" "" "-" "CAG>TAG" "Unknown" "" "" "0" "" "" "g.44292378C>T" "" "pathogenic" "" "0000580661" "0" "95" "21" "45712883" "45712883" "dup" "0" "02977" "AIRE_000089" "g.45712883dup" "" "{PMID:Ishii 2000:10946904}" "" "-" "CCG GGG CTT > CCC GGG GCT" "Unknown" "" "" "0" "" "" "g.44293000dup" "" "pathogenic" "" "0000580662" "0" "55" "21" "45712885" "45712885" "subst" "0" "02977" "AIRE_000090" "g.45712885G>A" "" "Wei 2011 Nat Genet" "" "-" "GGG>AGG" "Unknown" "" "" "0" "" "" "g.44293002G>A" "" "VUS" "" "0000580663" "0" "55" "21" "45712898" "45712898" "subst" "0.000596035" "02977" "AIRE_000091" "g.45712898C>T" "" "" "" "-" "GCG>GTG" "Unknown" "" "" "0" "" "" "g.44293015C>T" "" "VUS" "" "0000580664" "0" "55" "21" "45712922" "45712922" "subst" "1.22422E-5" "02977" "AIRE_000092" "g.45712922C>T" "" "" "" "-" "CCT>CTT" "Unknown" "" "" "0" "" "" "g.44293039C>T" "" "VUS" "" "0000580665" "0" "95" "21" "45712943" "45712944" "ins" "6.12645E-5" "02977" "AIRE_000093" "g.45712943_45712944insA" "" "{PMID:Finnish-German APECED Consortium 1997:09398840}" "" "-" "ATG>ATA" "Unknown" "" "" "0" "" "" "g.44293060_44293061insA" "" "pathogenic" "" "0000580666" "0" "95" "21" "45712969" "45712969" "del" "0" "02977" "AIRE_000094" "g.45712969del" "" "Lankisch 2005 J Pediatr" "" "-" "CTG>TGC" "Unknown" "" "" "0" "" "" "g.44293086del" "" "pathogenic" "" "0000580667" "0" "95" "21" "45712973" "45712973" "del" "0" "02977" "AIRE_000095" "g.45712973del" "" "Lankisch 2005 J Pediatr" "" "-" "CCG>CGG" "Unknown" "" "" "0" "" "" "g.44293090del" "" "pathogenic" "" "0000580668" "0" "55" "21" "45712979" "45712979" "subst" "0.000604945" "02977" "AIRE_000096" "g.45712979C>T" "" "" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44293096C>T" "" "VUS" "" "0000580669" "0" "55" "21" "45713011" "45713012" "ins" "0" "02977" "AIRE_000097" "g.45713011_45713012insA" "" "" "" "-" "TCC>TAC" "Unknown" "" "" "0" "" "" "g.44293128_44293129insA" "" "VUS" "" "0000580670" "0" "95" "21" "45713016" "45713019" "dup" "0" "02977" "AIRE_000098" "g.45713016_45713019dup" "" "{PMID:Faiyaz-Ul-Haque 2009:19758376}" "" "-" "GCC CTG > GCC GGC" "Unknown" "" "" "0" "" "" "g.44293133_44293136dup" "" "pathogenic" "" "0000580671" "0" "95" "21" "45713022" "45713023" "ins" "0" "02977" "AIRE_000099" "g.45713022_45713023insA" "" "{PMID:Wolff 2007:17118990}" "" "-" "CAC>ACA" "Unknown" "" "" "0" "" "" "g.44293139_44293140insA" "" "pathogenic" "" "0000580672" "0" "55" "21" "45713024" "45713024" "subst" "0.000212299" "02977" "AIRE_000100" "g.45713024A>G" "" "" "" "-" "CAC>CGC" "Unknown" "" "" "0" "" "" "g.44293141A>G" "" "VUS" "" "0000580673" "0" "95" "21" "45713029" "45713029" "dup" "0" "02977" "AIRE_000101" "g.45713029dup" "" "{PMID:Wolff 2007:17118990}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293146dup" "" "pathogenic" "" "0000580674" "0" "95" "21" "45713029" "45713029" "del" "0" "02977" "AIRE_000102" "g.45713029del" "" "{PMID:Pearce 1998:09837820}" "" "-" "CTA>TAC" "Unknown" "" "" "0" "" "" "g.44293146del" "" "pathogenic" "" "0000580675" "0" "95" "21" "45713045" "45713045" "del" "0" "02977" "AIRE_000103" "g.45713045del" "" "{PMID:Pearce 1998:09837820}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293162del" "" "pathogenic" "" "0000580676" "0" "95" "21" "45713045" "45713045" "del" "0" "02977" "AIRE_000103" "g.45713045del" "" "{PMID:Heino 1999:09888391}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293162del" "" "pathogenic" "" "0000580677" "0" "95" "21" "45712943" "45712944" "ins" "6.12645E-5" "02977" "AIRE_000093" "g.45712943_45712944insA" "" "{PMID:Bjorses 2000:10677297}" "" "-" "ATG>ATA" "Unknown" "" "" "0" "" "" "g.44293060_44293061insA" "" "pathogenic" "" "0000580678" "0" "95" "21" "45713029" "45713029" "dup" "0" "02977" "AIRE_000101" "g.45713029dup" "" "{PMID:Bjorses 2000:10677297}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293146dup" "" "pathogenic" "" "0000580679" "0" "95" "21" "45713029" "45713029" "dup" "0" "02977" "AIRE_000101" "g.45713029dup" "" "{PMID:Halonen 2002:12050215}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293146dup" "" "pathogenic" "" "0000580680" "0" "95" "21" "45712943" "45712944" "ins" "6.12645E-5" "02977" "AIRE_000093" "g.45712943_45712944insA" "" "{PMID:Halonen 2002:12050215}" "" "-" "ATG>ATA" "Unknown" "" "" "0" "" "" "g.44293060_44293061insA" "" "pathogenic" "" "0000580681" "0" "95" "21" "45713022" "45713023" "ins" "0" "02977" "AIRE_000099" "g.45713022_45713023insA" "" "{PMID:Halonen 2002:12050215}" "" "-" "CAC>ACA" "Unknown" "" "" "0" "" "" "g.44293139_44293140insA" "" "pathogenic" "" "0000580682" "0" "95" "21" "45712973" "45712973" "del" "0" "02977" "AIRE_000095" "g.45712973del" "" "{PMID:Halonen 2002:12050215}" "" "-" "CCG>CGG" "Unknown" "" "" "0" "" "" "g.44293090del" "" "pathogenic" "" "0000580683" "0" "95" "21" "45712973" "45712973" "del" "0" "02977" "AIRE_000095" "g.45712973del" "" "{PMID:Bjorses 2000:10677297}" "" "-" "CCG>CGG" "Unknown" "" "" "0" "" "" "g.44293090del" "" "pathogenic" "" "0000580684" "0" "95" "21" "45712969" "45712969" "del" "0" "02977" "AIRE_000094" "g.45712969del" "" "{PMID:Bjorses 2000:10677297}" "" "-" "CTG>TGC" "Unknown" "" "" "0" "" "" "g.44293086del" "" "pathogenic" "" "0000580685" "0" "95" "21" "45712969" "45712969" "del" "0" "02977" "AIRE_000094" "g.45712969del" "" "{PMID:Halonen 2002:12050215}" "" "-" "CTG>TGC" "Unknown" "" "" "0" "" "" "g.44293086del" "" "pathogenic" "" "0000580686" "0" "95" "21" "45713022" "45713023" "ins" "0" "02977" "AIRE_000099" "g.45713022_45713023insA" "" "{PMID:Myhre 1998:09851752}" "" "-" "CAC>ACA" "Unknown" "" "" "0" "" "" "g.44293139_44293140insA" "" "pathogenic" "" "0000580687" "0" "35" "21" "45713063" "45713063" "subst" "0" "02977" "AIRE_000345" "g.45713063G>A" "" "Mango et al. [2001]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293180G>A" "" "likely benign" "" "0000580688" "0" "95" "21" "45712943" "45712944" "ins" "6.12645E-5" "02977" "AIRE_000093" "g.45712943_45712944insA" "" "Myhre 2001 Clin Endocrinol Oxf" "" "-" "ATG>ATA" "Unknown" "" "" "0" "" "" "g.44293060_44293061insA" "" "pathogenic" "" "0000580689" "0" "95" "21" "45713029" "45713029" "dup" "0" "02977" "AIRE_000101" "g.45713029dup" "" "Myhre 2001 Clin Endocrinol Oxf" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293146dup" "" "pathogenic" "" "0000580690" "0" "95" "21" "45713022" "45713023" "ins" "0" "02977" "AIRE_000099" "g.45713022_45713023insA" "" "Myhre 2001 Clin Endocrinol Oxf" "" "-" "CAC>ACA" "Unknown" "" "" "0" "" "" "g.44293139_44293140insA" "" "pathogenic" "" "0000580691" "0" "95" "21" "45712943" "45712944" "ins" "6.12645E-5" "02977" "AIRE_000093" "g.45712943_45712944insA" "" "{PMID:Wolff 2007:17118990}" "" "-" "ATG>ATA" "Unknown" "" "" "0" "" "" "g.44293060_44293061insA" "" "pathogenic" "" "0000580692" "0" "95" "21" "45712973" "45712973" "del" "0" "02977" "AIRE_000095" "g.45712973del" "" "{PMID:Finnish-German APECED Consortium 1997:09398840}" "" "-" "CCG>CGG" "Unknown" "" "" "0" "" "" "g.44293090del" "" "pathogenic" "" "0000580694" "0" "95" "21" "45713688" "45713689" "ins" "0" "02977" "AIRE_000104" "g.45713688_45713689insAC" "" "{PMID:Wang 1998:09921903}" "" "-" "GCG CGT TGC > GCA CGC GTT" "Unknown" "" "" "0" "" "" "g.44293805_44293806insAC" "" "pathogenic" "" "0000580695" "0" "95" "21" "45713689" "45713689" "delins" "0" "02977" "AIRE_000105" "g.45713689delinsAC" "" "{PMID:Heino 1999:09888391}" "" "-" "GCG CGT > GCA CCG" "Unknown" "" "" "0" "" "" "g.44293806delinsAC" "" "pathogenic" "" "0000580696" "0" "95" "21" "45713707" "45713719" "delins" "0" "02977" "AIRE_000106" "g.45713707_45713719delinsGT" "" "{PMID:Lintas 2008:17891543}" "" "-" "GGA GAT … GAC GTG > GGG TGT" "Unknown" "" "" "0" "" "" "g.44293824_44293836delinsGT" "" "pathogenic" "" "0000580697" "0" "55" "21" "45713715" "45713715" "subst" "0.00140148" "02977" "AIRE_000107" "g.45713715C>T" "" "Nejentsev 2009 Science" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44293832C>T" "" "VUS" "" "0000580698" "0" "95" "21" "45713729" "45713729" "subst" "0" "02977" "AIRE_000108" "g.45713729T>G" "" "{PMID:Wolff 2007:17118990}" "" "-" "TGT>GGT" "Unknown" "" "" "0" "" "" "g.44293846T>G" "" "pathogenic" "" "0000580699" "0" "95" "21" "45713737" "45713737" "del" "0" "02977" "AIRE_000109" "g.45713737del" "" "{PMID:Toth 2010:19863576}" "" "-" "CAC TGC > CAT GCG" "Unknown" "" "" "0" "" "" "g.44293854del" "" "pathogenic" "" "0000580700" "0" "95" "21" "45713737" "45713737" "delins" "0" "02977" "AIRE_000110" "g.45713737delinsTT" "" "{PMID:Sato 2004:15270412}" "" "-" "CAC TGC > CAT TTG" "Unknown" "" "" "0" "" "" "g.44293854delinsTT" "" "pathogenic" "" "0000580701" "0" "95" "21" "45713740" "45713740" "subst" "0" "02977" "AIRE_000111" "g.45713740C>A" "" "{PMID:Mazza 2011:21295522}" "" "-" "TGC>TGA" "Unknown" "" "" "0" "" "" "g.44293857C>A" "" "pathogenic" "" "0000580702" "0" "55" "21" "45713744" "45713744" "subst" "4.30808E-5" "02977" "AIRE_000112" "g.45713744G>A" "" "" "" "-" "GCT>ACT" "Unknown" "" "" "0" "" "" "g.44293861G>A" "" "VUS" "" "0000580703" "0" "95" "21" "45713763" "45713763" "dup" "0" "02977" "AIRE_000113" "g.45713763dup" "" "{PMID:Mazza 2011:21295522}" "" "-" "TGC>TGG" "Unknown" "" "" "0" "" "" "g.44293880dup" "" "pathogenic" "" "0000580704" "0" "55" "21" "45713771" "45713771" "subst" "1.72429E-5" "02977" "AIRE_000114" "g.45713771C>T" "" "" "" "-" "CCA>TCA" "Unknown" "" "" "0" "" "" "g.44293888C>T" "" "VUS" "" "0000580705" "0" "55" "21" "45713787" "45713787" "subst" "6.47736E-5" "02977" "AIRE_000115" "g.45713787G>A" "" "" "" "-" "CGG>CAG" "Unknown" "" "" "0" "" "" "g.44293904G>A" "" "VUS" "" "0000580706" "0" "95" "21" "45713794" "45713794" "subst" "0" "02977" "AIRE_000133" "g.45713794G>A" "" "{PMID:Sato 2004:15270412}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44293911G>A" "" "pathogenic" "" "0000580708" "0" "55" "21" "45713715" "45713715" "subst" "0.00140148" "02977" "AIRE_000107" "g.45713715C>T" "" "{PMID:Ferrera 2007:17101293}" "" "-" "ACG>ATG" "Unknown" "" "" "0" "" "" "g.44293832C>T" "" "VUS" "" "0000580709" "0" "55" "21" "45714294" "45714294" "subst" "0.00931112" "02977" "AIRE_000116" "g.45714294C>T" "" "Lankisch 2005 J Pediatr" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44294411C>T" "" "VUS" "" "0000580710" "0" "95" "21" "45714333" "45714333" "subst" "9.97208E-5" "02977" "AIRE_000117" "g.45714333G>A" "" "{PMID:Buzi 2003:12843157}" "" "-" "GTG>ATG" "Unknown" "" "" "0" "" "" "g.44294450G>A" "" "pathogenic" "" "0000580711" "0" "95" "21" "45714369" "45714381" "del" "0" "02977" "AIRE_000118" "g.45714369_45714381del" "" "Shin and Lee 2011 Horm Res Paediatr" "" "-" "GCC ... GCC > CCA" "Unknown" "" "" "0" "" "" "g.44294486_44294498del" "" "pathogenic" "" "0000580712" "0" "55" "21" "45714294" "45714294" "subst" "0.00931112" "02977" "AIRE_000116" "g.45714294C>T" "" "{PMID:Cervato 2010:20718774}" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44294411C>T" "" "VUS" "" "0000580713" "0" "55" "21" "45714294" "45714294" "subst" "0.00931112" "02977" "AIRE_000116" "g.45714294C>T" "" "{PMID:Orlova 2010:20407228}" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44294411C>T" "" "VUS" "" "0000580714" "0" "55" "21" "45714294" "45714294" "subst" "0.00931112" "02977" "AIRE_000116" "g.45714294C>T" "" "{PMID:Toth 2010:19863576}" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44294411C>T" "" "VUS" "" "0000580715" "0" "55" "21" "45714294" "45714294" "subst" "0.00931112" "02977" "AIRE_000116" "g.45714294C>T" "" "Nejentsev 2009 Science" "" "-" "CGC>TGC" "Unknown" "" "" "0" "" "" "g.44294411C>T" "" "VUS" "" "0000580716" "0" "55" "21" "45716269" "45716269" "subst" "0.00326092" "02977" "AIRE_000119" "g.45716269G>A" "" "" "" "-" "GAC>AAC" "Unknown" "" "" "0" "" "" "g.44296386G>A" "" "VUS" "" "0000580717" "0" "95" "21" "45716275" "45716275" "del" "0" "02977" "AIRE_000120" "g.45716275del" "" "{PMID:Ishii 2000:10946904}" "" "-" "GCC>CCA" "Unknown" "" "" "0" "" "" "g.44296392del" "" "pathogenic" "" "0000580718" "0" "95" "21" "45717537" "45717537" "subst" "0" "02977" "AIRE_000134" "g.45717537A>G" "" "{PMIDABST:Richter-Unruh 2004}" "" "-" "" "Unknown" "" "" "0" "" "" "g.44297654A>G" "" "pathogenic" "" "0000580719" "0" "95" "21" "45717588" "45717588" "subst" "1.63259E-5" "02977" "AIRE_000121" "g.45717588C>T" "" "{PMID:Meloni 2002:11836330}" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44297705C>T" "" "pathogenic" "" "0000580720" "0" "95" "21" "45717610" "45717610" "subst" "8.17033E-6" "02977" "AIRE_000122" "g.45717610A>T" "" "{PMID:Scott 1998:09717837}" "" "-" "TGA>TGT" "Unknown" "" "" "0" "" "" "g.44297727A>T" "" "pathogenic" "" "0000580721" "0" "95" "21" "45717588" "45717588" "subst" "1.63259E-5" "02977" "AIRE_000121" "g.45717588C>T" "" "{PMID:Mazza 2011:21295522}" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44297705C>T" "" "pathogenic" "" "0000580722" "0" "95" "21" "45717610" "45717610" "subst" "8.17033E-6" "02977" "AIRE_000122" "g.45717610A>T" "" "{PMID:Bjorses 2000:10677297}" "" "-" "TGA>TGT" "Unknown" "" "" "0" "" "" "g.44297727A>T" "" "pathogenic" "" "0000580723" "0" "95" "21" "45717610" "45717610" "subst" "8.17033E-6" "02977" "AIRE_000122" "g.45717610A>T" "" "{PMID:Halonen 2002:12050215}" "" "-" "TGA>TGT" "Unknown" "" "" "0" "" "" "g.44297727A>T" "" "pathogenic" "" "0000580724" "0" "95" "21" "45717588" "45717588" "subst" "1.63259E-5" "02977" "AIRE_000121" "g.45717588C>T" "" "{PMID:Cervato 2010:20718774}" "" "-" "CCG>CTG" "Unknown" "" "" "0" "" "" "g.44297705C>T" "" "pathogenic" "" "0000580725" "0" "35" "21" "45717826" "45717826" "subst" "0" "02977" "AIRE_000445" "g.45717826G>A" "" "Tazi-Ahnini et al. [2002]" "" "-" "" "Unknown" "" "" "0" "" "" "g.44297943G>A" "" "likely benign" "" "0000618386" "0" "30" "21" "45705952" "45705952" "subst" "0.00197819" "01943" "AIRE_000135" "g.45705952C>T" "" "" "" "AIRE(NM_000383.2):c.63C>T (p.A21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44286069C>T" "" "likely benign" "" "0000618387" "0" "90" "21" "45707425" "45707425" "del" "0" "02325" "AIRE_000544" "g.45707425del" "" "" "" "AIRE(NM_000383.4):c.489delC (p.K164Rfs*214)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44287542del" "" "pathogenic" "" "0000618388" "0" "30" "21" "45709676" "45709676" "subst" "0.00149604" "01943" "AIRE_000545" "g.45709676C>T" "" "" "" "AIRE(NM_000383.2):c.789C>T (p.G263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44289793C>T" "" "likely benign" "" "0000618389" "0" "90" "21" "45711065" "45711077" "del" "0" "02325" "AIRE_000079" "g.45711065_45711077del" "" "" "" "AIRE(NM_000383.2):c.967_979delCTGTCCCCTCCGC (p.L323Sfs*51), AIRE(NM_000383.3):c.967_979delCTGTCCCCTCCGC (p.(Leu323fs)), AIRE(NM_000383.4):c.967_979..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000618390" "0" "50" "21" "45713720" "45713720" "subst" "0.000158243" "01943" "AIRE_000548" "g.45713720G>A" "" "" "" "AIRE(NM_000383.2):c.1327G>A (p.V443M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44293837G>A" "" "VUS" "" "0000618391" "0" "30" "21" "45714359" "45714359" "subst" "3.40136E-5" "01943" "AIRE_000549" "g.45714359C>A" "" "" "" "AIRE(NM_000383.2):c.1476C>A (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44294476C>A" "" "likely benign" "" "0000624225" "0" "90" "21" "45709656" "45709656" "subst" "0.000769489" "02326" "AIRE_000059" "g.45709656C>T" "" "" "" "AIRE(NM_000383.2):c.769C>T (p.R257*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44289773C>T" "" "pathogenic" "" "0000624226" "0" "30" "21" "45709854" "45709854" "subst" "0.000724429" "02326" "AIRE_000546" "g.45709854G>A" "" "" "" "AIRE(NM_000383.2):c.799-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44289971G>A" "" "likely benign" "" "0000624227" "0" "30" "21" "45711034" "45711034" "subst" "5.36937E-5" "02326" "AIRE_000547" "g.45711034C>T" "" "" "" "AIRE(NM_000383.2):c.936C>T (p.D312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44291151C>T" "" "likely benign" "" "0000624228" "0" "90" "21" "45711065" "45711077" "del" "0" "02326" "AIRE_000079" "g.45711065_45711077del" "" "" "" "AIRE(NM_000383.2):c.967_979delCTGTCCCCTCCGC (p.L323Sfs*51), AIRE(NM_000383.3):c.967_979delCTGTCCCCTCCGC (p.(Leu323fs)), AIRE(NM_000383.4):c.967_979..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44291182_44291194del" "" "pathogenic" "" "0000650875" "1" "50" "21" "45706924" "45706924" "subst" "0.000246832" "03575" "AIRE_000550" "g.45706924C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs193922417}" "Germline" "" "rs193922417" "0" "" "" "g.44287041C>T" "" "VUS" "" "0000650876" "1" "70" "21" "45707016" "45707016" "subst" "0" "03575" "AIRE_000040" "g.45707016G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193922418}" "Germline" "" "rs193922418" "0" "" "" "g.44287133G>A" "" "likely pathogenic" "" "0000650877" "1" "90" "21" "45709569" "45709569" "subst" "0" "03575" "AIRE_000054" "g.45709569G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121434257}" "Germline" "" "rs121434257" "0" "" "" "g.44289686G>T" "" "pathogenic" "" "0000650879" "1" "50" "21" "45713715" "45713715" "subst" "0.00140148" "03575" "AIRE_000107" "g.45713715C>T" "7/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs72650677}" "Germline" "" "rs72650677" "0" "" "" "g.44293832C>T" "" "VUS" "" "0000650880" "1" "30" "21" "45714294" "45714294" "subst" "0.00931112" "03575" "AIRE_000116" "g.45714294C>T" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs74203920}" "Germline" "" "rs74203920" "0" "" "" "g.44294411C>T" "" "likely benign" "" "0000658840" "0" "30" "21" "45707007" "45707007" "subst" "2.49621E-5" "01943" "AIRE_000551" "g.45707007G>A" "" "" "" "AIRE(NM_000383.2):c.454G>A (p.A152T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44287124G>A" "" "likely benign" "" "0000658841" "0" "50" "21" "45707415" "45707415" "subst" "0" "01943" "AIRE_000552" "g.45707415C>T" "" "" "" "AIRE(NM_000383.2):c.479C>T (p.A160V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44287532C>T" "" "VUS" "" "0000658842" "0" "30" "21" "45707467" "45707467" "subst" "0.000137242" "01943" "AIRE_000503" "g.45707467C>T" "" "" "" "AIRE(NM_000383.2):c.531C>T (p.L177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44287584C>T" "" "likely benign" "" "0000658843" "0" "30" "21" "45709592" "45709592" "subst" "0.000109954" "02326" "AIRE_000509" "g.45709592G>A" "" "" "" "AIRE(NM_000383.2):c.705G>A (p.K235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44289709G>A" "" "likely benign" "" "0000658844" "0" "30" "21" "45712254" "45712254" "subst" "0.00126343" "02326" "AIRE_000158" "g.45712254C>T" "" "" "" "AIRE(NM_000383.2):c.1065C>T (p.P355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44292371C>T" "" "likely benign" "" "0000681734" "0" "30" "21" "45709685" "45709685" "subst" "0.000299102" "02326" "AIRE_000553" "g.45709685C>G" "" "" "" "AIRE(NM_000383.2):c.798C>G (p.P266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681735" "0" "30" "21" "45710960" "45710960" "subst" "0.000500635" "02326" "AIRE_000554" "g.45710960G>A" "" "" "" "AIRE(NM_000383.2):c.880-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681736" "0" "50" "21" "45710999" "45710999" "subst" "0.00106422" "02325" "AIRE_000066" "g.45710999G>A" "" "" "" "AIRE(NM_000383.3):c.901G>A (p.(Val301Met)), AIRE(NM_000383.4):c.901G>A (p.V301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681737" "0" "70" "21" "45712286" "45712286" "subst" "2.84301E-5" "02327" "AIRE_000555" "g.45712286T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681738" "0" "30" "21" "45714359" "45714359" "subst" "0.000959184" "02326" "AIRE_000527" "g.45714359C>T" "" "" "" "AIRE(NM_000383.2):c.1476C>T (p.P492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681739" "0" "50" "21" "45716325" "45716325" "subst" "8.14445E-6" "02325" "AIRE_000556" "g.45716325C>A" "" "" "" "AIRE(NM_000383.4):c.1563C>A (p.S521R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686196" "0" "90" "21" "45709656" "45709656" "subst" "0.000769489" "01164" "AIRE_000059" "g.45709656C>T" "" "F&G APECED et al. 1997. Nat Genet 17: 399" "" "" "ACMG grading: PVS1,PS3,PS4,PP5" "Germline" "" "rs121434254" "0" "" "" "" "" "pathogenic" "ACMG" "0000693061" "0" "50" "21" "45713696" "45713696" "subst" "5.12746E-5" "02325" "AIRE_000557" "g.45713696G>A" "" "" "" "AIRE(NM_000383.4):c.1303G>A (p.G435R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693062" "0" "30" "21" "45713737" "45713737" "subst" "0.000176186" "02326" "AIRE_000516" "g.45713737C>T" "" "" "" "AIRE(NM_000383.2):c.1344C>T (p.H448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727934" "0" "50" "21" "45706476" "45706476" "subst" "4.88846E-5" "01943" "AIRE_000558" "g.45706476C>G" "" "" "" "AIRE(NM_000383.2):c.169C>G (p.Q57E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727935" "0" "30" "21" "45707010" "45707010" "subst" "7.07008E-5" "01943" "AIRE_000559" "g.45707010A>G" "" "" "" "AIRE(NM_000383.2):c.457A>G (p.S153G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727936" "0" "30" "21" "45712980" "45712980" "subst" "6.78858E-5" "01943" "AIRE_000560" "g.45712980G>A" "" "" "" "AIRE(NM_000383.2):c.1200G>A (p.P400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727937" "0" "30" "21" "45714305" "45714305" "subst" "1.5683E-5" "01943" "AIRE_000561" "g.45714305C>T" "" "" "" "AIRE(NM_000383.2):c.1422C>T (p.S474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809410" "0" "30" "21" "45707384" "45707384" "del" "0" "02326" "AIRE_000562" "g.45707384del" "" "" "" "AIRE(NM_000383.2):c.464-16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809411" "0" "30" "21" "45713653" "45713653" "subst" "0.000305758" "02326" "AIRE_000563" "g.45713653G>A" "" "" "" "AIRE(NM_000383.2):c.1279-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809412" "0" "30" "21" "45713674" "45713674" "subst" "0" "02326" "AIRE_000564" "g.45713674C>T" "" "" "" "AIRE(NM_000383.2):c.1281C>T (p.N427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000813338" "21" "90" "21" "45711065" "45711077" "del" "0" "00006" "AIRE_000079" "g.45711065_45711077del" "" "{PMID:Podkrajsek 2008:18682433}" "" "967_979del13" "" "Germline" "yes" "" "0" "" "" "g.44291182_44291194del" "" "pathogenic (recessive)" "" "0000813339" "2" "90" "21" "45705951" "45705951" "subst" "0" "00006" "AIRE_000010" "g.45705951C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "" "Germline" "" "" "0" "" "" "g.44286068C>T" "" "pathogenic (recessive)" "" "0000813341" "2" "90" "21" "45709656" "45709656" "subst" "0.000769489" "00006" "AIRE_000059" "g.45709656C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000813342" "0" "90" "21" "45709656" "45709656" "subst" "0.000769489" "00006" "AIRE_000059" "g.45709656C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000813343" "21" "10" "21" "45708277" "45708277" "subst" "0.212925" "00006" "AIRE_000505" "g.45708277C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813344" "0" "30" "21" "45710052" "45710052" "subst" "0" "00006" "AIRE_000565" "g.45710052G>A" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000813345" "0" "30" "21" "45711099" "45711099" "subst" "0" "00006" "AIRE_000566" "g.45711099C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "995+6G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0000813346" "21" "30" "21" "45712977" "45712977" "subst" "0.349385" "00006" "AIRE_000514" "g.45712977T>C" "" "{PMID:Podkrajsek 2008:18682433}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813347" "3" "90" "21" "45709656" "45709656" "subst" "0.000769489" "00006" "AIRE_000059" "g.45709656C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "-" "" "Germline" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic (recessive)" "" "0000813348" "3" "90" "21" "45709656" "45709656" "subst" "0.000769489" "00006" "AIRE_000059" "g.45709656C>T" "" "{PMID:Podkrajsek 2008:18682433}" "" "-" "" "Germline" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic (recessive)" "" "0000855975" "0" "90" "21" "45709656" "45709656" "subst" "0.000769489" "01943" "AIRE_000059" "g.45709656C>T" "" "" "" "AIRE(NM_000383.2):c.769C>T (p.R257*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855976" "0" "30" "21" "45709854" "45709854" "subst" "0.000724429" "02327" "AIRE_000546" "g.45709854G>A" "" "" "" "AIRE(NM_000383.2):c.799-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855977" "0" "50" "21" "45713715" "45713715" "subst" "0.00140148" "02329" "AIRE_000107" "g.45713715C>T" "" "" "" "AIRE(NM_000383.2):c.1322C>T (p.T441M), AIRE(NM_000383.3):c.1322C>T (p.(Thr441Met)), AIRE(NM_000383.4):c.1322C>T (p.T441M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855978" "0" "30" "21" "45714294" "45714294" "subst" "0.00931112" "02327" "AIRE_000116" "g.45714294C>T" "" "" "" "AIRE(NM_000383.2):c.1411C>T (p.R471C), AIRE(NM_000383.3):c.1411C>T (p.(Arg471Cys)), AIRE(NM_000383.4):c.1411C>T (p.R471C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866647" "0" "90" "21" "45706567" "45706567" "del" "0" "01943" "AIRE_000567" "g.45706567del" "" "" "" "AIRE(NM_000383.2):c.260delT (p.L87Rfs*60)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000866648" "0" "50" "21" "45707421" "45707421" "subst" "0.000119788" "01943" "AIRE_000041" "g.45707421C>T" "" "" "" "AIRE(NM_000383.2):c.485C>T (p.P162L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866649" "0" "30" "21" "45714301" "45714301" "subst" "0" "01943" "AIRE_000568" "g.45714301G>C" "" "" "" "AIRE(NM_000383.2):c.1418G>C (p.R473T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866650" "0" "30" "21" "45714341" "45714341" "subst" "0" "01943" "AIRE_000569" "g.45714341G>A" "" "" "" "AIRE(NM_000383.2):c.1458G>A (p.G486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881238" "0" "70" "21" "45711014" "45711014" "subst" "4.08961E-6" "02300" "AIRE_000570" "g.45711014G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP3, PP4" "Germline/De novo (untested)" "" "rs754932526" "0" "" "" "g.44291131G>A" "" "likely pathogenic" "ACMG" "0000895499" "0" "30" "21" "45705955" "45705955" "subst" "0" "02326" "AIRE_000571" "g.45705955G>T" "" "" "" "AIRE(NM_000383.2):c.66G>T (p.V22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895500" "0" "30" "21" "45706907" "45706907" "subst" "0.000148293" "02326" "AIRE_000530" "g.45706907C>G" "" "" "" "AIRE(NM_000383.2):c.354C>G (p.V118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895501" "0" "30" "21" "45708356" "45708356" "subst" "0.000548531" "02326" "AIRE_000572" "g.45708356G>A" "" "" "" "AIRE(NM_000383.2):c.652+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895502" "0" "30" "21" "45709542" "45709542" "subst" "4.48317E-5" "02326" "AIRE_000053" "g.45709542G>A" "" "" "" "AIRE(NM_000383.2):c.655G>A (p.G219S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895503" "0" "10" "21" "45712867" "45712867" "subst" "0.00369503" "02326" "AIRE_000573" "g.45712867G>C" "" "" "" "AIRE(NM_000383.2):c.1096-9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000895504" "0" "30" "21" "45713715" "45713715" "subst" "0.00140148" "02326" "AIRE_000107" "g.45713715C>T" "" "" "" "AIRE(NM_000383.2):c.1322C>T (p.T441M), AIRE(NM_000383.3):c.1322C>T (p.(Thr441Met)), AIRE(NM_000383.4):c.1322C>T (p.T441M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895505" "0" "30" "21" "45713716" "45713716" "subst" "0.000145287" "02326" "AIRE_000574" "g.45713716G>A" "" "" "" "AIRE(NM_000383.2):c.1323G>A (p.T441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895506" "0" "30" "21" "45714287" "45714287" "subst" "0.0020713" "02326" "AIRE_000517" "g.45714287G>A" "" "" "" "AIRE(NM_000383.2):c.1404G>A (p.T468=), AIRE(NM_000383.4):c.1404G>A (p.(Thr468=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915462" "0" "50" "21" "45711080" "45711080" "subst" "0.000183787" "02325" "AIRE_000082" "g.45711080C>T" "" "" "" "AIRE(NM_000383.4):c.982C>T (p.R328W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927086" "0" "30" "21" "45708284" "45708284" "subst" "0.00118054" "02326" "AIRE_000050" "g.45708284G>A" "" "" "" "AIRE(NM_000383.2):c.595G>A (p.V199I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927087" "0" "30" "21" "45711010" "45711010" "subst" "8.58138E-5" "02326" "AIRE_000575" "g.45711010C>T" "" "" "" "AIRE(NM_000383.2):c.912C>T (p.D304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927088" "0" "30" "21" "45712272" "45712272" "subst" "0.000307663" "02326" "AIRE_000576" "g.45712272C>T" "" "" "" "AIRE(NM_000383.2):c.1083C>T (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927089" "0" "30" "21" "45712979" "45712979" "subst" "0.000604945" "02326" "AIRE_000096" "g.45712979C>T" "" "" "" "AIRE(NM_000383.2):c.1199C>T (p.P400L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927090" "0" "30" "21" "45713803" "45713803" "subst" "0.000760532" "02326" "AIRE_000577" "g.45713803C>T" "" "" "" "AIRE(NM_000383.2):c.1400+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927091" "0" "30" "21" "45713809" "45713809" "subst" "3.05578E-5" "02326" "AIRE_000578" "g.45713809C>T" "" "" "" "AIRE(NM_000383.2):c.1400+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951512" "0" "30" "21" "45706037" "45706037" "del" "0" "02326" "AIRE_000579" "g.45706037del" "" "" "" "AIRE(NM_000383.2):c.132+16delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951513" "0" "30" "21" "45709676" "45709676" "subst" "0.00149604" "02326" "AIRE_000545" "g.45709676C>T" "" "" "" "AIRE(NM_000383.2):c.789C>T (p.G263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951514" "0" "30" "21" "45714294" "45714294" "subst" "0.00931112" "02325" "AIRE_000116" "g.45714294C>T" "" "" "" "AIRE(NM_000383.2):c.1411C>T (p.R471C), AIRE(NM_000383.3):c.1411C>T (p.(Arg471Cys)), AIRE(NM_000383.4):c.1411C>T (p.R471C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000959003" "0" "90" "21" "45709656" "45709656" "subst" "0.000769489" "00006" "AIRE_000059" "g.45709656C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.44289773C>T" "" "pathogenic (recessive)" "ACMG" "0000970317" "0" "30" "21" "45716336" "45716336" "subst" "0.0022243" "02327" "AIRE_000519" "g.45716336C>T" "" "" "" "AIRE(NM_000383.2):c.1566+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984005" "0" "50" "21" "45706011" "45706011" "subst" "0" "01804" "AIRE_000580" "g.45706011A>G" "" "" "" "AIRE(NM_000383.4):c.122A>G (p.(Asp41Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984006" "0" "50" "21" "45706939" "45706939" "subst" "0" "01804" "AIRE_000581" "g.45706939C>A" "" "" "" "AIRE(NM_000383.4):c.386C>A (p.(Pro129His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984007" "0" "90" "21" "45711065" "45711077" "del" "0" "01804" "AIRE_000079" "g.45711065_45711077del" "" "" "" "AIRE(NM_000383.2):c.967_979delCTGTCCCCTCCGC (p.L323Sfs*51), AIRE(NM_000383.3):c.967_979delCTGTCCCCTCCGC (p.(Leu323fs)), AIRE(NM_000383.4):c.967_979..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984008" "0" "50" "21" "45713699" "45713699" "subst" "1.70838E-5" "01804" "AIRE_000582" "g.45713699G>C" "" "" "" "AIRE(NM_000383.4):c.1306G>C (p.(Val436Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984009" "0" "50" "21" "45713741" "45713741" "subst" "3.01254E-5" "01804" "AIRE_000583" "g.45713741G>A" "" "" "" "AIRE(NM_000383.4):c.1348G>A (p.(Ala450Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005774" "0" "30" "21" "45705899" "45705899" "subst" "0" "01804" "AIRE_000584" "g.45705899G>A" "" "" "" "AIRE(NM_000383.3):c.10G>A (p.(Asp4Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005775" "0" "50" "21" "45706900" "45706900" "subst" "4.54185E-5" "01804" "AIRE_000034" "g.45706900C>T" "" "" "" "AIRE(NM_000383.3):c.347C>T (p.(Pro116Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005776" "0" "50" "21" "45706905" "45706905" "subst" "3.29783E-5" "01804" "AIRE_000585" "g.45706905G>A" "" "" "" "AIRE(NM_000383.3):c.352G>A (p.(Val118Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005777" "0" "30" "21" "45708305" "45708305" "subst" "0" "01804" "AIRE_000586" "g.45708305G>C" "" "" "" "AIRE(NM_000383.3):c.616G>C (p.(Val206Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005778" "0" "30" "21" "45709635" "45709635" "subst" "3.27281E-5" "01804" "AIRE_000057" "g.45709635A>T" "" "" "" "AIRE(NM_000383.3):c.748A>T (p.(Ser250Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005779" "0" "50" "21" "45709940" "45709940" "del" "0" "01804" "AIRE_000524" "g.45709940del" "" "" "" "AIRE(NM_000383.3):c.868delC (p.(Gln290fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005780" "0" "30" "21" "45710999" "45710999" "subst" "0.00106422" "01804" "AIRE_000066" "g.45710999G>A" "" "" "" "AIRE(NM_000383.3):c.901G>A (p.(Val301Met)), AIRE(NM_000383.4):c.901G>A (p.V301M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005781" "0" "30" "21" "45713024" "45713024" "subst" "0.000212299" "01804" "AIRE_000100" "g.45713024A>G" "" "" "" "AIRE(NM_000383.3):c.1244A>G (p.(His415Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005782" "0" "30" "21" "45713715" "45713715" "subst" "0.00140148" "01804" "AIRE_000107" "g.45713715C>T" "" "" "" "AIRE(NM_000383.2):c.1322C>T (p.T441M), AIRE(NM_000383.3):c.1322C>T (p.(Thr441Met)), AIRE(NM_000383.4):c.1322C>T (p.T441M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005783" "0" "10" "21" "45714287" "45714287" "subst" "0.0020713" "02327" "AIRE_000517" "g.45714287G>A" "" "" "" "AIRE(NM_000383.2):c.1404G>A (p.T468=), AIRE(NM_000383.4):c.1404G>A (p.(Thr468=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001005784" "0" "50" "21" "45714333" "45714333" "subst" "9.97208E-5" "01804" "AIRE_000117" "g.45714333G>A" "" "" "" "AIRE(NM_000383.3):c.1450G>A (p.(Val484Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015897" "0" "10" "21" "45705988" "45705988" "subst" "0.0898712" "02327" "AIRE_000501" "g.45705988T>C" "" "" "" "AIRE(NM_000383.2):c.99T>C (p.A33=), AIRE(NM_000383.4):c.99T>C (p.A33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015898" "0" "90" "21" "45706968" "45706968" "subst" "2.09219E-5" "02325" "AIRE_000038" "g.45706968C>T" "" "" "" "AIRE(NM_000383.4):c.415C>T (p.R139*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015899" "0" "10" "21" "45712983" "45712983" "subst" "0.0115106" "02327" "AIRE_000587" "g.45712983T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001027345" "0" "30" "21" "45708355" "45708355" "subst" "0.012932" "02327" "AIRE_000506" "g.45708355C>T" "" "" "" "AIRE(NM_000383.2):c.652+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043609" "0" "50" "21" "45706022" "45706022" "subst" "7.4129E-6" "01804" "AIRE_000123" "g.45706022G>C" "" "" "" "AIRE(NM_000383.4):c.132+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043610" "0" "50" "21" "45706026" "45706026" "del" "0" "01804" "AIRE_000588" "g.45706026del" "" "" "" "AIRE(NM_000383.4):c.132+5del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043611" "0" "30" "21" "45707481" "45707481" "subst" "0" "01804" "AIRE_000589" "g.45707481G>A" "" "" "" "AIRE(NM_000383.4):c.538+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043612" "0" "50" "21" "45711096" "45711096" "subst" "4.33272E-6" "01804" "AIRE_000590" "g.45711096G>T" "" "" "" "AIRE(NM_000383.4):c.995+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043613" "0" "50" "21" "45711098" "45711098" "subst" "0" "01804" "AIRE_000130" "g.45711098G>T" "" "" "" "AIRE(NM_000383.4):c.995+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043614" "0" "50" "21" "45713792" "45713792" "subst" "3.02792E-5" "01804" "AIRE_000591" "g.45713792G>A" "" "" "" "AIRE(NM_000383.4):c.1399G>A (p.(Gly467Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043615" "0" "30" "21" "45714287" "45714287" "subst" "0.0020713" "01804" "AIRE_000517" "g.45714287G>A" "" "" "" "AIRE(NM_000383.2):c.1404G>A (p.T468=), AIRE(NM_000383.4):c.1404G>A (p.(Thr468=))" "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 AIRE ## Count = 464 "{{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}}" "0000259007" "00002286" "10" "1197" "0" "1197" "0" "c.1197T>C" "r.(?)" "p.(Ala399=)" "" "0000259008" "00002286" "10" "1578" "0" "1578" "0" "c.1578T>C" "r.(?)" "p.(Asp526=)" "" "0000259009" "00002286" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Ser196=)" "" "0000259010" "00002286" "10" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Gly227=)" "" "0000260700" "00002286" "10" "1095" "6" "1095" "6" "c.1095+6G>A" "r.(=)" "p.(=)" "" "0000260701" "00002286" "30" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Leu)" "" "0000260702" "00002286" "10" "1197" "0" "1197" "0" "c.1197T>C" "r.(?)" "p.(Ala399=)" "" "0000260703" "00002286" "10" "1279" "-18" "1279" "-18" "c.1279-18C>T" "r.(=)" "p.(=)" "" "0000260704" "00002286" "10" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "" "0000260705" "00002286" "30" "1566" "8" "1566" "8" "c.1566+8C>T" "r.(=)" "p.(=)" "" "0000260706" "00002286" "10" "1578" "0" "1578" "0" "c.1578T>C" "r.(?)" "p.(Asp526=)" "" "0000260707" "00002286" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Leu177=)" "" "0000260708" "00002286" "10" "548" "0" "548" "0" "c.548C>A" "r.(?)" "p.(Thr183Asn)" "" "0000260709" "00002286" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Ser196=)" "" "0000260710" "00002286" "30" "652" "14" "652" "14" "c.652+14C>T" "r.(=)" "p.(=)" "" "0000260711" "00002286" "10" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Gly227=)" "" "0000260712" "00002286" "30" "755" "0" "755" "0" "c.755C>T" "r.(?)" "p.(Pro252Leu)" "" "0000260713" "00002286" "30" "834" "0" "834" "0" "c.834C>G" "r.(?)" "p.(Ser278Arg)" "" "0000260714" "00002286" "10" "99" "0" "99" "0" "c.99T>C" "r.(?)" "p.(Ala33=)" "" "0000262154" "00002286" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(His448=)" "" "0000262155" "00002286" "10" "1404" "0" "1404" "0" "c.1404G>A" "r.(?)" "p.(Thr468=)" "" "0000262156" "00002286" "30" "1566" "8" "1566" "8" "c.1566+8C>T" "r.(=)" "p.(=)" "" "0000262157" "00002286" "30" "1567" "-5" "1567" "-5" "c.1567-5C>T" "r.spl?" "p.?" "" "0000262158" "00002286" "30" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Asp76Asn)" "" "0000262159" "00002286" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Gly218=)" "" "0000262160" "00002286" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Lys235=)" "" "0000338127" "00002286" "10" "1095" "6" "1095" "6" "c.1095+6G>A" "r.(=)" "p.(=)" "" "0000340109" "00002286" "10" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Ser196=)" "" "0000340110" "00002286" "10" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(Gly227=)" "" "0000340111" "00002286" "30" "1065" "0" "1065" "0" "c.1065C>T" "r.(?)" "p.(Pro355=)" "" "0000340112" "00002286" "10" "1197" "0" "1197" "0" "c.1197T>C" "r.(?)" "p.(Ala399=)" "" "0000340113" "00002286" "10" "1578" "0" "1578" "0" "c.1578T>C" "r.(?)" "p.(Asp526=)" "" "0000340922" "00002286" "30" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(Pro492=)" "" "0000342441" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000345974" "00002286" "90" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Gly305Ser)" "" "0000348900" "00002286" "10" "834" "0" "834" "0" "c.834C>G" "r.(?)" "p.(Ser278Arg)" "" "0000349314" "00002286" "70" "47" "0" "47" "0" "c.47C>G" "r.(?)" "p.(Thr16Arg)" "" "0000570761" "00002286" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Ala21=)" "" "0000570762" "00002286" "10" "99" "0" "99" "0" "c.99T>C" "r.(?)" "p.(Ala33=)" "" "0000570763" "00002286" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Pro116=)" "" "0000570764" "00002286" "30" "354" "0" "354" "0" "c.354C>G" "r.(?)" "p.(Val118=)" "" "0000570765" "00002286" "30" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174His)" "" "0000570766" "00002286" "10" "548" "0" "548" "0" "c.548C>A" "r.(?)" "p.(Thr183Asn)" "" "0000570767" "00002286" "30" "548" "0" "548" "0" "c.548C>A" "r.(?)" "p.(Thr183Asn)" "" "0000570768" "00002286" "30" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "" "0000570769" "00002286" "30" "600" "0" "600" "0" "c.600G>A" "r.(?)" "p.(Pro200=)" "" "0000570770" "00002286" "30" "756" "0" "756" "0" "c.756G>A" "r.(?)" "p.(Pro252=)" "" "0000570771" "00002286" "10" "798" "82" "798" "82" "c.798+82C>G" "r.(=)" "p.(=)" "" "0000570772" "00002286" "30" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Ala281Val)" "" "0000570773" "00002286" "50" "927" "0" "927" "0" "c.927C>G" "r.(?)" "p.(Ile309Met)" "" "0000570775" "00002286" "30" "1055" "0" "1055" "0" "c.1055C>A" "r.(?)" "p.(Ala352Glu)" "" "0000570777" "00002286" "30" "1096" "-3" "1096" "-3" "c.1096-3C>T" "r.spl?" "p.?" "" "0000570778" "00002286" "30" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ser372Leu)" "" "0000570779" "00002286" "30" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Gly379Ser)" "" "0000570780" "00002286" "30" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Pro405=)" "" "0000570781" "00002286" "30" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "" "0000570782" "00002286" "50" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "" "0000570783" "00002286" "30" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "" "0000570784" "00002286" "30" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(Pro492=)" "" "0000570785" "00002286" "30" "1503" "9" "1503" "9" "c.1503+9C>T" "r.(=)" "p.(=)" "" "0000570786" "00002286" "30" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Asp503Asn)" "" "0000570788" "00002286" "10" "1567" "-5" "1567" "-5" "c.1567-5C>T" "r.spl?" "p.?" "" "0000570789" "00002286" "30" "1567" "-5" "1567" "-5" "c.1567-5C>T" "r.spl?" "p.?" "" "0000580419" "00002286" "95" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1" "0000580420" "00002286" "95" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "1" "0000580421" "00002286" "95" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1" "0000580422" "00002286" "95" "21" "0" "43" "0" "c.21_43dup" "r.(?)" "p.(Arg15Hisfs*5)" "1" "0000580423" "00002286" "95" "22" "0" "22" "0" "c.22C>T" "r.(?)" "p.(Arg8Cys)" "1" "0000580424" "00002286" "95" "43" "0" "43" "0" "c.43C>T" "r.(?)" "p.(Arg15Cys)" "1" "0000580425" "00002286" "95" "44" "0" "44" "0" "c.44G>T" "r.(?)" "p.(Arg15Leu)" "1" "0000580426" "00002286" "95" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Thr16Met)" "1" "0000580427" "00002286" "95" "55" "0" "55" "0" "c.55G>A" "r.(?)" "p.(Ala19Thr)" "1" "0000580428" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "6" "0000580429" "00002286" "95" "64" "0" "69" "0" "c.64_69del" "r.(?)" "p.(Val22_Asp23del)" "1" "0000580430" "00002286" "90" "132" "-57" "1567" "-67" "c.(?_132-57)_(1567-67_?)del" "r.0?" "p.0?" "_1i_13i_" "0000580431" "00002286" "95" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Leu28Pro)" "1" "0000580432" "00002286" "95" "86" "0" "86" "0" "c.86T>C" "r.(?)" "p.(Leu29Pro)" "1" "0000580433" "00002286" "95" "93" "0" "94" "0" "c.93_94insT" "r.(?)" "p.(Leu32Serfs*3)" "1" "0000580434" "00002286" "95" "132" "1" "132" "1" "c.132+1G>C" "r.spl" "p.?" "1i" "0000580435" "00002286" "95" "132" "1" "132" "1" "c.[132+1G>C;132+5del]" "r.spl?" "p.?" "1i" "0000580436" "00002286" "95" "132" "0" "538" "0" "c.132_538del" "r.?" "p.?" "1_4" "0000580437" "00002286" "35" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.Ala21 (silent)" "1" "0000580438" "00002286" "95" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Thr16Met)" "1" "0000580440" "00002286" "95" "83" "0" "83" "0" "c.83T>C" "r.(?)" "p.(Leu28Pro)" "1" "0000580441" "00002286" "35" "-528" "0" "-528" "0" "c.-528G>A" "r.?" "p.=" "1" "0000580442" "00002286" "95" "21" "0" "43" "0" "c.21_43dup" "r.(?)" "p.(Arg15Hisfs*5)" "1" "0000580443" "00002286" "35" "-103" "0" "-103" "0" "c.-103C>T" "r.(?)" "p.=" "1" "0000580444" "00002286" "95" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ala21Val)" "1" "0000580445" "00002286" "95" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Thr16Met)" "1" "0000580446" "00002286" "95" "132" "1" "132" "1" "c.[132+1G>C;132+5del]" "r.spl?" "p.?" "1i" "0000580447" "00002286" "95" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Thr16Met)" "1" "0000580448" "00002286" "95" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Thr16Met)" "1" "0000580450" "00002286" "95" "47" "0" "47" "0" "c.47C>T" "r.(?)" "p.(Thr16Met)" "1" "0000580451" "00002286" "95" "132" "1" "132" "1" "c.[132+1G>C;132+5del]" "r.spl?" "p.?" "1i" "0000580452" "00002286" "95" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ala21Val)" "1" "0000580453" "00002286" "95" "21" "0" "43" "0" "c.21_43dup" "r.(?)" "p.(Arg15Hisfs*5)" "1" "0000580454" "00002286" "95" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ala21Val)" "1" "0000580455" "00002286" "95" "21" "0" "43" "0" "c.21_43dup" "r.(?)" "p.(Arg15Hisfs*5)" "1" "0000580456" "00002286" "95" "191" "0" "226" "0" "c.191_226del" "r.(?)" "p.(Ser64_Asp76delinsTyr)" "2" "0000580457" "00002286" "95" "205" "0" "208" "0" "c.205_208dup" "r.(?)" "p.(Asp70Alafs*148)" "2" "0000580458" "00002286" "55" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Asp76Asn)" "2" "0000580459" "00002286" "95" "230" "0" "230" "0" "c.230T>C" "r.(?)" "p.(Phe77Ser)" "2" "0000580460" "00002286" "95" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Trp78Arg)" "2" "0000580461" "00002286" "95" "232" "0" "232" "0" "c.232T>A" "r.(?)" "p.(Trp78Arg)" "2" "0000580462" "00002286" "95" "238" "0" "238" "0" "c.238G>T" "r.(?)" "p.(Val80Leu)" "2" "0000580463" "00002286" "95" "239" "0" "239" "0" "c.239T>G" "r.(?)" "p.(Val80Gly)" "2" "0000580464" "00002286" "95" "247" "0" "247" "0" "c.247A>G" "r.(?)" "p.(Lys83Glu)" "2" "0000580465" "00002286" "95" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Tyr85Cys)" "2" "0000580466" "00002286" "95" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "2" "0000580467" "00002286" "95" "262" "0" "262" "0" "c.262G>T" "r.(?)" "p.(Glu88*)" "2" "0000580468" "00002286" "95" "269" "0" "269" "0" "c.269A>G" "r.(?)" "p.(Tyr90Cys)" "2" "0000580469" "00002286" "95" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Arg92Trp)" "2" "0000580470" "00002286" "95" "278" "0" "278" "0" "c.278T>G" "r.(?)" "p.(Leu93Arg)" "2" "0000580471" "00002286" "95" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.(Leu97Pro)" "2" "0000580472" "00002286" "95" "306" "0" "306" "0" "c.306del" "r.(?)" "p.(Asp103Metfs*44)" "2" "0000580473" "00002286" "95" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Trp78Arg)" "2" "0000580474" "00002286" "95" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Trp78Arg)" "2" "0000580475" "00002286" "95" "260" "0" "260" "0" "c.260T>C" "r.(?)" "p.(Leu87Pro)" "2" "0000580476" "00002286" "35" "307" "61" "307" "61" "c.307+61C>T" "r.(=)" "p.=" "2i" "0000580478" "00002286" "95" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Trp78Arg)" "2" "0000580479" "00002286" "95" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Trp78Arg)" "2" "0000580480" "00002286" "95" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.(Leu97Pro)" "2" "0000580481" "00002286" "95" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Trp78Arg)" "2" "0000580482" "00002286" "95" "254" "0" "254" "0" "c.254A>G" "r.(?)" "p.(Tyr85Cys)" "2" "0000580483" "00002286" "95" "205" "0" "208" "0" "c.205_208dup" "r.(?)" "p.(Asp70Alafs*148)" "2" "0000580484" "00002286" "95" "232" "0" "232" "0" "c.232T>C" "r.(?)" "p.(Trp78Arg)" "2" "0000580485" "00002286" "55" "342" "0" "342" "0" "c.342G>T" "r.(?)" "p.(Lys114Asn)" "3" "0000580486" "00002286" "55" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Pro116Leu)" "3" "0000580487" "00002286" "95" "352" "0" "352" "0" "c.352del" "r.(?)" "p.(Val118Serfs*29)" "3" "0000580488" "00002286" "95" "402" "0" "402" "0" "c.402del" "r.(?)" "p.(Ser135Glnfs*12)" "3" "0000580489" "00002286" "55" "415" "0" "415" "0" "c.415C>G" "r.(?)" "p.(Arg139Gly)" "3" "0000580490" "00002286" "95" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "3" "0000580491" "00002286" "55" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "3" "0000580492" "00002286" "95" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Gly155Ser)" "3" "0000580493" "00002286" "95" "463" "2" "463" "2" "c.463+2T>C" "r.(spl?)" "p.?" "3i" "0000580494" "00002286" "35" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.=" "3" "0000580495" "00002286" "75" "462" "0" "462" "0" "c.462A>T" "r.spl?" "p.(?)" "3" "0000580496" "00002286" "95" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "3" "0000580497" "00002286" "95" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "3" "0000580498" "00002286" "95" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "3" "0000580499" "00002286" "95" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "3" "0000580500" "00002286" "95" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "3" "0000580501" "00002286" "95" "463" "2" "463" "2" "c.463+2T>C" "r.(spl?)" "p.?" "3i" "0000580502" "00002286" "95" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "3" "0000580503" "00002286" "55" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Pro162Leu)" "4" "0000580504" "00002286" "55" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Pro166Leu)" "4" "0000580505" "00002286" "95" "508" "0" "509" "0" "c.508_509ins13" "r.?" "p.(Ala170...fs*51)" "4" "0000580506" "00002286" "95" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Gln173*)" "4" "0000580507" "00002286" "55" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Arg174His)" "4" "0000580508" "00002286" "35" "538" "42" "538" "42" "c.538+42A>G" "r.(=)" "p.=" "4i" "0000580509" "00002286" "35" "538" "49" "538" "49" "c.538+49A>G" "r.(=)" "p.=" "4i" "0000580510" "00002286" "35" "539" "-46" "539" "-46" "c.539-46A>G" "r.(=)" "p.=" "4i" "0000580511" "00002286" "95" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Gln173*)" "4" "0000580512" "00002286" "95" "540" "0" "540" "0" "c.540del" "r.(?)" "p.(Ile181Phefs*197)" "5" "0000580513" "00002286" "55" "548" "0" "548" "0" "c.548C>A" "r.(?)" "p.(Thr183Asn)" "5" "0000580514" "00002286" "55" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ser187Leu)" "5" "0000580515" "00002286" "55" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Gly197Arg)" "5" "0000580516" "00002286" "55" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Ile)" "5" "0000580517" "00002286" "55" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Pro200Leu)" "5" "0000580518" "00002286" "95" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "5" "0000580519" "00002286" "95" "653" "-6" "653" "-4" "c.653-6_653-4del" "r.(spl?)" "p.?" "5i" "0000580520" "00002286" "35" "615" "0" "615" "0" "c.615C>T" "r.(?)" "p.=" "5" "0000580521" "00002286" "95" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "5" "0000580522" "00002286" "35" "652" "44" "652" "44" "c.652+44G>A" "r.(=)" "p.=" "5i" "0000580523" "00002286" "95" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "5" "0000580524" "00002286" "95" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "5" "0000580525" "00002286" "95" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "5" "0000580526" "00002286" "95" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "5" "0000580527" "00002286" "95" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203*)" "5" "0000580528" "00002286" "95" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "6" "0000580529" "00002286" "55" "655" "0" "655" "0" "c.655G>A" "r.(?)" 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"p.(Pro400Leu)" "10" "0000580669" "00002286" "55" "1231" "0" "1232" "0" "c.1231_1232insA" "r.(?)" "p.(Ser411Tyrfs*13)" "10" "0000580670" "00002286" "95" "1236" "0" "1239" "0" "c.1236_1239dup" "r.(?)" "p.(Leu414Glyfs*11)" "10" "0000580671" "00002286" "95" "1242" "0" "1243" "0" "c.1242_1243insA" "r.(?)" "p.(His415Thrfs*9)" "10" "0000580672" "00002286" "55" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(His415Arg)" "10" "0000580673" "00002286" "95" "1249" "0" "1249" "0" "c.1249dup" "r.(?)" "p.(Leu417Profs*7)" "10" "0000580674" "00002286" "95" "1249" "0" "1249" "0" "c.1249del" "r.(?)" "p.(Leu417Tyrfs*63)" "10" "0000580675" "00002286" "95" "1265" "0" "1265" "0" "c.1265del" "r.(?)" "p.(Pro422Leufs*58)" "10" "0000580676" "00002286" "95" "1265" "0" "1265" "0" "c.1265del" "r.(?)" "p.(Pro422Leufs*58)" "10" "0000580677" "00002286" "95" "1163" "0" "1164" "0" "c.1163_1164insA" "r.(?)" "p.(Met388Ilefs*36)" "10" "0000580678" "00002286" "95" "1249" "0" "1249" "0" "c.1249dup" "r.(?)" "p.(Leu417Profs*7)" "10" "0000580679" "00002286" "95" "1249" "0" "1249" "0" "c.1249dup" "r.(?)" "p.(Leu417Profs*7)" "10" "0000580680" "00002286" "95" "1163" "0" "1164" "0" "c.1163_1164insA" "r.(?)" "p.(Met388Ilefs*36)" "10" "0000580681" "00002286" "95" "1242" "0" "1243" "0" "c.1242_1243insA" "r.(?)" "p.(His415Thrfs*9)" "10" "0000580682" "00002286" "95" "1193" "0" "1193" "0" "c.1193del" "r.(?)" "p.(Pro398Argfs*82)" "10" "0000580683" "00002286" "95" "1193" "0" "1193" "0" "c.1193del" "r.(?)" "p.(Pro398Argfs*82)" "10" "0000580684" "00002286" "95" "1189" "0" "1189" "0" "c.1189del" "r.(?)" "p.(Leu397Cysfs*83)" "10" "0000580685" "00002286" "95" "1189" "0" "1189" "0" "c.1189del" "r.(?)" "p.(Leu397Cysfs*83)" "10" "0000580686" "00002286" "95" "1242" "0" "1243" "0" "c.1242_1243insA" "r.(?)" "p.(His415Thrfs*9)" "10" "0000580687" "00002286" "35" "1278" "5" "1278" "5" "c.1278+5G>A" "r.(spl?)" "p.=" "10i" "0000580688" "00002286" "95" "1163" "0" "1164" "0" "c.1163_1164insA" "r.(?)" "p.(Met388Ilefs*36)" "10" "0000580689" "00002286" "95" "1249" "0" "1249" "0" "c.1249dup" "r.(?)" "p.(Leu417Profs*7)" "10" "0000580690" "00002286" "95" "1242" "0" "1243" "0" "c.1242_1243insA" "r.(?)" "p.(His415Thrfs*9)" "10" "0000580691" "00002286" "95" "1163" "0" "1164" "0" "c.1163_1164insA" "r.(?)" "p.(Met388Ilefs*36)" "10" "0000580692" "00002286" "95" "1193" "0" "1193" "0" "c.1193del" "r.(?)" "p.(Pro398Argfs*82)" "10" "0000580694" "00002286" "95" "1295" "0" "1296" "0" "c.1295_1296insAC" "r.(?)" "p.(Cys434Valfs*47)" "11" "0000580695" "00002286" "95" "1296" "0" "1296" "0" "c.1296delinsAC" "r.(?)" "p.(Arg433Profs*71)" "11" "0000580696" "00002286" "95" "1314" "0" "1326" "0" "c.1314_1326delinsGT" "r.(?)" "p.(Asp439Cysfs*61)" "11" "0000580697" "00002286" "55" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "11" "0000580698" "00002286" "95" "1336" "0" "1336" "0" "c.1336T>G" "r.(?)" "p.(Cys446Gly)" "11" "0000580699" "00002286" "95" "1344" "0" "1344" "0" "c.1344del" "r.(?)" "p.(Cys449Alafs*31)" "11" "0000580700" "00002286" "95" "1344" "0" "1344" "0" "c.1344delinsTT" "r.(?)" "p.(Cys449Leufs*55)" "11" "0000580701" "00002286" "95" "1347" "0" "1347" "0" "c.1347C>A" "r.(?)" "p.(Cys449*)" "11" "0000580702" "00002286" "55" "1351" "0" "1351" "0" "c.1351G>A" "r.(?)" "p.(Ala451Thr)" "11" "0000580703" "00002286" "95" "1370" "0" "1370" "0" "c.1370dup" "r.(?)" "p.(Cys457Trpfs*47)" "11" "0000580704" "00002286" "55" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "11" "0000580705" "00002286" "55" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "11" "0000580706" "00002286" "95" "1400" "1" "1400" "1" "c.1400+1G>A" "r.spl" "p.?" "11i" "0000580708" "00002286" "55" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "11" "0000580709" "00002286" "55" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "12" "0000580710" "00002286" "95" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Val484Met)" "12" "0000580711" "00002286" "95" "1486" "0" "1498" "0" "c.1486_1498del" "r.(?)" "p.(Ala496Profs*21)" "12" "0000580712" "00002286" "55" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "12" "0000580713" "00002286" "55" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "12" "0000580714" "00002286" "55" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "12" "0000580715" "00002286" "55" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "12" "0000580716" "00002286" "55" "1507" "0" "1507" "0" "c.1507G>A" "r.(?)" "p.(Asp503Asn)" "13" "0000580717" "00002286" "95" "1513" "0" "1513" "0" "c.1513del" "r.(?)" "p.(Ala505Profs*16)" "13" "0000580718" "00002286" "95" "1567" "-2" "1567" "-2" "c.1567-2A>G" "r.spl" "p.?" "13i" "0000580719" "00002286" "95" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "14" "0000580720" "00002286" "95" "1638" "0" "1638" "0" "c.1638A>T" "r.(?)" "p.*546Cysext*61" "14" "0000580721" "00002286" "95" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "14" "0000580722" "00002286" "95" "1638" "0" "1638" "0" "c.1638A>T" "r.(?)" "p.*546Cysext*61" "14" "0000580723" "00002286" "95" "1638" "0" "1638" "0" "c.1638A>T" "r.(?)" "p.*546Cysext*61" "14" "0000580724" "00002286" "95" "1616" "0" "1616" "0" "c.1616C>T" "r.(?)" "p.(Pro539Leu)" "14" "0000580725" "00002286" "35" "1854" "0" "1854" "0" "c.*216G>A" "r.(=)" "p.=" "14" "0000618386" "00002286" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Ala21=)" "" "0000618387" "00002286" "90" "489" "0" "489" "0" "c.489del" "r.(?)" "p.(Lys164ArgfsTer214)" "" "0000618388" "00002286" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Gly263=)" "" "0000618389" "00002286" "90" "967" "0" "979" "0" "c.967_979del" "r.(?)" "p.(Leu323SerfsTer51)" "" "0000618390" "00002286" "50" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Val443Met)" "" "0000618391" "00002286" "30" "1476" "0" "1476" "0" "c.1476C>A" "r.(?)" "p.(Pro492=)" "" "0000624225" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000624226" "00002286" "30" "799" "-17" "799" "-17" "c.799-17G>A" "r.(=)" "p.(=)" "" "0000624227" "00002286" "30" "936" "0" "936" "0" "c.936C>T" "r.(?)" "p.(Asp312=)" "" "0000624228" "00002286" "90" "967" "0" "979" "0" "c.967_979del" "r.(?)" "p.(Leu323SerfsTer51)" "" "0000650875" "00002286" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Pro124Leu)" "" "0000650876" "00002286" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Gly155Ser)" "" "0000650877" "00002286" "90" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Gly228Trp)" "" "0000650879" "00002286" "50" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "" "0000650880" "00002286" "30" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "" "0000658840" "00002286" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Ala152Thr)" "" "0000658841" "00002286" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Ala160Val)" "" "0000658842" "00002286" "30" "531" "0" "531" "0" "c.531C>T" "r.(?)" "p.(Leu177=)" "" "0000658843" "00002286" "30" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Lys235=)" "" "0000658844" "00002286" "30" "1065" "0" "1065" "0" "c.1065C>T" "r.(?)" "p.(Pro355=)" "" "0000681734" "00002286" "30" "798" "0" "798" "0" "c.798C>G" "r.(?)" "p.(Pro266=)" "" "0000681735" "00002286" "30" "880" "-18" "880" "-18" "c.880-18G>A" "r.(=)" "p.(=)" "" "0000681736" "00002286" "50" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Met)" "" "0000681737" "00002286" "70" "1095" "2" "1095" "2" "c.1095+2T>C" "r.spl?" "p.?" "" "0000681738" "00002286" "30" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(Pro492=)" "" "0000681739" "00002286" "50" "1563" "0" "1563" "0" "c.1563C>A" "r.(?)" "p.(Ser521Arg)" "" "0000686196" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000693061" "00002286" "50" "1303" "0" "1303" "0" "c.1303G>A" "r.(?)" "p.(Gly435Arg)" "" "0000693062" "00002286" "30" "1344" "0" "1344" "0" "c.1344C>T" "r.(?)" "p.(His448=)" "" "0000727934" "00002286" "50" "169" "0" "169" "0" "c.169C>G" "r.(?)" "p.(Gln57Glu)" "" "0000727935" "00002286" "30" "457" "0" "457" "0" "c.457A>G" "r.(?)" "p.(Ser153Gly)" "" "0000727936" "00002286" "30" "1200" "0" "1200" "0" "c.1200G>A" "r.(?)" "p.(Pro400=)" "" "0000727937" "00002286" "30" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(Ser474=)" "" "0000809410" "00002286" "30" "464" "-16" "464" "-16" "c.464-16del" "r.(=)" "p.(=)" "" "0000809411" "00002286" "30" "1279" "-19" "1279" "-19" "c.1279-19G>A" "r.(=)" "p.(=)" "" "0000809412" "00002286" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Asn427=)" "" "0000813338" "00002286" "90" "967" "0" "979" "0" "c.967_979del" "r.(?)" "p.(Leu323Serfs*51)" "" "0000813339" "00002286" "90" "62" "0" "62" "0" "c.62C>T" "r.(?)" "p.(Ala21Val)" "" "0000813341" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000813342" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "" "0000813343" "00002286" "10" "588" "0" "588" "0" "c.588C>T" "r.(=)" "p.(=)" "" "0000813344" "00002286" "30" "879" "101" "879" "101" "c.879+101G>A" "r.(=)" "p.(=)" "7i" "0000813345" "00002286" "30" "995" "6" "995" "6" "c.995+6C>T" "r.(?)" "p.(=)" "9i" "0000813346" "00002286" "30" "1197" "0" "1197" "0" "c.1197T>C" "r.(?)" "p.(=)" "10" "0000813347" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "6" "0000813348" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257*)" "6" "0000855975" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000855976" "00002286" "30" "799" "-17" "799" "-17" "c.799-17G>A" "r.(=)" "p.(=)" "" "0000855977" "00002286" "50" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "" "0000855978" "00002286" "30" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "" "0000866647" "00002286" "90" "260" "0" "260" "0" "c.260del" "r.(?)" "p.(Leu87Argfs*60)" "" "0000866648" "00002286" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Pro162Leu)" "" "0000866649" "00002286" "30" "1418" "0" "1418" "0" "c.1418G>C" "r.(?)" "p.(Arg473Thr)" "" "0000866650" "00002286" "30" "1458" "0" "1458" "0" "c.1458G>A" "r.(?)" "p.(Gly486=)" "" "0000881238" "00002286" "70" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000895499" "00002286" "30" "66" "0" "66" "0" "c.66G>T" "r.(?)" "p.(Val22=)" "" "0000895500" "00002286" "30" "354" "0" "354" "0" "c.354C>G" "r.(?)" "p.(Val118=)" "" "0000895501" "00002286" "30" "652" "15" "652" "15" "c.652+15G>A" "r.(=)" "p.(=)" "" "0000895502" "00002286" "30" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Gly219Ser)" "" "0000895503" "00002286" "10" "1096" "-9" "1096" "-9" "c.1096-9G>C" "r.(=)" "p.(=)" "" "0000895504" "00002286" "30" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "" "0000895505" "00002286" "30" "1323" "0" "1323" "0" "c.1323G>A" "r.(?)" "p.(Thr441=)" "" "0000895506" "00002286" "30" "1404" "0" "1404" "0" "c.1404G>A" "r.(?)" "p.(Thr468=)" "" "0000915462" "00002286" "50" "982" "0" "982" "0" "c.982C>T" "r.(?)" "p.(Arg328Trp)" "" "0000927086" "00002286" "30" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Ile)" "" "0000927087" "00002286" "30" "912" "0" "912" "0" "c.912C>T" "r.(?)" "p.(Asp304=)" "" "0000927088" "00002286" "30" "1083" "0" "1083" "0" "c.1083C>T" "r.(?)" "p.(Pro361=)" "" "0000927089" "00002286" "30" "1199" "0" "1199" "0" "c.1199C>T" "r.(?)" "p.(Pro400Leu)" "" "0000927090" "00002286" "30" "1400" "10" "1400" "10" "c.1400+10C>T" "r.(=)" "p.(=)" "" "0000927091" "00002286" "30" "1400" "16" "1400" "16" "c.1400+16C>T" "r.(=)" "p.(=)" "" "0000951512" "00002286" "30" "132" "16" "132" "16" "c.132+16del" "r.(=)" "p.(=)" "" "0000951513" "00002286" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Gly263=)" "" "0000951514" "00002286" "30" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Cys)" "" "0000959003" "00002286" "90" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Arg257Ter)" "" "0000970317" "00002286" "30" "1566" "8" "1566" "8" "c.1566+8C>T" "r.(=)" "p.(=)" "" "0000984005" "00002286" "50" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Asp41Gly)" "" "0000984006" "00002286" "50" "386" "0" "386" "0" "c.386C>A" "r.(?)" "p.(Pro129His)" "" "0000984007" "00002286" "90" "967" "0" "979" "0" "c.967_979del" "r.(?)" "p.(Leu323SerfsTer51)" "" "0000984008" "00002286" "50" "1306" "0" "1306" "0" "c.1306G>C" "r.(?)" "p.(Val436Leu)" "" "0000984009" "00002286" "50" "1348" "0" "1348" "0" "c.1348G>A" "r.(?)" "p.(Ala450Thr)" "" "0001005774" "00002286" "30" "10" "0" "10" "0" "c.10G>A" "r.(?)" "p.(Asp4Asn)" "" "0001005775" "00002286" "50" "347" "0" "347" "0" "c.347C>T" "r.(?)" "p.(Pro116Leu)" "" "0001005776" "00002286" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Val118Ile)" "" "0001005777" "00002286" "30" "616" "0" "616" "0" "c.616G>C" "r.(?)" "p.(Val206Leu)" "" "0001005778" "00002286" "30" "748" "0" "748" "0" "c.748A>T" "r.(?)" "p.(Ser250Cys)" "" "0001005779" "00002286" "50" "868" "0" "868" "0" "c.868del" "r.(?)" "p.(Gln290SerfsTer88)" "" "0001005780" "00002286" "30" "901" "0" "901" "0" "c.901G>A" "r.(?)" "p.(Val301Met)" "" "0001005781" "00002286" "30" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(His415Arg)" "" "0001005782" "00002286" "30" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Met)" "" "0001005783" "00002286" "10" "1404" "0" "1404" "0" "c.1404G>A" "r.(?)" "p.(Thr468=)" "" "0001005784" "00002286" "50" "1450" "0" "1450" "0" "c.1450G>A" "r.(?)" "p.(Val484Met)" "" "0001015897" "00002286" "10" "99" "0" "99" "0" "c.99T>C" "r.(?)" "p.(Ala33=)" "" "0001015898" "00002286" "90" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Arg139*)" "" "0001015899" "00002286" "10" "1203" "0" "1203" "0" "c.1203T>C" "r.(?)" "p.(=)" "" "0001027345" "00002286" "30" "652" "14" "652" "14" "c.652+14C>T" "r.(=)" "p.(=)" "" "0001043609" "00002286" "50" "132" "1" "132" "1" "c.132+1G>C" "r.spl?" "p.?" "" "0001043610" "00002286" "50" "132" "5" "132" "5" "c.132+5del" "r.spl?" "p.?" "" "0001043611" "00002286" "30" "538" "7" "538" "7" "c.538+7G>A" "r.(=)" "p.(=)" "" "0001043612" "00002286" "50" "995" "3" "995" "3" "c.995+3G>T" "r.spl?" "p.?" "" "0001043613" "00002286" "50" "995" "5" "995" "5" "c.995+5G>T" "r.spl?" "p.?" "" "0001043614" "00002286" "50" "1399" "0" "1399" "0" "c.1399G>A" "r.(?)" "p.(Gly467Arg)" "" "0001043615" "00002286" "30" "1404" "0" "1404" "0" "c.1404G>A" "r.(?)" "p.(Thr468=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 317 "{{screeningid}}" "{{variantid}}" "0000250990" "0000580419" "0000250991" "0000580420" "0000250992" "0000580421" "0000250993" "0000580422" "0000250994" "0000580423" "0000250995" "0000580424" "0000250996" "0000580425" "0000250997" "0000580426" "0000250998" "0000580427" "0000250999" "0000580428" "0000251000" "0000580429" "0000251001" "0000580430" "0000251001" "0000813338" "0000251001" "0000813343" "0000251001" "0000813346" "0000251002" "0000580431" "0000251003" "0000580432" "0000251004" "0000580433" "0000251005" "0000580434" "0000251006" "0000580435" "0000251007" "0000580436" "0000251008" "0000580437" "0000251009" "0000580438" "0000251011" "0000580440" "0000251012" "0000580441" "0000251013" "0000580442" "0000251014" "0000580443" "0000251015" "0000580444" "0000251016" "0000580445" "0000251017" "0000580446" "0000251018" "0000580447" "0000251019" "0000580448" "0000251021" "0000580450" "0000251022" "0000580451" "0000251023" "0000580452" "0000251024" "0000580453" "0000251025" "0000580454" "0000251026" "0000580455" "0000251027" "0000580570" "0000251028" "0000580571" "0000251029" "0000580456" "0000251030" "0000580457" "0000251031" "0000580458" "0000251032" "0000580459" "0000251033" "0000580460" "0000251034" "0000580461" "0000251035" "0000580462" "0000251036" "0000580463" "0000251037" "0000580464" "0000251037" "0000580528" "0000251038" "0000580465" "0000251039" "0000580466" "0000251040" "0000580467" "0000251041" "0000580468" "0000251042" "0000580469" "0000251043" "0000580470" "0000251044" "0000580471" "0000251045" "0000580472" "0000251046" "0000580473" "0000251047" "0000580474" "0000251048" "0000580475" "0000251049" "0000580476" "0000251051" "0000580478" "0000251052" "0000580479" "0000251053" "0000580480" "0000251054" "0000580481" "0000251055" "0000580482" "0000251056" "0000580483" "0000251057" "0000580484" "0000251058" "0000580485" "0000251059" "0000580486" "0000251060" "0000580487" "0000251061" "0000580488" "0000251062" "0000580489" "0000251063" "0000580490" "0000251064" "0000580491" "0000251065" "0000580492" "0000251066" "0000580493" "0000251067" "0000580494" "0000251068" "0000580495" "0000251068" "0000813342" "0000251069" "0000580496" "0000251070" "0000580497" "0000251071" "0000580498" "0000251072" "0000580499" "0000251073" "0000580500" "0000251074" "0000580501" "0000251075" "0000580502" "0000251076" "0000580503" "0000251077" "0000580504" "0000251078" "0000580505" "0000251079" "0000580506" "0000251080" "0000580507" "0000251081" "0000580508" "0000251082" "0000580509" "0000251083" "0000580510" "0000251084" "0000580511" "0000251085" "0000580512" "0000251086" "0000580513" "0000251087" "0000580514" "0000251088" "0000580515" "0000251089" "0000580516" "0000251090" "0000580517" "0000251091" "0000580518" "0000251092" "0000580519" "0000251093" "0000580520" "0000251094" "0000580521" "0000251095" "0000580522" "0000251096" "0000580523" "0000251097" "0000580524" "0000251098" "0000580525" "0000251099" "0000580526" "0000251100" "0000580527" "0000251101" "0000580529" "0000251102" "0000580530" "0000251103" "0000580531" "0000251104" "0000580532" "0000251105" "0000580533" "0000251106" "0000580534" "0000251107" "0000580535" "0000251107" "0000580536" "0000251108" "0000580537" "0000251109" "0000580538" "0000251110" "0000580539" "0000251111" "0000580540" "0000251112" "0000580541" "0000251112" "0000580542" "0000251113" "0000580543" "0000251114" "0000580544" "0000251115" "0000580545" "0000251116" "0000580546" "0000251117" "0000580547" "0000251118" "0000580548" "0000251119" "0000580549" "0000251120" "0000580550" "0000251121" "0000580551" "0000251122" "0000580552" "0000251123" "0000580553" "0000251124" "0000580554" "0000251125" "0000580555" "0000251126" "0000580556" "0000251127" "0000580557" "0000251128" "0000580558" "0000251129" "0000580559" "0000251130" "0000580560" "0000251131" "0000580561" "0000251132" "0000580562" "0000251133" "0000580563" "0000251134" "0000580564" "0000251135" "0000580565" "0000251136" "0000580566" "0000251137" "0000580567" "0000251138" "0000580568" "0000251138" "0000580569" "0000251139" "0000580572" "0000251140" "0000580573" "0000251141" "0000580574" "0000251142" "0000580575" "0000251143" "0000580576" "0000251144" "0000580577" "0000251145" "0000580578" "0000251145" "0000813344" "0000251145" "0000813345" "0000251146" "0000580579" "0000251147" "0000580580" "0000251148" "0000580581" "0000251149" "0000580582" "0000251150" "0000580583" "0000251151" "0000580584" "0000251152" "0000580585" "0000251153" "0000580586" "0000251153" "0000813341" "0000251154" "0000580587" "0000251155" "0000580588" "0000251156" "0000580589" "0000251157" "0000580590" "0000251158" "0000580591" "0000251159" "0000580592" "0000251160" "0000580593" "0000251161" "0000580594" "0000251162" "0000580595" "0000251163" "0000580596" "0000251164" "0000580597" "0000251165" "0000580598" "0000251166" "0000580599" "0000251167" "0000580600" "0000251168" "0000580601" "0000251169" "0000580602" "0000251170" "0000580603" "0000251171" "0000580604" "0000251172" "0000580605" "0000251173" "0000580606" "0000251174" "0000580607" "0000251175" "0000580608" "0000251176" "0000580609" "0000251177" "0000580610" "0000251178" "0000580611" "0000251179" "0000580612" "0000251180" "0000580613" "0000251181" "0000580614" "0000251182" "0000580615" "0000251183" "0000580616" "0000251184" "0000580617" "0000251185" "0000580618" "0000251186" "0000580619" "0000251187" "0000580620" "0000251188" "0000580621" "0000251189" "0000580622" "0000251190" "0000580623" "0000251190" "0000813339" "0000251191" "0000580624" "0000251192" "0000580625" "0000251193" "0000580626" "0000251194" "0000580627" "0000251195" "0000580628" "0000251196" "0000580629" "0000251197" "0000580630" "0000251198" "0000580631" "0000251199" "0000580632" "0000251200" "0000580633" "0000251201" "0000580634" "0000251202" "0000580635" "0000251203" "0000580636" "0000251204" "0000580637" "0000251205" "0000580638" "0000251206" "0000580639" "0000251207" "0000580640" "0000251208" "0000580641" "0000251209" "0000580642" "0000251210" "0000580643" "0000251211" "0000580644" "0000251213" "0000580646" "0000251214" "0000580647" "0000251215" "0000580648" "0000251216" "0000580649" "0000251217" "0000580650" "0000251218" "0000580651" "0000251219" "0000580652" "0000251220" "0000580653" "0000251221" "0000580654" "0000251222" "0000580655" "0000251223" "0000580656" "0000251225" "0000580658" "0000251226" "0000580659" "0000251228" "0000580661" "0000251229" "0000580662" "0000251230" "0000580663" "0000251231" "0000580664" "0000251232" "0000580665" "0000251233" "0000580666" "0000251234" "0000580667" "0000251235" "0000580668" "0000251236" "0000580669" "0000251237" "0000580670" "0000251238" "0000580671" "0000251239" "0000580672" "0000251240" "0000580673" "0000251241" "0000580674" "0000251242" "0000580675" "0000251243" "0000580676" "0000251244" "0000580677" "0000251245" "0000580678" "0000251246" "0000580679" "0000251247" "0000580680" "0000251248" "0000580681" "0000251249" "0000580682" "0000251250" "0000580683" "0000251251" "0000580684" "0000251252" "0000580685" "0000251253" "0000580686" "0000251254" "0000580687" "0000251255" "0000580688" "0000251256" "0000580689" "0000251257" "0000580690" "0000251258" "0000580691" "0000251259" "0000580692" "0000251261" "0000580694" "0000251262" "0000580695" "0000251263" "0000580696" "0000251264" "0000580697" "0000251265" "0000580698" "0000251266" "0000580699" "0000251267" "0000580700" "0000251268" "0000580701" "0000251269" "0000580702" "0000251270" "0000580703" "0000251271" "0000580704" "0000251272" "0000580705" "0000251273" "0000580706" "0000251275" "0000580708" "0000251276" "0000580709" "0000251277" "0000580710" "0000251278" "0000580711" "0000251279" "0000580712" "0000251280" "0000580713" "0000251281" "0000580714" "0000251282" "0000580715" "0000251283" "0000580716" "0000251284" "0000580717" "0000251285" "0000580718" "0000251286" "0000580719" "0000251287" "0000580720" "0000251288" "0000580721" "0000251289" "0000580722" "0000251290" "0000580723" "0000251291" "0000580724" "0000251292" "0000580725" "0000294186" "0000650875" "0000294187" "0000650876" "0000294188" "0000650877" "0000294190" "0000650879" "0000294191" "0000650880" "0000311026" "0000686196" "0000386069" "0000813347" "0000386070" "0000813348" "0000420879" "0000881238" "0000449236" "0000959003"