### LOVD-version 3000-240 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BTD) # 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}}" "{{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}}" "BTD" "biotinidase" "3" "p25" "unknown" "NG_008019.1" "UD_132118357766" "" "https://www.LOVD.nl/BTD" "Orphanet " "1" "1122" "686" "609019" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/BTD_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-01-12 00:00:00" "00006" "2017-06-29 09:07:19" "00000" "2020-08-06 14:59:34" ## 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}}" "00000126" "BTD" "biotinidase" "001" "NM_000060.2" "" "NP_000051.1" "" "" "" "-103" "1962" "1632" "15643255" "15687325" "00002" "2012-05-11 13:12:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01941" "-" "deficiency, biotinidase" "" "253260" "" "biotinidase deficiency, a form of multiple carboxylase deficiency" "autosomal recessive, caused by homozygous or compound heterozygous variants" "00006" "2014-09-25 23:29:40" "00006" "2017-06-26 10:49:40" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BTD" "01941" ## Individuals ## Do not remove or alter this header ## ## Count = 215 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00000010" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000021" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000028" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000056" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000061" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000086" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000087" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000089" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000094" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000096" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000107" "" "" "" "1" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00105944" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105945" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105946" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105947" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105948" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105949" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105950" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105951" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105952" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105953" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105954" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105955" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105956" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105957" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105958" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00105959" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00105960" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00105961" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105962" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105963" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105964" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105965" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105966" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105967" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105968" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105969" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105970" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105971" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105972" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105973" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105974" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105975" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105976" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105977" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105978" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105979" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105980" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105981" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105982" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105983" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105984" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105985" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105986" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105987" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105988" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105989" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105990" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105991" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105992" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105993" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105994" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105995" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105996" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105997" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105998" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00105999" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106000" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106001" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106002" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106003" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106004" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106005" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106006" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106007" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106008" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106009" "" "" "" "1" "01903" "{PMID:Pomponio 1997:9396567}" "" "?" "yes" "Italy" "" "0" "" "" "" "09396567-Pat41" "00106010" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106011" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106012" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106013" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106014" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106015" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106016" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106017" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106018" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106019" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106020" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106021" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106022" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106023" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106024" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106025" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106026" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106027" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106028" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106029" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106030" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106031" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106032" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106033" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106034" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106035" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106036" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106037" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106038" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106039" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106040" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106041" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106042" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106043" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106044" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106045" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106046" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106047" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106048" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106049" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106050" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106051" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106052" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106053" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106054" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106055" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106056" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106057" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106058" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106059" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106060" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106061" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106062" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106063" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106064" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106065" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106066" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106067" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106068" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106069" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106070" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106071" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106072" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106073" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106074" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106075" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106076" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106077" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106078" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106079" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106080" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106081" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106082" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106083" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106084" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106085" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106086" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106087" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106088" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106090" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106091" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106092" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106093" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106094" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106095" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106096" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106097" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106098" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106099" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106100" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106101" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106102" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106103" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106104" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106105" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106106" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106107" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106108" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106109" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106110" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106111" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106112" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106113" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106114" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106115" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106116" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106117" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106118" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106119" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106120" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106121" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106122" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106123" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106124" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106125" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106126" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106127" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106128" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106129" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106130" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106131" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00106132" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106133" "" "" "" "1" "01903" "{PMID:Wiltink 2016:27329734}" "" "" "" "" "" "0" "" "" "" "" "00106134" "" "" "" "1" "01903" "" "" "" "" "" "" "0" "" "" "" "" "00274290" "" "" "" "2" "03544" "2-generation family, 2 affected" "" "M" "no" "Czech Republic" ">09y" "0" "" "antiepileptic drug therapy" "white" "" "00274291" "" "" "00274290" "1" "03544" "" "brother of 00274290" "M" "no" "Czech Republic" ">02y" "0" "" "antiepileptic drug therapy" "white" "" "00293253" "" "" "" "19" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293254" "" "" "" "1" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293255" "" "" "" "1" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293257" "" "" "" "26" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293258" "" "" "" "182" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293259" "" "" "" "1" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293260" "" "" "" "1" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293261" "" "" "" "93" "03575" "Faruq 2020, submitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304930" "" "" "" "3" "03575" "Faruq 2020, subitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304931" "" "" "" "1" "03575" "Faruq 2020, subitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304932" "" "" "" "7" "03575" "Faruq 2020, subitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304933" "" "" "" "1" "03575" "Faruq 2020, subitted" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 206 "{{individualid}}" "{{diseaseid}}" "00000021" "05378" "00000094" "00198" "00105944" "01941" "00105945" "01941" "00105946" "01941" "00105947" "01941" "00105948" "01941" "00105949" "01941" "00105950" "01941" "00105951" "01941" "00105952" "01941" "00105953" "01941" "00105954" "01941" "00105955" "01941" "00105956" "01941" "00105957" "01941" "00105958" "01941" "00105959" "01941" "00105960" "01941" "00105961" "01941" "00105962" "01941" "00105963" "01941" "00105964" "01941" "00105965" "00198" "00105966" "01941" "00105967" "01941" "00105968" "01941" "00105969" "01941" "00105970" "01941" "00105971" "01941" "00105972" "01941" "00105973" "01941" "00105974" "01941" "00105975" "01941" "00105976" "01941" "00105977" "01941" "00105978" "01941" "00105979" "01941" "00105980" "01941" "00105981" "01941" "00105982" "01941" "00105983" "01941" "00105984" "01941" "00105985" "01941" "00105986" "01941" "00105987" "01941" "00105988" "01941" "00105989" "01941" "00105990" "01941" "00105991" "01941" "00105992" "01941" "00105993" "01941" "00105994" "01941" "00105995" "01941" "00105996" "01941" "00105997" "01941" "00105998" "01941" "00105999" "01941" "00106000" "01941" "00106001" "01941" "00106002" "01941" "00106003" "01941" "00106004" "01941" "00106005" "01941" "00106006" "01941" "00106007" "01941" "00106008" "01941" "00106009" "01941" "00106010" "01941" "00106011" "01941" "00106012" "01941" "00106013" "01941" "00106014" "01941" "00106015" "01941" "00106016" "01941" "00106017" "01941" "00106018" "01941" "00106019" "01941" "00106020" "01941" "00106021" "01941" "00106022" "01941" "00106023" "01941" "00106024" "01941" "00106025" "01941" "00106026" "01941" "00106027" "01941" "00106028" "01941" "00106029" "01941" "00106030" "01941" "00106031" "01941" "00106032" "01941" "00106033" "01941" "00106034" "01941" "00106035" "01941" "00106036" "01941" "00106037" "01941" "00106038" "01941" "00106039" "01941" "00106040" "01941" "00106041" "01941" "00106042" "01941" "00106043" "01941" "00106044" "01941" "00106045" "01941" "00106046" "01941" "00106047" "01941" "00106048" "01941" "00106049" "01941" "00106050" "01941" "00106051" "01941" "00106052" "01941" "00106053" "01941" "00106054" "01941" "00106055" "01941" "00106056" "01941" "00106057" "01941" "00106058" "01941" "00106059" "01941" "00106060" "01941" "00106061" "01941" "00106062" "01941" "00106063" "01941" "00106064" "01941" "00106065" "01941" "00106066" "01941" "00106067" "01941" "00106068" "01941" "00106069" "01941" "00106070" "01941" "00106071" "01941" "00106072" "01941" "00106073" "01941" "00106074" "01941" "00106075" "01941" "00106076" "01941" "00106077" "01941" "00106078" "01941" "00106079" "01941" "00106080" "01941" "00106081" "01941" "00106082" "01941" "00106083" "01941" "00106084" "01941" "00106085" "01941" "00106086" "01941" "00106087" "01941" "00106088" "01941" "00106090" "01941" "00106091" "01941" "00106092" "01941" "00106093" "01941" "00106094" "01941" "00106095" "01941" "00106096" "01941" "00106097" "01941" "00106098" "01941" "00106099" "01941" "00106100" "01941" "00106101" "01941" "00106102" "01941" "00106103" "01941" "00106104" "01941" "00106105" "01941" "00106106" "01941" "00106107" "01941" "00106108" "01941" "00106109" "01941" "00106110" "01941" "00106111" "01941" "00106112" "01941" "00106113" "01941" "00106114" "01941" "00106115" "01941" "00106116" "01941" "00106117" "01941" "00106118" "01941" "00106119" "01941" "00106120" "01941" "00106121" "01941" "00106122" "01941" "00106123" "01941" "00106124" "01941" "00106125" "01941" "00106126" "01941" "00106127" "01941" "00106128" "01941" "00106129" "01941" "00106130" "01941" "00106131" "01941" "00106132" "01941" "00106133" "01941" "00106134" "01941" "00274290" "04270" "00274291" "04270" "00293253" "00198" "00293254" "00198" "00293255" "00198" "00293257" "00198" "00293258" "00198" "00293259" "00198" "00293260" "00198" "00293261" "00198" "00304930" "00198" "00304931" "00198" "00304932" "00198" "00304933" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01941, 04270, 05378 ## Count = 92 "{{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}}" "0000083851" "01941" "00105944" "01903" "Unknown" "" "enzyme activity: 43%" "" "" "" "" "" "" "" "" "" "" "" "0000083852" "01941" "00105945" "01903" "Unknown" "" "enzyme activity: 54%" "" "" "" "" "" "" "" "" "" "" "" "0000083853" "01941" "00105946" "01903" "Unknown" "" "enzyme activity: 80%" "" "" "" "" "" "" "" "" "" "" "" "0000083854" "01941" "00105947" "01903" "Unknown" "" "enzyme activity: 109%" "" "" "" "" "" "" "" "" "" "" "" "0000083855" "01941" "00105948" "01903" "Unknown" "" "enzyme activity: 84%" "" "" "" "" "" "" "" "" "" "" "" "0000083856" "01941" "00105949" "01903" "Unknown" "" "enzyme activity: 106%" "" "" "" "" "" "" "" "" "" "" "" "0000083857" "01941" "00105950" "01903" "Unknown" "" "enzyme activity: 56%" "" "" "" "" "" "" "" "" "" "" "" "0000083858" "01941" "00105951" "01903" "Unknown" "" "enzyme activity: 52%" "" "" "" "" "" "" "" "" "" "" "" "0000083859" "01941" "00105952" "01903" "Unknown" "" "enzyme activity: 44%" "" "" "" "" "" "" "" "" "" "" "" "0000083860" "01941" "00105953" "01903" "Unknown" "" "enzyme activity: 54%" "" "" "" "" "" "" "" "" "" "" "" "0000083861" "01941" "00105954" "01903" "Unknown" "" "enzyme activity: 61%" "" "" "" "" "" "" "" "" "" "" "" "0000083862" "01941" "00105955" "01903" "Unknown" "" "enzyme activity: 58%" "" "" "" "" "" "" "" "" "" "" "" "0000083863" "01941" "00105956" "01903" "Unknown" "" "enzyme activity: 87%" "" "" "" "" "" "" "" "" "" "" "" "0000083864" "01941" "00105957" "01903" "Unknown" "" "enzyme activity: 56%" "" "" "" "" "" "" "" "" "" "" "" "0000083865" "01941" "00105958" "01903" "Unknown" "" "enzyme activity: 17%" "" "" "" "" "" "" "" "" "" "" "" "0000083866" "01941" "00105959" "01903" "Unknown" "" "enzyme activity: 26%" "" "" "" "" "" "" "" "" "" "" "" "0000083867" "01941" "00105960" "01903" "Unknown" "" "enzyme activity: 29%" "" "" "" "" "" "" "" "" "" "" "" "0000083868" "01941" "00105984" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083869" "01941" "00105986" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083870" "01941" "00106001" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083871" "01941" "00106008" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083872" "01941" "00106024" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083873" "01941" "00106035" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083874" "01941" "00106036" "01903" "Unknown" "" "multiple carboxylase deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000083875" "01941" "00106041" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083876" "01941" "00106050" "01903" "Unknown" "" "multiple carboxylase deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000083877" "01941" "00106053" "01903" "Unknown" "" "biotinidase deficiency, partial" "" "" "" "" "" "" "" "" "" "" "" "0000083878" "01941" "00106060" "01903" "Unknown" "" "multiple carboxylase deficiency" "" "" "" "" "" "" "" "" "" "" "" "0000083879" "01941" "00106075" "01903" "Unknown" "" "enzyme activity: 14%" "" "" "" "" "" "" "" "" "" "" "" "0000083880" "01941" "00106076" "01903" "Unknown" "" "enzyme activity: 44%" "" "" "" "" "" "" "" "" "" "" "" "0000083881" "01941" "00106077" "01903" "Unknown" "" "enzyme activity: 28%" "" "" "" "" "" "" "" "" "" "" "" "0000083882" "01941" "00106078" "01903" "Unknown" "" "enzyme activity: 32%" "" "" "" "" "" "" "" "" "" "" "" "0000083883" "01941" "00106079" "01903" "Unknown" "" "enzyme activity: 31%" "" "" "" "" "" "" "" "" "" "" "" "0000083884" "01941" "00106080" "01903" "Unknown" "" "enzyme activity: 18%" "" "" "" "" "" "" "" "" "" "" "" "0000083885" "01941" "00106081" "01903" "Unknown" "" "enzyme activity: 17%" "" "" "" "" "" "" "" "" "" "" "" "0000083886" "01941" "00106082" "01903" "Unknown" "" "enzyme activity: 27%" "" "" "" "" "" "" "" "" "" "" "" "0000083887" "01941" "00106083" "01903" "Unknown" "" "enzyme activity: 8%" "" "" "" "" "" "" "" "" "" "" "" "0000083888" "01941" "00106084" "01903" "Unknown" "" "enzyme activity: 34%" "" "" "" "" "" "" "" "" "" "" "" "0000083889" "01941" "00106085" "01903" "Unknown" "" "enzyme activity: 28%" "" "" "" "" "" "" "" "" "" "" "" "0000083890" "01941" "00106086" "01903" "Unknown" "" "enzyme activity: 24%" "" "" "" "" "" "" "" "" "" "" "" "0000083891" "01941" "00106087" "01903" "Unknown" "" "enzyme activity: 30%" "" "" "" "" "" "" "" "" "" "" "" "0000083892" "01941" "00106088" "01903" "Unknown" "" "enzyme activity: 20%" "" "" "" "" "" "" "" "" "" "" "" "0000083894" "01941" "00106090" "01903" "Unknown" "" "enzyme activity: 23%" "" "" "" "" "" "" "" "" "" "" "" "0000083895" "01941" "00106091" "01903" "Unknown" "" "enzyme activity: 33%" "" "" "" "" "" "" "" "" "" "" "" "0000083896" "01941" "00106092" "01903" "Unknown" "" "enzyme activity: 5%" "" "" "" "" "" "" "" "" "" "" "" "0000083897" "01941" "00106093" "01903" "Unknown" "" "enzyme activity: 26%" "" "" "" "" "" "" "" "" "" "" "" "0000083898" "01941" "00106094" "01903" "Unknown" "" "enzyme activity: 30%" "" "" "" "" "" "" "" "" "" "" "" "0000083899" "01941" "00106095" "01903" "Unknown" "" "enzyme activity: 19%" "" "" "" "" "" "" "" "" "" "" "" "0000083900" "01941" "00106096" "01903" "Unknown" "" "enzyme activity: 20%" "" "" "" "" "" "" "" "" "" "" "" "0000083901" "01941" "00106097" "01903" "Unknown" "" "enzyme activity: 16%" "" "" "" "" "" "" "" "" "" "" "" "0000083902" "01941" "00106098" "01903" "Unknown" "" "enzyme activity: 27%" "" "" "" "" "" "" "" "" "" "" "" "0000083903" "01941" "00106099" "01903" "Unknown" "" "enzyme activity: 30%" "" "" "" "" "" "" "" "" "" "" "" "0000083904" "01941" "00106100" "01903" "Unknown" "" "enzyme activity: 23%" "" "" "" "" "" "" "" "" "" "" "" "0000083905" "01941" "00106101" "01903" "Unknown" "" "enzyme activity: 23%" "" "" "" "" "" "" "" "" "" "" "" "0000083906" "01941" "00106102" "01903" "Unknown" "" "enzyme activity: 23%" "" "" "" "" "" "" "" "" "" "" "" "0000083907" "01941" "00106103" "01903" "Unknown" "" "enzyme activity: 15%" "" "" "" "" "" "" "" "" "" "" "" "0000083908" "01941" "00106104" "01903" "Unknown" "" "enzyme activity: 16%" "" "" "" "" "" "" "" "" "" "" "" "0000083909" "01941" "00106105" "01903" "Unknown" "" "enzyme activity: 30%" "" "" "" "" "" "" "" "" "" "" "" "0000083910" "01941" "00106106" "01903" "Unknown" "" "enzyme activity: 30%" "" "" "" "" "" "" "" "" "" "" "" "0000083911" "01941" "00106107" "01903" "Unknown" "" "enzyme activity: 18%" "" "" "" "" "" "" "" "" "" "" "" "0000083912" "01941" "00106108" "01903" "Unknown" "" "enzyme activity: 24%" "" "" "" "" "" "" "" "" "" "" "" "0000083913" "01941" "00106109" "01903" "Unknown" "" "enzyme activity: 21%" "" "" "" "" "" "" "" "" "" "" "" "0000083914" "01941" "00106110" "01903" "Unknown" "" "enzyme activity: 31%" "" "" "" "" "" "" "" "" "" "" "" "0000083915" "01941" "00106111" "01903" "Unknown" "" "enzyme activity: 23%" "" "" "" "" "" "" "" "" "" "" "" "0000083916" "01941" "00106112" "01903" "Unknown" "" "enzyme activity: 21%" "" "" "" "" "" "" "" "" "" "" "" "0000083917" "01941" "00106113" "01903" "Unknown" "" "enzyme activity: 22%" "" "" "" "" "" "" "" "" "" "" "" "0000083918" "01941" "00106114" "01903" "Unknown" "" "enzyme activity: 34%" "" "" "" "" "" "" "" "" "" "" "" "0000083919" "01941" "00106115" "01903" "Unknown" "" "enzyme activity: 10%" "" "" "" "" "" "" "" "" "" "" "" "0000083920" "01941" "00106116" "01903" "Unknown" "" "enzyme activity: 26%" "" "" "" "" "" "" "" "" "" "" "" "0000083921" "01941" "00106117" "01903" "Unknown" "" "enzyme activity: 30%" "" "" "" "" "" "" "" "" "" "" "" "0000083922" "01941" "00106118" "01903" "Unknown" "" "enzyme activity: 28%" "" "" "" "" "" "" "" "" "" "" "" "0000083923" "01941" "00106119" "01903" "Unknown" "" "enzyme activity: 39%" "" "" "" "" "" "" "" "" "" "" "" "0000083924" "01941" "00106120" "01903" "Unknown" "" "enzyme activity: 27%" "" "" "" "" "" "" "" "" "" "" "" "0000083925" "01941" "00106121" "01903" "Unknown" "" "enzyme activity: 29%" "" "" "" "" "" "" "" "" "" "" "" "0000083926" "01941" "00106122" "01903" "Unknown" "" "enzyme activity: 28%" "" "" "" "" "" "" "" "" "" "" "" "0000083927" "01941" "00106123" "01903" "Unknown" "" "enzyme activity: 26%" "" "" "" "" "" "" "" "" "" "" "" "0000083928" "01941" "00106124" "01903" "Unknown" "" "enzyme activity: 29%" "" "" "" "" "" "" "" "" "" "" "" "0000083929" "01941" "00106125" "01903" "Unknown" "" "enzyme activity: 28%" "" "" "" "" "" "" "" "" "" "" "" "0000083930" "01941" "00106126" "01903" "Unknown" "" "enzyme activity: 34%" "" "" "" "" "" "" "" "" "" "" "" "0000083931" "01941" "00106127" "01903" "Unknown" "" "enzyme activity: 28%" "" "" "" "" "" "" "" "" "" "" "" "0000083932" "01941" "00106128" "01903" "Unknown" "" "enzyme activity: 0%" "" "" "" "" "" "" "" "" "" "" "" "0000083933" "01941" "00106129" "01903" "Unknown" "" "enzyme activity: 4%" "" "" "" "" "" "" "" "" "" "" "" "0000083934" "01941" "00106130" "01903" "Unknown" "" "enzyme activity: 5%" "" "" "" "" "" "" "" "" "" "" "" "0000083935" "01941" "00106131" "01903" "Unknown" "" "enzyme activity: 6%" "" "" "" "" "" "" "" "" "" "" "" "0000083936" "01941" "00106132" "01903" "Unknown" "" "enzyme activity: 5%" "" "" "" "" "" "" "" "" "" "" "" "0000083937" "01941" "00106133" "01903" "Unknown" "" "enzyme activity: 8%" "" "" "" "" "" "" "" "" "" "" "" "0000083938" "01941" "00106134" "01903" "Unknown" "" "enzyme activity: 14%" "" "" "" "" "" "" "" "" "" "" "" "0000209232" "04270" "00274290" "03544" "Familial" "" "intractable atonic seizures" "08y" "" "" "" "" "" "" "" "" "" "" "0000209233" "04270" "00274290" "03544" "Familial" "00y06m" "intellectual disability, developmental delay, autistic features, cortical blindness" "" "" "" "" "" "" "" "" "" "" "" "0000209234" "04270" "00274290" "03544" "Familial, autosomal recessive" "" "biotinidase deficiency" "" "00y08m" "" "" "" "" "" "" "" "" "" "0000209236" "04270" "00274291" "03544" "Familial" "00y04m" "intractable seizures, developmental delay, central hypotonia\r\n\r\nbiotinidase deficiency not related to neurodevelopmental disorders" "00y14m" "" "" "" "" "" "" "" "" "" "" "0000209264" "04270" "00274291" "03544" "Familial, autosomal recessive" "" "biotinidase deficiency not related to epilepsy and neurodevelopmental disorders" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 215 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000021" "00000021" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000056" "00000056" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000061" "00000061" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000086" "00000086" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000087" "00000087" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000089" "00000089" "1" "00004" "" "2012-05-11 13:19:15" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000094" "00000094" "1" "00004" "" "2012-05-11 13:19:21" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000096" "00000096" "1" "00004" "" "2012-05-11 13:19:25" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000107" "00000107" "1" "00004" "" "2012-05-11 13:19:58" 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"" "" "0000106602" "00106131" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106603" "00106132" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106604" "00106133" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106605" "00106134" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000275447" "00274290" "1" "03544" "03544" "2019-12-28 06:13:20" "" "" "SEQ-NG-I" "DNA" "" "gene panel ClearSeq Inherited Disease (Agilent Technologies)" "0000275476" "00274291" "1" "03544" "03544" "2019-12-28 20:51:43" "" "" "SEQ-NG-I" "DNA" "" "gene panel ClearSeq Inherited Disease (Agilent Technologies)" "0000294421" "00293253" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294422" "00293254" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294423" 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"BTD" "0000106519" "BTD" "0000106520" "BTD" "0000106521" "BTD" "0000106522" "BTD" "0000106523" "BTD" "0000106524" "BTD" "0000106525" "BTD" "0000106526" "BTD" "0000106527" "BTD" "0000106528" "BTD" "0000106529" "BTD" "0000106530" "BTD" "0000106531" "BTD" "0000106532" "BTD" "0000106533" "BTD" "0000106534" "BTD" "0000106535" "BTD" "0000106536" "BTD" "0000106537" "BTD" "0000106538" "BTD" "0000106539" "BTD" "0000106540" "BTD" "0000106541" "BTD" "0000106542" "BTD" "0000106543" "BTD" "0000106544" "BTD" "0000106545" "BTD" "0000106546" "BTD" "0000106547" "BTD" "0000106548" "BTD" "0000106549" "BTD" "0000106550" "BTD" "0000106551" "BTD" "0000106552" "BTD" "0000106553" "BTD" "0000106554" "BTD" "0000106555" "BTD" "0000106556" "BTD" "0000106557" "BTD" "0000106558" "BTD" "0000106559" "BTD" "0000106561" "BTD" "0000106562" "BTD" "0000106563" "BTD" "0000106564" "BTD" "0000106565" "BTD" "0000106566" "BTD" "0000106567" "BTD" "0000106568" "BTD" "0000106569" "BTD" "0000106570" "BTD" "0000106571" "BTD" "0000106572" "BTD" "0000106573" "BTD" "0000106574" "BTD" "0000106575" "BTD" "0000106576" "BTD" "0000106577" "BTD" "0000106578" "BTD" "0000106579" "BTD" "0000106580" "BTD" "0000106581" "BTD" "0000106582" "BTD" "0000106583" "BTD" "0000106584" "BTD" "0000106585" "BTD" "0000106586" "BTD" "0000106587" "BTD" "0000106588" "BTD" "0000106589" "BTD" "0000106590" "BTD" "0000106591" "BTD" "0000106592" "BTD" "0000106593" "BTD" "0000106594" "BTD" "0000106595" "BTD" "0000106596" "BTD" "0000106597" "BTD" "0000106598" "BTD" "0000106599" "BTD" "0000106600" "BTD" "0000106601" "BTD" "0000106602" "BTD" "0000106603" "BTD" "0000106604" "BTD" "0000106605" "BTD" ## 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 = 364 "{{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}}" "0000000908" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645186G>C" "" "VUS" "" "0000000909" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645186G>C" "" "VUS" "" "0000000910" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645186G>C" "" "VUS" "" "0000000911" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645186G>C" "" "VUS" "" "0000000912" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645186G>C" "" "VUS" "" "0000000913" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645186G>C" "" "VUS" "" "0000000915" "0" "50" "3" "15677019" "15677019" "subst" "0.0111487" "00002" "BTD_000024" "g.15677019G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15635512G>A" "" "VUS" "" "0000000916" "0" "50" "3" "15677019" "15677019" "subst" "0.0111487" "00002" "BTD_000024" "g.15677019G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15635512G>A" "" "VUS" "" "0000000917" "0" "90" "3" "15686415" "15686415" "del" "0" "00002" "BTD_000002" "g.15686415del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.15644908del" "" "pathogenic" "" "0000000918" "0" "50" "3" "15686534" "15686534" "subst" "0.0179148" "00002" "BTD_000006" "g.15686534C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645027C>T" "" "VUS" "" "0000000919" "0" "50" "3" "15686534" "15686534" "subst" "0.0179148" "00002" "BTD_000006" "g.15686534C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.15645027C>T" "" "VUS" "" "0000172021" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172022" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172023" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172024" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172025" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172026" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172027" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172028" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172029" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172030" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172031" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172032" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172033" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172034" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172035" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172036" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172037" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000172038" "2" "55" "3" "15677147" "15677147" "subst" "0.0018453" "01903" "BTD_000121" "g.15677147C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15635640C>T" "" "VUS" "" "0000172039" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Muhl 2001:11313766}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000172040" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Milankovics 2007:17185019}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000172041" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Pomponio 1997:09158148}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000172042" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Pomponio 1997:09396567}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000172043" "1" "99" "3" "15676984" "15676990" "delins" "0" "01903" "BTD_000109" "g.15676984_15676990delinsTCC" "" "{PMID:Wiltink 2016:27329734}" "" "98-104del7ins3" "" "Germline" "" "" "0" "" "" "g.15635477_15635483delinsTCC" "" "pathogenic" "" "0000172044" "0" "55" "3" "15676984" "15676990" "delins" "0" "01903" "BTD_000109" "g.15676984_15676990delinsTCC" "" "" "" "" "" "Germline" "" "rs80338684" "0" "" "" "g.15635477_15635483delinsTCC" "" "VUS" "" "0000172045" "1" "95" "3" "15676984" "15676990" "delins" "0" "01903" "BTD_000109" "g.15676984_15676990delinsTCC" "" "{PMID:Pomponio 1995:07550325}, {OMIM609019:0001}" "" "" "" "Germline" "" "rs80338684" "0" "" "" "g.15635477_15635483delinsTCC" "" "pathogenic" "" "0000172046" "1" "99" "3" "15676986" "15676986" "subst" "0" "01903" "BTD_000123" "g.15676986G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15635479G>A" "" "pathogenic" "" "0000172047" "0" "55" "3" "15677019" "15677019" "subst" "0.0111487" "01903" "BTD_000024" "g.15677019G>A" "" "" "" "" "" "Germline" "" "rs34885143" "0" "" "" "g.15635512G>A" "" "VUS" "" "0000172048" "1" "55" "3" "15677019" "15677019" "subst" "0.0111487" "01903" "BTD_000024" "g.15677019G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs34885143" "0" "" "" "g.15635512G>A" "" "VUS" "" "0000172049" "1" "90" "3" "15677019" "15677019" "subst" "0.0111487" "01903" "BTD_000024" "g.15677019G>A" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "rs34885143" "0" "" "" "g.15635512G>A" "" "pathogenic" "" "0000172050" "1" "90" "3" "15677022" "15677022" "subst" "0" "01903" "BTD_000029" "g.15677022G>T" "" "{PMID:Milankovics 2007:17185019}" "" "" "" "Germline" "" "" "0" "" "" "g.15635515G>T" "" "pathogenic" "" "0000172051" "2" "75" "3" "15686802" "15686802" "subst" "0" "01903" "BTD_000114" "g.15686802G>A" "" "{PMID:Wiltink 2016:27329734}" "" "143G>A (Gly480Glu)" "variant reported as 143G>A, probably a typing error" "Germline" "" "" "0" "" "" "g.15645295G>A" "" "likely pathogenic" "" "0000172052" "1" "90" "3" "15677045" "15677045" "subst" "0" "01903" "BTD_000040" "g.15677045C>A" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15635538C>A" "" "pathogenic" "" "0000172053" "1" "90" "3" "15677046" "15677046" "subst" "0" "01903" "BTD_000041" "g.15677046G>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15635539G>T" "" "pathogenic" "" "0000172054" "1" "90" "3" "15677057" "15677057" "subst" "0" "01903" "BTD_000047" "g.15677057T>G" "" "{PMID:Pomponio 2000:10801053}" "" "" "" "Germline" "" "" "0" "" "" "g.15635550T>G" "" "pathogenic" "" "0000172055" "1" "90" "3" "15677070" "15677070" "subst" "0" "01903" "BTD_000048" "g.15677070G>A" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "g.15635563G>A" "" "pathogenic" "" "0000172056" "1" "90" "3" "15677070" "15677070" "subst" "0" "01903" "BTD_000049" "g.15677070G>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15635563G>T" "" "pathogenic" "" "0000172057" "1" "90" "3" "15677076" "15677076" "subst" "0" "01903" "BTD_000050" "g.15677076G>A" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15635569G>A" "" "pathogenic" "" "0000172058" "1" "90" "3" "15677098" "15677098" "subst" "0" "01903" "BTD_000051" "g.15677098T>C" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15635591T>C" "" "pathogenic" "" "0000172059" "1" "90" "3" "15677121" "15677121" "subst" "0" "01903" "BTD_000052" "g.15677121C>T" "" "{PMID:Pomponio 2000:10801053}" "" "" "" "Germline" "" "" "0" "" "" "g.15635614C>T" "" "pathogenic" "" "0000172060" "1" "90" "3" "15677122" "15677122" "subst" "0" "01903" "BTD_000053" "g.15677122G>A" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15635615G>A" "" "pathogenic" "" "0000172061" "1" "90" "3" "15677131" "15677131" "subst" "0" "01903" "BTD_000054" "g.15677131C>A" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15635624C>A" "" "pathogenic" "" "0000172062" "1" "90" "3" "15677133" "15677141" "del" "0" "01903" "BTD_000055" "g.15677133_15677141del" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15635626_15635634del" "" "pathogenic" "" "0000172063" "1" "90" "3" "15677148" "15677148" "subst" "0" "01903" "BTD_000056" "g.15677148C>T" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15635641C>T" "" "pathogenic" "" "0000172064" "1" "90" "3" "15677164" "15677164" "subst" "0" "01903" "BTD_000057" "g.15677164A>G" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15635657A>G" "" "pathogenic" "" "0000172065" "1" "90" "3" "15677169" "15677169" "subst" "0" "01903" "BTD_000058" "g.15677169C>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15635662C>T" "" "pathogenic" "" "0000172066" "1" "90" "3" "15677175" "15677175" "subst" "0" "01903" "BTD_000059" "g.15677175G>A" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15635668G>A" "" "pathogenic" "" "0000172067" "1" "90" "3" "15677184" "15677184" "subst" "0" "01903" "BTD_000060" "g.15677184G>A" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15635677G>A" "" "pathogenic" "" "0000172068" "1" "90" "3" "15683415" "15683415" "subst" "0" "01903" "BTD_000061" "g.15683415G>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15641908G>T" "" "pathogenic" "" "0000172069" "1" "90" "3" "15683431" "15683431" "subst" "0" "01903" "BTD_000062" "g.15683431T>G" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "g.15641924T>G" "" "pathogenic" "" "0000172070" "1" "90" "3" "15683439" "15683439" "subst" "0" "01903" "BTD_000063" "g.15683439G>A" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15641932G>A" "" "pathogenic" "" "0000172071" "1" "90" "3" "15683439" "15683439" "subst" "0" "01903" "BTD_000064" "g.15683439G>C" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15641932G>C" "" "pathogenic" "" "0000172072" "1" "90" "3" "15683446" "15683446" "subst" "0.0000768876" "01903" "BTD_000065" "g.15683446G>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15641939G>T" "" "pathogenic" "" "0000172073" "1" "90" "3" "15683469" "15683469" "subst" "0" "01903" "BTD_000066" "g.15683469A>G" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15641962A>G" "" "pathogenic" "" "0000172074" "1" "99" "3" "15683469" "15683469" "subst" "0" "01903" "BTD_000066" "g.15683469A>G" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15641962A>G" "" "pathogenic" "" "0000172075" "1" "90" "3" "15683487" "15683487" "subst" "0" "01903" "BTD_000067" "g.15683487T>G" "" "{PMID:Swango 1998:09654207}" "" "" "" "Germline" "" "" "0" "" "" "g.15641980T>G" "" "pathogenic" "" "0000172076" "1" "90" "3" "15683498" "15683498" "del" "0" "01903" "BTD_000068" "g.15683498del" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15641991del" "" "pathogenic" "" "0000172077" "1" "90" "3" "15683550" "15683550" "subst" "0" "01903" "BTD_000069" "g.15683550T>C" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15642043T>C" "" "pathogenic" "" "0000172078" "1" "90" "3" "15683559" "15683559" "subst" "0" "01903" "BTD_000070" "g.15683559A>C" "" "{PMID:Milankovics 2007:17185019}" "" "" "" "Germline" "" "" "0" "" "" "g.15642052A>C" "" "pathogenic" "" "0000172079" "2" "55" "3" "15683568" "15683568" "subst" "0" "01903" "BTD_000120" "g.15683568A>G" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15642061A>G" "" "VUS" "" "0000172080" "1" "90" "3" "15685829" "15685829" "subst" "0" "01903" "BTD_000071" "g.15685829C>T" "" "{PMID:Pomponio 2000:10801060}" "" "" "" "Germline" "" "" "0" "" "" "g.15644322C>T" "" "pathogenic" "" "0000172081" "1" "90" "3" "15685832" "15685832" "subst" "0" "01903" "BTD_000072" "g.15685832C>T" "" "{PMID:Milankovics 2007:17185019}" "" "" "" "Germline" "" "" "0" "" "" "g.15644325C>T" "" "pathogenic" "" "0000172082" "1" "90" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15644326G>A" "" "pathogenic" "" "0000172083" "1" "99" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644326G>A" "" "pathogenic" "" "0000172084" "1" "99" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644326G>A" "" "pathogenic" "" "0000172085" "3" "99" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644326G>A" "" "pathogenic" "" "0000172086" "1" "90" "3" "15685848" "15685848" "subst" "0" "01903" "BTD_000074" "g.15685848C>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15644341C>T" "" "pathogenic" "" "0000172087" "1" "90" "3" "15685853" "15685854" "del" "0" "01903" "BTD_000075" "g.15685853_15685854del" "" "{PMID:Pomponio 2000:10801060}" "" "" "" "Germline" "" "" "0" "" "" "g.15644346_15644347del" "" "pathogenic" "" "0000172088" "0" "55" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "VUS" "" "0000172089" "1" "90" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Norrgard 1997:10206677}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172090" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172091" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172092" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172093" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172094" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172095" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172096" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172097" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172098" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172099" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172100" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172101" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000172102" "1" "90" "3" "15685878" "15685878" "subst" "0" "01903" "BTD_000077" "g.15685878A>G" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "g.15644371A>G" "" "pathogenic" "" "0000172103" "1" "90" "3" "15685891" "15685891" "subst" "0" "01903" "BTD_000078" "g.15685891G>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15644384G>T" "" "pathogenic" "" "0000172104" "1" "90" "3" "15685907" "15685907" "del" "0" "01903" "BTD_000079" "g.15685907del" "" "{PMID:Pomponio 2000:10801060}" "" "" "" "Germline" "" "" "0" "" "" "g.15644400del" "" "pathogenic" "" "0000172105" "1" "90" "3" "15685920" "15685920" "subst" "0" "01903" "BTD_000080" "g.15685920G>A" "" "{PMID:Pomponio 2000:10801053}" "" "" "" "Germline" "" "" "0" "" "" "g.15644413G>A" "" "pathogenic" "" "0000172106" "1" "90" "3" "15685946" "15685946" "subst" "0" "01903" "BTD_000081" "g.15685946A>G" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15644439A>G" "" "pathogenic" "" "0000172107" "1" "90" "3" "15685947" "15685947" "subst" "0" "01903" "BTD_000082" "g.15685947A>G" "" "{PMID:Milankovics 2007:17185019}" "" "" "" "Germline" "" "" "0" "" "" "g.15644440A>G" "" "pathogenic" "" "0000172108" "1" "90" "3" "15685950" "15685950" "subst" "0" "01903" "BTD_000083" "g.15685950C>G" "" "{PMID:Pomponio 2000:10801053}" "" "" "" "Germline" "" "" "0" "" "" "g.15644443C>G" "" "pathogenic" "" "0000172109" "3" "90" "3" "15685957" "15685959" "del" "0" "01903" "BTD_000084" "g.15685957_15685959del" "" "{PMID:Pomponio 1997:09396567}" "" "dC594-596" "" "Germline" "" "" "0" "" "" "g.15644450_15644452del" "" "pathogenic" "" "0000172110" "1" "90" "3" "15685957" "15685957" "del" "0" "01903" "BTD_000085" "g.15685957del" "" "{PMID:Funghini 2002:12227467}" "" "" "" "Germline" "" "" "0" "" "" "g.15644450del" "" "pathogenic" "" "0000172111" "1" "90" "3" "15685958" "15685958" "subst" "0" "01903" "BTD_000086" "g.15685958G>A" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15644451G>A" "" "pathogenic" "" "0000172112" "1" "99" "3" "15685958" "15685958" "subst" "0" "01903" "BTD_000086" "g.15685958G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644451G>A" "" "pathogenic" "" "0000172113" "2" "99" "3" "15685958" "15685958" "subst" "0" "01903" "BTD_000086" "g.15685958G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644451G>A" "" "pathogenic" "" "0000172114" "1" "90" "3" "15685992" "15685992" "subst" "0" "01903" "BTD_000087" "g.15685992A>G" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15644485A>G" "" "pathogenic" "" "0000172115" "1" "90" "3" "15685994" "15685994" "subst" "0.0000768876" "01903" "BTD_000088" "g.15685994C>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15644487C>T" "" "pathogenic" "" "0000172116" "1" "99" "3" "15685994" "15685994" "subst" "0.0000768876" "01903" "BTD_000088" "g.15685994C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644487C>T" "" "pathogenic" "" "0000172117" "2" "99" "3" "15685994" "15685994" "subst" "0.0000768876" "01903" "BTD_000088" "g.15685994C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644487C>T" "" "pathogenic" "" "0000172118" "1" "90" "3" "15686004" "15686004" "subst" "0" "01903" "BTD_000089" "g.15686004A>G" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15644497A>G" "" "pathogenic" "" "0000172119" "1" "90" "3" "15686006" "15686006" "subst" "0" "01903" "BTD_000090" "g.15686006C>T" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15644499C>T" "" "pathogenic" "" "0000172120" "1" "55" "3" "15686008" "15686008" "subst" "0.0074581" "01903" "BTD_000112" "g.15686008C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644501C>T" "" "VUS" "" "0000172121" "2" "55" "3" "15686008" "15686008" "subst" "0.0074581" "01903" "BTD_000112" "g.15686008C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644501C>T" "" "VUS" "" "0000172122" "1" "90" "3" "15686015" "15686015" "subst" "0" "01903" "BTD_000091" "g.15686015G>C" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15644508G>C" "" "pathogenic" "" "0000172123" "1" "90" "3" "15686017" "15686017" "subst" "0" "01903" "BTD_000092" "g.15686017G>C" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15644510G>C" "" "pathogenic" "" "0000172124" "1" "90" "3" "15686045" "15686045" "subst" "0" "01903" "BTD_000093" "g.15686045G>T" "" "{PMID:Swango 1998:09654207}" "" "" "" "Germline" "" "" "0" "" "" "g.15644538G>T" "" "pathogenic" "" "0000172125" "1" "90" "3" "15686097" "15686097" "subst" "0" "01903" "BTD_000094" "g.15686097G>A" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15644590G>A" "" "pathogenic" "" "0000172126" "0" "55" "3" "15686118" "15686118" "subst" "0" "01903" "BTD_000095" "g.15686118A>G" "" "" "" "" "" "Germline" "" "rs28934601" "0" "" "" "g.15644611A>G" "" "VUS" "" "0000172127" "1" "90" "3" "15686118" "15686118" "subst" "0" "01903" "BTD_000095" "g.15686118A>G" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "rs28934601" "0" "" "" "g.15644611A>G" "" "pathogenic" "" "0000172128" "1" "90" "3" "15686120" "15686120" "subst" "0" "01903" "BTD_000096" "g.15686120C>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15644613C>T" "" "pathogenic" "" "0000172129" "1" "90" "3" "15686157" "15686157" "subst" "0" "01903" "BTD_000097" "g.15686157A>T" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15644650A>T" "" "pathogenic" "" "0000172130" "1" "90" "3" "15686195" "15686195" "subst" "0" "01903" "BTD_000098" "g.15686195C>G" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15644688C>G" "" "pathogenic" "" "0000172131" "1" "90" "3" "15686196" "15686196" "subst" "0" "01903" "BTD_000099" "g.15686196T>C" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15644689T>C" "" "pathogenic" "" "0000172132" "1" "90" "3" "15686199" "15686199" "subst" "0" "01903" "BTD_000100" "g.15686199T>G" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "g.15644692T>G" "" "pathogenic" "" "0000172133" "1" "90" "3" "15686228" "15686228" "subst" "0" "01903" "BTD_000101" "g.15686228G>C" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15644721G>C" "" "pathogenic" "" "0000172134" "1" "90" "3" "15686250" "15686250" "subst" "0" "01903" "BTD_000102" "g.15686250T>G" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15644743T>G" "" "pathogenic" "" "0000172135" "1" "90" "3" "15686292" "15686292" "subst" "0" "01903" "BTD_000103" "g.15686292G>A" "" "{PMID:Pomponio 2000:10801053}" "" "" "" "Germline" "" "" "0" "" "" "g.15644785G>A" "" "pathogenic" "" "0000172136" "1" "90" "3" "15686295" "15686295" "subst" "0" "01903" "BTD_000104" "g.15686295G>A" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15644788G>A" "" "pathogenic" "" "0000172137" "1" "90" "3" "15686296" "15686296" "del" "0" "01903" "BTD_000105" "g.15686296del" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15644789del" "" "pathogenic" "" "0000172138" "1" "90" "3" "15686297" "15686297" "subst" "0" "01903" "BTD_000106" "g.15686297G>A" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15644790G>A" "" "pathogenic" "" "0000172139" "1" "90" "3" "15686298" "15686298" "subst" "0.0000768876" "01903" "BTD_000107" "g.15686298G>A" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15644791G>A" "" "pathogenic" "" "0000172140" "1" "90" "3" "15686331" "15686331" "subst" "0" "01903" "BTD_000108" "g.15686331A>G" "" "{PMID:Swango 1998:09654207}" "" "" "" "Germline" "" "" "0" "" "" "g.15644824A>G" "" "pathogenic" "" "0000172141" "1" "99" "3" "15686331" "15686331" "subst" "0" "01903" "BTD_000108" "g.15686331A>G" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644824A>G" "" "pathogenic" "" "0000172142" "1" "90" "3" "15686412" "15686412" "del" "0" "01903" "BTD_000001" "g.15686412del" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15644905del" "" "pathogenic" "" "0000172143" "1" "90" "3" "15686415" "15686415" "del" "0" "01903" "BTD_000002" "g.15686415del" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15644908del" "" "pathogenic" "" "0000172144" "11" "30" "3" "15686425" "15686425" "subst" "0.00230663" "01903" "BTD_000110" "g.15686425G>A" "rare" "" "" "" "normal BTD activity in parent, probable in index" "Germline" "" "" "0" "" "" "g.15644918G>A" "" "likely benign" "" "0000172145" "2" "99" "3" "15686453" "15686453" "dup" "0" "01903" "BTD_000122" "g.15686453dup" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644946dup" "" "pathogenic" "" "0000172146" "2" "99" "3" "15686453" "15686453" "dup" "0" "01903" "BTD_000122" "g.15686453dup" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644946dup" "" "pathogenic" "" "0000172147" "1" "55" "3" "15686464" "15686464" "subst" "0.0000768876" "01903" "BTD_000113" "g.15686464C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15644957C>T" "" "VUS" "" "0000172148" "1" "90" "3" "15686469" "15686469" "subst" "0" "01903" "BTD_000003" "g.15686469C>T" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15644962C>T" "" "pathogenic" "" "0000172149" "1" "90" "3" "15686520" "15686520" "subst" "0" "01903" "BTD_000004" "g.15686520G>A" "" "{PMID:Wang 2009:19806568}" "" "" "" "Germline" "" "" "0" "" "" "g.15645013G>A" "" "pathogenic" "" "0000172150" "1" "90" "3" "15686521" "15686521" "subst" "0" "01903" "BTD_000005" "g.15686521G>A" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15645014G>A" "" "pathogenic" "" "0000172151" "0" "55" "3" "15686534" "15686534" "subst" "0.0179148" "01903" "BTD_000006" "g.15686534C>T" "" "" "" "" "" "Germline" "" "rs35034250" "0" "" "" "g.15645027C>T" "" "VUS" "" "0000172152" "1" "90" "3" "15686534" "15686534" "subst" "0.0179148" "01903" "BTD_000006" "g.15686534C>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "rs35034250" "0" "" "" "g.15645027C>T" "" "pathogenic" "" "0000172153" "1" "90" "3" "15686554" "15686555" "del" "0" "01903" "BTD_000007" "g.15686554_15686555del" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15645047_15645048del" "" "pathogenic" "" "0000172154" "1" "90" "3" "15686570" "15686570" "subst" "0" "01903" "BTD_000008" "g.15686570T>G" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15645063T>G" "" "pathogenic" "" "0000172155" "1" "90" "3" "15686574" "15686574" "subst" "0" "01903" "BTD_000009" "g.15686574C>T" "" "{PMID:Funghini 2002:12227467}" "" "" "" "Germline" "" "" "0" "" "" "g.15645067C>T" "" "pathogenic" "" "0000172156" "1" "95" "3" "15686590" "15686604" "delins" "0" "01903" "BTD_000010" "g.15686590_15686604delinsTTCCAATGGCC" "" "{PMID:Pomponio 1996:08894703}, {OMIM609019:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.15645083_15645097delinsTTCCAATGGCC" "" "pathogenic" "" "0000172157" "1" "90" "3" "15686602" "15686602" "del" "0" "01903" "BTD_000011" "g.15686602del" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15645095del" "" "pathogenic" "" "0000172158" "1" "90" "3" "15686604" "15686615" "del" "0" "01903" "BTD_000012" "g.15686604_15686615del" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15645097_15645108del" "" "pathogenic" "" "0000172159" "1" "55" "3" "15686615" "15686615" "subst" "0" "01903" "BTD_000117" "g.15686615T>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645108T>C" "" "VUS" "" "0000172160" "1" "90" "3" "15686616" "15686616" "subst" "0" "01903" "BTD_000013" "g.15686616G>C" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15645109G>C" "" "pathogenic" "" "0000172161" "1" "90" "3" "15686630" "15686630" "subst" "0" "01903" "BTD_000014" "g.15686630T>C" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15645123T>C" "" "pathogenic" "" "0000172162" "1" "90" "3" "15686631" "15686631" "subst" "0" "01903" "BTD_000015" "g.15686631G>C" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "g.15645124G>C" "" "pathogenic" "" "0000172163" "1" "90" "3" "15686634" "15686634" "subst" "0" "01903" "BTD_000016" "g.15686634G>A" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15645127G>A" "" "pathogenic" "" "0000172164" "1" "90" "3" "15686634" "15686634" "subst" "0" "01903" "BTD_000017" "g.15686634G>C" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15645127G>C" "" "pathogenic" "" "0000172165" "1" "90" "3" "15686647" "15686647" "subst" "0" "01903" "BTD_000018" "g.15686647C>A" "" "{PMID:Wang 2009:19806568}" "" "" "" "Germline" "" "" "0" "" "" "g.15645140C>A" "" "pathogenic" "" "0000172166" "1" "90" "3" "15686676" "15686676" "subst" "0" "01903" "BTD_000019" "g.15686676A>G" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15645169A>G" "" "pathogenic" "" "0000172167" "1" "90" "3" "15686677" "15686677" "subst" "0" "01903" "BTD_000020" "g.15686677T>A" "" "{PMID:Neto 2004:15060693}" "" "" "" "Germline" "" "" "0" "" "" "g.15645170T>A" "" "pathogenic" "" "0000172168" "0" "55" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "VUS" "" "0000172169" "1" "90" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Norrgard 1997:10206677}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172170" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172171" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172172" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172173" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172174" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172175" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172176" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172177" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172178" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172179" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172180" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172181" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172182" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172183" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172184" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172185" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172186" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172187" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172188" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172189" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172190" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172191" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172192" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172193" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172194" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172195" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172196" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172197" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172198" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172199" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172200" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172201" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172202" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172203" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172204" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172205" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172206" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172207" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172208" "1" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" 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"{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172214" "2" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172215" "2" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172216" "2" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172217" "2" "99" "3" "15686693" "15686693" "subst" "0.030063" "01903" "BTD_000021" "g.15686693G>C" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic" "" "0000172218" 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"90" "3" "15686826" "15686826" "subst" "0" "01903" "BTD_000033" "g.15686826G>A" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "g.15645319G>A" "" "pathogenic" "" "0000172266" "1" "90" "3" "15686829" "15686829" "subst" "0" "01903" "BTD_000034" "g.15686829A>C" "" "{PMID:Pomponio 1998:09705240}" "" "" "" "Germline" "" "" "0" "" "" "g.15645322A>C" "" "pathogenic" "" "0000172267" "1" "90" "3" "15686852" "15686852" "subst" "0.0000768876" "01903" "BTD_000035" "g.15686852C>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15645345C>T" "" "pathogenic" "" "0000172268" "1" "90" "3" "15686856" "15686856" "dup" "0" "01903" "BTD_000036" "g.15686856dup" "" "{PMID:Sivri 2007:17382128}" "" "" "" "Germline" "" "" "0" "" "" "g.15645349dup" "" "pathogenic" "" "0000172269" "1" "90" "3" "15686874" "15686874" "subst" "0" "01903" "BTD_000037" "g.15686874T>A" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "g.15645367T>A" "" "pathogenic" "" "0000172270" "1" "99" "3" "15686888" "15686888" "subst" "0" "01903" "BTD_000118" "g.15686888C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645381C>T" "" "pathogenic" "" "0000172271" "1" "90" "3" "15686894" "15686894" "subst" "0" "01903" "BTD_000038" "g.15686894C>G" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "g.15645387C>G" "" "pathogenic" "" "0000172272" "1" "90" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172273" "1" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172274" "1" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172275" "1" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172276" "2" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172277" "2" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172278" "2" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172279" "2" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172280" "2" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172281" "2" "99" "3" "15686958" "15686958" "subst" "0.000153965" "01903" "BTD_000039" "g.15686958C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000172282" "1" "90" "3" "15686973" "15686973" "subst" "0" "01903" "BTD_000042" "g.15686973G>T" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "g.15645466G>T" "" "pathogenic" "" "0000172283" "0" "55" "3" "15686975" "15686975" "subst" "0" "01903" "BTD_000043" "g.15686975C>T" "" "" "" "" "" "Germline" "" "rs80338686" "0" "" "" "g.15645468C>T" "" "VUS" "" "0000172284" "1" "95" "3" "15686975" "15686975" "subst" "0" "01903" "BTD_000043" "g.15686975C>T" "" "{PMID:Pomponio 1997:09099842}, {OMIM609019:0003}" "" "" "" "Germline" "" "rs80338686" "0" "" "" "g.15645468C>T" "" "pathogenic" "" "0000172285" "1" "99" "3" "15686975" "15686975" "subst" "0" "01903" "BTD_000043" "g.15686975C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs80338686" "0" "" "" "g.15645468C>T" "" "pathogenic" "" "0000172286" "2" "99" "3" "15686975" "15686975" "subst" "0" "01903" "BTD_000043" "g.15686975C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs80338686" "0" "" "" "g.15645468C>T" "" "pathogenic" "" "0000172287" "2" "99" "3" "15686975" "15686975" "subst" "0" "01903" "BTD_000043" "g.15686975C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs80338686" "0" "" "" "g.15645468C>T" "" "pathogenic" "" "0000172288" "1" "90" "3" "15686979" "15686979" "dup" "0" "01903" "BTD_000044" "g.15686979dup" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15645472dup" "" "pathogenic" "" "0000172289" "1" "90" "3" "15686982" "15686982" "subst" "0" "01903" "BTD_000045" "g.15686982A>G" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "g.15645475A>G" "" "pathogenic" "" "0000172290" "1" "90" "3" "15686990" "15686990" "subst" "0" "01903" "BTD_000046" "g.15686990G>C" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "g.15645483G>C" "" "pathogenic" "" "0000172291" "2" "55" "3" "" "" "" "0" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000172292" "1" "99" "3" "15686627" "15686627" "dup" "0" "01903" "BTD_000111" "g.15686627dup" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "g.15645120dup" "" "pathogenic" "" "0000249026" "0" "10" "3" "15643043" "15643043" "subst" "0" "02325" "BTD_000124" "g.15643043A>G" "" "" "" "HACL1(NM_012260.3):c.-73T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15601536A>G" "" "benign" "" "0000250832" "0" "90" "3" "15686731" "15686731" "subst" "0.000999539" "02326" "BTD_000027" "g.15686731A>C" "" "" "" "BTD(NM_000060.4):c.1368A>C (p.Q456H), BTD(NM_001323582.1):c.1308A>C (p.Q436H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645224A>C" "" "pathogenic" "" "0000251868" "0" "30" "3" "15686243" "15686243" "subst" "0.0133784" "02326" "BTD_000136" "g.15686243A>G" "" "" "" "BTD(NM_000060.4):c.880A>G (p.I294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644736A>G" "" "likely benign" "" "0000252657" "0" "50" "3" "15686118" "15686118" "subst" "0" "02326" "BTD_000095" "g.15686118A>G" "" "" "" "BTD(NM_000060.4):c.755A>G (p.D252G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644611A>G" "" "VUS" "" "0000255387" "0" "90" "3" "15686731" "15686731" "subst" "0.000999539" "01943" "BTD_000027" "g.15686731A>C" "" "" "" "BTD(NM_000060.4):c.1368A>C (p.Q456H), BTD(NM_001323582.1):c.1308A>C (p.Q436H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645224A>C" "" "pathogenic" "" "0000255564" "0" "90" "3" "15685968" "15685968" "subst" "0" "01943" "BTD_000129" "g.15685968A>T" "" "" "" "BTD(NM_000060.4):c.605A>T (p.N202I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644461A>T" "" "pathogenic" "" "0000255590" "0" "90" "3" "15683469" "15683469" "subst" "0" "01943" "BTD_000066" "g.15683469A>G" "" "" "" "BTD(NM_000060.4):c.364A>G (p.R122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15641962A>G" "" "pathogenic" "" "0000255660" "0" "90" "3" "15686724" "15686724" "subst" "0" "01943" "BTD_000026" "g.15686724A>G" "" "" "" "BTD(NM_000060.4):c.1361A>G (p.Y454C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645217A>G" "" "pathogenic" "" "0000255909" "0" "50" "3" "15683563" "15683563" "subst" "0" "01943" "BTD_000127" "g.15683563A>G" "" "" "" "BTD(NM_000060.4):c.458A>G (p.E153G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15642056A>G" "" "VUS" "" "0000256533" "0" "50" "3" "15683559" "15683559" "subst" "0" "01943" "BTD_000070" "g.15683559A>C" "" "" "" "BTD(NM_000060.4):c.454A>C (p.T152P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15642052A>C" "" "VUS" "" "0000256671" "0" "50" "3" "15686637" "15686637" "subst" "0" "01943" "BTD_000144" "g.15686637A>G" "" "" "" "BTD(NM_000060.4):c.1274A>G (p.Y425C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645130A>G" "" "VUS" "" "0000256678" "0" "50" "3" "15686970" "15686970" "subst" "0" "01943" "BTD_000145" "g.15686970A>C" "" "" "" "BTD(NM_000060.4):c.1607A>C (p.Y536S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645463A>C" "" "VUS" "" "0000256698" "0" "50" "3" "15683568" "15683568" "subst" "0" "01943" "BTD_000120" "g.15683568A>G" "" "" "" "BTD(NM_000060.4):c.459+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15642061A>G" "" "VUS" "" "0000263819" "0" "10" "3" "15686534" "15686534" "subst" "0.0179148" "02330" "BTD_000006" "g.15686534C>T" "" "" "" "BTD(NM_000060.4):c.1171C>T (p.P391S), BTD(NM_001281723.3):c.1111C>T (p.P371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645027C>T" "" "benign" "" "0000266341" "0" "10" "3" "15686534" "15686534" "subst" "0.0179148" "02325" "BTD_000006" "g.15686534C>T" "" "" "" "BTD(NM_000060.4):c.1171C>T (p.P391S), BTD(NM_001281723.3):c.1111C>T (p.P371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645027C>T" "" "benign" "" "0000266342" "0" "30" "3" "15677148" "15677148" "subst" "0.0018453" "02325" "BTD_000125" "g.15677148C>G" "" "" "" "BTD(NM_001281723.2):c.268C>G (p.Q90E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15635641C>G" "" "likely benign" "" "0000268010" "0" "50" "3" "15686120" "15686120" "subst" "0" "02329" "BTD_000135" "g.15686120C>A" "" "" "" "BTD(NM_001281723.3):c.697C>A (p.P233T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644613C>A" "" "VUS" "" "0000269390" "0" "30" "3" "15686534" "15686534" "subst" "0.0179148" "02326" "BTD_000006" "g.15686534C>T" "" "" "" "BTD(NM_000060.4):c.1171C>T (p.P391S), BTD(NM_001281723.3):c.1111C>T (p.P371S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645027C>T" "" "likely benign" "" "0000269391" "0" "90" "3" "15686958" "15686958" "subst" "0.000153965" "02326" "BTD_000039" "g.15686958C>T" "" "" "" "BTD(NM_000060.4):c.1595C>T (p.T532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000269392" "0" "90" "3" "15686975" "15686975" "subst" "0" "02326" "BTD_000142" "g.15686975C>A" "" "" "" "BTD(NM_000060.4):c.1612C>A (p.R538S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645468C>A" "" "pathogenic" "" "0000272176" "0" "90" "3" "15676986" "15676986" "subst" "0" "01943" "BTD_000123" "g.15676986G>A" "" "" "" "BTD(NM_000060.4):c.100G>A (p.G34S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15635479G>A" "" "pathogenic" "" "0000272177" "0" "30" "3" "15686425" "15686425" "subst" "0.00230663" "01943" "BTD_000110" "g.15686425G>A" "" "" "" "BTD(NM_000060.4):c.1062G>A (p.T354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644918G>A" "" "likely benign" "" "0000272178" "0" "90" "3" "15686453" "15686453" "dup" "0" "01943" "BTD_000137" "g.15686453dup" "" "" "" "BTD(NM_000060.4):c.1090dupA (p.I364Nfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644946dup" "" "pathogenic" "" "0000272179" "0" "30" "3" "15686464" "15686464" "subst" "0.0000768876" "01943" "BTD_000113" "g.15686464C>T" "" "" "" "BTD(NM_000060.4):c.1101C>T (p.G367=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644957C>T" "" "likely benign" "" "0000272180" "0" "50" "3" "15686615" "15686615" "subst" "0" "01943" "BTD_000117" "g.15686615T>C" "" "" "" "BTD(NM_000060.4):c.1252T>C (p.C418R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645108T>C" "" "VUS" "" "0000272181" "0" "90" "3" "15686627" "15686627" "dup" "0" "01943" "BTD_000138" "g.15686627dup" "" "" "" "BTD(NM_000060.4):c.1264dupC (p.L422Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645120dup" "" "pathogenic" "" "0000272182" "0" "90" "3" "15686630" "15686630" "subst" "0" "01943" "BTD_000014" "g.15686630T>C" "" "" "" "BTD(NM_000060.4):c.1267T>C (p.C423R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645123T>C" "" "pathogenic" "" "0000272183" "0" "10" "3" "15686647" "15686647" "subst" "0.0128422" "01943" "BTD_000139" "g.15686647C>T" "" "" "" "BTD(NM_000060.4):c.1284C>T (p.Y428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645140C>T" "" "benign" "" "0000272184" "0" "10" "3" "15686776" "15686776" "subst" "0.0825773" "01943" "BTD_000140" "g.15686776T>C" "" "" "" "BTD(NM_000060.4):c.1413T>C (p.C471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645269T>C" "" "benign" "" "0000272185" "0" "50" "3" "15686777" "15686777" "subst" "0" "01943" "BTD_000116" "g.15686777G>A" "" "" "" "BTD(NM_000060.4):c.1414G>A (p.G472R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645270G>A" "" "VUS" "" "0000272186" "0" "50" "3" "15686795" "15686795" "subst" "0" "01943" "BTD_000141" "g.15686795G>C" "" "" "" "BTD(NM_000060.4):c.1432G>C (p.A478P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645288G>C" "" "VUS" "" "0000272187" "0" "30" "3" "15686802" "15686802" "subst" "0" "01943" "BTD_000114" "g.15686802G>A" "" "" "" "BTD(NM_000060.4):c.1439G>A (p.G480E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645295G>A" "" "likely benign" "" "0000272188" "0" "90" "3" "15686852" "15686852" "subst" "0.0000768876" "01943" "BTD_000035" "g.15686852C>T" "" "" "" "BTD(NM_000060.4):c.1489C>T (p.P497S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645345C>T" "" "pathogenic" "" "0000272189" "0" "50" "3" "15686888" "15686888" "subst" "0" "01943" "BTD_000118" "g.15686888C>T" "" "" "" "BTD(NM_000060.4):c.1525C>T (p.P509S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645381C>T" "" "VUS" "" "0000272190" "0" "90" "3" "15686958" "15686958" "subst" "0.000153965" "01943" "BTD_000039" "g.15686958C>T" "" "" "" "BTD(NM_000060.4):c.1595C>T (p.T532M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000272191" "0" "90" "3" "15686975" "15686975" "subst" "0" "01943" "BTD_000043" "g.15686975C>T" "" "" "" "BTD(NM_000060.4):c.1612C>T (p.R538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645468C>T" "" "pathogenic" "" "0000272192" "0" "50" "3" "15686976" "15686976" "subst" "0" "01943" "BTD_000143" "g.15686976G>A" "" "" "" "BTD(NM_000060.4):c.1613G>A (p.R538H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15645469G>A" "" "VUS" "" "0000272193" "0" "90" "3" "15677070" "15677070" "subst" "0" "01943" "BTD_000048" "g.15677070G>A" "" "" "" "BTD(NM_000060.4):c.184G>A (p.V62M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15635563G>A" "" "pathogenic" "" "0000272194" "0" "90" "3" "15677121" "15677121" "subst" "0" "01943" "BTD_000052" "g.15677121C>T" "" "" "" "BTD(NM_000060.4):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15635614C>T" "" "pathogenic" "" "0000272195" "0" "30" "3" "15677147" "15677147" "subst" "0.0018453" "01943" "BTD_000121" "g.15677147C>T" "" "" "" "BTD(NM_001323582.1):c.201C>T (p.N67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15635640C>T" "" "likely benign" "" "0000272196" "0" "90" "3" "15683529" "15683529" "subst" "0" "01943" "BTD_000126" "g.15683529C>A" "" "" "" "BTD(NM_000060.4):c.424C>A (p.P142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15642022C>A" "" "pathogenic" "" "0000272197" "0" "90" "3" "15685833" "15685833" "subst" "0.000230663" "01943" "BTD_000073" "g.15685833G>A" "" "" "" "BTD(NM_000060.4):c.470G>A (p.R157H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644326G>A" "" "pathogenic" "" "0000272198" "0" "50" "3" "15685842" "15685842" "subst" "0" "01943" "BTD_000128" "g.15685842G>C" "" "" "" "BTD(NM_000060.4):c.479G>C (p.C160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644335G>C" "" "VUS" "" "0000272199" "0" "90" "3" "15685874" "15685874" "subst" "0.000384438" "01943" "BTD_000076" "g.15685874G>A" "" "" "" "BTD(NM_000060.4):c.511G>A (p.A171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644367G>A" "" "pathogenic" "" "0000272200" "0" "90" "3" "15685920" "15685920" "subst" "0" "01943" "BTD_000080" "g.15685920G>A" "" "" "" "BTD(NM_000060.4):c.557G>A (p.C186Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644413G>A" "" "pathogenic" "" "0000272201" "0" "90" "3" "15685958" "15685958" "subst" "0" "01943" "BTD_000086" "g.15685958G>A" "" "" "" "BTD(NM_000060.4):c.595G>A (p.V199M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644451G>A" "" "pathogenic" "" "0000272202" "0" "90" "3" "15685994" "15685994" "subst" "0.0000768876" "01943" "BTD_000088" "g.15685994C>T" "" "" "" "BTD(NM_000060.4):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644487C>T" "" "pathogenic" "" "0000272203" "0" "50" "3" "15685995" "15685995" "subst" "0" "01943" "BTD_000130" "g.15685995G>A" "" "" "" "BTD(NM_000060.4):c.632G>A (p.R211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644488G>A" "" "VUS" "" "0000272204" "0" "30" "3" "15686008" "15686008" "subst" "0.0074581" "01943" "BTD_000112" "g.15686008C>T" "" "" "" "BTD(NM_000060.4):c.645C>T (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644501C>T" "" "likely benign" "" "0000272205" "0" "50" "3" "15686014" "15686014" "subst" "0" "01943" "BTD_000131" "g.15686014T>A" "" "" "" "BTD(NM_000060.4):c.651T>A (p.F217L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644507T>A" "" "VUS" "" "0000272206" "0" "50" "3" "15686064" "15686064" "subst" "0" "01943" "BTD_000132" "g.15686064C>T" "" "" "" "BTD(NM_000060.4):c.701C>T (p.T234I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644557C>T" "" "VUS" "" "0000272207" "0" "50" "3" "15686085" "15686085" "subst" "0" "01943" "BTD_000133" "g.15686085G>A" "" "" "" "BTD(NM_000060.4):c.722G>A (p.G241D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644578G>A" "" "VUS" "" "0000272208" "0" "50" "3" "15686094" "15686094" "subst" "0" "01943" "BTD_000134" "g.15686094C>T" "" "" "" "BTD(NM_000060.4):c.731C>T (p.T244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644587C>T" "" "VUS" "" "0000272209" "0" "50" "3" "15686258" "15686258" "subst" "0" "01943" "BTD_000000" "g.15686258G>C" "" "" "" "BTD(NM_000060.4):c.895G>C (p.A299P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15644751G>C" "" "VUS" "" "0000518361" "0" "10" "3" "15613292" "15613292" "del" "0" "02330" "BTD_000146" "g.15613292del" "" "" "" "HACL1(NM_012260.4):c.994-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15571785del" "" "benign" "" "0000518362" "0" "90" "3" "15676984" "15676990" "delins" "0" "01943" "BTD_000109" "g.15676984_15676990delinsTCC" "" "" "" "BTD(NM_000060.4):c.98_104delGCGGCTGinsTCC (p.C33Ffs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15635477_15635483delinsTCC" "" "pathogenic" "" "0000518363" "0" "50" "3" "15677019" "15677019" "subst" "0.0111487" "01943" "BTD_000024" "g.15677019G>A" "" "" "" "BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15635512G>A" "" "VUS" "" "0000518364" "0" "10" "3" "15677019" "15677019" "subst" "0.0111487" "02327" "BTD_000024" "g.15677019G>A" "" "" "" "BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15635512G>A" "" "benign" "" "0000518365" "0" "10" "3" "15677019" "15677019" "subst" "0.0111487" "02325" "BTD_000024" "g.15677019G>A" "" "" "" "BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15635512G>A" "" "benign" "" "0000518366" "0" "30" "3" "15677019" "15677019" "subst" "0.0111487" "02326" "BTD_000024" "g.15677019G>A" "" "" "" "BTD(NM_000060.4):c.133G>A (p.G45R), BTD(NM_001281723.2):c.139G>A (p.G47R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15635512G>A" "" "likely benign" "" "0000518367" "0" "50" "3" "15677122" "15677122" "subst" "0" "01943" "BTD_000053" "g.15677122G>A" "" "" "" "BTD(NM_000060.4):c.236G>A (p.R79H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15635615G>A" "" "VUS" "" "0000518369" "0" "30" "3" "15686669" "15686669" "subst" "0" "01804" "BTD_000147" "g.15686669G>A" "" "" "" "BTD(NM_000060.2):c.1306G>A (p.(Glu436Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15645162G>A" "" "likely benign" "" "0000608391" "0" "90" "3" "15645224" "15645224" "subst" "0" "02327" "BTD_000148" "g.15645224A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15603717A>C" "" "pathogenic" "" "0000629454" "3" "90" "3" "15686693" "15686693" "subst" "0.030063" "03544" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "yes" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic (recessive)" "" "0000629497" "3" "90" "3" "15686693" "15686693" "subst" "0.030063" "03544" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "yes" "rs13078881" "0" "" "" "g.15645186G>C" "" "pathogenic (recessive)" "" "0000651110" "1" "50" "3" "15677019" "15677019" "subst" "0.0111487" "03575" "BTD_000024" "g.15677019G>A" "19/2795 individuals" "Faruq 2020, submtted" "" "" "conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; {DB:CLININrs34885143}" "Germline" "" "rs34885143" "0" "" "" "g.15635512G>A" "" "VUS" "" "0000651111" "1" "70" "3" "15686064" "15686064" "subst" "0" "03575" "BTD_000132" "g.15686064C>T" "1/2795 individuals" "Faruq 2020, submtted" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783005}" "Germline" "" "rs587783005" "0" "" "" "g.15644557C>T" "" "likely pathogenic" "" "0000651112" "1" "70" "3" "15686296" "15686296" "del" "0" "03575" "BTD_000150" "g.15686296del" "1/2795 individuals" "Faruq 2020, submtted" "" "" "1 heterozygous, no homozygous; {DB:CLININrs397514395}" "Germline" "" "rs397514395" "0" "" "" "g.15644789del" "" "likely pathogenic" "" "0000651114" "1" "30" "3" "15686534" "15686534" "subst" "0.0179148" "03575" "BTD_000006" "g.15686534C>T" "26/2794 individuals" "Faruq 2020, submtted" "" "" "26 heterozygous; {DB:CLININrs35034250}" "Germline" "" "rs35034250" "0" "" "" "g.15645027C>T" "" "likely benign" "" "0000651115" "1" "70" "3" "15686693" "15686693" "subst" "0.030063" "03575" "BTD_000021" "g.15686693G>C" "182/2794 individuals" "Faruq 2020, submtted" "" "" "182 heterozygous; {DB:CLININrs13078881}" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "likely pathogenic" "" "0000651116" "1" "90" "3" "15686958" "15686958" "subst" "0.000153965" "03575" "BTD_000039" "g.15686958C>T" "1/2795 individuals" "Faruq 2020, submtted" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104893688}" "Germline" "" "rs104893688" "0" "" "" "g.15645451C>T" "" "pathogenic" "" "0000651117" "1" "70" "3" "15686992" "15686992" "subst" "0.00015706" "03575" "BTD_000151" "g.15686992C>A" "1/2795 individuals" "Faruq 2020, submtted" "" "" "1 heterozygous, no homozygous; {DB:CLININrs146136265}" "Germline" "" "rs146136265" "0" "" "" "g.15645485C>A" "" "likely pathogenic" "" "0000651118" "1" "50" "3" "15687206" "15687206" "subst" "0" "03575" "BTD_000152" "g.15687206G>A" "93/2792 individuals" "Faruq 2020, submtted" "" "" "93 heterozygous; {DB:CLININrs78601074}" "Germline" "" "rs78601074" "0" "" "" "g.15645699G>A" "" "VUS" "" "0000654836" "0" "50" "3" "15685833" "15685833" "subst" "0.000230663" "02327" "BTD_000073" "g.15685833G>A" "" "" "" "BTD(NM_000060.4):c.470G>A (p.R157H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15644326G>A" "" "VUS" "" "0000654837" "0" "50" "3" "15685948" "15685948" "subst" "0" "02327" "BTD_000153" "g.15685948C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15644441C>G" "" "VUS" "" "0000669747" "3" "50" "3" "15686331" "15686331" "subst" "0" "03575" "BTD_000108" "g.15686331A>G" "3/2793 individuals" "Faruq 2020, submtted" "" "" "3 homozygous; {DB:CLININrs397507176}" "Germline" "" "rs397507176" "0" "" "" "g.15644824A>G" "" "VUS" "" "0000669748" "3" "30" "3" "15686534" "15686534" "subst" "0.0179148" "03575" "BTD_000006" "g.15686534C>T" "1/2794 individuals" "Faruq 2020, submtted" "" "" "1 homozygous; {DB:CLININrs35034250}" "Germline" "" "rs35034250" "0" "" "" "g.15645027C>T" "" "likely benign" "" "0000669749" "3" "70" "3" "15686693" "15686693" "subst" "0.030063" "03575" "BTD_000021" "g.15686693G>C" "7/2794 individuals" "Faruq 2020, submtted" "" "" "7 homozygous; {DB:CLININrs13078881}" "Germline" "" "rs13078881" "0" "" "" "g.15645186G>C" "" "likely pathogenic" "" "0000669750" "3" "50" "3" "15687206" "15687206" "subst" "0" "03575" "BTD_000152" "g.15687206G>A" "1/2792 individuals" "Faruq 2020, submtted" "" "" "1 homozygous; {DB:CLININrs78601074}" "Germline" "" "rs78601074" "0" "" "" "g.15645699G>A" "" "VUS" "" "0000676865" "0" "90" "3" "15685874" "15685874" "subst" "0.000384438" "02327" "BTD_000076" "g.15685874G>A" "" "" "" "BTD(NM_000060.4):c.511G>A (p.A171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "" "" "0000676866" "0" "50" "3" "15686027" "15686027" "subst" "0.0000768876" "02327" "BTD_000154" "g.15686027G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "" "" ## 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 BTD ## Count = 364 "{{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}}" "0000000908" "00000126" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000000909" "00000126" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000000910" "00000126" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000000911" "00000126" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000000912" "00000126" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000000913" "00000126" "50" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000000915" "00000126" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000000916" "00000126" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000000917" "00000126" "90" "1052" "0" "1052" "0" "c.1052del" "r.(?)" "p.(Thr351Lysfs*12)" "4" "0000000918" "00000126" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "0000000919" "00000126" "50" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "0000172021" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172022" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172023" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172024" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172025" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172026" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172027" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172028" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172029" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172030" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172031" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172032" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172033" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172034" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172035" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172036" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172037" "00000126" "11" "0" "0" "0" "0" "c.=" "r.(?)" "p.(=)" "1_4" "0000172038" "00000126" "55" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(=)" "2" "0000172039" "00000126" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_4" "0000172040" "00000126" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_4" "0000172041" "00000126" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_4" "0000172042" "00000126" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1_4" "0000172043" "00000126" "99" "98" "0" "104" "0" "c.98_104delinsTCC" "r.(?)" "p.(Cys33Phefs*36)" "2" "0000172044" "00000126" "55" "98" "0" "104" "0" "c.98_104delinsTCC" "r.(?)" "p.(Cys33Phefs*36)" "2" "0000172045" "00000126" "95" "98" "0" "104" "0" "c.98_104delinsTCC" "r.(?)" "p.(Cys33Phefs*36)" "2" "0000172046" "00000126" "99" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Gly34Ser)" "2" "0000172047" "00000126" "55" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "2" "0000172048" "00000126" "55" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "2" "0000172049" "00000126" "90" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "2" "0000172050" "00000126" "90" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Glu46*)" "2" "0000172051" "00000126" "75" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" 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"p.(Arg538Ser)" "" "0000272176" "00000126" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Gly34Ser)" "" "0000272177" "00000126" "30" "1062" "0" "1062" "0" "c.1062G>A" "r.(?)" "p.(Thr354=)" "" "0000272178" "00000126" "90" "1090" "0" "1090" "0" "c.1090dup" "r.(?)" "p.(Ile364AsnfsTer9)" "" "0000272179" "00000126" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(Gly367=)" "" "0000272180" "00000126" "50" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Cys418Arg)" "" "0000272181" "00000126" "90" "1264" "0" "1264" "0" "c.1264dup" "r.(?)" "p.(Leu422ProfsTer23)" "" "0000272182" "00000126" "90" "1267" "0" "1267" "0" "c.1267T>C" "r.(?)" "p.(Cys423Arg)" "" "0000272183" "00000126" "10" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Tyr428=)" "" "0000272184" "00000126" "10" "1413" "0" "1413" "0" "c.1413T>C" "r.(?)" "p.(Cys471=)" "" "0000272185" "00000126" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Arg)" "" "0000272186" "00000126" "50" "1432" "0" "1432" "0" "c.1432G>C" "r.(?)" "p.(Ala478Pro)" "" "0000272187" "00000126" "30" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Gly480Glu)" "" "0000272188" "00000126" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Pro497Ser)" "" "0000272189" "00000126" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Pro509Ser)" "" "0000272190" "00000126" "90" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "" "0000272191" "00000126" "90" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "" "0000272192" "00000126" "50" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Arg538His)" "" "0000272193" "00000126" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Met)" "" "0000272194" "00000126" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "0000272195" "00000126" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(Asn87=)" "" "0000272196" "00000126" "90" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Pro142Thr)" "" "0000272197" "00000126" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000272198" "00000126" "50" "479" "0" "479" "0" "c.479G>C" "r.(?)" "p.(Cys160Ser)" "" "0000272199" "00000126" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000272200" "00000126" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Cys186Tyr)" "" "0000272201" "00000126" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "0000272202" "00000126" "90" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "0000272203" "00000126" "50" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211His)" "" "0000272204" "00000126" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(Leu215=)" "" "0000272205" "00000126" "50" "651" "0" "651" "0" "c.651T>A" "r.(?)" "p.(Phe217Leu)" "" "0000272206" "00000126" "50" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Thr234Ile)" "" "0000272207" "00000126" "50" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Gly241Asp)" "" "0000272208" "00000126" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Ile)" "" "0000272209" "00000126" "50" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Ala299Pro)" "" "0000518361" "00000126" "10" "-30066" "0" "-30066" "0" "c.-30066del" "r.(?)" "p.(=)" "" "0000518362" "00000126" "90" "98" "0" "104" "0" "c.98_104delinsTCC" "r.(?)" "p.(Cys33PhefsTer36)" "" "0000518363" "00000126" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000518364" "00000126" "10" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000518365" "00000126" "10" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000518366" "00000126" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000518367" "00000126" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79His)" "" "0000518369" "00000126" "30" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Glu436Lys)" "" "0000608391" "00000126" "90" "44" "1823" "44" "1823" "c.44+1823A>C" "r.(=)" "p.(=)" "" "0000629454" "00000126" "90" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "0000629497" "00000126" "90" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "0000651110" "00000126" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "0000651111" "00000126" "70" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Thr234Ile)" "" "0000651112" "00000126" "70" "933" "0" "933" "0" "c.933del" "r.(?)" "p.(Ser311Argfs*23)" "" "0000651114" "00000126" "30" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "0000651115" "00000126" "70" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000651116" "00000126" "90" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "" "0000651117" "00000126" "70" "1629" "0" "1629" "0" "c.1629C>A" "r.(?)" "p.(Asp543Glu)" "" "0000651118" "00000126" "50" "1843" "0" "1843" "0" "c.*211G>A" "r.(=)" "p.(=)" "" "0000654836" "00000126" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "0000654837" "00000126" "50" "585" "0" "585" "0" "c.585C>G" "r.(?)" "p.(Asn195Lys)" "" "0000669747" "00000126" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(His323Arg)" "" "0000669748" "00000126" "30" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "0000669749" "00000126" "70" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "" "0000669750" "00000126" "50" "1843" "0" "1843" "0" "c.*211G>A" "r.(=)" "p.(=)" "" "0000676865" "00000126" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000676866" "00000126" "50" "664" "0" "664" "0" "c.664G>A" "r.(?)" "p.(Asp222Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 296 "{{screeningid}}" "{{variantid}}" "0000000010" "0000000908" "0000000021" "0000000909" "0000000028" "0000000916" "0000000056" "0000000913" "0000000061" "0000000911" "0000000086" "0000000917" "0000000087" "0000000919" "0000000089" "0000000912" "0000000094" "0000000910" "0000000096" "0000000918" "0000000107" "0000000915" "0000106415" "0000172028" "0000106415" "0000172112" "0000106416" "0000172024" "0000106417" "0000172034" "0000106417" "0000172147" "0000106418" "0000172025" "0000106419" "0000172026" "0000106420" "0000172035" "0000106421" "0000172036" "0000106421" "0000172212" "0000106422" "0000172027" "0000106423" "0000172037" "0000106423" "0000172275" "0000106424" "0000172029" "0000106424" "0000172183" "0000106425" "0000172030" "0000106425" "0000172184" "0000106426" "0000172031" "0000106426" "0000172273" "0000106427" "0000172021" "0000106428" "0000172022" "0000106429" "0000172023" 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