### LOVD-version 3000-220 ### 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}}" "{{allow_index_wiki}}" "{{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" "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" "00006" "2019-06-28 13:44:27" ## 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 = 3 "{{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" "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 = 201 "{{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 1997:09396567}" "" "?" "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" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 192 "{{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" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01941, 05378 ## Count = 87 "{{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%" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 201 "{{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" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000106415" "00105944" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106416" "00105945" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106417" "00105946" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106418" "00105947" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106419" "00105948" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106420" "00105949" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106421" "00105950" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106422" "00105951" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" 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"" "" "0000106565" "00106094" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106566" "00106095" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106567" "00106096" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106568" "00106097" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106569" "00106098" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106570" "00106099" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106571" "00106100" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106572" "00106101" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106573" "00106102" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106574" "00106103" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106575" "00106104" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106576" "00106105" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106577" "00106106" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106578" "00106107" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106579" "00106108" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106580" "00106109" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106581" "00106110" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106582" "00106111" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106583" "00106112" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106584" "00106113" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106585" "00106114" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106586" "00106115" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106587" "00106116" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106588" "00106117" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106589" "00106118" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106590" "00106119" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106591" "00106120" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106592" "00106121" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106593" "00106122" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106594" "00106123" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106595" "00106124" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106596" "00106125" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106597" "00106126" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106598" "00106127" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106599" "00106128" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "0000106600" "00106129" "0" "01903" "01903" "2016-05-04 15:17:00" "" "" "SEQ" "DNA" "" "" "0000106601" "00106130" "0" "01903" "01903" "2016-04-29 11:56:00" "01903" "2016-05-04 15:12:00" "SEQ" "DNA" "" "" "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" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 315 "{{screeningid}}" "{{geneid}}" "0000000010" "ACADM" "0000000010" "ATP7B" "0000000010" "BTD" "0000000010" "CLN3" "0000000010" "CPT1A" "0000000010" "DGUOK" "0000000010" "ERCC6" "0000000010" "ETFB" "0000000010" "NHLRC1" "0000000010" "PAH" "0000000021" "ALPL" "0000000021" "BTD" "0000000021" "CBS" "0000000021" "DKC1" "0000000021" "ETFB" "0000000021" "GLB1" "0000000021" "SBDS" "0000000021" "SERPINA1" "0000000028" "ALG1" "0000000028" "AMPD1" "0000000028" "ATP7B" "0000000028" "BTD" "0000000028" "CBS" "0000000028" "CLN3" "0000000028" "CYP21A2" "0000000028" "FGG" "0000000028" "GALC" "0000000028" "GLB1" "0000000028" "JAK3" "0000000028" "NPHS1" "0000000028" "RAG2" "0000000028" "RPGRIP1L" "0000000028" "SERPINA1" "0000000028" "SLC26A2" "0000000056" "ACADL" "0000000056" "ADA" "0000000056" "ASPA" "0000000056" "ATP7B" "0000000056" "BTD" "0000000056" "CYP27A1" "0000000056" "DPYD" "0000000056" "ETFB" "0000000056" "GLB1" "0000000056" "HEXB" "0000000056" "IGHMBP2" "0000000056" "NPHS1" "0000000056" "SERPINA1" "0000000056" "SLC26A2" "0000000061" "ADA" "0000000061" "ATP7B" "0000000061" "BTD" "0000000061" "ETFB" "0000000061" "GLB1" "0000000061" "HEXB" "0000000061" "HSPG2" "0000000061" "MTHFR" "0000000061" "POMGNT1" "0000000061" "SERPINA1" "0000000061" "SMPD1" "0000000086" "ARSB" "0000000086" "ATP7B" "0000000086" "BTD" "0000000086" "ETFB" "0000000086" "GLB1" "0000000086" "HEXB" "0000000086" "HPRT1" "0000000086" "IGHMBP2" "0000000086" "NHLRC1" "0000000086" "POLG" "0000000086" "SERPINA1" "0000000086" "SLC26A2" "0000000087" "AHI1" "0000000087" "ATP7B" "0000000087" "BTD" "0000000087" "CYP21A2" "0000000087" "ETFB" "0000000087" "FRAS1" "0000000087" "GLB1" "0000000087" "IGHMBP2" "0000000087" "NHLRC1" "0000000087" "SERPINA1" "0000000087" "SLC26A2" "0000000089" "ATP7B" "0000000089" "BTD" "0000000089" "CFTR" "0000000089" "ETFB" "0000000089" "GALC" "0000000089" "GLB1" "0000000089" "IGHMBP2" "0000000089" "SMPD1" "0000000094" "AHI1" "0000000094" "ARSB" "0000000094" "ATP7B" "0000000094" "BTD" "0000000094" "ENPP1" "0000000094" "ETFB" "0000000094" "GCDH" "0000000094" "GLB1" "0000000094" "INVS" "0000000094" "MYO5A" "0000000094" "NPHS1" "0000000094" "SERPINA1" "0000000094" "SMPD1" "0000000096" "AHI1" "0000000096" "ATP7B" "0000000096" "BTD" "0000000096" "COQ2" "0000000096" "ETFB" "0000000096" "GLB1" "0000000096" "HEXB" "0000000096" "NHLRC1" "0000000096" "SERPINA1" "0000000096" "USH1C" "0000000107" "ADA" "0000000107" "BTD" "0000000107" "CLN3" "0000000107" "CYP21A2" "0000000107" "GLB1" "0000000107" "MEFV" "0000000107" "MYO5A" "0000000107" "NHLRC1" "0000000107" "NPHS1" "0000000107" "SERPINA1" "0000000107" "SLC26A2" "0000000107" "WNT10A" "0000106415" "BTD" "0000106416" "BTD" "0000106417" "BTD" "0000106418" "BTD" "0000106419" "BTD" "0000106420" "BTD" "0000106421" "BTD" "0000106422" "BTD" "0000106423" "BTD" "0000106424" "BTD" "0000106425" "BTD" "0000106426" "BTD" "0000106427" "BTD" "0000106428" "BTD" "0000106429" "BTD" "0000106430" "BTD" "0000106431" "BTD" "0000106432" "BTD" "0000106433" "BTD" "0000106434" "BTD" "0000106435" "BTD" "0000106436" "BTD" "0000106437" "BTD" "0000106438" "BTD" "0000106439" "BTD" "0000106440" "BTD" "0000106441" "BTD" "0000106442" "BTD" "0000106443" "BTD" "0000106444" "BTD" "0000106445" "BTD" "0000106446" "BTD" "0000106447" "BTD" "0000106448" "BTD" "0000106449" "BTD" "0000106450" "BTD" "0000106451" "BTD" "0000106452" "BTD" "0000106453" "BTD" "0000106454" "BTD" "0000106455" "BTD" "0000106456" "BTD" "0000106457" "BTD" "0000106458" "BTD" "0000106459" "BTD" "0000106460" "BTD" "0000106461" "BTD" "0000106462" "BTD" "0000106463" "BTD" "0000106464" "BTD" "0000106465" "BTD" "0000106466" "BTD" "0000106467" "BTD" "0000106468" "BTD" "0000106469" "BTD" "0000106470" "BTD" "0000106471" "BTD" "0000106472" "BTD" "0000106473" "BTD" "0000106474" "BTD" "0000106475" "BTD" "0000106476" "BTD" "0000106477" "BTD" "0000106478" "BTD" "0000106479" "BTD" "0000106480" "BTD" "0000106481" "BTD" "0000106482" "BTD" "0000106483" "BTD" "0000106484" "BTD" "0000106485" "BTD" "0000106486" "BTD" "0000106487" "BTD" "0000106488" "BTD" "0000106489" "BTD" "0000106490" "BTD" "0000106491" "BTD" "0000106492" "BTD" "0000106493" "BTD" "0000106494" "BTD" "0000106495" "BTD" "0000106496" "BTD" "0000106497" "BTD" "0000106498" "BTD" "0000106499" "BTD" "0000106500" "BTD" "0000106501" "BTD" "0000106502" "BTD" "0000106503" "BTD" "0000106504" "BTD" "0000106505" "BTD" "0000106506" "BTD" "0000106507" "BTD" "0000106508" "BTD" "0000106509" "BTD" "0000106510" "BTD" "0000106511" "BTD" "0000106512" "BTD" "0000106513" "BTD" "0000106514" "BTD" "0000106515" "BTD" "0000106516" "BTD" "0000106517" "BTD" "0000106518" "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 = 347 "{{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}}" "0000000908" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000909" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000910" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000911" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000912" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000913" "0" "50" "3" "15686693" "15686693" "subst" "0.030063" "00002" "BTD_000021" "g.15686693G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000915" "0" "50" "3" "15677019" "15677019" "subst" "0.0111487" "00002" "BTD_000024" "g.15677019G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000916" "0" "50" "3" "15677019" "15677019" "subst" "0.0111487" "00002" "BTD_000024" "g.15677019G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000917" "0" "90" "3" "15686415" "15686415" "del" "0" "00002" "BTD_000002" "g.15686415delC" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000000918" "0" "50" "3" "15686534" "15686534" "subst" "0.0179148" "00002" "BTD_000006" "g.15686534C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000000919" "0" "50" "3" "15686534" "15686534" "subst" "0.0179148" "00002" "BTD_000006" "g.15686534C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "0000172021" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172022" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172023" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172024" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172025" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172026" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172027" "1" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172028" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172029" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172030" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172031" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172032" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172033" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172034" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172035" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172036" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172037" "2" "11" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172038" "2" "55" "3" "15677147" "15677147" "subst" "0.0018453" "01903" "BTD_000121" "g.15677147C>T" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172039" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Muhl 2001:11313766}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "0000172040" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Milankovics 2007:17185019}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "0000172041" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Pomponio 1997:09158148}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "0000172042" "1" "90" "3" "" "" "" "" "01903" "BTD_000000" "g.?" "" "{PMID:Pomponio 1997:09396567}" "" "" "unknown variant" "Germline" "" "" "0" "" "" "" "" "0000172043" "1" "99" "3" "15676984" "15676990" "delins" "0" "01903" "BTD_000109" "g.15676984_15676990delinsTCC" "" "{PMID:Wiltink 2016:27329734}" "" "98-104del7ins3" "" "Germline" "" "" "0" "" "" "" "" "0000172044" "0" "55" "3" "15676984" "15676990" "delins" "0" "01903" "BTD_000109" "g.15676984_15676990delinsTCC" "" "" "" "" "" "Germline" "" "rs80338684" "0" "" "" "" "" "0000172045" "1" "95" "3" "15676984" "15676990" "delins" "0" "01903" "BTD_000109" "g.15676984_15676990delinsTCC" "" "{PMID:Pomponio 1995:07550325}, {OMIM609019:0001}" "" "" "" "Germline" "" "rs80338684" "0" "" "" "" "" "0000172046" "1" "99" "3" "15676986" "15676986" "subst" "0" "01903" "BTD_000123" "g.15676986G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172047" "0" "55" "3" "15677019" "15677019" "subst" "0.0111487" "01903" "BTD_000024" "g.15677019G>A" "" "" "" "" "" "Germline" "" "rs34885143" "0" "" "" "" "" "0000172048" "1" "55" "3" "15677019" "15677019" "subst" "0.0111487" "01903" "BTD_000024" "g.15677019G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs34885143" "0" "" "" "" "" "0000172049" "1" "90" "3" "15677019" "15677019" "subst" "0.0111487" "01903" "BTD_000024" "g.15677019G>A" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "rs34885143" "0" "" "" "" "" "0000172050" "1" "90" "3" "15677022" "15677022" "subst" "0" "01903" "BTD_000029" "g.15677022G>T" "" "{PMID:Milankovics 2007:17185019}" "" "" "" "Germline" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000172052" "1" "90" "3" "15677045" "15677045" "subst" "0" "01903" "BTD_000040" "g.15677045C>A" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172053" "1" "90" "3" "15677046" "15677046" "subst" "0" "01903" "BTD_000041" "g.15677046G>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172054" "1" "90" "3" "15677057" "15677057" "subst" "0" "01903" "BTD_000047" "g.15677057T>G" "" "{PMID:Pomponio 2000:10801053}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172055" "1" "90" "3" "15677070" "15677070" "subst" "0" "01903" "BTD_000048" "g.15677070G>A" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172056" "1" "90" "3" "15677070" "15677070" "subst" "0" "01903" "BTD_000049" "g.15677070G>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172057" "1" "90" "3" "15677076" "15677076" "subst" "0" "01903" "BTD_000050" "g.15677076G>A" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172058" "1" "90" "3" "15677098" "15677098" "subst" "0" "01903" "BTD_000051" "g.15677098T>C" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172059" "1" "90" "3" "15677121" "15677121" "subst" "0" "01903" "BTD_000052" "g.15677121C>T" "" "{PMID:Pomponio 2000:10801053}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172060" "1" "90" "3" "15677122" "15677122" "subst" "0" "01903" "BTD_000053" "g.15677122G>A" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172061" "1" "90" "3" "15677131" "15677131" "subst" "0" "01903" "BTD_000054" "g.15677131C>A" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172062" "1" "90" "3" "15677133" "15677141" "del" "0" "01903" "BTD_000055" "g.15677133_15677141del" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172063" "1" "90" "3" "15677148" "15677148" "subst" "0" "01903" "BTD_000056" "g.15677148C>T" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172064" "1" "90" "3" "15677164" "15677164" "subst" "0" "01903" "BTD_000057" "g.15677164A>G" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172065" "1" "90" "3" "15677169" "15677169" "subst" "0" "01903" "BTD_000058" "g.15677169C>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172066" "1" "90" "3" "15677175" "15677175" "subst" "0" "01903" "BTD_000059" "g.15677175G>A" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172067" "1" "90" "3" "15677184" "15677184" "subst" "0" "01903" "BTD_000060" "g.15677184G>A" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172068" "1" "90" "3" "15683415" "15683415" "subst" "0" "01903" "BTD_000061" "g.15683415G>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172069" "1" "90" "3" "15683431" "15683431" "subst" "0" "01903" "BTD_000062" "g.15683431T>G" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172070" "1" "90" "3" "15683439" "15683439" "subst" "0" "01903" "BTD_000063" "g.15683439G>A" "" "{PMID:Laszlo 2003:14707518}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172071" "1" "90" "3" "15683439" "15683439" "subst" "0" "01903" "BTD_000064" "g.15683439G>C" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172072" "1" "90" "3" "15683446" "15683446" "subst" "0.0000768876" "01903" "BTD_000065" "g.15683446G>T" "" "{PMID:Wolf 2005:15776412}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172073" "1" "90" "3" "15683469" "15683469" "subst" "0" "01903" "BTD_000066" "g.15683469A>G" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172074" "1" "99" "3" "15683469" "15683469" "subst" "0" "01903" "BTD_000066" "g.15683469A>G" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172075" "1" "90" "3" "15683487" "15683487" "subst" "0" "01903" "BTD_000067" "g.15683487T>G" "" "{PMID:Swango 1998:09654207}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172076" "1" "90" "3" "15683498" "15683498" "del" "0" "01903" "BTD_000068" "g.15683498delC" "" "{PMID:Wolf 2002:12359137}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172077" "1" "90" "3" "15683550" "15683550" "subst" "0" "01903" "BTD_000069" "g.15683550T>C" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172078" "1" "90" "3" "15683559" "15683559" "subst" "0" "01903" "BTD_000070" "g.15683559A>C" "" "{PMID:Milankovics 2007:17185019}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172079" "2" "55" "3" "15683568" "15683568" "subst" "0" "01903" "BTD_000120" "g.15683568A>G" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172080" "1" "90" "3" "15685829" "15685829" "subst" "0" "01903" "BTD_000071" "g.15685829C>T" "" "{PMID:Pomponio 2000:10801060}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172081" "1" "90" "3" "15685832" "15685832" "subst" "0" "01903" "BTD_000072" "g.15685832C>T" "" "{PMID:Milankovics 2007:17185019}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172082" "1" "90" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Pomponio 1997:09396567}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172083" "1" "99" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172084" "1" "99" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172085" "3" "99" "3" "15685833" "15685833" "subst" "0.000230663" "01903" "BTD_000073" "g.15685833G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172086" "1" "90" "3" "15685848" "15685848" "subst" "0" "01903" "BTD_000074" "g.15685848C>T" "" "{PMID:Norrgard 1999:10400129}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172087" "1" "90" "3" "15685853" "15685854" "del" "0" "01903" "BTD_000075" "g.15685853_15685854delAG" "" "{PMID:Pomponio 2000:10801060}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000172088" "0" "55" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172089" "1" "90" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Norrgard 1997:10206677}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172090" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172091" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172092" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172093" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172094" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172095" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172096" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172097" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172098" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172099" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172100" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172101" "1" "99" "3" "15685874" "15685874" "subst" "0.000384438" "01903" "BTD_000076" "g.15685874G>A" "" "{PMID:Wiltink 2016:27329734}" "" "" "" "Germline" "" "rs13073139" "0" "" "" "" "" "0000172102" "1" "90" "3" "15685878" "15685878" "subst" "0" "01903" "BTD_000077" "g.15685878A>G" "" "{PMID:Muhl 2001:11313766}" "" "" "" "Germline" "" "" "0" "" 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record" "" "" "0" "" "" "" "" "0000272180" "0" "50" "3" "15686615" "15686615" "subst" "0" "02333" "BTD_000117" "g.15686615T>C" "" "" "" "BTD(NM_000060.4):c.1252T>C (p.C418R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272181" "0" "90" "3" "15686627" "15686627" "dup" "0" "02333" "BTD_000138" "g.15686627dup" "" "" "" "BTD(NM_000060.4):c.1264dupC (p.L422Pfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272182" "0" "90" "3" "15686630" "15686630" "subst" "0" "02333" "BTD_000014" "g.15686630T>C" "" "" "" "BTD(NM_000060.4):c.1267T>C (p.C423R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272183" "0" "10" "3" "15686647" "15686647" "subst" "0.0128422" "02333" "BTD_000139" "g.15686647C>T" "" "" "" "BTD(NM_000060.4):c.1284C>T (p.Y428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272184" "0" "10" "3" "15686776" "15686776" "subst" "0.0825773" "02333" "BTD_000140" "g.15686776T>C" "" "" "" "BTD(NM_000060.4):c.1413T>C (p.C471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272185" "0" "50" "3" "15686777" "15686777" "subst" "0" "02333" "BTD_000116" "g.15686777G>A" "" "" "" "BTD(NM_000060.4):c.1414G>A (p.G472R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272186" "0" "50" "3" "15686795" "15686795" "subst" "0" "02333" "BTD_000141" "g.15686795G>C" "" "" "" "BTD(NM_000060.4):c.1432G>C (p.A478P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272187" "0" "30" "3" "15686802" "15686802" "subst" "0" "02333" "BTD_000114" "g.15686802G>A" "" "" "" "BTD(NM_000060.4):c.1439G>A (p.G480E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272188" "0" "90" "3" "15686852" "15686852" "subst" "0.0000768876" "02333" "BTD_000035" "g.15686852C>T" "" "" "" "BTD(NM_000060.4):c.1489C>T (p.P497S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272189" "0" "50" "3" "15686888" "15686888" "subst" "0" "02333" "BTD_000118" "g.15686888C>T" "" "" "" "BTD(NM_000060.4):c.1525C>T (p.P509S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "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" "" "" "" "" "0000272191" "0" "90" "3" "15686975" "15686975" "subst" "0" "02333" "BTD_000043" "g.15686975C>T" "" "" "" "BTD(NM_000060.4):c.1612C>T (p.R538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272192" "0" "50" "3" "15686976" "15686976" "subst" "0" "02333" "BTD_000143" "g.15686976G>A" "" "" "" "BTD(NM_000060.4):c.1613G>A (p.R538H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272193" "0" "90" "3" "15677070" "15677070" "subst" "0" "02333" "BTD_000048" "g.15677070G>A" "" "" "" "BTD(NM_000060.4):c.184G>A (p.V62M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272194" "0" "90" "3" "15677121" "15677121" "subst" "0" "02333" "BTD_000052" "g.15677121C>T" "" "" "" "BTD(NM_000060.4):c.235C>T (p.R79C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272195" "0" "30" "3" "15677147" "15677147" "subst" "0.0018453" "02333" "BTD_000121" "g.15677147C>T" "" "" "" "BTD(NM_000060.4):c.261C>T (p.N87=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272196" "0" "90" "3" "15683529" "15683529" "subst" "0" "02333" "BTD_000126" "g.15683529C>A" "" "" "" "BTD(NM_000060.4):c.424C>A (p.P142T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272197" "0" "90" "3" "15685833" "15685833" "subst" "0.000230663" "02333" "BTD_000073" "g.15685833G>A" "" "" "" "BTD(NM_000060.4):c.470G>A (p.R157H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272198" "0" "50" "3" "15685842" "15685842" "subst" "0" "02333" "BTD_000128" "g.15685842G>C" "" "" "" "BTD(NM_000060.4):c.479G>C (p.C160S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272199" "0" "90" "3" "15685874" "15685874" "subst" "0.000384438" "02333" "BTD_000076" "g.15685874G>A" "" "" "" "BTD(NM_000060.4):c.511G>A (p.A171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272200" "0" "90" "3" "15685920" "15685920" "subst" "0" "02333" "BTD_000080" "g.15685920G>A" "" "" "" "BTD(NM_000060.4):c.557G>A (p.C186Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272201" "0" "90" "3" "15685958" "15685958" "subst" "0" "02333" "BTD_000086" "g.15685958G>A" "" "" "" "BTD(NM_000060.4):c.595G>A (p.V199M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272202" "0" "90" "3" "15685994" "15685994" "subst" "0.0000768876" "02333" "BTD_000088" "g.15685994C>T" "" "" "" "BTD(NM_000060.4):c.631C>T (p.R211C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272203" "0" "50" "3" "15685995" "15685995" "subst" "0" "02333" "BTD_000130" "g.15685995G>A" "" "" "" "BTD(NM_000060.4):c.632G>A (p.R211H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272204" "0" "30" "3" "15686008" "15686008" "subst" "0.0074581" "02333" "BTD_000112" "g.15686008C>T" "" "" "" "BTD(NM_000060.4):c.645C>T (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272205" "0" "50" "3" "15686014" "15686014" "subst" "0" "02333" "BTD_000131" "g.15686014T>A" "" "" "" "BTD(NM_000060.4):c.651T>A (p.F217L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272206" "0" "50" "3" "15686064" "15686064" "subst" "0" "02333" "BTD_000132" "g.15686064C>T" "" "" "" "BTD(NM_000060.4):c.701C>T (p.T234I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272207" "0" "50" "3" "15686085" "15686085" "subst" "0" "02333" "BTD_000133" "g.15686085G>A" "" "" "" "BTD(NM_000060.4):c.722G>A (p.G241D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272208" "0" "50" "3" "15686094" "15686094" "subst" "0" "02333" "BTD_000134" "g.15686094C>T" "" "" "" "BTD(NM_000060.4):c.731C>T (p.T244I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000272209" "0" "50" "3" "15686258" "15686258" "subst" "0" "02333" "BTD_000000" "g.15686258G>C" "" "" "" "BTD(NM_000060.4):c.895G>C (p.A299P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000518361" "0" "10" "3" "15613292" "15613292" "del" "0" "02333" "BTD_000146" "g.15613292del" "" "" "" "HACL1(NM_012260.4):c.994-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000518362" "0" "90" "3" "15676984" "15676990" "delins" "0" "02333" "BTD_000109" "g.15676984_15676990delinsTCC" "" "" "" "BTD(NM_000060.4):c.98_104delGCGGCTGinsTCC (p.C33Ffs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "0000518367" "0" "50" "3" "15677122" "15677122" "subst" "0" "02333" "BTD_000053" "g.15677122G>A" "" "" "" "BTD(NM_000060.4):c.236G>A (p.R79H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000518369" "0" "30" "3" "15686669" "15686669" "subst" "0" "02333" "BTD_000147" "g.15686669G>A" "" "" "" "BTD(NM_000060.2):c.1306G>A (p.(Glu436Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000608391" "0" "90" "3" "15645224" "15645224" "subst" "0" "02333" "chr3_006508" "g.15645224A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000608392" "0" "90" "3" "15686687" "15686687" "subst" "0" "02333" "chr3_006509" "g.15686687G>C" "" "" "" "" "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 = 347 "{{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}}" "{{VariantOnTranscript/Classification}}" "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.1052delC" "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.(?)" "p.(Gly480Glu)" "2" "" "0000172052" "00000126" "90" "159" "0" "159" "0" "c.159C>A" "r.(?)" "p.(His53Gln)" "2" "" "0000172053" "00000126" "90" "160" "0" "160" "0" "c.160G>T" "r.(?)" "p.(Glu54*)" "2" "" "0000172054" "00000126" "90" "171" "0" "171" "0" "c.171T>G" "r.(?)" "p.(Tyr57*)" "2" "" "0000172055" "00000126" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Met)" "2" "" "0000172056" "00000126" "90" "184" "0" "184" "0" "c.184G>T" "r.(?)" "p.(Val62Leu)" "2" "" "0000172057" "00000126" "90" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Glu64Lys)" "2" "" "0000172058" "00000126" "90" "212" "0" "212" "0" "c.212T>C" "r.(?)" "p.(Leu71Pro)" "2" "" "0000172059" "00000126" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "2" "" "0000172060" "00000126" "90" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79His)" "2" "" "0000172061" "00000126" "90" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Ala82Asp)" "2" "" "0000172062" "00000126" "90" "247" "0" "255" "0" "c.247_255del" "r.(?)" "p.(Leu83_Leu85del)" "2" "" "0000172063" "00000126" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Gln88*)" "2" "" "0000172064" "00000126" "90" "278" "0" "278" "0" "c.278A>G" "r.(?)" "p.(Tyr93Cys)" "2" "" "0000172065" "00000126" "90" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Gln95*)" "2" "" "0000172066" "00000126" "90" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Val97Met)" "2" "" "0000172067" "00000126" "90" "298" "0" "298" "0" "c.298G>A" "r.(?)" "p.(Ala100Thr)" "2" "" "0000172068" "00000126" "90" "310" "0" "310" "0" "c.310G>T" "r.spl?" "p.(Asp104Tyr)" "3" "" "0000172069" "00000126" "90" "326" "0" "326" "0" "c.326T>G" "r.(?)" "p.(Val109Gly)" "3" "" "0000172070" "00000126" "90" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Glu112Lys)" "3" "" "0000172071" "00000126" "90" "334" "0" "334" "0" "c.334G>C" "r.(?)" "p.(Glu112Gln)" "3" "" "0000172072" "00000126" "90" "341" "0" "341" "0" "c.341G>T" "r.(?)" "p.(Gly114Val)" "3" "" "0000172073" "00000126" "90" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Arg122Gly)" "3" "" "0000172074" "00000126" "99" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Arg122Gly)" "3" "" "0000172075" "00000126" "90" "382" "0" "382" "0" "c.382T>G" "r.(?)" "p.(Phe128Val)" "3" "" "0000172076" "00000126" "90" "393" "0" "393" "0" "c.393delC" "r.(?)" "p.(Phe131Leufs*28)" "3" "" "0000172077" "00000126" "90" "445" "0" "445" "0" "c.445T>C" "r.(?)" "p.(Phe149Leu)" "3" "" "0000172078" "00000126" "90" "454" "0" "454" "0" "c.454A>C" "r.(?)" "p.(Thr152Pro)" "3" "" "0000172079" "00000126" "55" "459" "4" "459" "4" "c.459+4A>G" "r.spl?" "p.?" "3i" "" "0000172080" "00000126" "90" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Gln156*)" "4" "" "0000172081" "00000126" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157Cys)" "4" "" "0000172082" "00000126" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" 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"p.(Asp444His)" "4" "" "0000172194" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172195" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172196" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172197" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172198" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172199" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172200" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172201" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172202" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172203" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172204" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172205" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172206" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172207" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172208" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172209" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172210" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172211" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172212" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172213" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172214" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172215" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172216" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172217" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172218" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172219" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172220" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172221" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172222" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172223" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172224" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172225" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172226" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172227" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172228" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172229" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172230" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172231" "00000126" "99" "1330" "0" "1330" "0" "c.1330G>C" "r.(?)" "p.(Asp444His)" "4" "" "0000172232" "00000126" "90" "1334" "0" "1334" "0" "c.1334G>T" "r.(?)" "p.(Gly445Val)" "4" "" "0000172233" "00000126" "90" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(His447Tyr)" "4" "" "0000172234" "00000126" "90" "1352" "0" "1352" "0" "c.1352G>A" "r.(?)" "p.(Gly451Asp)" "4" "" "0000172235" "00000126" "90" "1361" "0" "1361" "0" "c.1361A>G" "r.(?)" "p.(Tyr454Cys)" "4" "" "0000172236" "00000126" "90" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172237" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172238" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172239" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172240" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172241" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172242" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172243" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172244" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172245" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172246" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172247" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172248" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172249" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172250" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172251" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172252" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172253" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172254" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172255" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172256" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172257" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172258" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172259" "00000126" "99" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "4" "" "0000172260" "00000126" "90" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Val457Met)" "4" "" "0000172261" "00000126" "90" "1384" "0" "1384" "0" "c.1384delA" "r.(?)" "p.(Arg462Glyfs*39)" "4" "" "0000172262" "00000126" "90" "1388" "0" "1388" "0" "c.1388G>A" "r.(?)" "p.(Cys463Tyr)" "4" "" "0000172263" "00000126" "55" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Arg)" "4" "" "0000172264" "00000126" "90" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Trp487Arg)" "4" "" "0000172265" "00000126" "90" "1463" "0" "1463" "0" "c.1463G>A" "r.(?)" "p.(Gly488Asp)" "4" "" "0000172266" "00000126" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(?)" "p.(Asn489Thr)" "4" "" "0000172267" "00000126" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Pro497Ser)" "4" "" "0000172268" "00000126" "90" "1493" "0" "1493" "0" "c.1493dupT" "r.(?)" "p.(Leu498Phefs*13)" "4" "" "0000172269" "00000126" "90" "1511" "0" "1511" "0" "c.1511T>A" "r.(?)" "p.(Met504Lys)" "4" "" "0000172270" "00000126" "99" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Pro509Ser)" "4" "" "0000172271" "00000126" "90" "1531" "0" "1531" "0" "c.1531C>G" "r.(?)" "p.(Gln511Glu)" "4" "" "0000172272" "00000126" "90" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172273" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172274" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172275" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172276" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172277" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172278" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172279" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172280" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172281" "00000126" "99" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "4" "" "0000172282" "00000126" "90" "1610" "0" "1610" "0" "c.1610G>T" "r.(?)" "p.(Gly537Val)" "4" "" "0000172283" "00000126" "55" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "4" "" "0000172284" "00000126" "95" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "4" "" "0000172285" "00000126" "99" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "4" "" "0000172286" "00000126" "99" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "4" "" "0000172287" "00000126" "99" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "4" "" "0000172288" "00000126" "90" "1616" "0" "1616" "0" "c.1616dupT" "r.(?)" "p.(Leu539Phefs*3)" "4" "" "0000172289" "00000126" "90" "1619" "0" "1619" "0" "c.1619A>G" "r.(?)" "p.(Tyr540Cys)" "4" "" "0000172290" "00000126" "90" "1627" "0" "1627" "0" "c.1627G>C" "r.(?)" "p.(Asp543His)" "4" "" "0000172291" "00000126" "55" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Ala299Pro)" "4" "" "0000172292" "00000126" "99" "1264" "0" "1264" "0" "c.1264dupC" "r.(?)" "p.(Leu422Profs*23)" "4" "" "0000249026" "00000126" "10" "-315" "0" "-315" "0" "c.-315A>G" "r.(?)" "p.(=)" "" "benign" "0000250832" "00000126" "90" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "" "pathogenic" "0000251868" "00000126" "30" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Ile294Val)" "" "likely benign" "0000252657" "00000126" "50" "755" "0" "755" "0" "c.755A>G" "r.(?)" "p.(Asp252Gly)" "" "VUS" "0000255387" "00000126" "90" "1368" "0" "1368" "0" "c.1368A>C" "r.(?)" "p.(Gln456His)" "" "pathogenic" "0000255564" "00000126" "90" "605" "0" "605" "0" "c.605A>T" "r.(?)" "p.(Asn202Ile)" "" "pathogenic" "0000255590" "00000126" "90" "364" "0" "364" "0" "c.364A>G" "r.(?)" "p.(Arg122Gly)" "" "pathogenic" "0000255660" "00000126" "90" "1361" "0" "1361" "0" "c.1361A>G" "r.(?)" "p.(Tyr454Cys)" "" "pathogenic" "0000255909" "00000126" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Glu153Gly)" "" "VUS" "0000256533" "00000126" "50" "454" "0" "454" "0" "c.454A>C" "r.(?)" "p.(Thr152Pro)" "" "VUS" "0000256671" "00000126" "50" "1274" "0" "1274" "0" "c.1274A>G" "r.(?)" "p.(Tyr425Cys)" "" "VUS" "0000256678" "00000126" "50" "1607" "0" "1607" "0" "c.1607A>C" "r.(?)" "p.(Tyr536Ser)" "" "VUS" "0000256698" "00000126" "50" "459" "4" "459" "4" "c.459+4A>G" "r.spl?" "p.?" "" "VUS" "0000263819" "00000126" "10" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "benign" "0000266341" "00000126" "10" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "benign" "0000266342" "00000126" "30" "262" "0" "262" "0" "c.262C>G" "r.(?)" "p.(Gln88Glu)" "" "likely benign" "0000268010" "00000126" "50" "757" "0" "757" "0" "c.757C>A" "r.(?)" "p.(Pro253Thr)" "" "VUS" "0000269390" "00000126" "30" "1171" "0" "1171" "0" "c.1171C>T" "r.(?)" "p.(Pro391Ser)" "" "likely benign" "0000269391" "00000126" "90" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "" "pathogenic" "0000269392" "00000126" "90" "1612" "0" "1612" "0" "c.1612C>A" "r.(?)" "p.(Arg538Ser)" "" "pathogenic" "0000272176" "00000126" "90" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Gly34Ser)" "" "pathogenic" "0000272177" "00000126" "30" "1062" "0" "1062" "0" "c.1062G>A" "r.(?)" "p.(=)" "" "likely benign" "0000272178" "00000126" "90" "1090" "0" "1090" "0" "c.1090dup" "r.(?)" "p.(Ile364Asnfs*9)" "" "pathogenic" "0000272179" "00000126" "30" "1101" "0" "1101" "0" "c.1101C>T" "r.(?)" "p.(=)" "" "likely benign" "0000272180" "00000126" "50" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Cys418Arg)" "" "VUS" "0000272181" "00000126" "90" "1264" "0" "1264" "0" "c.1264dup" "r.(?)" "p.(Leu422Profs*23)" "" "pathogenic" "0000272182" "00000126" "90" "1267" "0" "1267" "0" "c.1267T>C" "r.(?)" "p.(Cys423Arg)" "" "pathogenic" "0000272183" "00000126" "10" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(=)" "" "benign" "0000272184" "00000126" "10" "1413" "0" "1413" "0" "c.1413T>C" "r.(?)" "p.(=)" "" "benign" "0000272185" "00000126" "50" "1414" "0" "1414" "0" "c.1414G>A" "r.(?)" "p.(Gly472Arg)" "" "VUS" "0000272186" "00000126" "50" "1432" "0" "1432" "0" "c.1432G>C" "r.(?)" "p.(Ala478Pro)" "" "VUS" "0000272187" "00000126" "30" "1439" "0" "1439" "0" "c.1439G>A" "r.(?)" "p.(Gly480Glu)" "" "likely benign" "0000272188" "00000126" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Pro497Ser)" "" "pathogenic" "0000272189" "00000126" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Pro509Ser)" "" "VUS" "0000272190" "00000126" "90" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Thr532Met)" "" "pathogenic" "0000272191" "00000126" "90" "1612" "0" "1612" "0" "c.1612C>T" "r.(?)" "p.(Arg538Cys)" "" "pathogenic" "0000272192" "00000126" "50" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Arg538His)" "" "VUS" "0000272193" "00000126" "90" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Met)" "" "pathogenic" "0000272194" "00000126" "90" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Arg79Cys)" "" "pathogenic" "0000272195" "00000126" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(=)" "" "likely benign" "0000272196" "00000126" "90" "424" "0" "424" "0" "c.424C>A" "r.(?)" "p.(Pro142Thr)" "" "pathogenic" "0000272197" "00000126" "90" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157His)" "" "pathogenic" "0000272198" "00000126" "50" "479" "0" "479" "0" "c.479G>C" "r.(?)" "p.(Cys160Ser)" "" "VUS" "0000272199" "00000126" "90" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "pathogenic" "0000272200" "00000126" "90" "557" "0" "557" "0" "c.557G>A" "r.(?)" "p.(Cys186Tyr)" "" "pathogenic" "0000272201" "00000126" "90" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Val199Met)" "" "pathogenic" "0000272202" "00000126" "90" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Arg211Cys)" "" "pathogenic" "0000272203" "00000126" "50" "632" "0" "632" "0" "c.632G>A" "r.(?)" "p.(Arg211His)" "" "VUS" "0000272204" "00000126" "30" "645" "0" "645" "0" "c.645C>T" "r.(?)" "p.(=)" "" "likely benign" "0000272205" "00000126" "50" "651" "0" "651" "0" "c.651T>A" "r.(?)" "p.(Phe217Leu)" "" "VUS" "0000272206" "00000126" "50" "701" "0" "701" "0" "c.701C>T" "r.(?)" "p.(Thr234Ile)" "" "VUS" "0000272207" "00000126" "50" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Gly241Asp)" "" "VUS" "0000272208" "00000126" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Thr244Ile)" "" "VUS" "0000272209" "00000126" "50" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Ala299Pro)" "" "VUS" "0000518361" "00000126" "10" "-30066" "0" "-30066" "0" "c.-30066del" "r.(?)" "p.(=)" "" "benign" "0000518362" "00000126" "90" "98" "0" "104" "0" "c.98_104delinsTCC" "r.(?)" "p.(Cys33Phefs*36)" "" "pathogenic" "0000518363" "00000126" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "VUS" "0000518364" "00000126" "10" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "benign" "0000518365" "00000126" "10" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "benign" "0000518366" "00000126" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Gly45Arg)" "" "likely benign" "0000518367" "00000126" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Arg79His)" "" "VUS" "0000518369" "00000126" "30" "1306" "0" "1306" "0" "c.1306G>A" "r.(?)" "p.(Glu436Lys)" "" "likely benign" "0000608391" "00000126" "90" "44" "1823" "44" "1823" "c.44+1823A>C" "r.(=)" "p.(=)" "" "pathogenic" "0000608392" "00000126" "90" "1324" "0" "1324" "0" "c.1324G>C" "r.(?)" "p.(Val442Leu)" "" "pathogenic" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 282 "{{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" "0000106430" "0000172032" "0000106430" "0000172195" "0000106431" "0000172033" "0000106431" "0000172096" "0000106431" "0000172177" "0000106432" "0000172039" "0000106433" "0000172040" "0000106434" "0000172041" "0000106435" "0000172042" "0000106436" "0000172044" "0000106436" "0000172047" "0000106436" "0000172088" "0000106436" "0000172126" "0000106436" "0000172151" "0000106436" "0000172168" "0000106436" "0000172283" "0000106437" "0000172045" "0000106438" "0000172049" "0000106439" "0000172050" "0000106440" "0000172052" "0000106441" "0000172053" "0000106442" "0000172054" "0000106443" "0000172055" "0000106444" "0000172056" "0000106445" "0000172057" "0000106446" "0000172058" "0000106447" "0000172059" "0000106448" "0000172060" "0000106449" "0000172061" "0000106450" "0000172062" "0000106451" "0000172063" "0000106452" "0000172064" "0000106453" "0000172065" "0000106454" "0000172066" "0000106455" "0000172067" "0000106456" "0000172068" "0000106457" "0000172069" "0000106458" "0000172070" "0000106459" "0000172071" "0000106460" "0000172072" "0000106461" "0000172073" "0000106462" "0000172075" "0000106463" "0000172076" "0000106464" "0000172077" "0000106465" "0000172078" "0000106466" "0000172080" "0000106467" "0000172081" "0000106468" "0000172082" "0000106469" "0000172086" "0000106470" "0000172087" "0000106471" "0000172089" "0000106472" "0000172102" "0000106473" "0000172103" "0000106474" "0000172104" "0000106475" "0000172105" "0000106476" "0000172106" "0000106477" "0000172107" "0000106478" "0000172108" "0000106479" "0000172110" "0000106480" "0000172109" "0000106481" "0000172111" "0000106482" "0000172114" "0000106483" "0000172115" "0000106484" "0000172118" "0000106485" "0000172119" "0000106486" "0000172122" "0000106487" "0000172123" "0000106488" "0000172124" "0000106489" "0000172125" "0000106490" "0000172127" "0000106491" "0000172128" "0000106492" "0000172129" "0000106493" "0000172130" "0000106494" "0000172131" "0000106495" "0000172132" "0000106496" "0000172133" "0000106497" "0000172134" "0000106498" "0000172135" "0000106499" "0000172136" "0000106500" "0000172137" "0000106501" "0000172138" "0000106502" "0000172139" "0000106503" "0000172140" "0000106504" "0000172142" "0000106505" "0000172143" "0000106506" "0000172148" "0000106507" "0000172149" "0000106508" "0000172150" "0000106509" "0000172152" "0000106510" "0000172153" "0000106511" "0000172154" "0000106512" "0000172155" "0000106513" "0000172156" "0000106514" "0000172157" "0000106515" "0000172158" "0000106516" "0000172160" "0000106517" "0000172161" "0000106518" "0000172162" "0000106519" "0000172163" "0000106520" "0000172164" "0000106521" "0000172165" "0000106522" "0000172166" "0000106523" "0000172167" "0000106524" "0000172169" "0000106525" "0000172232" "0000106526" "0000172233" "0000106527" "0000172234" "0000106528" "0000172235" "0000106529" "0000172236" "0000106530" "0000172260" "0000106531" "0000172261" "0000106532" "0000172262" "0000106533" "0000172264" "0000106534" "0000172265" "0000106535" "0000172266" "0000106536" "0000172267" "0000106537" "0000172268" "0000106538" "0000172269" "0000106539" "0000172271" "0000106540" "0000172272" "0000106541" "0000172282" "0000106542" "0000172284" "0000106543" "0000172288" "0000106544" "0000172289" "0000106545" "0000172290" "0000106546" "0000172043" "0000106546" "0000172213" "0000106547" "0000172048" "0000106547" "0000172238" "0000106548" "0000172051" "0000106548" "0000172083" "0000106549" "0000172038" "0000106549" "0000172141" "0000106549" "0000172291" "0000106550" "0000172074" "0000106550" "0000172214" "0000106551" "0000172079" "0000106551" "0000172285" "0000106552" "0000172046" "0000106552" "0000172215" "0000106553" "0000172084" "0000106553" "0000172216" "0000106554" "0000172085" "0000106555" "0000172113" "0000106555" "0000172185" "0000106556" "0000172116" "0000106556" "0000172217" "0000106557" "0000172117" "0000106557" "0000172186" "0000106558" "0000172120" "0000106558" "0000172239" "0000106559" "0000172121" "0000106559" "0000172187" "0000106561" "0000172145" "0000106561" "0000172188" "0000106562" "0000172146" "0000106562" "0000172189" "0000106563" "0000172159" "0000106563" "0000172276" "0000106564" "0000172170" "0000106564" "0000172218" "0000106564" "0000172292" "0000106565" "0000172190" "0000106565" "0000172240" "0000106566" "0000172191" "0000106566" "0000172241" "0000106567" "0000172192" "0000106567" "0000172242" "0000106568" "0000172219" "0000106568" "0000172274" "0000106569" "0000172090" "0000106569" "0000172171" "0000106569" "0000172220" "0000106570" "0000172091" "0000106570" "0000172172" "0000106570" "0000172221" "0000106571" "0000172092" "0000106571" "0000172173" "0000106571" "0000172222" "0000106572" "0000172193" "0000106572" "0000172243" "0000106573" "0000172194" "0000106573" "0000172244" "0000106574" "0000172196" "0000106574" "0000172277" "0000106575" "0000172197" "0000106575" "0000172245" "0000106576" "0000172093" "0000106576" "0000172174" "0000106576" "0000172223" "0000106577" "0000172198" "0000106577" "0000172246" "0000106578" "0000172199" "0000106578" "0000172247" "0000106579" "0000172224" "0000106579" "0000172237" "0000106580" "0000172200" "0000106580" "0000172286" "0000106581" "0000172201" "0000106581" "0000172278" "0000106582" "0000172094" "0000106582" "0000172175" "0000106582" "0000172225" "0000106583" "0000172095" "0000106583" "0000172176" "0000106583" "0000172226" "0000106584" "0000172202" "0000106584" "0000172279" "0000106585" "0000172230" "0000106586" "0000172203" "0000106586" "0000172248" "0000106587" "0000172097" "0000106587" "0000172178" "0000106587" "0000172227" "0000106588" "0000172204" "0000106588" "0000172249" "0000106589" "0000172205" "0000106589" "0000172280" "0000106590" "0000172231" "0000106591" "0000172206" "0000106591" "0000172250" "0000106592" "0000172207" "0000106592" "0000172251" "0000106593" "0000172208" "0000106593" "0000172252" "0000106594" "0000172209" "0000106594" "0000172287" "0000106595" "0000172210" "0000106595" "0000172253" "0000106596" "0000172211" "0000106596" "0000172254" "0000106597" "0000172098" "0000106597" "0000172179" "0000106597" "0000172228" "0000106598" "0000172099" "0000106598" "0000172180" "0000106598" "0000172229" "0000106599" "0000172100" "0000106599" "0000172181" "0000106599" "0000172263" "0000106600" "0000172101" "0000106600" "0000172182" "0000106600" "0000172255" "0000106601" "0000172256" "0000106602" "0000172257" "0000106603" "0000172258" "0000106604" "0000172259" "0000106605" "0000172270" "0000106605" "0000172281"