### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DAG1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "DAG1" "dystroglycan 1 (dystrophin-associated glycoprotein 1)" "3" "p21" "unknown" "NG_013230.3" "UD_134408364723" "" "https://www.LOVD.nl/DAG1" "" "1" "2666" "1605" "128239" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/DAG1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2008-08-26 00:00:00" "00006" "2019-01-20 14:58:58" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00006081" "DAG1" "transcript variant 1" "007" "NM_001165928.3" "" "NP_001159400.2" "" "" "" "-779" "5107" "2688" "49507565" "49573051" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "03445" "MDDGC9;LGMDR16;LGMD2P" "dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C9 (LGMDR16, LGMD2P)" "AR" "613818" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-12 21:36:55" "04235" "FSHD" "dystrophy, muscular, facioscapulohumeral (FSHD)" "" "" "" "" "" "00006" "2015-04-04 18:14:08" "" "" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "04436" "MDDGA9" "dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A9" "AR" "616538" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2024-01-12 21:35:59" "05105" "IBM" "myopathy, inclusion body (IBM)" "" "" "" "" "" "00006" "2015-12-08 01:36:43" "" "" "05117" "MDDG" "dystrophy, muscular, dystroglycanopathy (MDDG)" "" "" "" "" "" "00006" "2016-01-11 01:55:59" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DAG1" "03445" "DAG1" "04436" ## Individuals ## Do not remove or alter this header ## ## Count = 110 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00183264" "" "" "" "1" "" "00006" "Lazar ASHG2018 P1192" "" "F" "no" "Brazil" "" "0" "" "" "" "ASHG2018-P1192" "00205399" "" "" "" "1" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205400" "" "" "" "1" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205401" "" "" "" "1" "" "00006" "{PMID:Gupta 2011:21296866}" "" "" "" "" "" "0" "" "" "" "" "00205402" "" "" "" "1" "" "00006" "{PMID:Lin 2011:21317159}" "" "" "" "" "" "0" "" "" "" "" "00205403" "" "" "" "1" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205404" "" "" "" "20" "" "00006" "{PMID:lbraghimov-Beskrovnaya 1993:8281174}" "" "" "" "United States" "" "0" "" "" "" "" "00205405" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "(United States)" "" "0" "" "" "Iran;Jewish" "" "00205406" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "(United States)" "" "0" "" "" "Iran;Jewish" "" "00205407" "" "" "" "1" "" "00006" "{PMID:Dincer 2003:14678799}-Case 2" "parents unaffected carriers" "F" "" "Turkey" "" "0" "" "" "" "" "00205408" "" "" "" "1" "" "00006" "{PMID:Frost 2010:20234391}" "variant not in parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00205409" "" "" "" "17" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205410" "" "" "" "13" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205411" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "United States" "" "0" "" "" "" "" "00205412" "" "" "" "15" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205413" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "United States" "" "0" "" "" "" "" "00205414" "" "" "" "3" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205415" "" "" "" "21" "" "00006" "{PMID:Concolino 2007:17196572}" "" "" "" "Italy" "" "0" "" "" "" "" "00205416" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "United States" "" "0" "" "" "" "" "00205417" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "United States" "" "0" "" "" "" "" "00205418" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "(United States)" "" "0" "" "" "Iran;Jewish" "" "00205419" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "(United States)" "" "0" "" "" "Iran;Jewish" "" "00205420" "" "" "" "1" "" "00006" "{PMID:Gotlieb 2005:16112887}" "" "" "" "(United States)" "" "0" "" "" "Iran;Jewish" "" "00205421" "" "" "" "1" "" "00006" "{PMID:Hara 2011:21388311}" "heterozygotes unaffected" "" "" "" "" "0" "" "" "" "" "00219508" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219522" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219608" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219751" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219779" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219786" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219894" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219917" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219922" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219927" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00219931" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220024" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220053" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220067" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220172" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220207" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220278" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220321" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220333" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220434" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220448" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220504" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220659" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220662" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220689" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220698" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220729" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220841" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220881" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220955" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00220963" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221003" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221038" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221042" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221043" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221058" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221215" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221221" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221225" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221227" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221237" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221274" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221297" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221325" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221405" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221466" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221507" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221611" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221627" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221635" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221697" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221786" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221802" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221832" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221856" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221907" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221926" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221929" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00221981" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222032" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222036" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222148" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222282" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222408" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222415" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222432" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222456" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222469" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222497" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222527" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222528" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222549" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222660" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00265467" "" "" "" "1" "" "00006" "{PMID:Özyilmaz 2019:31066050}" "" "F" "" "Turkey" "" "0" "" "" "" "Pat23" "00265468" "" "" "" "1" "" "00006" "{PMID:Özyilmaz 2019:31066050}" "" "M" "" "Turkey" "" "0" "" "" "" "Pat28" "00293430" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308700" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00390626" "" "" "" "1" "" "00006" "{PMID:Song 2021:33200426}" "" "M" "" "China" "" "0" "" "" "" "Pat143" "00398986" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P4" "00435357" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "DAG1_1" "00435358" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "DAG1_2" "00435359" "" "" "" "1" "" "03565" "" "" "" "" "" "" "0" "" "" "" "DAG1_3" "00435360" "" "" "" "1" "" "03565" "" "" "" "" "" "" "0" "" "" "" "DAG1_4" "00435361" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "DAG1_5" "00435362" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "DAG1_6" "00435363" "" "" "" "1" "" "03565" "" "" "" "" "" "" "" "" "" "" "DAG1_7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 111 "{{individualid}}" "{{diseaseid}}" "00183264" "04235" "00205399" "00000" "00205400" "00000" "00205401" "00198" "00205402" "00198" "00205403" "00000" "00205404" "00000" "00205405" "05105" "00205406" "05105" "00205407" "05126" "00205408" "00244" "00205409" "00198" "00205410" "00000" "00205411" "00000" "00205412" "00000" "00205413" "00000" "00205414" "00000" "00205415" "00000" "00205416" "00000" "00205417" "00000" "00205418" "05105" "00205419" "05105" "00205420" "05105" "00205421" "05121" "00219508" "05126" "00219522" "05126" "00219608" "05126" "00219751" "04327" "00219751" "05126" "00219779" "05126" "00219786" "05126" "00219894" "05126" "00219917" "05126" "00219922" "05126" "00219927" "05126" "00219931" "05126" "00220024" "05126" "00220053" "05126" "00220067" "05126" "00220172" "05126" "00220207" "05126" "00220278" "05126" "00220321" "05126" "00220333" "05126" "00220434" "05126" "00220448" "05126" "00220504" "05126" "00220659" "05126" "00220662" "05126" "00220689" "05126" "00220698" "05126" "00220729" "05126" "00220841" "05126" "00220881" "05126" "00220955" "05126" "00220963" "05126" "00221003" "05126" "00221038" "05126" "00221042" "05126" "00221043" "05126" "00221058" "05126" "00221215" "05126" "00221221" "05126" "00221225" "05126" "00221227" "05126" "00221237" "05126" "00221274" "05126" "00221297" "05126" "00221325" "05126" "00221405" "05126" "00221466" "05126" "00221507" "05126" "00221611" "05126" "00221627" "05126" "00221635" "05126" "00221697" "05126" "00221786" "05126" "00221802" "05126" "00221832" "05126" "00221856" "05126" "00221907" "05126" "00221926" "05126" "00221929" "05126" "00221981" "05126" "00222032" "05126" "00222036" "05126" "00222148" "05126" "00222282" "05126" "00222408" "05126" "00222415" "05126" "00222432" "05126" "00222456" "05126" "00222469" "05126" "00222497" "05126" "00222527" "05126" "00222528" "05126" "00222549" "05126" "00222660" "05126" "00265467" "05126" "00265468" "05126" "00293430" "00198" "00308700" "00000" "00390626" "05117" "00398986" "05618" "00435357" "00198" "00435358" "00198" "00435359" "00198" "00435360" "00198" "00435361" "00198" "00435362" "00198" "00435363" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 03445, 04235, 04327, 04436, 05105, 05117, 05121, 05126, 05618 ## Count = 35 "{{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}}" "0000143993" "04235" "00183264" "00006" "Unknown" "43y" "..., muscle weakness, proximal tetraparesis, EMG myopathic" "" "" "" "" "" "" "" "" "" "FSHD-1 in relatives" "" "0000153583" "00000" "00205399" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153584" "00000" "00205400" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153585" "00198" "00205401" "00006" "Familial, autosomal recessive" "" "impaired motility behaviour" "" "" "" "DAG1 absent" "" "" "" "" "" "zebra fish patchytail" "" "0000153586" "00198" "00205402" "00006" "Familial, autosomal recessive" "" "dystrophy, muscular, severe" "2d" "" "" "IHC/WB no DAG1" "" "" "" "" "" "zebrafish" "" "0000153587" "00000" "00205403" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153588" "00000" "00205404" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153589" "05105" "00205405" "00006" "Familial, autosomal recessive" "" "walks" "24y" "" "" "" "" "" "" "" "" "hereditary inclusion body myopathy" "" "0000153590" "05105" "00205406" "00006" "Familial, autosomal recessive" "" "48y-lost ability to walk (HP:0006957)" "26y" "" "" "" "" "" "" "" "" "hereditary inclusion body myopathy" "" "0000153591" "05126" "00205407" "00006" "Isolated (sporadic)" "" "mild dystrophy, calf hypertrophy, Achilles tendon contractures; cognitive impairment; elevated serum creatine phosphokinase (HP:0003236) 20x; walk 3y, still walking >16y" "3y" "" "" "DAG1 hypoglycosylated" "" "" "" "" "" "limb-girdle muscular dystrophy; mental retardation" "" "0000153592" "00244" "00205408" "00006" "Unknown" "" "mild myopathy, sever learning difficulties, facial hypotonia, oral-motor dyspraxia, subcortical white matter anomalies; muscle nonspecific abnormal findings, some atrophic fibres/type 1 fibre predominance; small amount fibre regeneration (occasional staining neonatal myosin); elevated serum creatine phosphokinase (HP:0003236) ; still walking >16y" "" "" "" "IHC normal DAG1, UTRN, LAMA2, LAMA5, SGCA, SGCB, SGCD, SGCG" "" "" "" "" "" "myopathy" "" "0000153593" "00198" "00205409" "00006" "Unknown" "" "bronchopulmonary dysplasia in premature newborns, association" "" "" "" "" "" "" "" "" "" "" "" "0000153594" "00000" "00205410" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153595" "00000" "00205411" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153596" "00000" "00205412" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153597" "00000" "00205413" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153598" "00000" "00205414" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153599" "00000" "00205415" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153600" "00000" "00205416" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153601" "00000" "00205417" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153602" "05105" "00205418" "00006" "Familial, autosomal recessive" "" "walks" "22y" "" "" "" "" "" "" "" "" "hereditary inclusion body myopathy" "" "0000153603" "05105" "00205419" "00006" "Familial, autosomal recessive" "" "35y-lost ability to walk (HP:0006957)" "24y" "" "" "" "" "" "" "" "" "hereditary inclusion body myopathy" "" "0000153604" "05105" "00205420" "00006" "Familial, autosomal recessive" "" "40y-lost ability to walk (HP:0006957)" "31y" "" "" "" "" "" "" "" "" "hereditary inclusion body myopathy" "" "0000153605" "05121" "00205421" "00006" "Unknown" "" "centrally nucleated fibers; excercise induced disruption skeletal-muscle sarcolemma; reduced forelimb grip strength; no cardiac changes; intellectual disability (HP:0001249)" "" "" "" "DAG1 hypoglycosylated" "" "" "" "" "" "muscular dystrophy" "" "0000203264" "05126" "00265467" "00006" "Unknown" "5y" "high CK, easy falling, mental retardation" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000203265" "05126" "00265468" "00006" "Unknown" "12y" "high CK, asympthomatic" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000284163" "05117" "00390626" "00006" "Familial, autosomal dominant" "69y" "" "" "" "" "" "" "" "" "" "" "congenital muscular dystrophy, mental retardation" "" "0000292074" "05618" "00398986" "00006" "Unknown" "" "serum CK 1844 U/L; quadriceps hypertrophy" "16y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000325551" "00198" "00435357" "03565" "Familial, autosomal dominant" "" "HyperCKemia" "" "" "" "" "" "" "" "" "HyperCKemia" "HyperCKemia" "" "0000325552" "00198" "00435358" "03565" "Familial, autosomal dominant" "" "HyperCKemia" "" "" "" "" "" "" "" "" "HyperCKemia" "HyperCKemia" "" "0000325553" "00198" "00435359" "03565" "Familial, autosomal dominant" "" "HyperCKemia" "" "" "" "" "" "" "" "" "HyperCKemia" "HyperCKemia" "" "0000325554" "00198" "00435360" "03565" "Familial, autosomal dominant" "" "HyperCKemia" "" "" "" "" "" "" "" "" "HyperCKemia" "HyperCKemia" "" "0000325555" "00198" "00435361" "03565" "Familial, autosomal dominant" "" "HyperCKemia" "" "" "" "" "" "" "" "" "HyperCKemia" "HyperCKemia" "" "0000325556" "00198" "00435362" "03565" "Familial, autosomal dominant" "" "HyperCKemia" "" "" "" "" "" "" "" "" "HyperCKemia" "HyperCKemia" "" "0000325557" "00198" "00435363" "03565" "Familial, autosomal dominant" "" "HyperCKemia" "" "" "" "" "" "" "" "" "HyperCKemia" "HyperCKemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 110 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184221" "00183264" "1" "00006" "00006" "2018-10-21 21:12:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000206427" "00205399" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206428" "00205400" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206429" "00205401" "1" "00006" "00006" "2011-05-06 14:24:55" "00006" "2012-10-12 23:05:34" "SEQ" "DNA" "" "" "0000206430" "00205402" "1" "00006" "00006" "2012-10-12 23:02:15" "00006" "2012-10-12 23:08:26" "SEQ" "DNA" "" "" "0000206431" "00205403" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206432" "00205404" "1" "00006" "00006" "2012-11-03 16:20:45" "" "" "DGGE;SEQ" "DNA" "" "" "0000206433" "00205405" "1" "00006" "00006" "2012-11-03 15:21:14" "" "" "SEQ" "DNA" "" "" "0000206434" "00205406" "1" "00006" "00006" "2012-11-03 15:21:14" "" "" "SEQ" "DNA" "" "" "0000206435" "00205407" "1" "00006" "00006" "2011-03-25 18:07:54" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000206436" "00205408" "1" "00006" "00006" "2011-03-25 18:07:54" "00006" "2013-02-01 19:44:08" "arrayCNV;MLPA;RT-PCR" "DNA;RNA" "" "" "0000206437" "00205409" "1" "00006" "00006" "2012-10-26 15:07:54" "" "" "SEQ" "DNA" "" "" "0000206438" "00205410" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206439" "00205411" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206440" "00205412" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206441" "00205413" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206442" "00205414" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206443" "00205415" "1" "00006" "00006" "2012-11-03 16:20:44" "" "" "SEQ" "DNA" "" "" "0000206444" "00205416" "1" "00006" "00006" "2012-11-03 16:20:45" "" "" "SEQ" "DNA" "" "" "0000206445" "00205417" "1" "00006" "00006" "2012-11-03 16:20:45" "" "" "SEQ" "DNA" "" "" "0000206446" "00205418" "1" "00006" "00006" "2012-11-03 15:21:14" "" "" "SEQ" "DNA" "" "" "0000206447" "00205419" "1" "00006" "00006" "2012-11-03 15:21:14" "" "" "SEQ" "DNA" "" "" "0000206448" "00205420" "1" "00006" "00006" "2012-11-03 15:21:14" "" "" "SEQ" "DNA" "" "" "0000206449" "00205421" "1" "00006" "00006" "2011-03-25 18:07:54" "00006" "2013-02-01 19:44:08" "SEQ" "DNA" "" "" "0000220579" "00219508" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220593" "00219522" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220679" "00219608" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220822" "00219751" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220850" "00219779" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220857" "00219786" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220965" "00219894" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220988" "00219917" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220993" "00219922" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000220998" "00219927" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221002" "00219931" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221095" "00220024" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221124" "00220053" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221138" "00220067" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221243" "00220172" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221278" "00220207" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221349" "00220278" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221392" "00220321" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221404" "00220333" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221505" "00220434" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221519" "00220448" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221575" "00220504" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221730" "00220659" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221733" "00220662" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221760" "00220689" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221769" "00220698" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221800" "00220729" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221912" "00220841" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000221952" "00220881" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222026" "00220955" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222034" "00220963" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222074" "00221003" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222109" "00221038" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222113" "00221042" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222114" "00221043" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222129" "00221058" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222286" "00221215" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222292" "00221221" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222296" "00221225" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222298" "00221227" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222308" "00221237" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222345" "00221274" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222368" "00221297" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222396" "00221325" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222476" "00221405" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222537" "00221466" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222578" "00221507" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222682" "00221611" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222698" "00221627" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222706" "00221635" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222768" "00221697" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222857" "00221786" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222873" "00221802" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222903" "00221832" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222927" "00221856" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222978" "00221907" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000222997" "00221926" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223000" "00221929" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223052" "00221981" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223103" "00222032" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223107" "00222036" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223219" "00222148" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223353" "00222282" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223479" "00222408" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223486" "00222415" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223503" "00222432" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223527" "00222456" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223540" "00222469" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223568" "00222497" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223598" "00222527" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223599" "00222528" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223620" "00222549" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223731" "00222660" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000266590" "00265467" "1" "00006" "00006" "2019-09-26 11:09:23" "" "" "SEQ;SEQ-NG" "DNA" "" "LGMD gene panel" "0000266591" "00265468" "1" "00006" "00006" "2019-09-26 11:09:23" "" "" "SEQ;SEQ-NG" "DNA" "" "LGMD gene panel" "0000294598" "00293430" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309845" "00308700" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000391867" "00390626" "1" "00006" "00006" "2021-11-10 16:44:31" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000400231" "00398986" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000436837" "00435357" "1" "03565" "03565" "2023-07-19 19:08:18" "" "" "SEQ-NG" "DNA" "" "" "0000436838" "00435358" "1" "03565" "03565" "2023-07-19 19:11:22" "" "" "SEQ-NG" "DNA" "" "" "0000436839" "00435359" "1" "03565" "03565" "2023-07-19 19:13:22" "" "" "SEQ-NG" "DNA" "" "" "0000436840" "00435360" "1" "03565" "03565" "2023-07-19 19:15:39" "" "" "SEQ-NG" "DNA" "" "" "0000436841" "00435361" "1" "03565" "03565" "2023-07-19 19:17:45" "" "" "SEQ-NG" "DNA" "" "" "0000436842" "00435362" "1" "03565" "03565" "2023-07-19 19:19:49" "" "" "SEQ-NG" "DNA" "" "" "0000436843" "00435363" "1" "03565" "03565" "2023-07-19 19:21:49" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{geneid}}" "0000184221" "DAG1" "0000184221" "GMPPB" "0000184221" "POMT2" "0000206427" "DAG1" "0000206428" "DAG1" "0000206429" "DAG1" "0000206430" "DAG1" "0000206431" "DAG1" "0000206432" "DAG1" "0000206433" "DAG1" "0000206434" "DAG1" "0000206435" "DAG1" "0000206436" "DAG1" "0000206437" "DAG1" "0000206439" "DAG1" "0000206440" "DAG1" "0000206441" "DAG1" "0000206442" "DAG1" "0000206443" "DAG1" "0000206444" "DAG1" "0000206445" "DAG1" "0000206446" "DAG1" "0000206447" "DAG1" "0000206448" "DAG1" "0000206449" "DAG1" "0000266590" "DAG1" "0000266591" "DAG1" "0000309845" "DAG1" ## 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 = 180 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000265198" "0" "10" "3" "49570200" "49570200" "subst" "0.279851" "02330" "DAG1_000042" "g.49570200C>T" "" "" "" "DAG1(NM_001165928.4):c.2256C>T (p.H752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532767C>T" "" "benign" "" "0000265201" "0" "10" "3" "49548008" "49548008" "subst" "0.993908" "02330" "DAG1_000031" "g.49548008C>G" "" "" "" "DAG1(NM_001165928.4):c.41C>G (p.S14W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49510575C>G" "" "benign" "" "0000267271" "0" "10" "3" "49570200" "49570200" "subst" "0.279851" "02325" "DAG1_000042" "g.49570200C>T" "" "" "" "DAG1(NM_001165928.4):c.2256C>T (p.H752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532767C>T" "" "benign" "" "0000267272" "0" "10" "3" "49548008" "49548008" "subst" "0.993908" "02325" "DAG1_000031" "g.49548008C>G" "" "" "" "DAG1(NM_001165928.4):c.41C>G (p.S14W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49510575C>G" "" "benign" "" "0000274740" "0" "30" "3" "49569093" "49569093" "subst" "0" "01943" "DAG1_000037" "g.49569093C>A" "" "" "" "DAG1(NM_001165928.3):c.1149C>A (p.G383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49531660C>A" "" "likely benign" "" "0000274741" "0" "30" "3" "49569177" "49569177" "subst" "0.00220515" "01943" "DAG1_000038" "g.49569177G>A" "" "" "" "DAG1(NM_001165928.3):c.1233G>A (p.V411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49531744G>A" "" "likely benign" "" "0000274742" "0" "30" "3" "49569555" "49569555" "subst" "8.12572E-6" "01943" "DAG1_000039" "g.49569555C>T" "" "" "" "DAG1(NM_001165928.3):c.1611C>T (p.T537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532122C>T" "" "likely benign" "" "0000274743" "0" "10" "3" "49569645" "49569645" "subst" "0.00115377" "01943" "DAG1_000040" "g.49569645C>T" "" "" "" "DAG1(NM_001165928.3):c.1701C>T (p.S567=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532212C>T" "" "benign" "" "0000274744" "0" "30" "3" "49570068" "49570068" "subst" "2.84986E-5" "01943" "DAG1_000041" "g.49570068G>A" "" "" "" "DAG1(NM_001165928.3):c.2124G>A (p.T708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532635G>A" "" "likely benign" "" "0000274745" "0" "30" "3" "49570404" "49570404" "subst" "0" "01943" "DAG1_000044" "g.49570404G>A" "" "" "" "DAG1(NM_001165928.3):c.2460G>A (p.Q820=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532971G>A" "" "likely benign" "" "0000274746" "0" "10" "3" "49568275" "49568275" "subst" "0.00210603" "01943" "DAG1_000033" "g.49568275G>A" "" "" "" "DAG1(NM_001165928.3):c.331G>A (p.D111N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49530842G>A" "" "benign" "" "0000274747" "0" "50" "3" "49568543" "49568543" "subst" "0.00201407" "01943" "DAG1_000035" "g.49568543C>G" "" "" "" "DAG1(NM_001165928.3):c.599C>G (p.T200S, p.(Thr200Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49531110C>G" "" "VUS" "" "0000329413" "0" "30" "3" "49568298" "49568298" "subst" "0" "01804" "DAG1_000034" "g.49568298G>A" "" "" "" "DAG1(NM_001165928.3):c.354G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49530865G>A" "" "likely benign" "" "0000329414" "0" "50" "3" "49568869" "49568869" "subst" "8.13418E-6" "01804" "DAG1_000036" "g.49568869C>T" "" "" "" "DAG1(NM_001165928.3):c.925C>T (p.(Arg309Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49531436C>T" "" "VUS" "" "0000329415" "0" "30" "3" "49570215" "49570215" "subst" "0.00226728" "01804" "DAG1_000043" "g.49570215C>T" "" "" "" "DAG1(NM_001165928.3):c.2271C>T (p.(Ala757=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49532782C>T" "" "likely benign" "" "0000408229" "0" "70" "3" "49570515" "49570515" "subst" "0" "00006" "DAG1_000046" "g.49570515T>G" "" "Lazar ASHG2018 P1192" "" "" "" "Germline" "" "" "0" "" "" "g.49533082T>G" "" "likely pathogenic" "" "0000435999" "1" "30" "3" "49569180" "49569180" "subst" "0" "00006" "DAG1_000000" "g.49569180G>Y" "1/106 chromosomes" "{PMID:Concolino 2007:17196572}" "" "E412D" "1 heterozygote" "Germline" "" "" "0" "" "" "g.49531747G>Y" "" "likely benign" "" "0000436000" "1" "30" "3" "0" "0" "" "0" "00006" "DAG1_000000" "g.?" "1/106 chromosomes" "{PMID:Concolino 2007:17196572}" "" "S485R" "1 heterozygote" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000436001" "3" "90" "3" "49569722" "49569722" "subst" "0" "00006" "DAG1_000000" "g.49569722T>A" "" "{PMID:Gupta 2011:21296866}" "" "" "affects p.Ile593 in zebrafish (c.1700T>A p.Val567Asp); reduced transcripts, complete absence protein" "animal model" "" "" "0" "" "" "g.49532289T>A" "" "pathogenic" "" "0000436002" "3" "90" "3" "49569109" "49569109" "subst" "8.12301E-6" "00006" "DAG1_000000" "g.49569109C>T" "" "{PMID:Lin 2011:21317159}" "" "C1568T (R398*)" "affects p.Arg389 in zebrafish (c.1568C>T p.Arg398*)" "animal model" "" "" "0" "" "" "g.49531676C>T" "" "pathogenic" "" "0000436003" "1" "30" "3" "49570200" "49570200" "subst" "0.279851" "00006" "DAG1_000004" "g.49570200C>T" "17/66 chromosomes" "{PMID:Concolino 2007:17196572}" "" "H752H" "9 heterozygotes, 4 homozygotes" "Germline" "" "rs1801143" "0" "" "" "g.49532767C>T" "" "likely benign" "" "0000436004" "0" "10" "3" "49570200" "49570200" "subst" "0.279851" "00006" "DAG1_000004" "g.49570200C>T" "20/100 chromosomes" "{PMID:lbraghimov-Beskrovnaya 1993:08281174}" "" "C>T (H752H)" "" "Unknown" "" "rs1801143" "0" "" "" "g.49532767C>T" "" "benign" "" "0000436005" "1" "30" "3" "49570200" "49570200" "subst" "0.279851" "00006" "DAG1_000004" "g.49570200C>T" "" "{PMID:Gotlieb 2005:16112887}" "" "2650C>T (H752H)" "does not influence severity IBM" "Germline" "" "rs1801143" "0" "" "" "g.49532767C>T" "" "likely benign" "" "0000436006" "1" "30" "3" "49570200" "49570200" "subst" "0.279851" "00006" "DAG1_000004" "g.49570200C>T" "" "{PMID:Gotlieb 2005:16112887}" "" "2650C>T (H752H)" "does not influence severity IBM" "Germline" "" "rs1801143" "0" "" "" "g.49532767C>T" "" "likely benign" "" "0000436007" "2" "30" "3" "49570200" "49570200" "subst" "0.279851" "00006" "DAG1_000004" "g.49570200C>T" "" "{PMID:Gotlieb 2005:16112887}" "" "2650C>T (H752H)" "does not influence severity IBM" "Germline" "" "rs1801143" "0" "" "" "g.49532767C>T" "" "likely benign" "" "0000436008" "3" "90" "3" "49568519" "49568519" "subst" "0" "00006" "DAG1_000011" "g.49568519C>T" "" "{PMID:Hara 2011:21388311}" "" "" "" "Germline" "" "" "0" "" "" "g.49531086C>T" "" "pathogenic" "" "0000436009" "1" "70" "3" "0" "0" "" "0" "00006" "DAG1_000012" "g.?" "" "{PMID:Frost 2010:20234391}" "" "chr3:g.(48260361_48286183)_(50219661 _50252191)del (NCBI36)" "1.9 Mb deletion incl. DAG1 from in ZNF589 to in SLC38A3/GNAI2; muscle mRNA 0.60" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000436010" "1" "70" "3" "49569424" "49569424" "subst" "4.06131E-6" "00006" "DAG1_000013" "g.49569424A>C" "17/106 chromosomes" "{PMID:Concolino 2007:17196572}" "" "" "1 heterozygote, 8 homozygotes" "Germline" "" "" "0" "" "" "g.49531991A>C" "" "likely pathogenic" "" "0000436011" "1" "30" "3" "49568433" "49568433" "subst" "0" "00006" "DAG1_000014" "g.49568433G>T" "13/66 chromosomes" "{PMID:Concolino 2007:17196572}" "" "D163E" "9 heterozygotes, 2 homozygotes" "Germline" "" "" "0" "" "" "g.49531000G>T" "" "likely benign" "" "0000436012" "0" "30" "3" "49568433" "49568433" "subst" "0" "00006" "DAG1_000014" "g.49568433G>T" "" "{PMID:Gotlieb 2005:16112887}" "" "883T>G (D163E)" "" "Unknown" "" "" "0" "" "" "g.49531000G>T" "" "likely benign" "" "0000436013" "1" "30" "3" "49568686" "49568686" "subst" "0" "00006" "DAG1_000015" "g.49568686G>C" "15/66 chromosomes" "{PMID:Concolino 2007:17196572}" "" "P248A" "3 heterozygotes, 6 homozygotes" "Germline" "" "" "0" "" "" "g.49531253G>C" "" "likely benign" "" "0000436014" "0" "30" "3" "49568686" "49568686" "subst" "0" "00006" "DAG1_000015" "g.49568686G>C" "" "{PMID:Gotlieb 2005:16112887}" "" "1136C>G (P248A)" "" "Unknown" "" "" "0" "" "" "g.49531253G>C" "" "likely benign" "" "0000436015" "1" "30" "3" "49569068" "49569068" "subst" "0" "00006" "DAG1_000016" "g.49569068C>G" "3/106 chromosomes" "{PMID:Concolino 2007:17196572}" "" "A375G" "1 heterozygote, 1 homozygote" "Germline" "" "" "0" "" "" "g.49531635C>G" "" "likely benign" "" "0000436016" "1" "30" "3" "49570556" "49570556" "subst" "1.21906E-5" "00006" "DAG1_000017" "g.49570556C>T" "21/66 chromosomes" "{PMID:Concolino 2007:17196572}" "" "V871A" "8 heterozygotes, 5 homozygotes" "Germline" "" "" "0" "" "" "g.49533123C>T" "" "likely benign" "" "0000436017" "0" "30" "3" "49570556" "49570556" "subst" "1.21906E-5" "00006" "DAG1_000017" "g.49570556C>T" "" "{PMID:Gotlieb 2005:16112887}" "" "3006T>C (V871A)" "" "Unknown" "" "" "0" "" "" "g.49533123C>T" "" "likely benign" "" "0000436018" "0" "30" "3" "49570670" "49570670" "subst" "0" "00006" "DAG1_000020" "g.49570670G>C" "" "{PMID:Gotlieb 2005:16112887}" "" "3120C>G" "" "Unknown" "" "" "0" "" "" "g.49533237G>C" "" "likely benign" "" "0000436019" "1" "30" "3" "49569252" "49569252" "subst" "0.000296439" "00006" "DAG1_000024" "g.49569252G>A" "" "{PMID:Gotlieb 2005:16112887}" "" "1702G>A (T436T)" "does not influence severity IBM" "Germline" "" "" "0" "" "" "g.49531819G>A" "" "likely benign" "" "0000436020" "2" "30" "3" "49569252" "49569252" "subst" "0.000296439" "00006" "DAG1_000024" "g.49569252G>A" "" "{PMID:Gotlieb 2005:16112887}" "" "1702G>A (T436T)" "does not influence severity IBM" "Germline" "" "" "0" "" "" "g.49531819G>A" "" "likely benign" "" "0000436021" "1" "30" "3" "49569252" "49569252" "subst" "0.000296439" "00006" "DAG1_000024" "g.49569252G>A" "" "{PMID:Gotlieb 2005:16112887}" "" "1702G>A (T436T)" "does not influence severity IBM" "Germline" "" "" "0" "" "" "g.49531819G>A" "" "likely benign" "" "0000436022" "2" "30" "3" "49569252" "49569252" "subst" "0.000296439" "00006" "DAG1_000024" "g.49569252G>A" "" "{PMID:Gotlieb 2005:16112887}" "" "1702G>A (T436T)" "does not influence severity IBM" "Germline" "" "" "0" "" "" "g.49531819G>A" "" "likely benign" "" "0000436023" "1" "30" "3" "49569252" "49569252" "subst" "0.000296439" "00006" "DAG1_000024" "g.49569252G>A" "" "{PMID:Gotlieb 2005:16112887}" "" "1702G>A (T436T)" "does not influence severity IBM" "Germline" "" "" "0" "" "" "g.49531819G>A" "" "likely benign" "" "0000436024" "2" "30" "3" "49569252" "49569252" "subst" "0.000296439" "00006" "DAG1_000024" "g.49569252G>A" "" "{PMID:Gotlieb 2005:16112887}" "" "1702G>A (T436T)" "does not influence severity IBM" "Germline" "" "" "0" "" "" "g.49531819G>A" "" "likely benign" "" "0000436025" "3" "90" "3" "49568519" "49568519" "subst" "0" "00006" "DAG1_000000" "g.49568519C>T" "" "{PMID:Hara 2011:21388311}" "" "" "mouse knock-in; significantly reduced laminin-binding activity, reduced maturation neuromuscular junction" "animal model" "" "" "0" "" "" "g.49531086C>T" "" "pathogenic" "" "0000436026" "1" "50" "3" "49548008" "49548008" "subst" "0" "00006" "DAG1_000001" "g.49548008G>C" "0.00-0.12" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs2131107" "0" "" "" "" "" "VUS" "" "0000436027" "1" "50" "3" "49548294" "49548294" "subst" "0.994005" "00006" "DAG1_000002" "g.49548294T>C" "0.88-1.00" "" "" "" "" "Germline" "" "rs2329024" "0" "" "" "g.49510861T>C" "" "VUS" "" "0000436028" "1" "50" "3" "49568095" "49568095" "subst" "0" "00006" "DAG1_000003" "g.49568095G>A" "0.00-0.11" "" "" "" "" "Germline" "" "rs2311801" "0" "" "" "g.49530662G>A" "" "VUS" "" "0000436029" "1" "50" "3" "49569717" "49569717" "subst" "9.7538E-5" "00006" "DAG1_000005" "g.49569717C>T" "0.00-0.03" "" "" "" "" "Germline" "" "rs2229010" "0" "" "" "g.49532284C>T" "" "VUS" "" "0000436030" "0" "50" "3" "49569717" "49569717" "subst" "9.7538E-5" "00006" "DAG1_000005" "g.49569717C>T" "" "" "" "2176C>T (F591F)" "" "Germline" "" "rs2229010" "0" "" "" "g.49532284C>T" "" "VUS" "" "0000436031" "1" "50" "3" "49570882" "49570882" "subst" "0.538727" "00006" "DAG1_000006" "g.49570882T>C" "0.25-0.89" "" "" "" "" "Germline" "" "rs050088" "0" "" "" "g.49533449T>C" "" "VUS" "" "0000436032" "0" "50" "3" "49570882" "49570882" "subst" "0.538727" "00006" "DAG1_000006" "g.49570882T>C" "" "" "" "3332C>T" "" "Germline" "" "rs1050088" "0" "" "" "g.49533449T>C" "" "VUS" "" "0000436033" "1" "50" "3" "49571462" "49571462" "subst" "0" "00006" "DAG1_000007" "g.49571462G>T" "0.30-0.42" "" "" "" "" "Germline" "" "rs12583" "0" "" "" "g.49534029G>T" "" "VUS" "" "0000436034" "1" "50" "3" "49572140" "49572140" "subst" "0" "00006" "DAG1_000008" "g.49572140A>G" "0.08-0.73" "" "" "" "" "Germline" "" "rs4625" "0" "" "" "g.49534707A>G" "" "VUS" "" "0000436035" "1" "50" "3" "49572894" "49572894" "subst" "0" "00006" "DAG1_000009" "g.49572894T>C" "0.89-1.00" "" "" "" "Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message." "Germline" "" "rs6446283" "0" "" "" "" "" "VUS" "" "0000436036" "1" "50" "3" "49547561" "49547561" "subst" "0" "00006" "DAG1_000010" "g.49547561T>G" "0.07-0.21" "" "" "" "" "Germline" "" "rs7622302" "0" "" "" "g.49510128T>G" "" "VUS" "" "0000436037" "0" "90" "3" "49568519" "49568519" "subst" "0" "00006" "DAG1_000011" "g.49568519C>T" "" "{PMID:Hara 2011:21388311}" "" "" "expression cloning (DAG1 negative cells) shows impaired post-translational modification, reduced laminin binding, no co-IP LARGE" "In vitro (cloned)" "" "" "0" "" "" "g.49531086C>T" "" "NA" "" "0000436038" "0" "10" "3" "49568519" "49568519" "subst" "0" "00006" "DAG1_000011" "g.49568519C>T" "" "{PMID:Hara 2011:21388311}" "" "" "expression cloning (DAG1 negative cells) shows normal protein localisation/stability" "In vitro (cloned)" "" "" "0" "" "" "g.49531086C>T" "" "NA" "" "0000436039" "0" "50" "3" "49570414" "49570414" "subst" "0" "00006" "DAG1_000018" "g.49570414G>A" "" "" "" "2864G>A (T824A)" "" "Germline" "" "rs1050090" "0" "" "" "g.49532981G>A" "" "VUS" "" "0000436040" "0" "50" "3" "49570416" "49570416" "subst" "0" "00006" "DAG1_000019" "g.49570416T>C" "" "" "" "2866T>C (A824A)" "" "Germline" "" "rs1063411" "0" "" "" "g.49532983T>C" "" "VUS" "" "0000436041" "0" "50" "3" "49571973" "49571973" "subst" "0" "00006" "DAG1_000021" "g.49571973C>T" "" "" "" "4420C>T" "" "Germline" "" "rs11340" "0" "" "" "g.49534540C>T" "" "VUS" "" "0000436042" "0" "50" "3" "49572779" "49572779" "subst" "0" "00006" "DAG1_000022" "g.49572779G>C" "" "" "" "5228G>C" "" "Germline" "" "rs14119" "0" "" "" "g.49535346G>C" "" "VUS" "" "0000436043" "0" "50" "3" "49572849" "49572849" "subst" "0" "00006" "DAG1_000023" "g.49572849G>C" "" "" "" "5298G>C" "" "Germline" "" "rs1063430" "0" "" "" "g.49535416G>C" "" "VUS" "" "0000462472" "1" "50" "3" "49570013" "49570013" "subst" "4.07276E-6" "00430" "DAG1_000086" "g.49570013C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49532580C>T" "" "VUS" "" "0000462473" "1" "50" "3" "49569634" "49569634" "subst" "0.000134061" "00430" "DAG1_000077" "g.49569634C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in DAG1" "Germline" "" "" "0" "" "" "g.49532201C>A" "" "VUS" "" "0000462474" "1" "50" "3" "49548245" "49548245" "subst" "0.000219988" "00430" "DAG1_000052" "g.49548245T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49510812T>C" "" "VUS" "" "0000462475" "1" "50" "3" "49568966" "49568966" "subst" "0.000553719" "00430" "DAG1_000061" "g.49568966C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49531533C>T" "" "VUS" "" "0000462476" "1" "50" "3" "49569979" "49569979" "subst" "1.62718E-5" "00430" "DAG1_000084" "g.49569979C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532546C>T" "" "VUS" "" "0000462477" "1" "50" "3" "49568876" "49568876" "subst" "4.06878E-6" "00430" "DAG1_000059" "g.49568876G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531443G>C" "" "VUS" "" "0000462478" "1" "50" "3" "49568966" "49568966" "subst" "0.000553719" "00430" "DAG1_000061" "g.49568966C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531533C>T" "" "VUS" "" "0000462479" "1" "50" "3" "49570013" "49570013" "subst" "4.07276E-6" "00430" "DAG1_000086" "g.49570013C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49532580C>T" "" "VUS" "" "0000462480" "1" "50" "3" "49548152" "49548152" "subst" "0.000113766" "00430" "DAG1_000050" "g.49548152C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49510719C>T" "" "VUS" "" "0000462481" "1" "50" "3" "49570270" "49570270" "subst" "2.03533E-5" "00430" "DAG1_000092" "g.49570270C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49532837C>T" "" "VUS" "" "0000462482" "1" "50" "3" "49548152" "49548152" "subst" "0.000113766" "00430" "DAG1_000050" "g.49548152C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49510719C>T" "" "VUS" "" "0000462483" "1" "50" "3" "49569224" "49569224" "subst" "6.09112E-5" "00430" "DAG1_000068" "g.49569224C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49531791C>T" "" "VUS" "" "0000462484" "1" "50" "3" "0" "0" "" "0" "00430" "DAG1_000000" "g.?" "" "{PMID:Nallamilli 2018:30564623}" "" "8804C>T (R546C)" "no second variant" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000462485" "1" "50" "3" "49569252" "49569252" "subst" "0.000296439" "00430" "DAG1_000024" "g.49569252G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531819G>A" "" "VUS" "" "0000462486" "1" "50" "3" "49548225" "49548225" "subst" "0.00289643" "00430" "DAG1_000051" "g.49548225G>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant in DAG1" "Germline" "" "" "0" "" "" "g.49510792G>C" "" "VUS" "" "0000462487" "1" "50" "3" "49568543" "49568543" "subst" "0.00201407" "00430" "DAG1_000035" "g.49568543C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531110C>G" "" "VUS" "" "0000462488" "1" "50" "3" "49568578" "49568578" "subst" "4.87266E-5" "00430" "DAG1_000057" "g.49568578C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531145C>A" "" "VUS" "" "0000462489" "1" "50" "3" "49568543" "49568543" "subst" "0.00201407" "00430" "DAG1_000035" "g.49568543C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531110C>G" "" "VUS" "" "0000462490" "1" "50" "3" "49570085" "49570085" "subst" "1.62914E-5" "00430" "DAG1_000089" "g.49570085G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49532652G>T" "" "VUS" "" "0000462491" "1" "50" "3" "49568543" "49568543" "subst" "0.00201407" "00430" "DAG1_000035" "g.49568543C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49531110C>G" "" "VUS" "" "0000462492" "1" "50" "3" "49548115" "49548115" "subst" "4.06369E-6" "00430" "DAG1_000049" "g.49548115A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49510682A>G" "" "VUS" "" "0000462493" "1" "50" "3" "49568639" "49568639" "subst" "8.1217E-6" "00430" "DAG1_000058" "g.49568639A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531206A>G" "" "VUS" "" "0000462494" "1" "50" "3" "49569898" "49569898" "subst" "4.06547E-5" "00430" "DAG1_000083" "g.49569898C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532465C>T" "" "VUS" "" "0000462495" "1" "50" "3" "49568909" "49568909" "subst" "0.000101768" "00430" "DAG1_000060" "g.49568909C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49531476C>T" "" "VUS" "" "0000462496" "1" "50" "3" "49570454" "49570454" "subst" "4.06544E-6" "00430" "DAG1_000094" "g.49570454C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49533021C>G" "" "VUS" "" "0000462497" "1" "50" "3" "49570454" "49570454" "subst" "4.06544E-6" "00430" "DAG1_000094" "g.49570454C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49533021C>G" "" "VUS" "" "0000462498" "1" "50" "3" "49570115" "49570115" "subst" "0" "00430" "DAG1_000090" "g.49570115C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532682C>G" "" "VUS" "" "0000462499" "1" "50" "3" "49569314" "49569314" "subst" "2.43665E-5" "00430" "DAG1_000072" "g.49569314G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531881G>A" "" "VUS" "" "0000462500" "1" "50" "3" "49570136" "49570136" "subst" "0.000512988" "00430" "DAG1_000091" "g.49570136C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532703C>T" "" "VUS" "" "0000462501" "1" "50" "3" "49569250" "49569250" "subst" "4.87286E-5" "00430" "DAG1_000069" "g.49569250A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531817A>G" "" "VUS" "" "0000462502" "1" "50" "3" "49548245" "49548245" "subst" "0.000219988" "00430" "DAG1_000052" "g.49548245T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49510812T>C" "" "VUS" "" "0000462503" "1" "50" "3" "49568578" "49568578" "subst" "4.87266E-5" "00430" "DAG1_000057" "g.49568578C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531145C>A" "" "VUS" "" "0000462504" "1" "50" "3" "49570562" "49570562" "subst" "0" "00430" "DAG1_000096" "g.49570562T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49533129T>C" "" "VUS" "" "0000462505" "1" "50" "3" "49569718" "49569718" "subst" "8.12843E-6" "00430" "DAG1_000079" "g.49569718G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532285G>A" "" "VUS" "" "0000462506" "1" "50" "3" "49569314" "49569314" "subst" "2.43665E-5" "00430" "DAG1_000072" "g.49569314G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531881G>A" "" "VUS" "" "0000462507" "1" "50" "3" "49569983" "49569983" "subst" "2.84872E-5" "00430" "DAG1_000085" "g.49569983G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49532550G>A" "" "VUS" "" "0000462508" "1" "50" "3" "49569149" "49569149" "subst" "6.90524E-5" "00430" "DAG1_000064" "g.49569149G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531716G>T" "" "VUS" "" "0000462509" "1" "50" "3" "49568995" "49568995" "subst" "2.03174E-5" "00430" "DAG1_000062" "g.49568995A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531562A>G" "" "VUS" "" "0000462510" "1" "50" "3" "49569159" "49569159" "subst" "0.000129967" "00430" "DAG1_000066" "g.49569159G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531726G>A" "" "VUS" "" "0000462511" "1" "50" "3" "49570270" "49570270" "subst" "0" "00430" "DAG1_000093" "g.49570270C>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532837C>G" "" "VUS" "" "0000462512" "1" "50" "3" "49569821" "49569823" "del" "0" "00430" "DAG1_000082" "g.49569821_49569823del" "" "{PMID:Nallamilli 2018:30564623}" "" "1877_1879delAGA" "no second variant" "Germline" "" "" "0" "" "" "g.49532388_49532390del" "" "VUS" "" "0000462513" "1" "70" "3" "49569201" "49569201" "del" "0" "00430" "DAG1_000067" "g.49569201del" "" "{PMID:Nallamilli 2018:30564623}" "" "1257delT" "no second variant" "Germline" "" "" "0" "" "" "g.49531768del" "" "likely pathogenic" "" "0000462514" "1" "50" "3" "49569515" "49569515" "subst" "2.03094E-5" "00430" "DAG1_000075" "g.49569515A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532082A>G" "" "VUS" "" "0000462515" "1" "50" "3" "49569421" "49569421" "subst" "0" "00430" "DAG1_000074" "g.49569421C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531988C>T" "" "VUS" "" "0000462516" "1" "50" "3" "49569898" "49569898" "subst" "4.06547E-5" "00430" "DAG1_000083" "g.49569898C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532465C>T" "" "VUS" "" "0000462517" "1" "50" "3" "49569154" "49569154" "subst" "6.09216E-5" "00430" "DAG1_000065" "g.49569154A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531721A>G" "" "VUS" "" "0000462518" "1" "50" "3" "49569304" "49569304" "subst" "7.30964E-5" "00430" "DAG1_000071" "g.49569304C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531871C>T" "" "VUS" "" "0000462519" "1" "50" "3" "49570026" "49570026" "subst" "0.000505211" "00430" "DAG1_000087" "g.49570026C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532593C>T" "" "VUS" "" "0000462520" "1" "50" "3" "49568966" "49568966" "subst" "0.000553719" "00430" "DAG1_000061" "g.49568966C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531533C>T" "" "VUS" "" "0000462521" "1" "50" "3" "49568966" "49568966" "subst" "0.000553719" "00430" "DAG1_000061" "g.49568966C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49531533C>T" "" "VUS" "" "0000462522" "1" "50" "3" "49569634" "49569634" "subst" "0.000134061" "00430" "DAG1_000077" "g.49569634C>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49532201C>A" "" "VUS" "" "0000462523" "1" "50" "3" "49568966" "49568966" "subst" "0.000553719" "00430" "DAG1_000061" "g.49568966C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531533C>T" "" "VUS" "" "0000462524" "1" "50" "3" "49569585" "49569585" "subst" "0.000247919" "00430" "DAG1_000076" "g.49569585C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49532152C>T" "" "VUS" "" "0000462525" "1" "50" "3" "49569663" "49569663" "subst" "7.71831E-5" "00430" "DAG1_000078" "g.49569663C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532230C>T" "" "VUS" "" "0000462526" "1" "50" "3" "49569304" "49569304" "subst" "7.30964E-5" "00430" "DAG1_000071" "g.49569304C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531871C>T" "" "VUS" "" "0000462527" "1" "50" "3" "49568995" "49568995" "subst" "2.03174E-5" "00430" "DAG1_000062" "g.49568995A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531562A>G" "" "VUS" "" "0000462528" "1" "50" "3" "49569049" "49569049" "subst" "0" "00430" "DAG1_000063" "g.49569049A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531616A>G" "" "VUS" "" "0000462529" "1" "50" "3" "49548060" "49548060" "subst" "1.2198E-5" "00430" "DAG1_000048" "g.49548060G>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49510627G>T" "" "VUS" "" "0000462530" "1" "50" "3" "49569251" "49569251" "subst" "4.06075E-5" "00430" "DAG1_000070" "g.49569251C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531818C>T" "" "VUS" "" "0000462531" "1" "50" "3" "49568567" "49568567" "subst" "8.12123E-6" "00430" "DAG1_000056" "g.49568567T>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531134T>C" "" "VUS" "" "0000462532" "1" "50" "3" "49568483" "49568483" "subst" "3.65524E-5" "00430" "DAG1_000055" "g.49568483C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531050C>T" "" "VUS" "" "0000462533" "1" "50" "3" "49568417" "49568417" "subst" "1.62592E-5" "00430" "DAG1_000054" "g.49568417C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49530984C>T" "" "VUS" "" "0000462534" "1" "50" "3" "49569398" "49569398" "subst" "8.12262E-6" "00430" "DAG1_000073" "g.49569398G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531965G>A" "" "VUS" "" "0000462535" "1" "50" "3" "49569304" "49569304" "subst" "7.30964E-5" "00430" "DAG1_000071" "g.49569304C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531871C>T" "" "VUS" "" "0000462536" "1" "50" "3" "49570027" "49570027" "subst" "4.07332E-6" "00430" "DAG1_000088" "g.49570027G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532594G>A" "" "VUS" "" "0000462537" "1" "70" "3" "49548012" "49548012" "del" "0" "00430" "DAG1_000047" "g.49548012del" "" "{PMID:Nallamilli 2018:30564623}" "" "41delC" "no second variant" "Germline" "" "" "0" "" "" "g.49510579del" "" "likely pathogenic" "" "0000462538" "1" "50" "3" "49568329" "49568329" "subst" "8.12975E-6" "00430" "DAG1_000053" "g.49568329C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49530896C>T" "" "VUS" "" "0000462539" "1" "50" "3" "49569743" "49569743" "subst" "2.44027E-5" "00430" "DAG1_000080" "g.49569743A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532310A>G" "" "VUS" "" "0000462540" "1" "50" "3" "49569224" "49569224" "subst" "6.09112E-5" "00430" "DAG1_000068" "g.49569224C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531791C>T" "" "VUS" "" "0000462541" "1" "50" "3" "49569224" "49569224" "subst" "6.09112E-5" "00430" "DAG1_000068" "g.49569224C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531791C>T" "" "VUS" "" "0000462542" "1" "50" "3" "49568966" "49568966" "subst" "0.000553719" "00430" "DAG1_000061" "g.49568966C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49531533C>T" "" "VUS" "" "0000462543" "1" "50" "3" "49569751" "49569751" "subst" "4.06683E-6" "00430" "DAG1_000081" "g.49569751A>G" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.49532318A>G" "" "VUS" "" "0000462544" "1" "50" "3" "49569159" "49569159" "subst" "0.000129967" "00430" "DAG1_000066" "g.49569159G>A" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.49531726G>A" "" "VUS" "" "0000462545" "1" "70" "3" "49570541" "49570541" "dup" "0" "00430" "DAG1_000095" "g.49570541dup" "" "{PMID:Nallamilli 2018:30564623}" "" "2597dupC" "no second variant" "Germline" "" "" "0" "" "" "g.49533108dup" "" "likely pathogenic" "" "0000520205" "0" "30" "3" "49547848" "49547848" "dup" "0" "01804" "DAG1_000097" "g.49547848dup" "" "" "" "DAG1(NM_001165928.3):c.-116-4dup (p.(=)), DAG1(NM_004393.6):c.-116-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49510415dup" "" "likely benign" "" "0000520206" "0" "50" "3" "49548115" "49548115" "subst" "4.06369E-6" "01804" "DAG1_000049" "g.49548115A>G" "" "" "" "DAG1(NM_001165928.3):c.148A>G (p.(Met50Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49510682A>G" "" "VUS" "" "0000520207" "0" "30" "3" "49548225" "49548225" "subst" "0.00289643" "01804" "DAG1_000051" "g.49548225G>C" "" "" "" "DAG1(NM_001165928.3):c.258G>C (p.L86F, p.(Leu86Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49510792G>C" "" "likely benign" "" "0000520208" "0" "30" "3" "49548226" "49548226" "subst" "0.00800973" "01804" "DAG1_000098" "g.49548226A>G" "" "" "" "DAG1(NM_001165928.3):c.259A>G (p.(Ile87Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49510793A>G" "" "likely benign" "" "0000520209" "0" "30" "3" "49568220" "49568220" "del" "0.000926062" "01804" "DAG1_000099" "g.49568220del" "" "" "" "DAG1(NM_001165928.3):c.286-10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49530787del" "" "likely benign" "" "0000520211" "0" "10" "3" "49570882" "49570882" "subst" "0.538727" "02325" "DAG1_000006" "g.49570882T>C" "" "" "" "DAG1(NM_001165928.4):c.*250T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49533449T>C" "" "benign" "" "0000597295" "0" "50" "3" "49569691" "49569691" "subst" "4.06253E-6" "00006" "DAG1_000101" "g.49569691G>A" "" "{PMID:Özyilmaz 2019:31066050}" "" "" "ACMG PM2, PP3; in silico prediction pathogenic" "Germline" "" "rs781334046" "0" "" "" "g.49532258G>A" "" "VUS" "ACMG" "0000597296" "0" "50" "3" "49570271" "49570271" "subst" "2.03566E-5" "00006" "DAG1_000102" "g.49570271G>A" "" "{PMID:Özyilmaz 2019:31066050}" "" "" "ACMG PM2, PM5, PP3" "Germline" "" "rs753991804" "0" "" "" "g.49532838G>A" "" "VUS" "ACMG" "0000608773" "0" "30" "3" "49568543" "49568543" "subst" "0.00201407" "02326" "DAG1_000035" "g.49568543C>G" "" "" "" "DAG1(NM_001165928.3):c.599C>G (p.T200S, p.(Thr200Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49531110C>G" "" "likely benign" "" "0000608774" "0" "30" "3" "49568875" "49568875" "subst" "0" "01804" "DAG1_000103" "g.49568875C>T" "" "" "" "DAG1(NM_001165928.3):c.931C>T (p.(Arg311Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49531442C>T" "" "likely benign" "" "0000608775" "0" "30" "3" "49570163" "49570163" "subst" "1.62886E-5" "02326" "DAG1_000105" "g.49570163A>G" "" "" "" "DAG1(NM_001165928.3):c.2219A>G (p.D740G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49532730A>G" "" "likely benign" "" "0000608776" "0" "30" "3" "49570350" "49570350" "subst" "0.000142221" "02326" "DAG1_000106" "g.49570350C>T" "" "" "" "DAG1(NM_001165928.3):c.2406C>T (p.D802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49532917C>T" "" "likely benign" "" "0000621291" "0" "30" "3" "49569980" "49569980" "subst" "0.000553354" "01943" "DAG1_000104" "g.49569980G>A" "" "" "" "DAG1(NM_001165928.3):c.2036G>A (p.R679H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49532547G>A" "" "likely benign" "" "0000651287" "1" "50" "3" "49568966" "49568966" "subst" "0.000553719" "03575" "DAG1_000061" "g.49568966C>T" "9/2757 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs148759919}" "Germline" "" "rs148759919" "0" "" "" "g.49531533C>T" "" "VUS" "" "0000654989" "0" "50" "3" "49569259" "49569259" "subst" "4.46682E-5" "02327" "DAG1_000107" "g.49569259A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49531826A>G" "" "VUS" "" "0000677049" "0" "30" "3" "49548225" "49548225" "subst" "0.00289643" "02326" "DAG1_000051" "g.49548225G>C" "" "" "" "DAG1(NM_001165928.3):c.258G>C (p.L86F, p.(Leu86Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677050" "0" "30" "3" "49569415" "49569415" "subst" "8.12354E-5" "01943" "DAG1_000108" "g.49569415G>A" "" "" "" "DAG1(NM_001165928.3):c.1471G>A (p.G491R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684747" "0" "10" "3" "49568275" "49568275" "subst" "0.00210603" "00004" "DAG1_000033" "g.49568275G>A" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.49530842G>A" "" "benign" "" "0000689109" "0" "50" "3" "49548163" "49548163" "subst" "0" "02325" "DAG1_000109" "g.49548163G>A" "" "" "" "DAG1(NM_004393.6):c.196G>A (p.G66S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719504" "0" "50" "3" "49568966" "49568966" "subst" "0.000553719" "01804" "DAG1_000061" "g.49568966C>T" "" "" "" "DAG1(NM_001165928.3):c.1022C>T (p.(Thr341Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719505" "0" "70" "3" "49570487" "49570487" "dup" "0" "02329" "DAG1_000100" "g.49570487dup" "" "" "" "DAG1(NM_001165928.4):c.2543dupG (p.E849Rfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801300" "0" "30" "3" "49548225" "49548225" "subst" "0.00289643" "01943" "DAG1_000051" "g.49548225G>C" "" "" "" "DAG1(NM_001165928.3):c.258G>C (p.L86F, p.(Leu86Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801301" "0" "50" "3" "49569074" "49569074" "subst" "8.12189E-6" "01943" "DAG1_000110" "g.49569074T>C" "" "" "" "DAG1(NM_001165928.3):c.1130T>C (p.I377T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821793" "3" "90" "3" "49570270" "49570270" "subst" "2.03533E-5" "00006" "DAG1_000092" "g.49570270C>T" "" "{PMID:Song 2021:33200426}" "" "" "" "Germline" "" "" "0" "" "" "g.49532837C>T" "" "pathogenic (recessive)" "" "0000833038" "1" "70" "3" "49568281" "49568284" "del" "0" "00006" "DAG1_000111" "g.49568281_49568284del" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.49530848_49530851del" "" "likely pathogenic" "" "0000833171" "2" "70" "3" "49570172" "49570172" "subst" "0" "00006" "DAG1_000112" "g.49570172A>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.49532739A>C" "" "likely pathogenic" "" "0000850372" "0" "30" "3" "49547848" "49547848" "dup" "0" "02326" "DAG1_000097" "g.49547848dup" "" "" "" "DAG1(NM_001165928.3):c.-116-4dup (p.(=)), DAG1(NM_004393.6):c.-116-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859085" "0" "50" "3" "49569154" "49569154" "subst" "6.09216E-5" "01804" "DAG1_000065" "g.49569154A>G" "" "" "" "DAG1(NM_001165928.3):c.1210A>G (p.(Thr404Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859086" "0" "50" "3" "49569634" "49569634" "subst" "0" "01804" "DAG1_000113" "g.49569634C>T" "" "" "" "DAG1(NM_001165928.3):c.1690C>T (p.(Leu564Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885907" "0" "30" "3" "49568353" "49568353" "subst" "8.13372E-6" "01804" "DAG1_000114" "g.49568353C>G" "" "" "" "DAG1(NM_001165928.3):c.409C>G (p.(Arg137Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885908" "0" "50" "3" "49569325" "49569325" "subst" "8.12229E-6" "01804" "DAG1_000115" "g.49569325C>T" "" "" "" "DAG1(NM_001165928.3):c.1381C>T (p.(Arg461Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911969" "0" "30" "3" "49548235" "49548235" "subst" "0.000126167" "01804" "DAG1_000116" "g.49548235A>C" "" "" "" "DAG1(NM_001165928.3):c.268A>C (p.(Ser90Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911970" "0" "30" "3" "49568543" "49568543" "subst" "0.00201407" "01804" "DAG1_000035" "g.49568543C>G" "" "" "" "DAG1(NM_001165928.3):c.599C>G (p.T200S, p.(Thr200Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911971" "0" "50" "3" "49569737" "49569737" "subst" "4.06742E-6" "01804" "DAG1_000117" "g.49569737G>A" "" "" "" "DAG1(NM_001165928.3):c.1793G>A (p.(Arg598His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928809" "0" "30" "3" "49570296" "49570296" "subst" "0.000191102" "01804" "DAG1_000118" "g.49570296C>T" "" "" "" "DAG1(NM_001165928.3):c.2352C>T (p.(Thr784=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931504" "0" "90" "3" "49568776" "49568776" "del" "0" "03565" "DAG1_000119" "g.49568776del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49531343del" "" "pathogenic" "" "0000931505" "0" "90" "3" "49569862" "49569862" "subst" "0" "03565" "DAG1_000120" "g.49569862C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49532429C>T" "" "pathogenic" "" "0000931506" "0" "90" "3" "49569869" "49569870" "del" "0" "03565" "DAG1_000121" "g.49569869_49569870del" "" "" "" "g.49569868del" "" "Germline" "" "" "0" "" "" "g.49532436_49532437del" "" "pathogenic" "" "0000931507" "0" "90" "3" "49548038" "49548039" "del" "0" "03565" "DAG1_000122" "g.49548038_49548039del" "" "" "" "49548036del" "" "Germline" "" "" "0" "" "" "g.49510605_49510606del" "" "pathogenic" "" "0000931508" "0" "90" "3" "49569213" "49569213" "del" "0" "03565" "DAG1_000123" "g.49569213del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49531780del" "" "pathogenic" "" "0000931509" "0" "90" "3" "49548131" "49548131" "subst" "0" "03565" "DAG1_000124" "g.49548131C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49510698C>G" "" "pathogenic" "" "0000931510" "0" "90" "3" "49568274" "49568274" "subst" "0" "03565" "DAG1_000125" "g.49568274G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49530841G>A" "" "pathogenic" "" "0000975899" "0" "30" "3" "49568328" "49568328" "subst" "0.000812856" "01804" "DAG1_000126" "g.49568328G>T" "" "" "" "DAG1(NM_001165928.3):c.384G>T (p.(Val128=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975900" "0" "50" "3" "49568851" "49568853" "del" "0" "01804" "DAG1_000127" "g.49568851_49568853del" "" "" "" "DAG1(NM_004393.6):c.907_909del (p.(Lys303del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034048" "0" "50" "3" "49570271" "49570271" "subst" "2.03566E-5" "01804" "DAG1_000102" "g.49570271G>A" "" "" "" "DAG1(NM_004393.6):c.2327G>A (p.(Arg776His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 DAG1 ## Count = 180 "{{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}}" "0000265198" "00006081" "10" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(His752=)" "" "0000265201" "00006081" "10" "41" "0" "41" "0" "c.41=" "r.(=)" "p.(Trp14=)" "" "0000267271" "00006081" "10" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(His752=)" "" "0000267272" "00006081" "10" "41" "0" "41" "0" "c.41=" "r.(=)" "p.(Trp14=)" "" "0000274740" "00006081" "30" "1149" "0" "1149" "0" "c.1149C>A" "r.(?)" "p.(Gly383=)" "" "0000274741" "00006081" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Val411=)" "" "0000274742" "00006081" "30" "1611" "0" "1611" "0" "c.1611C>T" "r.(?)" "p.(Thr537=)" "" "0000274743" "00006081" "10" "1701" "0" "1701" "0" "c.1701C>T" "r.(?)" "p.(Ser567=)" "" "0000274744" "00006081" "30" "2124" "0" "2124" "0" "c.2124G>A" "r.(?)" "p.(Thr708=)" "" "0000274745" "00006081" "30" "2460" "0" "2460" "0" "c.2460G>A" "r.(?)" "p.(Gln820=)" "" "0000274746" "00006081" "10" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Asp111Asn)" "" "0000274747" "00006081" "50" "599" "0" "599" "0" "c.599C>G" "r.(?)" "p.(Thr200Ser)" "" "0000329413" "00006081" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Glu118=)" "" "0000329414" "00006081" "50" "925" "0" "925" "0" "c.925C>T" "r.(?)" "p.(Arg309Cys)" "" "0000329415" "00006081" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(Ala757=)" "" "0000408229" "00006081" "70" "2571" "0" "2571" "0" "c.2571T>G" "r.(?)" "p.(Asp857Glu)" "" "0000435999" "00006081" "30" "1236" "0" "1236" "0" "c.1236G>Y" "r.(?)" "p.(Glu412Asp)" "6" "0000436000" "00006081" "30" "1453" "0" "1455" "0" "c.(1453_1455?>?)" "r.(?)" "p.(Ser485Arg)" "6" "0000436001" "00006081" "90" "1778" "0" "1778" "0" "c.(1778T>A)" "r.(?)" "(p.Ile593Asp)" "6" "0000436002" "00006081" "90" "1165" "0" "1165" "0" "c.(1165C>T)" "r.(?)" "p.(Arg389*)" "6" "0000436003" "00006081" "30" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(=)" "6" "0000436004" "00006081" "10" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(=)" "6" "0000436005" "00006081" "30" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(=)" "6" "0000436006" "00006081" "30" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(=)" "6" "0000436007" "00006081" "30" "2256" "0" "2256" "0" "c.2256C>T" "r.(?)" "p.(=)" "6" "0000436008" "00006081" "90" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Thr192Met)" "6" "0000436009" "00006081" "70" "-729" "0" "5104" "0" "c.(?_-729)_(*2416_?)del" "r.0" "p.0" "1_6" "0000436010" "00006081" "70" "1480" "0" "1480" "0" "c.1480A>C" "r.(?)" "p.(Asn494His)" "6" "0000436011" "00006081" "30" "489" "0" "489" "0" "c.489G>T" "r.(?)" "p.(Glu163Asp)" "6" "0000436012" "00006081" "30" "489" "0" "489" "0" "c.489G>T" "r.(?)" "p.(Glu163Asp)" "6" "0000436013" "00006081" "30" "742" "0" "742" "0" "c.742G>C" "r.(?)" "p.(Ala248Pro)" "6" "0000436014" "00006081" "30" "742" "0" "742" "0" "c.742G>C" "r.(?)" "p.(Ala248Pro)" "6" "0000436015" "00006081" "30" "1124" "0" "1124" "0" "c.1124C>G" "r.(?)" "p.(Ala375Gly)" "6" "0000436016" "00006081" "30" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "6" "0000436017" "00006081" "30" "2612" "0" "2612" "0" "c.2612C>T" "r.(?)" "p.(Ala871Val)" "6" "0000436018" "00006081" "30" "2726" "0" "2726" "0" "c.*38G>C" "r.(?)" "p.(=)" "6" "0000436019" "00006081" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(=)" "6" "0000436020" "00006081" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(=)" "6" "0000436021" "00006081" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(=)" "6" "0000436022" "00006081" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(=)" "6" "0000436023" "00006081" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(=)" "6" "0000436024" "00006081" "30" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(=)" "6" "0000436025" "00006081" "90" "575" "0" "575" "0" "c.(575C>T)" "r.(?)" "p.(Thr192Met)" "6" "0000436026" "00006081" "50" "41" "0" "41" "0" "c.41G>C" "r.(?)" "p.(Trp14Ser)" "5" "0000436027" "00006081" "50" "285" "42" "285" "42" "c.285+42T>C" "r.(?)" "p.(=)" "5i" "0000436028" "00006081" "50" "286" "-135" "286" "-135" "c.286-135G>A" "r.(?)" "p.(=)" "5i" "0000436029" "00006081" "50" "1773" "0" "1773" "0" "c.1773C>T" "r.(?)" "p.(=)" "6" "0000436030" "00006081" "50" "1773" "0" "1773" "0" "c.1773C>T" "r.(?)" "p.(=)" "6" "0000436031" "00006081" "50" "2938" "0" "2938" "0" "c.*250T>C" "r.(?)" "p.(=)" "6" "0000436032" "00006081" "50" "2938" "0" "2938" "0" "c.*250T>C" "r.(?)" "p.(=)" "6" "0000436033" "00006081" "50" "3518" "0" "3518" "0" "c.*830G>T" "r.(?)" "p.(=)" "6" "0000436034" "00006081" "50" "4196" "0" "4196" "0" "c.*1508A>G" "r.(?)" "p.(=)" "6" "0000436035" "00006081" "50" "4950" "0" "4950" "0" "c.*2262T>C" "r.(?)" "p.(=)" "6" "0000436036" "00006081" "50" "-116" "-291" "-116" "-291" "c.-116-291T>G" "r.(?)" "p.(=)" "4i" "0000436037" "00006081" "90" "575" "0" "575" "0" "c.575C>T" "r.(575c>u)" "p.Thr192Met" "6" "0000436038" "00006081" "10" "575" "0" "575" "0" "c.575C>T" "r.(575c>u)" "p.Thr192Met" "6" "0000436039" "00006081" "50" "2470" "0" "2470" "0" "c.2470G>A" "r.(?)" "p.(Ala824Thr)" "6" "0000436040" "00006081" "50" "2472" "0" "2472" "0" "c.2472T>C" "r.(?)" "p.(=)" "6" "0000436041" "00006081" "50" "4029" "0" "4029" "0" "c.*1341C>T" "r.(?)" "p.(=)" "6" "0000436042" "00006081" "50" "4835" "0" "4835" "0" "c.*2147G>C" "r.(?)" "p.(=)" "6" "0000436043" "00006081" "50" "4905" "0" "4905" "0" "c.*2217G>C" "r.(?)" "p.(=)" "6" "0000462472" "00006081" "50" "2069" "0" "2069" "0" "c.2069C>T" "r.(?)" "p.(Pro690Leu)" "3" "0000462473" "00006081" "50" "1690" "0" "1690" "0" "c.1690C>A" "r.(?)" "p.(Leu564Ile)" "3" "0000462474" "00006081" "50" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Ile93Thr)" "2" "0000462475" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "3" "0000462476" "00006081" "50" "2035" "0" "2035" "0" "c.2035C>T" "r.(?)" "p.(Arg679Cys)" "3" "0000462477" "00006081" "50" "932" "0" "932" "0" "c.932G>C" "r.(?)" "p.(Arg311Pro)" "3" "0000462478" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "3" "0000462479" "00006081" "50" "2069" "0" "2069" "0" "c.2069C>T" "r.(?)" "p.(Pro690Leu)" "3" "0000462480" "00006081" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "2" "0000462481" "00006081" "50" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" "3" "0000462482" "00006081" "50" "185" "0" "185" "0" "c.185C>T" "r.(?)" "p.(Pro62Leu)" "2" "0000462483" "00006081" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Pro427Leu)" "3" "0000462484" "00006081" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "40" "0000462485" "00006081" "50" "1308" "0" "1308" "0" "c.1308G>A" "r.(?)" "p.(=)" "3" "0000462486" "00006081" "50" "258" "0" "258" "0" "c.258G>C" "r.(?)" "p.(Leu86Phe)" "2" "0000462487" "00006081" "50" "599" "0" "599" "0" "c.599C>G" "r.(?)" "p.(Thr200Ser)" "3" "0000462488" "00006081" "50" "634" "0" "634" "0" "c.634C>A" "r.(?)" "p.(His212Asn)" "3" "0000462489" "00006081" "50" "599" "0" "599" "0" "c.599C>G" "r.(?)" "p.(Thr200Ser)" "3" "0000462490" "00006081" "50" "2141" "0" "2141" "0" "c.2141G>T" "r.(?)" "p.(Arg714Leu)" "3" "0000462491" "00006081" "50" "599" "0" "599" "0" "c.599C>G" "r.(?)" "p.(Thr200Ser)" "3" "0000462492" "00006081" "50" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Met50Val)" "2" "0000462493" "00006081" "50" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(Asn232Ser)" "3" "0000462494" "00006081" "50" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652Trp)" "3" "0000462495" "00006081" "50" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Thr322Ile)" "3" "0000462496" "00006081" "50" "2510" "0" "2510" "0" "c.2510C>G" "r.(?)" "p.(Pro837Arg)" "3" "0000462497" "00006081" "50" "2510" "0" "2510" "0" "c.2510C>G" "r.(?)" "p.(Pro837Arg)" "3" "0000462498" "00006081" "50" "2171" "0" "2171" "0" "c.2171C>G" "r.(?)" "p.(Pro724Arg)" "3" "0000462499" "00006081" "50" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Arg457Gln)" "3" "0000462500" "00006081" "50" "2192" "0" "2192" "0" "c.2192C>T" "r.(?)" "p.(Ala731Val)" "3" "0000462501" "00006081" "50" "1306" "0" "1306" "0" "c.1306A>G" "r.(?)" "p.(Thr436Ala)" "3" "0000462502" "00006081" "50" "278" "0" "278" "0" "c.278T>C" "r.(?)" "p.(Ile93Thr)" "2" "0000462503" "00006081" "50" "634" "0" "634" "0" "c.634C>A" "r.(?)" "p.(His212Asn)" "3" "0000462504" "00006081" "50" "2618" "0" "2618" "0" "c.2618T>C" "r.(?)" "p.(Met873Thr)" "3" "0000462505" "00006081" "50" "1774" "0" "1774" "0" "c.1774G>A" "r.(?)" "p.(Glu592Lys)" "3" "0000462506" "00006081" "50" "1370" "0" "1370" "0" "c.1370G>A" "r.(?)" "p.(Arg457Gln)" "3" "0000462507" "00006081" "50" "2039" "0" "2039" "0" "c.2039G>A" "r.(?)" "p.(Arg680Gln)" "3" "0000462508" "00006081" "50" "1205" "0" "1205" "0" "c.1205G>T" "r.(?)" "p.(Arg402Leu)" "3" "0000462509" "00006081" "50" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Thr351Ala)" "3" "0000462510" "00006081" "50" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Met405Ile)" "3" "0000462511" "00006081" "50" "2326" "0" "2326" "0" "c.2326C>G" "r.(?)" "p.(Arg776Gly)" "3" "0000462512" "00006081" "50" "1877" "0" "1879" "0" "c.1877_1879del" "r.(?)" "p.(Lys626del)" "3" "0000462513" "00006081" "70" "1257" "0" "1257" "0" "c.1257del" "r.(?)" "p.(Thr421Glnfs*86)" "3" "0000462514" "00006081" "50" "1571" "0" "1571" "0" "c.1571A>G" "r.(?)" "p.(Tyr524Cys)" "3" "0000462515" "00006081" "50" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Pro493Ser)" "3" "0000462516" "00006081" "50" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652Trp)" "3" "0000462517" "00006081" "50" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Thr404Ala)" "3" "0000462518" "00006081" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Trp)" "3" "0000462519" "00006081" "50" "2082" "0" "2082" "0" "c.2082C>T" "r.(?)" "p.(=)" "3" "0000462520" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "3" "0000462521" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "3" "0000462522" "00006081" "50" "1690" "0" "1690" "0" "c.1690C>A" "r.(?)" "p.(Leu564Ile)" "3" "0000462523" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "3" "0000462524" "00006081" "50" "1641" "0" "1641" "0" "c.1641C>T" "r.(?)" "p.(=)" "3" "0000462525" "00006081" "50" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(=)" "3" "0000462526" "00006081" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Trp)" "3" "0000462527" "00006081" "50" "1051" "0" "1051" "0" "c.1051A>G" "r.(?)" "p.(Thr351Ala)" "3" "0000462528" "00006081" "50" "1105" "0" "1105" "0" "c.1105A>G" "r.(?)" "p.(Thr369Ala)" "3" "0000462529" "00006081" "50" "93" "0" "93" "0" "c.93G>T" "r.(?)" "p.(Trp31Cys)" "2" "0000462530" "00006081" "50" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Thr436Met)" "3" "0000462531" "00006081" "50" "623" "0" "623" "0" "c.623T>C" "r.(?)" "p.(Ile208Thr)" "3" "0000462532" "00006081" "50" "539" "0" "539" "0" "c.539C>T" "r.(?)" "p.(Ser180Phe)" "3" "0000462533" "00006081" "50" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Pro158Leu)" "3" "0000462534" "00006081" "50" "1454" "0" "1454" "0" "c.1454G>A" "r.(?)" "p.(Ser485Asn)" "3" "0000462535" "00006081" "50" "1360" "0" "1360" "0" "c.1360C>T" "r.(?)" "p.(Arg454Trp)" "3" "0000462536" "00006081" "50" "2083" "0" "2083" "0" "c.2083G>A" "r.(?)" "p.(Ala695Thr)" "3" "0000462537" "00006081" "70" "45" "0" "45" "0" "c.45del" "r.(?)" "p.(Arg16Glyfs*65)" "2" "0000462538" "00006081" "50" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(His129Tyr)" "3" "0000462539" "00006081" "50" "1799" "0" "1799" "0" "c.1799A>G" "r.(?)" "p.(Gln600Arg)" "3" "0000462540" "00006081" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Pro427Leu)" "3" "0000462541" "00006081" "50" "1280" "0" "1280" "0" "c.1280C>T" "r.(?)" "p.(Pro427Leu)" "3" "0000462542" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "3" "0000462543" "00006081" "50" "1807" "0" "1807" "0" "c.1807A>G" "r.(?)" "p.(Arg603Gly)" "3" "0000462544" "00006081" "50" "1215" "0" "1215" "0" "c.1215G>A" "r.(?)" "p.(Met405Ile)" "3" "0000462545" "00006081" "70" "2597" "0" "2597" "0" "c.2597dup" "r.(?)" "p.(Pro867Thrfs*105)" "3" "0000520205" "00006081" "30" "-116" "-4" "-116" "-4" "c.-116-4dup" "r.spl?" "p.?" "" "0000520206" "00006081" "50" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Met50Val)" "" "0000520207" "00006081" "30" "258" "0" "258" "0" "c.258G>C" "r.(?)" "p.(Leu86Phe)" "" "0000520208" "00006081" "30" "259" "0" "259" "0" "c.259A>G" "r.(?)" "p.(Ile87Val)" "" "0000520209" "00006081" "30" "286" "-10" "286" "-10" "c.286-10del" "r.(=)" "p.(=)" "" "0000520211" "00006081" "10" "2938" "0" "2938" "0" "c.*250T>C" "r.(=)" "p.(=)" "" "0000597295" "00006081" "50" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Gly583Arg)" "" "0000597296" "00006081" "50" "2327" "0" "2327" "0" "c.2327G>A" "r.(?)" "p.(Arg776His)" "" "0000608773" "00006081" "30" "599" "0" "599" "0" "c.599C>G" "r.(?)" "p.(Thr200Ser)" "" "0000608774" "00006081" "30" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Trp)" "" "0000608775" "00006081" "30" "2219" "0" "2219" "0" "c.2219A>G" "r.(?)" "p.(Asp740Gly)" "" "0000608776" "00006081" "30" "2406" "0" "2406" "0" "c.2406C>T" "r.(?)" "p.(Asp802=)" "" "0000621291" "00006081" "30" "2036" "0" "2036" "0" "c.2036G>A" "r.(?)" "p.(Arg679His)" "" "0000651287" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "" "0000654989" "00006081" "50" "1315" "0" "1315" "0" "c.1315A>G" "r.(?)" "p.(Thr439Ala)" "" "0000677049" "00006081" "30" "258" "0" "258" "0" "c.258G>C" "r.(?)" "p.(Leu86Phe)" "" "0000677050" "00006081" "30" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Arg)" "" "0000684747" "00006081" "10" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Asp111Asn)" "" "0000689109" "00006081" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Gly66Ser)" "" "0000719504" "00006081" "50" "1022" "0" "1022" "0" "c.1022C>T" "r.(?)" "p.(Thr341Ile)" "" "0000719505" "00006081" "70" "2543" "0" "2543" "0" "c.2543dup" "r.(?)" "p.(Glu849ArgfsTer8)" "" "0000801300" "00006081" "30" "258" "0" "258" "0" "c.258G>C" "r.(?)" "p.(Leu86Phe)" "" "0000801301" "00006081" "50" "1130" "0" "1130" "0" "c.1130T>C" "r.(?)" "p.(Ile377Thr)" "" "0000821793" "00006081" "90" "2326" "0" "2326" "0" "c.2326C>T" "r.(?)" "p.(Arg776Cys)" "" "0000833038" "00006081" "70" "337" "0" "340" "0" "c.337_340del" "r.(?)" "p.(Gln113AlafsTer20)" "" "0000833171" "00006081" "70" "2228" "0" "2228" "0" "c.2228A>C" "r.(?)" "p.(Lys743Thr)" "" "0000850372" "00006081" "30" "-116" "-4" "-116" "-4" "c.-116-4dup" "r.spl?" "p.?" "" "0000859085" "00006081" "50" "1210" "0" "1210" "0" "c.1210A>G" "r.(?)" "p.(Thr404Ala)" "" "0000859086" "00006081" "50" "1690" "0" "1690" "0" "c.1690C>T" "r.(?)" "p.(Leu564Phe)" "" "0000885907" "00006081" "30" "409" "0" "409" "0" "c.409C>G" "r.(?)" "p.(Arg137Gly)" "" "0000885908" "00006081" "50" "1381" "0" "1381" "0" "c.1381C>T" "r.(?)" "p.(Arg461Trp)" "" "0000911969" "00006081" "30" "268" "0" "268" "0" "c.268A>C" "r.(?)" "p.(Ser90Arg)" "" "0000911970" "00006081" "30" "599" "0" "599" "0" "c.599C>G" "r.(?)" "p.(Thr200Ser)" "" "0000911971" "00006081" "50" "1793" "0" "1793" "0" "c.1793G>A" "r.(?)" "p.(Arg598His)" "" "0000928809" "00006081" "30" "2352" "0" "2352" "0" "c.2352C>T" "r.(?)" "p.(Thr784=)" "" "0000931504" "00006081" "90" "832" "0" "832" "0" "c.832del" "r.(?)" "p.(Glu278Argfs*105)" "" "0000931505" "00006081" "90" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640*)" "" "0000931506" "00006081" "90" "1925" "0" "1926" "0" "c.1925_1926del" "r.(?)" "p.(Cys642*)" "" "0000931507" "00006081" "90" "71" "0" "72" "0" "c.71_72del" "r.(?)" "p.(Val24Glyfs*10)" "" "0000931508" "00006081" "90" "1269" "0" "1269" "0" "c.1269del" "r.(?)" "p.(Thr424Profs*83)" "" "0000931509" "00006081" "90" "164" "0" "164" "0" "c.164C>G" "r.(?)" "p.(Ser55*)" "" "0000931510" "00006081" "90" "330" "0" "330" "0" "c.330G>A" "r.(?)" "p.(Trp110*)" "" "0000975899" "00006081" "30" "384" "0" "384" "0" "c.384G>T" "r.(?)" "p.(=)" "" "0000975900" "00006081" "50" "907" "0" "909" "0" "c.907_909del" "r.(?)" "p.(Lys303del)" "" "0001034048" "00006081" "50" "2327" "0" "2327" "0" "c.2327G>A" "r.(?)" "p.(Arg776His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 116 "{{screeningid}}" "{{variantid}}" "0000184221" "0000408229" "0000206427" "0000435999" "0000206428" "0000436000" "0000206429" "0000436001" "0000206430" "0000436002" "0000206431" "0000436003" "0000206432" "0000436004" "0000206433" "0000436005" "0000206434" "0000436006" "0000206434" "0000436007" "0000206435" "0000436008" "0000206436" "0000436009" "0000206437" "0000436010" "0000206438" "0000436011" "0000206439" "0000436012" "0000206440" "0000436013" "0000206441" "0000436014" "0000206442" "0000436015" "0000206443" "0000436016" "0000206444" "0000436017" "0000206445" "0000436018" "0000206446" "0000436019" "0000206446" "0000436020" "0000206447" "0000436021" "0000206447" "0000436022" "0000206448" "0000436023" "0000206448" "0000436024" "0000206449" "0000436025" "0000220579" "0000462472" "0000220593" "0000462473" "0000220679" "0000462474" "0000220822" "0000462475" "0000220850" "0000462476" "0000220857" "0000462477" "0000220965" "0000462478" "0000220988" "0000462479" "0000220993" "0000462480" "0000220998" "0000462481" "0000221002" "0000462482" "0000221095" "0000462483" "0000221124" "0000462484" "0000221138" "0000462485" "0000221243" "0000462486" "0000221278" "0000462487" "0000221349" "0000462488" "0000221392" "0000462489" "0000221404" "0000462490" "0000221404" "0000462491" "0000221505" "0000462492" "0000221519" "0000462493" "0000221575" "0000462494" "0000221730" "0000462495" "0000221733" "0000462496" "0000221760" "0000462497" "0000221769" "0000462498" "0000221800" "0000462499" "0000221912" "0000462500" "0000221952" "0000462501" "0000222026" "0000462502" "0000222034" "0000462503" "0000222074" "0000462504" "0000222109" "0000462505" "0000222113" "0000462506" "0000222114" "0000462507" "0000222129" "0000462508" "0000222286" "0000462509" "0000222292" "0000462510" "0000222296" "0000462511" "0000222298" "0000462512" "0000222308" "0000462513" "0000222345" "0000462514" "0000222368" "0000462545" "0000222396" "0000462515" "0000222476" "0000462516" "0000222537" "0000462517" "0000222578" "0000462518" "0000222682" "0000462519" "0000222698" "0000462520" "0000222706" "0000462521" "0000222768" "0000462522" "0000222857" "0000462523" "0000222873" "0000462524" "0000222903" "0000462525" "0000222927" "0000462526" "0000222978" "0000462527" "0000222997" "0000462528" "0000223000" "0000462529" "0000223052" "0000462530" "0000223103" "0000462531" "0000223107" "0000462532" "0000223219" "0000462533" "0000223353" "0000462534" "0000223479" "0000462535" "0000223486" "0000462536" "0000223503" "0000462537" "0000223527" "0000462538" "0000223540" "0000462539" "0000223568" "0000462540" "0000223598" "0000462541" "0000223599" "0000462542" "0000223620" "0000462543" "0000223731" "0000462544" "0000266590" "0000597295" "0000266591" "0000597296" "0000294598" "0000651287" "0000309845" "0000684747" "0000391867" "0000821793" "0000400231" "0000833038" "0000400231" "0000833171" "0000436837" "0000931504" "0000436838" "0000931505" "0000436839" "0000931506" "0000436840" "0000931507" "0000436841" "0000931508" "0000436842" "0000931509" "0000436843" "0000931510"