### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COMP) # 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}}" "COMP" "cartilage oligomeric matrix protein" "19" "p13.1" "unknown" "NG_007070.1" "UD_132085437187" "" "http://www.LOVD.nl/COMP" "" "1" "2227" "1311" "600310" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/COMP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-10-14 12:03:38" "00006" "2025-11-20 13:57:32" ## 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}}" "00005519" "COMP" "cartilage oligomeric matrix protein" "001" "NM_000095.2" "" "NP_000086.2" "" "" "" "-36" "2416" "2274" "18902114" "18893583" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00689" "SEDC" "dysplasia, spondyloepiphyseal, congenita (SEDC)" "AD" "183900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01316" "EDM1" "dysplasia, epiphyseal, multiple, type 1 (EDM-1)" "AD" "132400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01528" "PSACH" "pseudoachondroplasia (PSACH)" "AD" "177170" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-03-22 09:56:43" "04257" "EDM" "dysplasia, epiphyseal, multiple (EDM)" "" "" "" "" "" "00006" "2015-05-08 12:04:11" "" "" "05155" "OPLL" "ossification, posterior longitudinal ligament spine (OPLL)" "" "" "" "" "" "00006" "2016-04-14 16:02:41" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06887" "dysplasia, bone" "dysplasia, bone" "" "" "" "" "" "00006" "2021-12-27 10:53:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COMP" "01316" "COMP" "01528" ## Individuals ## Do not remove or alter this header ## ## Count = 218 "{{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}}" "00081439" "" "" "" "1" "" "01783" "" "" "" "" "China" "" "0" "" "" "Han" "" "00247798" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247799" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247800" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247801" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247802" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247803" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247804" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247805" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247806" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247807" "" "" "" "3" "" "00000" "" "3-generation family" "" "" "South Africa" "" "0" "" "" "" "" "00247808" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247809" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247810" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247811" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247812" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247813" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247814" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247815" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247816" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247817" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247818" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247819" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247820" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247821" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247822" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247823" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247824" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247825" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247826" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247827" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247828" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247829" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247830" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247831" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247832" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247833" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247834" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247835" "" "" "" "3" "" "00000" "" "family, 3 affecteds" "" "" "" "" "0" "" "" "" "" "00247836" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247837" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247838" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247839" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247840" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247841" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247842" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247843" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247844" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247845" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247846" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247847" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247848" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247849" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247850" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247851" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247852" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247853" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247854" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247855" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247856" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247857" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247858" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247859" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247860" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247861" "" "" "" "11" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247862" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247863" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247864" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247865" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247866" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247867" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247868" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247869" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247870" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247871" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247872" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247873" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247874" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247875" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247876" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247877" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247878" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247879" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247880" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247881" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247882" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247883" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247884" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247885" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247886" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247887" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247888" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247889" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247890" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247891" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247892" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247893" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247894" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247895" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247896" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247897" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247898" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247899" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247900" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247901" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247902" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247903" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247904" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247905" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247906" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247907" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247908" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247909" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247910" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247911" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247912" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247913" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247914" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247915" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247916" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247917" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247918" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247919" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247920" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247921" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247922" "" "" "" "4" "" "02972" "" "family, 4 affecteds" "" "" "" "" "0" "" "" "" "" "00247923" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247924" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247925" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247926" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247927" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247928" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247929" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247930" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247931" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247932" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247933" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247934" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247935" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247936" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247937" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247938" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247939" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247940" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247941" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247942" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247943" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247944" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247945" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247946" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247947" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247948" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247949" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247950" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247951" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247952" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247953" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247954" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247955" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247956" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247957" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247958" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247959" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247960" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247961" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247962" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247963" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247964" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247965" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247966" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247967" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247968" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247969" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247970" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247971" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247972" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247973" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247974" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247975" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247976" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247977" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247978" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247979" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247980" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247981" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247982" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247983" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247984" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247985" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247986" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247987" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00247988" "" "" "" "1" "" "00000" "" "" "" "" "" "" "0" "" "" "" "" "00247989" "" "" "" "1" "" "02972" "" "" "" "" "" "" "0" "" "" "" "" "00292067" "" "" "" "170" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304650" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331383" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "" "15DG1149" "00359401" "" "" "" "1" "" "03149" "" "" "M" "no" "Brazil" "" "" "" "" "" "03149" "00359402" "" "" "" "1" "" "03149" "" "" "F" "no" "Brazil" "" "" "" "" "" "03149" "00359409" "" "" "" "1" "" "03149" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "no" "Brazil" "" "0" "" "" "" "Pat58" "00359499" "" "" "" "1" "" "01396" "" "" "" "" "Brazil" "" "" "" "" "" "" "00380813" "" "" "" "1" "" "00000" "{PMID:Nair 2018:30293248}" "" "?" "" "Lebanon" "" "0" "" "" "" "?" "00397604" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "M" "" "China" "" "0" "" "" "" "Tab3-Pat2" "00397605" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "F" "" "China" "" "0" "" "" "" "Tab3-Pat3" "00397606" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "M" "" "China" "" "0" "" "" "" "Tab3-Pat4" "00397607" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "M" "" "China" "" "0" "" "" "" "Tab3-Pat5" "00397608" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "M" "" "China" "" "0" "" "" "" "Tab3-Pat6" "00397609" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "M" "" "China" "" "0" "" "" "" "Tab3-Pat7" "00397610" "" "" "" "1" "" "00006" "{PMID:Zhang 2015:26377240}" "" "F" "" "China" "" "0" "" "" "" "Tab3-Pat8" "00416121" "" "" "" "1" "" "01411" "{PMID:Hasegawa 2023:37842142}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat4" "00416124" "" "" "" "1" "" "01411" "{PMID:Hasegawa 2023:37842142}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat5" "00416125" "" "" "" "1" "" "01411" "{PMID:Hasegawa 2023:37842142}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat1" "00416126" "" "" "" "1" "" "01411" "{PMID:Hasegawa 2023:37842142}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Japan" "" "0" "" "" "" "Pat3" "00416127" "" "" "" "1" "" "01411" "{PMID:Hasegawa 2023:37842142}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Japan" "" "0" "" "" "" "Pat2" "00449783" "" "" "" "1" "" "04689" "" "" "" "" "" "" "" "" "" "" "" "00469789" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, affected child/father" "" "" "India" "" "0" "" "" "" "" "00469790" "" "" "" "2" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, affected brother/sister, unaffected parents" "F;M" "" "India" "" "0" "" "" "" "" "00469791" "" "" "" "2" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "India" "" "0" "" "" "" "" "00469792" "" "" "" "1" "" "00006" "{PMID:Jacob 2025:39706863}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 219 "{{individualid}}" "{{diseaseid}}" "00081439" "05155" "00247798" "01528" "00247799" "01528" "00247800" "01528" "00247801" "01528" "00247802" "01528" "00247803" "01528" "00247804" "01528" "00247805" "01528" "00247806" "01528" "00247807" "01316" "00247808" "01528" "00247809" "01528" "00247810" "01528" "00247811" "01528" "00247812" "01316" "00247813" "01316" "00247814" "01528" "00247815" "01316" "00247816" "01528" "00247817" "01528" "00247818" "01528" "00247819" "01528" "00247820" "01316" "00247821" "01528" "00247822" "01316" "00247823" "01528" "00247824" "01528" "00247825" "01528" "00247826" "01528" "00247827" "01528" "00247828" "01528" "00247829" "01528" "00247830" "01528" "00247831" "01528" "00247832" "01528" "00247833" "01528" "00247834" "01528" "00247835" "01316" "00247836" "01528" "00247837" "01316" "00247838" "01528" "00247839" "01528" "00247840" "01528" "00247841" "01528" "00247842" "01528" "00247843" "01528" "00247844" "01528" "00247845" "01528" "00247846" "01528" "00247847" "01528" "00247848" "01528" "00247849" "01528" "00247850" "01528" "00247851" "01528" "00247852" "01528" "00247853" "01528" "00247854" "01316" "00247855" "01528" "00247856" "01528" "00247857" "01316" "00247858" "01316" "00247859" "01528" "00247860" "01528" "00247861" "00689" "00247861" "01528" "00247862" "01316" "00247863" "01528" "00247864" "01316" "00247865" "01316" "00247866" "01528" "00247867" "01316" "00247868" "01528" "00247869" "01528" "00247870" "01528" "00247871" "01316" "00247872" "01528" "00247873" "01528" "00247874" "01316" "00247875" "01316" "00247876" "00198" "00247877" "01528" "00247878" "01316" "00247879" "01528" "00247880" "01528" "00247881" "01528" "00247882" "01528" "00247883" "01316" "00247884" "01316" "00247885" "01528" "00247886" "01316" "00247887" "01528" "00247888" "01316" "00247889" "01316" "00247890" "01316" "00247891" "01316" "00247892" "01316" "00247893" "01316" "00247894" "01528" "00247895" "01528" "00247896" "01316" "00247897" "01528" "00247898" "01316" "00247899" "01528" "00247900" "01528" "00247901" "01528" "00247902" "01528" "00247903" "01316" "00247904" "01316" "00247905" "01316" "00247906" "01316" "00247907" "01316" "00247908" "01528" "00247909" "01528" "00247910" "01316" "00247911" "01316" "00247912" "01316" "00247913" "01316" "00247914" "01316" "00247915" "01316" "00247916" "01528" "00247917" "01528" "00247918" "01528" "00247919" "01528" "00247920" "01528" "00247921" "01316" "00247922" "01528" "00247923" "01528" "00247924" "01528" "00247925" "01528" "00247926" "01316" "00247927" "01528" "00247928" "01316" "00247929" "01316" "00247930" "01316" "00247931" "01316" "00247932" "01528" "00247933" "01316" "00247934" "01316" "00247935" "01316" "00247936" "01316" "00247937" "01316" "00247938" "01528" "00247939" "01316" "00247940" "01528" "00247941" "01316" "00247942" "01316" "00247943" "00198" "00247944" "01316" "00247945" "01316" "00247946" "01316" "00247947" "01316" "00247948" "01528" "00247949" "01528" "00247950" "01528" "00247951" "01316" "00247952" "01528" "00247953" "01528" "00247954" "01528" "00247955" "01528" "00247956" "01528" "00247957" "01528" "00247958" "01316" "00247959" "01316" "00247960" "01316" "00247961" "01528" "00247962" "01528" "00247963" "01528" "00247964" "01316" "00247965" "01316" "00247966" "01528" "00247967" "01528" "00247968" "01528" "00247969" "01316" "00247970" "01316" "00247971" "01316" "00247972" "01528" "00247973" "01528" "00247974" "00198" "00247975" "01316" "00247976" "01316" "00247977" "01316" "00247978" "01316" "00247979" "01528" "00247980" "01316" "00247981" "01528" "00247982" "00198" "00247983" "01528" "00247984" "01316" "00247985" "01316" "00247986" "01528" "00247987" "01316" "00247988" "00000" "00247989" "01316" "00292067" "00198" "00304650" "00198" "00331383" "05517" "00359401" "01528" "00359402" "01528" "00359409" "04257" "00359499" "01528" "00380813" "01528" "00397604" "06887" "00397605" "06887" "00397606" "06887" "00397607" "06887" "00397608" "06887" "00397609" "06887" "00397610" "06887" "00416121" "01528" "00416124" "01528" "00416125" "01528" "00416126" "01528" "00416127" "01528" "00449783" "01528" "00469789" "05517" "00469790" "05517" "00469791" "05517" "00469792" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00689, 01316, 01528, 04257, 05155, 05517, 06887 ## Count = 80 "{{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}}" "0000061041" "05155" "00081439" "01783" "Unknown" "" "thoracic ossification of the ligamentum flavum;\r\nlocalized at the thoracolumbar" "" "" "" "" "" "" "" "" "" "" "" "0000186998" "01528" "00247806" "02972" "Unknown" "" "moderately severe" "" "" "" "" "" "" "" "" "" "" "" "0000186999" "01316" "00247807" "00000" "Familial" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187000" "01316" "00247822" "02972" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187001" "01528" "00247836" "00000" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187002" "01316" "00247837" "00000" "Unknown" "" "Fairbank" "" "" "" "" "" "" "" "" "" "" "" "0000187003" "01528" "00247838" "00000" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187004" "01528" "00247839" "00000" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187005" "01528" "00247840" "00000" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187006" "01528" "00247841" "00000" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187007" "01528" "00247842" "00000" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187008" "01528" "00247843" "00000" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187009" "01528" "00247844" "00000" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187010" "01528" "00247845" "00000" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187011" "01528" "00247846" "00000" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187012" "01528" "00247860" "00000" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187013" "01528" "00247863" "00000" "Isolated (sporadic)" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187014" "01316" "00247864" "00000" "Familial" "" "ribbing" "" "" "" "" "" "" "" "" "" "" "" "0000187015" "01316" "00247865" "00000" "Isolated (sporadic)" "" "Fairbank" "" "" "" "" "" "" "" "" "" "" "" "0000187016" "01528" "00247866" "00000" "Isolated (sporadic)" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187017" "01316" "00247867" "00000" "Isolated (sporadic)" "" "Fairbank" "" "" "" "" "" "" "" "" "" "" "" "0000187018" "01528" "00247868" "00000" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187019" "01528" "00247869" "00000" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187020" "01528" "00247870" "00000" "Familial" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187021" "01316" "00247871" "00000" "Isolated (sporadic)" "" "Fairbank" "" "" "" "" "" "" "" "" "" "" "" "0000187022" "01528" "00247872" "00000" "Isolated (sporadic)" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000187023" "01528" "00247873" "00000" "Isolated (sporadic)" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187024" "01316" "00247874" "00000" "Familial" "" "ribbing" "" "" "" "" "" "" "" "" "" "" "" "0000187025" "01316" "00247875" "00000" "Familial" "" "Fairbank" "" "" "" "" "" "" "" "" "" "" "" "0000187026" "01316" "00247921" "02972" "Unknown" "" "severe" "" "" "" "" "" "" "" "" "" "" "" "0000187027" "01528" "00247922" "02972" "Familial" "" "moderately severe" "" "" "" "" "" "" "" "" "" "" "" "0000187028" "00198" "00247943" "02972" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "mild pseudoachondroplasia or multiple epiphyseal dysplasia" "" "0000187029" "00198" "00247974" "02972" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "mild pseudoachondroplasia or multiple epiphyseal dysplasia" "" "0000187030" "00198" "00247982" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "mild pseudoachondroplasia or multiple epiphyseal dysplasia" "" "0000187031" "00198" "00247876" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "probably pseudoachondroplasia" "" "0000187032" "01316" "00247934" "02972" "Unknown" "" "atypical" "" "" "" "" "" "" "" "" "" "" "" "0000187033" "01316" "00247937" "02972" "Familial" "" "atypical" "" "" "" "" "" "" "" "" "" "" "" "0000187034" "01316" "00247985" "02972" "Unknown" "" "atypical" "" "" "" "" "" "" "" "" "" "" "" "0000187035" "01316" "00247930" "02972" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187036" "01316" "00247944" "02972" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187037" "01528" "00247882" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187038" "01528" "00247925" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187039" "01528" "00247927" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187040" "01528" "00247932" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187041" "01528" "00247949" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187042" "01528" "00247968" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187043" "01316" "00247978" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187044" "01316" "00247984" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187045" "01528" "00247986" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187046" "01316" "00247987" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187047" "01528" "00247798" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187048" "01316" "00247820" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187049" "01528" "00247821" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187050" "01316" "00247858" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187051" "01316" "00247926" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187052" "01316" "00247936" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187053" "01316" "00247975" "02972" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187054" "01316" "00247835" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187055" "01528" "00247799" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187056" "01528" "00247800" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000187057" "01528" "00247834" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249575" "05517" "00331383" "00000" "Familial, autosomal dominant" "" "Non-Arab ( Short stature" "" "" "" "" "" "" "" "" "Multiple epiphyseal dysplasia andpseudoachondroplasia group" "skeletal dysplasia" "" "0000274666" "01528" "00380813" "00000" "Familial" "" "Short stature; abnormal bones (Skeletal)" "" "" "" "" "" "" "" "" "Pseudoachondroplasia" "" "" "0000290728" "06887" "00397604" "00006" "Isolated (sporadic)" "5y7m" "see paper; ..." "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000290729" "06887" "00397605" "00006" "Isolated (sporadic)" "5y7m" "see paper; ..." "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000290730" "06887" "00397606" "00006" "Isolated (sporadic)" "4y10m" "see paper; ..." "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000290731" "06887" "00397607" "00006" "Isolated (sporadic)" "2y3m" "see paper; ..." "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000290732" "06887" "00397608" "00006" "Isolated (sporadic)" "2y6m" "see paper; ..." "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000290733" "06887" "00397609" "00006" "Isolated (sporadic)" "2y" "see paper; ..." "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000290734" "06887" "00397610" "00006" "Isolated (sporadic)" "3y" "see paper; ..." "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000307887" "01528" "00416121" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000307890" "01528" "00416124" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000307891" "01528" "00416125" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000307892" "01528" "00416126" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000307893" "01528" "00416127" "01411" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338928" "01528" "00449783" "04689" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000354934" "05517" "00469789" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "PSACH" "skeletal dysplasia" "" "0000354935" "05517" "00469790" "00006" "Unknown" "" "see paper; ..., pseudoachondroplasia, biotinidase deficiency" "" "" "" "" "" "" "" "" "PSACH;BTDD" "pseudoachondroplasia" "" "0000354936" "05517" "00469791" "00006" "Isolated (sporadic)" "" "see paper; ..., pseudoachondroplasia, brachydactyly" "" "" "" "" "" "" "" "" "PSACH" "pseudoachondroplasia" "" "0000354937" "05517" "00469792" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "PSACH" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 218 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081585" "00081439" "1" "01783" "01783" "2016-10-14 04:20:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000248904" "00247798" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248905" "00247799" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248906" "00247800" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248907" "00247801" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248908" "00247802" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248909" "00247803" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248910" "00247804" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248911" "00247805" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248912" "00247806" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248913" "00247807" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248914" "00247808" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248915" "00247809" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248916" "00247810" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248917" "00247811" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248918" "00247812" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248919" "00247813" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248920" "00247814" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248921" "00247815" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248922" "00247816" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248923" "00247817" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248924" "00247818" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248925" "00247819" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248926" "00247820" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248927" "00247821" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248928" "00247822" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248929" "00247823" "1" "00000" "00006" 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"2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248941" "00247835" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248942" "00247836" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248943" "00247837" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248944" "00247838" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248945" "00247839" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248946" "00247840" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248947" "00247841" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248948" "00247842" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248949" "00247843" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248950" "00247844" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248951" "00247845" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248952" "00247846" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248953" "00247847" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248954" "00247848" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248955" "00247849" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248956" "00247850" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248957" "00247851" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248958" "00247852" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248959" "00247853" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248960" "00247854" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248961" "00247855" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248962" "00247856" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248963" "00247857" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248964" "00247858" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248965" "00247859" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248966" "00247860" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248967" "00247861" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248968" "00247862" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248969" "00247863" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248970" "00247864" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248971" "00247865" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248972" "00247866" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248973" "00247867" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248974" "00247868" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248975" "00247869" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248976" "00247870" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248977" "00247871" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248978" "00247872" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248979" "00247873" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248980" "00247874" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248981" "00247875" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248982" "00247876" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248983" "00247877" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248984" "00247878" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248985" "00247879" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248986" "00247880" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248987" "00247881" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248988" "00247882" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248989" "00247883" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248990" "00247884" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248991" "00247885" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248992" "00247886" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248993" "00247887" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248994" "00247888" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248995" "00247889" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248996" "00247890" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248997" "00247891" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248998" "00247892" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000248999" "00247893" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249000" "00247894" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249001" "00247895" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249002" "00247896" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249003" "00247897" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249004" "00247898" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249005" "00247899" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249006" "00247900" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249007" "00247901" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249008" "00247902" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249009" "00247903" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249010" "00247904" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249011" "00247905" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249012" "00247906" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249013" "00247907" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249014" "00247908" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249015" "00247909" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249016" "00247910" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249017" "00247911" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249018" "00247912" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249019" "00247913" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249020" "00247914" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249021" "00247915" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249022" "00247916" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249023" "00247917" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249024" "00247918" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249025" "00247919" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249026" "00247920" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249027" "00247921" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249028" "00247922" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249029" "00247923" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249030" "00247924" "1" "00000" "00006" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249031" "00247925" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249032" "00247926" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249033" "00247927" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249034" "00247928" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249035" "00247929" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249036" "00247930" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249037" "00247931" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249038" "00247932" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249039" "00247933" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249040" "00247934" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249041" "00247935" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249042" "00247936" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249043" "00247937" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249044" "00247938" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249045" "00247939" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249046" "00247940" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249047" "00247941" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249048" "00247942" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249049" "00247943" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249050" "00247944" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249051" "00247945" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249052" "00247946" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249053" "00247947" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249054" "00247948" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249055" "00247949" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249056" "00247950" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249057" "00247951" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249058" "00247952" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249059" "00247953" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249060" "00247954" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249061" "00247955" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249062" "00247956" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249063" "00247957" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249064" "00247958" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249065" "00247959" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249066" "00247960" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249067" "00247961" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249068" "00247962" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249069" "00247963" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249070" "00247964" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249071" "00247965" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249072" "00247966" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249073" "00247967" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249074" "00247968" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249075" "00247969" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249076" "00247970" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249077" "00247971" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249078" "00247972" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249079" "00247973" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249080" "00247974" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249081" "00247975" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249082" "00247976" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249083" "00247977" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249084" "00247978" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249085" "00247979" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249086" "00247980" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249087" "00247981" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249088" "00247982" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249089" "00247983" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249090" "00247984" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249091" "00247985" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249092" "00247986" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249093" "00247987" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000249094" "00247988" "1" "00000" "00006" "2011-10-19 23:58:35" "" "" "SEQ" "DNA" "" "" "0000249095" "00247989" "1" "02972" "02972" "2011-10-19 23:58:34" "" "" "SEQ" "DNA" "" "" "0000293235" "00292067" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305779" "00304650" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332602" "00331383" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360643" "00359401" "1" "03149" "03149" "2021-03-20 17:38:18" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000360644" "00359402" "1" "03149" "03149" "2021-03-20 17:44:31" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000360651" "00359409" "1" "03149" "03149" "2021-03-20 18:52:01" "" "" "SEQ-NG-I" "DNA" "bllod" "" "0000360729" "00359499" "1" "01396" "01396" "2021-03-23 03:29:00" "" "" "SEQ-NG-I" "DNA" "" "" "0000382027" "00380813" "1" "00000" "03840" "2021-08-23 12:15:23" "" "" "SEQ-NG-I" "DNA" "" "whole exome sequencing" "0000398842" "00397604" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398843" "00397605" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398844" "00397606" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398845" "00397607" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398846" "00397608" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398847" "00397609" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000398848" "00397610" "1" "00006" "00006" "2021-12-27 11:55:19" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000417400" "00416121" "1" "01411" "01411" "2022-08-23 11:47:00" "" "" "SEQ" "DNA" "" "" "0000417403" "00416124" "1" "01411" "01411" "2022-08-23 11:47:00" "" "" "SEQ" "DNA" "" "" "0000417404" "00416125" "1" "01411" "01411" "2022-08-23 11:47:00" "" "" "SEQ" "DNA" "" "" "0000417405" "00416126" "1" "01411" "01411" "2022-08-23 11:47:00" "" "" "SEQ" "DNA" "" "" "0000417406" "00416127" "1" "01411" "01411" "2022-08-23 11:47:00" "" "" "SEQ" "DNA" "" "" "0000451378" "00449783" "1" "04689" "04689" "2024-05-15 08:59:31" "" "" "SEQ-NG" "DNA" "" "" "0000471457" "00469789" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471458" "00469790" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471459" "00469791" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000471460" "00469792" "1" "00006" "00006" "2025-11-20 12:33:13" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 201 "{{screeningid}}" "{{geneid}}" "0000081585" "COMP" "0000248904" "COMP" "0000248905" "COMP" "0000248906" "COMP" "0000248907" "COMP" "0000248908" "COMP" "0000248909" "COMP" "0000248910" "COMP" "0000248911" "COMP" "0000248912" "COMP" "0000248913" "COMP" "0000248914" "COMP" "0000248915" "COMP" "0000248916" "COMP" "0000248917" "COMP" "0000248918" "COMP" "0000248919" "COMP" "0000248920" "COMP" "0000248921" "COMP" "0000248922" "COMP" "0000248923" "COMP" "0000248924" "COMP" "0000248925" "COMP" "0000248926" "COMP" "0000248927" "COMP" "0000248928" "COMP" "0000248929" "COMP" "0000248930" "COMP" "0000248931" "COMP" "0000248932" "COMP" "0000248933" "COMP" "0000248934" "COMP" "0000248935" "COMP" "0000248936" "COMP" "0000248937" "COMP" "0000248938" "COMP" "0000248939" "COMP" "0000248940" "COMP" "0000248941" "COMP" "0000248942" "COMP" "0000248943" "COMP" "0000248944" "COMP" "0000248945" "COMP" "0000248946" "COMP" "0000248947" "COMP" "0000248948" "COMP" "0000248949" "COMP" "0000248950" "COMP" "0000248951" "COMP" "0000248952" "COMP" "0000248953" "COMP" "0000248954" "COMP" "0000248955" "COMP" "0000248956" "COMP" "0000248957" "COMP" "0000248958" "COMP" "0000248959" "COMP" "0000248960" "COMP" "0000248961" "COMP" "0000248962" "COMP" "0000248963" "COMP" "0000248964" "COMP" "0000248965" "COMP" "0000248966" "COMP" "0000248967" "COMP" "0000248968" "COMP" "0000248969" "COMP" "0000248970" "COMP" "0000248971" "COMP" "0000248972" "COMP" "0000248973" "COMP" "0000248974" "COMP" "0000248975" "COMP" "0000248976" "COMP" "0000248977" "COMP" "0000248978" "COMP" "0000248979" "COMP" "0000248980" "COMP" "0000248981" "COMP" "0000248982" "COMP" "0000248983" "COMP" "0000248984" "COMP" "0000248985" "COMP" "0000248986" "COMP" "0000248987" "COMP" "0000248988" "COMP" "0000248989" "COMP" "0000248990" "COMP" "0000248991" "COMP" "0000248992" "COMP" "0000248993" "COMP" "0000248994" "COMP" "0000248995" "COMP" "0000248996" "COMP" "0000248997" "COMP" "0000248998" "COMP" "0000248999" "COMP" "0000249000" "COMP" "0000249001" "COMP" "0000249002" "COMP" "0000249003" "COMP" "0000249004" "COMP" "0000249005" "COMP" "0000249006" "COMP" "0000249007" "COMP" "0000249008" "COMP" "0000249009" "COMP" "0000249010" "COMP" "0000249011" "COMP" "0000249012" "COMP" "0000249013" "COMP" "0000249014" "COMP" "0000249015" "COMP" "0000249016" "COMP" "0000249017" "COMP" "0000249018" "COMP" "0000249019" "COMP" "0000249020" "COMP" "0000249021" "COMP" "0000249022" "COMP" "0000249023" "COMP" "0000249024" "COMP" "0000249025" "COMP" "0000249026" "COMP" "0000249027" "COMP" "0000249028" "COMP" "0000249029" "COMP" "0000249030" "COMP" "0000249031" "COMP" "0000249032" "COMP" "0000249033" "COMP" "0000249034" "COMP" "0000249035" "COMP" "0000249036" "COMP" "0000249037" "COMP" "0000249038" "COMP" "0000249039" "COMP" "0000249040" "COMP" "0000249041" "COMP" "0000249042" "COMP" "0000249043" "COMP" "0000249044" "COMP" "0000249045" "COMP" "0000249046" "COMP" "0000249047" "COMP" "0000249048" "COMP" "0000249049" "COMP" "0000249050" "COMP" "0000249051" "COMP" "0000249052" "COMP" "0000249053" "COMP" "0000249054" "COMP" "0000249055" "COMP" "0000249056" "COMP" "0000249057" "COMP" "0000249058" "COMP" "0000249059" "COMP" "0000249060" "COMP" "0000249061" "COMP" "0000249062" "COMP" "0000249063" "COMP" "0000249064" "COMP" "0000249065" "COMP" "0000249066" "COMP" "0000249067" "COMP" "0000249068" "COMP" "0000249069" "COMP" "0000249070" "COMP" "0000249071" "COMP" "0000249072" "COMP" "0000249073" "COMP" "0000249074" "COMP" "0000249075" "COMP" "0000249076" "COMP" "0000249077" "COMP" "0000249078" "COMP" "0000249079" "COMP" "0000249080" "COMP" "0000249081" "COMP" "0000249082" "COMP" "0000249083" "COMP" "0000249084" "COMP" "0000249085" "COMP" "0000249086" "COMP" "0000249087" "COMP" "0000249088" "COMP" "0000249089" "COMP" "0000249090" "COMP" "0000249091" "COMP" "0000249092" "COMP" "0000249093" "COMP" "0000249094" "COMP" "0000249095" "COMP" "0000332602" "COMP" "0000360729" "COMP" "0000417400" "COMP" "0000417403" "COMP" "0000417404" "COMP" "0000417405" "COMP" "0000417406" "COMP" "0000451378" "COMP" ## 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 = 372 "{{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}}" "0000132249" "0" "50" "19" "18899676" "18899676" "subst" "0" "01783" "COMP_000131" "g.18899676A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.18788867A>G" "" "VUS" "" "0000339056" "0" "90" "19" "18897395" "18897395" "subst" "0" "02327" "COMP_000133" "g.18897395C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18786585C>A" "" "pathogenic" "" "0000501877" "1" "95" "19" "18899128" "18899128" "subst" "0" "00000" "COMP_000039" "g.18899128C>T" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18788319C>T" "" "pathogenic" "" "0000501878" "1" "95" "19" "18898411" "18898411" "subst" "0" "02972" "COMP_000106" "g.18898411C>A" "" "{PMID:Briggs 1995:7670472}, {OMIM600310:0005}" "RsaI+" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787602C>A" "" "pathogenic" "" "0000501879" "1" "95" "19" "18898315" "18898315" "subst" "0" "02972" "COMP_000099" "g.18898315C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787506C>T" "" "pathogenic" "" "0000501880" "1" "95" "19" "18897351" "18897351" "subst" "0" "02972" "COMP_000102" "g.18897351G>C" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18786541G>C" "" "pathogenic" "" "0000501881" "1" "95" "19" "18899103" "18899103" "subst" "0" "02972" "COMP_000096" "g.18899103G>A" "" "" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18788294G>A" "" "pathogenic" "" "0000501882" "1" "95" "19" "18899064" "18899064" "subst" "0" "02972" "COMP_000124" "g.18899064G>T" "" "" "" "" "conserved functional residue in N-type motif; normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18788255G>T" "" "pathogenic" "" "0000501883" "1" "95" "19" "18898459" "18898459" "subst" "0" "02972" "COMP_000126" "g.18898459C>A" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787650C>A" "" "pathogenic" "" "0000501884" "1" "95" "19" "18898458" "18898458" "subst" "0" "02972" "COMP_000127" "g.18898458T>C" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787649T>C" "" "pathogenic" "" "0000501885" "1" "95" "19" "18898413" "18898418" "del" "0" "00000" "COMP_000070" "g.18898413_18898418del" "" "{PMID:Kennedy 2005:15756302}" "" "1021_1026delGAGGAC" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787604_18787609del" "" "pathogenic" "" "0000501886" "1" "95" "19" "18898413" "18898418" "del" "0" "02972" "COMP_000070" "g.18898413_18898418del" "" "" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787604_18787609del" "" "pathogenic" "" "0000501887" "1" "95" "19" "18898336" "18898404" "del" "0" "02972" "COMP_000110" "g.18898336_18898404del" "" "" "" "" "deletion of conserved functional residues in C- and N-type motifs; normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787527_18787595del" "" "pathogenic" "" "0000501888" "1" "95" "19" "18898302" "18898302" "subst" "0" "02972" "COMP_000111" "g.18898302T>A" "" "" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18787493T>A" "" "pathogenic" "" "0000501889" "1" "95" "19" "18896928" "18896928" "subst" "0" "02972" "COMP_000010" "g.18896928C>T" "" "" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18786118C>T" "" "pathogenic" "" "0000501890" "1" "95" "19" "18896607" "18896607" "subst" "0" "02972" "COMP_000122" "g.18896607T>C" "" "" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18785797T>C" "" "pathogenic" "" "0000501891" "1" "95" "19" "18893938" "18893938" "subst" "0" "02972" "COMP_000094" "g.18893938C>G" "" "" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18783128C>G" "" "pathogenic" "" "0000501892" "1" "95" "19" "18896895" "18896897" "del" "0" "00000" "COMP_000050" "g.18896895_18896897del" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18786085_18786087del" "" "pathogenic" "" "0000501893" "1" "95" "19" "18896846" "18896846" "subst" "0" "00000" "COMP_000041" "g.18896846T>C" "" "{PMID:Ikegawa 1998:09921895}, {OMIM600310:0010}" "" "" "carries interstitial 11q deletion; normal 2nd chromosome" "De novo" "" "" "0" "" "" "g.18786036T>C" "" "pathogenic" "" "0000501894" "1" "95" "19" "18899259" "18899259" "subst" "4.2264E-6" "00000" "COMP_000053" "g.18899259G>C" "" "{PMID:Czarny-Ratajczak 2001:11565064}" "" "" "absent in controls; normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18788450G>C" "" "pathogenic" "" "0000501895" "1" "95" "19" "18898453" "18898453" "subst" "0" "02972" "COMP_000107" "g.18898453A>G" "" "{PMID:Briggs 1995:7670472}, {OMIM600310:0006}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18787644A>G" "" "pathogenic" "" "0000501896" "1" "95" "19" "18898392" "18898392" "subst" "0" "02972" "COMP_000109" "g.18898392C>A" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18787583C>A" "" "pathogenic" "" "0000501897" "1" "95" "19" "18898323" "18898323" "subst" "0" "00000" "COMP_000058" "g.18898323C>A" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18787514C>A" "" "pathogenic" "" "0000501898" "1" "95" "19" "18897443" "18897443" "subst" "0" "02972" "COMP_000059" "g.18897443C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18786633C>T" "" "pathogenic" "" "0000501899" "1" "95" "19" "18897443" "18897443" "subst" "0" "02972" "COMP_000112" "g.18897443C>A" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18786633C>A" "" "pathogenic" "" "0000501900" "1" "95" "19" "18896850" "18896850" "subst" "0" "00000" "COMP_000001" "g.18896850C>A" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0001}" "" "1439G>T" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18786040C>A" "" "pathogenic" "" "0000501901" "1" "95" "19" "18896814" "18896814" "subst" "0" "00000" "COMP_000060" "g.18896814A>C" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18786004A>C" "" "pathogenic" "" "0000501902" "1" "95" "19" "18896582" "18896582" "subst" "0" "00000" "COMP_000006" "g.18896582G>C" "" "{PMID:Ballo 1997:09021009}, {OMIM600310:0008}" "" "1594C>G" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18785772G>C" "" "pathogenic" "" "0000501903" "1" "95" "19" "18895866" "18895866" "subst" "0" "02972" "COMP_000018" "g.18895866G>C" "" "{PMID:Briggs 1998:09463320}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18785056G>C" "" "pathogenic" "" "0000501904" "1" "95" "19" "18895866" "18895866" "subst" "0" "02972" "COMP_000019" "g.18895866G>A" "" "{PMID:Briggs 1998:09463320}" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18785056G>A" "" "pathogenic" "" "0000501905" "1" "95" "19" "18895866" "18895866" "subst" "0" "02972" "COMP_000019" "g.18895866G>A" "" "" "" "" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18785056G>A" "" "pathogenic" "" "0000501906" "1" "95" "19" "18893939" "18893939" "subst" "0" "00000" "COMP_000065" "g.18893939G>A" "" "{PMID:Mabuchi 2003:12483304}, {OMIM600310:0017}" "" "" "absent in controls; normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18783129G>A" "" "pathogenic" "" "0000501907" "1" "95" "19" "18893868" "18893868" "dup" "0" "00000" "COMP_000064" "g.18893868dup" "" "{PMID:Mabuchi 2003:12483304}, {OMIM600310:0016}" "" "2223_2224insC" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18783058dup" "" "pathogenic" "" "0000501908" "1" "95" "19" "18896858" "18896860" "dup" "0" "00000" "COMP_000033" "g.18896858_18896860dup" "" "{PMID:Delot et al 1999:09887340}, {OMIM600310:0012}" "" "1417_1419dupGAC" "normal 2nd chromosome" "Germline" "" "" "0" "" "" "g.18786048_18786050dup" "" "pathogenic" "" "0000501909" "1" "95" "19" "18898520" "18899079" "del" "0" "00000" "COMP_000063" "g.18898520_18899079del" "" "{PMID:Mabuchi 2003:12483304}, {OMIM600310:0015}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787711_18788270del" "" "pathogenic" "" "0000501910" "1" "95" "19" "18898383" "18898383" "subst" "0" "00000" "COMP_000057" "g.18898383C>T" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787574C>T" "" "pathogenic" "" "0000501911" "1" "95" "19" "18897443" "18897443" "subst" "0" "00000" "COMP_000059" "g.18897443C>T" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786633C>T" "" "pathogenic" "" "0000501912" "1" "95" "19" "18896954" "18896954" "subst" "0" "00000" "COMP_000043" "g.18896954T>C" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786144T>C" "" "pathogenic" "" "0000501913" "1" "95" "19" "18896887" "18896889" "del" "0" "00000" "COMP_000003" "g.18896887_18896889del" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0003}" "" "1400_1402delTCA" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786077_18786079del" "" "pathogenic" "" "0000501914" "1" "95" "19" "18896861" "18896861" "subst" "0" "00000" "COMP_000002" "g.18896861C>T" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0002}" "" "1428G>A" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786051C>T" "" "pathogenic" "" "0000501915" "1" "95" "19" "18896855" "18896860" "dup" "0" "00000" "COMP_000032" "g.18896855_18896860dup" "" "{PMID:Delot et al 1999:09887340}, {OMIM600310:0011}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786045_18786050dup" "" "pathogenic" "" "0000501916" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000501917" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000501918" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000501919" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000501920" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000501921" "1" "95" "19" "18896646" "18896654" "del" "0" "00000" "COMP_000061" "g.18896646_18896654del" "" "{PMID:Mabuchi 2003:12483304}" "" "1501_1509delGGCGACGTG" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785836_18785844del" "" "pathogenic" "" "0000501922" "1" "95" "19" "18896624" "18896624" "subst" "0" "00000" "COMP_000062" "g.18896624A>C" "" "{PMID:Mabuchi 2003:12483304}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785814A>C" "" "pathogenic" "" "0000501923" "1" "95" "19" "18899275" "18899275" "subst" "0" "00000" "COMP_000046" "g.18899275C>G" "" "{PMID:Deere 1999:10405447}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788466C>G" "" "pathogenic" "" "0000501924" "1" "95" "19" "18899274" "18899274" "subst" "0" "00000" "COMP_000105" "g.18899274T>A" "" "{PMID:Elliott 2010:20830670}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788465T>A" "" "pathogenic" "" "0000501925" "1" "95" "19" "18899271" "18899271" "subst" "0" "00000" "COMP_000047" "g.18899271A>G" "" "{PMID:Deere 1999:10405447}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788462A>G" "" "pathogenic" "" "0000501926" "1" "95" "19" "18899259" "18899259" "subst" "4.2264E-6" "02972" "COMP_000053" "g.18899259G>C" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788450G>C" "" "pathogenic" "" "0000501927" "1" "95" "19" "18899127" "18899127" "subst" "0" "02972" "COMP_000123" "g.18899127T>C" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788318T>C" "" "pathogenic" "" "0000501928" "1" "95" "19" "18899120" "18899120" "subst" "0" "00000" "COMP_000048" "g.18899120G>C" "" "{PMID:Deere 1999:10405447}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788311G>C" "" "pathogenic" "" "0000501929" "1" "95" "19" "18899103" "18899103" "subst" "0" "00000" "COMP_000096" "g.18899103G>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788294G>A" "" "pathogenic" "" "0000501930" "1" "95" "19" "18899101" "18899101" "subst" "0" "00000" "COMP_000040" "g.18899101C>G" "" "{PMID:Ikegawa 1998:09921895}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788292C>G" "" "pathogenic" "" "0000501931" "1" "95" "19" "18899101" "18899101" "subst" "0" "02972" "COMP_000040" "g.18899101C>G" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788292C>G" "" "pathogenic" "" "0000501932" "1" "95" "19" "18899091" "18899091" "subst" "0" "00000" "COMP_000049" "g.18899091T>A" "" "{PMID:Deere 1999:10405447}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788282T>A" "" "pathogenic" "" "0000501933" "1" "95" "19" "18899071" "18899071" "subst" "0" "00000" "COMP_000022" "g.18899071C>T" "" "{PMID:Delot 1998:09756911}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788262C>T" "" "pathogenic" "" "0000501934" "1" "95" "19" "18899071" "18899071" "subst" "0" "00000" "COMP_000066" "g.18899071C>G" "" "{PMID:Nakayama 2003:12792737}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788262C>G" "" "pathogenic" "" "0000501935" "1" "95" "19" "18899067" "18899067" "subst" "1.22275E-5" "00000" "COMP_000097" "g.18899067T>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788258T>A" "" "pathogenic" "" "0000501936" "1" "95" "19" "18899046" "18899046" "subst" "0" "02972" "COMP_000125" "g.18899046T>C" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18788237T>C" "" "pathogenic" "" "0000501937" "1" "95" "19" "18898393" "18898393" "subst" "0" "00000" "COMP_000055" "g.18898393A>G" "" "{PMID:Unger 2001:11746045}, {OMIM600310:0014}, {OMIM120140:0035}" "" "" "carries also maternally inherited COL2A1 (T1370M); normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787584A>G" "" "pathogenic" "" "0000501938" "1" "95" "19" "18898389" "18898389" "subst" "0" "00000" "COMP_000034" "g.18898389T>C" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787580T>C" "" "pathogenic" "" "0000501939" "1" "95" "19" "18898354" "18898354" "subst" "0" "00000" "COMP_000011" "g.18898354C>A" "" "{PMID:Loughlin 1998:09452026}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787545C>A" "" "pathogenic" "" "0000501940" "1" "95" "19" "18898353" "18898353" "subst" "0" "00000" "COMP_000035" "g.18898353T>A" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787544T>A" "" "pathogenic" "" "0000501941" "1" "95" "19" "18898339" "18898339" "subst" "0" "00000" "COMP_000071" "g.18898339C>G" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787530C>G" "" "pathogenic" "" "0000501942" "1" "95" "19" "18898334" "18898339" "del" "0" "00000" "COMP_000012" "g.18898334_18898339del" "" "{PMID:Loughlin 1998:09452026}" "" "1099_1104delCGGGGC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787525_18787530del" "" "pathogenic" "" "0000501943" "1" "95" "19" "18898333" "18898333" "subst" "0" "00000" "COMP_000072" "g.18898333C>G" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787524C>G" "" "pathogenic" "" "0000501944" "1" "95" "19" "18898324" "18898324" "subst" "0" "00000" "COMP_000007" "g.18898324A>T" "" "{PMID:Susic 1997:09184241}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787515A>T" "" "pathogenic" "" "0000501945" "1" "95" "19" "18898324" "18898324" "subst" "0" "02972" "COMP_000007" "g.18898324A>T" "" "" "" "" "conserved functional residue in N-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787515A>T" "" "pathogenic" "" "0000501946" "1" "95" "19" "18898323" "18898323" "subst" "0" "00000" "COMP_000008" "g.18898323C>T" "" "{PMID:Susic 1997:09184241}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787514C>T" "" "pathogenic" "" "0000501947" "1" "95" "19" "18898323" "18898323" "subst" "0" "02972" "COMP_000008" "g.18898323C>T" "" "" "" "" "conserved functional residue in N-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787514C>T" "" "pathogenic" "" "0000501948" "1" "95" "19" "18898315" "18898315" "subst" "0" "00000" "COMP_000099" "g.18898315C>T" "" "{PMID:Zankl 2007:17133256}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787506C>T" "" "pathogenic" "" "0000501949" "1" "95" "19" "18898309" "18898309" "subst" "0" "00000" "COMP_000100" "g.18898309C>T" "" "{PMID:Zankl 2007:17133256}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787500C>T" "" "pathogenic" "" "0000501950" "1" "95" "19" "18898309" "18898309" "subst" "0" "02972" "COMP_000100" "g.18898309C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787500C>T" "" "pathogenic" "" "0000501951" "1" "95" "19" "18898308" "18898308" "subst" "0" "00000" "COMP_000073" "g.18898308T>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787499T>A" "" "pathogenic" "" "0000501952" "1" "95" "19" "18898303" "18898303" "subst" "0" "00000" "COMP_000074" "g.18898303C>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787494C>A" "" "pathogenic" "" "0000501953" "1" "95" "19" "18898320" "18898322" "del" "0" "02972" "COMP_000005" "g.18898320_18898322del" "" "{PMID:Briggs 1995:07670472}, {OMIM600310:0004}" "" "1145_1147delGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18787511_18787513del" "" "pathogenic" "" "0000501954" "1" "95" "19" "18897443" "18897443" "subst" "0" "02972" "COMP_000059" "g.18897443C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786633C>T" "" "pathogenic" "" "0000501955" "1" "95" "19" "18897443" "18897443" "subst" "0" "02972" "COMP_000059" "g.18897443C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786633C>T" "" "pathogenic" "" "0000501956" "1" "95" "19" "18897442" "18897444" "del" "0" "00000" "COMP_000075" "g.18897442_18897444del" "" "{PMID:Kennedy 2005:15756302}" "" "1152_1154delCGA" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786632_18786634del" "" "pathogenic" "" "0000501957" "1" "95" "19" "18897442" "18897444" "del" "0" "02972" "COMP_000075" "g.18897442_18897444del" "" "" "" "1152_1154delCGA" "deletion of conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786632_18786634del" "" "pathogenic" "" "0000501958" "1" "95" "19" "18897440" "18897442" "del" "0" "00000" "COMP_000076" "g.18897440_18897442del" "" "{PMID:Kennedy 2005:15756302}" "" "1156_1158delAAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786630_18786632del" "" "pathogenic" "" "0000501959" "1" "95" "19" "18897437" "18897437" "subst" "0" "02972" "COMP_000113" "g.18897437A>G" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786627A>G" "" "pathogenic" "" "0000501960" "1" "95" "19" "18897437" "18897437" "subst" "0" "00000" "COMP_000036" "g.18897437A>C" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786627A>C" "" "pathogenic" "" "0000501961" "1" "95" "19" "18897415" "18897426" "delins" "0" "00000" "COMP_000013" "g.18897415_18897426delinsACA" "" "{PMID:Loughlin 1998:09452026}" "" "1170_1181delACCCAACTCAGAinsTGT" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786605_18786616delinsACA" "" "pathogenic" "" "0000501962" "1" "95" "19" "18897408" "18897416" "del" "0" "00000" "COMP_000042" "g.18897408_18897416del" "" "{PMID:Deere 1999:10405447}" "" "1183_1191delCAGAAGGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786598_18786606del" "" "pathogenic" "" "0000501963" "1" "95" "19" "18897407" "18897407" "subst" "0" "02972" "COMP_000114" "g.18897407C>G" "" "" "" "" "de novo mutation in this family and conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786597C>G" "" "pathogenic" "" "0000501964" "1" "95" "19" "18897401" "18897401" "subst" "0" "00000" "COMP_000077" "g.18897401C>T" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786591C>T" "" "pathogenic" "" "0000501965" "1" "95" "19" "18897395" "18897395" "subst" "0" "00000" "COMP_000078" "g.18897395C>T" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786585C>T" "" "pathogenic" "" "0000501966" "1" "95" "19" "18897384" "18897391" "delins" "0" "02972" "COMP_000115" "g.18897384_18897391delinsACAGA" "" "" "" "" "deletion of conserved functional residues in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786574_18786581delinsACAGA" "" "pathogenic" "" "0000501967" "1" "95" "19" "18897386" "18897386" "subst" "0" "02972" "COMP_000116" "g.18897386C>T" "" "" "" "" "de novo mutation in this family and conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786576C>T" "" "pathogenic" "" "0000501968" "1" "95" "19" "18897376" "18897376" "subst" "0" "00000" "COMP_000079" "g.18897376C>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786566C>A" "" "pathogenic" "" "0000501969" "1" "95" "19" "18897374" "18897374" "subst" "0" "00000" "COMP_000014" "g.18897374C>A" "" "{PMID:Loughlin 1998:09452026}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786564C>A" "" "pathogenic" "" "0000501970" "1" "95" "19" "18897367" "18897367" "subst" "0" "00000" "COMP_000101" "g.18897367C>T" "" "{PMID:Zankl 2007:17133256}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786557C>T" "" "pathogenic" "" "0000501971" "1" "95" "19" "18897367" "18897367" "subst" "0" "02972" "COMP_000101" "g.18897367C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786557C>T" "" "pathogenic" "" "0000501972" "1" "95" "19" "18897367" "18897367" "subst" "0" "02972" "COMP_000101" "g.18897367C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786557C>T" "" "pathogenic" "" "0000501973" "1" "95" "19" "18897351" "18897351" "subst" "0" "00000" "COMP_000102" "g.18897351G>C" "" "{PMID:Zankl 2007:17133256}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786541G>C" "" "pathogenic" "" "0000501974" "1" "95" "19" "18897351" "18897351" "subst" "0" "02972" "COMP_000102" "g.18897351G>C" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786541G>C" "" "pathogenic" "" "0000501975" "1" "95" "19" "18897097" "18897097" "subst" "0" "00000" "COMP_000052" "g.18897097T>G" "" "{PMID:Czarny-Ratajczak 2001:11565064}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786287T>G" "" "pathogenic" "" "0000501976" "1" "95" "19" "18897076" "18897076" "subst" "0" "00000" "COMP_000023" "g.18897076C>T" "" "{PMID:Deere 1998:09880218}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786266C>T" "" "pathogenic" "" "0000501977" "1" "95" "19" "18897076" "18897076" "subst" "0" "02972" "COMP_000023" "g.18897076C>T" "" "" "" "" "conserved functional residue in N-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786266C>T" "" "pathogenic" "" "0000501978" "1" "95" "19" "18897062" "18897067" "delins" "0" "02972" "COMP_000117" "g.18897062_18897067delinsACCACA" "" "" "" "1289_1294del(gtgaca)ins(tgtggt)" "deletion of conserved functional residues in N-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786252_18786257delinsACCACA" "" "pathogenic" "" "0000501979" "1" "95" "19" "0" "0" "" "0" "00000" "COMP_000000" "g.?" "" "{PMID:Nakayama 2003:12792737}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000501980" "1" "95" "19" "18896954" "18896954" "subst" "0" "00000" "COMP_000043" "g.18896954T>C" "" "{PMID:Deere 1999:10405447}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786144T>C" "" "pathogenic" "" "0000501981" "1" "95" "19" "18896949" "18896949" "subst" "0" "00000" "COMP_000080" "g.18896949C>T" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786139C>T" "" "pathogenic" "" "0000501982" "1" "95" "19" "18896946" "18896946" "subst" "0" "00000" "COMP_000015" "g.18896946C>T" "" "{PMID:Loughlin 1998:09452026}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786136C>T" "" "pathogenic" "" "0000501983" "1" "95" "19" "18896946" "18896946" "subst" "0" "00000" "COMP_000015" "g.18896946C>T" "" "{PMID:Loughlin 1998:09452026}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786136C>T" "" "pathogenic" "" "0000501984" "1" "95" "19" "18896946" "18896946" "subst" "0" "02972" "COMP_000015" "g.18896946C>T" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786136C>T" "" "pathogenic" "" "0000501985" "1" "95" "19" "18896945" "18896945" "subst" "0" "02972" "COMP_000017" "g.18896945C>T" "" "{PMID:Briggs 1998:09463320}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786135C>T" "" "pathogenic" "" "0000501986" "1" "95" "19" "18896928" "18896928" "subst" "0" "00000" "COMP_000010" "g.18896928C>T" "" "{PMID:Maddox 1997:09388247}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786118C>T" "" "pathogenic" "" "0000501987" "1" "95" "19" "18896921" "18896921" "subst" "0" "02972" "COMP_000118" "g.18896921C>G" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786111C>G" "" "pathogenic" "" "0000501988" "1" "95" "19" "18896919" "18896919" "subst" "0" "00000" "COMP_000024" "g.18896919G>T" "" "{PMID:Deere 1998:09880218}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786109G>T" "" "pathogenic" "" "0000501989" "1" "95" "19" "18896917" "18896919" "del" "0" "00000" "COMP_000054" "g.18896917_18896919del" "" "{PMID:Shotelersuk 2002:11745002}" "" "1345_1347delCCC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786107_18786109del" "" "pathogenic" "" "0000501990" "1" "95" "19" "18896906" "18896906" "subst" "0" "02972" "COMP_000020" "g.18896906T>C" "" "{PMID:Briggs 1998:09463320}, {OMIM600310:0009}" "" "1383A>G" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786096T>C" "" "pathogenic" "" "0000501991" "0" "55" "19" "18896906" "18896906" "subst" "0" "00000" "COMP_000020" "g.18896906T>C" "" "" "" "" "" "Unknown" "" "rs28936668" "0" "" "" "g.18786096T>C" "" "pathogenic" "" "0000501992" "1" "95" "19" "18896904" "18896904" "subst" "0" "00000" "COMP_000068" "g.18896904T>G" "" "{PMID:Nakashima 2005:15523619}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786094T>G" "" "pathogenic" "" "0000501993" "1" "95" "19" "18896902" "18896902" "subst" "0" "00000" "COMP_000081" "g.18896902A>C" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786092A>C" "" "pathogenic" "" "0000501994" "1" "95" "19" "18896895" "18896897" "del" "0" "00000" "COMP_000050" "g.18896895_18896897del" "" "{PMID:Newman 2000:10691412}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786085_18786087del" "" "pathogenic" "" "0000501995" "1" "95" "19" "18896895" "18896897" "del" "0" "00000" "COMP_000050" "g.18896895_18896897del" "" "Ferguson 1997" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786085_18786087del" "" "pathogenic" "" "0000501996" "1" "95" "19" "18896895" "18896897" "del" "0" "02972" "COMP_000050" "g.18896895_18896897del" "" "" "" "" "deletion of conserved functional residue; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786085_18786087del" "" "pathogenic" "" "0000501997" "1" "95" "19" "18896871" "18896871" "subst" "0" "00000" "COMP_000082" "g.18896871C>G" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786061C>G" "" "pathogenic" "" "0000501998" "1" "95" "19" "18896871" "18896871" "subst" "0" "00000" "COMP_000051" "g.18896871C>A" "" "{PMID:Newman 2000:10691412}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786061C>A" "" "pathogenic" "" "0000501999" "1" "95" "19" "18896870" "18896870" "subst" "0" "00000" "COMP_000108" "g.18896870C>A" "" "Wang Hum.Genet. 2009" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786060C>A" "" "pathogenic" "" "0000502000" "1" "95" "19" "18896852" "18896860" "del" "0" "00000" "COMP_000104" "g.18896852_18896860del" "" "{PMID:Liu 2010:20819661}" "" "1411_1419delGACGACGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786042_18786050del" "" "pathogenic" "" "0000502001" "1" "95" "19" "18896852" "18896852" "subst" "0" "00000" "COMP_000069" "g.18896852T>G" "" "{PMID:Nakashima 2005:15523619}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786042T>G" "" "pathogenic" "" "0000502002" "1" "95" "19" "18896852" "18896852" "subst" "0" "00000" "COMP_000083" "g.18896852T>C" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786042T>C" "" "pathogenic" "" "0000502003" "1" "95" "19" "18896847" "18896847" "subst" "0" "00000" "COMP_000025" "g.18896847C>T" "" "{PMID:Deere 1998:09880218}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786037C>T" "" "pathogenic" "" "0000502004" "1" "95" "19" "18896847" "18896847" "subst" "0" "02972" "COMP_000119" "g.18896847C>G" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786037C>G" "" "pathogenic" "" "0000502005" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0004}" "" "1443_1445delGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502006" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0004}" "" "1443_1445delGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502007" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0004}" "" "1443_1445delGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502008" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0004}" "" "1443_1445delGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502009" "1" "95" "19" "18896858" "18896860" "del" "0" "00000" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Hecht 1995:07670471}, {OMIM600310:0004}" "" "1443_1445delGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502010" "1" "95" "19" "18896858" "18896860" "del" "0" "02972" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Briggs 1995:7670472}" "" "1443_1445delGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502011" "1" "95" "19" "18896858" "18896860" "del" "0" "02972" "COMP_000004" "g.18896858_18896860del" "" "" "" "" "common variant; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502012" "1" "95" "19" "18896858" "18896860" "del" "0" "02972" "COMP_000004" "g.18896858_18896860del" "" "" "" "" "common variant; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502013" "1" "95" "19" "18896858" "18896860" "del" "0" "02972" "COMP_000004" "g.18896858_18896860del" "" "" "" "" "common variant; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502014" "1" "95" "19" "18896858" "18896860" "del" "0" "02972" "COMP_000004" "g.18896858_18896860del" "" "" "" "" "common variant; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502015" "1" "95" "19" "18896858" "18896860" "del" "0" "02972" "COMP_000004" "g.18896858_18896860del" "" "" "" "" "common variant; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502016" "1" "95" "19" "18896858" "18896860" "del" "0" "02972" "COMP_000004" "g.18896858_18896860del" "" "" "" "" "common variant; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000502017" "1" "95" "19" "18896858" "18896860" "dup" "0" "00000" "COMP_000033" "g.18896858_18896860dup" "" "{PMID:Zankl 2007:17133256}" "" "1419_1420insGAC" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050dup" "" "pathogenic" "" "0000502018" "1" "95" "19" "18896858" "18896860" "dup" "0" "02972" "COMP_000033" "g.18896858_18896860dup" "" "" "" "1419_1420insGAC" "ins of conserved functional residues in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050dup" "" "pathogenic" "" "0000502019" "1" "95" "19" "18896858" "18896860" "dup" "0" "02972" "COMP_000033" "g.18896858_18896860dup" "" "" "" "1417_1419dupGAC" "conserved functional residues in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050dup" "" "pathogenic" "" "0000502020" "1" "95" "19" "18896858" "18896860" "dup" "0" "02972" "COMP_000033" "g.18896858_18896860dup" "" "" "" "1417_1419dupGAC" "conserved functional residues in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786048_18786050dup" "" "pathogenic" "" "0000502021" "0" "55" "19" "18896846" "18896846" "subst" "0" "00000" "COMP_000041" "g.18896846T>C" "" "" "" "" "" "Unknown" "" "rs28936669" "0" "" "" "g.18786036T>C" "" "pathogenic" "" "0000502022" "1" "95" "19" "18896841" "18896841" "subst" "0" "00000" "COMP_000026" "g.18896841C>T" "" "{PMID:Deere 1998:09880218}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786031C>T" "" "pathogenic" "" "0000502023" "1" "95" "19" "18896841" "18896841" "subst" "0" "02972" "COMP_000026" "g.18896841C>T" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786031C>T" "" "pathogenic" "" "0000502024" "1" "95" "19" "18896829" "18896829" "subst" "0" "00000" "COMP_000084" "g.18896829C>G" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786019C>G" "" "pathogenic" "" "0000502025" "1" "95" "19" "18896829" "18896829" "subst" "0" "00000" "COMP_000085" "g.18896829C>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786019C>A" "" "pathogenic" "" "0000502026" "1" "95" "19" "18896819" "18896819" "subst" "0" "00000" "COMP_000016" "g.18896819T>C" "" "{PMID:Susic 1998:09452063}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786009T>C" "" "pathogenic" "" "0000502027" "1" "95" "19" "18896819" "18896819" "subst" "0" "02972" "COMP_000016" "g.18896819T>C" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18786009T>C" "" "pathogenic" "" "0000502028" "1" "95" "19" "18896797" "18896797" "subst" "0" "00000" "COMP_000056" "g.18896797G>C" "" "{PMID:Briggs 2002:11968079}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785987G>C" "" "pathogenic" "" "0000502029" "1" "95" "19" "18896789" "18896789" "subst" "0" "00000" "COMP_000086" "g.18896789T>G" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785979T>G" "" "pathogenic" "" "0000502030" "1" "95" "19" "18896649" "18896649" "subst" "0" "02972" "COMP_000120" "g.18896649C>T" "" "" "" "" "conserved functional residue in N-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785839C>T" "" "pathogenic" "" "0000502031" "1" "95" "19" "18896649" "18896649" "subst" "0" "02972" "COMP_000120" "g.18896649C>T" "" "" "" "" "conserved functional residue in N-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785839C>T" "" "pathogenic" "" "0000502032" "1" "95" "19" "18896649" "18896649" "subst" "0" "02972" "COMP_000120" "g.18896649C>T" "" "" "" "" "conserved functional residues in N-type motif" "Unknown" "" "" "0" "" "" "g.18785839C>T" "" "pathogenic" "" "0000502033" "0" "55" "19" "18896647" "18896647" "subst" "0" "02972" "COMP_000121" "g.18896647C>A" "" "" "" "" "conserved functional residues in N-type motif" "Unknown" "" "" "0" "" "" "g.18785837C>A" "" "pathogenic" "" "0000502034" "1" "95" "19" "18896640" "18896640" "subst" "0" "00000" "COMP_000087" "g.18896640C>G" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785830C>G" "" "pathogenic" "" "0000502035" "1" "95" "19" "18896631" "18896631" "subst" "0" "00000" "COMP_000027" "g.18896631T>C" "" "{PMID:Deere 1998:09880218}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785821T>C" "" "pathogenic" "" "0000502036" "1" "95" "19" "18896631" "18896631" "subst" "0" "02972" "COMP_000027" "g.18896631T>C" "" "" "" "" "conserved functional residue; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785821T>C" "" "pathogenic" "" "0000502037" "1" "95" "19" "18896625" "18896625" "subst" "0" "00000" "COMP_000028" "g.18896625T>G" "" "{PMID:Deere 1998:09880218}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785815T>G" "" "pathogenic" "" "0000502038" "1" "95" "19" "18896625" "18896625" "subst" "0" "00000" "COMP_000029" "g.18896625T>C" "" "{PMID:Deere 1998:09880218}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785815T>C" "" "pathogenic" "" "0000502039" "1" "95" "19" "18896612" "18896623" "del" "0" "00000" "COMP_000088" "g.18896612_18896623del" "" "{PMID:Kennedy 2005:15756302}" "" "1529_1540delCAGACAAGGTGG" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785802_18785813del" "" "pathogenic" "" "0000502040" "1" "95" "19" "18896620" "18896620" "subst" "0" "00000" "COMP_000030" "g.18896620C>G" "" "{PMID:Deere 1998:09880218}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785810C>G" "" "pathogenic" "" "0000502041" "1" "95" "19" "18896620" "18896620" "subst" "0" "00000" "COMP_000067" "g.18896620C>A" "" "{PMID:Hecht 2004:15183431}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785810C>A" "" "pathogenic" "" "0000502042" "1" "95" "19" "18896619" "18896619" "subst" "0" "00000" "COMP_000103" "g.18896619T>C" "" "{PMID:Tufan 2007:17579668}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785809T>C" "" "pathogenic" "" "0000502043" "1" "95" "19" "18896619" "18896619" "subst" "0" "02972" "COMP_000103" "g.18896619T>C" "" "" "" "" "conserved functional residue in C-type motif; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785809T>C" "" "pathogenic" "" "0000502044" "1" "95" "19" "18896610" "18896621" "del" "0" "00000" "COMP_000009" "g.18896610_18896621del" "" "{PMID:Susic 1997:09184241}" "" "1537_1548delGTGGTAGACAAG" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785800_18785811del" "" "pathogenic" "" "0000502045" "1" "95" "19" "18896599" "18896599" "subst" "0" "00000" "COMP_000037" "g.18896599C>T" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785789C>T" "" "pathogenic" "" "0000502046" "1" "95" "19" "18896599" "18896599" "subst" "0" "00000" "COMP_000044" "g.18896599C>G" "" "{PMID:Deere 1999:10405447}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785789C>G" "" "pathogenic" "" "0000502047" "1" "95" "19" "18896598" "18896598" "subst" "0" "00000" "COMP_000089" "g.18896598T>C" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785788T>C" "" "pathogenic" "" "0000502048" "1" "95" "19" "18896582" "18896582" "subst" "0" "02972" "COMP_000006" "g.18896582G>C" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785772G>C" "" "pathogenic" "" "0000502049" "1" "95" "19" "18896582" "18896582" "subst" "0" "02972" "COMP_000006" "g.18896582G>C" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785772G>C" "" "pathogenic" "" "0000502050" "1" "95" "19" "18896582" "18896582" "subst" "0" "02972" "COMP_000006" "g.18896582G>C" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785772G>C" "" "pathogenic" "" "0000502051" "1" "95" "19" "18896572" "18896572" "subst" "0" "00000" "COMP_000021" "g.18896572T>C" "" "{PMID:Hecht 1998:09749943}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785762T>C" "" "pathogenic" "" "0000502052" "1" "95" "19" "18896565" "18896565" "subst" "0" "00000" "COMP_000090" "g.18896565G>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785755G>A" "" "pathogenic" "" "0000502053" "1" "95" "19" "18896565" "18896565" "subst" "0" "02972" "COMP_000090" "g.18896565G>A" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785755G>A" "" "pathogenic" "" "0000502054" "1" "95" "19" "18896565" "18896565" "subst" "0" "02972" "COMP_000090" "g.18896565G>A" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785755G>A" "" "pathogenic" "" "0000502055" "1" "95" "19" "18896486" "18896486" "subst" "0" "00000" "COMP_000091" "g.18896486G>T" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785676G>T" "" "pathogenic" "" "0000502056" "1" "95" "19" "18896486" "18896486" "subst" "0" "00000" "COMP_000092" "g.18896486G>C" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785676G>C" "" "pathogenic" "" "0000502057" "1" "95" "19" "18895873" "18895873" "subst" "0" "00000" "COMP_000045" "g.18895873C>T" "" "{PMID:Deere 1999:10405447}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785063C>T" "" "pathogenic" "" "0000502058" "1" "95" "19" "18895866" "18895866" "subst" "0" "02972" "COMP_000018" "g.18895866G>C" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785056G>C" "" "pathogenic" "" "0000502059" "1" "95" "19" "18895860" "18895860" "subst" "0" "00000" "COMP_000031" "g.18895860T>C" "" "{PMID:Deere 1998:09880218}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18785050T>C" "" "pathogenic" "" "0000502060" "1" "95" "19" "18895807" "18895807" "subst" "0" "00000" "COMP_000093" "g.18895807C>T" "" "{PMID:Kennedy 2005:15756302}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18784997C>T" "" "pathogenic" "" "0000502061" "1" "95" "19" "18895046" "18895046" "subst" "0" "00000" "COMP_000098" "g.18895046G>C" "" "{PMID:Kennedy 2005:15880723}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18784236G>C" "" "pathogenic" "" "0000502062" "1" "95" "19" "18893939" "18893939" "subst" "0" "00000" "COMP_000065" "g.18893939G>A" "" "{PMID:Jakkula 2003:14684695}, {OMIM600310:0017}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783129G>A" "" "pathogenic" "" "0000502063" "1" "95" "19" "18893939" "18893939" "subst" "0" "00000" "COMP_000065" "g.18893939G>A" "" "{PMID:Kennedy 2005:15756302}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783129G>A" "" "pathogenic" "" "0000502064" "1" "95" "19" "18893939" "18893939" "subst" "0" "02972" "COMP_000065" "g.18893939G>A" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783129G>A" "" "pathogenic" "" "0000502065" "1" "95" "19" "18893939" "18893939" "subst" "0" "02972" "COMP_000065" "g.18893939G>A" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783129G>A" "" "pathogenic" "" "0000502066" "0" "55" "19" "18893939" "18893939" "subst" "0" "00000" "COMP_000065" "g.18893939G>A" "" "" "" "" "" "Unknown" "" "rs28936368" "0" "" "" "g.18783129G>A" "" "pathogenic" "" "0000502067" "1" "95" "19" "18893938" "18893938" "subst" "0" "00000" "COMP_000094" "g.18893938C>G" "" "{PMID:Kennedy 2005:15756302}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783128C>G" "" "pathogenic" "" "0000502068" "1" "95" "19" "18893936" "18893936" "subst" "0" "00000" "COMP_000095" "g.18893936C>T" "" "{PMID:Kennedy 2005:15756302}" "" "" "absent in controls; normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783126C>T" "" "pathogenic" "" "0000502069" "1" "95" "19" "18893936" "18893936" "subst" "0" "02972" "COMP_000095" "g.18893936C>T" "" "" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783126C>T" "" "pathogenic" "" "0000502070" "1" "95" "19" "18893935" "18893935" "subst" "0" "00000" "COMP_000038" "g.18893935C>T" "" "{PMID:Ikegawa 1998:09921895}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783125C>T" "" "pathogenic" "" "0000502071" "1" "95" "19" "18893935" "18893935" "subst" "0" "00000" "COMP_000038" "g.18893935C>T" "" "{PMID:Mabuchi 2001:11746044}, {OMIM600310:0013}" "" "" "normal 2nd chromosome" "Unknown" "" "" "0" "" "" "g.18783125C>T" "" "pathogenic" "" "0000566633" "0" "30" "19" "18893732" "18893732" "subst" "0.0163158" "01804" "COMP_000134" "g.18893732T>C" "" "" "" "COMP(NM_000095.2):c.2267A>G (p.(Gln756Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18782922T>C" "" "likely benign" "" "0000566634" "0" "30" "19" "18893737" "18893737" "subst" "0.000346862" "01804" "COMP_000135" "g.18893737C>T" "" "" "" "COMP(NM_000095.2):c.2262G>A (p.(Leu754=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18782927C>T" "" "likely benign" "" "0000566635" "0" "30" "19" "18893846" "18893846" "subst" "9.01935E-5" "01804" "COMP_000136" "g.18893846C>T" "" "" "" "COMP(NM_000095.2):c.2227+18G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18783036C>T" "" "likely benign" "" "0000566636" "0" "10" "19" "18893856" "18893856" "subst" "0.00350143" "01804" "COMP_000137" "g.18893856C>T" "" "" "" "COMP(NM_000095.2):c.2227+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18783046C>T" "" "benign" "" "0000566637" "0" "90" "19" "18893863" "18893863" "subst" "0" "01943" "COMP_000138" "g.18893863C>G" "" "" "" "COMP(NM_000095.2):c.2227+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18783053C>G" "" "pathogenic" "" "0000566638" "0" "70" "19" "18893890" "18893890" "subst" "0" "01804" "COMP_000139" "g.18893890C>T" "" "" "" "COMP(NM_000095.2):c.2201G>A (p.(Trp734Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18783080C>T" "" "likely pathogenic" "" "0000566639" "0" "50" "19" "18894001" "18894001" "subst" "1.66668E-5" "01804" "COMP_000140" "g.18894001A>G" "" "" "" "COMP(NM_000095.2):c.2090T>C (p.(Val697Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18783191A>G" "" "VUS" "" "0000566640" "0" "30" "19" "18895132" "18895132" "subst" "0.00187631" "01804" "COMP_000141" "g.18895132G>A" "" "" "" "COMP(NM_000095.2):c.1956C>T (p.(Asn652=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18784322G>A" "" "likely benign" "" "0000566641" "0" "30" "19" "18896463" "18896463" "subst" "0.000476311" "01804" "COMP_000142" "g.18896463C>A" "" "" "" "COMP(NM_000095.2):c.1668+20G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785653C>A" "" "likely benign" "" "0000566642" "0" "30" "19" "18896470" "18896470" "subst" "0.00391633" "01804" "COMP_000143" "g.18896470A>C" "" "" "" "COMP(NM_000095.2):c.1668+13T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785660A>C" "" "likely benign" "" "0000566643" "0" "30" "19" "18896564" "18896564" "subst" "8.14074E-6" "01804" "COMP_000144" "g.18896564G>A" "" "" "" "COMP(NM_000095.2):c.1587C>T (p.(Thr529=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785754G>A" "" "likely benign" "" "0000566644" "0" "90" "19" "18896582" "18896582" "subst" "0" "02327" "COMP_000006" "g.18896582G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785772G>C" "" "pathogenic" "" "0000566645" "0" "90" "19" "18896619" "18896619" "subst" "0" "02327" "COMP_000103" "g.18896619T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785809T>C" "" "pathogenic" "" "0000566646" "0" "30" "19" "18896645" "18896645" "subst" "0.000126971" "01804" "COMP_000145" "g.18896645G>A" "" "" "" "COMP(NM_000095.2):c.1506C>T (p.(Asp502=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785835G>A" "" "likely benign" "" "0000566647" "0" "30" "19" "18896821" "18896821" "subst" "0" "01804" "COMP_000146" "g.18896821C>T" "" "" "" "COMP(NM_000095.2):c.1443G>A (p.(Arg481=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18786011C>T" "" "likely benign" "" "0000566648" "0" "10" "19" "18897440" "18897440" "subst" "0.0329892" "01804" "COMP_000147" "g.18897440T>C" "" "" "" "COMP(NM_000095.2):c.1156A>G (p.(Asn386Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18786630T>C" "" "benign" "" "0000566650" "0" "50" "19" "18899045" "18899045" "subst" "0.00032631" "01804" "COMP_000149" "g.18899045G>T" "" "" "" "COMP(NM_000095.2):c.951C>A (p.(Asp317Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18788236G>T" "" "VUS" "" "0000566651" "0" "50" "19" "18899045" "18899045" "subst" "0.00032631" "02327" "COMP_000149" "g.18899045G>T" "" "" "" "COMP(NM_000095.2):c.951C>A (p.(Asp317Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18788236G>T" "" "VUS" "" "0000566652" "0" "30" "19" "18899238" "18899238" "subst" "1.27755E-5" "01943" "COMP_000150" "g.18899238G>C" "" "" "" "COMP(NM_000095.2):c.848C>G (p.P283R, p.(Pro283Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18788429G>C" "" "likely benign" "" "0000566653" "0" "30" "19" "18899386" "18899386" "subst" "0" "01804" "COMP_000151" "g.18899386C>T" "" "" "" "COMP(NM_000095.2):c.762+15G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18788577C>T" "" "likely benign" "" "0000566654" "0" "30" "19" "18899424" "18899424" "subst" "0" "01804" "COMP_000152" "g.18899424G>T" "" "" "" "COMP(NM_000095.2):c.739C>A (p.(Arg247Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18788615G>T" "" "likely benign" "" "0000566655" "0" "30" "19" "18899986" "18899986" "subst" "0.00454699" "01804" "COMP_000153" "g.18899986C>T" "" "" "" "COMP(NM_000095.2):c.511G>A (p.(Ala171Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18789177C>T" "" "likely benign" "" "0000566656" "0" "30" "19" "18900029" "18900029" "subst" "0.000452861" "01804" "COMP_000154" "g.18900029C>A" "" "" "" "COMP(NM_000095.2):c.468G>T (p.P156=, p.(Pro156=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18789220C>A" "" "likely benign" "" "0000566657" "0" "30" "19" "18900929" "18900929" "subst" "0.000640238" "01804" "COMP_000155" "g.18900929G>C" "" "" "" "COMP(NM_000095.2):c.218-6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18790120G>C" "" "likely benign" "" "0000566658" "0" "30" "19" "18900930" "18900930" "subst" "0.000539829" "01804" "COMP_000156" "g.18900930G>C" "" "" "" "COMP(NM_000095.2):c.218-7C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18790121G>C" "" "likely benign" "" "0000566659" "0" "30" "19" "18900937" "18900937" "subst" "0.0128995" "01804" "COMP_000157" "g.18900937G>A" "" "" "" "COMP(NM_000095.2):c.218-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18790128G>A" "" "likely benign" "" "0000566660" "0" "30" "19" "18900938" "18900938" "subst" "0.000576642" "01804" "COMP_000158" "g.18900938G>T" "" "" "" "COMP(NM_000095.2):c.218-15C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18790129G>T" "" "likely benign" "" "0000617469" "0" "30" "19" "18893856" "18893856" "subst" "0" "01804" "COMP_000160" "g.18893856C>G" "" "" "" "COMP(NM_000095.2):c.2227+8G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18783046C>G" "" "likely benign" "" "0000617470" "0" "70" "19" "18893878" "18893878" "subst" "0.000155436" "01804" "COMP_000161" "g.18893878C>T" "" "" "" "COMP(NM_000095.2):c.2213G>A (p.(Arg738His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18783068C>T" "" "likely pathogenic" "" "0000617471" "0" "50" "19" "18896592" "18896592" "subst" "0" "02327" "COMP_000162" "g.18896592C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785782C>T" "" "VUS" "" "0000617472" "0" "30" "19" "18900781" "18900781" "subst" "0.000352478" "01804" "COMP_000163" "g.18900781G>A" "" "" "" "COMP(NM_000095.2):c.360C>T (p.(Gly120=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18789972G>A" "" "likely benign" "" "0000649924" "1" "30" "19" "18897440" "18897440" "subst" "0.0329892" "03575" "COMP_000147" "g.18897440T>C" "170/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "170 heterozygous; {DB:CLININrs61739916}" "Germline" "" "rs61739916" "0" "" "" "g.18786630T>C" "" "likely benign" "" "0000658530" "0" "50" "19" "18895830" "18895830" "subst" "0" "02327" "COMP_000164" "g.18895830G>T" "" "" "" "COMP(NM_000095.2):c.1790C>A (p.(Ala597Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.18785020G>T" "" "VUS" "" "0000669467" "3" "30" "19" "18897440" "18897440" "subst" "0.0329892" "03575" "COMP_000147" "g.18897440T>C" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs61739916}" "Germline" "" "rs61739916" "0" "" "" "g.18786630T>C" "" "likely benign" "" "0000692726" "0" "70" "19" "18896847" "18896847" "subst" "0" "01943" "COMP_000025" "g.18896847C>T" "" "" "" "COMP(NM_000095.2):c.1417G>A (p.D473N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727215" "0" "50" "19" "18898461" "18898461" "del" "0" "02329" "COMP_000148" "g.18898461del" "" "" "" "COMP(NM_000095.2):c.976-2delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727216" "0" "50" "19" "18899463" "18899463" "subst" "0.000252211" "01943" "COMP_000166" "g.18899463G>A" "" "" "" "COMP(NM_000095.2):c.700C>T (p.P234S, p.(Pro234Ser)), COMP(NM_000095.3):c.700C>T (p.P234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727217" "0" "50" "19" "18899463" "18899463" "subst" "0.000252211" "01804" "COMP_000166" "g.18899463G>A" "" "" "" "COMP(NM_000095.2):c.700C>T (p.P234S, p.(Pro234Ser)), COMP(NM_000095.3):c.700C>T (p.P234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729884" "0" "90" "19" "18896871" "18896871" "subst" "0" "00000" "COMP_000082" "g.18896871C>G" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_000095.2:c.1393G>C:p.(Gly465Arg)" "" "De novo" "" "" "0" "" "" "g.18786061C>G" "" "pathogenic (dominant)" "" "0000760703" "0" "90" "19" "18893936" "18893936" "subst" "0" "03149" "COMP_000095" "g.18893936C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.18783126C>T" "" "pathogenic (dominant)" "" "0000760704" "1" "70" "19" "18896922" "18896922" "subst" "0" "03149" "COMP_000167" "g.18896922A>C" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000760711" "0" "90" "19" "18899047" "18899047" "subst" "0" "03149" "COMP_000168" "g.18899047C>T" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PM2, PM5, PM1, PP2, PP3, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.18788238C>T" "" "pathogenic (dominant)" "ACMG" "0000760810" "0" "70" "19" "18896858" "18896860" "del" "0" "01396" "COMP_000004" "g.18896858_18896860del" "" "" "" "" "" "Unknown" "" "" "" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000795661" "0" "70" "19" "18893935" "18893935" "subst" "0" "00000" "COMP_000038" "g.18893935C>T" "" "{PMID:Nair 2018:30293248}" "" "NM_000095.2:c.2156G>A+p; p.Gly719Asp" "" "Unknown" "?" "rs137852655" "0" "" "" "g.18783125C>T" "" "likely pathogenic" "" "0000808773" "0" "90" "19" "18895866" "18895866" "subst" "0" "01804" "COMP_000019" "g.18895866G>A" "" "" "" "COMP(NM_000095.2):c.1754C>T (p.(Thr585Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808774" "0" "90" "19" "18897368" "18897368" "subst" "0" "02327" "COMP_000169" "g.18897368A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808775" "0" "50" "19" "18899265" "18899265" "subst" "0" "01804" "COMP_000170" "g.18899265C>A" "" "" "" "COMP(NM_000095.2):c.821G>T (p.(Gly274Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808776" "0" "30" "19" "18900029" "18900029" "subst" "0.000452861" "01943" "COMP_000154" "g.18900029C>A" "" "" "" "COMP(NM_000095.2):c.468G>T (p.P156=, p.(Pro156=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808777" "0" "30" "19" "18900804" "18900804" "subst" "0" "01804" "COMP_000171" "g.18900804G>A" "" "" "" "COMP(NM_000095.2):c.337C>T (p.(Pro113Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831109" "0" "70" "19" "18896566" "18896566" "subst" "0" "00006" "COMP_000172" "g.18896566T>C" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.18785756T>C" "" "likely pathogenic" "" "0000831110" "0" "70" "19" "18896625" "18896625" "subst" "0" "00006" "COMP_000173" "g.18896625T>A" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.18785815T>A" "" "likely pathogenic" "" "0000831111" "0" "70" "19" "18896841" "18896841" "subst" "0" "00006" "COMP_000174" "g.18896841C>G" "" "{PMID:Zhang 2015:26377240}" "" "c.G1423C" "" "De novo" "" "" "0" "" "" "g.18786031C>G" "" "likely pathogenic" "" "0000831112" "0" "90" "19" "18896625" "18896625" "subst" "0" "00006" "COMP_000029" "g.18896625T>C" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.18785815T>C" "" "pathogenic" "" "0000831113" "0" "90" "19" "18896625" "18896625" "subst" "0" "00006" "COMP_000029" "g.18896625T>C" "" "{PMID:Zhang 2015:26377240}" "" "" "" "De novo" "" "" "0" "" "" "g.18785815T>C" "" "pathogenic" "" "0000831114" "0" "90" "19" "18896847" "18896847" "subst" "0" "00006" "COMP_000119" "g.18896847C>G" "" "{PMID:Zhang 2015:26377240}" "" "c.G1417C" "" "De novo" "" "" "0" "" "" "g.18786037C>G" "" "pathogenic" "" "0000831115" "0" "90" "19" "18896858" "18896860" "del" "0" "00006" "COMP_000004" "g.18896858_18896860del" "" "{PMID:Zhang 2015:26377240}" "" "c.1417_1419del3" "" "De novo" "" "" "0" "" "" "g.18786048_18786050del" "" "pathogenic" "" "0000855492" "0" "30" "19" "18896361" "18896361" "subst" "0" "02325" "COMP_000179" "g.18896361T>G" "" "" "" "COMP(NM_000095.3):c.1669-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865965" "0" "30" "19" "18893790" "18893790" "subst" "0.000809776" "01804" "COMP_000175" "g.18893790C>T" "" "" "" "COMP(NM_000095.2):c.2228-19G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865966" "0" "70" "19" "18893905" "18893905" "subst" "0" "01804" "COMP_000176" "g.18893905T>A" "" "" "" "COMP(NM_000095.2):c.2186A>T (p.(Gln729Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865967" "0" "30" "19" "18893939" "18893939" "subst" "0.00086787" "01804" "COMP_000177" "g.18893939G>T" "" "" "" "COMP(NM_000095.2):c.2152C>A (p.(Arg718=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865968" "0" "70" "19" "18895830" "18895830" "subst" "0" "01804" "COMP_000164" "g.18895830G>T" "" "" "" "COMP(NM_000095.2):c.1790C>A (p.(Ala597Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865969" "0" "50" "19" "18895853" "18895853" "subst" "0" "01804" "COMP_000178" "g.18895853G>T" "" "" "" "COMP(NM_000095.2):c.1767C>A (p.(Asn589Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865970" "0" "30" "19" "18896470" "18896470" "subst" "0.00256882" "01804" "COMP_000180" "g.18896470A>T" "" "" "" "COMP(NM_000095.2):c.1668+13T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865971" "0" "30" "19" "18896673" "18896673" "del" "0" "01804" "COMP_000181" "g.18896673del" "" "" "" "COMP(NM_000095.2):c.1490-10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865972" "0" "30" "19" "18896762" "18896762" "subst" "5.24593E-6" "01804" "COMP_000182" "g.18896762G>C" "" "" "" "COMP(NM_000095.2):c.1489+13C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865973" "0" "30" "19" "18896974" "18896974" "subst" "0" "01804" "COMP_000183" "g.18896974G>C" "" "" "" "COMP(NM_000095.2):c.1308-18C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865974" "0" "50" "19" "18897062" "18897062" "subst" "0" "01804" "COMP_000184" "g.18897062T>A" "" "" "" "COMP(NM_000095.2):c.1294A>T (p.(Ser432Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865975" "0" "30" "19" "18899005" "18899005" "subst" "0" "01804" "COMP_000185" "g.18899005C>T" "" "" "" "COMP(NM_000095.2):c.975+16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865976" "0" "90" "19" "18899085" "18899088" "dup" "0" "01804" "COMP_000186" "g.18899085_18899088dup" "" "" "" "COMP(NM_000095.2):c.911_912insTGGA (p.(Arg305GlyfsTer21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865977" "0" "30" "19" "18899132" "18899132" "subst" "0.000135834" "01804" "COMP_000187" "g.18899132G>A" "" "" "" "COMP(NM_000095.2):c.868-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865978" "0" "30" "19" "18899202" "18899202" "subst" "3.6973E-5" "01804" "COMP_000188" "g.18899202G>C" "" "" "" "COMP(NM_000095.2):c.867+17C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865979" "0" "30" "19" "18899202" "18899204" "del" "0" "01804" "COMP_000189" "g.18899202_18899204del" "" "" "" "COMP(NM_000095.2):c.867+15_867+17del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865980" "0" "50" "19" "18899204" "18899204" "subst" "0" "01804" "COMP_000190" "g.18899204T>A" "" "" "" "COMP(NM_000095.2):c.867+15A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865981" "0" "10" "19" "18899204" "18899204" "subst" "0" "01804" "COMP_000191" "g.18899204T>C" "" "" "" "COMP(NM_000095.2):c.867+15A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865982" "0" "30" "19" "18899207" "18899207" "subst" "0" "01804" "COMP_000192" "g.18899207G>C" "" "" "" "COMP(NM_000095.2):c.867+12C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865983" "0" "30" "19" "18899213" "18899213" "subst" "0" "01804" "COMP_000193" "g.18899213A>C" "" "" "" "COMP(NM_000095.2):c.867+6T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865984" "0" "10" "19" "18899217" "18899217" "subst" "0" "01804" "COMP_000194" "g.18899217A>C" "" "" "" "COMP(NM_000095.2):c.867+2T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865985" "0" "90" "19" "18899259" "18899259" "subst" "4.2264E-6" "01804" "COMP_000053" "g.18899259G>C" "" "" "" "COMP(NM_000095.2):c.827C>G (p.(Pro276Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865986" "0" "50" "19" "18899329" "18899329" "subst" "2.45814E-5" "01804" "COMP_000195" "g.18899329G>C" "" "" "" "COMP(NM_000095.2):c.763-6C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865987" "0" "30" "19" "18899389" "18899389" "subst" "0.000978685" "01804" "COMP_000196" "g.18899389G>T" "" "" "" "COMP(NM_000095.2):c.762+12C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865988" "0" "30" "19" "18899393" "18899393" "subst" "2.03824E-5" "01804" "COMP_000197" "g.18899393G>T" "" "" "" "COMP(NM_000095.2):c.762+8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865989" "0" "30" "19" "18899413" "18899413" "subst" "0" "01804" "COMP_000198" "g.18899413C>T" "" "" "" "COMP(NM_000095.2):c.750G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865990" "0" "50" "19" "18899477" "18899477" "subst" "0.000364269" "01804" "COMP_000199" "g.18899477C>T" "" "" "" "COMP(NM_000095.2):c.686G>A (p.(Cys229Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865991" "0" "50" "19" "18899970" "18899970" "subst" "0" "01804" "COMP_000200" "g.18899970T>C" "" "" "" "COMP(NM_000095.2):c.527A>G (p.(Gln176Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865992" "0" "30" "19" "18900012" "18900012" "subst" "0" "01804" "COMP_000201" "g.18900012G>A" "" "" "" "COMP(NM_000095.2):c.485C>T (p.(Thr162Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865994" "0" "50" "19" "18900861" "18900861" "subst" "0" "01804" "COMP_000203" "g.18900861C>T" "" "" "" "COMP(NM_000095.2):c.280G>A (p.(Gly94Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865995" "0" "30" "19" "18900862" "18900862" "subst" "0.00270835" "01804" "COMP_000204" "g.18900862G>T" "" "" "" "COMP(NM_000095.2):c.279C>A (p.(Pro93=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865996" "0" "90" "19" "18900902" "18900902" "del" "0" "01804" "COMP_000205" "g.18900902del" "" "" "" "COMP(NM_000095.2):c.240del (p.(Gly81Alafs*165))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000865997" "0" "30" "19" "18900935" "18900935" "subst" "0" "01804" "COMP_000206" "g.18900935A>T" "" "" "" "COMP(NM_000095.2):c.218-12T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865998" "0" "30" "19" "18901360" "18901360" "subst" "0" "01804" "COMP_000207" "g.18901360G>T" "" "" "" "COMP(NM_000095.2):c.217+11C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865999" "0" "30" "19" "18901393" "18901393" "subst" "0.000726974" "01804" "COMP_000208" "g.18901393C>T" "" "" "" "COMP(NM_000095.2):c.195G>A (p.(Thr65=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866000" "0" "30" "19" "18901692" "18901692" "subst" "7.13733E-5" "01804" "COMP_000209" "g.18901692C>T" "" "" "" "COMP(NM_000095.2):c.132G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866001" "0" "30" "19" "18902043" "18902043" "subst" "2.80358E-5" "01804" "COMP_000210" "g.18902043G>A" "" "" "" "COMP(NM_000095.2):c.36C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877065" "0" "90" "19" "18896632" "18896632" "subst" "0" "01411" "COMP_000211" "g.18896632C>A" "" "{PMID:Hasegawa 2023:37842142}" "" "" "ACMG PM1, PM2, PM5, PM6, PP2, PP3, PP4" "De novo" "" "" "0" "" "" "g.18785822C>A" "" "likely pathogenic (dominant)" "ACMG" "0000877073" "0" "90" "19" "18896598" "18896598" "subst" "0" "01411" "COMP_000212" "g.18896598T>A" "" "{PMID:Hasegawa 2023:37842142}" "" "" "ACMG PM1, PM2, PM5, PM6, PP2, PP3, PP4" "De novo" "" "" "0" "" "" "g.18785788T>A" "" "likely pathogenic (dominant)" "ACMG" "0000877074" "0" "90" "19" "18898383" "18898383" "subst" "0" "01411" "COMP_000057" "g.18898383C>T" "" "{PMID:Hasegawa 2023:37842142}" "" "" "ACMG PS1, PM2, PM6, PP3, PP4" "De novo" "" "" "0" "" "" "g.18787574C>T" "" "pathogenic (dominant)" "ACMG" "0000877075" "0" "90" "19" "18896927" "18896927" "subst" "0" "01411" "COMP_000213" "g.18896927T>C" "" "{PMID:Hasegawa 2023:37842142}" "" "" "ACMG PM1, PM2, PM5, PM6, PP2, PP3, PP4" "De novo" "" "" "0" "" "" "g.18786117T>C" "" "likely pathogenic (dominant)" "ACMG" "0000877076" "0" "90" "19" "18896955" "18896955" "subst" "0" "01411" "COMP_000214" "g.18896955C>A" "" "{PMID:Hasegawa 2023:37842142}" "" "" "ACMG PM1, PM2, PM5, PM6, PP2, PP3, PP4" "De novo" "" "" "0" "" "" "g.18786145C>A" "" "likely pathogenic (dominant)" "ACMG" "0000894876" "0" "50" "19" "18895029" "18895029" "del" "0" "01804" "COMP_000215" "g.18895029del" "" "" "" "COMP(NM_000095.2):c.2059del (p.(Gln687Serfs*?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894877" "0" "30" "19" "18897106" "18897106" "subst" "0.000333412" "01804" "COMP_000216" "g.18897106G>A" "" "" "" "COMP(NM_000095.2):c.1255-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894878" "0" "50" "19" "18898403" "18898403" "subst" "1.21849E-5" "01804" "COMP_000217" "g.18898403C>T" "" "" "" "COMP(NM_000095.2):c.1032G>A (p.(Trp344Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894879" "0" "30" "19" "18899200" "18899200" "subst" "0" "01804" "COMP_000218" "g.18899200C>G" "" "" "" "COMP(NM_000095.2):c.867+19G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894880" "0" "30" "19" "18899202" "18899202" "subst" "0.000203352" "01804" "COMP_000219" "g.18899202G>T" "" "" "" "COMP(NM_000095.2):c.867+17C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894881" "0" "50" "19" "18899203" "18899204" "ins" "0" "01804" "COMP_000220" "g.18899203_18899204insA" "" "" "" "COMP(NM_000095.2):c.867+15_867+16insT (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894882" "0" "30" "19" "18900056" "18900056" "subst" "0.000102514" "01804" "COMP_000221" "g.18900056C>G" "" "" "" "COMP(NM_000095.2):c.441G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894883" "0" "30" "19" "18900759" "18900759" "subst" "0.000147723" "01804" "COMP_000222" "g.18900759C>T" "" "" "" "COMP(NM_000095.2):c.382G>A (p.(Val128Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894884" "0" "30" "19" "18900844" "18900844" "subst" "0" "01804" "COMP_000223" "g.18900844G>T" "" "" "" "COMP(NM_000095.2):c.297C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894885" "0" "30" "19" "18900927" "18900927" "subst" "0" "01804" "COMP_000224" "g.18900927C>G" "" "" "" "COMP(NM_000095.2):c.218-4G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915169" "0" "50" "19" "18893864" "18893864" "subst" "0" "01804" "COMP_000225" "g.18893864C>T" "" "" "" "COMP(NM_000095.2):c.2227G>A (p.(Asp743Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915170" "0" "30" "19" "18895126" "18895126" "subst" "1.21837E-5" "01804" "COMP_000226" "g.18895126C>T" "" "" "" "COMP(NM_000095.2):c.1962G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915171" "0" "30" "19" "18896345" "18896345" "subst" "0" "01804" "COMP_000227" "g.18896345G>A" "" "" "" "COMP(NM_000095.2):c.1680C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915172" "0" "30" "19" "18896348" "18896348" "subst" "0.000101553" "01804" "COMP_000228" "g.18896348C>T" "" "" "" "COMP(NM_000095.2):c.1677G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915173" "0" "30" "19" "18896794" "18896794" "subst" "1.65016E-5" "01804" "COMP_000229" "g.18896794G>C" "" "" "" "COMP(NM_000095.2):c.1470C>G (p.(Pro490=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915174" "0" "70" "19" "18898315" "18898315" "subst" "0" "02327" "COMP_000099" "g.18898315C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915175" "0" "50" "19" "18899463" "18899463" "subst" "0.000252211" "02325" "COMP_000166" "g.18899463G>A" "" "" "" "COMP(NM_000095.2):c.700C>T (p.P234S, p.(Pro234Ser)), COMP(NM_000095.3):c.700C>T (p.P234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915176" "0" "30" "19" "18899484" "18899484" "subst" "0" "01804" "COMP_000230" "g.18899484G>T" "" "" "" "COMP(NM_000095.2):c.679C>A (p.(Arg227Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915177" "0" "50" "19" "18899520" "18899520" "subst" "5.15965E-5" "01804" "COMP_000231" "g.18899520C>G" "" "" "" "COMP(NM_000095.2):c.643G>C (p.(Gly215Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915178" "0" "30" "19" "18900886" "18900886" "subst" "6.59582E-5" "01804" "COMP_000232" "g.18900886C>T" "" "" "" "COMP(NM_000095.2):c.255G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926848" "0" "30" "19" "18899144" "18899144" "subst" "2.06769E-5" "01804" "COMP_000233" "g.18899144G>A" "" "" "" "COMP(NM_000095.2):c.868-16C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926849" "0" "30" "19" "18900763" "18900763" "subst" "0" "01804" "COMP_000234" "g.18900763G>A" "" "" "" "COMP(NM_000095.2):c.378C>T (p.(Thr126=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926850" "0" "30" "19" "18900928" "18900928" "subst" "0.000171963" "01804" "COMP_000235" "g.18900928G>C" "" "" "" "COMP(NM_000095.2):c.218-5C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931025" "0" "30" "19" "18893847" "18893847" "subst" "0" "01804" "COMP_000236" "g.18893847G>A" "" "" "" "COMP(NM_000095.2):c.2227+17C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931027" "0" "30" "19" "18896588" "18896588" "subst" "8.14332E-6" "01804" "COMP_000237" "g.18896588C>T" "" "" "" "COMP(NM_000095.2):c.1563G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931028" "0" "30" "19" "18896767" "18896767" "subst" "1.88214E-5" "01804" "COMP_000238" "g.18896767C>T" "" "" "" "COMP(NM_000095.2):c.1489+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931029" "0" "30" "19" "18896776" "18896776" "subst" "0.000180491" "01804" "COMP_000239" "g.18896776G>T" "" "" "" "COMP(NM_000095.2):c.1488C>A (p.(Asp496Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931030" "0" "50" "19" "18899028" "18899028" "subst" "4.4924E-5" "02325" "COMP_000240" "g.18899028T>C" "" "" "" "COMP(NM_000095.3):c.968A>G (p.N323S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931031" "0" "30" "19" "18899238" "18899238" "subst" "1.27755E-5" "01804" "COMP_000150" "g.18899238G>C" "" "" "" "COMP(NM_000095.2):c.848C>G (p.P283R, p.(Pro283Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931032" "0" "30" "19" "18902068" "18902068" "subst" "3.83039E-5" "01804" "COMP_000241" "g.18902068T>G" "" "" "" "COMP(NM_000095.2):c.11A>C (p.(Asp4Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000933021" "0" "90" "19" "18896797" "18896797" "subst" "0" "03779" "COMP_000242" "g.18896797G>T" "" "" "" "" "" "Unknown" "" "rs772268073" "0" "" "" "" "" "pathogenic" "" "0000951258" "0" "10" "19" "18895865" "18895865" "subst" "0.0498721" "01804" "COMP_000243" "g.18895865C>T" "" "" "" "COMP(NM_000095.2):c.1755G>A (p.(Thr585=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000951259" "0" "50" "19" "18899718" "18899718" "subst" "0" "02329" "COMP_000244" "g.18899718C>A" "" "" "" "COMP(NM_000095.2):c.533G>T (p.(Cys178Phe)), COMP(NM_000095.3):c.533G>T (p.C178F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969640" "0" "30" "19" "18893736" "18893736" "subst" "8.57255E-5" "01804" "COMP_000245" "g.18893736G>A" "" "" "" "COMP(NM_000095.2):c.2263C>T (p.(Arg755Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969641" "0" "30" "19" "18895856" "18895856" "subst" "0" "01804" "COMP_000246" "g.18895856C>A" "" "" "" "COMP(NM_000095.2):c.1764G>T (p.(Val588=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983323" "0" "30" "19" "18896364" "18896364" "subst" "0" "01804" "COMP_000247" "g.18896364G>T" "" "" "" "COMP(NM_000095.2):c.1669-8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983324" "0" "50" "19" "18896933" "18896933" "subst" "1.62557E-5" "01804" "COMP_000248" "g.18896933G>C" "" "" "" "COMP(NM_000095.2):c.1331C>G (p.(Ser444Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983325" "0" "50" "19" "18898371" "18898371" "subst" "0" "01804" "COMP_000249" "g.18898371T>C" "" "" "" "COMP(NM_000095.3):c.1064A>G (p.(Lys355Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983326" "0" "50" "19" "18899039" "18899039" "subst" "0" "01804" "COMP_000250" "g.18899039G>T" "" "" "" "COMP(NM_000095.3):c.957C>A (p.(Asp319Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983327" "0" "50" "19" "18899110" "18899110" "subst" "1.22765E-5" "01804" "COMP_000251" "g.18899110G>C" "" "" "" "COMP(NM_000095.3):c.886C>G (p.(Pro296Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985241" "21" "70" "19" "18895791" "18895791" "subst" "0" "04689" "COMP_000252" "g.18895791T>C" "" "" "" "g.18895791A>G" "" "Germline" "" "" "0" "" "" "g.18784981T>C" "" "pathogenic" "" "0001004537" "0" "50" "19" "18895073" "18895073" "subst" "1.62444E-5" "01804" "COMP_000253" "g.18895073C>T" "" "" "" "COMP(NM_000095.2):c.2015G>A (p.(Arg672Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004538" "0" "50" "19" "18896530" "18896530" "subst" "0" "01804" "COMP_000254" "g.18896530G>A" "" "" "" "COMP(NM_000095.2):c.1621C>T (p.(Pro541Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004539" "0" "50" "19" "18897410" "18897412" "del" "0" "01804" "COMP_000255" "g.18897410_18897412del" "" "" "" "COMP(NM_000095.2):c.1186_1188del (p.(Lys396del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004540" "0" "50" "19" "18899060" "18899060" "subst" "2.85374E-5" "01804" "COMP_000256" "g.18899060G>T" "" "" "" "COMP(NM_000095.2):c.936C>A (p.(Cys312*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004541" "0" "50" "19" "18899076" "18899076" "subst" "1.63088E-5" "01804" "COMP_000257" "g.18899076C>T" "" "" "" "COMP(NM_000095.2):c.920G>A (p.(Gly307Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004542" "0" "30" "19" "18899139" "18899139" "subst" "0" "01804" "COMP_000258" "g.18899139G>A" "" "" "" "COMP(NM_000095.2):c.868-11C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004543" "0" "30" "19" "18899140" "18899140" "subst" "0" "01804" "COMP_000259" "g.18899140C>A" "" "" "" "COMP(NM_000095.2):c.868-12G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004544" "0" "30" "19" "18899208" "18899208" "subst" "2.17766E-5" "01804" "COMP_000260" "g.18899208C>T" "" "" "" "COMP(NM_000095.2):c.867+11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004545" "0" "50" "19" "18899493" "18899494" "del" "0" "01804" "COMP_000261" "g.18899493_18899494del" "" "" "" "COMP(NM_000095.2):c.673_674delGC (p.(Ala225fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004546" "0" "50" "19" "18899718" "18899718" "subst" "0" "01804" "COMP_000244" "g.18899718C>A" "" "" "" "COMP(NM_000095.2):c.533G>T (p.(Cys178Phe)), COMP(NM_000095.3):c.533G>T (p.C178F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004547" "0" "30" "19" "18900001" "18900001" "subst" "0" "01804" "COMP_000262" "g.18900001C>A" "" "" "" "COMP(NM_000095.2):c.496G>T (p.(Val166Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004548" "0" "50" "19" "18900792" "18900792" "subst" "0" "01804" "COMP_000263" "g.18900792C>T" "" "" "" "COMP(NM_000095.2):c.349G>A (p.(Gly117Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004549" "0" "30" "19" "18900885" "18900885" "subst" "0" "01804" "COMP_000264" "g.18900885G>A" "" "" "" "COMP(NM_000095.2):c.256C>T (p.(Arg86Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004550" "0" "50" "19" "18901387" "18901387" "subst" "0" "01804" "COMP_000265" "g.18901387C>A" "" "" "" "COMP(NM_000095.2):c.201G>T (p.(Met67Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015768" "0" "50" "19" "18895118" "18895118" "subst" "0" "02325" "COMP_000266" "g.18895118G>C" "" "" "" "COMP(NM_000095.3):c.1970C>G (p.T657R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015769" "0" "30" "19" "18896600" "18896600" "subst" "4.07256E-6" "01804" "COMP_000267" "g.18896600G>A" "" "" "" "COMP(NM_000095.2):c.1551C>T (p.(Ile517=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015770" "0" "30" "19" "18898400" "18898400" "subst" "0" "02325" "COMP_000268" "g.18898400G>T" "" "" "" "COMP(NM_000095.2):c.1035C>A (p.(Gly345=)), COMP(NM_000095.3):c.1035C>A (p.G345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015771" "0" "50" "19" "18899705" "18899705" "subst" "4.07601E-6" "01804" "COMP_000269" "g.18899705G>C" "" "" "" "COMP(NM_000095.2):c.546C>G (p.(Asn182Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015772" "0" "30" "19" "18900937" "18900937" "subst" "5.11884E-5" "01804" "COMP_000270" "g.18900937G>C" "" "" "" "COMP(NM_000095.2):c.218-14C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027197" "0" "30" "19" "18895790" "18895790" "subst" "0.000113697" "01804" "COMP_000271" "g.18895790G>A" "" "" "" "COMP(NM_000095.2):c.1830C>T (p.(Tyr610=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027198" "0" "30" "19" "18896679" "18896679" "subst" "8.31476E-6" "01804" "COMP_000272" "g.18896679C>T" "" "" "" "COMP(NM_000095.2):c.1490-18G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027199" "0" "50" "19" "18898441" "18898441" "subst" "8.1275E-6" "01804" "COMP_000273" "g.18898441G>A" "" "" "" "COMP(NM_000095.2):c.994C>T (p.(Arg332Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027200" "0" "50" "19" "18900027" "18900027" "subst" "0" "02325" "COMP_000274" "g.18900027C>A" "" "" "" "COMP(NM_000095.3):c.470G>T (p.G157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027201" "0" "50" "19" "18900839" "18900841" "dup" "0" "01804" "COMP_000275" "g.18900839_18900841dup" "" "" "" "COMP(NM_000095.2):c.300_302dup (p.(Ala101dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027202" "0" "50" "19" "18902057" "18902057" "subst" "0" "02329" "COMP_000276" "g.18902057C>T" "" "" "" "COMP(NM_000095.3):c.22G>A (p.V8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042800" "0" "50" "19" "18895879" "18895879" "subst" "0" "01804" "COMP_000277" "g.18895879C>G" "" "" "" "COMP(NM_000095.3):c.1741G>C (p.(Asp581His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042801" "0" "70" "19" "18898359" "18898359" "dup" "0" "01804" "COMP_000278" "g.18898359dup" "" "" "" "COMP(NM_000095.2):c.1079dup (p.(Asp361GlyfsTer29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042802" "0" "30" "19" "18899072" "18899072" "subst" "0.000130444" "01804" "COMP_000279" "g.18899072G>A" "" "" "" "COMP(NM_000095.2):c.924C>T (p.(Ile308=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042803" "0" "50" "19" "18899236" "18899236" "subst" "1.27841E-5" "01804" "COMP_000280" "g.18899236C>T" "" "" "" "COMP(NM_000095.2):c.850G>A (p.(Glu284Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042804" "0" "30" "19" "18899331" "18899331" "subst" "0.000135085" "01804" "COMP_000281" "g.18899331A>G" "" "" "" "COMP(NM_000095.2):c.763-8T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046727" "0" "50" "19" "18898400" "18898400" "subst" "0" "01804" "COMP_000268" "g.18898400G>T" "" "" "" "COMP(NM_000095.2):c.1035C>A (p.(Gly345=)), COMP(NM_000095.3):c.1035C>A (p.G345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056583" "0" "50" "19" "18895074" "18895074" "subst" "4.06108E-5" "02327" "COMP_000282" "g.18895074G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059605" "11" "70" "19" "18898452" "18898452" "subst" "0" "00006" "COMP_000284" "g.18898452C>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline" "" "" "0" "" "" "g.18787643C>A" "SCV002054004.1" "likely pathogenic (dominant)" "" "0001059606" "0" "70" "19" "18899046" "18899046" "subst" "0" "00006" "COMP_000125" "g.18899046T>C" "" "{PMID:Jacob 2025:39706863}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.18788237T>C" "SUB14119515" "likely pathogenic" "" "0001059607" "11" "70" "19" "18899128" "18899128" "subst" "0" "00006" "COMP_000283" "g.18899128C>A" "" "{PMID:Jacob 2025:39706863}" "" "" "gonadal mosaicism in father" "Germline" "" "" "0" "" "" "g.18788319C>A" "SCV002507111.1" "likely pathogenic (dominant)" "" "0001059608" "0" "70" "19" "18896870" "18896870" "subst" "0" "00006" "COMP_000108" "g.18896870C>A" "" "{PMID:Jacob 2025:39706863}" "" "" "" "De novo" "" "" "0" "" "" "g.18786060C>A" "SCV002507154.1" "likely pathogenic (dominant)" "" ## 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 COMP ## Count = 372 "{{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}}" "0000132249" "00005519" "50" "575" "0" "575" "0" "c.575T>C" "r.(575u>c)" "p.(Val192Ala)" "6" "0000339056" "00005519" "90" "1201" "0" "1201" "0" "c.1201G>T" "r.(?)" "p.(Asp401Tyr)" "" "0000501877" "00005519" "95" "868" "0" "868" "0" "c.868G>A" "r.(spl?)" "p.(Asp290Asn)" "9" "0000501878" "00005519" "95" "1024" "0" "1024" "0" "c.1024G>T" "r.(?)" "p.(Asp342Tyr)" "10" "0000501879" "00005519" "95" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Asp374Asn)" "10" "0000501880" "00005519" "95" "1245" "0" "1245" "0" "c.1245C>G" "r.(?)" "p.(Asn415Lys)" "11" "0000501881" "00005519" "95" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Ser298Leu)" "9" "0000501882" "00005519" "95" "932" "0" "932" "0" "c.932C>A" "r.(?)" "p.(Ala311Asp)" "9" "0000501883" "00005519" "95" "976" "0" "976" "0" "c.976G>T" "r.(?)" "p.(Asp326Tyr)" "10" "0000501884" "00005519" "95" "977" "0" "977" "0" "c.977A>G" "r.(?)" "p.(Asp326Gly)" "10" "0000501885" "00005519" "95" "1021" "0" "1026" "0" "c.1021_1026del" "r.(?)" "p.(Glu341_Asp342del)" "10" "0000501886" "00005519" "95" "1021" "0" "1026" "0" "c.1021_1026del" "r.(?)" "p.(Glu341_Asp342del)" "10" "0000501887" "00005519" "95" "1048" "0" "1116" "0" "c.1048_1116del" "r.(?)" "p.(Asn350_Asp372del)" "10" "0000501888" "00005519" "95" "1133" "0" "1133" "0" "c.1133A>T" "r.(?)" "p.(Asp378Val)" "10" "0000501889" "00005519" "95" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Asp446Asn)" "13" "0000501890" "00005519" "95" "1544" "0" "1544" "0" "c.1544A>G" "r.(?)" "p.(Asp515Gly)" "14" "0000501891" "00005519" "95" "2153" "0" "2153" "0" "c.2153G>C" "r.(?)" "p.(Arg718Pro)" "18" "0000501892" "00005519" "95" "1371" "0" "1373" "0" "c.1371_1373del" "r.(?)" "p.(Glu457del)" "13" "0000501893" "00005519" "95" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Asp473Gly)" "13" "0000501894" "00005519" "95" "827" "0" "827" "0" "c.827C>G" "r.(?)" "p.(Pro276Arg)" "8" "0000501895" "00005519" "95" "982" "0" "982" "0" "c.982T>C" "r.(?)" "p.(Cys328Arg)" "10" "0000501896" "00005519" "95" "1043" "0" "1043" "0" "c.1043G>T" "r.(?)" "p.(Cys348Phe)" "10" "0000501897" "00005519" "95" "1112" "0" "1112" "0" "c.1112G>T" "r.(?)" "p.(Cys371Phe)" "10" "0000501898" "00005519" "95" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Asp385Asn)" "11" "0000501899" "00005519" "95" "1153" "0" "1153" "0" "c.1153G>T" "r.(?)" "p.(Asp385Tyr)" "11" "0000501900" "00005519" "95" "1414" "0" "1414" "0" "c.1414G>T" "r.(?)" "p.(Asp472Tyr)" "13" "0000501901" "00005519" "95" "1450" "0" "1450" "0" "c.1450T>G" "r.(?)" "p.(Cys484Gly)" "13" "0000501902" "00005519" "95" "1569" "0" "1569" "0" "c.1569C>G" "r.(?)" "p.(Asn523Lys)" "14" "0000501903" "00005519" "95" "1754" "0" "1754" "0" "c.1754C>G" "r.(?)" "p.(Thr585Arg)" "16" "0000501904" "00005519" "95" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Thr585Met)" "16" "0000501905" "00005519" "95" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Thr585Met)" "16" "0000501906" "00005519" "95" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Trp)" "18" "0000501907" "00005519" "95" "2223" "0" "2223" "0" "c.2223dup" "r.2223dup" "p.(Asn742Glnfs*2)" "18" "0000501908" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419dup" "r.(?)" "p.(Asp473dup)" "13" "0000501909" "00005519" "95" "917" "0" "976" "-61" "c.917_976-61del" "r.868_975del" "p.(=)" "9" "0000501910" "00005519" "95" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Cys351Tyr)" "10" "0000501911" "00005519" "95" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Asp385Asn)" "11" "0000501912" "00005519" "95" "1310" "0" "1310" "0" "c.1310A>G" "r.(?)" "p.(Asp437Gly)" "13" "0000501913" "00005519" "95" "1375" "0" "1377" "0" "c.1375_1377del" "r.(?)" "p.(Ser459del)" "13" "0000501914" "00005519" "95" "1403" "0" "1403" "0" "c.1403G>A" "r.(?)" "p.(Cys468Tyr)" "13" "0000501915" "00005519" "95" "1414" "0" "1419" "0" "c.1414_1419dup" "r.(?)" "p.(Asp472_Asp473dup)" "13" "0000501916" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000501917" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000501918" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000501919" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000501920" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000501921" "00005519" "95" "1501" "0" "1509" "0" "c.1501_1509del" "r.(?)" "p.(Gly501_Val503del)" "14" "0000501922" "00005519" "95" "1527" "0" "1527" "0" "c.1527T>G" "r.(?)" "p.(Asp509Glu)" "14" "0000501923" "00005519" "95" "811" "0" "811" "0" "c.811G>C" "r.(?)" "p.(Asp271His)" "8" "0000501924" "00005519" "95" "812" "0" "812" "0" "c.812A>T" "r.(?)" "p.(Asp271Val)" "8" "0000501925" "00005519" "95" "815" "0" "815" "0" "c.815T>C" "r.(?)" "p.(Leu272Pro)" "8" "0000501926" "00005519" "95" "827" "0" "827" "0" "c.827C>G" "r.(?)" "p.(Pro276Arg)" "8" "0000501927" "00005519" "95" "869" "0" "869" "0" "c.869A>G" "r.(?)" "p.(Asp290Gly)" "9" "0000501928" "00005519" "95" "876" "0" "876" "0" "c.876C>G" "r.(?)" "p.(Cys292Trp)" "9" "0000501929" "00005519" "95" "893" "0" "893" "0" "c.893C>T" "r.(?)" "p.(Ser298Leu)" "9" "0000501930" "00005519" "95" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Gly299Arg)" "9" "0000501931" "00005519" "95" "895" "0" "895" "0" "c.895G>C" "r.(?)" "p.(Gly299Arg)" "9" "0000501932" "00005519" "95" "905" "0" "905" "0" "c.905A>T" "r.(?)" "p.(Asp302Val)" "9" "0000501933" "00005519" "95" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Gly309Arg)" "9" "0000501934" "00005519" "95" "925" "0" "925" "0" "c.925G>C" "r.(?)" "p.(Gly309Arg)" "9" "0000501935" "00005519" "95" "929" "0" "929" "0" "c.929A>T" "r.(?)" "p.(Asp310Val)" "9" "0000501936" "00005519" "95" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Asp317Gly)" "9" "0000501937" "00005519" "95" "1042" "0" "1042" "0" "c.1042T>C" "r.(?)" "p.(Cys348Arg)" "10" "0000501938" "00005519" "95" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asp349Gly)" "10" "0000501939" "00005519" "95" "1081" "0" "1081" "0" "c.1081G>T" "r.(?)" "p.(Asp361Tyr)" "10" "0000501940" "00005519" "95" "1082" "0" "1082" "0" "c.1082A>T" "r.(?)" "p.(Asp361Val)" "10" "0000501941" "00005519" "95" "1096" "0" "1096" "0" "c.1096G>C" "r.(?)" "p.(Gly366Arg)" "10" "0000501942" "00005519" "95" "1099" "0" "1104" "0" "c.1099_1104del" "r.(?)" "p.(Arg367_Gly368del)" "10" "0000501943" "00005519" "95" "1102" "0" "1102" "0" "c.1102G>C" "r.(?)" "p.(Gly368Arg)" "10" "0000501944" "00005519" "95" "1111" "0" "1111" "0" "c.1111T>A" "r.(?)" "p.(Cys371Ser)" "10" "0000501945" "00005519" "95" "1111" "0" "1111" "0" "c.1111T>A" "r.(?)" "p.(Cys371Ser)" "10" "0000501946" "00005519" "95" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Cys371Tyr)" "10" "0000501947" "00005519" "95" "1112" "0" "1112" "0" "c.1112G>A" "r.(?)" "p.(Cys371Tyr)" "10" "0000501948" "00005519" "95" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Asp374Asn)" "10" "0000501949" "00005519" "95" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Asp376Asn)" "10" "0000501950" "00005519" "95" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Asp376Asn)" "10" "0000501951" "00005519" "95" "1127" "0" "1127" "0" "c.1127A>T" "r.(?)" "p.(Asp376Val)" "10" "0000501952" "00005519" "95" "1132" "0" "1132" "0" "c.1132G>T" "r.(?)" "p.(Asp378Tyr)" "10" "0000501953" "00005519" "95" "1120" "0" "1122" "0" "c.1120_1122del" "r.(?)" "p.(Asp374del)" "11" "0000501954" "00005519" "95" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Asp385Asn)" "11" "0000501955" "00005519" "95" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Asp385Asn)" "11" "0000501956" "00005519" "95" "1153" "0" "1155" "0" "c.1153_1155del" "r.(?)" "p.(Asp385del)" "11" "0000501957" "00005519" "95" "1153" "0" "1155" "0" "c.1153_1155del" "r.(?)" "p.(Asp385del)" "11" "0000501958" "00005519" "95" "1156" "0" "1158" "0" "c.1156_1158del" "r.(?)" "p.(Asn386del)" "11" "0000501959" "00005519" "95" "1159" "0" "1159" "0" "c.1159T>C" "r.(?)" "p.(Cys387Arg)" "11" "0000501960" "00005519" "95" "1159" "0" "1159" "0" "c.1159T>G" "r.(?)" "p.(Cys387Gly)" "11" "0000501961" "00005519" "95" "1170" "0" "1181" "0" "c.1170_1181delinsTGT" "r.(?)" "p.(Pro391_Asp394delinsVal)" "11" "0000501962" "00005519" "95" "1183" "0" "1191" "0" "c.1183_1191del" "r.(?)" "p.(Gln395_Asp397del)" "11" "0000501963" "00005519" "95" "1189" "0" "1189" "0" "c.1189G>C" "r.(?)" "p.(Asp397His)" "11" "0000501964" "00005519" "95" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Asp399Asn)" "11" "0000501965" "00005519" "95" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Asp401Asn)" "11" "0000501966" "00005519" "95" "1205" "0" "1212" "0" "c.1205_1212delinsTCTGT" "r.(?)" "p.(Gly402_Gly404delinsValCys)" "11" "0000501967" "00005519" "95" "1210" "0" "1210" "0" "c.1210G>A" "r.(?)" "p.(Gly404Arg)" "11" "0000501968" "00005519" "95" "1220" "0" "1220" "0" "c.1220G>T" "r.(?)" "p.(Cys407Phe)" "11" "0000501969" "00005519" "95" "1222" "0" "1222" "0" "c.1222G>T" "r.(?)" "p.(Asp408Tyr)" "11" "0000501970" "00005519" "95" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Cys410Tyr)" "11" "0000501971" "00005519" "95" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Cys410Tyr)" "11" "0000501972" "00005519" "95" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Cys410Tyr)" "11" "0000501973" "00005519" "95" "1245" "0" "1245" "0" "c.1245C>G" "r.(?)" "p.(Asn415Lys)" "11" "0000501974" "00005519" "95" "1245" "0" "1245" "0" "c.1245C>G" "r.(?)" "p.(Asn415Lys)" "11" "0000501975" "00005519" "95" "1259" "0" "1259" "0" "c.1259A>C" "r.(?)" "p.(Asp420Ala)" "12" "0000501976" "00005519" "95" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Glu)" "12" "0000501977" "00005519" "95" "1280" "0" "1280" "0" "c.1280G>A" "r.(?)" "p.(Gly427Glu)" "12" "0000501978" "00005519" "95" "1289" "0" "1294" "0" "c.1289_1294delinsTGTGGT" "r.(?)" "p.(Cys430_Ser432delinsLeuTrpCys)" "12" "0000501979" "00005519" "95" "0" "0" "0" "0" "c.?" "r.spl?" "p.?" "13i" "0000501980" "00005519" "95" "1310" "0" "1310" "0" "c.1310A>G" "r.(?)" "p.(Asp437Gly)" "13" "0000501981" "00005519" "95" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Asp439Asn)" "13" "0000501982" "00005519" "95" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Gly440Arg)" "13" "0000501983" "00005519" "95" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Gly440Arg)" "13" "0000501984" "00005519" "95" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Gly440Arg)" "13" "0000501985" "00005519" "95" "1319" "0" "1319" "0" "c.1319G>A" "r.(?)" "p.(Gly440Glu)" "13" "0000501986" "00005519" "95" "1336" "0" "1336" "0" "c.1336G>A" "r.(?)" "p.(Asp446Asn)" "13" "0000501987" "00005519" "95" "1343" "0" "1343" "0" "c.1343G>C" "r.(?)" "p.(Cys448Ser)" "13" "0000501988" "00005519" "95" "1345" "0" "1345" "0" "c.1345C>A" "r.(?)" "p.(Pro449Thr)" "13" "0000501989" "00005519" "95" "1345" "0" "1347" "0" "c.1345_1347del" "r.(?)" "p.(Pro449del)" "13" "0000501990" "00005519" "95" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "13" "0000501991" "00005519" "55" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "13" "0000501992" "00005519" "95" "1360" "0" "1360" "0" "c.1360A>C" "r.(?)" "p.(Ser454Arg)" "13" "0000501993" "00005519" "95" "1362" "0" "1362" "0" "c.1362T>G" "r.(?)" "p.(Ser454Arg)" "13" "0000501994" "00005519" "95" "1371" "0" "1373" "0" "c.1371_1373del" "r.(?)" "p.(Glu457del)" "13" "0000501995" "00005519" "95" "1371" "0" "1373" "0" "c.1371_1373del" "r.(?)" "p.(Glu457del)" "13" "0000501996" "00005519" "95" "1371" "0" "1373" "0" "c.1371_1373del" "r.(?)" "p.(Glu457del)" "13" "0000501997" "00005519" "95" "1393" "0" "1393" "0" "c.1393G>C" "r.(?)" "p.(Gly465Arg)" "13" "0000501998" "00005519" "95" "1393" "0" "1393" "0" "c.1393G>T" "r.(?)" "p.(Gly465Cys)" "13" "0000501999" "00005519" "95" "1394" "0" "1394" "0" "c.1394G>T" "r.(?)" "p.(Gly465Val)" "13" "0000502000" "00005519" "95" "1411" "0" "1419" "0" "c.1411_1419del" "r.(?)" "p.(Asp471_Asp473del)" "13" "0000502001" "00005519" "95" "1412" "0" "1412" "0" "c.1412A>C" "r.(?)" "p.(Asp471Ala)" "13" "0000502002" "00005519" "95" "1412" "0" "1412" "0" "c.1412A>G" "r.(?)" "p.(Asp471Gly)" "13" "0000502003" "00005519" "95" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Asp473Asn)" "13" "0000502004" "00005519" "95" "1417" "0" "1417" "0" "c.1417G>C" "r.(?)" "p.(Asp473His)" "13" "0000502005" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502006" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502007" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502008" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502009" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502010" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502011" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502012" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502013" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502014" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502015" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502016" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000502017" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419dup" "r.(?)" "p.(Asp473dup)" "13" "0000502018" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419dup" "r.(?)" "p.(Asp473dup)" "13" "0000502019" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419dup" "r.(?)" "p.(Asp473dup)" "13" "0000502020" "00005519" "95" "1417" "0" "1419" "0" "c.1417_1419dup" "r.(?)" "p.(Asp473dup)" "13" "0000502021" "00005519" "55" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Asp473Gly)" "13" "0000502022" "00005519" "95" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "13" "0000502023" "00005519" "95" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "13" "0000502024" "00005519" "95" "1435" "0" "1435" "0" "c.1435G>C" "r.(?)" "p.(Asp479His)" "13" "0000502025" "00005519" "95" "1435" "0" "1435" "0" "c.1435G>T" "r.(?)" "p.(Asp479Tyr)" "13" "0000502026" "00005519" "95" "1445" "0" "1445" "0" "c.1445A>G" "r.(?)" "p.(Asp482Gly)" "13" "0000502027" "00005519" "95" "1445" "0" "1445" "0" "c.1445A>G" "r.(?)" "p.(Asp482Gly)" "13" "0000502028" "00005519" "95" "1467" "0" "1467" "0" "c.1467C>G" "r.(?)" "p.(Asn489Lys)" "13" "0000502029" "00005519" "95" "1475" "0" "1475" "0" "c.1475A>C" "r.(?)" "p.(Gln492Pro)" "13" "0000502030" "00005519" "95" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Gly501Asp)" "14" "0000502031" "00005519" "95" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Gly501Asp)" "14" "0000502032" "00005519" "95" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Gly501Asp)" "14" "0000502033" "00005519" "55" "1504" "0" "1504" "0" "c.1504G>T" "r.(?)" "p.(Asp502Tyr)" "14" "0000502034" "00005519" "95" "1511" "0" "1511" "0" "c.1511G>C" "r.(?)" "p.(Cys504Ser)" "14" "0000502035" "00005519" "95" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asp507Gly)" "14" "0000502036" "00005519" "95" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asp507Gly)" "14" "0000502037" "00005519" "95" "1526" "0" "1526" "0" "c.1526A>C" "r.(?)" "p.(Asp509Ala)" "14" "0000502038" "00005519" "95" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Asp509Gly)" "14" "0000502039" "00005519" "95" "1529" "0" "1540" "0" "c.1529_1540del" "r.(?)" "p.(Ala510_Val513del)" "14" "0000502040" "00005519" "95" "1531" "0" "1531" "0" "c.1531G>C" "r.(?)" "p.(Asp511His)" "14" "0000502041" "00005519" "95" "1531" "0" "1531" "0" "c.1531G>T" "r.(?)" "p.(Asp511Tyr)" "14" "0000502042" "00005519" "95" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(Asp511Gly)" "14" "0000502043" "00005519" "95" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(Asp511Gly)" "14" "0000502044" "00005519" "95" "1537" "0" "1548" "0" "c.1537_1548del" "r.(?)" "p.(Val513_Lys516del)" "14" "0000502045" "00005519" "95" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Asp518Asn)" "14" "0000502046" "00005519" "95" "1552" "0" "1552" "0" "c.1552G>C" "r.(?)" "p.(Asp518His)" "14" "0000502047" "00005519" "95" "1553" "0" "1553" "0" "c.1553A>G" "r.(?)" "p.(Asp518Gly)" "14" "0000502048" "00005519" "95" "1569" "0" "1569" "0" "c.1569C>G" "r.(?)" "p.(Asn523Lys)" "14" "0000502049" "00005519" "95" "1569" "0" "1569" "0" "c.1569C>G" "r.(?)" "p.(Asn523Lys)" "14" "0000502050" "00005519" "95" "1569" "0" "1569" "0" "c.1569C>G" "r.(?)" "p.(Asn523Lys)" "14" "0000502051" "00005519" "95" "1579" "0" "1579" "0" "c.1579A>G" "r.(?)" "p.(Thr527Ala)" "14" "0000502052" "00005519" "95" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Thr529Ile)" "14" "0000502053" "00005519" "95" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Thr529Ile)" "14" "0000502054" "00005519" "95" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Thr529Ile)" "14" "0000502055" "00005519" "95" "1665" "0" "1665" "0" "c.1665C>A" "r.(?)" "p.(Asn555Lys)" "14" "0000502056" "00005519" "95" "1665" "0" "1665" "0" "c.1665C>G" "r.(?)" "p.(Asn555Lys)" "14" "0000502057" "00005519" "95" "1747" "0" "1747" "0" "c.1747G>A" "r.(?)" "p.(Glu583Lys)" "16" "0000502058" "00005519" "95" "1754" "0" "1754" "0" "c.1754C>G" "r.(?)" "p.(Thr585Arg)" "16" "0000502059" "00005519" "95" "1760" "0" "1760" "0" "c.1760A>G" "r.(?)" "p.(His587Arg)" "16" "0000502060" "00005519" "95" "1813" "0" "1813" "0" "c.1813G>A" "r.(?)" "p.(Asp605Asn)" "16" "0000502061" "00005519" "95" "2042" "0" "2042" "0" "c.2042C>G" "r.(?)" "p.(Ser681Cys)" "17" "0000502062" "00005519" "95" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Trp)" "18" "0000502063" "00005519" "95" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Trp)" "18" "0000502064" "00005519" "95" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Trp)" "18" "0000502065" "00005519" "95" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Trp)" "18" "0000502066" "00005519" "55" "2152" "0" "2152" "0" "c.2152C>T" "r.(?)" "p.(Arg718Trp)" "18" "0000502067" "00005519" "95" "2153" "0" "2153" "0" "c.2153G>C" "r.(?)" "p.(Arg718Pro)" "18" "0000502068" "00005519" "95" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Gly719Ser)" "18" "0000502069" "00005519" "95" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Gly719Ser)" "18" "0000502070" "00005519" "95" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Gly719Asp)" "18" "0000502071" "00005519" "95" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Gly719Asp)" "18" "0000566633" "00005519" "30" "2267" "0" "2267" "0" "c.2267A>G" "r.(?)" "p.(Gln756Arg)" "" "0000566634" "00005519" "30" "2262" "0" "2262" "0" "c.2262G>A" "r.(?)" "p.(Leu754=)" "" "0000566635" "00005519" "30" "2227" "18" "2227" "18" "c.2227+18G>A" "r.(=)" "p.(=)" "" "0000566636" "00005519" "10" "2227" "8" "2227" "8" "c.2227+8G>A" "r.(=)" "p.(=)" "" "0000566637" "00005519" "90" "2227" "1" "2227" "1" "c.2227+1G>C" "r.spl?" "p.?" "" "0000566638" "00005519" "70" "2201" "0" "2201" "0" "c.2201G>A" "r.(?)" "p.(Trp734Ter)" "" "0000566639" "00005519" "50" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Val697Ala)" "" "0000566640" "00005519" "30" "1956" "0" "1956" "0" "c.1956C>T" "r.(?)" "p.(Asn652=)" "" "0000566641" "00005519" "30" "1668" "20" "1668" "20" "c.1668+20G>T" "r.(=)" "p.(=)" "" "0000566642" "00005519" "30" "1668" "13" "1668" "13" "c.1668+13T>G" "r.(=)" "p.(=)" "" "0000566643" "00005519" "30" "1587" "0" "1587" "0" "c.1587C>T" "r.(?)" "p.(Thr529=)" "" "0000566644" "00005519" "90" "1569" "0" "1569" "0" "c.1569C>G" "r.(?)" "p.(Asn523Lys)" "" "0000566645" "00005519" "90" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(Asp511Gly)" "" "0000566646" "00005519" "30" "1506" "0" "1506" "0" "c.1506C>T" "r.(?)" "p.(Asp502=)" "" "0000566647" "00005519" "30" "1443" "0" "1443" "0" "c.1443G>A" "r.(?)" "p.(Arg481=)" "" "0000566648" "00005519" "10" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Asn386Asp)" "" "0000566650" "00005519" "50" "951" "0" "951" "0" "c.951C>A" "r.(?)" "p.(Asp317Glu)" "" "0000566651" "00005519" "50" "951" "0" "951" "0" "c.951C>A" "r.(?)" "p.(Asp317Glu)" "" "0000566652" "00005519" "30" "848" "0" "848" "0" "c.848C>G" "r.(?)" "p.(Pro283Arg)" "" "0000566653" "00005519" "30" "762" "15" "762" "15" "c.762+15G>A" "r.(=)" "p.(=)" "" "0000566654" "00005519" "30" "739" "0" "739" "0" "c.739C>A" "r.(?)" "p.(Arg247Ser)" "" "0000566655" "00005519" "30" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Ala171Thr)" "" "0000566656" "00005519" "30" "468" "0" "468" "0" "c.468G>T" "r.(?)" "p.(Pro156=)" "" "0000566657" "00005519" "30" "218" "-6" "218" "-6" "c.218-6C>G" "r.(=)" "p.(=)" "" "0000566658" "00005519" "30" "218" "-7" "218" "-7" "c.218-7C>G" "r.(=)" "p.(=)" "" "0000566659" "00005519" "30" "218" "-14" "218" "-14" "c.218-14C>T" "r.(=)" "p.(=)" "" "0000566660" "00005519" "30" "218" "-15" "218" "-15" "c.218-15C>A" "r.(=)" "p.(=)" "" "0000617469" "00005519" "30" "2227" "8" "2227" "8" "c.2227+8G>C" "r.(=)" "p.(=)" "" "0000617470" "00005519" "70" "2213" "0" "2213" "0" "c.2213G>A" "r.(?)" "p.(Arg738His)" "" "0000617471" "00005519" "50" "1559" "0" "1559" "0" "c.1559G>A" "r.(?)" "p.(Cys520Tyr)" "" "0000617472" "00005519" "30" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Gly120=)" "" "0000649924" "00005519" "30" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Asn386Asp)" "" "0000658530" "00005519" "50" "1790" "0" "1790" "0" "c.1790C>A" "r.(?)" "p.(Ala597Glu)" "" "0000669467" "00005519" "30" "1156" "0" "1156" "0" "c.1156A>G" "r.(?)" "p.(Asn386Asp)" "" "0000692726" "00005519" "70" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Asp473Asn)" "" "0000727215" "00005519" "50" "976" "-2" "976" "-2" "c.976-2del" "r.spl?" "p.?" "" "0000727216" "00005519" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000727217" "00005519" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000729884" "00005519" "90" "1393" "0" "1393" "0" "c.1393G>C" "r.(?)" "p.(Gly465Arg)" "" "0000760703" "00005519" "90" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Gly719Ser)" "18" "0000760704" "00005519" "70" "1342" "0" "1342" "0" "c.1342T>G" "r.(?)" "p.(Cys448Gly)" "13" "0000760711" "00005519" "90" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Asp317Asn)" "" "0000760810" "00005519" "70" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "13" "0000795661" "00005519" "70" "2156" "0" "2156" "0" "c.2156G>A" "r.(?)" "p.(Gly719Asp)" "" "0000808773" "00005519" "90" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Thr585Met)" "" "0000808774" "00005519" "90" "1228" "0" "1228" "0" "c.1228T>A" "r.(?)" "p.(Cys410Ser)" "" "0000808775" "00005519" "50" "821" "0" "821" "0" "c.821G>T" "r.(?)" "p.(Gly274Val)" "" "0000808776" "00005519" "30" "468" "0" "468" "0" "c.468G>T" "r.(?)" "p.(Pro156=)" "" "0000808777" "00005519" "30" "337" "0" "337" "0" "c.337C>T" "r.(?)" "p.(Pro113Ser)" "" "0000831109" "00005519" "70" "1585" "0" "1585" "0" "c.1585A>G" "r.(?)" "p.(Thr529Ala)" "" "0000831110" "00005519" "70" "1526" "0" "1526" "0" "c.1526A>T" "r.(?)" "p.(Asp509Val)" "" "0000831111" "00005519" "70" "1423" "0" "1423" "0" "c.1423G>C" "r.(?)" "p.(Asp475His)" "" "0000831112" "00005519" "90" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Asp509Gly)" "" "0000831113" "00005519" "90" "1526" "0" "1526" "0" "c.1526A>G" "r.(?)" "p.(Asp509Gly)" "" "0000831114" "00005519" "90" "1417" "0" "1417" "0" "c.1417G>C" "r.(?)" "p.(Asp473His)" "" "0000831115" "00005519" "90" "1417" "0" "1419" "0" "c.1417_1419del" "r.(?)" "p.(Asp473del)" "" "0000855492" "00005519" "30" "1669" "-5" "1669" "-5" "c.1669-5A>C" "r.spl?" "p.?" "" "0000865965" "00005519" "30" "2228" "-19" "2228" "-19" "c.2228-19G>A" "r.(=)" "p.(=)" "" "0000865966" "00005519" "70" "2186" "0" "2186" "0" "c.2186A>T" "r.(?)" "p.(Gln729Leu)" "" "0000865967" "00005519" "30" "2152" "0" "2152" "0" "c.2152C>A" "r.(?)" "p.(Arg718=)" "" "0000865968" "00005519" "70" "1790" "0" "1790" "0" "c.1790C>A" "r.(?)" "p.(Ala597Glu)" "" "0000865969" "00005519" "50" "1767" "0" "1767" "0" "c.1767C>A" "r.(?)" "p.(Asn589Lys)" "" "0000865970" "00005519" "30" "1668" "13" "1668" "13" "c.1668+13T>A" "r.(=)" "p.(=)" "" "0000865971" "00005519" "30" "1490" "-10" "1490" "-10" "c.1490-10del" "r.(=)" "p.(=)" "" "0000865972" "00005519" "30" "1489" "13" "1489" "13" "c.1489+13C>G" "r.(=)" "p.(=)" "" "0000865973" "00005519" "30" "1308" "-18" "1308" "-18" "c.1308-18C>G" "r.(=)" "p.(=)" "" "0000865974" "00005519" "50" "1294" "0" "1294" "0" "c.1294A>T" "r.(?)" "p.(Ser432Cys)" "" "0000865975" "00005519" "30" "975" "16" "975" "16" "c.975+16G>A" "r.(=)" "p.(=)" "" "0000865976" "00005519" "90" "908" "0" "911" "0" "c.908_911dup" "r.(?)" "p.(Arg305Glyfs*21)" "" "0000865977" "00005519" "30" "868" "-4" "868" "-4" "c.868-4C>T" "r.spl?" "p.?" "" "0000865978" "00005519" "30" "867" "17" "867" "17" "c.867+17C>G" "r.(=)" "p.(=)" "" "0000865979" "00005519" "30" "867" "15" "867" "17" "c.867+15_867+17del" "r.(=)" "p.(=)" "" "0000865980" "00005519" "50" "867" "15" "867" "15" "c.867+15A>T" "r.(=)" "p.(=)" "" "0000865981" "00005519" "10" "867" "15" "867" "15" "c.867+15A>G" "r.(=)" "p.(=)" "" "0000865982" "00005519" "30" "867" "12" "867" "12" "c.867+12C>G" "r.(=)" "p.(=)" "" "0000865983" "00005519" "30" "867" "6" "867" "6" "c.867+6T>G" "r.(=)" "p.(=)" "" "0000865984" "00005519" "10" "867" "2" "867" "2" "c.867+2T>G" "r.spl?" "p.?" "" "0000865985" "00005519" "90" "827" "0" "827" "0" "c.827C>G" "r.(?)" "p.(Pro276Arg)" "" "0000865986" "00005519" "50" "763" "-6" "763" "-6" "c.763-6C>G" "r.(=)" "p.(=)" "" "0000865987" "00005519" "30" "762" "12" "762" "12" "c.762+12C>A" "r.(=)" "p.(=)" "" "0000865988" "00005519" "30" "762" "8" "762" "8" "c.762+8C>A" "r.(=)" "p.(=)" "" "0000865989" "00005519" "30" "750" "0" "750" "0" "c.750G>A" "r.(?)" "p.(Ser250=)" "" "0000865990" "00005519" "50" "686" "0" "686" "0" "c.686G>A" "r.(?)" "p.(Cys229Tyr)" "" "0000865991" "00005519" "50" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(Gln176Arg)" "" "0000865992" "00005519" "30" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Thr162Ile)" "" "0000865994" "00005519" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Gly94Ser)" "" "0000865995" "00005519" "30" "279" "0" "279" "0" "c.279C>A" "r.(?)" "p.(Pro93=)" "" "0000865996" "00005519" "90" "240" "0" "240" "0" "c.240del" "r.(?)" "p.(Gly81Alafs*165)" "" "0000865997" "00005519" "30" "218" "-12" "218" "-12" "c.218-12T>A" "r.(=)" "p.(=)" "" "0000865998" "00005519" "30" "217" "11" "217" "11" "c.217+11C>A" "r.(=)" "p.(=)" "" "0000865999" "00005519" "30" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Thr65=)" "" "0000866000" "00005519" "30" "132" "0" "132" "0" "c.132G>A" "r.(?)" "p.(Ala44=)" "" "0000866001" "00005519" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Thr12=)" "" "0000877065" "00005519" "90" "1519" "0" "1519" "0" "c.1519G>T" "r.(?)" "p.(Asp507Tyr)" "" "0000877073" "00005519" "90" "1553" "0" "1553" "0" "c.1553A>T" "r.(?)" "p.(Asp518Val)" "" "0000877074" "00005519" "90" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Cys351Tyr)" "" "0000877075" "00005519" "90" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Asp446Gly)" "" "0000877076" "00005519" "90" "1309" "0" "1309" "0" "c.1309G>T" "r.(?)" "p.(Asp437Tyr)" "" "0000894876" "00005519" "50" "2059" "0" "2059" "0" "c.2059del" "r.(?)" "p.(Gln687Serfs*?)" "" "0000894877" "00005519" "30" "1255" "-5" "1255" "-5" "c.1255-5C>T" "r.spl?" "p.?" "" "0000894878" "00005519" "50" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Trp344*)" "" "0000894879" "00005519" "30" "867" "19" "867" "19" "c.867+19G>C" "r.(=)" "p.(=)" "" "0000894880" "00005519" "30" "867" "17" "867" "17" "c.867+17C>A" "r.(=)" "p.(=)" "" "0000894881" "00005519" "50" "867" "15" "867" "16" "c.867+15_867+16insT" "r.(=)" "p.(=)" "" "0000894882" "00005519" "30" "441" "0" "441" "0" "c.441G>C" "r.(?)" "p.(Pro147=)" "" "0000894883" "00005519" "30" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Val128Ile)" "" "0000894884" "00005519" "30" "297" "0" "297" "0" "c.297C>A" "r.(?)" "p.(Gly99=)" "" "0000894885" "00005519" "30" "218" "-4" "218" "-4" "c.218-4G>C" "r.spl?" "p.?" "" "0000915169" "00005519" "50" "2227" "0" "2227" "0" "c.2227G>A" "r.(?)" "p.(Asp743Asn)" "" "0000915170" "00005519" "30" "1962" "0" "1962" "0" "c.1962G>A" "r.(?)" "p.(Leu654=)" "" "0000915171" "00005519" "30" "1680" "0" "1680" "0" "c.1680C>T" "r.(?)" "p.(Ile560=)" "" "0000915172" "00005519" "30" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(Glu559=)" "" "0000915173" "00005519" "30" "1470" "0" "1470" "0" "c.1470C>G" "r.(?)" "p.(Pro490=)" "" "0000915174" "00005519" "70" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Asp374Asn)" "" "0000915175" "00005519" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Pro234Ser)" "" "0000915176" "00005519" "30" "679" "0" "679" "0" "c.679C>A" "r.(?)" "p.(Arg227Ser)" "" "0000915177" "00005519" "50" "643" "0" "643" "0" "c.643G>C" "r.(?)" "p.(Gly215Arg)" "" "0000915178" "00005519" "30" "255" "0" "255" "0" "c.255G>A" "r.(?)" "p.(Val85=)" "" "0000926848" "00005519" "30" "868" "-16" "868" "-16" "c.868-16C>T" "r.(=)" "p.(=)" "" "0000926849" "00005519" "30" "378" "0" "378" "0" "c.378C>T" "r.(?)" "p.(Thr126=)" "" "0000926850" "00005519" "30" "218" "-5" "218" "-5" "c.218-5C>G" "r.spl?" "p.?" "" "0000931025" "00005519" "30" "2227" "17" "2227" "17" "c.2227+17C>T" "r.(=)" "p.(=)" "" "0000931027" "00005519" "30" "1563" "0" "1563" "0" "c.1563G>A" "r.(?)" "p.(=)" "" "0000931028" "00005519" "30" "1489" "8" "1489" "8" "c.1489+8G>A" "r.(=)" "p.(=)" "" "0000931029" "00005519" "30" "1488" "0" "1488" "0" "c.1488C>A" "r.(?)" "p.(Asp496Glu)" "" "0000931030" "00005519" "50" "968" "0" "968" "0" "c.968A>G" "r.(?)" "p.(Asn323Ser)" "" "0000931031" "00005519" "30" "848" "0" "848" "0" "c.848C>G" "r.(?)" "p.(Pro283Arg)" "" "0000931032" "00005519" "30" "11" "0" "11" "0" "c.11A>C" "r.(?)" "p.(Asp4Ala)" "" "0000933021" "00005519" "90" "1467" "0" "1467" "0" "c.1467C>A" "r.(?)" "p.(Asn489Lys)" "" "0000951258" "00005519" "10" "1755" "0" "1755" "0" "c.1755G>A" "r.(?)" "p.(=)" "" "0000951259" "00005519" "50" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Cys178Phe)" "" "0000969640" "00005519" "30" "2263" "0" "2263" "0" "c.2263C>T" "r.(?)" "p.(Arg755Trp)" "" "0000969641" "00005519" "30" "1764" "0" "1764" "0" "c.1764G>T" "r.(?)" "p.(=)" "" "0000983323" "00005519" "30" "1669" "-8" "1669" "-8" "c.1669-8C>A" "r.(=)" "p.(=)" "" "0000983324" "00005519" "50" "1331" "0" "1331" "0" "c.1331C>G" "r.(?)" "p.(Ser444Cys)" "" "0000983325" "00005519" "50" "1064" "0" "1064" "0" "c.1064A>G" "r.(?)" "p.(Lys355Arg)" "" "0000983326" "00005519" "50" "957" "0" "957" "0" "c.957C>A" "r.(?)" "p.(Asp319Glu)" "" "0000983327" "00005519" "50" "886" "0" "886" "0" "c.886C>G" "r.(?)" "p.(Pro296Ala)" "" "0000985241" "00005519" "70" "1829" "0" "1829" "0" "c.1829A>G" "r.(?)" "p.(Tyr610Cys)" "" "0001004537" "00005519" "50" "2015" "0" "2015" "0" "c.2015G>A" "r.(?)" "p.(Arg672Gln)" "" "0001004538" "00005519" "50" "1621" "0" "1621" "0" "c.1621C>T" "r.(?)" "p.(Pro541Ser)" "" "0001004539" "00005519" "50" "1186" "0" "1188" "0" "c.1186_1188del" "r.(?)" "p.(Lys396del)" "" "0001004540" "00005519" "50" "936" "0" "936" "0" "c.936C>A" "r.(?)" "p.(Cys312*)" "" "0001004541" "00005519" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Gly307Asp)" "" "0001004542" "00005519" "30" "868" "-11" "868" "-11" "c.868-11C>T" "r.(=)" "p.(=)" "" "0001004543" "00005519" "30" "868" "-12" "868" "-12" "c.868-12G>T" "r.(=)" "p.(=)" "" "0001004544" "00005519" "30" "867" "11" "867" "11" "c.867+11G>A" "r.(=)" "p.(=)" "" "0001004545" "00005519" "50" "673" "0" "674" "0" "c.673_674del" "r.(?)" "p.(Ala225Thrfs*46)" "" "0001004546" "00005519" "50" "533" "0" "533" "0" "c.533G>T" "r.(?)" "p.(Cys178Phe)" "" "0001004547" "00005519" "30" "496" "0" "496" "0" "c.496G>T" "r.(?)" "p.(Val166Leu)" "" "0001004548" "00005519" "50" "349" "0" "349" "0" "c.349G>A" "r.(?)" "p.(Gly117Ser)" "" "0001004549" "00005519" "30" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "" "0001004550" "00005519" "50" "201" "0" "201" "0" "c.201G>T" "r.(?)" "p.(Met67Ile)" "" "0001015768" "00005519" "50" "1970" "0" "1970" "0" "c.1970C>G" "r.(?)" "p.(Thr657Arg)" "" "0001015769" "00005519" "30" "1551" "0" "1551" "0" "c.1551C>T" "r.(?)" "p.(=)" "" "0001015770" "00005519" "30" "1035" "0" "1035" "0" "c.1035C>A" "r.(?)" "p.(=)" "" "0001015771" "00005519" "50" "546" "0" "546" "0" "c.546C>G" "r.(?)" "p.(Asn182Lys)" "" "0001015772" "00005519" "30" "218" "-14" "218" "-14" "c.218-14C>G" "r.(=)" "p.(=)" "" "0001027197" "00005519" "30" "1830" "0" "1830" "0" "c.1830C>T" "r.(?)" "p.(=)" "" "0001027198" "00005519" "30" "1490" "-18" "1490" "-18" "c.1490-18G>A" "r.(=)" "p.(=)" "" "0001027199" "00005519" "50" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Arg332Trp)" "" "0001027200" "00005519" "50" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Gly157Val)" "" "0001027201" "00005519" "50" "300" "0" "302" "0" "c.300_302dup" "r.(?)" "p.(Ala101dup)" "" "0001027202" "00005519" "50" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Val8Ile)" "" "0001042800" "00005519" "50" "1741" "0" "1741" "0" "c.1741G>C" "r.(?)" "p.(Asp581His)" "" "0001042801" "00005519" "70" "1079" "0" "1079" "0" "c.1079dup" "r.(?)" "p.(Asp361Glyfs*29)" "" "0001042802" "00005519" "30" "924" "0" "924" "0" "c.924C>T" "r.(?)" "p.(=)" "" "0001042803" "00005519" "50" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Glu284Lys)" "" "0001042804" "00005519" "30" "763" "-8" "763" "-8" "c.763-8T>C" "r.(=)" "p.(=)" "" "0001046727" "00005519" "50" "1035" "0" "1035" "0" "c.1035C>A" "r.(?)" "p.(=)" "" "0001056583" "00005519" "50" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Arg672*)" "" "0001059605" "00005519" "70" "983" "0" "983" "0" "c.983G>T" "r.(?)" "p.(Cys328Phe)" "" "0001059606" "00005519" "70" "950" "0" "950" "0" "c.950A>G" "r.(?)" "p.(Asp317Gly)" "" "0001059607" "00005519" "70" "868" "0" "868" "0" "c.868G>T" "r.(?)" "p.(Asp290Tyr)" "" "0001059608" "00005519" "70" "1394" "0" "1394" "0" "c.1394G>T" "r.(?)" "p.(Gly465Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 221 "{{screeningid}}" "{{variantid}}" "0000081585" "0000132249" "0000248904" "0000501900" "0000248905" "0000501914" "0000248906" "0000501913" "0000248907" "0000502005" "0000248908" "0000502006" "0000248909" "0000502007" "0000248910" "0000502008" "0000248911" "0000502009" "0000248912" "0000501953" "0000248913" "0000501902" "0000248914" "0000501944" "0000248915" "0000501946" "0000248916" "0000502044" "0000248917" "0000501986" "0000248918" "0000501939" "0000248919" "0000501942" "0000248920" "0000501961" "0000248921" "0000501969" "0000248922" "0000501982" "0000248923" "0000501983" "0000248924" "0000502026" "0000248925" "0000501985" "0000248926" "0000501903" "0000248927" "0000501904" "0000248928" "0000501990" "0000248929" "0000502051" "0000248930" "0000501933" "0000248931" "0000501976" "0000248932" "0000501988" "0000248933" "0000502003" "0000248934" "0000502022" "0000248935" "0000502035" "0000248936" "0000502037" "0000248937" "0000502038" "0000248938" "0000502040" "0000248939" "0000502059" "0000248940" "0000501915" "0000248941" "0000501908" "0000248942" "0000501938" "0000248943" "0000501940" "0000248944" "0000501960" "0000248945" "0000501916" "0000248946" "0000501917" "0000248947" "0000501918" "0000248948" "0000502045" "0000248949" "0000502070" "0000248950" "0000501877" "0000248951" "0000501930" "0000248952" "0000501893" "0000248953" "0000501962" "0000248954" "0000501980" "0000248955" "0000502046" "0000248956" "0000502057" "0000248957" "0000501923" "0000248958" "0000501925" "0000248959" "0000501928" "0000248960" "0000501932" "0000248961" "0000501994" "0000248962" "0000501998" "0000248963" "0000501975" "0000248964" "0000501894" "0000248965" "0000501989" "0000248966" "0000502071" "0000248967" "0000501937" "0000248968" "0000502028" "0000248969" "0000501910" "0000248970" "0000501897" "0000248971" "0000501911" "0000248972" "0000501912" "0000248973" "0000501892" "0000248974" 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