### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DSC2)
# 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}}"
"DSC2" "desmocollin 2" "18" "q12.1" "unknown" "LRG_400" "UD_132118963380" "" "https://www.LOVD.nl/DSC2" "ARVD/C genetic variants database " "1" "3036" "1824" "125645" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DSC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-01-21 00:00:00" "00006" "2018-12-23 12:11:02" "00000" "2022-05-09 16:01:56"
## 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}}"
"00006702" "DSC2" "transcript variant Dsc2b" "002" "NM_004949.3" "" "NP_004940.1" "" "" "" "-454" "4791" "2544" "28682388" "28645942" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40"
"00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01"
"02948" "ARVD11" "dysplasia, ventricular, right, arrhythmogenic, type 11 (ARVD-11)" "AD;AR" "610476" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43"
"04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50"
"05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00"
"05099" "ARVD/C" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "" "" "" "" "00006" "2015-10-31 14:39:33" "00006" "2018-12-23 15:01:47"
"05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" ""
"05330" "TSC" "tuberous sclerosis (TSC)" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "" ""
"05449" "MHS" "hyperthermia, malignant, susceptibility (MHS)" "" "" "" "" "" "00006" "2018-07-05 14:19:36" "00006" "2018-07-05 14:20:58"
"05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"DSC2" "02948"
## Individuals ## Do not remove or alter this header ##
## Count = 144
"{{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}}"
"00016142" "" "" "" "1" "" "00668" "{PMID:Vrijenhoek 2015:25626705}, {DOI:Vrijenhoek 2015:10.1038/ejhg.2014.279}" "" "?" "?" "Netherlands" "" "0" "" "" "white" ""
"00064081" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064091" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064092" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064114" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064136" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064146" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064149" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064166" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064186" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064189" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064192" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064201" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064212" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064216" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00064266" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00128477" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "266"
"00163864" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "" "yes" "" "" ""
"00209050" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" ""
"00209051" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" ""
"00209052" "" "" "" "4" "" "00802" "{PMID:Beffagna:17963498}, {PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" ""
"00209053" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" ""
"00209054" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" ""
"00209055" "" "" "" "1" "" "00802" "{PMID:Heuser:17186466}" "" "" "" "" "" "0" "" "" "" ""
"00209056" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" ""
"00209057" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" ""
"00209058" "" "" "" "2" "" "00802" "{PMID:Beffagna:17963498}, {PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" ""
"00209059" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" ""
"00209060" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" ""
"00209061" "" "" "" "2" "" "00802" "{PMID:Syrris:17033975}" "" "" "" "" "" "0" "" "" "" ""
"00209062" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209063" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" ""
"00209064" "" "" "" "2" "" "00802" "{PMID:Simpson:18957847}" "" "" "" "" "" "0" "" "" "" ""
"00209065" "" "" "" "1" "" "00802" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" ""
"00209066" "" "" "" "0" "" "02140" "{PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" ""
"00209067" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" ""
"00209068" "" "" "" "1" "" "00802" "{PMID:Yu:18632414}" "" "" "" "" "" "0" "" "" "" ""
"00209069" "" "" "" "1" "" "00802" "{PMID:Posch:18678517}" "" "" "" "" "" "0" "" "" "" ""
"00209070" "" "" "" "5" "" "00802" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}" "" "" "" "" "" "0" "" "" "" ""
"00209071" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209072" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "4 out of 5 patients carried one or two mutations in different ARVC/D genes (De Bortoli et al.)" "" "" "" "" "0" "" "" "" ""
"00209073" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" ""
"00209074" "" "" "" "1" "" "00802" "{PMID:Syrris et al.:17033975}" "" "" "" "" "" "0" "" "" "" ""
"00209075" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209076" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209077" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209078" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209079" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209080" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209081" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209082" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209083" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209084" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209085" "" "" "" "13" "" "00802" "Tsatsopoulou (escardio.org ID19 2397)" "" "" "" "" "" "0" "" "" "" ""
"00209086" "" "" "" "3" "" "00802" "Tsatsopoulou (escardio.org ID19 2397)" "JUP variant found in 3 relatives of DSC2 p.Ala45ProfsX10 proband" "" "" "" "" "0" "" "" "" ""
"00209087" "" "" "" "1" "" "00802" "Rampazzo 2008 (escardio.org ID24 4371)" "" "" "" "" "" "0" "" "" "" ""
"00209088" "" "" "" "1" "" "00802" "{PMID:den Haan:20031617}" "" "" "" "" "" "0" "" "" "" ""
"00209089" "" "" "" "1" "" "00802" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}" "" "" "" "" "" "0" "" "" "" ""
"00209090" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209091" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209092" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209093" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209094" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209095" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209096" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209097" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" ""
"00209098" "" "" "" "1" "" "00802" "{PMID:Barahona-Dussault:19863551}" "" "" "" "" "" "0" "" "" "" ""
"00209099" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" ""
"00209100" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" ""
"00209101" "" "" "" "1" "" "00802" "onlinejacc.org Abs 55/6/587:Xu}" "" "" "" "" "" "0" "" "" "" ""
"00209102" "" "" "" "1" "" "00802" "{PMID:De Bortoli:20197793}" "" "" "" "" "" "0" "" "" "" ""
"00209103" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209104" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209105" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209106" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209107" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209108" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209109" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209110" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209111" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209112" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209113" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209114" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209115" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209116" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209117" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209118" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209119" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209120" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209121" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209122" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209123" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209124" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209125" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209126" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209127" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209128" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209129" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209130" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209131" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209132" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209133" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209134" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209135" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209136" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209137" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209138" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209139" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209140" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209141" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209142" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209143" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209144" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209145" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209146" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209147" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209148" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209149" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209150" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209151" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209152" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209153" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209154" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209155" "" "" "" "1" "" "00802" "" "" "" "" "" "" "0" "" "" "" ""
"00209993" "" "" "00209994" "1" "" "00006" "{PMID:Xu 2010:20152563}" "" "F" "" "United States" "" "0" "" "" "" "20152563-Pat10"
"00291927" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291928" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305352" "" "" "" "1" "" "01164" "" "" "F" "?" "? (unknown)" "" "0" "" "" "" "112736"
"00305353" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" "160160"
"00305354" "" "" "" "1" "" "01164" "" "" "F" "?" "? (unknown)" "" "0" "" "" "" "139749"
"00305355" "" "" "" "1" "" "01164" "" "" "M" "?" "? (unknown)" "" "0" "" "" "" "163901"
"00308754" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" ""
"00309869" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "HL021"
"00316825" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316959" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316960" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316961" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316962" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316963" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316964" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316965" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00316966" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00317729" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" ""
"00320288" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "M" "" "Australia" "" "0" "" "" "Asia-SE" "BTT1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 145
"{{individualid}}" "{{diseaseid}}"
"00016142" "00351"
"00064081" "00351"
"00064091" "00351"
"00064092" "00351"
"00064114" "00351"
"00064136" "00351"
"00064146" "00351"
"00064149" "00351"
"00064166" "00351"
"00064186" "00351"
"00064189" "00351"
"00064192" "00351"
"00064201" "00351"
"00064212" "00351"
"00064216" "00351"
"00064266" "00351"
"00128477" "00198"
"00163864" "00351"
"00209050" "00198"
"00209051" "00198"
"00209052" "05099"
"00209053" "00198"
"00209054" "00198"
"00209055" "05099"
"00209056" "05099"
"00209057" "00198"
"00209058" "05099"
"00209059" "05099"
"00209060" "00198"
"00209061" "05099"
"00209062" "05099"
"00209063" "05099"
"00209064" "05099"
"00209065" "05099"
"00209066" "05158"
"00209067" "00198"
"00209068" "00198"
"00209069" "00198"
"00209070" "05099"
"00209071" "00198"
"00209072" "05099"
"00209073" "00198"
"00209074" "00198"
"00209075" "00198"
"00209076" "00198"
"00209077" "00198"
"00209078" "00198"
"00209079" "00198"
"00209080" "00198"
"00209081" "00198"
"00209082" "00198"
"00209083" "00198"
"00209084" "00198"
"00209085" "05099"
"00209086" "00198"
"00209087" "05099"
"00209088" "00198"
"00209089" "00198"
"00209090" "00198"
"00209091" "00198"
"00209092" "00198"
"00209093" "00198"
"00209094" "00198"
"00209095" "00198"
"00209096" "00198"
"00209097" "05099"
"00209098" "05099"
"00209099" "05099"
"00209100" "05099"
"00209101" "05099"
"00209102" "00198"
"00209103" "00198"
"00209104" "00198"
"00209105" "00198"
"00209106" "00198"
"00209107" "00198"
"00209108" "00198"
"00209109" "00198"
"00209110" "00198"
"00209111" "00198"
"00209112" "00198"
"00209113" "00198"
"00209114" "00198"
"00209115" "00198"
"00209116" "00198"
"00209117" "00198"
"00209118" "00198"
"00209119" "00198"
"00209120" "00198"
"00209121" "00198"
"00209122" "00198"
"00209123" "00198"
"00209124" "00198"
"00209125" "00198"
"00209126" "00198"
"00209127" "00198"
"00209128" "00198"
"00209129" "00198"
"00209130" "00198"
"00209131" "00198"
"00209132" "00198"
"00209133" "00198"
"00209134" "00198"
"00209135" "00198"
"00209136" "00198"
"00209137" "00198"
"00209138" "00198"
"00209139" "00198"
"00209140" "00198"
"00209141" "00198"
"00209142" "00198"
"00209143" "00198"
"00209144" "00198"
"00209145" "00198"
"00209146" "00198"
"00209147" "00198"
"00209148" "00198"
"00209149" "00198"
"00209150" "00198"
"00209151" "00198"
"00209152" "00198"
"00209153" "00198"
"00209154" "00198"
"00209155" "00198"
"00209993" "05099"
"00291927" "00198"
"00291928" "00198"
"00305352" "05330"
"00305353" "05449"
"00305354" "05613"
"00305355" "04293"
"00308754" "00000"
"00309869" "05086"
"00309869" "05158"
"00316825" "04172"
"00316959" "04172"
"00316960" "04172"
"00316961" "04172"
"00316962" "04172"
"00316963" "04172"
"00316964" "04172"
"00316965" "04172"
"00316966" "04172"
"00317729" "04172"
"00320288" "04172"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 02948, 04172, 04293, 05086, 05099, 05158, 05330, 05449, 05613
## Count = 142
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Seizures}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Disease/Status}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000014927" "00351" "00016142" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050597" "00351" "00064081" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050607" "00351" "00064091" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050608" "00351" "00064092" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050630" "00351" "00064114" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050652" "00351" "00064136" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050662" "00351" "00064146" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050665" "00351" "00064149" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050682" "00351" "00064166" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050702" "00351" "00064186" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050705" "00351" "00064189" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050708" "00351" "00064192" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050717" "00351" "00064201" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050728" "00351" "00064212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050732" "00351" "00064216" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000050782" "00351" "00064266" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000100699" "00198" "00128477" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "" ""
"0000128976" "00351" "00163864" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000157656" "00198" "00209050" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157657" "00198" "00209051" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157658" "05099" "00209052" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157659" "00198" "00209053" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157660" "00198" "00209054" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157661" "05099" "00209055" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157662" "05099" "00209056" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative (1 major and 1 minor TFC. )" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157663" "00198" "00209057" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157664" "05099" "00209058" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157665" "05099" "00209059" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative (1 major and 1 minor TFC )" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157666" "00198" "00209060" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157667" "05099" "00209061" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157668" "05099" "00209062" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative (1 major OR 2 minor TFC )" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157669" "05099" "00209063" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157670" "05099" "00209064" "00802" "Familial, autosomal recessive" "" "left-sided ARVD/C, Task Force Criteria positive; wooly hair; palmoplantar keratoderma" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "dysplasia, arrhythmogenic right ventricular (ARVD), arrhythmogenic right ventricular cardiomyopathy (ARVC)" "" "" ""
"0000157671" "05099" "00209065" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157672" "05158" "00209066" "02140" "Unknown" "" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000157673" "00198" "00209067" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157674" "00198" "00209068" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157675" "00198" "00209069" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157676" "05099" "00209070" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157677" "00198" "00209071" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157678" "05099" "00209072" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157679" "00198" "00209073" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157680" "00198" "00209074" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157681" "00198" "00209075" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157682" "00198" "00209076" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157683" "00198" "00209077" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157684" "00198" "00209078" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157685" "00198" "00209079" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157686" "00198" "00209080" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157687" "00198" "00209081" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157688" "00198" "00209082" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157689" "00198" "00209083" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157690" "00198" "00209084" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157691" "05099" "00209085" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157692" "00198" "00209086" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157693" "05099" "00209087" "00802" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157694" "00198" "00209088" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157695" "00198" "00209089" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157696" "00198" "00209090" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157697" "00198" "00209091" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157698" "00198" "00209092" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157699" "00198" "00209093" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157700" "00198" "00209094" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157701" "00198" "00209095" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157702" "00198" "00209096" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157703" "05099" "00209097" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157704" "05099" "00209098" "00802" "Unknown" "" "ARVD/C, Task Force Criteria negative" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157705" "05099" "00209099" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157706" "05099" "00209100" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157707" "05099" "00209101" "00802" "Unknown" "" "ARVD/C, Task Force Criteria posi\tive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD-11" "ARVD/C" "" "" ""
"0000157708" "00198" "00209102" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157709" "00198" "00209103" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157710" "00198" "00209104" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157711" "00198" "00209105" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157712" "00198" "00209106" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157713" "00198" "00209107" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157714" "00198" "00209108" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157715" "00198" "00209109" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157716" "00198" "00209110" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157717" "00198" "00209111" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157718" "00198" "00209112" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157719" "00198" "00209113" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157720" "00198" "00209114" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157721" "00198" "00209115" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157722" "00198" "00209116" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157723" "00198" "00209117" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157724" "00198" "00209118" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157725" "00198" "00209119" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157726" "00198" "00209120" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157727" "00198" "00209121" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157728" "00198" "00209122" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157729" "00198" "00209123" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157730" "00198" "00209124" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157731" "00198" "00209125" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157732" "00198" "00209126" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157733" "00198" "00209127" "00802" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157734" "00198" "00209128" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157735" "00198" "00209129" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157736" "00198" "00209130" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157737" "00198" "00209131" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157738" "00198" "00209132" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157739" "00198" "00209133" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157740" "00198" "00209134" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157741" "00198" "00209135" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157742" "00198" "00209136" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157743" "00198" "00209137" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157744" "00198" "00209138" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157745" "00198" "00209139" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157746" "00198" "00209140" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157747" "00198" "00209141" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157748" "00198" "00209142" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157749" "00198" "00209143" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157750" "00198" "00209144" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157751" "00198" "00209145" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157752" "00198" "00209146" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157753" "00198" "00209147" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157754" "00198" "00209148" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157755" "00198" "00209149" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157756" "00198" "00209150" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157757" "00198" "00209151" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157758" "00198" "00209152" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157759" "00198" "00209153" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157760" "00198" "00209154" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000157761" "00198" "00209155" "00802" "Unknown" "" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "?" "" "" ""
"0000158592" "05099" "00209993" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVC" "" "" ""
"0000231202" "05330" "00305352" "01164" "Unknown" "01y" "Tuberous sclerosis, West syndrome, subependymal tubers, white spots" "" "" "" "" "no" "" "" "" "" "" "" "cortical tubers;skin lesions" "" "" "n/a" "affected" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000231203" "05449" "00305353" "01164" "Unknown" "41y" "Malignant hyperthermia; positive IVKT, several affected relatives; HPO: Malignant hyperthermia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000231204" "05613" "00305354" "01164" "Unknown" "40y" "Early onset of Parkinson\'s syndrome (ED 32. LJ.), positive family history (both grandfathers are affected)" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000231205" "04293" "00305355" "01164" "Unknown" "" "Optic atrophy" "" "" "" "nr" "" "" "abnormal" "" "" "" "" "" "" "" "" "" "" "" "" "nr" "OD RNFL ?" "normal" "OD ?" "?" "?" "" "" "nr" "" ""
"0000235184" "05086" "00309869" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular dysplasia (ARVD11) (AD)" "hearing loss" "" "" ""
"0000235192" "05158" "00309869" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "ARVD11" "" "" "" ""
"0000240571" "04172" "00316825" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "" ""
"0000240705" "04172" "00316959" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000240706" "04172" "00316960" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000240707" "04172" "00316961" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000240708" "04172" "00316962" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000240709" "04172" "00316963" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000240710" "04172" "00316964" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000240711" "04172" "00316965" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000240712" "04172" "00316966" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "arrhythmogenic right ventricular cardiomyopathy" "" "" ""
"0000241475" "04172" "00317729" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "" ""
"0000242316" "04172" "00320288" "00006" "Unknown" "24y" "see paper; ..., survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 144
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000016264" "00016142" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" ""
"0000064214" "00064081" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064224" "00064091" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064225" "00064092" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064247" "00064114" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064269" "00064136" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064279" "00064146" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064282" "00064149" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064299" "00064166" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064319" "00064186" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064322" "00064189" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064325" "00064192" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064334" "00064201" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064345" "00064212" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064349" "00064216" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" ""
"0000064399" "00064266" "1" "00006" "00006" "2016-04-27 09:28:54" "" "" "SEQ" "DNA" "" ""
"0000129315" "00128477" "1" "02244" "02244" "2017-09-15 18:42:17" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)"
"0000164728" "00163864" "1" "02438" "02438" "2018-04-22 16:31:09" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel"
"0000210107" "00209050" "1" "00802" "00802" "2009-01-21 16:43:50" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" ""
"0000210108" "00209051" "1" "00802" "00802" "2009-01-22 09:38:14" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210109" "00209052" "1" "00802" "00802" "2009-01-22 10:00:06" "00802" "2010-03-11 09:07:46" "SEQ" "DNA" "" ""
"0000210110" "00209053" "1" "00802" "00802" "2009-01-22 10:32:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210111" "00209054" "1" "00802" "00802" "2009-01-22 10:36:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210112" "00209055" "1" "00802" "00802" "2009-01-22 10:38:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210113" "00209056" "1" "00802" "00802" "2009-01-22 10:47:49" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" ""
"0000210114" "00209057" "1" "00802" "00802" "2009-01-22 10:50:42" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210115" "00209058" "1" "00802" "00802" "2009-01-22 10:55:37" "00802" "2010-03-11 09:07:46" "SEQ" "DNA" "" ""
"0000210116" "00209059" "1" "00802" "00802" "2009-01-22 10:57:53" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" ""
"0000210117" "00209060" "1" "00802" "00802" "2009-01-22 11:00:48" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210118" "00209061" "1" "00802" "00802" "2009-01-22 11:03:11" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210119" "00209062" "1" "00802" "00802" "2009-01-22 11:06:44" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210120" "00209063" "1" "00802" "00802" "2009-01-22 11:08:50" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" ""
"0000210121" "00209064" "1" "00802" "00802" "2009-01-22 11:11:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210122" "00209065" "1" "00802" "00802" "2009-01-22 11:18:14" "00802" "2010-02-05 15:47:21" "SEQ" "DNA" "" ""
"0000210123" "00209066" "1" "02140" "00802" "2017-07-11 13:21:34" "" "" "SEQ" "DNA" "" ""
"0000210124" "00209067" "1" "00802" "00802" "2009-01-22 11:33:12" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210125" "00209068" "1" "00802" "00802" "2009-01-22 11:36:16" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210126" "00209069" "1" "00802" "00802" "2009-01-22 12:02:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210127" "00209070" "1" "00802" "00802" "2009-01-22 12:12:58" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210128" "00209071" "1" "00802" "00802" "2009-02-23 10:22:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210129" "00209072" "1" "00802" "00802" "2009-06-17 16:49:17" "00802" "2010-03-11 09:16:41" "SEQ" "DNA" "" ""
"0000210130" "00209073" "1" "00802" "00802" "2009-06-18 14:31:33" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" ""
"0000210131" "00209074" "1" "00802" "00802" "2009-06-18 14:31:33" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" ""
"0000210132" "00209075" "1" "00802" "00802" "2009-02-23 09:59:53" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210133" "00209076" "1" "00802" "00802" "2009-02-23 10:01:21" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210134" "00209077" "1" "00802" "00802" "2009-02-23 10:02:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210135" "00209078" "1" "00802" "00802" "2009-02-23 10:03:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210136" "00209079" "1" "00802" "00802" "2009-02-23 10:05:35" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210137" "00209080" "1" "00802" "00802" "2009-02-23 10:07:01" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210138" "00209081" "1" "00802" "00802" "2009-02-23 10:08:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210139" "00209082" "1" "00802" "00802" "2009-02-23 10:17:53" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210140" "00209083" "1" "00802" "00802" "2009-02-23 10:18:50" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210141" "00209084" "1" "00802" "00802" "2009-02-23 10:22:57" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210142" "00209085" "1" "00802" "00802" "2009-06-17 16:02:45" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210143" "00209086" "1" "00802" "00802" "2009-06-17 16:09:41" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210144" "00209087" "1" "00802" "00802" "2009-06-17 16:46:04" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210145" "00209088" "1" "00802" "00802" "2009-06-18 14:23:43" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" ""
"0000210146" "00209089" "1" "00802" "00802" "2009-06-18 14:25:40" "00802" "2010-02-05 15:44:08" "SEQ" "DNA" "" ""
"0000210147" "00209090" "1" "00802" "00802" "2009-07-28 12:48:44" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210148" "00209091" "1" "00802" "00802" "2009-07-28 12:50:05" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210149" "00209092" "1" "00802" "00802" "2009-07-28 12:51:55" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210150" "00209093" "1" "00802" "00802" "2009-07-28 12:53:51" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210151" "00209094" "1" "00802" "00802" "2009-07-28 12:56:02" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210152" "00209095" "1" "00802" "00802" "2009-07-28 12:58:08" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210153" "00209096" "1" "00802" "00802" "2009-07-28 12:59:44" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210154" "00209097" "1" "00802" "00802" "2009-11-03 16:03:13" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210155" "00209098" "1" "00802" "00802" "2009-11-03 16:08:10" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" ""
"0000210156" "00209099" "1" "00802" "00802" "2010-02-05 13:41:28" "" "" "SEQ" "DNA" "" ""
"0000210157" "00209100" "1" "00802" "00802" "2010-02-05 13:44:18" "" "" "SEQ" "DNA" "" ""
"0000210158" "00209101" "1" "00802" "00802" "2010-02-05 13:47:36" "" "" "SEQ" "DNA" "" ""
"0000210159" "00209102" "1" "00802" "00802" "2010-03-11 09:13:31" "" "" "SEQ" "DNA" "" ""
"0000210160" "00209103" "1" "00802" "00802" "2014-08-13 14:14:19" "" "" "SEQ" "DNA" "" ""
"0000210161" "00209104" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210162" "00209105" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210163" "00209106" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210164" "00209107" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210165" "00209108" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210166" "00209109" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210167" "00209110" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210168" "00209111" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210169" "00209112" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210170" "00209113" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210171" "00209114" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210172" "00209115" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210173" "00209116" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210174" "00209117" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210175" "00209118" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210176" "00209119" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210177" "00209120" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210178" "00209121" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210179" "00209122" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210180" "00209123" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210181" "00209124" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210182" "00209125" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210183" "00209126" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210184" "00209127" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210185" "00209128" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210186" "00209129" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210187" "00209130" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210188" "00209131" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210189" "00209132" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210190" "00209133" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210191" "00209134" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210192" "00209135" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210193" "00209136" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210194" "00209137" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210195" "00209138" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210196" "00209139" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210197" "00209140" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210198" "00209141" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210199" "00209142" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210200" "00209143" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210201" "00209144" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210202" "00209145" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210203" "00209146" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210204" "00209147" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210205" "00209148" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210206" "00209149" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210207" "00209150" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210208" "00209151" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210209" "00209152" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210210" "00209153" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210211" "00209154" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000210212" "00209155" "1" "00802" "00802" "2014-08-13 14:19:43" "" "" "SEQ" "DNA" "" ""
"0000211050" "00209993" "1" "00006" "00006" "2018-12-24 19:18:24" "" "" "SEQ" "DNA" "" ""
"0000293095" "00291927" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293096" "00291928" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306481" "00305352" "1" "01164" "01164" "2020-06-24 14:13:01" "" "" "SEQ-NG-I" "DNA" "" ""
"0000306482" "00305353" "1" "01164" "01164" "2020-06-24 14:18:46" "" "" "SEQ-NG-I" "DNA" "" ""
"0000306483" "00305354" "1" "01164" "01164" "2020-06-24 15:06:45" "" "" "SEQ-NG-I" "DNA" "" ""
"0000306484" "00305355" "1" "01164" "01164" "2020-06-24 15:14:44" "" "" "SEQ-NG-I" "DNA" "" ""
"0000309899" "00308754" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES"
"0000311013" "00309869" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000318007" "00316825" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318141" "00316959" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318142" "00316960" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318143" "00316961" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318144" "00316962" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318145" "00316963" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318146" "00316964" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318147" "00316965" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318148" "00316966" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000318911" "00317729" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000321474" "00320288" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 149
"{{screeningid}}" "{{geneid}}"
"0000016264" "ACTN2"
"0000016264" "DSC2"
"0000016264" "LDB3"
"0000016264" "MYH7"
"0000016264" "MYPN"
"0000016264" "RYR2"
"0000016264" "TTN"
"0000064214" "TTN"
"0000064224" "TTN"
"0000064225" "TTN"
"0000064247" "TTN"
"0000064269" "TTN"
"0000064279" "TTN"
"0000064282" "TTN"
"0000064299" "TTN"
"0000064319" "TTN"
"0000064322" "TTN"
"0000064325" "TTN"
"0000064334" "TTN"
"0000064345" "TTN"
"0000064349" "TTN"
"0000064399" "DSC2"
"0000210107" "DSC2"
"0000210108" "DSC2"
"0000210109" "DSC2"
"0000210110" "DSC2"
"0000210111" "DSC2"
"0000210112" "DSC2"
"0000210113" "DSC2"
"0000210114" "DSC2"
"0000210115" "DSC2"
"0000210116" "DSC2"
"0000210117" "DSC2"
"0000210118" "DSC2"
"0000210119" "DSC2"
"0000210120" "DSC2"
"0000210121" "DSC2"
"0000210122" "DSC2"
"0000210123" "DSC2"
"0000210124" "DSC2"
"0000210125" "DSC2"
"0000210126" "DSC2"
"0000210127" "DSC2"
"0000210128" "DSC2"
"0000210129" "DSC2"
"0000210130" "DSC2"
"0000210131" "DSC2"
"0000210132" "DSC2"
"0000210133" "DSC2"
"0000210134" "DSC2"
"0000210135" "DSC2"
"0000210136" "DSC2"
"0000210137" "DSC2"
"0000210138" "DSC2"
"0000210139" "DSC2"
"0000210140" "DSC2"
"0000210141" "DSC2"
"0000210142" "DSC2"
"0000210143" "DSC2"
"0000210143" "JUP"
"0000210144" "DSC2"
"0000210145" "DSC2"
"0000210146" "DSC2"
"0000210147" "DSC2"
"0000210148" "DSC2"
"0000210149" "DSC2"
"0000210150" "DSC2"
"0000210151" "DSC2"
"0000210152" "DSC2"
"0000210153" "DSC2"
"0000210154" "DSC2"
"0000210155" "DSC2"
"0000210156" "DSC2"
"0000210157" "DSC2"
"0000210158" "DSC2"
"0000210159" "DSC2"
"0000210160" "DSC2"
"0000210161" "DSC2"
"0000210162" "DSC2"
"0000210163" "DSC2"
"0000210164" "DSC2"
"0000210165" "DSC2"
"0000210166" "DSC2"
"0000210167" "DSC2"
"0000210168" "DSC2"
"0000210169" "DSC2"
"0000210170" "DSC2"
"0000210171" "DSC2"
"0000210172" "DSC2"
"0000210173" "DSC2"
"0000210174" "DSC2"
"0000210175" "DSC2"
"0000210176" "DSC2"
"0000210177" "DSC2"
"0000210178" "DSC2"
"0000210179" "DSC2"
"0000210180" "DSC2"
"0000210181" "DSC2"
"0000210182" "DSC2"
"0000210183" "DSC2"
"0000210184" "DSC2"
"0000210185" "DSC2"
"0000210186" "DSC2"
"0000210187" "DSC2"
"0000210188" "DSC2"
"0000210189" "DSC2"
"0000210190" "DSC2"
"0000210191" "DSC2"
"0000210192" "DSC2"
"0000210193" "DSC2"
"0000210194" "DSC2"
"0000210195" "DSC2"
"0000210196" "DSC2"
"0000210197" "DSC2"
"0000210198" "DSC2"
"0000210199" "DSC2"
"0000210200" "DSC2"
"0000210201" "DSC2"
"0000210202" "DSC2"
"0000210203" "DSC2"
"0000210204" "DSC2"
"0000210205" "DSC2"
"0000210206" "DSC2"
"0000210207" "DSC2"
"0000210208" "DSC2"
"0000210209" "DSC2"
"0000210210" "DSC2"
"0000210211" "DSC2"
"0000210212" "DSC2"
"0000306481" "DSC2"
"0000306482" "DSC2"
"0000306483" "DSC2"
"0000306484" "DSC2"
"0000309899" "DSC2"
"0000311013" "DSC2"
"0000318007" "DSC2"
"0000318141" "DSC2"
"0000318142" "DSC2"
"0000318143" "DSC2"
"0000318144" "DSC2"
"0000318145" "DSC2"
"0000318146" "DSC2"
"0000318147" "DSC2"
"0000318148" "DSC2"
"0000318911" "DSC2"
"0000321474" "ABCC9"
"0000321474" "APOB"
"0000321474" "DSC2"
"0000321474" "PKP2"
## 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 = 495
"{{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}}"
"0000036013" "1" "55" "18" "28666679" "28666679" "subst" "0.000154455" "00668" "DSC2_000122" "g.28666679T>C" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.31086716T>C" "" "VUS" ""
"0000095230" "0" "50" "18" "28650748" "28650748" "subst" "0.00117044" "00006" "DSC2_000021" "g.28650748A>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.T2194G" "" "Germline" "" "" "0" "" "" "g.31070782A>C" "" "VUS" ""
"0000095271" "0" "50" "18" "28648001" "28648002" "ins" "0" "00006" "DSC2_000123" "g.28648001_28648002insCT" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024422:c.2685_2686insAG (A895fs)" "" "Germline" "" "" "0" "" "" "g.31068035_31068036insCT" "" "VUS" ""
"0000095273" "0" "50" "18" "28650748" "28650748" "subst" "0.00117044" "00006" "DSC2_000021" "g.28650748A>C" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.T2194G" "" "Germline" "" "" "0" "" "" "g.31070782A>C" "" "VUS" ""
"0000095351" "0" "50" "18" "28648001" "28648002" "ins" "0" "00006" "DSC2_000123" "g.28648001_28648002insCT" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024422:c.2685_2686insAG (A895fs)" "" "Germline" "" "" "0" "" "" "g.31068035_31068036insCT" "" "VUS" ""
"0000095449" "0" "50" "18" "28649081" "28649081" "subst" "0.0000325478" "00006" "DSC2_000124" "g.28649081C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.G2287A" "" "Germline" "" "" "0" "" "" "g.31069115C>T" "" "VUS" ""
"0000095477" "0" "50" "18" "28672114" "28672114" "subst" "0.000752908" "00006" "DSC2_000003" "g.28672114C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.G304A" "" "Germline" "" "" "0" "" "" "g.31092151C>T" "" "VUS" ""
"0000095485" "0" "50" "18" "28672114" "28672114" "subst" "0.000752908" "00006" "DSC2_000003" "g.28672114C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.G304A" "" "Germline" "" "" "0" "" "" "g.31092151C>T" "" "VUS" ""
"0000095549" "0" "50" "18" "28660323" "28660323" "subst" "0.000637094" "00006" "DSC2_000118" "g.28660323G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.1264-5C>T" "" "Germline" "" "" "0" "" "" "g.31080357G>A" "" "VUS" ""
"0000095616" "0" "50" "18" "28648001" "28648002" "ins" "0" "00006" "DSC2_000123" "g.28648001_28648002insCT" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024422:c.2685_2686insAG (A895fs)" "" "Germline" "" "" "0" "" "" "g.31068035_31068036insCT" "" "VUS" ""
"0000095623" "0" "50" "18" "28648001" "28648002" "ins" "0" "00006" "DSC2_000123" "g.28648001_28648002insCT" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024422:c.2685_2686insAG (A895fs)" "" "Germline" "" "" "0" "" "" "g.31068035_31068036insCT" "" "VUS" ""
"0000095633" "0" "50" "18" "28672152" "28672152" "subst" "0.0000854805" "00006" "DSC2_000070" "g.28672152G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.C266T" "" "Germline" "" "" "0" "" "" "g.31092189G>A" "" "VUS" ""
"0000095661" "0" "50" "18" "28648001" "28648002" "ins" "0" "00006" "DSC2_000123" "g.28648001_28648002insCT" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_024422:c.2685_2686insAG (A895fs)" "" "Germline" "" "" "0" "" "" "g.31068035_31068036insCT" "" "VUS" ""
"0000095699" "0" "50" "18" "28654750" "28654750" "subst" "0.00122439" "00006" "DSC2_000044" "g.28654750G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.C1787T" "" "Germline" "" "" "0" "" "" "g.31074784G>A" "" "VUS" ""
"0000095714" "0" "50" "18" "28666624" "28666624" "subst" "0.0000934496" "00006" "DSC2_000119" "g.28666624C>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.G857T (G299+G31V)" "" "Germline" "" "" "0" "" "" "g.31086661C>A" "" "VUS" ""
"0000095791" "1" "50" "18" "28660323" "28660323" "subst" "0.000637094" "00006" "DSC2_000118" "g.28660323G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_004949:c.1264-5C>T" "" "Germline" "" "" "0" "" "" "g.31080357G>A" "" "VUS" ""
"0000218482" "0" "50" "18" "28660187" "28660187" "subst" "0" "02244" "DSC2_000125" "g.28660187C>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31080221C>G" "" "VUS" ""
"0000247499" "0" "10" "18" "28651592" "28651592" "subst" "0.0000243986" "02330" "DSC2_000133" "g.28651592A>G" "" "" "" "DSC2(NM_004949.3):c.2104T>C (p.L702=), DSC2(NM_024422.4):c.2104T>C (p.L702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071626A>G" "" "benign" ""
"0000247505" "0" "10" "18" "28673624" "28673624" "del" "0" "02330" "DSC2_000176" "g.28673624del" "" "" "" "DSC2(NM_004949.3):c.70-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093661del" "" "benign" ""
"0000247520" "0" "10" "18" "28669405" "28669405" "subst" "0.0000162504" "02330" "DSC2_000046" "g.28669405A>G" "" "" "" "DSC2(NM_004949.3):c.627T>C (p.F209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31089442A>G" "" "benign" ""
"0000247537" "0" "30" "18" "28672246" "28672246" "subst" "0.000118105" "02330" "DSC2_000068" "g.28672246A>C" "" "" "" "DSC2(NM_004949.3):c.172T>G (p.F58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092283A>C" "" "likely benign" ""
"0000247541" "0" "50" "18" "28666627" "28666627" "subst" "0.000146271" "02330" "DSC2_000178" "g.28666627A>G" "" "" "" "DSC2(NM_004949.3):c.854T>C (p.I285T), DSC2(NM_024422.4):c.854T>C (p.I285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086664A>G" "" "VUS" ""
"0000250988" "0" "10" "18" "28673624" "28673624" "del" "0" "02326" "DSC2_000176" "g.28673624del" "" "" "" "DSC2(NM_004949.3):c.70-11delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093661del" "" "benign" ""
"0000252305" "0" "30" "18" "28654593" "28654593" "del" "0" "02326" "DSC2_000137" "g.28654593del" "" "" "" "DSC2(NM_004949.3):c.1888+67delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31074627del" "" "likely benign" ""
"0000252306" "0" "30" "18" "28671390" "28671390" "del" "0" "02326" "DSC2_000171" "g.28671390del" "" "" "" "DSC2(NM_004949.3):c.355-272delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091427del" "" "likely benign" ""
"0000254147" "0" "30" "18" "28651592" "28651592" "subst" "0.0000243986" "01943" "DSC2_000133" "g.28651592A>G" "" "" "" "DSC2(NM_004949.3):c.2104T>C (p.L702=), DSC2(NM_024422.4):c.2104T>C (p.L702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071626A>G" "" "likely benign" ""
"0000255156" "0" "30" "18" "28669444" "28669444" "subst" "0" "01943" "DSC2_000165" "g.28669444A>G" "" "" "" "DSC2(NM_004949.3):c.588T>C (p.Y196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31089481A>G" "" "likely benign" ""
"0000265451" "0" "10" "18" "28662896" "28662896" "subst" "0.00135889" "02330" "DSC2_000014" "g.28662896G>A" "" "" "" "DSC2(NM_004949.3):c.1073C>T (p.T358I), DSC2(NM_024422.4):c.1073C>T (p.T358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31082930G>A" "" "benign" ""
"0000265452" "0" "10" "18" "28673565" "28673565" "subst" "0.114547" "02330" "DSC2_000002" "g.28673565T>C" "" "" "" "DSC2(NM_004949.3):c.111A>G (p.L37=), DSC2(NM_024422.4):c.111A>G (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093602T>C" "" "benign" ""
"0000265453" "0" "10" "18" "28660323" "28660323" "subst" "0.000637094" "02330" "DSC2_000118" "g.28660323G>A" "" "" "" "DSC2(NM_004949.3):c.1264-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080357G>A" "" "benign" ""
"0000265454" "0" "10" "18" "28660232" "28660232" "subst" "0.00310412" "02330" "DSC2_000096" "g.28660232T>C" "" "" "" "DSC2(NM_004949.3):c.1350A>G (p.R450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080266T>C" "" "benign" ""
"0000265455" "0" "50" "18" "28673540" "28673540" "subst" "0.000097515" "02330" "DSC2_000067" "g.28673540C>T" "" "" "" "DSC2(NM_004949.3):c.136G>A (p.E46K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093577C>T" "" "VUS" ""
"0000265456" "0" "10" "18" "28660054" "28660054" "subst" "0.0000773225" "02330" "DSC2_000143" "g.28660054G>C" "" "" "" "DSC2(NM_004949.3):c.1520+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080088G>C" "" "benign" ""
"0000265457" "0" "10" "18" "28659962" "28659962" "subst" "0.000122081" "02330" "DSC2_000142" "g.28659962G>A" "" "" "" "DSC2(NM_004949.3):c.1521-7C>T, DSC2(NM_024422.4):c.1521-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31079996G>A" "" "benign" ""
"0000265458" "0" "30" "18" "28673523" "28673523" "subst" "0.0000162545" "02330" "DSC2_000174" "g.28673523T>C" "" "" "" "DSC2(NM_004949.3):c.153A>G (p.R51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093560T>C" "" "likely benign" ""
"0000265459" "0" "10" "18" "28659928" "28659928" "subst" "0" "02330" "DSC2_000141" "g.28659928C>A" "" "" "" "DSC2(NM_004949.3):c.1548G>T (p.G516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31079962C>A" "" "benign" ""
"0000265460" "0" "50" "18" "28654808" "28654808" "subst" "0.000272508" "02330" "DSC2_000038" "g.28654808T>C" "" "" "" "DSC2(NM_004949.3):c.1729A>G (p.I577V), DSC2(NM_024422.4):c.1729A>G (p.I577V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31074842T>C" "" "VUS" ""
"0000265461" "0" "30" "18" "28654778" "28654778" "subst" "0.00000813557" "02330" "DSC2_000139" "g.28654778G>T" "" "" "" "DSC2(NM_004949.3):c.1759C>A (p.P587T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31074812G>T" "" "likely benign" ""
"0000265462" "0" "10" "18" "28651795" "28651795" "subst" "0.000595894" "02330" "DSC2_000136" "g.28651795C>T" "" "" "" "DSC2(NM_004949.3):c.1901G>A (p.R634H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071829C>T" "" "benign" ""
"0000265463" "0" "50" "18" "28650713" "28650713" "subst" "0.00000406392" "02330" "DSC2_000191" "g.28650713T>G" "" "" "" "DSC2(NM_004949.3):c.2229A>C (p.E743D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31070747T>G" "" "VUS" ""
"0000265464" "0" "10" "18" "28650680" "28650680" "subst" "0.0000609826" "02330" "DSC2_000189" "g.28650680C>A" "" "" "" "DSC2(NM_004949.3):c.2250+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31070714C>A" "" "benign" ""
"0000265465" "0" "50" "18" "28649070" "28649070" "subst" "0.0000488178" "02330" "DSC2_000187" "g.28649070C>G" "" "" "" "DSC2(NM_004949.3):c.2298G>C (p.Q766H), DSC2(NM_024422.4):c.2298G>C (p.Q766H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069104C>G" "" "VUS" ""
"0000265466" "0" "30" "18" "28649061" "28649066" "del" "0" "02330" "DSC2_000186" "g.28649061_28649066del" "" "" "" "DSC2(NM_004949.3):c.2303_2308delTTTGTG (p.V768_C769del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069095_31069100del" "" "likely benign" ""
"0000265467" "0" "10" "18" "28649042" "28649042" "subst" "0.114844" "02330" "DSC2_000024" "g.28649042T>C" "" "" "" "DSC2(NM_004949.3):c.2326A>G (p.I776V), DSC2(NM_024422.4):c.2326A>G (p.I776V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069076T>C" "" "benign" ""
"0000265468" "0" "10" "18" "28649002" "28649004" "del" "0" "02330" "DSC2_000050" "g.28649002_28649004del" "" "" "" "DSC2(NM_004949.3):c.2368_2370delGGA (p.G790del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069036_31069038del" "" "benign" ""
"0000265469" "0" "10" "18" "28648975" "28648975" "subst" "0.0481471" "02330" "DSC2_000029" "g.28648975C>T" "" "" "" "DSC2(NM_004949.3):c.2393G>A (p.R798Q), DSC2(NM_024422.4):c.2393G>A (p.R798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069009C>T" "" "benign" ""
"0000265470" "0" "30" "18" "28648870" "28648870" "subst" "0.000138617" "02330" "DSC2_000109" "g.28648870C>T" "" "" "" "DSC2(NM_004949.3):c.2498G>A (p.R833H), DSC2(NM_024422.4):c.2498G>A (p.R833H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068904C>T" "" "likely benign" ""
"0000265471" "0" "10" "18" "28648330" "28648331" "del" "0.000150681" "02330" "DSC2_000183" "g.28648330_28648331del" "" "" "" "DSC2(NM_004949.3):c.2509-21_2509-20delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068364_31068365del" "" "benign" ""
"0000265472" "0" "50" "18" "28648100" "28648100" "subst" "0.000276553" "02330" "DSC2_000181" "g.28648100C>T" "" "" "" "DSC2(NM_024422.4):c.2587G>A (p.G863R), DSC2(NM_024422.5):c.2587G>A (p.G863R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068134C>T" "" "VUS" ""
"0000265473" "0" "50" "18" "28648096" "28648096" "subst" "0.0000244129" "02330" "DSC2_000180" "g.28648096G>A" "" "" "" "DSC2(NM_024422.5):c.2591C>T (p.S864L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068130G>A" "" "VUS" ""
"0000265474" "0" "10" "18" "28648071" "28648071" "subst" "0.00050801" "02330" "DSC2_000179" "g.28648071G>A" "" "" "" "DSC2(NM_024422.5):c.2616C>T (p.C872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068105G>A" "" "benign" ""
"0000265475" "0" "30" "18" "28648031" "28648034" "del" "0" "02330" "DSC2_000130" "g.28648031_28648034del" "" "" "" "DSC2(NM_024422.5):c.2653_2656delGATA (p.D885Ifs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068065_31068068del" "" "likely benign" ""
"0000265476" "0" "50" "18" "28672152" "28672152" "subst" "0.0000854805" "02330" "DSC2_000070" "g.28672152G>A" "" "" "" "DSC2(NM_004949.3):c.266C>T (p.S89L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092189G>A" "" "VUS" ""
"0000265478" "0" "10" "18" "28672148" "28672148" "subst" "0.000500627" "02330" "DSC2_000173" "g.28672148C>T" "" "" "" "DSC2(NM_004949.3):c.270G>A (p.E90=), DSC2(NM_024422.4):c.270G>A (p.E90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092185C>T" "" "benign" ""
"0000265479" "0" "50" "18" "28672132" "28672132" "subst" "0.0000203555" "02330" "DSC2_000172" "g.28672132T>C" "" "" "" "DSC2(NM_004949.3):c.286A>G (p.I96V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092169T>C" "" "VUS" ""
"0000265480" "0" "50" "18" "28672091" "28672091" "subst" "0.0000366393" "02330" "DSC2_000073" "g.28672091T>C" "" "" "" "DSC2(NM_004949.3):c.327A>G (p.I109M), DSC2(NM_024422.4):c.327A>G (p.I109M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092128T>C" "" "VUS" ""
"0000265481" "0" "10" "18" "28681903" "28681903" "subst" "0.0136759" "02330" "DSC2_000001" "g.28681903T>C" "" "" "" "DSC2(NM_004949.3):c.32A>G (p.N11S, p.(Asn11Ser)), DSC2(NM_024422.4):c.32A>G (p.N11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101940T>C" "" "benign" ""
"0000265482" "0" "10" "18" "28672070" "28672070" "subst" "0.000280892" "02330" "DSC2_000140" "g.28672070T>C" "" "" "" "DSC2(NM_004949.3):c.348A>G (p.Q116=), DSC2(NM_024422.4):c.348A>G (p.Q116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092107T>C" "" "benign" ""
"0000265483" "0" "10" "18" "28672067" "28672067" "subst" "0.00841612" "02330" "DSC2_000004" "g.28672067T>C" "" "" "" "DSC2(NM_004949.3):c.351A>G (p.T117=), DSC2(NM_024422.4):c.351A>G (p.T117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092104T>C" "" "benign" ""
"0000265484" "0" "50" "18" "28671057" "28671057" "subst" "0.0000406402" "02330" "DSC2_000168" "g.28671057T>C" "" "" "" "DSC2(NM_004949.3):c.408A>G (p.R136=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091094T>C" "" "VUS" ""
"0000265486" "0" "50" "18" "28666706" "28666706" "subst" "0" "02330" "DSC2_000163" "g.28666706C>T" "" "" "" "DSC2(NM_004949.3):c.776-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086743C>T" "" "VUS" ""
"0000265487" "0" "50" "18" "28673594" "28673594" "subst" "0.0000163381" "02330" "DSC2_000175" "g.28673594C>A" "" "" "" "DSC2(NM_004949.3):c.82G>T (p.A28S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093631C>A" "" "VUS" ""
"0000265488" "0" "50" "18" "28666616" "28666616" "subst" "0.0000284359" "02330" "DSC2_000009" "g.28666616G>A" "" "" "" "DSC2(NM_004949.3):c.865C>T (p.P289S), DSC2(NM_024422.4):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086653G>A" "" "VUS" ""
"0000265489" "0" "10" "18" "28666611" "28666611" "subst" "0.000024371" "02330" "DSC2_000161" "g.28666611T>C" "" "" "" "DSC2(NM_004949.3):c.870A>G (p.P290=), DSC2(NM_024422.4):c.870A>G (p.P290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086648T>C" "" "benign" ""
"0000265490" "0" "50" "18" "28666583" "28666583" "subst" "0.0000162462" "02330" "DSC2_000160" "g.28666583T>C" "" "" "" "DSC2(NM_004949.3):c.898A>G (p.T300A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086620T>C" "" "VUS" ""
"0000265491" "0" "50" "18" "28666580" "28666580" "subst" "0.0000568625" "02330" "DSC2_000159" "g.28666580T>C" "" "" "" "DSC2(NM_004949.3):c.901A>G (p.T301A), DSC2(NM_024422.4):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086617T>C" "" "VUS" ""
"0000265492" "0" "10" "18" "28666574" "28666574" "subst" "0.0010967" "02330" "DSC2_000088" "g.28666574C>T" "" "" "" "DSC2(NM_004949.3):c.907G>A (p.V303M), DSC2(NM_024422.4):c.907G>A (p.V303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086611C>T" "" "benign" ""
"0000265493" "0" "10" "18" "28666527" "28666528" "ins" "0" "02330" "DSC2_000154" "g.28666527_28666528insAAT" "" "" "" "DSC2(NM_004949.3):c.942+11delCinsCATT, DSC2(NM_004949.3):c.942+12_942+13insTTA, DSC2(NM_024422.4):c.942+12_942+13insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086560_31086562dup" "" "benign" ""
"0000265495" "0" "50" "18" "28663010" "28663010" "subst" "0" "02330" "DSC2_000151" "g.28663010T>G" "" "" "" "DSC2(NM_004949.3):c.959A>C (p.Q320P), DSC2(NM_024422.5):c.959A>C (p.Q320P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31083044T>G" "" "VUS" ""
"0000267523" "0" "10" "18" "28673565" "28673565" "subst" "0.114547" "02325" "DSC2_000002" "g.28673565T>C" "" "" "" "DSC2(NM_004949.3):c.111A>G (p.L37=), DSC2(NM_024422.4):c.111A>G (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093602T>C" "" "benign" ""
"0000267524" "0" "50" "18" "28660261" "28660261" "subst" "0" "02325" "DSC2_000148" "g.28660261C>T" "" "" "" "DSC2(NM_004949.3):c.1321G>A (p.A441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080295C>T" "" "VUS" ""
"0000267525" "0" "50" "18" "28660242" "28660242" "subst" "0" "02325" "DSC2_000147" "g.28660242G>T" "" "" "" "DSC2(NM_004949.3):c.1340C>A (p.A447D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080276G>T" "" "VUS" ""
"0000267526" "0" "30" "18" "28660232" "28660232" "subst" "0.00310412" "02325" "DSC2_000096" "g.28660232T>C" "" "" "" "DSC2(NM_004949.3):c.1350A>G (p.R450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080266T>C" "" "likely benign" ""
"0000267527" "0" "30" "18" "28660211" "28660211" "subst" "0" "02325" "DSC2_000145" "g.28660211T>C" "" "" "" "DSC2(NM_004949.3):c.1371A>G (p.T457=), DSC2(NM_024422.4):c.1371A>G (p.T457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080245T>C" "" "likely benign" ""
"0000267528" "0" "70" "18" "28651570" "28651570" "del" "0" "02325" "DSC2_000132" "g.28651570del" "" "" "" "DSC2(NM_004949.3):c.2125+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071604del" "" "likely pathogenic" ""
"0000267529" "0" "70" "18" "28651568" "28651568" "del" "0" "02325" "DSC2_000131" "g.28651568del" "" "" "" "DSC2(NM_004949.3):c.2125+4delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071602del" "" "likely pathogenic" ""
"0000267530" "0" "50" "18" "28650816" "28650816" "subst" "0" "02325" "DSC2_000192" "g.28650816C>G" "" "" "" "DSC2(NM_004949.3):c.2126G>C (p.C709S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31070850C>G" "" "VUS" ""
"0000267531" "0" "30" "18" "28649109" "28649109" "subst" "0.0000325932" "02325" "DSC2_000188" "g.28649109C>T" "" "" "" "DSC2(NM_004949.3):c.2259G>A (p.A753=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069143C>T" "" "likely benign" ""
"0000267532" "0" "10" "18" "28649042" "28649042" "subst" "0.114844" "02325" "DSC2_000024" "g.28649042T>C" "" "" "" "DSC2(NM_004949.3):c.2326A>G (p.I776V), DSC2(NM_024422.4):c.2326A>G (p.I776V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069076T>C" "" "benign" ""
"0000267533" "0" "50" "18" "28649040" "28649040" "subst" "0.0000122009" "02325" "DSC2_000025" "g.28649040G>C" "" "" "" "DSC2(NM_004949.3):c.2328C>G (p.I776M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069074G>C" "" "VUS" ""
"0000267534" "0" "10" "18" "28648975" "28648975" "subst" "0.0481471" "02325" "DSC2_000029" "g.28648975C>T" "" "" "" "DSC2(NM_004949.3):c.2393G>A (p.R798Q), DSC2(NM_024422.4):c.2393G>A (p.R798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069009C>T" "" "benign" ""
"0000267535" "0" "30" "18" "28648071" "28648071" "subst" "0.00050801" "02325" "DSC2_000179" "g.28648071G>A" "" "" "" "DSC2(NM_024422.5):c.2616C>T (p.C872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068105G>A" "" "likely benign" ""
"0000267536" "0" "30" "18" "28648001" "28648002" "dup" "0" "02325" "DSC2_000127" "g.28648001_28648002dup" "" "" "" "DSC2(NM_024422.4):c.2686_2687dupGA (p.A897Kfs*4), DSC2(NM_024422.5):c.2684delCinsCAG (p.A897Kfs*4), DSC2(NM_024422.5):c.2686_2687dupGA (p.A897Kfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068035_31068036dup" "" "likely benign" ""
"0000267539" "0" "30" "18" "28672148" "28672148" "subst" "0.000500627" "02325" "DSC2_000173" "g.28672148C>T" "" "" "" "DSC2(NM_004949.3):c.270G>A (p.E90=), DSC2(NM_024422.4):c.270G>A (p.E90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092185C>T" "" "likely benign" ""
"0000267540" "0" "30" "18" "28672114" "28672114" "subst" "0.000752908" "02325" "DSC2_000003" "g.28672114C>T" "" "" "" "DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092151C>T" "" "likely benign" ""
"0000267541" "0" "10" "18" "28681903" "28681903" "subst" "0.0136759" "02325" "DSC2_000001" "g.28681903T>C" "" "" "" "DSC2(NM_004949.3):c.32A>G (p.N11S, p.(Asn11Ser)), DSC2(NM_024422.4):c.32A>G (p.N11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101940T>C" "" "benign" ""
"0000267542" "0" "10" "18" "28672067" "28672067" "subst" "0.00841612" "02325" "DSC2_000004" "g.28672067T>C" "" "" "" "DSC2(NM_004949.3):c.351A>G (p.T117=), DSC2(NM_024422.4):c.351A>G (p.T117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092104T>C" "" "benign" ""
"0000267543" "0" "30" "18" "28671128" "28671128" "subst" "0.00000408941" "02325" "DSC2_000170" "g.28671128G>A" "" "" "" "DSC2(NM_004949.3):c.355-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091165G>A" "" "likely benign" ""
"0000267544" "0" "50" "18" "28671071" "28671071" "subst" "0.0000365946" "02325" "DSC2_000075" "g.28671071G>A" "" "" "" "DSC2(NM_004949.3):c.394C>T (p.R132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091108G>A" "" "VUS" ""
"0000267545" "0" "30" "18" "28671068" "28671068" "subst" "0.000060994" "02325" "DSC2_000169" "g.28671068C>T" "" "" "" "DSC2(NM_004949.3):c.397G>A (p.A133T), DSC2(NM_024422.4):c.397G>A (p.A133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091105C>T" "" "likely benign" ""
"0000267546" "0" "30" "18" "28670976" "28670976" "subst" "0" "02325" "DSC2_000167" "g.28670976G>A" "" "" "" "DSC2(NM_004949.3):c.474+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31091013G>A" "" "likely benign" ""
"0000267548" "0" "50" "18" "28666616" "28666616" "subst" "0.0000284359" "02325" "DSC2_000009" "g.28666616G>A" "" "" "" "DSC2(NM_004949.3):c.865C>T (p.P289S), DSC2(NM_024422.4):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086653G>A" "" "VUS" ""
"0000267549" "0" "10" "18" "28666527" "28666528" "ins" "0" "02325" "DSC2_000154" "g.28666527_28666528insAAT" "" "" "" "DSC2(NM_004949.3):c.942+11delCinsCATT, DSC2(NM_004949.3):c.942+12_942+13insTTA, DSC2(NM_024422.4):c.942+12_942+13insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086560_31086562dup" "" "benign" ""
"0000270893" "0" "30" "18" "28662896" "28662896" "subst" "0.00135889" "02326" "DSC2_000014" "g.28662896G>A" "" "" "" "DSC2(NM_004949.3):c.1073C>T (p.T358I), DSC2(NM_024422.4):c.1073C>T (p.T358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31082930G>A" "" "likely benign" ""
"0000270894" "0" "10" "18" "28673565" "28673565" "subst" "0.114547" "02326" "DSC2_000002" "g.28673565T>C" "" "" "" "DSC2(NM_004949.3):c.111A>G (p.L37=), DSC2(NM_024422.4):c.111A>G (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093602T>C" "" "benign" ""
"0000270895" "0" "30" "18" "28660232" "28660232" "subst" "0.00310412" "02326" "DSC2_000096" "g.28660232T>C" "" "" "" "DSC2(NM_004949.3):c.1350A>G (p.R450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080266T>C" "" "likely benign" ""
"0000270896" "0" "30" "18" "28660082" "28660082" "subst" "0" "02326" "DSC2_000144" "g.28660082T>C" "" "" "" "DSC2(NM_004949.3):c.1500A>G (p.T500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080116T>C" "" "likely benign" ""
"0000270897" "0" "50" "18" "28651658" "28651658" "subst" "0.00000814021" "02326" "DSC2_000134" "g.28651658G>T" "" "" "" "DSC2(NM_004949.3):c.2038C>A (p.R680S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071692G>T" "" "VUS" ""
"0000270898" "0" "70" "18" "28651570" "28651570" "del" "0" "02326" "DSC2_000132" "g.28651570del" "" "" "" "DSC2(NM_004949.3):c.2125+1delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071604del" "" "likely pathogenic" ""
"0000270899" "0" "10" "18" "28649144" "28649144" "subst" "0.0140857" "02326" "DSC2_000039" "g.28649144G>T" "" "" "" "DSC2(NM_004949.3):c.2251-27C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069178G>T" "" "benign" ""
"0000270900" "0" "10" "18" "28649042" "28649042" "subst" "0.114844" "02326" "DSC2_000024" "g.28649042T>C" "" "" "" "DSC2(NM_004949.3):c.2326A>G (p.I776V), DSC2(NM_024422.4):c.2326A>G (p.I776V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069076T>C" "" "benign" ""
"0000270901" "0" "30" "18" "28649002" "28649004" "del" "0" "02326" "DSC2_000050" "g.28649002_28649004del" "" "" "" "DSC2(NM_004949.3):c.2368_2370delGGA (p.G790del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069036_31069038del" "" "likely benign" ""
"0000270902" "0" "10" "18" "28648975" "28648975" "subst" "0.0481471" "02326" "DSC2_000029" "g.28648975C>T" "" "" "" "DSC2(NM_004949.3):c.2393G>A (p.R798Q), DSC2(NM_024422.4):c.2393G>A (p.R798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069009C>T" "" "benign" ""
"0000270903" "0" "50" "18" "28648017" "28648017" "subst" "0" "02326" "DSC2_000128" "g.28648017T>G" "" "" "" "DSC2(NM_024422.5):c.2670A>C (p.K890N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068051T>G" "" "VUS" ""
"0000270904" "0" "70" "18" "28648017" "28648017" "subst" "0" "02326" "DSC2_000129" "g.28648017T>A" "" "" "" "DSC2(NM_024422.5):c.2670A>T (p.K890N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068051T>A" "" "likely pathogenic" ""
"0000270906" "0" "30" "18" "28672148" "28672148" "subst" "0.000500627" "02326" "DSC2_000173" "g.28672148C>T" "" "" "" "DSC2(NM_004949.3):c.270G>A (p.E90=), DSC2(NM_024422.4):c.270G>A (p.E90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092185C>T" "" "likely benign" ""
"0000270907" "0" "30" "18" "28672114" "28672114" "subst" "0.000752908" "02326" "DSC2_000003" "g.28672114C>T" "" "" "" "DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092151C>T" "" "likely benign" ""
"0000270908" "0" "10" "18" "28681903" "28681903" "subst" "0.0136759" "02326" "DSC2_000001" "g.28681903T>C" "" "" "" "DSC2(NM_004949.3):c.32A>G (p.N11S, p.(Asn11Ser)), DSC2(NM_024422.4):c.32A>G (p.N11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101940T>C" "" "benign" ""
"0000270909" "0" "30" "18" "28672067" "28672067" "subst" "0.00841612" "02326" "DSC2_000004" "g.28672067T>C" "" "" "" "DSC2(NM_004949.3):c.351A>G (p.T117=), DSC2(NM_024422.4):c.351A>G (p.T117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092104T>C" "" "likely benign" ""
"0000270910" "0" "70" "18" "28669445" "28669445" "subst" "0" "02326" "DSC2_000166" "g.28669445T>C" "" "" "" "DSC2(NM_004949.3):c.587A>G (p.Y196C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31089482T>C" "" "likely pathogenic" ""
"0000270911" "0" "50" "18" "28666616" "28666616" "subst" "0.0000284359" "02326" "DSC2_000009" "g.28666616G>A" "" "" "" "DSC2(NM_004949.3):c.865C>T (p.P289S), DSC2(NM_024422.4):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086653G>A" "" "VUS" ""
"0000270912" "0" "30" "18" "28666574" "28666574" "subst" "0.0010967" "02326" "DSC2_000088" "g.28666574C>T" "" "" "" "DSC2(NM_004949.3):c.907G>A (p.V303M), DSC2(NM_024422.4):c.907G>A (p.V303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086611C>T" "" "likely benign" ""
"0000270914" "0" "10" "18" "28666528" "28666528" "subst" "0" "02326" "DSC2_000156" "g.28666528G>A" "" "" "" "DSC2(NM_004949.3):c.942+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086565G>A" "" "benign" ""
"0000270916" "0" "30" "18" "28666526" "28666526" "subst" "0" "02326" "DSC2_000153" "g.28666526T>A" "" "" "" "DSC2(NM_004949.3):c.942+16A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086563=" "" "likely benign" ""
"0000275530" "0" "30" "18" "28662896" "28662896" "subst" "0.00135889" "01943" "DSC2_000014" "g.28662896G>A" "" "" "" "DSC2(NM_004949.3):c.1073C>T (p.T358I), DSC2(NM_024422.4):c.1073C>T (p.T358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31082930G>A" "" "likely benign" ""
"0000275531" "0" "10" "18" "28673565" "28673565" "subst" "0.114547" "01943" "DSC2_000002" "g.28673565T>C" "" "" "" "DSC2(NM_004949.3):c.111A>G (p.L37=), DSC2(NM_024422.4):c.111A>G (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31093602T>C" "" "benign" ""
"0000275532" "0" "50" "18" "28662236" "28662236" "subst" "0.0000447431" "01943" "DSC2_000149" "g.28662236T>C" "" "" "" "DSC2(NM_024422.4):c.1231A>G (p.K411E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31082270T>C" "" "VUS" ""
"0000275533" "0" "10" "18" "28660323" "28660323" "subst" "0.000637094" "01943" "DSC2_000118" "g.28660323G>A" "" "" "" "DSC2(NM_004949.3):c.1264-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080357G>A" "" "benign" ""
"0000275534" "0" "30" "18" "28660232" "28660232" "subst" "0.00310412" "01943" "DSC2_000096" "g.28660232T>C" "" "" "" "DSC2(NM_004949.3):c.1350A>G (p.R450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080266T>C" "" "likely benign" ""
"0000275535" "0" "30" "18" "28660211" "28660211" "subst" "0" "01943" "DSC2_000145" "g.28660211T>C" "" "" "" "DSC2(NM_004949.3):c.1371A>G (p.T457=), DSC2(NM_024422.4):c.1371A>G (p.T457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31080245T>C" "" "likely benign" ""
"0000275536" "0" "30" "18" "28659962" "28659962" "subst" "0.000122081" "01943" "DSC2_000142" "g.28659962G>A" "" "" "" "DSC2(NM_004949.3):c.1521-7C>T, DSC2(NM_024422.4):c.1521-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31079996G>A" "" "likely benign" ""
"0000275537" "0" "30" "18" "28654748" "28654748" "subst" "0.000166743" "01943" "DSC2_000138" "g.28654748C>A" "" "" "" "DSC2(NM_004949.3):c.1789G>T (p.V597F), DSC2(NM_024422.4):c.1789G>T (p.V597F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31074782C>A" "" "likely benign" ""
"0000275538" "0" "30" "18" "28651795" "28651795" "subst" "0.000595894" "01943" "DSC2_000136" "g.28651795C>T" "" "" "" "DSC2(NM_004949.3):c.1901G>A (p.R634H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071829C>T" "" "likely benign" ""
"0000275539" "0" "30" "18" "28651707" "28651707" "subst" "0" "01943" "DSC2_000135" "g.28651707T>G" "" "" "" "DSC2(NM_024422.4):c.1989A>C (p.S663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31071741T>G" "" "likely benign" ""
"0000275540" "0" "50" "18" "28650697" "28650697" "subst" "0.0000203217" "01943" "DSC2_000190" "g.28650697T>G" "" "" "" "DSC2(NM_004949.3):c.2245A>C (p.K749Q), DSC2(NM_024422.4):c.2245A>C (p.K749Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31070731T>G" "" "VUS" ""
"0000275541" "0" "10" "18" "28649042" "28649042" "subst" "0.114844" "01943" "DSC2_000024" "g.28649042T>C" "" "" "" "DSC2(NM_004949.3):c.2326A>G (p.I776V), DSC2(NM_024422.4):c.2326A>G (p.I776V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069076T>C" "" "benign" ""
"0000275542" "0" "50" "18" "28649040" "28649040" "subst" "0.0000122009" "01943" "DSC2_000025" "g.28649040G>C" "" "" "" "DSC2(NM_004949.3):c.2328C>G (p.I776M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069074G>C" "" "VUS" ""
"0000275543" "0" "10" "18" "28648975" "28648975" "subst" "0.0481471" "01943" "DSC2_000029" "g.28648975C>T" "" "" "" "DSC2(NM_004949.3):c.2393G>A (p.R798Q), DSC2(NM_024422.4):c.2393G>A (p.R798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31069009C>T" "" "benign" ""
"0000275544" "0" "30" "18" "28648905" "28648905" "subst" "0" "01943" "DSC2_000185" "g.28648905G>A" "" "" "" "DSC2(NM_024422.4):c.2463C>T (p.Y821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068939G>A" "" "likely benign" ""
"0000275545" "0" "50" "18" "28648894" "28648894" "subst" "0" "01943" "DSC2_000184" "g.28648894T>C" "" "" "" "DSC2(NM_024422.4):c.2474A>G (p.E825G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068928T>C" "" "VUS" ""
"0000275546" "0" "30" "18" "28648198" "28648199" "del" "0" "01943" "DSC2_000182" "g.28648198_28648199del" "" "" "" "DSC2(NM_024422.4):c.2509-21_2509-20delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31068232_31068233del" "" "likely benign" ""
"0000275548" "0" "30" "18" "28672148" "28672148" "subst" "0.000500627" "01943" "DSC2_000173" "g.28672148C>T" "" "" "" "DSC2(NM_004949.3):c.270G>A (p.E90=), DSC2(NM_024422.4):c.270G>A (p.E90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092185C>T" "" "likely benign" ""
"0000275549" "0" "50" "18" "28672091" "28672091" "subst" "0.0000366393" "01943" "DSC2_000073" "g.28672091T>C" "" "" "" "DSC2(NM_004949.3):c.327A>G (p.I109M), DSC2(NM_024422.4):c.327A>G (p.I109M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092128T>C" "" "VUS" ""
"0000275550" "0" "10" "18" "28681903" "28681903" "subst" "0.0136759" "01943" "DSC2_000001" "g.28681903T>C" "" "" "" "DSC2(NM_004949.3):c.32A>G (p.N11S, p.(Asn11Ser)), DSC2(NM_024422.4):c.32A>G (p.N11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101940T>C" "" "benign" ""
"0000275551" "0" "10" "18" "28672067" "28672067" "subst" "0.00841612" "01943" "DSC2_000004" "g.28672067T>C" "" "" "" "DSC2(NM_004949.3):c.351A>G (p.T117=), DSC2(NM_024422.4):c.351A>G (p.T117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31092104T>C" "" "benign" ""
"0000275552" "0" "30" "18" "28681889" "28681889" "subst" "0" "01943" "DSC2_000177" "g.28681889G>T" "" "" "" "DSC2(NM_024422.4):c.46C>A (p.R16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31101926G>T" "" "likely benign" ""
"0000275553" "0" "50" "18" "28666616" "28666616" "subst" "0.0000284359" "01943" "DSC2_000009" "g.28666616G>A" "" "" "" "DSC2(NM_004949.3):c.865C>T (p.P289S), DSC2(NM_024422.4):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086653G>A" "" "VUS" ""
"0000275554" "0" "30" "18" "28666611" "28666611" "subst" "0.000024371" "01943" "DSC2_000161" "g.28666611T>C" "" "" "" "DSC2(NM_004949.3):c.870A>G (p.P290=), DSC2(NM_024422.4):c.870A>G (p.P290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086648T>C" "" "likely benign" ""
"0000275555" "0" "30" "18" "28666553" "28666553" "subst" "0.0000040622" "01943" "DSC2_000157" "g.28666553G>C" "" "" "" "DSC2(NM_024422.4):c.928C>G (p.Q310E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086590G>C" "" "likely benign" ""
"0000275556" "0" "10" "18" "28666527" "28666528" "ins" "0" "01943" "DSC2_000154" "g.28666527_28666528insAAT" "" "" "" "DSC2(NM_004949.3):c.942+11delCinsCATT, DSC2(NM_004949.3):c.942+12_942+13insTTA, DSC2(NM_024422.4):c.942+12_942+13insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31086560_31086562dup" "" "benign" ""
"0000368301" "0" "50" "18" "28666536" "28666536" "subst" "0.00000812539" "02438" "DSC2_000089" "g.28666536T>C" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "" "0" "" "" "g.31086573T>C" "" "VUS" ""
"0000441309" "0" "11" "18" "28667541" "28667541" "subst" "0" "00802" "DSC2_000007" "g.28667541G>C" "" "" "" "" "" "Germline" "" "rs12968498" "0" "" "" "g.31087578G>C" "" "benign" ""
"0000441310" "0" "11" "18" "28667540" "28667540" "subst" "0" "00802" "DSC2_000008" "g.28667540G>A" "" "" "" "" "" "Germline" "" "rs12968497" "0" "" "" "g.31087577G>A" "" "benign" ""
"0000441311" "0" "11" "18" "28663047" "28663047" "subst" "0.000106611" "00802" "DSC2_000011" "g.28663047T>G" "" "" "" "" "" "Germline" "" "rs28685860" "0" "" "" "g.31083081T>G" "" "benign" ""
"0000441312" "0" "11" "18" "28659724" "28659724" "subst" "0" "00802" "DSC2_000016" "g.28659724T>C" "" "" "" "" "" "Germline" "" "rs1658128" "0" "" "" "g.31079758T>C" "" "benign" ""
"0000441313" "0" "11" "18" "28651900" "28651900" "subst" "0" "00802" "DSC2_000020" "g.28651900T>C" "" "" "" "" "" "Germline" "" "rs57830743" "0" "" "" "g.31071934T>C" "" "benign" ""
"0000441314" "0" "11" "18" "28649166" "28649166" "subst" "0.0667853" "00802" "DSC2_000022" "g.28649166A>G" "" "" "" "" "" "Germline" "" "rs1893962" "0" "" "" "g.31069200A>G" "" "benign" ""
"0000441315" "0" "11" "18" "28649215" "28649215" "subst" "0" "00802" "DSC2_000023" "g.28649215A>G" "" "" "" "" "" "Germline" "" "rs1893961" "0" "" "" "g.31069249A>G" "" "benign" ""
"0000441316" "0" "15" "18" "28649040" "28649040" "subst" "0.0000122009" "00802" "DSC2_000025" "g.28649040G>C" "" "" "" "" "" "Germline" "" "rs1789054" "0" "" "" "g.31069074G>C" "" "benign" ""
"0000441317" "0" "15" "18" "28649009" "28649009" "subst" "0" "00802" "DSC2_000026" "g.28649009C>T" "" "" "" "" "" "Germline" "" "rs1789053" "0" "" "" "g.31069043C>T" "" "benign" ""
"0000441318" "0" "15" "18" "28648995" "28648995" "subst" "0" "00802" "DSC2_000027" "g.28648995G>T" "" "" "" "" "" "Germline" "" "rs1789052" "0" "" "" "g.31069029G>T" "" "benign" ""
"0000441319" "0" "15" "18" "28648987" "28648987" "subst" "0.0000366002" "00802" "DSC2_000028" "g.28648987G>A" "" "" "" "" "" "Germline" "" "rs1617629" "0" "" "" "g.31069021G>A" "" "benign" ""
"0000441320" "0" "11" "18" "28648332" "28648332" "subst" "0" "00802" "DSC2_000030" "g.28648332C>T" "" "" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "rs1790682" "0" "" "" "" "" "benign" ""
"0000441321" "0" "11" "18" "28666527" "28666528" "ins" "0" "00802" "DSC2_000053" "g.28666527_28666528insAAT" "" "" "" "" "" "Germline" "" "rs5823783" "0" "" "" "g.31086560_31086562dup" "" "benign" ""
"0000441465" "0" "11" "18" "28681903" "28681903" "subst" "0.0136759" "00802" "DSC2_000001" "g.28681903T>C" "" "{PMID:den Haan:20031617}, ARVD/C database 7521" "" "" "" "Germline" "" "rs868333" "0" "" "" "g.31101940T>C" "" "benign" ""
"0000441466" "0" "11" "18" "28673565" "28673565" "subst" "0.114547" "00802" "DSC2_000002" "g.28673565T>C" "" "{PMID:Posch:18678517}, ARVD/C database 7522" "" "" "" "Germline" "" "" "0" "" "" "g.31093602T>C" "" "benign" ""
"0000441467" "0" "95" "18" "28672114" "28672114" "subst" "0.000752908" "00802" "DSC2_000003" "g.28672114C>T" "" "{PMID:Beffagna:17963498}, {PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7523" "" "" "" "Germline" "" "" "0" "" "" "g.31092151C>T" "" "pathogenic" ""
"0000441468" "0" "11" "18" "28672067" "28672067" "subst" "0.00841612" "00802" "DSC2_000004" "g.28672067T>C" "" "{PMID:Posch:18678517}, ARVD/C database 7605" "" "" "" "Germline" "" "" "0" "" "" "g.31092104T>C" "" "benign" ""
"0000441469" "0" "11" "18" "28667789" "28667789" "subst" "0.00000407043" "00802" "DSC2_000005" "g.28667789T>C" "" "{PMID:Posch:18678517}, ARVD/C database 7606" "" "" "" "Germline" "" "" "0" "" "" "g.31087826T>C" "" "benign" ""
"0000441470" "0" "99" "18" "28667778" "28667778" "subst" "0.0000162614" "00802" "DSC2_000006" "g.28667778T>C" "" "{PMID:Heuser:17186466}, ARVD/C database 7524" "" "" "" "Germline" "" "" "0" "" "" "g.31087815T>C" "" "pathogenic" ""
"0000441471" "0" "55" "18" "28666616" "28666616" "subst" "0.0000284359" "00802" "DSC2_000009" "g.28666616G>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7525" "" "" "" "Germline" "" "" "0" "" "" "g.31086653G>A" "" "VUS" ""
"0000441472" "0" "11" "18" "28666557" "28666557" "subst" "0" "00802" "DSC2_000010" "g.28666557T>A" "" "{PMID:Posch:18678517}, ARVD/C database 7607" "" "" "" "Germline" "" "" "0" "" "" "g.31086594T>A" "" "benign" ""
"0000441473" "0" "95" "18" "28662935" "28662935" "subst" "0.00000813319" "00802" "DSC2_000012" "g.28662935A>G" "" "{PMID:Beffagna:17963498}, {PMID:De Bortoli:20197793}, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7526" "" "" "" "Germline" "" "" "0" "" "" "g.31082969A>G" "" "pathogenic" ""
"0000441474" "0" "95" "18" "28662921" "28662921" "subst" "0.00000406706" "00802" "DSC2_000013" "g.28662921C>A" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7527" "" "" "" "Germline" "" "" "0" "" "" "g.31082955C>A" "" "pathogenic" ""
"0000441475" "0" "11" "18" "28662896" "28662896" "subst" "0.00135889" "00802" "DSC2_000014" "g.28662896G>A" "" "{PMID:Posch:18678517}, ARVD/C database 7608" "" "" "" "Germline" "" "" "0" "" "" "g.31082930G>A" "" "benign" ""
"0000441476" "0" "99" "18" "28660152" "28660152" "del" "0" "00802" "DSC2_000015" "g.28660152del" "" "{PMID:Syrris:17033975}, ARVD/C database 7528" "" "1430delC" "" "Germline" "" "" "0" "" "" "g.31080186del" "" "pathogenic" ""
"0000441477" "0" "55" "18" "28654730" "28654730" "subst" "0" "00802" "DSC2_000017" "g.28654730T>G" "" "unpublished, ARVD/C database 7529" "" "" "" "Germline" "" "" "0" "" "" "g.31074764T>G" "" "VUS" ""
"0000441478" "0" "95" "18" "28654729" "28654729" "subst" "0" "00802" "DSC2_000018" "g.28654729A>G" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7530" "" "" "" "Germline" "" "" "0" "" "" "g.31074763A>G" "" "pathogenic" ""
"0000441479" "0" "99" "18" "28654696" "28654696" "del" "0" "00802" "DSC2_000019" "g.28654696del" "" "{PMID:Simpson:18957847}, ARVD/C database 7598" "" "1841delG" "" "Germline" "" "" "0" "" "" "g.31074730del" "" "pathogenic" ""
"0000441480" "0" "95" "18" "28650748" "28650748" "subst" "0.00117044" "00802" "DSC2_000021" "g.28650748A>C" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7632" "" "" "Digenic: DSC2 p.Leu732Val and DSG2 p.Val392Ile" "Germline" "" "" "0" "" "" "g.31070782A>C" "" "pathogenic" ""
"0000441481" "0" "55" "18" "28650748" "28650748" "subst" "0.00117044" "02140" "DSC2_000021" "g.28650748A>C" "" "{PMID:Bhuiyan:20031616}, ARVD/C database 7632" "" "" "" "Germline" "" "" "0" "" "" "g.31070782A>C" "" "VUS" ""
"0000441482" "0" "11" "18" "28649042" "28649042" "subst" "0.114844" "00802" "DSC2_000024" "g.28649042T>C" "" "{PMID:Posch:18678517}, ARVD/C database 7531" "" "" "" "Germline" "" "rs1893963" "0" "" "" "g.31069076T>C" "" "benign" ""
"0000441483" "0" "11" "18" "28649042" "28649042" "subst" "0.114844" "00802" "DSC2_000024" "g.28649042T>C" "" "{PMID:Yu:18632414}, ARVD/C database 7531" "" "" "" "Germline" "" "rs1893963" "0" "" "" "g.31069076T>C" "" "benign" ""
"0000441484" "0" "11" "18" "28648975" "28648975" "subst" "0.0481471" "00802" "DSC2_000029" "g.28648975C>T" "" "{PMID:Posch:18678517}, ARVD/C database 7609" "" "" "" "Germline" "" "" "0" "" "" "g.31069009C>T" "" "benign" ""
"0000441485" "0" "95" "18" "28648046" "28648047" "dup" "0" "00802" "DSC2_000031" "g.28648046_28648047dup" "" "{PMID:van Tintelen:16567567}, {PMID:Bhuiyan:20031616}, ARVD/C database 7536" "" "2687_2688insGA" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000441486" "0" "55" "18" "28648046" "28648047" "dup" "0" "00802" "DSC2_000031" "g.28648046_28648047dup" "" "unpublished, ARVD/C database 7536" "" "2687_2688insGA" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000441487" "0" "95" "18" "28648046" "28648047" "dup" "0" "00802" "DSC2_000031" "g.28648046_28648047dup" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7536" "" "2687_2688insGA" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000441488" "0" "15" "18" "28648046" "28648047" "dup" "0" "00802" "DSC2_000031" "g.28648046_28648047dup" "" "{PMID:den Haan:20031617}, ARVD/C database 7536" "" "2687_2688insGA" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000441489" "0" "95" "18" "28648046" "28648047" "dup" "0" "00802" "DSC2_000031" "g.28648046_28648047dup" "" "{PMID:Syrris et al.:17033975}" "" "2687_2688insGA" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000441490" "0" "55" "18" "28672208" "28672208" "subst" "0" "00802" "DSC2_000032" "g.28672208G>T" "" "unpublished, ARVD/C database 7785" "" "" "" "Germline" "" "" "0" "" "" "g.31092245G>T" "" "VUS" ""
"0000441491" "0" "11" "18" "28669633" "28669633" "subst" "0" "00802" "DSC2_000033" "g.28669633C>G" "" "unpublished, ARVD/C database 7786" "" "" "" "Germline" "" "" "0" "" "" "g.31089670C>G" "" "benign" ""
"0000441492" "0" "99" "18" "28663027" "28663027" "subst" "0" "00802" "DSC2_000034" "g.28663027C>T" "" "unpublished, ARVD/C database 7787" "" "" "" "Germline" "" "" "0" "" "" "g.31083061C>T" "" "pathogenic" ""
"0000441493" "0" "11" "18" "28662420" "28662420" "subst" "0.00278101" "00802" "DSC2_000035" "g.28662420G>A" "" "unpublished, ARVD/C database 7789" "" "" "" "Germline" "" "" "0" "" "" "g.31082454G>A" "" "benign" ""
"0000441494" "0" "11" "18" "28662429" "28662429" "subst" "0.0030592" "00802" "DSC2_000036" "g.28662429T>A" "" "unpublished, ARVD/C database 7788" "" "" "" "Germline" "" "" "0" "" "" "g.31082463T>A" "" "benign" ""
"0000441495" "0" "55" "18" "28654816" "28654816" "subst" "0.0000650867" "00802" "DSC2_000037" "g.28654816C>T" "" "unpublished, ARVD/C database 7790" "" "" "" "Germline" "" "" "0" "" "" "g.31074850C>T" "" "VUS" ""
"0000441496" "0" "55" "18" "28654808" "28654808" "subst" "0.000272508" "00802" "DSC2_000038" "g.28654808T>C" "" "unpublished, ARVD/C database 7791" "" "" "" "Germline" "" "" "0" "" "" "g.31074842T>C" "" "VUS" ""
"0000441497" "0" "11" "18" "28649144" "28649144" "subst" "0.0140857" "00802" "DSC2_000039" "g.28649144G>T" "" "unpublished, ARVD/C database 7793" "" "" "" "Germline" "" "" "0" "" "" "g.31069178G>T" "" "benign" ""
"0000441498" "0" "11" "18" "28649137" "28649137" "subst" "0.0000368581" "00802" "DSC2_000040" "g.28649137C>T" "" "unpublished, ARVD/C database 7794" "" "" "" "Germline" "" "" "0" "" "" "g.31069171C>T" "" "benign" ""
"0000441499" "0" "55" "18" "28648143" "28648143" "subst" "0" "00802" "DSC2_000041" "g.28648143T>A" "" "unpublished, ARVD/C database 7795" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000441500" "0" "99" "18" "28673543" "28673543" "del" "0" "00802" "DSC2_000042" "g.28673543del" "" "Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7913" "" "133delG" "" "Germline" "" "" "0" "" "" "g.31093580del" "" "pathogenic" ""
"0000441501" "0" "99" "18" "28673543" "28673543" "del" "0" "00802" "DSC2_000042" "g.28673543del" "" "Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7913" "" "133delG" "" "Germline" "" "" "0" "" "" "g.31093580del" "" "pathogenic" ""
"0000441502" "0" "55" "18" "28667786" "28667786" "subst" "0.00000406835" "00802" "DSC2_000043" "g.28667786G>A" "" "Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7906" "" "" "" "Germline" "" "" "0" "" "" "g.31087823G>A" "" "VUS" ""
"0000441503" "0" "11" "18" "28654750" "28654750" "subst" "0.00122439" "00802" "DSC2_000044" "g.28654750G>A" "" "{PMID:den Haan:20031617}, ARVD/C database 7881" "" "" "" "Germline" "" "" "0" "" "" "g.31074784G>A" "" "benign" ""
"0000441504" "0" "11" "18" "28651782" "28651782" "subst" "0.000554401" "00802" "DSC2_000045" "g.28651782C>G" "" "{PMID:Dalal 2006:16549640}, {PMID:Dalal 2009:19358943}, ARVD/C database 7880" "" "" "" "Germline" "" "" "0" "" "" "g.31071816C>G" "" "benign" ""
"0000441505" "0" "55" "18" "28669405" "28669405" "subst" "0.0000162504" "00802" "DSC2_000046" "g.28669405A>G" "" "unpublished, ARVD/C database 7925" "" "" "Found once in 170 patients" "Germline" "" "" "0" "" "" "g.31089442A>G" "" "VUS" ""
"0000441506" "0" "11" "18" "28667805" "28667805" "subst" "0.0000122408" "00802" "DSC2_000047" "g.28667805G>C" "" "unpublished, ARVD/C database 7926" "" "" "" "Germline" "" "" "0" "" "" "g.31087842G>C" "" "benign" ""
"0000441507" "0" "11" "18" "28662166" "28662166" "subst" "0.000157377" "00802" "DSC2_000048" "g.28662166T>C" "" "unpublished, ARVD/C database 7927" "" "" "" "Germline" "" "" "0" "" "" "g.31082200T>C" "" "benign" ""
"0000441508" "0" "55" "18" "28649082" "28649082" "subst" "0.0000691754" "00802" "DSC2_000049" "g.28649082G>A" "" "unpublished, ARVD/C database 7928" "" "" "Found once in 230 patients" "Germline" "" "" "0" "" "" "g.31069116G>A" "" "VUS" ""
"0000441509" "0" "55" "18" "28649002" "28649004" "del" "0" "00802" "DSC2_000050" "g.28649002_28649004del" "" "unpublished, ARVD/C database 7929" "" "2368_2370delGGA" "Found once in a control sample, never in a patient" "Germline" "" "" "0" "" "" "g.31069036_31069038del" "" "VUS" ""
"0000441510" "0" "55" "18" "28648874" "28648874" "subst" "0" "00802" "DSC2_000051" "g.28648874G>T" "" "unpublished, ARVD/C database 7930" "" "" "" "Germline" "" "" "0" "" "" "g.31068908G>T" "" "VUS" ""
"0000441511" "0" "55" "18" "28648146" "28648146" "subst" "0" "00802" "DSC2_000052" "g.28648146C>T" "" "unpublished, ARVD/C database 7931" "" "" "Found once in 230 patients\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000441512" "0" "99" "18" "28673580" "28673580" "del" "0" "00802" "DSC2_000054" "g.28673580del" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7965" "" "96delC" "" "Germline" "" "" "0" "" "" "g.31093617del" "" "pathogenic" ""
"0000441513" "0" "95" "18" "28667715" "28667715" "subst" "0" "00802" "DSC2_000055" "g.28667715A>G" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7966" "" "" "" "Germline" "" "" "0" "" "" "g.31087752A>G" "" "pathogenic" ""
"0000441514" "0" "95" "18" "28662951" "28662951" "subst" "0.0000325423" "00802" "DSC2_000056" "g.28662951T>C" "" "{PMID:Barahona-Dussault:19863551}, ARVD/C database 7967" "" "1017A>G" "" "Germline" "" "" "0" "" "" "g.31082985T>C" "" "pathogenic" ""
"0000441515" "0" "95" "18" "28666607" "28666607" "subst" "0.0000121854" "00802" "DSC2_000057" "g.28666607G>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7973" "" "" "" "Germline" "" "" "0" "" "" "g.31086644G>A" "" "pathogenic" ""
"0000441516" "0" "95" "18" "28662943" "28662943" "subst" "0" "00802" "DSC2_000058" "g.28662943T>C" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7974" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000441517" "0" "99" "18" "28659816" "28659816" "subst" "0.00000406739" "00802" "DSC2_000059" "g.28659816G>A" "" "onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7975" "" "" "" "Germline" "" "" "0" "" "" "g.31079850G>A" "" "pathogenic" ""
"0000441518" "0" "11" "18" "28669496" "28669496" "subst" "0.00000406309" "00802" "DSC2_000060" "g.28669496T>C" "" "{PMID:De Bortoli:20197793}, ARVD/C database 7983" "" "" "MAF: 2.7%" "Germline" "" "" "0" "" "" "g.31089533T>C" "" "benign" ""
"0000441519" "0" "11" "18" "28681992" "28681992" "subst" "0" "00802" "DSC2_000061" "g.28681992C>T" "" "unpublished, ARVD/C database 8131" "" "" "" "Germline" "" "" "0" "" "" "g.31102029C>T" "" "benign" ""
"0000441520" "0" "11" "18" "28681970" "28681970" "subst" "0.0000132499" "00802" "DSC2_000062" "g.28681970G>C" "" "unpublished, ARVD/C database 7600" "" "" "" "Germline" "" "" "0" "" "" "g.31102007G>C" "" "benign" ""
"0000441521" "0" "99" "18" "28681931" "28681931" "subst" "0.000105519" "00802" "DSC2_000063" "g.28681931C>T" "" "unpublished, ARVD/C database 8092" "" "" "" "Germline" "" "" "0" "" "" "g.31101968C>T" "" "pathogenic" ""
"0000441522" "0" "55" "18" "28681912" "28681912" "subst" "0.0000769112" "00802" "DSC2_000064" "g.28681912C>A" "" "unpublished, ARVD/C database 8244" "" "" "" "Germline" "" "" "0" "" "" "g.31101949C>A" "" "VUS" ""
"0000441523" "0" "55" "18" "0" "0" "" "0" "00802" "DSC2_000065" "g.28681901C>D" "" "unpublished, ARVD/C database 8146" "" "" "DNA change not specified" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000441524" "0" "11" "18" "28681839" "28681839" "del" "0" "00802" "DSC2_000066" "g.28681839del" "" "unpublished, ARVD/C database 8132" "" "69+30delG" "" "Germline" "" "" "0" "" "" "g.31101876del" "" "benign" ""
"0000441525" "0" "55" "18" "28673540" "28673540" "subst" "0.000097515" "00802" "DSC2_000067" "g.28673540C>T" "" "unpublished, ARVD/C database 8007" "" "" "" "Germline" "" "" "0" "" "" "g.31093577C>T" "" "VUS" ""
"0000441526" "0" "55" "18" "28672246" "28672246" "subst" "0.000118105" "00802" "DSC2_000068" "g.28672246A>C" "" "unpublished, ARVD/C database 8077" "" "" "" "Germline" "" "" "0" "" "" "g.31092283A>C" "" "VUS" ""
"0000441527" "0" "99" "18" "28672189" "28672189" "subst" "0" "00802" "DSC2_000069" "g.28672189C>T" "" "unpublished, ARVD/C database 8349" "" "" "" "Germline" "" "" "0" "" "" "g.31092226C>T" "" "pathogenic" ""
"0000441528" "0" "55" "18" "28672152" "28672152" "subst" "0.0000854805" "00802" "DSC2_000070" "g.28672152G>A" "" "unpublished, ARVD/C database 8251" "" "" "" "Germline" "" "" "0" "" "" "g.31092189G>A" "" "VUS" ""
"0000441529" "0" "55" "18" "28672146" "28672147" "ins" "0" "00802" "DSC2_000071" "g.28672146_28672147insATTG" "" "unpublished, ARVD/C database 8407" "" "" "" "Germline" "" "" "0" "" "" "g.31092183_31092184insATTG" "" "VUS" ""
"0000441530" "0" "99" "18" "28672131" "28672131" "subst" "0" "00802" "DSC2_000072" "g.28672131A>G" "" "unpublished, ARVD/C database 8350" "" "" "" "Germline" "" "" "0" "" "" "g.31092168A>G" "" "pathogenic" ""
"0000441531" "0" "55" "18" "28672091" "28672091" "subst" "0.0000366393" "00802" "DSC2_000073" "g.28672091T>C" "" "unpublished, ARVD/C database 8254" "" "" "" "Germline" "" "" "0" "" "" "g.31092128T>C" "" "VUS" ""
"0000441532" "0" "99" "18" "28672077" "28672077" "del" "0" "00802" "DSC2_000074" "g.28672077del" "" "unpublished, ARVD/C database 8044" "" "" "" "Germline" "" "" "0" "" "" "g.31092114del" "" "pathogenic" ""
"0000441533" "0" "99" "18" "28671071" "28671071" "subst" "0.0000365946" "00802" "DSC2_000075" "g.28671071G>A" "" "unpublished, ARVD/C database 8045" "" "" "" "Germline" "" "" "0" "" "" "g.31091108G>A" "" "pathogenic" ""
"0000441534" "0" "99" "18" "28671016" "28671016" "subst" "0" "00802" "DSC2_000076" "g.28671016C>G" "" "unpublished, ARVD/C database 8093" "" "" "" "Germline" "" "" "0" "" "" "g.31091053C>G" "" "pathogenic" ""
"0000441535" "0" "99" "18" "28669467" "28669467" "subst" "0" "00802" "DSC2_000077" "g.28669467C>G" "" "unpublished, ARVD/C database 8351" "" "" "" "Germline" "" "" "0" "" "" "g.31089504C>G" "" "pathogenic" ""
"0000441536" "0" "11" "18" "28669450" "28669450" "subst" "0" "00802" "DSC2_000078" "g.28669450G>C" "" "unpublished, ARVD/C database 8354" "" "" "" "Germline" "" "" "0" "" "" "g.31089487G>C" "" "benign" ""
"0000441537" "0" "99" "18" "28669424" "28669424" "subst" "0.0000121869" "00802" "DSC2_000079" "g.28669424C>T" "" "unpublished, ARVD/C database 8237" "" "" "" "Germline" "" "" "0" "" "" "g.31089461C>T" "" "pathogenic" ""
"0000441538" "0" "99" "18" "28669425" "28669425" "subst" "0.0000040623" "00802" "DSC2_000080" "g.28669425G>A" "" "unpublished, ARVD/C database 8108" "" "" "" "Germline" "" "" "0" "" "" "g.31089462G>A" "" "pathogenic" ""
"0000441539" "0" "11" "18" "28666717" "28666717" "subst" "0.0000164272" "00802" "DSC2_000081" "g.28666717A>C" "" "unpublished, ARVD/C database 8859" "" "" "" "Germline" "" "" "0" "" "" "g.31086754A>C" "" "benign" ""
"0000441540" "0" "11" "18" "28667789" "28667789" "dup" "0" "00802" "DSC2_000082" "g.28667789dup" "" "unpublished, ARVD/C database 8008" "" "631-13dupA" "" "Germline" "" "" "0" "" "" "g.31087826dup" "" "benign" ""
"0000441541" "0" "99" "18" "28667749" "28667749" "subst" "0" "00802" "DSC2_000083" "g.28667749C>T" "" "unpublished, ARVD/C database 8089" "" "" "" "Germline" "" "" "0" "" "" "g.31087786C>T" "" "pathogenic" ""
"0000441542" "0" "99" "18" "28667725" "28667725" "del" "0" "00802" "DSC2_000084" "g.28667725del" "" "unpublished, ARVD/C database 8110" "" "685delC" "" "Germline" "" "" "0" "" "" "g.31087762del" "" "pathogenic" ""
"0000441543" "0" "99" "18" "28667695" "28667697" "del" "0" "00802" "DSC2_000085" "g.28667695_28667697del" "" "unpublished, ARVD/C database 8861" "" "712_714delGAT" "" "Germline" "" "" "0" "" "" "g.31087732_31087734del" "" "pathogenic" ""
"0000441544" "0" "55" "18" "28667673" "28667673" "subst" "0.0000244143" "00802" "DSC2_000086" "g.28667673T>G" "" "unpublished, ARVD/C database 8147" "" "" "" "Germline" "" "" "0" "" "" "g.31087710T>G" "" "VUS" ""
"0000441545" "3" "99" "18" "28666657" "28666657" "subst" "0.0000162537" "00802" "DSC2_000087" "g.28666657G>A" "" "unpublished, ARVD/C database 8109" "" "" "" "Germline" "" "" "0" "" "" "g.31086694G>A" "" "pathogenic" ""
"0000441546" "0" "55" "18" "28666574" "28666574" "subst" "0.0010967" "00802" "DSC2_000088" "g.28666574C>T" "" "unpublished, ARVD/C database 8148" "" "" "" "Germline" "" "" "0" "" "" "g.31086611C>T" "" "VUS" ""
"0000441547" "0" "99" "18" "28666536" "28666536" "subst" "0.00000812539" "00802" "DSC2_000089" "g.28666536T>C" "" "unpublished, ARVD/C database 8238" "" "" "" "Germline" "" "" "0" "" "" "g.31086573T>C" "" "pathogenic" ""
"0000441548" "0" "99" "18" "28662356" "28662357" "del" "0" "00802" "DSC2_000090" "g.28662356_28662357del" "" "unpublished, ARVD/C database 8111" "" "1112_1113delTG" "" "Germline" "" "" "0" "" "" "g.31082390_31082391del" "" "pathogenic" ""
"0000441549" "0" "99" "18" "28662344" "28662344" "subst" "0.0000081359" "00802" "DSC2_000091" "g.28662344G>A" "" "unpublished, ARVD/C database 8062" "" "" "DNA change not reported" "Germline" "" "" "0" "" "" "g.31082378G>A" "" "pathogenic" ""
"0000441550" "0" "55" "18" "28662327" "28662327" "subst" "0" "00802" "DSC2_000092" "g.28662327A>C" "" "unpublished, ARVD/C database 8012" "" "" "" "Germline" "" "" "0" "" "" "g.31082361A>C" "" "VUS" ""
"0000441551" "0" "99" "18" "28662236" "28662236" "dup" "0" "00802" "DSC2_000093" "g.28662236dup" "" "unpublished, ARVD/C database 8303" "" "" "" "Germline" "" "" "0" "" "" "g.31082270dup" "" "pathogenic" ""
"0000441552" "0" "55" "18" "28660302" "28660302" "subst" "0" "00802" "DSC2_000094" "g.28660302T>C" "" "unpublished, ARVD/C database 8149" "" "" "" "Germline" "" "" "0" "" "" "g.31080336T>C" "" "VUS" ""
"0000441553" "0" "11" "18" "28660274" "28660274" "subst" "0.000044781" "00802" "DSC2_000095" "g.28660274A>G" "" "unpublished, ARVD/C database 8134" "" "" "" "Germline" "" "" "0" "" "" "g.31080308A>G" "" "benign" ""
"0000441554" "0" "11" "18" "28660232" "28660232" "subst" "0.00310412" "00802" "DSC2_000096" "g.28660232T>C" "" "unpublished, ARVD/C database 8011" "" "" "" "Germline" "" "" "0" "" "" "g.31080266T>C" "" "benign" ""
"0000441555" "0" "99" "18" "28659955" "28659955" "subst" "0.0000284764" "00802" "DSC2_000097" "g.28659955C>T" "" "unpublished, ARVD/C database 8312" "" "" "" "Germline" "" "" "0" "" "" "g.31079989C>T" "" "pathogenic" ""
"0000441556" "0" "55" "18" "28654762" "28654762" "subst" "0.000150511" "00802" "DSC2_000098" "g.28654762G>A" "" "unpublished, ARVD/C database 8078" "" "" "" "Germline" "" "" "0" "" "" "g.31074796G>A" "" "VUS" ""
"0000441557" "0" "55" "18" "28654723" "28654723" "subst" "0" "00802" "DSC2_000099" "g.28654723C>T" "" "unpublished, ARVD/C database 8150" "" "" "" "Germline" "" "" "0" "" "" "g.31074757C>T" "" "VUS" ""
"0000441558" "0" "11" "18" "28654598" "28654598" "subst" "0" "00802" "DSC2_000100" "g.28654598C>T" "" "unpublished, ARVD/C database 8010" "" "" "" "Germline" "" "" "0" "" "" "g.31074632C>T" "" "benign" ""
"0000441559" "0" "11" "18" "28651855" "28651855" "subst" "0.0000130738" "00802" "DSC2_000101" "g.28651855T>A" "" "unpublished, ARVD/C database 8133" "" "" "" "Germline" "" "" "0" "" "" "g.31071889T>A" "" "benign" ""
"0000441560" "3" "99" "18" "28651780" "28651783" "del" "0" "00802" "DSC2_000102" "g.28651780_28651783del" "" "unpublished, ARVD/C database 8081" "" "1913_1916delAGAA" "" "Germline" "" "" "0" "" "" "g.31071814_31071817del" "" "pathogenic" ""
"0000441561" "0" "55" "18" "28650790" "28650790" "subst" "0" "00802" "DSC2_000103" "g.28650790C>T" "" "unpublished, ARVD/C database 8009" "" "" "" "Germline" "" "" "0" "" "" "g.31070824C>T" "" "VUS" ""
"0000441562" "0" "55" "18" "28648984" "28648984" "subst" "0" "00802" "DSC2_000104" "g.28648984T>C" "" "unpublished, ARVD/C database 8079" "" "E795K" "" "Germline" "" "" "0" "" "" "g.31069018T>C" "" "VUS" ""
"0000441563" "0" "11" "18" "28648922" "28648922" "subst" "0.00000813068" "00802" "DSC2_000105" "g.28648922C>T" "" "unpublished, ARVD/C database 8787" "" "" "" "Germline" "" "" "0" "" "" "g.31068956C>T" "" "benign" ""
"0000441564" "0" "55" "18" "28648898" "28648898" "subst" "0.00000406759" "00802" "DSC2_000106" "g.28648898A>C" "" "unpublished, ARVD/C database 8151" "" "" "" "Germline" "" "" "0" "" "" "g.31068932A>C" "" "VUS" ""
"0000441565" "0" "99" "18" "28648897" "28648897" "subst" "0.0000976507" "00802" "DSC2_000107" "g.28648897G>A" "" "unpublished, ARVD/C database 8094" "" "" "" "Germline" "" "" "0" "" "" "g.31068931G>A" "" "pathogenic" ""
"0000441566" "0" "55" "18" "28648871" "28648871" "subst" "0.000370956" "00802" "DSC2_000108" "g.28648871G>A" "" "unpublished, ARVD/C database 8152" "" "" "" "Germline" "" "" "0" "" "" "g.31068905G>A" "" "VUS" ""
"0000441567" "0" "55" "18" "28648870" "28648870" "subst" "0.000138617" "00802" "DSC2_000109" "g.28648870C>T" "" "unpublished, ARVD/C database 8154" "" "" "" "Germline" "" "" "0" "" "" "g.31068904C>T" "" "VUS" ""
"0000441568" "0" "99" "18" "28648855" "28648855" "subst" "0" "00802" "DSC2_000110" "g.28648855C>T" "" "unpublished, ARVD/C database 8095" "" "" "" "Germline" "" "" "0" "" "" "g.31068889C>T" "" "pathogenic" ""
"0000441569" "0" "99" "18" "28648266" "28648266" "del" "0" "00802" "DSC2_000111" "g.28648266del" "" "unpublished, ARVD/C database 8116" "" "2553delA" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000441570" "0" "55" "18" "28648130" "28648130" "subst" "0" "00802" "DSC2_000112" "g.28648130G>A" "" "unpublished, ARVD/C database 8046" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000441571" "0" "55" "18" "28648097" "28648097" "subst" "0" "00802" "DSC2_000113" "g.28648097T>C" "" "unpublished, ARVD/C database 8153" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000441572" "0" "55" "18" "28666682" "28666682" "subst" "0" "02140" "DSC2_000115" "g.28666682C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31086719C>A" "" "VUS" ""
"0000442465" "0" "90" "18" "28651782" "28651782" "subst" "0.000554401" "00006" "DSC2_000045" "g.28651782C>G" "" "{PMID:Xu 2010:20152563}" "" "" "" "Germline" "" "" "0" "" "" "g.31071816C>G" "" "pathogenic" ""
"0000564278" "0" "10" "18" "28647848" "28647848" "subst" "0" "02327" "DSC2_000193" "g.28647848C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31067882C>T" "" "benign" ""
"0000564279" "0" "10" "18" "28648001" "28648002" "dup" "0" "02330" "DSC2_000127" "g.28648001_28648002dup" "" "" "" "DSC2(NM_024422.4):c.2686_2687dupGA (p.A897Kfs*4), DSC2(NM_024422.5):c.2684delCinsCAG (p.A897Kfs*4), DSC2(NM_024422.5):c.2686_2687dupGA (p.A897Kfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068035_31068036dup" "" "benign" ""
"0000564280" "0" "10" "18" "28648001" "28648002" "dup" "0" "01943" "DSC2_000127" "g.28648001_28648002dup" "" "" "" "DSC2(NM_024422.4):c.2686_2687dupGA (p.A897Kfs*4), DSC2(NM_024422.5):c.2684delCinsCAG (p.A897Kfs*4), DSC2(NM_024422.5):c.2686_2687dupGA (p.A897Kfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068035_31068036dup" "" "benign" ""
"0000564281" "0" "10" "18" "28648001" "28648002" "dup" "0" "02326" "DSC2_000127" "g.28648001_28648002dup" "" "" "" "DSC2(NM_024422.4):c.2686_2687dupGA (p.A897Kfs*4), DSC2(NM_024422.5):c.2684delCinsCAG (p.A897Kfs*4), DSC2(NM_024422.5):c.2686_2687dupGA (p.A897Kfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068035_31068036dup" "" "benign" ""
"0000564283" "0" "30" "18" "28648004" "28648005" "dup" "0" "02325" "DSC2_000195" "g.28648004_28648005dup" "" "" "" "DSC2(NM_024422.5):c.2682_2683dupAG (p.A895Efs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068038_31068039dup" "" "likely benign" ""
"0000564284" "0" "10" "18" "28648051" "28648051" "subst" "0.00021131" "02330" "DSC2_000196" "g.28648051T>C" "" "" "" "DSC2(NM_024422.4):c.2636A>G (p.D879G), DSC2(NM_024422.5):c.2636A>G (p.D879G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068085T>C" "" "benign" ""
"0000564285" "0" "10" "18" "28648071" "28648071" "subst" "0.00050801" "02327" "DSC2_000179" "g.28648071G>A" "" "" "" "DSC2(NM_024422.5):c.2616C>T (p.C872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068105G>A" "" "benign" ""
"0000564286" "0" "50" "18" "28648084" "28648084" "subst" "0.0000447144" "02330" "DSC2_000197" "g.28648084G>A" "" "" "" "DSC2(NM_024422.5):c.2603C>T (p.S868F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068118G>A" "" "VUS" ""
"0000564287" "0" "50" "18" "28648100" "28648100" "subst" "0.000276553" "02327" "DSC2_000181" "g.28648100C>T" "" "" "" "DSC2(NM_024422.4):c.2587G>A (p.G863R), DSC2(NM_024422.5):c.2587G>A (p.G863R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068134C>T" "" "VUS" ""
"0000564288" "0" "50" "18" "28648100" "28648100" "subst" "0.000276553" "02325" "DSC2_000181" "g.28648100C>T" "" "" "" "DSC2(NM_024422.4):c.2587G>A (p.G863R), DSC2(NM_024422.5):c.2587G>A (p.G863R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068134C>T" "" "VUS" ""
"0000564289" "0" "50" "18" "28648178" "28648178" "subst" "0" "02327" "DSC2_000198" "g.28648178T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068212T>C" "" "VUS" ""
"0000564290" "0" "10" "18" "28648200" "28648200" "subst" "0.0363127" "02327" "DSC2_000199" "g.28648200C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068234C>T" "" "benign" ""
"0000564291" "0" "30" "18" "28648330" "28648331" "del" "0.000150681" "02326" "DSC2_000183" "g.28648330_28648331del" "" "" "" "DSC2(NM_004949.3):c.2509-21_2509-20delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068364_31068365del" "" "likely benign" ""
"0000564292" "0" "30" "18" "28648870" "28648870" "subst" "0.000138617" "02326" "DSC2_000109" "g.28648870C>T" "" "" "" "DSC2(NM_004949.3):c.2498G>A (p.R833H), DSC2(NM_024422.4):c.2498G>A (p.R833H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068904C>T" "" "likely benign" ""
"0000564293" "0" "50" "18" "28648954" "28648954" "subst" "0" "02330" "DSC2_000200" "g.28648954G>T" "" "" "" "DSC2(NM_004949.3):c.2414C>A (p.T805N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068988G>T" "" "VUS" ""
"0000564295" "0" "10" "18" "28648975" "28648975" "subst" "0.0481471" "02327" "DSC2_000029" "g.28648975C>T" "" "" "" "DSC2(NM_004949.3):c.2393G>A (p.R798Q), DSC2(NM_024422.4):c.2393G>A (p.R798Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069009C>T" "" "benign" ""
"0000564296" "0" "70" "18" "28648975" "28648975" "del" "0" "02327" "DSC2_000201" "g.28648975del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069009del" "" "likely pathogenic" ""
"0000564297" "0" "30" "18" "28649002" "28649004" "del" "0" "02327" "DSC2_000050" "g.28649002_28649004del" "" "" "" "DSC2(NM_004949.3):c.2368_2370delGGA (p.G790del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069036_31069038del" "" "likely benign" ""
"0000564298" "0" "10" "18" "28649042" "28649042" "subst" "0.114844" "02327" "DSC2_000024" "g.28649042T>C" "" "" "" "DSC2(NM_004949.3):c.2326A>G (p.I776V), DSC2(NM_024422.4):c.2326A>G (p.I776V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069076T>C" "" "benign" ""
"0000564299" "0" "30" "18" "28649054" "28649054" "subst" "0.0000732112" "02327" "DSC2_000202" "g.28649054C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069088C>T" "" "likely benign" ""
"0000564300" "0" "30" "18" "28649070" "28649070" "subst" "0.0000488178" "01943" "DSC2_000187" "g.28649070C>G" "" "" "" "DSC2(NM_004949.3):c.2298G>C (p.Q766H), DSC2(NM_024422.4):c.2298G>C (p.Q766H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069104C>G" "" "likely benign" ""
"0000564301" "0" "30" "18" "28649070" "28649070" "subst" "0.0000488178" "02326" "DSC2_000187" "g.28649070C>G" "" "" "" "DSC2(NM_004949.3):c.2298G>C (p.Q766H), DSC2(NM_024422.4):c.2298G>C (p.Q766H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069104C>G" "" "likely benign" ""
"0000564302" "0" "30" "18" "28649081" "28649081" "subst" "0.0000325478" "01943" "DSC2_000124" "g.28649081C>T" "" "" "" "DSC2(NM_024422.4):c.2287G>A (p.A763T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069115C>T" "" "likely benign" ""
"0000564303" "0" "30" "18" "28649144" "28649144" "subst" "0.0140857" "02327" "DSC2_000039" "g.28649144G>T" "" "" "" "DSC2(NM_004949.3):c.2251-27C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069178G>T" "" "likely benign" ""
"0000564304" "0" "50" "18" "28650724" "28650724" "subst" "0" "02327" "DSC2_000203" "g.28650724A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070758A>G" "" "VUS" ""
"0000564305" "0" "10" "18" "28650734" "28650734" "subst" "0.0000162569" "02330" "DSC2_000204" "g.28650734G>A" "" "" "" "DSC2(NM_004949.3):c.2208C>T (p.N736=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070768G>A" "" "benign" ""
"0000564306" "0" "10" "18" "28650748" "28650748" "subst" "0.00117044" "02330" "DSC2_000021" "g.28650748A>C" "" "" "" "DSC2(NM_004949.3):c.2194T>G (p.L732V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070782A>C" "" "benign" ""
"0000564307" "0" "30" "18" "28650748" "28650748" "subst" "0.00117044" "02325" "DSC2_000021" "g.28650748A>C" "" "" "" "DSC2(NM_004949.3):c.2194T>G (p.L732V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070782A>C" "" "likely benign" ""
"0000564308" "0" "30" "18" "28650748" "28650748" "subst" "0.00117044" "02326" "DSC2_000021" "g.28650748A>C" "" "" "" "DSC2(NM_004949.3):c.2194T>G (p.L732V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070782A>C" "" "likely benign" ""
"0000564309" "0" "30" "18" "28650836" "28650836" "subst" "0.0000203553" "02327" "DSC2_000205" "g.28650836T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070870T>A" "" "likely benign" ""
"0000564310" "0" "30" "18" "28651605" "28651605" "subst" "0" "02327" "DSC2_000206" "g.28651605G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31071639G>A" "" "likely benign" ""
"0000564311" "0" "50" "18" "28651696" "28651696" "subst" "0" "02326" "DSC2_000207" "g.28651696G>T" "" "" "" "DSC2(NM_004949.3):c.2000C>A (p.T667K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31071730G>T" "" "VUS" ""
"0000564312" "0" "30" "18" "28651782" "28651782" "subst" "0.000554401" "02330" "DSC2_000045" "g.28651782C>G" "" "" "" "DSC2(NM_004949.3):c.1914G>C (p.Q638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31071816C>G" "" "likely benign" ""
"0000564313" "0" "30" "18" "28651782" "28651782" "subst" "0.000554401" "02327" "DSC2_000045" "g.28651782C>G" "" "" "" "DSC2(NM_004949.3):c.1914G>C (p.Q638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31071816C>G" "" "likely benign" ""
"0000564314" "0" "30" "18" "28651782" "28651782" "subst" "0.000554401" "02326" "DSC2_000045" "g.28651782C>G" "" "" "" "DSC2(NM_004949.3):c.1914G>C (p.Q638H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31071816C>G" "" "likely benign" ""
"0000564315" "0" "10" "18" "28654750" "28654750" "subst" "0.00122439" "02330" "DSC2_000044" "g.28654750G>A" "" "" "" "DSC2(NM_004949.3):c.1787C>T (p.A596V), DSC2(NM_024422.4):c.1787C>T (p.A596V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074784G>A" "" "benign" ""
"0000564316" "0" "30" "18" "28654750" "28654750" "subst" "0.00122439" "02327" "DSC2_000044" "g.28654750G>A" "" "" "" "DSC2(NM_004949.3):c.1787C>T (p.A596V), DSC2(NM_024422.4):c.1787C>T (p.A596V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074784G>A" "" "likely benign" ""
"0000564317" "0" "30" "18" "28654750" "28654750" "subst" "0.00122439" "02326" "DSC2_000044" "g.28654750G>A" "" "" "" "DSC2(NM_004949.3):c.1787C>T (p.A596V), DSC2(NM_024422.4):c.1787C>T (p.A596V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074784G>A" "" "likely benign" ""
"0000564318" "0" "50" "18" "28654771" "28654771" "subst" "0.000065083" "01943" "DSC2_000208" "g.28654771A>G" "" "" "" "DSC2(NM_004949.3):c.1766T>C (p.M589T), DSC2(NM_024422.4):c.1766T>C (p.M589T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074805A>G" "" "VUS" ""
"0000564319" "0" "30" "18" "28654771" "28654771" "subst" "0.000065083" "02326" "DSC2_000208" "g.28654771A>G" "" "" "" "DSC2(NM_004949.3):c.1766T>C (p.M589T), DSC2(NM_024422.4):c.1766T>C (p.M589T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074805A>G" "" "likely benign" ""
"0000564320" "0" "30" "18" "28654808" "28654808" "subst" "0.000272508" "01943" "DSC2_000038" "g.28654808T>C" "" "" "" "DSC2(NM_004949.3):c.1729A>G (p.I577V), DSC2(NM_024422.4):c.1729A>G (p.I577V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074842T>C" "" "likely benign" ""
"0000564321" "0" "30" "18" "28654808" "28654808" "subst" "0.000272508" "02327" "DSC2_000038" "g.28654808T>C" "" "" "" "DSC2(NM_004949.3):c.1729A>G (p.I577V), DSC2(NM_024422.4):c.1729A>G (p.I577V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074842T>C" "" "likely benign" ""
"0000564322" "0" "50" "18" "28654816" "28654816" "subst" "0.0000650867" "02330" "DSC2_000037" "g.28654816C>T" "" "" "" "DSC2(NM_004949.3):c.1721G>A (p.S574N), DSC2(NM_024422.4):c.1721G>A (p.S574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074850C>T" "" "VUS" ""
"0000564323" "0" "50" "18" "28654816" "28654816" "subst" "0.0000650867" "01943" "DSC2_000037" "g.28654816C>T" "" "" "" "DSC2(NM_004949.3):c.1721G>A (p.S574N), DSC2(NM_024422.4):c.1721G>A (p.S574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074850C>T" "" "VUS" ""
"0000564324" "0" "30" "18" "28654816" "28654816" "subst" "0.0000650867" "02325" "DSC2_000037" "g.28654816C>T" "" "" "" "DSC2(NM_004949.3):c.1721G>A (p.S574N), DSC2(NM_024422.4):c.1721G>A (p.S574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074850C>T" "" "likely benign" ""
"0000564325" "0" "30" "18" "28654816" "28654816" "subst" "0.0000650867" "02326" "DSC2_000037" "g.28654816C>T" "" "" "" "DSC2(NM_004949.3):c.1721G>A (p.S574N), DSC2(NM_024422.4):c.1721G>A (p.S574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074850C>T" "" "likely benign" ""
"0000564326" "0" "10" "18" "28654818" "28654818" "subst" "0.00146864" "02330" "DSC2_000209" "g.28654818G>A" "" "" "" "DSC2(NM_004949.3):c.1719C>T (p.N573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074852G>A" "" "benign" ""
"0000564327" "0" "10" "18" "28654818" "28654818" "subst" "0.00146864" "01943" "DSC2_000209" "g.28654818G>A" "" "" "" "DSC2(NM_004949.3):c.1719C>T (p.N573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074852G>A" "" "benign" ""
"0000564328" "0" "10" "18" "28654818" "28654818" "subst" "0.00146864" "02327" "DSC2_000209" "g.28654818G>A" "" "" "" "DSC2(NM_004949.3):c.1719C>T (p.N573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074852G>A" "" "benign" ""
"0000564329" "0" "30" "18" "28654818" "28654818" "subst" "0.00146864" "02325" "DSC2_000209" "g.28654818G>A" "" "" "" "DSC2(NM_004949.3):c.1719C>T (p.N573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074852G>A" "" "likely benign" ""
"0000564330" "0" "10" "18" "28654818" "28654818" "subst" "0.00146864" "02326" "DSC2_000209" "g.28654818G>A" "" "" "" "DSC2(NM_004949.3):c.1719C>T (p.N573=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074852G>A" "" "benign" ""
"0000564331" "0" "50" "18" "28659813" "28659813" "subst" "0" "02330" "DSC2_000210" "g.28659813C>T" "" "" "" "DSC2(NM_004949.3):c.1663G>A (p.G555R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31079847C>T" "" "VUS" ""
"0000564332" "0" "30" "18" "28659928" "28659928" "subst" "0" "02327" "DSC2_000141" "g.28659928C>A" "" "" "" "DSC2(NM_004949.3):c.1548G>T (p.G516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31079962C>A" "" "likely benign" ""
"0000564333" "0" "30" "18" "28659962" "28659962" "subst" "0.000122081" "02327" "DSC2_000142" "g.28659962G>A" "" "" "" "DSC2(NM_004949.3):c.1521-7C>T, DSC2(NM_024422.4):c.1521-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31079996G>A" "" "likely benign" ""
"0000564334" "0" "30" "18" "28660054" "28660054" "subst" "0.0000773225" "02326" "DSC2_000143" "g.28660054G>C" "" "" "" "DSC2(NM_004949.3):c.1520+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080088G>C" "" "likely benign" ""
"0000564335" "0" "30" "18" "28660187" "28660187" "subst" "0" "02327" "DSC2_000125" "g.28660187C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080221C>G" "" "likely benign" ""
"0000564336" "0" "50" "18" "28660207" "28660207" "subst" "0.00000813484" "02326" "DSC2_000211" "g.28660207T>C" "" "" "" "DSC2(NM_004949.3):c.1375A>G (p.T459A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080241T>C" "" "VUS" ""
"0000564337" "0" "50" "18" "28660261" "28660261" "subst" "0" "02327" "DSC2_000148" "g.28660261C>T" "" "" "" "DSC2(NM_004949.3):c.1321G>A (p.A441T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080295C>T" "" "VUS" ""
"0000564338" "0" "10" "18" "28660313" "28660313" "subst" "0.000130503" "02330" "DSC2_000212" "g.28660313C>T" "" "" "" "DSC2(NM_004949.3):c.1269G>A (p.L423=), DSC2(NM_024422.4):c.1269G>A (p.L423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080347C>T" "" "benign" ""
"0000564339" "0" "10" "18" "28660323" "28660323" "subst" "0.000637094" "02327" "DSC2_000118" "g.28660323G>A" "" "" "" "DSC2(NM_004949.3):c.1264-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080357G>A" "" "benign" ""
"0000564340" "0" "30" "18" "28662236" "28662236" "subst" "0.0000447431" "02327" "DSC2_000149" "g.28662236T>C" "" "" "" "DSC2(NM_024422.4):c.1231A>G (p.K411E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31082270T>C" "" "likely benign" ""
"0000564341" "0" "70" "18" "28662344" "28662344" "subst" "0.0000081359" "02326" "DSC2_000091" "g.28662344G>A" "" "" "" "DSC2(NM_004949.3):c.1123C>T (p.R375*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31082378G>A" "" "likely pathogenic" ""
"0000564342" "0" "10" "18" "28662429" "28662429" "subst" "0.0030592" "02327" "DSC2_000036" "g.28662429T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31082463T>A" "" "benign" ""
"0000564343" "0" "10" "18" "28662896" "28662896" "subst" "0.00135889" "02327" "DSC2_000014" "g.28662896G>A" "" "" "" "DSC2(NM_004949.3):c.1073C>T (p.T358I), DSC2(NM_024422.4):c.1073C>T (p.T358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31082930G>A" "" "benign" ""
"0000564344" "0" "30" "18" "28662899" "28662899" "subst" "0.000215622" "01943" "DSC2_000213" "g.28662899C>T" "" "" "" "DSC2(NM_024422.4):c.1070G>A (p.R357H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31082933C>T" "" "likely benign" ""
"0000564345" "0" "90" "18" "28663027" "28663027" "subst" "0" "02330" "DSC2_000034" "g.28663027C>T" "" "" "" "DSC2(NM_004949.3):c.943-1G>A, DSC2(NM_024422.4):c.943-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31083061C>T" "" "pathogenic" ""
"0000564346" "0" "90" "18" "28663027" "28663027" "subst" "0" "01943" "DSC2_000034" "g.28663027C>T" "" "" "" "DSC2(NM_004949.3):c.943-1G>A, DSC2(NM_024422.4):c.943-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31083061C>T" "" "pathogenic" ""
"0000564347" "0" "70" "18" "28663027" "28663027" "subst" "0" "02325" "DSC2_000034" "g.28663027C>T" "" "" "" "DSC2(NM_004949.3):c.943-1G>A, DSC2(NM_024422.4):c.943-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31083061C>T" "" "likely pathogenic" ""
"0000564348" "0" "90" "18" "28663027" "28663027" "subst" "0" "02326" "DSC2_000034" "g.28663027C>T" "" "" "" "DSC2(NM_004949.3):c.943-1G>A, DSC2(NM_024422.4):c.943-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31083061C>T" "" "pathogenic" ""
"0000564349" "0" "10" "18" "28666527" "28666528" "ins" "0" "02327" "DSC2_000154" "g.28666527_28666528insAAT" "" "" "" "DSC2(NM_004949.3):c.942+11delCinsCATT, DSC2(NM_004949.3):c.942+12_942+13insTTA, DSC2(NM_024422.4):c.942+12_942+13insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086560_31086562dup" "" "benign" ""
"0000564350" "0" "10" "18" "28666527" "28666528" "ins" "0" "02326" "DSC2_000154" "g.28666527_28666528insAAT" "" "" "" "DSC2(NM_004949.3):c.942+11delCinsCATT, DSC2(NM_004949.3):c.942+12_942+13insTTA, DSC2(NM_024422.4):c.942+12_942+13insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086560_31086562dup" "" "benign" ""
"0000564351" "0" "30" "18" "28666527" "28666528" "ins" "0" "02326" "DSC2_000214" "g.28666527_28666528insTA" "" "" "" "DSC2(NM_004949.3):c.942+11_942+12insTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086564_31086565insTA" "" "likely benign" ""
"0000564352" "0" "10" "18" "28666527" "28666528" "ins" "0" "02330" "DSC2_000215" "g.28666527_28666528insTAA" "" "" "" "DSC2(NM_004949.3):c.942+11_942+12insTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086564_31086565insTAA" "" "benign" ""
"0000564353" "0" "10" "18" "28666528" "28666529" "ins" "0" "02325" "DSC2_000216" "g.28666528_28666529insAAT" "" "" "" "DSC2(NM_004949.3):c.942+10_942+11insATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086565_31086566insAAT" "" "benign" ""
"0000564354" "0" "10" "18" "28666536" "28666536" "subst" "0.00000812539" "02330" "DSC2_000089" "g.28666536T>C" "" "" "" "DSC2(NM_004949.3):c.942+3A>G, DSC2(NM_024422.4):c.942+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086573T>C" "" "benign" ""
"0000564355" "0" "50" "18" "28666536" "28666536" "subst" "0.00000812539" "01943" "DSC2_000089" "g.28666536T>C" "" "" "" "DSC2(NM_004949.3):c.942+3A>G, DSC2(NM_024422.4):c.942+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086573T>C" "" "VUS" ""
"0000564356" "0" "30" "18" "28666536" "28666536" "subst" "0.00000812539" "02325" "DSC2_000089" "g.28666536T>C" "" "" "" "DSC2(NM_004949.3):c.942+3A>G, DSC2(NM_024422.4):c.942+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086573T>C" "" "likely benign" ""
"0000564357" "0" "50" "18" "28666536" "28666536" "subst" "0.00000812539" "02326" "DSC2_000089" "g.28666536T>C" "" "" "" "DSC2(NM_004949.3):c.942+3A>G, DSC2(NM_024422.4):c.942+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086573T>C" "" "VUS" ""
"0000564359" "0" "50" "18" "28666580" "28666580" "subst" "0.0000568625" "01943" "DSC2_000159" "g.28666580T>C" "" "" "" "DSC2(NM_004949.3):c.901A>G (p.T301A), DSC2(NM_024422.4):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086617T>C" "" "VUS" ""
"0000564360" "0" "30" "18" "28666580" "28666580" "subst" "0.0000568625" "02325" "DSC2_000159" "g.28666580T>C" "" "" "" "DSC2(NM_004949.3):c.901A>G (p.T301A), DSC2(NM_024422.4):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086617T>C" "" "likely benign" ""
"0000564361" "0" "50" "18" "28666580" "28666580" "subst" "0.0000568625" "02326" "DSC2_000159" "g.28666580T>C" "" "" "" "DSC2(NM_004949.3):c.901A>G (p.T301A), DSC2(NM_024422.4):c.901A>G (p.T301A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086617T>C" "" "VUS" ""
"0000564362" "0" "30" "18" "28666611" "28666611" "subst" "0.000024371" "02327" "DSC2_000161" "g.28666611T>C" "" "" "" "DSC2(NM_004949.3):c.870A>G (p.P290=), DSC2(NM_024422.4):c.870A>G (p.P290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086648T>C" "" "likely benign" ""
"0000564363" "0" "50" "18" "28666616" "28666616" "subst" "0.0000284359" "02327" "DSC2_000009" "g.28666616G>A" "" "" "" "DSC2(NM_004949.3):c.865C>T (p.P289S), DSC2(NM_024422.4):c.865C>T (p.P289S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086653G>A" "" "VUS" ""
"0000564364" "0" "50" "18" "28666627" "28666627" "subst" "0.000146271" "02327" "DSC2_000178" "g.28666627A>G" "" "" "" "DSC2(NM_004949.3):c.854T>C (p.I285T), DSC2(NM_024422.4):c.854T>C (p.I285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086664A>G" "" "VUS" ""
"0000564365" "0" "50" "18" "28666627" "28666627" "subst" "0.000146271" "02325" "DSC2_000178" "g.28666627A>G" "" "" "" "DSC2(NM_004949.3):c.854T>C (p.I285T), DSC2(NM_024422.4):c.854T>C (p.I285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086664A>G" "" "VUS" ""
"0000564366" "0" "50" "18" "28666646" "28666646" "subst" "0.0000446929" "02330" "DSC2_000217" "g.28666646G>A" "" "" "" "DSC2(NM_004949.3):c.835C>T (p.R279C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086683G>A" "" "VUS" ""
"0000564367" "0" "70" "18" "28666657" "28666657" "subst" "0.0000162537" "02327" "DSC2_000087" "g.28666657G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086694G>A" "" "likely pathogenic" ""
"0000564368" "0" "50" "18" "28666679" "28666679" "subst" "0.000154455" "02330" "DSC2_000122" "g.28666679T>C" "" "" "" "DSC2(NM_004949.3):c.802A>G (p.T268A), DSC2(NM_024422.4):c.802A>G (p.T268A), DSC2(NM_024422.5):c.802A>G (p.T268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086716T>C" "" "VUS" ""
"0000564369" "0" "50" "18" "28666679" "28666679" "subst" "0.000154455" "01943" "DSC2_000122" "g.28666679T>C" "" "" "" "DSC2(NM_004949.3):c.802A>G (p.T268A), DSC2(NM_024422.4):c.802A>G (p.T268A), DSC2(NM_024422.5):c.802A>G (p.T268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086716T>C" "" "VUS" ""
"0000564370" "0" "30" "18" "28666698" "28666698" "subst" "0" "02325" "DSC2_000218" "g.28666698A>C" "" "" "" "DSC2(NM_004949.3):c.783T>G (p.T261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086735A>C" "" "likely benign" ""
"0000564371" "0" "10" "18" "28667613" "28667613" "subst" "0" "02330" "DSC2_000219" "g.28667613T>C" "" "" "" "DSC2(NM_004949.3):c.775+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087650T>C" "" "benign" ""
"0000564372" "0" "30" "18" "28667626" "28667626" "subst" "0" "02327" "DSC2_000220" "g.28667626A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087663A>G" "" "likely benign" ""
"0000564373" "0" "10" "18" "28667789" "28667789" "dup" "0" "02330" "DSC2_000082" "g.28667789dup" "" "" "" "DSC2(NM_004949.3):c.631-13dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087826dup" "" "benign" ""
"0000564374" "0" "30" "18" "28667790" "28667791" "ins" "0" "02325" "DSC2_000221" "g.28667790_28667791insT" "" "" "" "DSC2(NM_004949.3):c.631-15_631-14insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087827_31087828insT" "" "likely benign" ""
"0000564375" "0" "70" "18" "28669424" "28669424" "subst" "0.0000121869" "02326" "DSC2_000079" "g.28669424C>T" "" "" "" "DSC2(NM_004949.3):c.608G>A (p.R203H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089461C>T" "" "likely pathogenic" ""
"0000564376" "0" "30" "18" "28669436" "28669436" "subst" "0.0000203107" "01943" "DSC2_000222" "g.28669436C>T" "" "" "" "DSC2(NM_004949.3):c.596G>A (p.R199H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089473C>T" "" "likely benign" ""
"0000564377" "0" "50" "18" "28669515" "28669515" "subst" "0.00000812717" "01943" "DSC2_000223" "g.28669515T>C" "" "" "" "DSC2(NM_004949.3):c.517A>G (p.I173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089552T>C" "" "VUS" ""
"0000564378" "0" "30" "18" "28669570" "28669570" "subst" "0.00000410065" "02327" "DSC2_000224" "g.28669570T>C" "" "" "" "DSC2(NM_004949.3):c.475-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089607T>C" "" "likely benign" ""
"0000564379" "0" "30" "18" "28671040" "28671040" "subst" "0.00000406372" "02326" "DSC2_000225" "g.28671040C>G" "" "" "" "DSC2(NM_004949.3):c.425G>C (p.C142S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091077C>G" "" "likely benign" ""
"0000564380" "0" "30" "18" "28671068" "28671068" "subst" "0.000060994" "02327" "DSC2_000169" "g.28671068C>T" "" "" "" "DSC2(NM_004949.3):c.397G>A (p.A133T), DSC2(NM_024422.4):c.397G>A (p.A133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091105C>T" "" "likely benign" ""
"0000564381" "0" "50" "18" "28671071" "28671071" "subst" "0.0000365946" "02327" "DSC2_000075" "g.28671071G>A" "" "" "" "DSC2(NM_004949.3):c.394C>T (p.R132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091108G>A" "" "VUS" ""
"0000564382" "0" "10" "18" "28671095" "28671095" "subst" "0.00183065" "02330" "DSC2_000226" "g.28671095G>A" "" "" "" "DSC2(NM_004949.3):c.370C>T (p.H124Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091132G>A" "" "benign" ""
"0000564383" "0" "50" "18" "28671095" "28671095" "subst" "0.00183065" "02326" "DSC2_000226" "g.28671095G>A" "" "" "" "DSC2(NM_004949.3):c.370C>T (p.H124Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091132G>A" "" "VUS" ""
"0000564384" "0" "30" "18" "28671113" "28671113" "subst" "0" "02327" "DSC2_000227" "g.28671113C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091150C>T" "" "likely benign" ""
"0000564385" "0" "10" "18" "28672067" "28672067" "subst" "0.00841612" "02327" "DSC2_000004" "g.28672067T>C" "" "" "" "DSC2(NM_004949.3):c.351A>G (p.T117=), DSC2(NM_024422.4):c.351A>G (p.T117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092104T>C" "" "benign" ""
"0000564386" "0" "30" "18" "28672070" "28672070" "subst" "0.000280892" "01943" "DSC2_000140" "g.28672070T>C" "" "" "" "DSC2(NM_004949.3):c.348A>G (p.Q116=), DSC2(NM_024422.4):c.348A>G (p.Q116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092107T>C" "" "likely benign" ""
"0000564387" "0" "30" "18" "28672070" "28672070" "subst" "0.000280892" "02327" "DSC2_000140" "g.28672070T>C" "" "" "" "DSC2(NM_004949.3):c.348A>G (p.Q116=), DSC2(NM_024422.4):c.348A>G (p.Q116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092107T>C" "" "likely benign" ""
"0000564388" "0" "30" "18" "28672114" "28672114" "subst" "0.000752908" "02327" "DSC2_000003" "g.28672114C>T" "" "" "" "DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092151C>T" "" "likely benign" ""
"0000564389" "0" "30" "18" "28672148" "28672148" "subst" "0.000500627" "02327" "DSC2_000173" "g.28672148C>T" "" "" "" "DSC2(NM_004949.3):c.270G>A (p.E90=), DSC2(NM_024422.4):c.270G>A (p.E90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092185C>T" "" "likely benign" ""
"0000564390" "0" "30" "18" "28672152" "28672152" "subst" "0.0000854805" "02327" "DSC2_000070" "g.28672152G>A" "" "" "" "DSC2(NM_004949.3):c.266C>T (p.S89L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092189G>A" "" "likely benign" ""
"0000564391" "0" "50" "18" "28672208" "28672208" "subst" "0" "02330" "DSC2_000032" "g.28672208G>T" "" "" "" "DSC2(NM_004949.3):c.210C>A (p.D70E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092245G>T" "" "VUS" ""
"0000564392" "0" "30" "18" "28672246" "28672246" "subst" "0.000118105" "02326" "DSC2_000068" "g.28672246A>C" "" "" "" "DSC2(NM_004949.3):c.172T>G (p.F58V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092283A>C" "" "likely benign" ""
"0000564393" "0" "50" "18" "28673527" "28673527" "subst" "0.000032505" "01943" "DSC2_000228" "g.28673527C>T" "" "" "" "DSC2(NM_004949.3):c.149G>A (p.G50D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31093564C>T" "" "VUS" ""
"0000564394" "0" "10" "18" "28673565" "28673565" "subst" "0.114547" "02327" "DSC2_000002" "g.28673565T>C" "" "" "" "DSC2(NM_004949.3):c.111A>G (p.L37=), DSC2(NM_024422.4):c.111A>G (p.L37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31093602T>C" "" "benign" ""
"0000564395" "0" "30" "18" "28673625" "28673628" "del" "0" "02327" "DSC2_000229" "g.28673625_28673628del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31093662_31093665del" "" "likely benign" ""
"0000564396" "0" "10" "18" "28681837" "28681837" "subst" "0.00319027" "02327" "DSC1_000003" "g.28681837C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101874C>T" "" "benign" ""
"0000564397" "0" "30" "18" "28681889" "28681889" "subst" "0" "02327" "DSC2_000177" "g.28681889G>T" "" "" "" "DSC2(NM_024422.4):c.46C>A (p.R16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101926G>T" "" "likely benign" ""
"0000564398" "0" "30" "18" "28681901" "28681901" "subst" "0.000186078" "02330" "DSC1_000004" "g.28681901C>T" "" "" "" "DSC2(NM_004949.3):c.34G>A (p.G12R), DSC2(NM_024422.4):c.34G>A (p.G12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101938C>T" "" "likely benign" ""
"0000564399" "0" "50" "18" "28681901" "28681901" "subst" "0.000186078" "01943" "DSC1_000004" "g.28681901C>T" "" "" "" "DSC2(NM_004949.3):c.34G>A (p.G12R), DSC2(NM_024422.4):c.34G>A (p.G12R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101938C>T" "" "VUS" ""
"0000564400" "0" "10" "18" "28681903" "28681903" "subst" "0.0136759" "02327" "DSC2_000001" "g.28681903T>C" "" "" "" "DSC2(NM_004949.3):c.32A>G (p.N11S, p.(Asn11Ser)), DSC2(NM_024422.4):c.32A>G (p.N11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101940T>C" "" "benign" ""
"0000564401" "0" "50" "18" "28681912" "28681912" "subst" "0.0000769112" "02330" "DSC2_000064" "g.28681912C>A" "" "" "" "DSC2(NM_004949.3):c.23G>T (p.G8V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101949C>A" "" "VUS" ""
"0000564403" "0" "30" "18" "28681912" "28681912" "subst" "0.0000769112" "02325" "DSC2_000064" "g.28681912C>A" "" "" "" "DSC2(NM_004949.3):c.23G>T (p.G8V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101949C>A" "" "likely benign" ""
"0000564404" "0" "30" "18" "28681912" "28681912" "subst" "0.0000769112" "02326" "DSC2_000064" "g.28681912C>A" "" "" "" "DSC2(NM_004949.3):c.23G>T (p.G8V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101949C>A" "" "likely benign" ""
"0000564405" "0" "30" "18" "28681931" "28681931" "subst" "0.000105519" "02327" "DSC2_000063" "g.28681931C>T" "" "" "" "DSC2(NM_004949.3):c.4G>A (p.E2K), DSC2(NM_024422.5):c.4G>A (p.E2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101968C>T" "" "likely benign" ""
"0000617021" "0" "10" "18" "28648001" "28648002" "dup" "0" "02327" "DSC2_000127" "g.28648001_28648002dup" "" "" "" "DSC2(NM_024422.4):c.2686_2687dupGA (p.A897Kfs*4), DSC2(NM_024422.5):c.2684delCinsCAG (p.A897Kfs*4), DSC2(NM_024422.5):c.2686_2687dupGA (p.A897Kfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068035_31068036dup" "" "benign" ""
"0000617022" "0" "50" "18" "28648096" "28648096" "subst" "0.0000244129" "02327" "DSC2_000180" "g.28648096G>A" "" "" "" "DSC2(NM_024422.5):c.2591C>T (p.S864L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068130G>A" "" "VUS" ""
"0000617023" "0" "50" "18" "28648171" "28648171" "subst" "0" "02327" "DSC2_000230" "g.28648171T>C" "" "" "" "DSC2(NM_024422.5):c.2516A>G (p.Y839C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068205T>C" "" "VUS" ""
"0000617024" "0" "30" "18" "28648970" "28648970" "subst" "0.0000487924" "02327" "DSC2_000231" "g.28648970C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069004C>A" "" "likely benign" ""
"0000617025" "0" "30" "18" "28649082" "28649082" "subst" "0.0000691754" "01943" "DSC2_000049" "g.28649082G>A" "" "" "" "DSC2(NM_024422.4):c.2286C>T (p.G762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069116G>A" "" "likely benign" ""
"0000617026" "0" "30" "18" "28650748" "28650748" "subst" "0.00117044" "01943" "DSC2_000021" "g.28650748A>C" "" "" "" "DSC2(NM_004949.3):c.2194T>G (p.L732V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070782A>C" "" "likely benign" ""
"0000617027" "0" "30" "18" "28650748" "28650748" "subst" "0.00117044" "02327" "DSC2_000021" "g.28650748A>C" "" "" "" "DSC2(NM_004949.3):c.2194T>G (p.L732V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070782A>C" "" "likely benign" ""
"0000617028" "0" "30" "18" "28651658" "28651658" "subst" "0.00000814021" "02327" "DSC2_000134" "g.28651658G>T" "" "" "" "DSC2(NM_004949.3):c.2038C>A (p.R680S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31071692G>T" "" "likely benign" ""
"0000617029" "0" "30" "18" "28654749" "28654749" "subst" "0.000113872" "02327" "DSC2_000233" "g.28654749C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074783C>T" "" "likely benign" ""
"0000617030" "0" "30" "18" "28654750" "28654750" "subst" "0.00122439" "01943" "DSC2_000044" "g.28654750G>A" "" "" "" "DSC2(NM_004949.3):c.1787C>T (p.A596V), DSC2(NM_024422.4):c.1787C>T (p.A596V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074784G>A" "" "likely benign" ""
"0000617031" "0" "30" "18" "28654771" "28654771" "subst" "0.000065083" "02325" "DSC2_000208" "g.28654771A>G" "" "" "" "DSC2(NM_004949.3):c.1766T>C (p.M589T), DSC2(NM_024422.4):c.1766T>C (p.M589T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074805A>G" "" "likely benign" ""
"0000617032" "0" "50" "18" "28654816" "28654816" "subst" "0.0000650867" "02327" "DSC2_000037" "g.28654816C>T" "" "" "" "DSC2(NM_004949.3):c.1721G>A (p.S574N), DSC2(NM_024422.4):c.1721G>A (p.S574N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074850C>T" "" "VUS" ""
"0000617033" "0" "10" "18" "28660232" "28660232" "subst" "0.00310412" "02327" "DSC2_000096" "g.28660232T>C" "" "" "" "DSC2(NM_004949.3):c.1350A>G (p.R450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080266T>C" "" "benign" ""
"0000617034" "0" "30" "18" "28660247" "28660247" "subst" "0" "02327" "DSC2_000234" "g.28660247T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080281T>G" "" "likely benign" ""
"0000617035" "0" "70" "18" "28663027" "28663027" "subst" "0" "02327" "DSC2_000034" "g.28663027C>T" "" "" "" "DSC2(NM_004949.3):c.943-1G>A, DSC2(NM_024422.4):c.943-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31083061C>T" "" "likely pathogenic" ""
"0000617036" "0" "50" "18" "28666536" "28666536" "subst" "0.00000812539" "02327" "DSC2_000089" "g.28666536T>C" "" "" "" "DSC2(NM_004949.3):c.942+3A>G, DSC2(NM_024422.4):c.942+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086573T>C" "" "VUS" ""
"0000617037" "0" "30" "18" "28666574" "28666574" "subst" "0.0010967" "02327" "DSC2_000088" "g.28666574C>T" "" "" "" "DSC2(NM_004949.3):c.907G>A (p.V303M), DSC2(NM_024422.4):c.907G>A (p.V303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086611C>T" "" "likely benign" ""
"0000617038" "0" "30" "18" "28666611" "28666611" "subst" "0.000024371" "02326" "DSC2_000161" "g.28666611T>C" "" "" "" "DSC2(NM_004949.3):c.870A>G (p.P290=), DSC2(NM_024422.4):c.870A>G (p.P290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086648T>C" "" "likely benign" ""
"0000617039" "0" "30" "18" "28666679" "28666679" "subst" "0.000154455" "02327" "DSC2_000122" "g.28666679T>C" "" "" "" "DSC2(NM_004949.3):c.802A>G (p.T268A), DSC2(NM_024422.4):c.802A>G (p.T268A), DSC2(NM_024422.5):c.802A>G (p.T268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086716T>C" "" "likely benign" ""
"0000617040" "0" "90" "18" "28667778" "28667778" "subst" "0.0000162614" "02327" "DSC2_000006" "g.28667778T>C" "" "" "" "DSC2(NM_024422.4):c.631-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087815T>C" "" "pathogenic" ""
"0000617041" "0" "70" "18" "28671046" "28671046" "del" "0" "02330" "DSC2_000236" "g.28671046del" "" "" "" "DSC2(NM_004949.3):c.420delT (p.P141Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091083del" "" "likely pathogenic" ""
"0000617042" "0" "30" "18" "28671068" "28671068" "subst" "0.000060994" "01943" "DSC2_000169" "g.28671068C>T" "" "" "" "DSC2(NM_004949.3):c.397G>A (p.A133T), DSC2(NM_024422.4):c.397G>A (p.A133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091105C>T" "" "likely benign" ""
"0000617043" "0" "30" "18" "28672091" "28672091" "subst" "0.0000366393" "02327" "DSC2_000073" "g.28672091T>C" "" "" "" "DSC2(NM_004949.3):c.327A>G (p.I109M), DSC2(NM_024422.4):c.327A>G (p.I109M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092128T>C" "" "likely benign" ""
"0000617044" "0" "30" "18" "28672117" "28672117" "subst" "0" "02327" "DSC2_000237" "g.28672117T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092154T>C" "" "likely benign" ""
"0000617045" "0" "50" "18" "28672192" "28672192" "subst" "0" "02325" "DSC2_000238" "g.28672192C>T" "" "" "" "DSC2(NM_004949.3):c.226G>A (p.D76N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092229C>T" "" "VUS" ""
"0000617046" "0" "70" "18" "28681915" "28681915" "dup" "0" "02327" "DSC1_000008" "g.28681915dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31101952dup" "" "likely pathogenic" ""
"0000617047" "0" "50" "18" "28728482" "28728482" "subst" "0" "02325" "DSC1_000009" "g.28728482C>G" "" "" "" "DSC1(NM_004948.3):c.751G>C (p.V251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31148519C>G" "" "VUS" ""
"0000623820" "0" "30" "18" "28648100" "28648100" "subst" "0.000276553" "01943" "DSC2_000181" "g.28648100C>T" "" "" "" "DSC2(NM_024422.4):c.2587G>A (p.G863R), DSC2(NM_024422.5):c.2587G>A (p.G863R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068134C>T" "" "likely benign" ""
"0000623821" "0" "50" "18" "28648922" "28648922" "subst" "0.00000813068" "02325" "DSC2_000105" "g.28648922C>T" "" "" "" "DSC2(NM_004949.3):c.2446G>A (p.V816M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068956C>T" "" "VUS" ""
"0000623822" "0" "30" "18" "28648976" "28648976" "subst" "0.0000284629" "02326" "DSC2_000232" "g.28648976G>A" "" "" "" "DSC2(NM_004949.3):c.2392C>T (p.R798W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31069010G>A" "" "likely benign" ""
"0000623823" "0" "50" "18" "28650697" "28650697" "subst" "0.0000203217" "02330" "DSC2_000190" "g.28650697T>G" "" "" "" "DSC2(NM_004949.3):c.2245A>C (p.K749Q), DSC2(NM_024422.4):c.2245A>C (p.K749Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31070731T>G" "" "VUS" ""
"0000623824" "0" "30" "18" "28654762" "28654762" "subst" "0.000150511" "02330" "DSC2_000098" "g.28654762G>A" "" "" "" "DSC2(NM_004949.3):c.1775C>T (p.A592V), DSC2(NM_024422.5):c.1775C>T (p.A592V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074796G>A" "" "likely benign" ""
"0000623825" "0" "50" "18" "28654771" "28654771" "subst" "0.000065083" "02330" "DSC2_000208" "g.28654771A>G" "" "" "" "DSC2(NM_004949.3):c.1766T>C (p.M589T), DSC2(NM_024422.4):c.1766T>C (p.M589T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31074805A>G" "" "VUS" ""
"0000623826" "0" "10" "18" "28666599" "28666599" "subst" "0" "02330" "DSC2_000235" "g.28666599T>C" "" "" "" "DSC2(NM_004949.3):c.882A>G (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086636T>C" "" "benign" ""
"0000623827" "0" "50" "18" "28666679" "28666679" "subst" "0.000154455" "02325" "DSC2_000122" "g.28666679T>C" "" "" "" "DSC2(NM_004949.3):c.802A>G (p.T268A), DSC2(NM_024422.4):c.802A>G (p.T268A), DSC2(NM_024422.5):c.802A>G (p.T268A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086716T>C" "" "VUS" ""
"0000623828" "0" "10" "18" "28669570" "28669570" "subst" "0.00000410065" "02330" "DSC2_000224" "g.28669570T>C" "" "" "" "DSC2(NM_004949.3):c.475-13A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089607T>C" "" "benign" ""
"0000623829" "0" "30" "18" "28672114" "28672114" "subst" "0.000752908" "01943" "DSC2_000003" "g.28672114C>T" "" "" "" "DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31092151C>T" "" "likely benign" ""
"0000649784" "1" "50" "18" "28650804" "28650804" "subst" "0.0000609687" "03575" "DSC2_000239" "g.28650804G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs180863872}" "Germline" "" "rs180863872" "0" "" "" "g.31070838G>A" "" "VUS" ""
"0000649785" "1" "50" "18" "28672067" "28672067" "subst" "0.00841612" "03575" "DSC2_000004" "g.28672067T>C" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; {DB:CLININrs117812913}" "Germline" "" "rs117812913" "0" "" "" "g.31092104T>C" "" "VUS" ""
"0000658335" "0" "50" "18" "28648171" "28648171" "subst" "0" "02325" "DSC2_000230" "g.28648171T>C" "" "" "" "DSC2(NM_024422.5):c.2516A>G (p.Y839C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31068205T>C" "" "VUS" ""
"0000658336" "0" "30" "18" "28660313" "28660313" "subst" "0.000130503" "01943" "DSC2_000212" "g.28660313C>T" "" "" "" "DSC2(NM_004949.3):c.1269G>A (p.L423=), DSC2(NM_024422.4):c.1269G>A (p.L423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31080347C>T" "" "likely benign" ""
"0000658337" "0" "50" "18" "28662950" "28662950" "subst" "0.0000528808" "02326" "DSC2_000240" "g.28662950G>T" "" "" "" "DSC2(NM_004949.3):c.1019C>A (p.T340N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31082984G>T" "" "VUS" ""
"0000658338" "0" "30" "18" "28666574" "28666574" "subst" "0.0010967" "01943" "DSC2_000088" "g.28666574C>T" "" "" "" "DSC2(NM_004949.3):c.907G>A (p.V303M), DSC2(NM_024422.4):c.907G>A (p.V303M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31086611C>T" "" "likely benign" ""
"0000658339" "0" "10" "18" "28667657" "28667657" "subst" "0.0000407063" "02330" "DSC2_000241" "g.28667657A>G" "" "" "" "DSC2(NM_004949.3):c.750T>C (p.F250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31087694A>G" "" "benign" ""
"0000658340" "0" "10" "18" "28669444" "28669444" "subst" "0" "02330" "DSC2_000165" "g.28669444A>G" "" "" "" "DSC2(NM_004949.3):c.588T>C (p.Y196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31089481A>G" "" "benign" ""
"0000658341" "0" "50" "18" "28671037" "28671037" "subst" "0.000012192" "01943" "DSC2_000242" "g.28671037G>A" "" "" "" "DSC2(NM_024422.4):c.428C>T (p.S143L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31091074G>A" "" "VUS" ""
"0000670169" "0" "50" "18" "28648290" "28648291" "del" "0" "01164" "DSC2_000246" "g.28648290_28648291del" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual. reason: last exon, not in critical region, variant removes <10% of the protein" "Germline" "?" "" "" "" "" "g.31068324_31068325del" "" "VUS" "ACMG"
"0000670170" "0" "50" "18" "28681933" "28681933" "subst" "0" "01164" "DSC2_000245" "g.28681933A>T" "" "" "" "" "this variant was detected as an incidental finding, but not reported back to the individual. Reason: start lost variant not a known pathomechanism in DSC2" "Germline" "?" "" "" "" "" "g.31101970A>T" "" "VUS" "ACMG"
"0000670171" "0" "70" "18" "28681901" "28681901" "subst" "0" "01164" "DSC2_000244" "g.28681901C>A" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.31101938C>A" "" "likely pathogenic" "ACMG"
"0000670172" "0" "70" "18" "28654760" "28654760" "subst" "0" "01164" "DSC2_000243" "g.28654760C>A" "" "" "" "" "this variant was detected and reported as an incidental finding" "Germline" "?" "" "" "" "" "g.31074794C>A" "" "likely pathogenic" "ACMG"
"0000681112" "0" "30" "18" "28667786" "28667786" "subst" "0.00000406835" "02326" "DSC2_000043" "g.28667786G>A" "" "" "" "DSC2(NM_004949.3):c.631-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000681113" "0" "30" "18" "28667787" "28667787" "dup" "0" "02327" "DSC2_000247" "g.28667787dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000681114" "0" "30" "18" "28667788" "28667788" "del" "0" "02327" "DSC2_000248" "g.28667788del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000681115" "0" "10" "18" "28681903" "28681903" "subst" "0.0136759" "01804" "DSC2_000001" "g.28681903T>C" "" "" "" "DSC2(NM_004949.3):c.32A>G (p.N11S, p.(Asn11Ser)), DSC2(NM_024422.4):c.32A>G (p.N11S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000684801" "0" "30" "18" "28648998" "28649000" "del" "0.00130148" "00004" "DSC2_000050" "g.28648998_28649000del" "frequency 0.021" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.31069032_31069034del" "" "likely benign" ""
"0000686163" "1" "90" "18" "28667778" "28667778" "subst" "0.0000162614" "00006" "DSC2_000006" "g.28667778T>C" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000692558" "0" "50" "18" "28649011" "28649011" "subst" "0.0000447355" "01943" "DSC2_000249" "g.28649011A>G" "" "" "" "DSC2(NM_024422.4):c.2357T>C (p.M786T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692559" "0" "30" "18" "28651592" "28651592" "subst" "0.0000243986" "02326" "DSC2_000133" "g.28651592A>G" "" "" "" "DSC2(NM_004949.3):c.2104T>C (p.L702=), DSC2(NM_024422.4):c.2104T>C (p.L702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692560" "0" "30" "18" "28651677" "28651677" "subst" "0.000468539" "01943" "DSC2_000250" "g.28651677G>A" "" "" "" "DSC2(NM_024422.4):c.2019C>T (p.T673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692561" "0" "30" "18" "28654808" "28654808" "subst" "0.000272508" "02326" "DSC2_000038" "g.28654808T>C" "" "" "" "DSC2(NM_004949.3):c.1729A>G (p.I577V), DSC2(NM_024422.4):c.1729A>G (p.I577V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692562" "0" "50" "18" "28662283" "28662283" "del" "0" "02330" "DSC2_000251" "g.28662283del" "" "" "" "DSC2(NM_004949.3):c.1187delT (p.L396*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692563" "0" "50" "18" "28662344" "28662344" "subst" "0" "02325" "DSC2_000252" "g.28662344G>T" "" "" "" "DSC2(NM_024422.5):c.1123C>A (p.R375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692564" "0" "50" "18" "28662347" "28662347" "subst" "0" "02325" "DSC2_000253" "g.28662347A>C" "" "" "" "DSC2(NM_024422.5):c.1120T>G (p.L374V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692565" "0" "30" "18" "28673540" "28673540" "subst" "0.000097515" "02326" "DSC2_000067" "g.28673540C>T" "" "" "" "DSC2(NM_004949.3):c.136G>A (p.E46K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692566" "0" "70" "18" "28681901" "28681901" "subst" "0" "02326" "DSC2_000244" "g.28681901C>A" "" "" "" "DSC2(NM_004949.3):c.34G>T (p.G12*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000700613" "0" "50" "18" "28666682" "28666682" "subst" "0.00000406494" "00006" "DSC2_000257" "g.28666682C>G" "1/304 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31086719C>G" "" "VUS" ""
"0000700747" "0" "50" "18" "28672219" "28672219" "subst" "0" "00006" "DSC2_000260" "g.28672219T>C" "1/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31092256T>C" "" "VUS" ""
"0000700748" "0" "50" "18" "28669413" "28669413" "subst" "0.0000121869" "00006" "DSC2_000259" "g.28669413C>G" "1/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31089450C>G" "" "VUS" ""
"0000700749" "0" "50" "18" "28669402" "28669402" "subst" "0" "00006" "DSC2_000258" "g.28669402C>G" "1/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31089439C>G" "" "VUS" ""
"0000700750" "0" "50" "18" "28662317" "28662317" "subst" "0" "00006" "DSC2_000256" "g.28662317C>G" "1/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31082351C>G" "" "VUS" ""
"0000700751" "0" "50" "18" "28654771" "28654771" "subst" "0.000065083" "00006" "DSC2_000208" "g.28654771A>G" "1/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31074805A>G" "" "VUS" ""
"0000700752" "0" "70" "18" "28651758" "28651758" "subst" "0.00000407342" "00006" "DSC2_000255" "g.28651758A>C" "2/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31071792A>C" "" "likely pathogenic" ""
"0000700753" "0" "50" "18" "28650790" "28650790" "subst" "0" "00006" "DSC2_000103" "g.28650790C>T" "1/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31070824C>T" "" "VUS" ""
"0000700754" "0" "50" "18" "28648972" "28648972" "subst" "0" "00006" "DSC2_000254" "g.28648972C>T" "1/351 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31069006C>T" "" "VUS" ""
"0000701517" "0" "50" "18" "28648922" "28648922" "subst" "0.00000813068" "00006" "DSC2_000105" "g.28648922C>T" "1/123 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31068956C>T" "" "VUS" ""
"0000704359" "0" "50" "18" "28671071" "28671071" "subst" "0.0000365946" "00006" "DSC2_000075" "g.28671071G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.31091108G>A" "" "VUS" "ACMG"
"0000726841" "0" "30" "18" "28654762" "28654762" "subst" "0.000150511" "02326" "DSC2_000098" "g.28654762G>A" "" "" "" "DSC2(NM_004949.3):c.1775C>T (p.A592V), DSC2(NM_024422.5):c.1775C>T (p.A592V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726842" "0" "30" "18" "28659917" "28659917" "subst" "0.000219605" "02326" "DSC2_000261" "g.28659917A>G" "" "" "" "DSC2(NM_004949.3):c.1559T>C (p.I520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726843" "0" "50" "18" "28662274" "28662274" "subst" "0" "01943" "DSC2_000262" "g.28662274C>A" "" "" "" "DSC2(NM_024422.4):c.1193G>T (p.G398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726844" "0" "50" "18" "28662951" "28662951" "subst" "0.0000325423" "02330" "DSC2_000056" "g.28662951T>C" "" "" "" "DSC2(NM_004949.3):c.1018A>G (p.T340A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726845" "0" "10" "18" "28666708" "28666708" "subst" "0.00000408173" "02330" "DSC2_000263" "g.28666708A>G" "" "" "" "DSC2(NM_004949.3):c.776-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000726846" "0" "90" "18" "28667778" "28667778" "subst" "0.0000162614" "01943" "DSC2_000006" "g.28667778T>C" "" "" "" "DSC2(NM_024422.4):c.631-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000726847" "0" "50" "18" "28681931" "28681931" "subst" "0.000105519" "02330" "DSC2_000063" "g.28681931C>T" "" "" "" "DSC2(NM_004949.3):c.4G>A (p.E2K), DSC2(NM_024422.5):c.4G>A (p.E2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000808421" "0" "30" "18" "28648051" "28648051" "subst" "0.00021131" "02326" "DSC2_000196" "g.28648051T>C" "" "" "" "DSC2(NM_024422.4):c.2636A>G (p.D879G), DSC2(NM_024422.5):c.2636A>G (p.D879G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808422" "0" "30" "18" "28648870" "28648870" "subst" "0.000138617" "01943" "DSC2_000109" "g.28648870C>T" "" "" "" "DSC2(NM_004949.3):c.2498G>A (p.R833H), DSC2(NM_024422.4):c.2498G>A (p.R833H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808423" "0" "30" "18" "28654775" "28654775" "subst" "0" "01943" "DSC2_000264" "g.28654775T>A" "" "" "" "DSC2(NM_024422.4):c.1762A>T (p.T588S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808424" "0" "50" "18" "28662275" "28662275" "subst" "0" "02326" "DSC2_000265" "g.28662275C>T" "" "" "" "DSC2(NM_024422.5):c.1192G>A (p.G398S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000808425" "0" "50" "18" "28666645" "28666645" "subst" "0.0000162528" "02325" "DSC2_000266" "g.28666645C>T" "" "" "" "DSC2(NM_024422.5):c.836G>A (p.R279H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000808426" "0" "30" "18" "28666717" "28666717" "subst" "0.0000164272" "02326" "DSC2_000081" "g.28666717A>C" "" "" "" "DSC2(NM_024422.5):c.776-12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808427" "0" "50" "18" "28681931" "28681931" "subst" "0.000105519" "02325" "DSC2_000063" "g.28681931C>T" "" "" "" "DSC2(NM_004949.3):c.4G>A (p.E2K), DSC2(NM_024422.5):c.4G>A (p.E2K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855228" "0" "30" "18" "28648051" "28648051" "subst" "0.00021131" "01943" "DSC2_000196" "g.28648051T>C" "" "" "" "DSC2(NM_024422.4):c.2636A>G (p.D879G), DSC2(NM_024422.5):c.2636A>G (p.D879G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855229" "0" "50" "18" "28648312" "28648312" "subst" "0" "02327" "DSC2_000267" "g.28648312T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855230" "0" "70" "18" "28648899" "28648899" "del" "0" "02327" "DSC2_000268" "g.28648899del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000855231" "0" "30" "18" "28651637" "28651637" "subst" "0.0000366178" "02327" "DSC2_000269" "g.28651637C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855232" "0" "30" "18" "28654748" "28654748" "subst" "0.000166743" "02330" "DSC2_000138" "g.28654748C>A" "" "" "" "DSC2(NM_004949.3):c.1789G>T (p.V597F), DSC2(NM_024422.4):c.1789G>T (p.V597F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855233" "0" "30" "18" "28659917" "28659917" "subst" "0.000219605" "02327" "DSC2_000261" "g.28659917A>G" "" "" "" "DSC2(NM_004949.3):c.1559T>C (p.I520T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855234" "0" "30" "18" "28662380" "28662380" "subst" "0" "02327" "DSC2_000270" "g.28662380A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855235" "0" "50" "18" "28663010" "28663010" "subst" "0" "02325" "DSC2_000151" "g.28663010T>G" "" "" "" "DSC2(NM_004949.3):c.959A>C (p.Q320P), DSC2(NM_024422.5):c.959A>C (p.Q320P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855236" "0" "30" "18" "28666624" "28666624" "subst" "0.0000934496" "02327" "DSC2_000119" "g.28666624C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855237" "0" "30" "18" "28667779" "28667779" "subst" "0" "02325" "DSC2_000272" "g.28667779G>A" "" "" "" "DSC2(NM_024422.5):c.631-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855238" "0" "30" "18" "28669394" "28669394" "subst" "0.0000203171" "02327" "DSC2_000273" "g.28669394G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855239" "0" "30" "18" "28669405" "28669405" "subst" "0.0000162504" "02327" "DSC2_000046" "g.28669405A>G" "" "" "" "DSC2(NM_004949.3):c.627T>C (p.F209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855240" "0" "30" "18" "28669485" "28669485" "subst" "0.0000365708" "02327" "DSC2_000274" "g.28669485G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855241" "0" "50" "18" "28669505" "28669505" "subst" "0.00000406339" "02326" "DSC2_000275" "g.28669505G>A" "" "" "" "DSC2(NM_024422.5):c.527C>T (p.P176L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000865639" "0" "30" "18" "28648071" "28648071" "subst" "0.00050801" "02326" "DSC2_000179" "g.28648071G>A" "" "" "" "DSC2(NM_024422.5):c.2616C>T (p.C872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865640" "0" "50" "18" "28648171" "28648171" "subst" "0" "02330" "DSC2_000230" "g.28648171T>C" "" "" "" "DSC2(NM_024422.5):c.2516A>G (p.Y839C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000865641" "0" "90" "18" "28662985" "28662988" "dup" "0" "01943" "DSC2_000271" "g.28662985_28662988dup" "" "" "" "DSC2(NM_024422.4):c.981_984dupCATG (p.D329Hfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000865642" "0" "50" "18" "28666627" "28666627" "subst" "0.000146271" "01943" "DSC2_000178" "g.28666627A>G" "" "" "" "DSC2(NM_004949.3):c.854T>C (p.I285T), DSC2(NM_024422.4):c.854T>C (p.I285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes DSC2
## Count = 495
"{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}"
"0000036013" "00006702" "55" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "?" ""
"0000095230" "00006702" "50" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "" ""
"0000095271" "00006702" "50" "2731" "0" "2732" "0" "c.*187_*188insAG" "r.(?)" "p.(?)" "16" ""
"0000095273" "00006702" "50" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "" ""
"0000095351" "00006702" "50" "2731" "0" "2732" "0" "c.*187_*188insAG" "r.(?)" "p.(?)" "16" ""
"0000095449" "00006702" "50" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Ala763Thr)" "" ""
"0000095477" "00006702" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" ""
"0000095485" "00006702" "50" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" ""
"0000095549" "00006702" "50" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.(?)" "10i" ""
"0000095616" "00006702" "50" "2731" "0" "2732" "0" "c.*187_*188insAG" "r.(?)" "p.(?)" "16" ""
"0000095623" "00006702" "50" "2731" "0" "2732" "0" "c.*187_*188insAG" "r.(?)" "p.(?)" "16" ""
"0000095633" "00006702" "50" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Ser89Leu)" "" ""
"0000095661" "00006702" "50" "2731" "0" "2732" "0" "c.*187_*188insAG" "r.(?)" "p.(?)" "16" ""
"0000095699" "00006702" "50" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ala596Val)" "" ""
"0000095714" "00006702" "50" "857" "0" "857" "0" "c.857G>T" "r.(?)" "p.(Gly286Val)" "" ""
"0000095791" "00006702" "50" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "9i" ""
"0000218482" "00006702" "50" "1395" "0" "1395" "0" "c.1395G>C" "r.(?)" "p.(Gln465His)" "" ""
"0000247499" "00006702" "10" "2104" "0" "2104" "0" "c.2104T>C" "r.(?)" "p.(Leu702=)" "" ""
"0000247505" "00006702" "10" "70" "-11" "70" "-11" "c.70-11del" "r.(=)" "p.(=)" "" ""
"0000247520" "00006702" "10" "627" "0" "627" "0" "c.627T>C" "r.(?)" "p.(Phe209=)" "" ""
"0000247537" "00006702" "30" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Phe58Val)" "" ""
"0000247541" "00006702" "50" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Ile285Thr)" "" ""
"0000250988" "00006702" "10" "70" "-11" "70" "-11" "c.70-11del" "r.(=)" "p.(=)" "" ""
"0000252305" "00006702" "30" "1888" "67" "1888" "67" "c.1888+67del" "r.(=)" "p.(=)" "" ""
"0000252306" "00006702" "30" "355" "-272" "355" "-272" "c.355-272del" "r.(=)" "p.(=)" "" ""
"0000254147" "00006702" "30" "2104" "0" "2104" "0" "c.2104T>C" "r.(?)" "p.(Leu702=)" "" ""
"0000255156" "00006702" "30" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(Tyr196=)" "" ""
"0000265451" "00006702" "10" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" ""
"0000265452" "00006702" "10" "111" "0" "111" "0" "c.111A>G" "r.(?)" "p.(Leu37=)" "" ""
"0000265453" "00006702" "10" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "" ""
"0000265454" "00006702" "10" "1350" "0" "1350" "0" "c.1350A>G" "r.(?)" "p.(Arg450=)" "" ""
"0000265455" "00006702" "50" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Glu46Lys)" "" ""
"0000265456" "00006702" "10" "1520" "8" "1520" "8" "c.1520+8C>G" "r.(=)" "p.(=)" "" ""
"0000265457" "00006702" "10" "1521" "-7" "1521" "-7" "c.1521-7C>T" "r.(=)" "p.(=)" "" ""
"0000265458" "00006702" "30" "153" "0" "153" "0" "c.153A>G" "r.(?)" "p.(Arg51=)" "" ""
"0000265459" "00006702" "10" "1548" "0" "1548" "0" "c.1548G>T" "r.(?)" "p.(Gly516=)" "" ""
"0000265460" "00006702" "50" "1729" "0" "1729" "0" "c.1729A>G" "r.(?)" "p.(Ile577Val)" "" ""
"0000265461" "00006702" "30" "1759" "0" "1759" "0" "c.1759C>A" "r.(?)" "p.(Pro587Thr)" "" ""
"0000265462" "00006702" "10" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634His)" "" ""
"0000265463" "00006702" "50" "2229" "0" "2229" "0" "c.2229A>C" "r.(?)" "p.(Glu743Asp)" "" ""
"0000265464" "00006702" "10" "2250" "12" "2250" "12" "c.2250+12G>T" "r.(=)" "p.(=)" "" ""
"0000265465" "00006702" "50" "2298" "0" "2298" "0" "c.2298G>C" "r.(?)" "p.(Gln766His)" "" ""
"0000265466" "00006702" "30" "2303" "0" "2308" "0" "c.2303_2308del" "r.(?)" "p.(Val768_Cys769del)" "" ""
"0000265467" "00006702" "10" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "" ""
"0000265468" "00006702" "10" "2368" "0" "2370" "0" "c.2368_2370del" "r.(?)" "p.(Gly790del)" "" ""
"0000265469" "00006702" "10" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" "" ""
"0000265470" "00006702" "30" "2498" "0" "2498" "0" "c.2498G>A" "r.(?)" "p.(Arg833His)" "" ""
"0000265471" "00006702" "10" "2509" "-21" "2509" "-20" "c.2509-21_2509-20del" "r.(=)" "p.(=)" "" ""
"0000265472" "00006702" "50" "2633" "0" "2633" "0" "c.*89G>A" "r.(=)" "p.(=)" "" ""
"0000265473" "00006702" "50" "2637" "0" "2637" "0" "c.*93C>T" "r.(=)" "p.(=)" "" ""
"0000265474" "00006702" "10" "2662" "0" "2662" "0" "c.*118C>T" "r.(=)" "p.(=)" "" ""
"0000265475" "00006702" "30" "2699" "0" "2702" "0" "c.*155_*158del" "r.(=)" "p.(=)" "" ""
"0000265476" "00006702" "50" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Ser89Leu)" "" ""
"0000265478" "00006702" "10" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Glu90=)" "" ""
"0000265479" "00006702" "50" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Ile96Val)" "" ""
"0000265480" "00006702" "50" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Ile109Met)" "" ""
"0000265481" "00006702" "10" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "" ""
"0000265482" "00006702" "10" "348" "0" "348" "0" "c.348A>G" "r.(?)" "p.(Gln116=)" "" ""
"0000265483" "00006702" "10" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Thr117=)" "" ""
"0000265484" "00006702" "50" "408" "0" "408" "0" "c.408A>G" "r.(?)" "p.(Arg136=)" "" ""
"0000265486" "00006702" "50" "776" "-1" "776" "-1" "c.776-1G>A" "r.spl?" "p.?" "" ""
"0000265487" "00006702" "50" "82" "0" "82" "0" "c.82G>T" "r.(?)" "p.(Ala28Ser)" "" ""
"0000265488" "00006702" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" ""
"0000265489" "00006702" "10" "870" "0" "870" "0" "c.870A>G" "r.(?)" "p.(Pro290=)" "" ""
"0000265490" "00006702" "50" "898" "0" "898" "0" "c.898A>G" "r.(?)" "p.(Thr300Ala)" "" ""
"0000265491" "00006702" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" ""
"0000265492" "00006702" "10" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "" ""
"0000265493" "00006702" "10" "942" "12" "942" "13" "c.942+12_942+13insTTA" "r.(=)" "p.(=)" "" ""
"0000265495" "00006702" "50" "959" "0" "959" "0" "c.959A>C" "r.(?)" "p.(Gln320Pro)" "" ""
"0000267523" "00006702" "10" "111" "0" "111" "0" "c.111A>G" "r.(?)" "p.(Leu37=)" "" ""
"0000267524" "00006702" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Ala441Thr)" "" ""
"0000267525" "00006702" "50" "1340" "0" "1340" "0" "c.1340C>A" "r.(?)" "p.(Ala447Asp)" "" ""
"0000267526" "00006702" "30" "1350" "0" "1350" "0" "c.1350A>G" "r.(?)" "p.(Arg450=)" "" ""
"0000267527" "00006702" "30" "1371" "0" "1371" "0" "c.1371A>G" "r.(?)" "p.(Thr457=)" "" ""
"0000267528" "00006702" "70" "2125" "1" "2125" "1" "c.2125+1del" "r.spl?" "p.?" "" ""
"0000267529" "00006702" "70" "2125" "4" "2125" "4" "c.2125+4del" "r.spl?" "p.?" "" ""
"0000267530" "00006702" "50" "2126" "0" "2126" "0" "c.2126G>C" "r.(?)" "p.(Cys709Ser)" "" ""
"0000267531" "00006702" "30" "2259" "0" "2259" "0" "c.2259G>A" "r.(?)" "p.(Ala753=)" "" ""
"0000267532" "00006702" "10" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "" ""
"0000267533" "00006702" "50" "2328" "0" "2328" "0" "c.2328C>G" "r.(?)" "p.(Ile776Met)" "" ""
"0000267534" "00006702" "10" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" "" ""
"0000267535" "00006702" "30" "2662" "0" "2662" "0" "c.*118C>T" "r.(=)" "p.(=)" "" ""
"0000267536" "00006702" "30" "2732" "0" "2733" "0" "c.*188_*189dup" "r.(=)" "p.(=)" "" ""
"0000267539" "00006702" "30" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Glu90=)" "" ""
"0000267540" "00006702" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" ""
"0000267541" "00006702" "10" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "" ""
"0000267542" "00006702" "10" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Thr117=)" "" ""
"0000267543" "00006702" "30" "355" "-18" "355" "-18" "c.355-18C>T" "r.(=)" "p.(=)" "" ""
"0000267544" "00006702" "50" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" ""
"0000267545" "00006702" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "" ""
"0000267546" "00006702" "30" "474" "15" "474" "15" "c.474+15C>T" "r.(=)" "p.(=)" "" ""
"0000267548" "00006702" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" ""
"0000267549" "00006702" "10" "942" "12" "942" "13" "c.942+12_942+13insTTA" "r.(=)" "p.(=)" "" ""
"0000270893" "00006702" "30" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" ""
"0000270894" "00006702" "10" "111" "0" "111" "0" "c.111A>G" "r.(?)" "p.(Leu37=)" "" ""
"0000270895" "00006702" "30" "1350" "0" "1350" "0" "c.1350A>G" "r.(?)" "p.(Arg450=)" "" ""
"0000270896" "00006702" "30" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Thr500=)" "" ""
"0000270897" "00006702" "50" "2038" "0" "2038" "0" "c.2038C>A" "r.(?)" "p.(Arg680Ser)" "" ""
"0000270898" "00006702" "70" "2125" "1" "2125" "1" "c.2125+1del" "r.spl?" "p.?" "" ""
"0000270899" "00006702" "10" "2251" "-27" "2251" "-27" "c.2251-27C>A" "r.(=)" "p.(=)" "" ""
"0000270900" "00006702" "10" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "" ""
"0000270901" "00006702" "30" "2368" "0" "2370" "0" "c.2368_2370del" "r.(?)" "p.(Gly790del)" "" ""
"0000270902" "00006702" "10" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" "" ""
"0000270903" "00006702" "50" "2716" "0" "2716" "0" "c.*172A>C" "r.(=)" "p.(=)" "" ""
"0000270904" "00006702" "70" "2716" "0" "2716" "0" "c.*172A>T" "r.(=)" "p.(=)" "" ""
"0000270906" "00006702" "30" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Glu90=)" "" ""
"0000270907" "00006702" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" ""
"0000270908" "00006702" "10" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "" ""
"0000270909" "00006702" "30" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Thr117=)" "" ""
"0000270910" "00006702" "70" "587" "0" "587" "0" "c.587A>G" "r.(?)" "p.(Tyr196Cys)" "" ""
"0000270911" "00006702" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" ""
"0000270912" "00006702" "30" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "" ""
"0000270914" "00006702" "10" "942" "11" "942" "11" "c.942+11C>T" "r.(=)" "p.(=)" "" ""
"0000270916" "00006702" "30" "942" "13" "942" "13" "c.942+13A>T" "r.(=)" "p.(=)" "" ""
"0000275530" "00006702" "30" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" ""
"0000275531" "00006702" "10" "111" "0" "111" "0" "c.111A>G" "r.(?)" "p.(Leu37=)" "" ""
"0000275532" "00006702" "50" "1231" "0" "1231" "0" "c.1231A>G" "r.(?)" "p.(Lys411Glu)" "" ""
"0000275533" "00006702" "10" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "" ""
"0000275534" "00006702" "30" "1350" "0" "1350" "0" "c.1350A>G" "r.(?)" "p.(Arg450=)" "" ""
"0000275535" "00006702" "30" "1371" "0" "1371" "0" "c.1371A>G" "r.(?)" "p.(Thr457=)" "" ""
"0000275536" "00006702" "30" "1521" "-7" "1521" "-7" "c.1521-7C>T" "r.(=)" "p.(=)" "" ""
"0000275537" "00006702" "30" "1789" "0" "1789" "0" "c.1789G>T" "r.(?)" "p.(Val597Phe)" "" ""
"0000275538" "00006702" "30" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Arg634His)" "" ""
"0000275539" "00006702" "30" "1989" "0" "1989" "0" "c.1989A>C" "r.(?)" "p.(Ser663=)" "" ""
"0000275540" "00006702" "50" "2245" "0" "2245" "0" "c.2245A>C" "r.(?)" "p.(Lys749Gln)" "" ""
"0000275541" "00006702" "10" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "" ""
"0000275542" "00006702" "50" "2328" "0" "2328" "0" "c.2328C>G" "r.(?)" "p.(Ile776Met)" "" ""
"0000275543" "00006702" "10" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" "" ""
"0000275544" "00006702" "30" "2463" "0" "2463" "0" "c.2463C>T" "r.(?)" "p.(Tyr821=)" "" ""
"0000275545" "00006702" "50" "2474" "0" "2474" "0" "c.2474A>G" "r.(?)" "p.(Glu825Gly)" "" ""
"0000275546" "00006702" "30" "2555" "-21" "2555" "-20" "c.*11-21_*11-20del" "r.(=)" "p.(=)" "" ""
"0000275548" "00006702" "30" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Glu90=)" "" ""
"0000275549" "00006702" "50" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Ile109Met)" "" ""
"0000275550" "00006702" "10" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "" ""
"0000275551" "00006702" "10" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Thr117=)" "" ""
"0000275552" "00006702" "30" "46" "0" "46" "0" "c.46C>A" "r.(?)" "p.(Arg16=)" "" ""
"0000275553" "00006702" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" ""
"0000275554" "00006702" "30" "870" "0" "870" "0" "c.870A>G" "r.(?)" "p.(Pro290=)" "" ""
"0000275555" "00006702" "30" "928" "0" "928" "0" "c.928C>G" "r.(?)" "p.(Gln310Glu)" "" ""
"0000275556" "00006702" "10" "942" "12" "942" "13" "c.942+12_942+13insTTA" "r.(=)" "p.(=)" "" ""
"0000368301" "00006702" "50" "942" "3" "942" "3" "c.942+3A>G" "r.spl?" "p.?" "7i" ""
"0000441309" "00006702" "11" "775" "91" "775" "91" "c.775+91C>G" "r.(?)" "p.(=)" "6i" ""
"0000441310" "00006702" "11" "775" "92" "775" "92" "c.775+92C>T" "r.(?)" "p.(=)" "6i" ""
"0000441311" "00006702" "11" "943" "-21" "943" "-21" "c.943-21A>C" "r.(?)" "p.(=)" "7i" ""
"0000441312" "00006702" "11" "1663" "89" "1663" "89" "c.1663+89A>G" "r.(?)" "p.(=)" "11i" ""
"0000441313" "00006702" "11" "1889" "-93" "1889" "-93" "c.1889-93A>G" "r.(?)" "p.(=)" "12i" ""
"0000441314" "00006702" "11" "2251" "-49" "2251" "-49" "c.2251-49T>C" "r.(?)" "p.(=)" "14i" ""
"0000441315" "00006702" "11" "2251" "-98" "2251" "-98" "c.2251-98T>C" "r.(?)" "p.(=)" "14i" ""
"0000441316" "00006702" "15" "2328" "0" "2328" "0" "c.2328C>G" "r.(?)" "p.(Ile776Met)" "15" "Cytoplasmic"
"0000441317" "00006702" "15" "2359" "0" "2359" "0" "c.2359G>A" "r.(?)" "p.(Val787Met)" "15" "Cytoplasmic"
"0000441318" "00006702" "15" "2373" "0" "2373" "0" "c.2373C>A" "r.(?)" "p.(His791Asn)" "15" "Cytoplasmic"
"0000441319" "00006702" "15" "2381" "0" "2381" "0" "c.2381C>T" "r.(?)" "p.(Ser794Leu)" "15" "Cytoplasmic"
"0000441320" "00006702" "11" "2509" "-22" "2509" "-22" "c.2509-22G>A" "r.(?)" "p.(=)" "15i" ""
"0000441321" "00006702" "11" "942" "12" "942" "13" "c.942+12_942+13insTTA" "r.(?)" "p.(=)" "7i" ""
"0000441465" "00006702" "11" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "1" "signal peptide"
"0000441466" "00006702" "11" "111" "0" "111" "0" "c.111A>G" "r.(?)" "p.(=)" "2" "propeptide"
"0000441467" "00006702" "95" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "3" "propeptide"
"0000441468" "00006702" "11" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(=)" "3" "propeptide"
"0000441469" "00006702" "11" "631" "-13" "631" "-13" "c.631-13A>G" "r.(?)" "p.(=)" "5i" ""
"0000441470" "00006702" "99" "631" "-2" "631" "-2" "c.631-2A>G" "r.spl" "p.(Ile211Metfs*11)" "5i" "Cadherin 1"
"0000441471" "00006702" "55" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "7" "Cadherin 2"
"0000441472" "00006702" "11" "924" "0" "924" "0" "c.924A>T" "r.(?)" "p.(=)" "7" "Cadherin 2"
"0000441473" "00006702" "95" "1034" "0" "1034" "0" "c.1034T>C" "r.(?)" "p.(Ile345Thr)" "8" "Cadherin 2"
"0000441474" "00006702" "95" "1048" "0" "1048" "0" "c.1048G>T" "r.(?)" "p.(Asp350Tyr)" "8" "Cadherin 2"
"0000441475" "00006702" "11" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "8" "Cadherin 3"
"0000441476" "00006702" "99" "1430" "0" "1430" "0" "c.1430del" "r.(?)" "p.(Thr477Metfs*4)" "10" "Cadherin 4"
"0000441477" "00006702" "55" "1807" "0" "1807" "0" "c.1807A>C" "r.(?)" "p.(Ile603Leu)" "12" "Cadherin 5"
"0000441478" "00006702" "95" "1808" "0" "1808" "0" "c.1808T>C" "r.(?)" "p.(Ile603Thr)" "12" "Cadherin 5"
"0000441479" "00006702" "99" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Ser614Ilefs*12)" "12" "Cadherin 5"
"0000441480" "00006702" "95" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "14" "Cytoplasmic"
"0000441481" "00006702" "55" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "14" "Cytoplasmic"
"0000441482" "00006702" "11" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "15" "Cytoplasmic"
"0000441483" "00006702" "11" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "15" "Cytoplasmic"
"0000441484" "00006702" "11" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" "15" "Cytoplasmic"
"0000441485" "00006702" "95" "2686" "0" "2687" "0" "c.2686_2687dup" "r.(?)" "p.(Ala897Lysfs*3)" "16" "Cytoplasmic"
"0000441486" "00006702" "55" "2686" "0" "2687" "0" "c.2686_2687dup" "r.(?)" "p.(Ala897Lysfs*3)" "16" "Cytoplasmic"
"0000441487" "00006702" "95" "2686" "0" "2687" "0" "c.2686_2687dup" "r.(?)" "p.(Ala897Lysfs*3)" "16" "Cytoplasmic"
"0000441488" "00006702" "15" "2686" "0" "2687" "0" "c.2686_2687dup" "r.(?)" "p.(Ala897Lysfs*3)" "16" "Cytoplasmic"
"0000441489" "00006702" "95" "2686" "0" "2687" "0" "c.2686_2687dup" "r.(?)" "p.(Ala897Lysfs*3)" "16" "Cytoplasmic"
"0000441490" "00006702" "55" "210" "0" "210" "0" "c.210C>A" "r.(?)" "p.(Asp70Glu)" "3" "propeptide"
"0000441491" "00006702" "11" "475" "-76" "475" "-76" "c.475-76G>C" "r.(?)" "p.(=)" "4i" ""
"0000441492" "00006702" "99" "943" "-1" "943" "-1" "c.943-1G>A" "r.spl" "p.?" "7i" "Caherin 2"
"0000441493" "00006702" "11" "1078" "-31" "1078" "-31" "c.1078-31C>T" "r.(?)" "p.(=)" "8i" ""
"0000441494" "00006702" "11" "1078" "-40" "1078" "-40" "c.1078-40A>T" "r.(?)" "p.(=)" "8i" ""
"0000441495" "00006702" "55" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Ser574Asn)" "12" "Cadherin 4"
"0000441496" "00006702" "55" "1729" "0" "1729" "0" "c.1729A>G" "r.(?)" "p.(Ile577Val)" "12" "Cadherin 4"
"0000441497" "00006702" "11" "2251" "-27" "2251" "-27" "c.2251-27C>A" "r.(?)" "p.(=)" "14i" ""
"0000441498" "00006702" "11" "2251" "-20" "2251" "-20" "c.2251-20G>A" "r.(?)" "p.(=)" "14i" ""
"0000441499" "00006702" "55" "2590" "0" "2590" "0" "c.*46A>T" "r.(?)" "p.(=)" "16" ""
"0000441500" "00006702" "99" "133" "0" "133" "0" "c.133del" "r.(?)" "p.(Ala45Profs*10)" "2" "propeptide"
"0000441501" "00006702" "99" "133" "0" "133" "0" "c.133del" "r.(?)" "p.(Ala45Profs*10)" "2" "propeptide"
"0000441502" "00006702" "55" "631" "-10" "631" "-10" "c.631-10C>T" "r.(?)" "p.(=)" "5i" ""
"0000441503" "00006702" "11" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ala596Val)" "12" "Cadherin 5"
"0000441504" "00006702" "11" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(Gln638His)" "13" "Cadherin 5"
"0000441505" "00006702" "55" "627" "0" "627" "0" "c.627T>C" "r.(?)" "p.(=)" "5" "Cadherin 1"
"0000441506" "00006702" "11" "631" "-29" "631" "-29" "c.631-29C>G" "r.(?)" "p.(=)" "5i" ""
"0000441507" "00006702" "11" "1263" "38" "1263" "38" "c.1263+38A>G" "r.(?)" "p.(=)" "9i" ""
"0000441508" "00006702" "55" "2286" "0" "2286" "0" "c.2286C>T" "r.(?)" "p.(=)" "15" "Cytoplasmic"
"0000441509" "00006702" "55" "2368" "0" "2370" "0" "c.2368_2370del" "r.(?)" "p.(Gly790del)" "15" "Cytoplasmic"
"0000441510" "00006702" "55" "2494" "0" "2494" "0" "c.2494C>A" "r.(?)" "p.(Pro832Thr)" "15" "Cytoplasmic"
"0000441511" "00006702" "55" "2587" "0" "2587" "0" "c.2587G>A" "r.(?)" "p.(Gly863Arg)" "16" "Cytoplasmic"
"0000441512" "00006702" "99" "96" "0" "96" "0" "c.96del" "r.(?)" "p.(Cys32*)" "2" "propeptide"
"0000441513" "00006702" "95" "692" "0" "692" "0" "c.692T>C" "r.(?)" "p.(Ile231Thr)" "6" "Cadherin 1"
"0000441514" "00006702" "95" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Thr340Ala)" "8" "Cadherin 2"
"0000441515" "00006702" "95" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Pro292Ser)" "7" "Cadherin 2"
"0000441516" "00006702" "95" "1026" "0" "1026" "0" "c.1026A>G" "r.(?)" "p.(Ile342Val)" "8" "Cadherin 2"
"0000441517" "00006702" "99" "1660" "0" "1660" "0" "c.1660C>T" "r.(?)" "p.(Gln554*)" "11" "Cadherin 4"
"0000441518" "00006702" "11" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(Asp179Gly)" "5" "Cadherin 1"
"0000441519" "00006702" "11" "-58" "0" "-58" "0" "c.-58G>A" "r.(?)" "p.(=)" "1" ""
"0000441520" "00006702" "11" "-36" "0" "-36" "0" "c.-36C>G" "r.(?)" "p.(=)" "2" ""
"0000441521" "00006702" "99" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "1" "Signal peptide"
"0000441522" "00006702" "55" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Gly8Val)" "1" "Signal peptide"
"0000441523" "00006702" "55" "0" "0" "0" "0" "c.34G>H" "r.(?)" "p.(Gly12Arg)" "1" "Signal peptide sequence"
"0000441524" "00006702" "11" "69" "30" "69" "30" "c.69+30del" "r.(?)" "p.(=)" "1i" ""
"0000441525" "00006702" "55" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Glu46Lys)" "2" "propeptide"
"0000441526" "00006702" "55" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Phe58Val)" "3" "propeptide"
"0000441527" "00006702" "99" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Gly77Ser)" "3" "propeptide"
"0000441528" "00006702" "55" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Ser89L)" "3" "propeptide"
"0000441529" "00006702" "55" "271" "0" "272" "0" "c.271_272insCAAT" "r.(?)" "p.(Lys91Thrfs*13)" "3" "propeptide"
"0000441530" "00006702" "99" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Ile96Thr)" "3" "propeptide"
"0000441531" "00006702" "55" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Ile109Met)" "3" "propeptide"
"0000441532" "00006702" "99" "341" "0" "341" "0" "c.341del" "r.(?)" "p.(Glu114Glyfs*7)" "3" "propeptide"
"0000441533" "00006702" "99" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "3" "propeptide"
"0000441534" "00006702" "99" "449" "0" "449" "0" "c.449G>C" "r.(?)" "p.(Gly150Ala)" "4" "Cadherin 1"
"0000441535" "00006702" "99" "565" "0" "565" "0" "c.565G>C" "r.(?)" "p.(Glu189Gln)" "5" "Cadherin 1"
"0000441536" "00006702" "11" "582" "0" "582" "0" "c.582C>G" "r.(?)" "p.(Asn194Lys)" "5" "Cadherin 1"
"0000441537" "00006702" "99" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "5" "Cadherin 1"
"0000441538" "00006702" "99" "607" "0" "607" "0" "c.607C>T" "r.(?)" "p.(Arg203Cys)" "5" "Cadherin 1"
"0000441539" "00006702" "11" "776" "-12" "776" "-12" "c.776-12T>G" "r.(?)" "p.(=)" "5i" ""
"0000441540" "00006702" "11" "631" "-13" "631" "-13" "c.631-13dup" "r.(?)" "p.(=)" "5i" ""
"0000441541" "00006702" "99" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Arg)" "6" "Cadherin 1"
"0000441542" "00006702" "99" "685" "0" "685" "0" "c.685del" "r.(?)" "p.(Leu229*)" "6" "Cadherin 1"
"0000441543" "00006702" "99" "712" "0" "714" "0" "c.712_714del" "r.(?)" "p.(Asp238del)" "6" "Cadherin 1"
"0000441544" "00006702" "55" "734" "0" "734" "0" "c.734A>C" "r.(?)" "p.(Glu245Ala)" "6" "Cadherin 2"
"0000441545" "00006702" "99" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Thr275Met)" "7" "Cadherin 2"
"0000441546" "00006702" "55" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "7" "Cadherin 2"
"0000441547" "00006702" "99" "942" "3" "942" "3" "c.942+3A>G" "r.spl?" "p.?" "7i" "Cadherin 2"
"0000441548" "00006702" "99" "1112" "0" "1113" "0" "c.1112_1113del" "r.(?)" "p.(Val371Gfs*8)" "9" "Cadherin 3"
"0000441549" "00006702" "99" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375*)" "9" "Cadherin 3"
"0000441550" "00006702" "55" "1140" "0" "1140" "0" "c.1140T>G" "r.(?)" "p.(Asp380Glu)" "9" "Cadherin 3"
"0000441551" "00006702" "99" "1234" "0" "1234" "0" "c.1234dup" "r.(?)" "p.(Thr412AsnfsTer3)" "9" "Cadherin 3"
"0000441552" "00006702" "55" "1280" "0" "1280" "0" "c.1280A>G" "r.(?)" "p.(Glu427Gly)" "10" "Cadherin 3"
"0000441553" "00006702" "11" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(Gly436=)" "10" "Cadherin 3"
"0000441554" "00006702" "11" "1350" "0" "1350" "0" "c.1350A>G" "r.(?)" "p.(Arg450=)" "10" "Cadherin 4"
"0000441555" "00006702" "99" "1521" "0" "1521" "0" "c.1521G>A" "r.spl?" "p.(Arg507=)" "11" "Cadherin 4"
"0000441556" "00006702" "55" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ala592Val)" "12" "Cadherin 5"
"0000441557" "00006702" "55" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Gly605Asp)" "12" "Cadherin 5"
"0000441558" "00006702" "11" "1888" "51" "1888" "51" "c.1888+51G>A" "r.(?)" "p.(=)" "12i" ""
"0000441559" "00006702" "11" "1889" "-48" "1889" "-48" "c.1889-48A>T" "r.(?)" "p.(=)" "12i" ""
"0000441560" "00006702" "99" "1913" "0" "1916" "0" "c.1913_1916del" "r.(?)" "p.(Gln638Leufs*10)" "13" "Cadherin 5"
"0000441561" "00006702" "55" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Ala718Thr)" "14" "Cytoplasmic"
"0000441562" "00006702" "55" "2384" "0" "2384" "0" "c.2384A>G" "r.(?)" "p.(Glu795Gly)" "15" "Cytoplasmic"
"0000441563" "00006702" "11" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Val816Met)" "15" ""
"0000441564" "00006702" "55" "2470" "0" "2470" "0" "c.2470T>G" "r.(?)" "p.(Ser824Ala)" "15" "Cytoplasmic"
"0000441565" "00006702" "99" "2471" "0" "2471" "0" "c.2471C>T" "r.(?)" "p.(Ser824Leu)" "15" "Cytoplasmic"
"0000441566" "00006702" "55" "2497" "0" "2497" "0" "c.2497C>T" "r.(?)" "p.(Arg833Cys)" "15" "Cytoplasmic"
"0000441567" "00006702" "55" "2498" "0" "2498" "0" "c.2498G>A" "r.(?)" "p.(Arg833His)" "15" "Cytolasmic"
"0000441568" "00006702" "99" "2508" "5" "2508" "5" "c.2508+5G>A" "r.spl?" "p.?" "15i" "Cytoplasmic"
"0000441569" "00006702" "99" "2553" "0" "2553" "0" "c.2553del" "r.(?)" "p.(Asp852Thrfs*4)" "16" "Cytoplasmic"
"0000441570" "00006702" "55" "2603" "0" "2603" "0" "c.2603C>T" "r.(?)" "p.(Ser868Phe)" "16" "Cytoplasmic"
"0000441571" "00006702" "55" "2636" "0" "2636" "0" "c.2636A>G" "r.(?)" "p.(Asp879Gly)" "16" "Cytoplasmic"
"0000441572" "00006702" "55" "799" "0" "799" "0" "c.799G>T" "r.(?)" "p.(Ala267Ser))" "7" ""
"0000442465" "00006702" "90" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(Gln638His)" "" ""
"0000564278" "00006702" "10" "2885" "0" "2885" "0" "c.*341G>A" "r.(=)" "p.(=)" "" ""
"0000564279" "00006702" "10" "2732" "0" "2733" "0" "c.*188_*189dup" "r.(=)" "p.(=)" "" ""
"0000564280" "00006702" "10" "2732" "0" "2733" "0" "c.*188_*189dup" "r.(=)" "p.(=)" "" ""
"0000564281" "00006702" "10" "2732" "0" "2733" "0" "c.*188_*189dup" "r.(=)" "p.(=)" "" ""
"0000564283" "00006702" "30" "2728" "0" "2729" "0" "c.*184_*185dup" "r.(=)" "p.(=)" "" ""
"0000564284" "00006702" "10" "2682" "0" "2682" "0" "c.*138A>G" "r.(=)" "p.(=)" "" ""
"0000564285" "00006702" "10" "2662" "0" "2662" "0" "c.*118C>T" "r.(=)" "p.(=)" "" ""
"0000564286" "00006702" "50" "2649" "0" "2649" "0" "c.*105C>T" "r.(=)" "p.(=)" "" ""
"0000564287" "00006702" "50" "2633" "0" "2633" "0" "c.*89G>A" "r.(=)" "p.(=)" "" ""
"0000564288" "00006702" "50" "2633" "0" "2633" "0" "c.*89G>A" "r.(=)" "p.(=)" "" ""
"0000564289" "00006702" "50" "2555" "0" "2555" "0" "c.*11A>G" "r.(=)" "p.(=)" "" ""
"0000564290" "00006702" "10" "2555" "-22" "2555" "-22" "c.*11-22G>A" "r.(=)" "p.(=)" "" ""
"0000564291" "00006702" "30" "2509" "-21" "2509" "-20" "c.2509-21_2509-20del" "r.(=)" "p.(=)" "" ""
"0000564292" "00006702" "30" "2498" "0" "2498" "0" "c.2498G>A" "r.(?)" "p.(Arg833His)" "" ""
"0000564293" "00006702" "50" "2414" "0" "2414" "0" "c.2414C>A" "r.(?)" "p.(Thr805Asn)" "" ""
"0000564295" "00006702" "10" "2393" "0" "2393" "0" "c.2393G>A" "r.(?)" "p.(Arg798Gln)" "" ""
"0000564296" "00006702" "70" "2398" "0" "2398" "0" "c.2398del" "r.(?)" "p.(Ala800LeufsTer45)" "" ""
"0000564297" "00006702" "30" "2368" "0" "2370" "0" "c.2368_2370del" "r.(?)" "p.(Gly790del)" "" ""
"0000564298" "00006702" "10" "2326" "0" "2326" "0" "c.2326A>G" "r.(?)" "p.(Ile776Val)" "" ""
"0000564299" "00006702" "30" "2314" "0" "2314" "0" "c.2314G>A" "r.(?)" "p.(Val772Met)" "" ""
"0000564300" "00006702" "30" "2298" "0" "2298" "0" "c.2298G>C" "r.(?)" "p.(Gln766His)" "" ""
"0000564301" "00006702" "30" "2298" "0" "2298" "0" "c.2298G>C" "r.(?)" "p.(Gln766His)" "" ""
"0000564302" "00006702" "30" "2287" "0" "2287" "0" "c.2287G>A" "r.(?)" "p.(Ala763Thr)" "" ""
"0000564303" "00006702" "30" "2251" "-27" "2251" "-27" "c.2251-27C>A" "r.(=)" "p.(=)" "" ""
"0000564304" "00006702" "50" "2218" "0" "2218" "0" "c.2218T>C" "r.(?)" "p.(Ser740Pro)" "" ""
"0000564305" "00006702" "10" "2208" "0" "2208" "0" "c.2208C>T" "r.(?)" "p.(Asn736=)" "" ""
"0000564306" "00006702" "10" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "" ""
"0000564307" "00006702" "30" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "" ""
"0000564308" "00006702" "30" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "" ""
"0000564309" "00006702" "30" "2126" "-20" "2126" "-20" "c.2126-20A>T" "r.(=)" "p.(=)" "" ""
"0000564310" "00006702" "30" "2091" "0" "2091" "0" "c.2091C>T" "r.(?)" "p.(Ile697=)" "" ""
"0000564311" "00006702" "50" "2000" "0" "2000" "0" "c.2000C>A" "r.(?)" "p.(Thr667Lys)" "" ""
"0000564312" "00006702" "30" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(Gln638His)" "" ""
"0000564313" "00006702" "30" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(Gln638His)" "" ""
"0000564314" "00006702" "30" "1914" "0" "1914" "0" "c.1914G>C" "r.(?)" "p.(Gln638His)" "" ""
"0000564315" "00006702" "10" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ala596Val)" "" ""
"0000564316" "00006702" "30" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ala596Val)" "" ""
"0000564317" "00006702" "30" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ala596Val)" "" ""
"0000564318" "00006702" "50" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Met589Thr)" "" ""
"0000564319" "00006702" "30" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Met589Thr)" "" ""
"0000564320" "00006702" "30" "1729" "0" "1729" "0" "c.1729A>G" "r.(?)" "p.(Ile577Val)" "" ""
"0000564321" "00006702" "30" "1729" "0" "1729" "0" "c.1729A>G" "r.(?)" "p.(Ile577Val)" "" ""
"0000564322" "00006702" "50" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Ser574Asn)" "" ""
"0000564323" "00006702" "50" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Ser574Asn)" "" ""
"0000564324" "00006702" "30" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Ser574Asn)" "" ""
"0000564325" "00006702" "30" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Ser574Asn)" "" ""
"0000564326" "00006702" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Asn573=)" "" ""
"0000564327" "00006702" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Asn573=)" "" ""
"0000564328" "00006702" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Asn573=)" "" ""
"0000564329" "00006702" "30" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Asn573=)" "" ""
"0000564330" "00006702" "10" "1719" "0" "1719" "0" "c.1719C>T" "r.(?)" "p.(Asn573=)" "" ""
"0000564331" "00006702" "50" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Gly555Arg)" "" ""
"0000564332" "00006702" "30" "1548" "0" "1548" "0" "c.1548G>T" "r.(?)" "p.(Gly516=)" "" ""
"0000564333" "00006702" "30" "1521" "-7" "1521" "-7" "c.1521-7C>T" "r.(=)" "p.(=)" "" ""
"0000564334" "00006702" "30" "1520" "8" "1520" "8" "c.1520+8C>G" "r.(=)" "p.(=)" "" ""
"0000564335" "00006702" "30" "1395" "0" "1395" "0" "c.1395G>C" "r.(?)" "p.(Gln465His)" "" ""
"0000564336" "00006702" "50" "1375" "0" "1375" "0" "c.1375A>G" "r.(?)" "p.(Thr459Ala)" "" ""
"0000564337" "00006702" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Ala441Thr)" "" ""
"0000564338" "00006702" "10" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Leu423=)" "" ""
"0000564339" "00006702" "10" "1264" "-5" "1264" "-5" "c.1264-5C>T" "r.spl?" "p.?" "" ""
"0000564340" "00006702" "30" "1231" "0" "1231" "0" "c.1231A>G" "r.(?)" "p.(Lys411Glu)" "" ""
"0000564341" "00006702" "70" "1123" "0" "1123" "0" "c.1123C>T" "r.(?)" "p.(Arg375Ter)" "" ""
"0000564342" "00006702" "10" "1078" "-40" "1078" "-40" "c.1078-40A>T" "r.(=)" "p.(=)" "" ""
"0000564343" "00006702" "10" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" ""
"0000564344" "00006702" "30" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Arg357His)" "" ""
"0000564345" "00006702" "90" "943" "-1" "943" "-1" "c.943-1G>A" "r.spl?" "p.?" "" ""
"0000564346" "00006702" "90" "943" "-1" "943" "-1" "c.943-1G>A" "r.spl?" "p.?" "" ""
"0000564347" "00006702" "70" "943" "-1" "943" "-1" "c.943-1G>A" "r.spl?" "p.?" "" ""
"0000564348" "00006702" "90" "943" "-1" "943" "-1" "c.943-1G>A" "r.spl?" "p.?" "" ""
"0000564349" "00006702" "10" "942" "12" "942" "13" "c.942+12_942+13insTTA" "r.(=)" "p.(=)" "" ""
"0000564350" "00006702" "10" "942" "12" "942" "13" "c.942+12_942+13insTTA" "r.(=)" "p.(=)" "" ""
"0000564351" "00006702" "30" "942" "11" "942" "12" "c.942+11_942+12insTA" "r.(=)" "p.(=)" "" ""
"0000564352" "00006702" "10" "942" "11" "942" "12" "c.942+11_942+12insTTA" "r.(=)" "p.(=)" "" ""
"0000564353" "00006702" "10" "942" "10" "942" "11" "c.942+10_942+11insATT" "r.(=)" "p.(=)" "" ""
"0000564354" "00006702" "10" "942" "3" "942" "3" "c.942+3A>G" "r.spl?" "p.?" "" ""
"0000564355" "00006702" "50" "942" "3" "942" "3" "c.942+3A>G" "r.spl?" "p.?" "" ""
"0000564356" "00006702" "30" "942" "3" "942" "3" "c.942+3A>G" "r.spl?" "p.?" "" ""
"0000564357" "00006702" "50" "942" "3" "942" "3" "c.942+3A>G" "r.spl?" "p.?" "" ""
"0000564359" "00006702" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" ""
"0000564360" "00006702" "30" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" ""
"0000564361" "00006702" "50" "901" "0" "901" "0" "c.901A>G" "r.(?)" "p.(Thr301Ala)" "" ""
"0000564362" "00006702" "30" "870" "0" "870" "0" "c.870A>G" "r.(?)" "p.(Pro290=)" "" ""
"0000564363" "00006702" "50" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Pro289Ser)" "" ""
"0000564364" "00006702" "50" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Ile285Thr)" "" ""
"0000564365" "00006702" "50" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Ile285Thr)" "" ""
"0000564366" "00006702" "50" "835" "0" "835" "0" "c.835C>T" "r.(?)" "p.(Arg279Cys)" "" ""
"0000564367" "00006702" "70" "824" "0" "824" "0" "c.824C>T" "r.(?)" "p.(Thr275Met)" "" ""
"0000564368" "00006702" "50" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" ""
"0000564369" "00006702" "50" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" ""
"0000564370" "00006702" "30" "783" "0" "783" "0" "c.783T>G" "r.(?)" "p.(Thr261=)" "" ""
"0000564371" "00006702" "10" "775" "19" "775" "19" "c.775+19A>G" "r.(=)" "p.(=)" "" ""
"0000564372" "00006702" "30" "775" "6" "775" "6" "c.775+6T>C" "r.(=)" "p.(=)" "" ""
"0000564373" "00006702" "10" "631" "-13" "631" "-13" "c.631-13dup" "r.(=)" "p.(=)" "" ""
"0000564374" "00006702" "30" "631" "-15" "631" "-14" "c.631-15_631-14insA" "r.(=)" "p.(=)" "" ""
"0000564375" "00006702" "70" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Arg203His)" "" ""
"0000564376" "00006702" "30" "596" "0" "596" "0" "c.596G>A" "r.(?)" "p.(Arg199His)" "" ""
"0000564377" "00006702" "50" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Ile173Val)" "" ""
"0000564378" "00006702" "30" "475" "-13" "475" "-13" "c.475-13A>G" "r.(=)" "p.(=)" "" ""
"0000564379" "00006702" "30" "425" "0" "425" "0" "c.425G>C" "r.(?)" "p.(Cys142Ser)" "" ""
"0000564380" "00006702" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "" ""
"0000564381" "00006702" "50" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" ""
"0000564382" "00006702" "10" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(His124Tyr)" "" ""
"0000564383" "00006702" "50" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(His124Tyr)" "" ""
"0000564384" "00006702" "30" "355" "-3" "355" "-3" "c.355-3G>A" "r.spl?" "p.?" "" ""
"0000564385" "00006702" "10" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(Thr117=)" "" ""
"0000564386" "00006702" "30" "348" "0" "348" "0" "c.348A>G" "r.(?)" "p.(Gln116=)" "" ""
"0000564387" "00006702" "30" "348" "0" "348" "0" "c.348A>G" "r.(?)" "p.(Gln116=)" "" ""
"0000564388" "00006702" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" ""
"0000564389" "00006702" "30" "270" "0" "270" "0" "c.270G>A" "r.(?)" "p.(Glu90=)" "" ""
"0000564390" "00006702" "30" "266" "0" "266" "0" "c.266C>T" "r.(?)" "p.(Ser89Leu)" "" ""
"0000564391" "00006702" "50" "210" "0" "210" "0" "c.210C>A" "r.(?)" "p.(Asp70Glu)" "" ""
"0000564392" "00006702" "30" "172" "0" "172" "0" "c.172T>G" "r.(?)" "p.(Phe58Val)" "" ""
"0000564393" "00006702" "50" "149" "0" "149" "0" "c.149G>A" "r.(?)" "p.(Gly50Asp)" "" ""
"0000564394" "00006702" "10" "111" "0" "111" "0" "c.111A>G" "r.(?)" "p.(Leu37=)" "" ""
"0000564395" "00006702" "30" "70" "-20" "70" "-17" "c.70-20_70-17del" "r.(=)" "p.(=)" "" ""
"0000564396" "00006702" "10" "69" "29" "69" "29" "c.69+29G>A" "r.(=)" "p.(=)" "" ""
"0000564397" "00006702" "30" "46" "0" "46" "0" "c.46C>A" "r.(?)" "p.(Arg16=)" "" ""
"0000564398" "00006702" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Arg)" "" ""
"0000564399" "00006702" "50" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Gly12Arg)" "" ""
"0000564400" "00006702" "10" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "" ""
"0000564401" "00006702" "50" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Gly8Val)" "" ""
"0000564403" "00006702" "30" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Gly8Val)" "" ""
"0000564404" "00006702" "30" "23" "0" "23" "0" "c.23G>T" "r.(?)" "p.(Gly8Val)" "" ""
"0000564405" "00006702" "30" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "" ""
"0000617021" "00006702" "10" "2732" "0" "2733" "0" "c.*188_*189dup" "r.(=)" "p.(=)" "" ""
"0000617022" "00006702" "50" "2637" "0" "2637" "0" "c.*93C>T" "r.(=)" "p.(=)" "" ""
"0000617023" "00006702" "50" "2562" "0" "2562" "0" "c.*18A>G" "r.(=)" "p.(=)" "" ""
"0000617024" "00006702" "30" "2398" "0" "2398" "0" "c.2398G>T" "r.(?)" "p.(Ala800Ser)" "" ""
"0000617025" "00006702" "30" "2286" "0" "2286" "0" "c.2286C>T" "r.(?)" "p.(Gly762=)" "" ""
"0000617026" "00006702" "30" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "" ""
"0000617027" "00006702" "30" "2194" "0" "2194" "0" "c.2194T>G" "r.(?)" "p.(Leu732Val)" "" ""
"0000617028" "00006702" "30" "2038" "0" "2038" "0" "c.2038C>A" "r.(?)" "p.(Arg680Ser)" "" ""
"0000617029" "00006702" "30" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Ala596=)" "" ""
"0000617030" "00006702" "30" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ala596Val)" "" ""
"0000617031" "00006702" "30" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Met589Thr)" "" ""
"0000617032" "00006702" "50" "1721" "0" "1721" "0" "c.1721G>A" "r.(?)" "p.(Ser574Asn)" "" ""
"0000617033" "00006702" "10" "1350" "0" "1350" "0" "c.1350A>G" "r.(?)" "p.(Arg450=)" "" ""
"0000617034" "00006702" "30" "1335" "0" "1335" "0" "c.1335A>C" "r.(?)" "p.(Arg445Ser)" "" ""
"0000617035" "00006702" "70" "943" "-1" "943" "-1" "c.943-1G>A" "r.spl?" "p.?" "" ""
"0000617036" "00006702" "50" "942" "3" "942" "3" "c.942+3A>G" "r.spl?" "p.?" "" ""
"0000617037" "00006702" "30" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "" ""
"0000617038" "00006702" "30" "870" "0" "870" "0" "c.870A>G" "r.(?)" "p.(Pro290=)" "" ""
"0000617039" "00006702" "30" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" ""
"0000617040" "00006702" "90" "631" "-2" "631" "-2" "c.631-2A>G" "r.spl?" "p.?" "" ""
"0000617041" "00006702" "70" "420" "0" "420" "0" "c.420del" "r.(?)" "p.(Pro141LeufsTer5)" "" ""
"0000617042" "00006702" "30" "397" "0" "397" "0" "c.397G>A" "r.(?)" "p.(Ala133Thr)" "" ""
"0000617043" "00006702" "30" "327" "0" "327" "0" "c.327A>G" "r.(?)" "p.(Ile109Met)" "" ""
"0000617044" "00006702" "30" "301" "0" "301" "0" "c.301A>G" "r.(?)" "p.(Thr101Ala)" "" ""
"0000617045" "00006702" "50" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Asp76Asn)" "" ""
"0000617046" "00006702" "70" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Gly8ArgfsTer23)" "" ""
"0000617047" "00006702" "50" "-46548" "0" "-46548" "0" "c.-46548G>C" "r.(?)" "p.(=)" "" ""
"0000623820" "00006702" "30" "2633" "0" "2633" "0" "c.*89G>A" "r.(=)" "p.(=)" "" ""
"0000623821" "00006702" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Val816Met)" "" ""
"0000623822" "00006702" "30" "2392" "0" "2392" "0" "c.2392C>T" "r.(?)" "p.(Arg798Trp)" "" ""
"0000623823" "00006702" "50" "2245" "0" "2245" "0" "c.2245A>C" "r.(?)" "p.(Lys749Gln)" "" ""
"0000623824" "00006702" "30" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ala592Val)" "" ""
"0000623825" "00006702" "50" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Met589Thr)" "" ""
"0000623826" "00006702" "10" "882" "0" "882" "0" "c.882A>G" "r.(?)" "p.(Leu294=)" "" ""
"0000623827" "00006702" "50" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" ""
"0000623828" "00006702" "10" "475" "-13" "475" "-13" "c.475-13A>G" "r.(=)" "p.(=)" "" ""
"0000623829" "00006702" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Glu102Lys)" "" ""
"0000649784" "00006702" "50" "2138" "0" "2138" "0" "c.2138C>T" "r.(?)" "p.(Thr713Met)" "" ""
"0000649785" "00006702" "50" "351" "0" "351" "0" "c.351A>G" "r.(=)" "p.(=)" "" ""
"0000658335" "00006702" "50" "2562" "0" "2562" "0" "c.*18A>G" "r.(=)" "p.(=)" "" ""
"0000658336" "00006702" "30" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Leu423=)" "" ""
"0000658337" "00006702" "50" "1019" "0" "1019" "0" "c.1019C>A" "r.(?)" "p.(Thr340Asn)" "" ""
"0000658338" "00006702" "30" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Val303Met)" "" ""
"0000658339" "00006702" "10" "750" "0" "750" "0" "c.750T>C" "r.(?)" "p.(Phe250=)" "" ""
"0000658340" "00006702" "10" "588" "0" "588" "0" "c.588T>C" "r.(?)" "p.(Tyr196=)" "" ""
"0000658341" "00006702" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Ser143Leu)" "" ""
"0000670169" "00006702" "50" "2530" "0" "2531" "0" "c.2530_2531del" "r.(?)" "p.(Leu844Aspfs*2)" "" ""
"0000670170" "00006702" "50" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" ""
"0000670171" "00006702" "70" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12*)" "" ""
"0000670172" "00006702" "70" "1777" "0" "1777" "0" "c.1777G>T" "r.(?)" "p.(Glu593*)" "" ""
"0000681112" "00006702" "30" "631" "-10" "631" "-10" "c.631-10C>T" "r.(=)" "p.(=)" "" ""
"0000681113" "00006702" "30" "631" "-11" "631" "-11" "c.631-11dup" "r.(=)" "p.(=)" "" ""
"0000681114" "00006702" "30" "631" "-12" "631" "-12" "c.631-12del" "r.(=)" "p.(=)" "" ""
"0000681115" "00006702" "10" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Asn11Ser)" "" ""
"0000684801" "00006702" "30" "2368" "0" "2370" "0" "c.2368_2370del" "r.(?)" "p.(Gly790del)" "" ""
"0000686163" "00006702" "90" "631" "-2" "631" "-2" "c.631-2A>G" "r.spl" "p.?" "" ""
"0000692558" "00006702" "50" "2357" "0" "2357" "0" "c.2357T>C" "r.(?)" "p.(Met786Thr)" "" ""
"0000692559" "00006702" "30" "2104" "0" "2104" "0" "c.2104T>C" "r.(?)" "p.(Leu702=)" "" ""
"0000692560" "00006702" "30" "2019" "0" "2019" "0" "c.2019C>T" "r.(?)" "p.(Thr673=)" "" ""
"0000692561" "00006702" "30" "1729" "0" "1729" "0" "c.1729A>G" "r.(?)" "p.(Ile577Val)" "" ""
"0000692562" "00006702" "50" "1187" "0" "1187" "0" "c.1187del" "r.(?)" "p.(Leu396Ter)" "" ""
"0000692563" "00006702" "50" "1123" "0" "1123" "0" "c.1123C>A" "r.(?)" "p.(Arg375=)" "" ""
"0000692564" "00006702" "50" "1120" "0" "1120" "0" "c.1120T>G" "r.(?)" "p.(Leu374Val)" "" ""
"0000692565" "00006702" "30" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Glu46Lys)" "" ""
"0000692566" "00006702" "70" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Gly12Ter)" "" ""
"0000700613" "00006702" "50" "799" "0" "799" "0" "c.799G>C" "r.(?)" "p.(Ala267Pro)" "" ""
"0000700747" "00006702" "50" "199" "0" "199" "0" "c.199A>G" "r.(?)" "p.(Ser67Gly)" "" ""
"0000700748" "00006702" "50" "619" "0" "619" "0" "c.619G>C" "r.(?)" "p.(Glu207Gln)" "" ""
"0000700749" "00006702" "50" "630" "0" "630" "0" "c.630G>C" "r.(?)" "p.(Glu210Asp)" "" ""
"0000700750" "00006702" "50" "1150" "0" "1150" "0" "c.1150G>C" "r.(?)" "p.(Val384Leu)" "" ""
"0000700751" "00006702" "50" "1766" "0" "1766" "0" "c.1766T>C" "r.(?)" "p.(Met589Thr)" "" ""
"0000700752" "00006702" "70" "1938" "0" "1938" "0" "c.1938T>G" "r.(?)" "p.(Tyr646*)" "" ""
"0000700753" "00006702" "50" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Ala718Thr)" "" ""
"0000700754" "00006702" "50" "2396" "0" "2396" "0" "c.2396G>A" "r.(?)" "p.(Gly799Glu)" "" ""
"0000701517" "00006702" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Val816Met)" "" ""
"0000704359" "00006702" "50" "394" "0" "394" "0" "c.394C>T" "r.(?)" "p.(Arg132Cys)" "" ""
"0000726841" "00006702" "30" "1775" "0" "1775" "0" "c.1775C>T" "r.(?)" "p.(Ala592Val)" "" ""
"0000726842" "00006702" "30" "1559" "0" "1559" "0" "c.1559T>C" "r.(?)" "p.(Ile520Thr)" "" ""
"0000726843" "00006702" "50" "1193" "0" "1193" "0" "c.1193G>T" "r.(?)" "p.(Gly398Val)" "" ""
"0000726844" "00006702" "50" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Thr340Ala)" "" ""
"0000726845" "00006702" "10" "776" "-3" "776" "-3" "c.776-3T>C" "r.spl?" "p.?" "" ""
"0000726846" "00006702" "90" "631" "-2" "631" "-2" "c.631-2A>G" "r.spl?" "p.?" "" ""
"0000726847" "00006702" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "" ""
"0000808421" "00006702" "30" "2682" "0" "2682" "0" "c.*138A>G" "r.(=)" "p.(=)" "" ""
"0000808422" "00006702" "30" "2498" "0" "2498" "0" "c.2498G>A" "r.(?)" "p.(Arg833His)" "" ""
"0000808423" "00006702" "30" "1762" "0" "1762" "0" "c.1762A>T" "r.(?)" "p.(Thr588Ser)" "" ""
"0000808424" "00006702" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Gly398Ser)" "" ""
"0000808425" "00006702" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "" ""
"0000808426" "00006702" "30" "776" "-12" "776" "-12" "c.776-12T>G" "r.(=)" "p.(=)" "" ""
"0000808427" "00006702" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Glu2Lys)" "" ""
"0000855228" "00006702" "30" "2682" "0" "2682" "0" "c.*138A>G" "r.(=)" "p.(=)" "" ""
"0000855229" "00006702" "50" "2509" "-2" "2509" "-2" "c.2509-2A>T" "r.spl?" "p.?" "" ""
"0000855230" "00006702" "70" "2469" "0" "2469" "0" "c.2469del" "r.(?)" "p.(Ser824Argfs*21)" "" ""
"0000855231" "00006702" "30" "2059" "0" "2059" "0" "c.2059G>A" "r.(?)" "p.(Gly687Ser)" "" ""
"0000855232" "00006702" "30" "1789" "0" "1789" "0" "c.1789G>T" "r.(?)" "p.(Val597Phe)" "" ""
"0000855233" "00006702" "30" "1559" "0" "1559" "0" "c.1559T>C" "r.(?)" "p.(Ile520Thr)" "" ""
"0000855234" "00006702" "30" "1087" "0" "1087" "0" "c.1087T>G" "r.(?)" "p.(Ser363Ala)" "" ""
"0000855235" "00006702" "50" "959" "0" "959" "0" "c.959A>C" "r.(?)" "p.(Gln320Pro)" "" ""
"0000855236" "00006702" "30" "857" "0" "857" "0" "c.857G>T" "r.(?)" "p.(Gly286Val)" "" ""
"0000855237" "00006702" "30" "631" "-3" "631" "-3" "c.631-3C>T" "r.spl?" "p.?" "" ""
"0000855238" "00006702" "30" "630" "8" "630" "8" "c.630+8C>T" "r.(=)" "p.(=)" "" ""
"0000855239" "00006702" "30" "627" "0" "627" "0" "c.627T>C" "r.(?)" "p.(Phe209=)" "" ""
"0000855240" "00006702" "30" "547" "0" "547" "0" "c.547C>T" "r.(?)" "p.(Arg183Trp)" "" ""
"0000855241" "00006702" "50" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Pro176Leu)" "" ""
"0000865639" "00006702" "30" "2662" "0" "2662" "0" "c.*118C>T" "r.(=)" "p.(=)" "" ""
"0000865640" "00006702" "50" "2562" "0" "2562" "0" "c.*18A>G" "r.(=)" "p.(=)" "" ""
"0000865641" "00006702" "90" "981" "0" "984" "0" "c.981_984dup" "r.(?)" "p.(Asp329Hisfs*17)" "" ""
"0000865642" "00006702" "50" "854" "0" "854" "0" "c.854T>C" "r.(?)" "p.(Ile285Thr)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 146
"{{screeningid}}" "{{variantid}}"
"0000016264" "0000036013"
"0000064214" "0000095230"
"0000064224" "0000095271"
"0000064225" "0000095273"
"0000064247" "0000095351"
"0000064269" "0000095449"
"0000064279" "0000095477"
"0000064282" "0000095485"
"0000064299" "0000095549"
"0000064319" "0000095616"
"0000064322" "0000095623"
"0000064325" "0000095633"
"0000064334" "0000095661"
"0000064345" "0000095699"
"0000064349" "0000095714"
"0000064399" "0000095791"
"0000129315" "0000218482"
"0000164728" "0000368301"
"0000210107" "0000441465"
"0000210108" "0000441466"
"0000210109" "0000441467"
"0000210110" "0000441468"
"0000210111" "0000441469"
"0000210112" "0000441470"
"0000210113" "0000441471"
"0000210114" "0000441472"
"0000210115" "0000441473"
"0000210116" "0000441474"
"0000210117" "0000441475"
"0000210118" "0000441476"
"0000210119" "0000441477"
"0000210120" "0000441478"
"0000210121" "0000441479"
"0000210122" "0000441480"
"0000210123" "0000441481"
"0000210123" "0000441572"
"0000210124" "0000441482"
"0000210125" "0000441483"
"0000210126" "0000441484"
"0000210127" "0000441485"
"0000210128" "0000441486"
"0000210129" "0000441487"
"0000210130" "0000441488"
"0000210131" "0000441489"
"0000210132" "0000441490"
"0000210133" "0000441491"
"0000210134" "0000441492"
"0000210135" "0000441493"
"0000210136" "0000441494"
"0000210137" "0000441495"
"0000210138" "0000441496"
"0000210139" "0000441497"
"0000210140" "0000441498"
"0000210141" "0000441499"
"0000210142" "0000441500"
"0000210143" "0000441501"
"0000210144" "0000441502"
"0000210145" "0000441503"
"0000210146" "0000441504"
"0000210147" "0000441505"
"0000210148" "0000441506"
"0000210149" "0000441507"
"0000210150" "0000441508"
"0000210151" "0000441509"
"0000210152" "0000441510"
"0000210153" "0000441511"
"0000210154" "0000441512"
"0000210154" "0000441513"
"0000210155" "0000441514"
"0000210156" "0000441515"
"0000210157" "0000441516"
"0000210158" "0000441517"
"0000210159" "0000441518"
"0000210160" "0000441519"
"0000210161" "0000441520"
"0000210162" "0000441521"
"0000210163" "0000441522"
"0000210164" "0000441523"
"0000210165" "0000441524"
"0000210166" "0000441525"
"0000210167" "0000441526"
"0000210168" "0000441527"
"0000210169" "0000441528"
"0000210170" "0000441529"
"0000210171" "0000441530"
"0000210172" "0000441531"
"0000210173" "0000441532"
"0000210174" "0000441533"
"0000210175" "0000441534"
"0000210176" "0000441535"
"0000210177" "0000441536"
"0000210178" "0000441537"
"0000210179" "0000441538"
"0000210180" "0000441539"
"0000210181" "0000441540"
"0000210182" "0000441541"
"0000210183" "0000441542"
"0000210184" "0000441543"
"0000210185" "0000441544"
"0000210186" "0000441545"
"0000210187" "0000441546"
"0000210188" "0000441547"
"0000210189" "0000441548"
"0000210190" "0000441549"
"0000210191" "0000441550"
"0000210192" "0000441551"
"0000210193" "0000441552"
"0000210194" "0000441553"
"0000210195" "0000441554"
"0000210196" "0000441555"
"0000210197" "0000441556"
"0000210198" "0000441557"
"0000210199" "0000441558"
"0000210200" "0000441559"
"0000210201" "0000441560"
"0000210202" "0000441561"
"0000210203" "0000441562"
"0000210204" "0000441563"
"0000210205" "0000441564"
"0000210206" "0000441565"
"0000210207" "0000441566"
"0000210208" "0000441567"
"0000210209" "0000441568"
"0000210210" "0000441569"
"0000210211" "0000441570"
"0000210212" "0000441571"
"0000211050" "0000442465"
"0000293095" "0000649784"
"0000293096" "0000649785"
"0000306481" "0000670169"
"0000306482" "0000670170"
"0000306483" "0000670171"
"0000306484" "0000670172"
"0000309899" "0000684801"
"0000311013" "0000686163"
"0000318007" "0000700613"
"0000318141" "0000700747"
"0000318142" "0000700748"
"0000318143" "0000700749"
"0000318144" "0000700750"
"0000318145" "0000700751"
"0000318146" "0000700752"
"0000318147" "0000700753"
"0000318148" "0000700754"
"0000318911" "0000701517"
"0000321474" "0000704359"