### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ACTN2) # 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}}" "ACTN2" "actinin, alpha 2" "1" "q42-q43" "no" "NG_009081.1" "UD_132118661703" "" "https://www.LOVD.nl/ACTN2" "" "1" "164" "88" "102573" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ACTN2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-04-14 00:00:00" "00006" "2019-10-26 14:33:05" "00000" "2025-07-29 15:00:02" ## 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}}" "00024136" "ACTN2" "transcript variant 1" "003" "NM_001103.3" "" "NP_001094.1" "" "" "" "-220" "4697" "2685" "236849754" "236927931" "00006" "2016-05-19 19:08:09" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "01227" "CMD1A" "cardiomyopathy, dilated, type 1A (CMD-1A)" "AD" "115200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03094" "CMD1AA;CMH23" "cardiomyopathy, dilated, type 1AA (CMD-1AA, cardiomyopathy, hypertrophic, type 23 (CMH-23))" "AD" "612158" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-03 14:15:18" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05158" "ARVC" "cardiomyopathy, ventricular, right, arrhythmogenic (ARVC)" "" "" "" "" "" "00006" "2016-04-19 22:00:09" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "05712" "MPD6" "myopathy, distal, type 6, adult onset (MPD6)" "AD" "618655" "" "" "" "00006" "2020-03-29 14:07:02" "00006" "2020-05-03 14:13:55" "05713" "MYOCOZ" "myopathy, congenital with structured cores and Z-line abnormalitie (MYOCOZ)" "AD" "618654" "" "" "" "00006" "2020-03-29 14:08:06" "00006" "2020-05-03 14:14:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ACTN2" "03094" "ACTN2" "05712" "ACTN2" "05713" ## Individuals ## Do not remove or alter this header ## ## Count = 270 "{{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" "" "00065128" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y02m" "0" "" "" "Europe" "SIDS050" "00073728" "" "" "" "1" "" "00006" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "M" "" "" "" "0" "" "" "" "" "00104008" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-167A" "00128452" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "223" "00128479" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "269" "00128490" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "288" "00163898" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "?" "" "Netherlands" "" "0" "yes" "" "" "" "00226223" "" "" "" "4" "" "02588" "{PMID:Fan 2018:30630173}" "3-generation family, proband and affected brother (53y), son (22y) and niece (27y). Mother (52y) had sudden cardiac death." "-" "?" "China" "" "0" "" "" "" "30630173-proband-fam" "00265774" "" "" "" "1" "" "00006" "Savarese WMS2019, O20" "family" "" "" "Spain" "" "0" "" "" "Basque" "Fam1" "00265775" "" "" "" "1" "" "00006" "Savarese WMS2019, O20" "family" "" "" "Spain" "" "0" "" "" "Basque" "Fam2" "00265776" "" "" "" "1" "" "00006" "Savarese WMS2019, O20" "family" "" "" "Spain" "" "0" "" "" "Basque" "Fam3" "00265777" "" "" "" "1" "" "00006" "{PMID:Savarese:30900782}" "family" "" "no" "Sweden" "" "0" "" "" "" "Fam4" "00265778" "" "" "" "2" "" "00006" "Savarese WMS2019, O20" "family, affected father/son" "M" "" "Spain" "" "0" "" "" "" "Fam5" "00289764" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289765" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295111" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295239" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295625" "" "" "" "1" "" "03453" "{PMID:Lornage 2019:30701273}" "" "M" "no" "" ">45y" "0" "" "" "" "P1" "00295626" "" "" "" "1" "" "03453" "{PMID:Lornage 2019:30701273}" "" "M" "" "" ">40y" "0" "" "" "" "P2" "00295627" "" "" "" "3" "" "03453" "{PMID:Prondzynski:31680489}" "" "F" "no" "" "" "0" "" "" "" "II,4" "00295628" "" "" "00295627" "1" "" "03453" "{PMID:Prondzynski:31680489}" "" "F" "" "" "" "0" "" "" "" "II,5" "00295629" "" "" "00295627" "1" "" "03453" "{PMID:Prondzynski:31680489}" "" "M" "" "" "" "0" "" "" "" "III,4" "00295869" "" "" "" "4" "" "03453" "{PMID:Good 2020:31956495}" "3-generation family, 4 affected (3F, M)" "F" "" "" "" "0" "" "" "" "PatII2" "00296702" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "African American" "NCG_00017" "00316212" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316213" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316214" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316215" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316216" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316217" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316218" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316818" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316819" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316820" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317085" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317086" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317087" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317710" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317711" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317712" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317713" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317714" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00320257" "" "" "" "1" "" "03453" "" "" "F" "no" "France" "" "0" "" "" "" "" "00320258" "" "" "" "1" "" "03453" "{PMID:Isbister 2020:32931854}" "" "M" "" "Australia" "" "0" "" "" "Europe, north-west" "BON1" "00320259" "" "" "" "1" "" "03453" "" "" "M" "" "Italy" "" "0" "" "" "" "" "00372034" "" "" "" "1" "" "03453" "{PMID:Singer 2021:32973354}" "" "" "" "" "" "0" "" "" "" "AHM1" "00372035" "" "" "" "1" "" "03453" "{PMID:Park 2021:33859969}" "" "M" "" "Korea" "" "0" "" "" "" "III-2" "00405037" "" "" "" "1" "" "03453" "{PMID:Theis 2006:17097056}" "" "M" "no" "" "" "0" "" "" "" "Pat1" "00413477" "" "" "" "1" "" "03453" "{PMID:Theis 2006:17097056}" "" "M" "" "" "" "0" "" "" "" "Pat 3" "00413661" "" "" "" "1" "" "04219" "{PMID:Girolami 2014:25173926}" "" "M" "?" "" "" "0" "" "" "" "" "00413663" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413664" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413665" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "F" "?" "" "" "" "" "" "" "" "00413666" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413667" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413668" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413669" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413670" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413671" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "M" "?" "" "" "" "" "" "" "" "00413672" "" "" "" "1" "" "04219" "{PMID: Girolami 2014: 25173926}" "" "F" "?" "" "" "" "" "" "" "" "00413675" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "F" "likely" "" "" "" "" "" "" "" "00413676" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "M" "?" "" "" "" "" "" "" "" "00413677" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "M" "?" "" "" "" "" "" "" "" "00413678" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "?" "?" "" "" "" "" "" "" "" "00413679" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "M" "?" "" "" "" "" "" "" "" "00413680" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "M" "?" "" "" "" "" "" "" "" "00413681" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "F" "?" "" "" "" "" "" "" "" "00413682" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "F" "?" "" "" "" "" "" "" "" "00413683" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "M" "?" "" "" "" "" "" "" "" "00413684" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "F" "?" "" "" "" "" "" "" "" "00413685" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "M" "?" "" "" "" "" "" "" "" "00413686" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "F" "?" "" "" "" "" "" "" "" "00413687" "" "" "" "1" "" "04219" "{PMID: Lindholm 2021: 34802252}" "" "F" "?" "" "" "" "" "" "" "" "00413688" "" "" "" "1" "" "04219" "{PMID: Chiu 2010: 20022194}" "" "M" "?" "" "" "0" "" "" "" "" "00413689" "" "" "" "1" "" "04219" "{PMID: Chiu 2010: 20022194}" "" "F" "?" "" "" "0" "" "" "" "" "00413690" "" "" "" "1" "" "04219" "{PMID: Chiu 2010: 20022194}" "" "M" "?" "" "" "0" "" "" "" "" "00413691" "" "" "" "1" "" "04219" "{PMID: Chiu 2010: 20022194}" "" "M" "?" "" "" "0" "" "" "" "" "00413692" "" "" "" "1" "" "04219" "{PMID: Chen 2021: 34170073}" "" "M" "?" "" "" "" "" "" "" "" "00413693" "" "" "" "1" "" "04219" "{PMID: Chen 2021: 34170073}" "" "M" "?" "" "" "" "" "" "" "" "00413694" "" "" "" "1" "" "04219" "{PMID: Chen 2021: 34170073}" "" "F" "?" "" "" "" "" "" "" "" "00413832" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413837" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413838" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413839" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413840" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413841" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413842" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413855" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413856" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413857" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413858" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413863" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413864" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413866" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413867" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413868" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413869" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413870" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413872" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413873" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413874" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413875" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413876" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413877" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413878" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413879" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413880" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413887" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413892" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413893" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413894" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413895" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413896" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413897" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413898" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413899" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413900" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413901" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413907" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413908" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413909" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413910" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413911" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413923" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413924" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413925" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413926" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413927" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413928" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413929" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00413930" "" "" "" "1" "" "03453" "{PMID:Mohapatra:14567970}" "" "" "" "" "" "0" "" "" "" "" "00413931" "" "" "" "1" "" "03453" "{PMID:Mohapatra:14567970}" "" "" "" "" "" "0" "" "" "" "" "00413935" "" "" "" "1" "" "03453" "{PMID:Zimmerman:20474083}" "" "?" "" "" "" "0" "" "" "" "" "00413936" "" "" "" "1" "" "03453" "{PMID:Zimmerman:20474083}" "" "" "" "" "" "0" "" "" "" "" "00413937" "" "" "" "1" "" "03453" "{PMID:Zimmerman:20474083}" "" "" "" "" "" "0" "" "" "" "" "00413938" "" "" "" "1" "" "03453" "{PMID:Zimmerman:20474083}" "" "" "" "" "" "0" "" "" "" "" "00413939" "" "" "" "1" "" "03453" "{PMID:Gonzalez-Garay:24082139}" "" "" "" "" "" "0" "" "" "" "" "00413940" "" "" "" "1" "" "03453" "{PMID:Gonzalez-Garay:24082139}" "" "" "" "" "" "0" "" "" "" "" "00413941" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "F" "" "" "" "0" "" "" "" "327" "00413942" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "168" "00413943" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "F" "" "" "" "0" "" "" "" "328" "00413944" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "F" "" "" "" "0" "" "" "" "325" "00413945" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "F" "" "" "" "0" "" "" "" "343" "00413946" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "169" "00413947" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "?" "" "" "" "0" "" "" "" "324" "00413948" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "259" "00413949" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "323" "00413950" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "144" "00413951" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "442" "00413952" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "F" "" "" "" "0" "" "" "" "329" "00413953" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "164" "00413954" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "167" "00413955" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "285" "00413956" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "M" "" "" "" "0" "" "" "" "326" "00413957" "" "" "" "1" "" "03453" "{PMID:Akinrinade:26084686}" "" "" "" "" "" "0" "" "" "" "" "00413958" "" "" "" "1" "" "03453" "{PMID:Xu:26573135}" "" "" "" "" "" "0" "" "" "" "" "00413959" "" "" "" "1" "" "03453" "{PMID:Chanavat:26688388}" "" "" "" "" "" "0" "" "" "" "8479" "00413960" "" "" "" "1" "" "03453" "{PMID:Chanavat:26688388}" "" "" "" "" "" "0" "" "" "" "8021" "00413969" "" "" "" "1" "" "04219" "{PMID:Chiu 2010:20022194}" "" "?" "?" "" "" "" "" "" "" "" "00413970" "" "" "" "1" "" "04219" "{PMID:Chiu 2010:20022194}" "" "?" "?" "" "" "" "" "" "" "" "00413976" "" "" "" "1" "" "04219" "{PMID:Kostareva 2016:27662471}" "" "?" "?" "" "" "" "" "" "" "" "00413977" "" "" "" "1" "" "04219" "{PMID:Burns 2017:28790153}" "" "?" "?" "" "" "" "" "" "" "" "00413983" "" "" "" "1" "" "04219" "{PMID:Burns 2017:28790153}" "" "?" "?" "" "" "" "" "" "" "" "00413984" "" "" "" "1" "" "04219" "{PMID:Cirino 2017:29030401}" "" "?" "?" "" "" "" "" "" "" "" "00413985" "" "" "" "1" "" "04219" "{PMID:Higashi 2017:28123168}" "" "?" "?" "" "" "" "" "" "" "" "00413986" "" "" "" "1" "" "04219" "{PMID:Lin 2017:29247119}" "" "?" "?" "" "" "" "" "" "" "" "00413988" "" "" "" "1" "" "04219" "{PMID:Lu 2018:30165862}" "" "?" "?" "" "" "" "" "" "" "" "00413989" "" "" "" "1" "" "04219" "{PMID:Bruel 2019:31231135}" "" "?" "?" "" "" "" "" "" "" "" "00413990" "" "" "" "1" "" "04219" "{PMID:Marschall 2019:31737537}" "" "?" "?" "" "" "" "" "" "" "" "00413991" "" "" "" "1" "" "04219" "{PMID:Marschall 2019:31737537}" "" "?" "?" "" "" "" "" "" "" "" "00413992" "" "" "" "1" "" "04219" "{PMID:Marschall 2019:31737537}" "" "?" "?" "" "" "" "" "" "" "" "00413993" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2021:33500567}" "" "" "" "" "" "0" "" "" "" "" "00413994" "" "" "" "1" "" "03453" "{PMID:Chung:33658040}" "" "" "" "" "" "0" "" "" "" "" "00413995" "" "" "" "1" "" "03453" "{PMID:Chung:33658040}" "" "" "" "" "" "0" "" "" "" "" "00413996" "" "" "" "1" "" "03453" "{PMID:Burstein:32746448}" "" "" "" "" "" "0" "" "" "" "" "00413998" "" "" "" "1" "" "03453" "{PMID:Burstein:32746448}" "" "" "" "" "" "0" "" "" "" "" "00413999" "" "" "" "1" "" "03453" "{PMID:Burstein:32746448}" "" "" "" "" "" "0" "" "" "" "" "00414000" "" "" "" "1" "" "03453" "{PMID:Burstein:32746448}" "" "" "" "" "" "0" "" "" "" "" "00414001" "" "" "" "1" "" "03453" "{PMID:Verdonschot:32880476}" "" "" "" "" "" "0" "" "" "" "" "00414002" "" "" "" "1" "" "03453" "{PMID:Verdonschot:32880476}" "" "" "" "" "" "0" "" "" "" "" "00414004" "" "" "" "1" "" "03453" "{PMID:van Wijngaarden:32277046}" "" "" "" "" "" "0" "" "" "" "" "00414005" "" "" "" "1" "" "04219" "{PMID:Cronin 2020:32405922}" "" "?" "?" "" "" "" "" "" "" "" "00414006" "" "" "" "1" "" "04219" "{PMID:Lahrouchi 2020:31534214}" "" "?" "?" "" "" "0" "" "" "" "" "00414007" "" "" "" "1" "" "04219" "{PMID:van Lint 2019:30847666}" "" "?" "?" "" "" "0" "" "" "" "472" "00414008" "" "" "" "1" "" "04219" "{PMID:van Lint 2019:30847666}" "" "?" "?" "" "" "0" "" "" "" "612" "00414009" "" "" "" "1" "" "03453" "{PMID:Robyns:31513939}" "" "" "" "" "" "0" "" "" "" "" "00414010" "" "" "" "1" "" "03453" "{PMID:Robyns:31513939}" "" "" "" "" "" "0" "" "" "" "" "00414020" "" "" "" "1" "" "03453" "{PMID:Theis 2006:17097056}" "" "" "" "" "" "0" "" "" "" "Pat 2" "00414022" "" "" "" "1" "" "03453" "{PMID:Micheu:33297573}" "" "" "" "" "" "0" "" "" "" "" "00414023" "" "" "" "1" "" "03453" "{PMID:Micheu:33297573}" "" "" "" "" "" "0" "" "" "" "" "00414024" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414025" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "" "00414026" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414027" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414028" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414029" "" "" "" "1" "" "03453" "" "{PMID:Mazzarotto:31983221}" "" "" "" "" "0" "" "" "" "" "00414214" "" "" "" "1" "" "03453" "{PMID:Chiu 2010:20022194}" "" "" "" "" "" "0" "" "" "" "" "00414216" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "Same patient described in {Walsh:27532257}" "F" "" "" "" "0" "" "" "" "127" "00414217" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "Same patient described in {Walsh:27532257}" "F" "" "" "" "0" "" "" "" "165" "00414218" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "F" "" "" "" "0" "" "" "" "166" "00414219" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "Same patient described in {PMID:Walsh:27532257}" "F" "" "" "" "0" "" "" "" "207" "00414220" "" "" "" "1" "" "03453" "{PMID:Pugh:24503780}" "" "F" "" "" "" "0" "" "" "" "170" "00414221" "" "" "" "1" "" "03453" "{PMID:Burns:28790153}" "" "" "" "" "" "0" "" "" "" "" "00414222" "" "" "" "1" "" "03453" "{PMID:Burns:28790153}" "" "" "" "" "" "0" "" "" "" "" "00414223" "" "" "" "1" "" "03453" "{PMID:Burns:28790153}" "" "?" "" "" "" "0" "" "" "" "" "00414224" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414225" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414226" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414227" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414228" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414229" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414230" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414231" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414232" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414233" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "?" "" "" "" "0" "" "" "" "" "00414234" "" "" "" "1" "" "03453" "{PMID:Lin:29247119}" "" "?" "" "" "" "0" "" "" "" "" "00414235" "" "" "" "1" "" "03453" "{PMID:Lin:29247119}" "" "?" "" "" "" "0" "" "" "" "." "00414237" "" "" "" "1" "" "03453" "{PMID:Lin:29247119}" "" "?" "" "" "" "0" "" "" "" "" "00414239" "" "" "" "1" "" "03453" "{PMID:Shanks:28986455}" "" "?" "" "" "" "0" "" "" "" "" "00414240" "" "" "" "1" "" "03453" "{PMID:Shanks:28986455}" "" "" "" "" "" "0" "" "" "" "" "00414241" "" "" "" "1" "" "03453" "{PMID:Lu 2018:30165862}" "" "" "" "" "" "0" "" "" "" "" "00414243" "" "" "" "1" "" "03453" "{PMID:Stepien-Wojno 2018:30403391}" "" "" "" "" "" "0" "" "" "" "" "00414244" "" "" "" "1" "" "03453" "{PMID:van Waning 2018:29447731}" "" "" "" "" "" "0" "" "" "" "" "00414245" "" "" "" "1" "" "03453" "{PMID:van Waning 2018:29447731}" "" "" "" "" "" "0" "" "" "" "" "00414246" "" "" "" "1" "" "03453" "{PMID:van Waning 2018:29447731}" "" "" "" "" "" "0" "" "" "" "" "00414247" "" "" "" "1" "" "03453" "{PMID:van Waning 2018:29447731}" "" "" "" "" "" "0" "" "" "" "" "00414249" "" "" "" "1" "" "03453" "{PMID:Marschall 2019:31737537}" "" "" "" "" "" "0" "" "" "" "" "00414250" "" "" "" "1" "" "03453" "{PMID:Richard 2019:30471092}" "" "" "" "" "" "0" "" "" "" "" "00414252" "" "" "" "1" "" "03453" "{PMID:Jaafar 2019:26779504}" "" "M" "" "Tunisia" "" "0" "" "" "" "ID=3" "00414254" "" "" "" "1" "" "03453" "{PMID:Jelin 2020:31994743}" "" "" "yes" "" "" "0" "" "" "" "ID 5" "00414255" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414256" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414257" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414258" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414259" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414260" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414261" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414490" "" "" "" "1" "" "03453" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat120" "00414492" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414494" "" "" "" "1" "" "03453" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "" "" "0" "" "" "" "" "00414496" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "738" "00414497" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "1446" "00414498" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "468" "00414500" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "739" "00414501" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "740" "00414502" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "469" "00414503" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "470" "00414504" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "741" "00414505" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "1542" "00414506" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "471" "00414507" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "1022" "00414509" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "742" "00414510" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "743" "00414512" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "1529" "00414513" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "1103" "00414514" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "613" "00414515" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "744" "00414516" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "1607" "00414517" "" "" "" "1" "" "03453" "" "" "" "" "" "" "0" "" "" "" "745" "00414518" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "917" "00414519" "" "" "" "1" "" "03453" "{PMID:van Lint 2019:30847666}" "" "" "" "" "" "0" "" "" "" "816" "00414520" "" "" "" "1" "" "03453" "{PMID:Cuenca 2016:26899768}" "" "" "" "" "" "0" "" "" "" "" "00414521" "" "" "" "1" "" "03453" "{PMID:Cuenca 2016:26899768}" "" "" "" "" "" "0" "" "" "" "" "00446742" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat1" "00446784" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat60" "00452319" "" "" "" "4" "" "04219" "{DOI:Ranta-aho 2024:10.1101/2024.01.17.23298671}" "" "M" "?" "United States" "" "" "" "" "" "A-IV-6" "00452320" "" "" "" "6" "" "04219" "{DOI:Ranta-aho 2024:10.1101/2024.01.17.23298671}" "" "M" "?" "United States" "" "" "" "" "" "" "00453160" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam63Pat103" "00453161" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam45Pat83" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 271 "{{individualid}}" "{{diseaseid}}" "00016142" "00351" "00065128" "02087" "00073728" "00352" "00104008" "03381" "00128452" "00198" "00128479" "00198" "00128490" "00198" "00163898" "00351" "00226223" "00352" "00265774" "00244" "00265775" "00244" "00265776" "00244" "00265777" "00244" "00265778" "00244" "00289764" "00198" "00289765" "00198" "00295111" "00198" "00295239" "00198" "00295625" "00244" "00295626" "00244" "00295627" "03094" "00295628" "03094" "00295629" "03094" "00295869" "00352" "00296702" "00198" "00316212" "04172" "00316213" "04172" "00316214" "04172" "00316215" "04172" "00316216" "04172" "00316217" "04172" "00316218" "04172" "00316818" "04172" "00316819" "04172" "00316820" "04172" "00317085" "04172" "00317086" "04172" "00317087" "04172" "00317710" "04172" "00317711" "04172" "00317712" "04172" "00317713" "04172" "00317714" "04172" "00320257" "00198" "00320258" "04172" "00320259" "00198" "00372034" "04173" "00372035" "04173" "00405037" "00351" "00413477" "03094" "00413661" "03094" "00413663" "03094" "00413664" "03094" "00413665" "03094" "00413666" "03094" "00413667" "03094" "00413668" "03094" "00413669" "03094" "00413670" "03094" "00413671" "03094" "00413672" "03094" "00413675" "03094" "00413676" "03094" "00413677" "03094" "00413678" "03094" "00413679" "03094" "00413680" "03094" "00413681" "03094" "00413682" "03094" "00413683" "03094" "00413684" "03094" "00413685" "03094" "00413686" "03094" "00413687" "03094" "00413688" "03094" "00413689" "03094" "00413690" "03094" "00413691" "03094" "00413692" "05712" "00413693" "05712" "00413694" "05712" "00413832" "00000" "00413837" "00000" "00413838" "00198" "00413839" "00198" "00413840" "00198" "00413841" "00198" "00413842" "00198" "00413855" "00198" "00413856" "00198" "00413857" "00198" "00413858" "00198" "00413863" "00198" "00413864" "00198" "00413866" "00198" "00413867" "00000" "00413868" "00198" "00413869" "00198" "00413870" "00000" "00413872" "00000" "00413873" "00198" "00413874" "00198" "00413875" "00198" "00413876" "00198" "00413877" "00198" "00413878" "00198" "00413879" "00198" "00413880" "00198" "00413887" "00198" "00413892" "00000" "00413893" "00198" "00413894" "00000" "00413895" "00198" "00413896" "00198" "00413897" "00198" "00413898" "00000" "00413899" "00198" "00413900" "00198" "00413901" "00198" "00413907" "00198" "00413908" "00198" "00413909" "00198" "00413910" "00198" "00413911" "00198" "00413923" "00198" "00413924" "00000" "00413925" "00198" "00413926" "00198" "00413927" "00198" "00413928" "00000" "00413929" "00198" "00413930" "00352" "00413931" "00352" "00413935" "00352" "00413936" "00352" "00413937" "00352" "00413938" "00352" "00413939" "00352" "00413940" "00198" "00413941" "00352" "00413942" "00352" "00413943" "00352" "00413944" "00352" "00413945" "00352" "00413946" "00352" "00413947" "00352" "00413948" "00352" "00413949" "00352" "00413950" "00352" "00413951" "00352" "00413952" "00352" "00413953" "00352" "00413954" "00352" "00413955" "00352" "00413956" "00352" "00413957" "00352" "00413958" "00351" "00413959" "00352" "00413960" "04173" "00413969" "03094" "00413970" "03094" "00413976" "03094" "00413977" "03094" "00413983" "03094" "00413984" "03094" "00413985" "03094" "00413986" "03094" "00413988" "03094" "00413989" "05712" "00413990" "03094" "00413991" "03094" "00413992" "03094" "00413993" "04173" "00413994" "00351" "00413995" "00351" "00413996" "00352" "00413998" "00351" "00413999" "00352" "00414000" "00352" "00414001" "00352" "00414002" "00352" "00414004" "00198" "00414005" "00198" "00414006" "03094" "00414007" "03094" "00414008" "03094" "00414009" "00351" "00414010" "00351" "00414020" "00351" "00414022" "00351" "00414023" "00351" "00414024" "00352" "00414025" "00352" "00414026" "00000" "00414027" "00000" "00414028" "00000" "00414029" "00000" "00414214" "03094" "00414216" "00352" "00414217" "00352" "00414218" "00352" "00414219" "00352" "00414220" "00352" "00414221" "00351" "00414222" "00351" "00414223" "00351" "00414224" "00352" "00414225" "00352" "00414226" "00352" "00414227" "00352" "00414228" "00352" "00414229" "00352" "00414230" "00352" "00414231" "00352" "00414232" "00352" "00414233" "00352" "00414234" "05158" "00414235" "05158" "00414237" "05158" "00414239" "05166" "00414240" "05166" "00414241" "00351" "00414243" "05166" "00414244" "04173" "00414245" "04173" "00414246" "04173" "00414247" "00351" "00414249" "00351" "00414250" "04173" "00414252" "00351" "00414254" "00352" "00414255" "00000" "00414256" "00000" "00414257" "00000" "00414258" "00000" "00414259" "00352" "00414260" "00352" "00414261" "00352" "00414490" "04173" "00414492" "00352" "00414494" "00352" "00414496" "00351" "00414497" "00352" "00414498" "00351" "00414500" "04172" "00414501" "04172" "00414502" "00351" "00414503" "05158" "00414504" "00352" "00414505" "04172" "00414506" "00351" "00414507" "00351" "00414509" "04172" "00414510" "04172" "00414512" "00352" "00414513" "00351" "00414514" "04172" "00414515" "04172" "00414516" "00351" "00414517" "00351" "00414518" "00352" "00414519" "00351" "00414520" "00352" "00414521" "00352" "00446742" "04173" "00446784" "04173" "00452319" "01227" "00452319" "05712" "00452320" "05712" "00453160" "04172" "00453161" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00244, 00351, 00352, 01227, 02087, 03094, 03381, 04172, 04173, 05158, 05166, 05712, 05713 ## Count = 147 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000014927" "00351" "00016142" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000051233" "02087" "00065128" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000053479" "00352" "00073728" "00006" "Unknown" "" "no family history; atrial septal defect (HP:0001631)" "" "00y02m" "" "" "" "" "" "" "" "" "" "0000081942" "03381" "00104008" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000100671" "00198" "00128452" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100672" "00198" "00128452" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100701" "00198" "00128479" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100714" "00198" "00128490" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000129010" "00351" "00163898" "02438" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171348" "00352" "00226223" "02588" "Familial, autosomal dominant" "47y" "syncope (HP:0001279); left atrial enlargement (HP:0031295); left ventricular hypertrophy (HP:0001712); palpitations (HP:0001962); ventricular tachycardia (HP:0004756)" "" "" "" "" "" "" "" "" "" "" "" "0000203560" "00244" "00265774" "00006" "Familial, autosomal dominant" "" "adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000203561" "00244" "00265775" "00006" "Familial, autosomal dominant" "" "adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000203562" "00244" "00265776" "00006" "Familial, autosomal dominant" "" "adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000203563" "00244" "00265777" "00006" "Familial, autosomal dominant" "" "adult-onset distal myopathy, rimmed vacuoles, asymmetrical muscle weakness, atrophy tibialis anterior, initial involvement ankle dorsiflexion later developing to progressing limb muscles" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000203564" "00244" "00265778" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "myopathy" "" "0000223190" "01959" "00295625" "03453" "Isolated (sporadic)" "" "Multiple structured Core Disease (MsCD)" "" "" "" "" "" "" "" "" "" "" "" "0000223191" "03094" "00295627" "03453" "Familial, autosomal dominant" "" "cardiomyopathy, hypertrophic, type 23 (CMH-23)" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic, type 23 (CMH-23)" "cardiomyopathy, hypertrophic" "" "0000223192" "03094" "00295628" "03453" "Familial, autosomal dominant" "" "cardiomyopathy, hypertrophic, type 23 (CMH-23)" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic, type 23 (CMH-23)" "cardiomyopathy, hypertrophic" "" "0000223193" "03094" "00295629" "03453" "Familial, autosomal dominant" "" "cardiomyopathy, hypertrophic, type 23 (CMH-23)" "" "" "" "" "" "" "" "" "cardiomyopathy, hypertrophic, type 23 (CMH-23)" "cardiomyopathy, hypertrophic" "" "0000223346" "00352" "00295869" "03453" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "left-dominant arrhythmogenic cardiomyopathy" "" "0000224102" "00198" "00296702" "00006" "Unknown" "37y" "dilated cardiomyopathy, heart failure" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000227900" "00244" "00295625" "03453" "Isolated (sporadic)" "" "see paper; neonatal moderate hypotonia, sucking difficulties; 2m-cardiomegaly, heart failure, ..." "" "" "" "" "" "" "" "" "MYOCOZ" "Multiple structured Core Disease (MsCD)" "" "0000227901" "00244" "00295626" "03453" "Isolated (sporadic)" "" "see paper; neonatal and infancy unremarkable; 7y-unable to jump or run fast, ..." "" "" "" "" "" "" "" "" "MYOCOZ" "Multiple structured Core Disease (MsCD)" "" "0000239958" "04172" "00316212" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239959" "04172" "00316213" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239960" "04172" "00316214" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239961" "04172" "00316215" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239962" "04172" "00316216" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239963" "04172" "00316217" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000239964" "04172" "00316218" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240564" "04172" "00316818" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240565" "04172" "00316819" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240566" "04172" "00316820" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000240831" "04172" "00317085" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240832" "04172" "00317086" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240833" "04172" "00317087" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241456" "04172" "00317710" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241457" "04172" "00317711" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241458" "04172" "00317712" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241459" "04172" "00317713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241460" "04172" "00317714" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000242299" "04172" "00320258" "03453" "Unknown" "32y" "mild (13 mm) asymmetrical septal hypertrophy on echocardiogram and cardiac magnetic resonance imaging" "" "" "" "" "" "" "" "" "" "" "" "0000242300" "00198" "00320259" "03453" "Isolated (sporadic)" "" "" ">20y" "" "" "" "" "" "" "" "" "distal myopathy" "" "0000305626" "03094" "00413661" "04219" "Familial, autosomal dominant" "87y" "(HP:0005110), (HP:0001678)" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305628" "03094" "00413663" "04219" "Familial, autosomal dominant" "78y" "(HP:0004749), (HP:0001678)" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305629" "03094" "00413664" "04219" "Familial, autosomal dominant" "50y" "(HP:0004763), (HP:0006699), (HP:0001678)" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305630" "03094" "00413665" "04219" "Familial, autosomal dominant" "46y" "(HP:0004763), (HP:0006699), (HP:0011705)" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305631" "03094" "00413666" "04219" "Familial, autosomal dominant" "42y" "(HP:0004763), (HP:0006699)" "" "" "" "" "" "" "" "" "" "" "" "0000305632" "03094" "00413667" "04219" "Familial, autosomal dominant" "53y" "(HP:0001678)" "" "" "" "" "" "" "" "" "" "" "" "0000305633" "03094" "00413668" "04219" "Familial, autosomal dominant" "53y" "(HP:0004763)" "" "" "" "" "" "" "" "" "" "" "" "0000305634" "03094" "00413669" "04219" "Familial, autosomal dominant" "53y" "(HP:0004757), (HP:0001678)" "" "" "" "" "" "" "" "" "" "" "" "0000305635" "03094" "00413670" "04219" "Familial, autosomal dominant" "43y" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305636" "03094" "00413671" "04219" "Familial, autosomal dominant" "04y" "(HP:0006699), (HP:0004749)" "" "" "" "" "" "" "" "" "" "" "" "0000305637" "03094" "00413672" "04219" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "" "" "" "0000305640" "03094" "00413675" "04219" "Isolated (sporadic)" "29y" "(HP:0030718), (HP:0031295), (HP:0005162), (HP:0033118), (HP:0025168), (HP:0002789), (HP:0005110), (HP:0001695)" "" "" "" "" "" "" "" "" "" "Restrictive cardiomyopathy" "" "0000305641" "03094" "00413676" "04219" "Familial, autosomal dominant" "65y" "(HP:0030682), (HP:0030718), (HP:0031295), (HP:0005110), (HP:0025168), (HP:0001722), (HP:0001279), (HP:0004755), (HP:0000822), (HP:0004757)" "" "" "" "" "" "" "" "" "" "Left ventricular noncompaction" "" "0000305642" "03094" "00413677" "04219" "Familial, autosomal dominant" "53y" "(HP:0001279), (HP:0030682), (HP:0004756), (HP:0004757), (HP:0011712), (HP:0001962), (HP:0100749), (HP:0006682), (HP:0004755)" "" "" "" "" "" "" "" "" "" "Left ventricular noncompaction" "" "0000305643" "03094" "00413678" "04219" "Familial, autosomal dominant" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "0000305644" "03094" "00413679" "04219" "Familial, autosomal dominant" "37y" "(HP:0001962), (HP:0010872), (HP:4000004), (HP:0004755), (HP:0004749), (HP:0001722), (HP:0004756)" "" "" "" "" "" "" "" "" "" "Atrial flutter" "" "0000305645" "03094" "00413680" "04219" "Familial, autosomal dominant" "31y" "(HP:0011712), (HP:0004755), (HP:0005110)" "" "" "" "" "" "" "" "" "" "Atrial fibrillation" "" "0000305646" "03094" "00413681" "04219" "Familial, autosomal dominant" "36y" "(HP:0100749), (HP:0001962), (HP:0012378)" "" "" "" "" "" "" "" "" "" "Right bundle branch block" "" "0000305647" "03094" "00413682" "04219" "Familial, autosomal dominant" "26y" "(HP:0030682), (HP:0001712)" "" "" "" "" "" "" "" "" "" "Left ventricular noncompaction" "" "0000305648" "03094" "00413683" "04219" "Familial, autosomal dominant" "16y" "(HP:0001279), (HP:0004756), (HP:0010872)" "" "" "" "" "" "" "" "" "" "Syncope, ventricular tachycardia" "" "0000305649" "03094" "00413684" "04219" "Familial, autosomal dominant" "" "(HP:0001635), (HP:0001645)" "" "" "" "" "" "" "" "" "" "Heart failure" "" "0000305650" "03094" "00413685" "04219" "Familial, autosomal dominant" "08y" "" "" "" "" "" "" "" "" "" "" "Unspecified arrhythmia" "" "0000305651" "03094" "00413686" "04219" "Familial, autosomal dominant" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "0000305652" "03094" "00413687" "04219" "Familial, autosomal dominant" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "0000305653" "03094" "00413688" "04219" "Unknown" "64y" "(HP:0001712)" "" "" "" "" "" "" "" "" "" "" "" "0000305654" "03094" "00413689" "04219" "Unknown" "44y" "(HP:0001712)" "" "" "" "" "" "" "" "" "" "" "" "0000305655" "03094" "00413690" "04219" "Unknown" "16y" "(HP:0001712)" "" "" "" "" "" "" "" "" "" "" "" "0000305656" "03094" "00413691" "04219" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "" "" "0000305657" "05712" "00413692" "04219" "Familial, autosomal dominant" "46y" "(HP:0009027), (HP:0003693), (HP:0002460), (HP:0003376)" "" "" "" "" "" "" "" "" "" "Distal myopathy" "" "0000305658" "05712" "00413693" "04219" "Familial, autosomal dominant" "" "(HP:0009053), (HP:0008997), (HP:0009473), (HP:0002540), (HP:0008956)" "" "" "" "" "" "" "" "" "" "Distal myopathy" "" "0000305659" "05712" "00413694" "04219" "Familial, autosomal dominant" "38y" "(HP:0033526), (HP:0003376)" "" "" "" "" "" "" "" "" "" "Distal myopathy" "" "0000305799" "00198" "00413838" "03453" "Unknown" "" "complex syndromic phenotype" "" "" "" "" "" "" "" "" "" "" "" "0000305800" "00198" "00413839" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305801" "00198" "00413840" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305802" "00198" "00413841" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305803" "00198" "00413842" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305816" "00198" "00413855" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305817" "00198" "00413856" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305818" "00198" "00413857" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305819" "00198" "00413858" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305824" "00198" "00413863" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305825" "00198" "00413864" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305827" "00198" "00413866" "03453" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000305828" "00198" "00413868" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305829" "00198" "00413869" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305831" "00198" "00413873" "03453" "Unknown" "" "Unsolved patient with ocular albinism" "" "" "" "" "" "" "" "" "" "Ocular albinism" "" "0000305832" "00198" "00413874" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305833" "00198" "00413875" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305834" "00198" "00413875" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305835" "00198" "00413876" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305836" "00198" "00413877" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305837" "00198" "00413878" "03453" "Unknown" "" "Unsolved patient with Retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000305838" "00198" "00413879" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305839" "00198" "00413880" "03453" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cardiomyopathy" "" "0000305846" "00198" "00413887" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305851" "00198" "00413893" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305852" "00198" "00413895" "03453" "Unknown" "" "Unsolved patient with Retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000305853" "00198" "00413896" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305854" "00198" "00413897" "03453" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Complex syndromic phenotype" "" "0000305855" "00198" "00413899" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305856" "00198" "00413900" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305857" "00198" "00413901" "03453" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Complex syndromic phenotype (including cardiomyopathy)" "" "0000305864" "00198" "00413907" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305865" "00198" "00413908" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305866" "00198" "00413909" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305867" "00198" "00413910" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305868" "00198" "00413911" "03453" "Unknown" "" "Unsolved patient with Retinitis pigmentosa patient" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa patient" "" "0000305880" "00198" "00413923" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305881" "00198" "00413925" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305882" "00198" "00413926" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305883" "00198" "00413927" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305884" "00198" "00413929" "03453" "Unknown" "" "Unsolved patient with a skeletal muscle disease" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305896" "03094" "00413969" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305897" "03094" "00413970" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305903" "03094" "00413976" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Restrictive cardiomyopathy" "" "0000305904" "03094" "00413977" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305910" "03094" "00413983" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305911" "03094" "00413984" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305912" "03094" "00413985" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305913" "03094" "00413986" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000305914" "03094" "00413988" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Undefined cardiomyopathy" "" "0000305915" "05712" "00413989" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000305916" "03094" "00413990" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305917" "03094" "00413991" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathy" "" "0000305918" "03094" "00413992" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dilated cardiomyopathy" "" "0000305920" "00198" "00414004" "03453" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Mitral Valve Prolapse" "" "0000305921" "00198" "00414005" "04219" "Unknown" "" "(HP:0010872)" "" "" "" "" "" "" "" "" "" "T-wave inversion" "" "0000305922" "03094" "00414006" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hypertrophic cardiomyopathyphic" "" "0000305923" "03094" "00414007" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Noncompaction cardiomyopathy" "" "0000305924" "03094" "00414008" "04219" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Noncompaction cardiomyopathy" "" "0000306087" "00198" "00413940" "03453" "-" "" "" "" "" "" "" "" "" "" "" "" "Healthy with family history of HCM (father)" "" "0000306089" "05158" "00414234" "03453" "Unknown" "" "Cardiac Arrhythmogenic Sudden Death" "" "" "" "" "" "" "" "" "" "" "" "0000306090" "05158" "00414235" "03453" "Unknown" "" "Cardiac Arrhythmogenic Sudden Death" "" "" "" "" "" "" "" "" "" "" "" "0000306092" "05158" "00414237" "03453" "Unknown" "" "Cardiac Arrhythmogenic Sudden Death" "" "" "" "" "" "" "" "" "" "" "" "0000306097" "00351" "00414252" "03453" "Unknown" "" "Progressive decline in systolic function, pending end-stage; Chest pain Dyspnea; Family history of HCM" "" "" "" "" "" "" "" "" "" "HCM" "" "0000306099" "00198" "00414254" "03453" "Isolated (sporadic)" "" "History of consanguinity and prior affected, fetal pleural effusions, pericardial effusion, ascites, supraventricular tachycardia" "" "" "" "" "" "" "" "" "" "fetal pleural effusions" "" "0000306330" "04172" "00414500" "03453" "Unknown" "" "NCCM noncompaction cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000306331" "04172" "00414505" "03453" "Unknown" "" "NCCM noncompaction cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000335946" "04173" "00446742" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335988" "04173" "00446784" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000340922" "05712" "00452319" "04219" "Familial, autosomal dominant" "40y" "HP:0009027, HP:0002460" ">30y" "" "" "" "" "" "" "" "" "" "" "0000340923" "05712" "00452320" "04219" "Familial, autosomal dominant" "" "HP:0009027, HP:0003376, HP:0002460" "37y?" "" "" "" "" "" "" "" "" "" "" "0000341806" "04172" "00453160" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341807" "04172" "00453161" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 270 "{{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" "" "0000065279" "00065128" "1" "01602" "01602" "2016-05-19 13:31:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000073888" "00073728" "1" "00006" "00006" "2016-06-18 19:26:06" "" "" "SEQ" "DNA" "" "" "0000104479" "00104008" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000129290" "00128452" "1" "02244" "02244" "2017-09-15 17:48:04" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129317" "00128479" "1" "02244" "02244" "2017-09-15 18:46:58" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129328" "00128490" "1" "02244" "02244" "2017-09-15 19:08:00" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000164762" "00163898" "1" "02438" "02438" "2018-04-22 19:51:59" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000227299" "00226223" "1" "02588" "02588" "2019-03-04 14:23:47" "" "" "SEQ" "DNA" "blood" "" "0000266897" "00265774" "1" "00006" "00006" "2019-10-05 14:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266898" "00265775" "1" "00006" "00006" "2019-10-05 14:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266899" "00265776" "1" "00006" "00006" "2019-10-05 14:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266900" "00265777" "1" "00006" "00006" "2019-10-05 14:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266901" "00265778" "1" "00006" "00006" "2019-10-05 14:18:41" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000290932" "00289764" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290933" "00289765" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296279" "00295111" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296407" "00295239" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296797" "00295625" "1" "03453" "03453" "2020-03-20 14:15:02" "" "" "SEQ-NG" "DNA" "" "" "0000296798" "00295626" "1" "03453" "03453" "2020-03-20 14:23:17" "" "" "SEQ-NG" "DNA" "" "" "0000296799" "00295627" "1" "03453" "03453" "2020-03-20 14:34:33" "" "" "SEQ-NG" "DNA" "" "" "0000296800" "00295628" "1" "03453" "03453" "2020-03-20 14:43:20" "" "" "SEQ" "DNA" "" "" "0000296801" "00295629" "1" "03453" "03453" "2020-03-20 14:49:13" "" "" "SEQ" "DNA" "" "" "0000297041" "00295869" "1" "03453" "00006" "2020-03-20 11:38:12" "" "" "SEQ-NG" "DNA" "" "10-gene panel" "0000297812" "00296702" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317394" "00316212" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317395" "00316213" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317396" "00316214" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317397" "00316215" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317398" "00316216" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317399" "00316217" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317400" "00316218" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318000" "00316818" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318001" "00316819" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318002" "00316820" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318267" "00317085" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318268" "00317086" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318269" "00317087" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318892" "00317710" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318893" "00317711" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318894" "00317712" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318895" "00317713" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318896" "00317714" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000321443" "00320257" "1" "03453" "03453" "2020-11-25 16:14:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000321444" "00320258" "1" "03453" "03453" "2020-11-25 16:24:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000321445" "00320259" "1" "03453" "03453" "2020-11-25 17:01:05" "" "" "SEQ-NG-I" "DNA" "" "gene panel" "0000373262" "00372034" "1" "03453" "03453" "2021-05-05 21:52:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000373263" "00372035" "1" "03453" "03453" "2021-05-05 22:19:52" "" "" "SEQ-NG" "DNA" "" "" "0000406277" "00405037" "1" "03453" "03453" "2022-03-14 13:47:44" "" "" "?" "DNA" "" "" "0000414756" "00413477" "1" "03453" "03453" "2022-07-19 12:58:14" "" "" "PCR" "DNA" "" "" "0000414941" "00413661" "1" "04219" "04219" "2022-07-21 10:54:54" "" "" "SEQ-NG" "DNA" "" "" "0000414943" "00413663" "1" "04219" "04219" "2022-07-21 11:54:00" "" "" "SEQ-NG" "DNA" "" "" "0000414944" "00413664" "1" "04219" "04219" "2022-07-21 12:01:47" "" "" "SEQ-NG" "DNA" "" "" "0000414945" "00413665" "1" "04219" "04219" "2022-07-21 12:09:38" "" "" "SEQ-NG" "DNA" "" "" "0000414946" "00413666" "1" "04219" "04219" "2022-07-21 12:17:23" "" "" "SEQ-NG" "DNA" "" "" "0000414947" "00413667" "1" "04219" "04219" "2022-07-21 12:22:03" "" "" "SEQ-NG" "DNA" "" "" "0000414948" "00413668" "1" "04219" "04219" "2022-07-21 12:32:58" "" "" "SEQ-NG" "DNA" "" "" "0000414949" "00413669" "1" "04219" "04219" "2022-07-21 12:36:11" "" "" "SEQ-NG" "DNA" "" "" "0000414950" "00413670" "1" "04219" "04219" "2022-07-21 12:42:36" "" "" "SEQ-NG" "DNA" "" "" "0000414951" "00413671" "1" "04219" "04219" "2022-07-21 12:48:28" "" "" "SEQ-NG" "DNA" "" "" "0000414952" "00413672" "1" "04219" "04219" "2022-07-21 13:05:27" "" "" "SEQ-NG" "DNA" "" "" "0000414955" "00413675" "1" "04219" "04219" "2022-07-21 13:21:25" "" "" "SEQ" "DNA" "" "" "0000414956" "00413676" "1" "04219" "04219" "2022-07-21 13:33:47" "" "" "SEQ" "DNA" "" "" "0000414957" "00413677" "1" "04219" "04219" "2022-07-21 13:46:01" "" "" "SEQ" "DNA" "" "" "0000414958" "00413678" "1" "04219" "04219" "2022-07-21 13:49:43" "" "" "SEQ" "DNA" "" "" "0000414959" "00413679" "1" "04219" "04219" "2022-07-21 13:54:45" "" "" "SEQ" "DNA" "" "" "0000414960" "00413680" "1" "04219" "04219" "2022-07-21 14:01:25" "" "" "SEQ" "DNA" "" "" "0000414961" "00413681" "1" "04219" "04219" "2022-07-21 14:04:58" "" "" "SEQ" "DNA" "" "" "0000414962" "00413682" "1" "04219" "04219" "2022-07-21 14:08:51" "" "" "SEQ" "DNA" "" "" "0000414963" "00413683" "1" "04219" "04219" "2022-07-21 14:14:01" "" "" "SEQ" "DNA" "" "" "0000414964" "00413684" "1" "04219" "04219" "2022-07-21 14:18:04" "" "" "SEQ" "DNA" "" "" "0000414965" "00413685" "1" "04219" "04219" "2022-07-21 14:22:06" "" "" "SEQ" "DNA" "" "" "0000414966" "00413686" "1" "04219" "04219" "2022-07-21 14:25:39" "" "" "SEQ" "DNA" "" "" "0000414967" "00413687" "1" "04219" "04219" "2022-07-21 14:28:37" "" "" "SEQ" "DNA" "" "" "0000414968" "00413688" "1" "04219" "04219" "2022-07-21 14:37:15" "" "" "PCR" "DNA" "" "" "0000414969" "00413689" "1" "04219" "04219" "2022-07-21 14:45:33" "" "" "PCR" "DNA" "" "" "0000414970" "00413690" "1" "04219" "04219" "2022-07-21 14:50:51" "" "" "PCR" "DNA" "" "" "0000414971" "00413691" "1" "04219" "04219" "2022-07-21 14:54:02" "" "" "PCR" "DNA" "" "" "0000414972" "00413692" "1" "04219" "04219" "2022-07-21 15:08:00" "" "" "SEQ" "DNA" "" "" "0000414973" "00413693" "1" "04219" "04219" "2022-07-21 15:15:19" "" "" "SEQ" "DNA" "" "" "0000414974" "00413694" "1" "04219" "04219" "2022-07-21 15:19:51" "" "" "SEQ" "DNA" "" "" "0000415112" "00413832" "1" "03453" "03453" "2022-07-25 10:41:04" "" "" "SEQ-NG" "DNA" "" "" "0000415117" "00413837" "1" "03453" "03453" "2022-07-25 10:44:32" "" "" "SEQ-NG" "DNA" "" "" "0000415118" "00413838" "1" "03453" "03453" "2022-07-25 10:48:26" "" "" "SEQ-NG" "DNA" "" "" "0000415119" "00413839" "1" "03453" "03453" "2022-07-25 10:52:06" "" "" "SEQ-NG" "DNA" "" "" "0000415120" "00413840" "1" "03453" "03453" "2022-07-25 10:54:21" "" "" "SEQ-NG" "DNA" "" "" "0000415121" "00413841" "1" "03453" "03453" "2022-07-25 10:57:00" "" "" "SEQ-NG" "DNA" "" "" "0000415122" "00413842" "1" "03453" "03453" "2022-07-25 10:59:28" "" "" "SEQ-NG" "DNA" "" "" "0000415135" "00413855" "1" "03453" "03453" "2022-07-25 12:40:06" "" "" "SEQ-NG" "DNA" "" "" "0000415136" "00413856" "1" "03453" "03453" "2022-07-25 12:45:41" "" "" "SEQ-NG" "DNA" "" "" "0000415137" "00413857" "1" "03453" "03453" "2022-07-25 12:48:21" "" "" "SEQ-NG" "DNA" "" "" "0000415138" "00413858" "1" "03453" "03453" "2022-07-25 12:50:22" "03453" "2022-07-25 12:51:30" "SEQ-NG" "DNA" "" "Marcosavarese" "0000415143" "00413863" "1" "03453" "03453" "2022-07-25 13:14:18" "" "" "SEQ-NG" "DNA" "" "" "0000415144" "00413864" "1" "03453" "03453" "2022-07-25 13:15:59" "" "" "SEQ-NG" "DNA" "" "" "0000415146" "00413866" "1" "03453" "03453" "2022-07-25 13:17:45" "" "" "SEQ-NG" "DNA" "" "" "0000415147" "00413867" "1" "03453" "03453" "2022-07-25 13:20:27" "" "" "SEQ-NG" "DNA" "" "" "0000415148" "00413868" "1" "03453" "03453" "2022-07-25 13:21:49" "" "" "SEQ-NG" "DNA" "" "" "0000415149" "00413869" "1" "03453" "03453" "2022-07-25 13:25:08" "" "" "SEQ-NG" "DNA" "" "" "0000415150" "00413870" "1" "03453" "03453" "2022-07-25 13:27:01" "" "" "SEQ-NG" "DNA" "" "" "0000415151" "00413872" "1" "03453" "03453" "2022-07-25 13:28:24" "" "" "SEQ-NG" "DNA" "" "" "0000415153" "00413873" "1" "03453" "03453" "2022-07-25 13:31:13" "" "" "SEQ-NG" "DNA" "" "" "0000415154" "00413874" "1" "03453" "03453" "2022-07-25 13:32:39" "" "" "SEQ-NG" "DNA" "" "" "0000415155" "00413875" "1" "03453" "03453" "2022-07-25 13:34:15" "" "" "SEQ-NG" "DNA" "" "" "0000415156" "00413876" "1" "03453" "03453" "2022-07-25 13:35:34" "" "" "SEQ-NG" "DNA" "" "" "0000415157" "00413877" "1" "03453" "03453" "2022-07-25 13:37:05" "" "" "SEQ-NG" "DNA" "" "" "0000415158" "00413878" "1" "03453" "03453" "2022-07-25 13:38:38" "" "" "SEQ-NG" "DNA" "" "" "0000415159" "00413879" "1" "03453" "03453" "2022-07-25 13:41:31" "" "" "SEQ-NG" "DNA" "" "" "0000415160" "00413880" "1" "03453" "03453" "2022-07-25 13:43:03" "" "" "SEQ-NG" "DNA" "" "" "0000415167" "00413887" "1" "03453" "03453" "2022-07-25 13:44:30" "" "" "SEQ-NG" "DNA" "" "" "0000415172" "00413892" "1" "03453" "03453" "2022-07-25 13:50:24" "" "" "SEQ-NG" "DNA" "" "" "0000415173" "00413893" "1" "03453" "03453" "2022-07-25 13:51:42" "" "" "SEQ-NG" "DNA" "" "" "0000415174" "00413894" "1" "03453" "03453" "2022-07-25 13:52:51" "" "" "SEQ-NG" "DNA" "" "" "0000415175" "00413895" "1" "03453" "03453" "2022-07-25 13:54:20" "" "" "SEQ-NG" "DNA" "" "" "0000415176" "00413896" "1" "03453" "03453" "2022-07-25 13:55:34" "" "" "SEQ-NG" "DNA" "" "" "0000415177" "00413897" "1" "03453" "03453" "2022-07-25 13:56:58" "" "" "SEQ-NG" "DNA" "" "" "0000415178" "00413898" "1" "03453" "03453" "2022-07-25 13:58:20" "" "" "SEQ-NG" "DNA" "" "" "0000415179" "00413899" "1" "03453" "03453" "2022-07-25 14:02:30" "" "" "SEQ-NG" "DNA" "" "" "0000415180" "00413900" "1" "03453" "03453" "2022-07-25 14:04:39" "" "" "SEQ-NG" "DNA" "" "" "0000415181" "00413901" "1" "03453" "03453" "2022-07-25 14:06:01" "" "" "SEQ-NG" "DNA" "" "" "0000415187" "00413907" "1" "03453" "03453" "2022-07-25 15:31:47" "" "" "SEQ-NG" "DNA" "" "" "0000415188" "00413908" "1" "03453" "03453" "2022-07-25 15:33:26" "" "" "SEQ-NG" "DNA" "" "" "0000415189" "00413909" "1" "03453" "03453" "2022-07-25 15:34:52" "" "" "SEQ-NG" "DNA" "" "" "0000415190" "00413910" "1" "03453" "03453" "2022-07-25 15:36:15" "" "" "SEQ-NG" "DNA" "" "" "0000415191" "00413911" "1" "03453" "03453" "2022-07-25 15:38:44" "" "" "SEQ-NG" "DNA" "" "" "0000415203" "00413923" "1" "03453" "03453" "2022-07-25 16:04:45" "" "" "SEQ-NG" "DNA" "" "" "0000415204" "00413924" "1" "03453" "03453" "2022-07-25 16:07:15" "" "" "SEQ-NG" "DNA" "" "" "0000415205" "00413925" "1" "03453" "03453" "2022-07-25 16:09:25" "" "" "SEQ-NG" "DNA" "" "" "0000415206" "00413926" "1" "03453" "03453" "2022-07-25 16:10:52" "" "" "SEQ-NG" "DNA" "" "" "0000415207" "00413927" "1" "03453" "03453" "2022-07-25 16:12:16" "" "" "SEQ-NG" "DNA" "" "" "0000415208" "00413928" "1" "03453" "03453" "2022-07-25 16:13:13" "" "" "SEQ-NG" "DNA" "" "" "0000415209" "00413929" "1" "03453" "03453" "2022-07-25 16:14:21" "" "" "SEQ-NG" "DNA" "" "" "0000415210" "00413930" "1" "03453" "03453" "2022-07-25 16:24:43" "" "" "SEQ" "DNA" "" "" "0000415211" "00413931" "1" "03453" "03453" "2022-07-25 16:28:29" "" "" "SEQ" "DNA" "" "" "0000415215" "00413935" "1" "03453" "03453" "2022-07-25 20:46:38" "" "" "SEQ-NG" "DNA" "" "" "0000415216" "00413936" "1" "03453" "03453" "2022-07-25 21:17:06" "" "" "SEQ-NG" "DNA" "" "" "0000415217" "00413937" "1" "03453" "03453" "2022-07-25 21:22:56" "" "" "SEQ-NG" "DNA" "" "" "0000415218" "00413938" "1" "03453" "03453" "2022-07-25 21:28:47" "" "" "SEQ-NG" "DNA" "" "" "0000415219" "00413939" "1" "03453" "03453" "2022-07-25 21:33:43" "" "" "SEQ-NG" "DNA" "" "" "0000415220" "00413940" "1" "03453" "03453" "2022-07-25 21:36:48" "" "" "SEQ-NG" "DNA" "" "" "0000415221" "00413941" "1" "03453" "03453" "2022-07-25 21:44:12" "" "" "SEQ-NG" "DNA" "" "" "0000415222" "00413942" "1" "03453" "03453" "2022-07-25 21:46:57" "" "" "SEQ-NG" "DNA" "" "" "0000415223" "00413943" "1" "03453" "03453" "2022-07-25 21:49:39" "" "" "SEQ-NG" "DNA" "" "" "0000415224" "00413944" "1" "03453" "03453" "2022-07-25 21:51:56" "" "" "SEQ-NG" "DNA" "" "" "0000415225" "00413945" "1" "03453" "03453" "2022-07-25 21:54:08" "" "" "SEQ-NG" "DNA" "" "" "0000415226" "00413946" "1" "03453" "03453" "2022-07-25 21:56:01" "" "" "SEQ-NG" "DNA" "" "" "0000415227" "00413947" "1" "03453" "03453" "2022-07-25 21:58:02" "" "" "SEQ-NG" "DNA" "" "" "0000415228" "00413948" "1" "03453" "03453" "2022-07-25 22:01:21" "" "" "SEQ-NG" "DNA" "" "" "0000415229" "00413949" "1" "03453" "03453" "2022-07-25 22:03:35" "" "" "SEQ-NG" "DNA" "" "" "0000415230" "00413950" "1" "03453" "03453" "2022-07-25 22:06:22" "" "" "SEQ-NG" "DNA" "" "" "0000415231" "00413951" "1" "03453" "03453" "2022-07-25 22:08:31" "" "" "SEQ-NG" "DNA" "" "" "0000415232" "00413952" "1" "03453" "03453" "2022-07-25 22:10:20" "" "" "SEQ-NG" "DNA" "" "" "0000415233" "00413953" "1" "03453" "03453" "2022-07-25 22:12:41" "" "" "SEQ-NG" "DNA" "" "" "0000415234" "00413954" "1" "03453" "03453" "2022-07-25 22:14:56" "" "" "SEQ-NG" "DNA" "" "" "0000415235" "00413955" "1" "03453" "03453" "2022-07-25 22:17:25" "" "" "SEQ-NG" "DNA" "" "" "0000415236" "00413956" "1" "03453" "03453" "2022-07-25 22:19:30" "" "" "SEQ-NG" "DNA" "" "" "0000415237" "00413957" "1" "03453" "03453" "2022-07-25 22:22:09" "" "" "SEQ-NG" "DNA" "" "" "0000415238" "00413958" "1" "03453" "03453" "2022-07-25 23:29:58" "" "" "SEQ-NG" "DNA" "" "" "0000415239" "00413959" "1" "03453" "03453" "2022-07-25 23:36:10" "" "" "SEQ-NG" "DNA" "" "" "0000415240" "00413960" "1" "03453" "03453" "2022-07-25 23:38:52" "" "" "SEQ-NG" "DNA" "" "" "0000415249" "00413969" "1" "04219" "04219" "2022-07-26 12:38:18" "" "" "PCR" "DNA" "" "" "0000415250" "00413970" "1" "04219" "04219" "2022-07-26 12:54:57" "" "" "PCR" "DNA" "" "" "0000415256" "00413976" "1" "04219" "04219" "2022-07-26 13:13:14" "" "" "SEQ-NG" "DNA" "" "" "0000415257" "00413977" "1" "04219" "04219" "2022-07-26 13:25:05" "" "" "SEQ-NG" "DNA" "" "" "0000415263" "00413983" "1" "04219" "04219" "2022-07-26 13:43:34" "" "" "SEQ-NG" "DNA" "" "" "0000415264" "00413984" "1" "04219" "04219" "2022-07-26 13:51:13" "" "" "?" "DNA" "" "" "0000415265" "00413985" "1" "04219" "04219" "2022-07-26 14:02:00" "" "" "?" "DNA" "" "" "0000415266" "00413986" "1" "04219" "04219" "2022-07-26 14:27:38" "" "" "SEQ-NG" "DNA" "" "" "0000415268" "00413988" "1" "04219" "04219" "2022-07-26 14:47:31" "" "" "SEQ-NG" "DNA" "" "" "0000415269" "00413989" "1" "04219" "04219" "2022-07-26 15:01:18" "" "" "?" "DNA" "" "" "0000415270" "00413990" "1" "04219" "04219" "2022-07-26 15:09:25" "" "" "SEQ-NG" "DNA" "" "" "0000415271" "00413991" "1" "04219" "04219" "2022-07-26 15:16:11" "" "" "SEQ-NG" "DNA" "" "" "0000415272" "00413992" "1" "04219" "04219" "2022-07-26 15:20:01" "" "" "SEQ-NG" "DNA" "" "" "0000415273" "00413993" "1" "03453" "03453" "2022-07-26 15:37:50" "" "" "SEQ-NG" "DNA" "" "" "0000415274" "00413994" "1" "03453" "03453" "2022-07-26 15:40:01" "" "" "SEQ-NG" "DNA" "" "" "0000415275" "00413995" "1" "03453" "03453" "2022-07-26 15:44:23" "" "" "SEQ-NG" "DNA" "" "" "0000415276" "00413996" "1" "03453" "03453" "2022-07-26 15:47:09" "" "" "SEQ-NG" "DNA" "" "" "0000415278" "00413998" "1" "03453" "03453" "2022-07-26 15:48:55" "" "" "SEQ-NG" "DNA" "" "" "0000415279" "00413999" "1" "03453" "03453" "2022-07-26 15:51:08" "" "" "SEQ-NG" "DNA" "" "" "0000415280" "00414000" "1" "03453" "03453" "2022-07-26 15:57:51" "" "" "SEQ-NG" "DNA" "" "" "0000415281" "00414001" "1" "03453" "03453" "2022-07-26 16:00:04" "" "" "SEQ-NG" "DNA" "" "" "0000415282" "00414002" "1" "03453" "03453" "2022-07-26 16:01:43" "" "" "SEQ-NG" "DNA" "" "" "0000415283" "00414004" "1" "03453" "03453" "2022-07-26 16:05:19" "" "" "SEQ-NG" "DNA" "" "" "0000415284" "00414005" "1" "04219" "04219" "2022-07-26 16:08:51" "" "" "?" "DNA" "" "" "0000415285" "00414006" "1" "04219" "04219" "2022-07-26 16:16:31" "" "" "?" "DNA" "" "" "0000415286" "00414007" "1" "04219" "04219" "2022-07-26 16:22:17" "" "" "SEQ-NG" "DNA" "" "" "0000415287" "00414008" "1" "04219" "04219" "2022-07-26 16:26:39" "" "" "SEQ-NG" "DNA" "" "" "0000415288" "00414009" "1" "03453" "03453" "2022-07-26 16:50:05" "" "" "SEQ-NG" "DNA" "" "" "0000415289" "00414010" "1" "03453" "03453" "2022-07-26 16:52:14" "" "" "SEQ-NG" "DNA" "" "" "0000415299" "00414020" "1" "03453" "03453" "2022-07-26 17:39:56" "" "" "SEQ-NG" "DNA" "" "" "0000415301" "00414022" "1" "03453" "03453" "2022-07-27 09:04:05" "" "" "SEQ-NG" "DNA" "" "" "0000415302" "00414023" "1" "03453" "03453" "2022-07-27 09:07:05" "" "" "SEQ-NG" "DNA" "" "" "0000415303" "00414024" "1" "03453" "03453" "2022-07-27 09:14:29" "" "" "SEQ-NG" "DNA" "" "" "0000415304" "00414025" "1" "03453" "03453" "2022-07-27 09:25:33" "" "" "SEQ-NG" "DNA" "" "" "0000415305" "00414026" "1" "03453" "03453" "2022-07-27 09:33:32" "" "" "SEQ-NG" "DNA" "" "" "0000415306" "00414027" "1" "03453" "03453" "2022-07-27 09:43:43" "" "" "SEQ-NG" "DNA" "" "" "0000415307" "00414028" "1" "03453" "03453" "2022-07-27 09:47:27" "" "" "SEQ-NG" "DNA" "" "" "0000415308" "00414029" "1" "03453" "03453" "2022-07-27 09:50:27" "" "" "SEQ-NG" "DNA" "" "" "0000415494" "00414214" "1" "03453" "03453" "2022-07-27 22:48:08" "" "" "SSCA" "DNA" "" "" "0000415495" "00414216" "1" "03453" "03453" "2022-07-27 23:10:49" "" "" "SEQ-NG" "DNA" "" "" "0000415496" "00414217" "1" "03453" "03453" "2022-07-27 23:16:41" "" "" "SEQ-NG" "DNA" "" "" "0000415498" "00414218" "1" "03453" "03453" "2022-07-27 23:34:47" "" "" "SEQ-NG" "DNA" "" "" "0000415499" "00414219" "1" "03453" "03453" "2022-07-27 23:39:13" "" "" "SEQ-NG" "DNA" "" "" "0000415500" "00414220" "1" "03453" "03453" "2022-07-27 23:52:30" "" "" "SEQ-NG" "DNA" "" "" "0000415501" "00414221" "1" "03453" "03453" "2022-07-28 00:21:01" "" "" "SEQ-NG" "DNA" "" "" "0000415502" "00414222" "1" "03453" "03453" "2022-07-28 00:23:24" "" "" "SEQ-NG" "DNA" "" "" "0000415503" "00414223" "1" "03453" "03453" "2022-07-28 00:26:15" "" "" "SEQ-NG" "DNA" "" "" "0000415504" "00414224" "1" "03453" "03453" "2022-07-28 00:31:29" "" "" "SEQ-NG" "DNA" "" "" "0000415505" "00414225" "1" "03453" "03453" "2022-07-28 00:34:25" "" "" "SEQ-NG" "DNA" "" "" "0000415506" "00414226" "1" "03453" "03453" "2022-07-28 00:36:35" "" "" "SEQ-NG" "DNA" "" "" "0000415507" "00414227" "1" "03453" "03453" "2022-07-28 00:38:37" "" "" "SEQ-NG" "DNA" "" "" "0000415508" "00414228" "1" "03453" "03453" "2022-07-28 00:40:22" "" "" "SEQ-NG" "DNA" "" "" "0000415509" "00414229" "1" "03453" "03453" "2022-07-28 00:42:05" "" "" "SEQ-NG" "DNA" "" "" "0000415510" "00414230" "1" "03453" "03453" "2022-07-28 00:43:54" "" "" "SEQ-NG" "DNA" "" "" "0000415511" "00414231" "1" "03453" "03453" "2022-07-28 00:48:08" "" "" "SEQ-NG" "DNA" "" "" "0000415512" "00414232" "1" "03453" "03453" "2022-07-28 00:49:37" "" "" "SEQ-NG" "DNA" "" "" "0000415513" "00414233" "1" "03453" "03453" "2022-07-28 00:51:51" "" "" "SEQ-NG" "DNA" "" "" "0000415514" "00414234" "1" "03453" "03453" "2022-07-28 10:04:51" "" "" "SEQ-NG" "DNA" "" "" "0000415515" "00414235" "1" "03453" "03453" "2022-07-28 10:12:00" "" "" "SEQ-NG" "DNA" "" "" "0000415517" "00414237" "1" "03453" "03453" "2022-07-28 10:34:56" "" "" "SEQ-NG" "DNA" "" "" "0000415518" "00414239" "1" "03453" "03453" "2022-07-28 10:39:16" "" "" "SEQ-NG" "DNA" "" "" "0000415519" "00414240" "1" "03453" "03453" "2022-07-28 10:41:48" "" "" "SEQ-NG" "DNA" "" "" "0000415521" "00414241" "1" "03453" "03453" "2022-07-28 10:45:51" "" "" "SEQ-NG" "DNA" "" "" "0000415522" "00414243" "1" "03453" "03453" "2022-07-28 10:48:06" "" "" "SEQ-NG" "DNA" "" "" "0000415524" "00414244" "1" "03453" "03453" "2022-07-28 10:52:06" "" "" "SEQ-NG" "DNA" "" "" "0000415525" "00414245" "1" "03453" "03453" "2022-07-28 10:53:52" "" "" "SEQ-NG" "DNA" "" "" "0000415526" "00414246" "1" "03453" "03453" "2022-07-28 10:55:10" "" "" "SEQ-NG" "DNA" "" "" "0000415527" "00414247" "1" "03453" "03453" "2022-07-28 10:56:34" "" "" "SEQ-NG" "DNA" "" "" "0000415529" "00414249" "1" "03453" "03453" "2022-07-28 11:03:37" "" "" "SEQ-NG" "DNA" "" "" "0000415530" "00414250" "1" "03453" "03453" "2022-07-28 11:08:35" "" "" "SEQ-NG" "DNA" "" "" "0000415532" "00414252" "1" "03453" "03453" "2022-07-28 11:18:27" "" "" "SEQ-NG" "DNA" "" "" "0000415534" "00414254" "1" "03453" "03453" "2022-07-28 11:24:12" "" "" "SEQ-NG" "DNA" "" "" "0000415535" "00414255" "1" "03453" "03453" "2022-07-28 11:29:00" "" "" "SEQ-NG" "DNA" "" "" "0000415536" "00414256" "1" "03453" "03453" "2022-07-28 11:31:05" "" "" "SEQ-NG" "DNA" "" "" "0000415537" "00414257" "1" "03453" "03453" "2022-07-28 11:32:23" "" "" "SEQ-NG" "DNA" "" "" "0000415538" "00414258" "1" "03453" "03453" "2022-07-28 11:33:47" "" "" "SEQ-NG" "DNA" "" "" "0000415539" "00414259" "1" "03453" "03453" "2022-07-28 11:35:26" "" "" "SEQ-NG" "DNA" "" "" "0000415540" "00414260" "1" "03453" "03453" "2022-07-28 11:36:51" "" "" "SEQ-NG" "DNA" "" "" "0000415541" "00414261" "1" "03453" "03453" "2022-07-28 11:38:24" "" "" "SEQ-NG" "DNA" "" "" "0000415770" "00414490" "1" "03453" "03453" "2022-07-28 15:16:12" "" "" "SEQ-NG" "DNA" "" "" "0000415772" "00414492" "1" "03453" "03453" "2022-07-28 15:27:17" "" "" "SEQ-NG" "DNA" "" "" "0000415774" "00414494" "1" "03453" "03453" "2022-07-28 15:31:57" "" "" "SEQ-NG" "DNA" "" "" "0000415776" "00414496" "1" "03453" "03453" "2022-07-28 15:37:00" "" "" "SEQ-NG" "DNA" "" "" "0000415777" "00414497" "1" "03453" "03453" "2022-07-28 15:40:15" "" "" "SEQ-NG" "DNA" "" "" "0000415778" "00414498" "1" "03453" "03453" "2022-07-28 15:42:48" "" "" "SEQ-NG" "DNA" "" "" "0000415780" "00414500" "1" "03453" "03453" "2022-07-28 15:44:40" "" "" "SEQ-NG" "DNA" "" "" "0000415781" "00414501" "1" "03453" "03453" "2022-07-28 15:46:36" "" "" "SEQ-NG" "DNA" "" "" "0000415783" "00414502" "1" "03453" "03453" "2022-07-28 15:48:00" "" "" "SEQ-NG" "DNA" "" "" "0000415784" "00414503" "1" "03453" "03453" "2022-07-28 15:49:30" "" "" "SEQ-NG" "DNA" "" "" "0000415785" "00414504" "1" "03453" "03453" "2022-07-28 15:50:56" "" "" "SEQ-NG" "DNA" "" "" "0000415786" "00414505" "1" "03453" "03453" "2022-07-28 15:52:57" "" "" "SEQ-NG" "DNA" "" "" "0000415787" "00414506" "1" "03453" "03453" "2022-07-28 15:54:30" "" "" "SEQ-NG" "DNA" "" "" "0000415788" "00414507" "1" "03453" "03453" "2022-07-28 15:55:55" "" "" "SEQ-NG" "DNA" "" "" "0000415790" "00414509" "1" "03453" "03453" "2022-07-28 15:58:36" "" "" "SEQ-NG" "DNA" "" "" "0000415791" "00414510" "1" "03453" "03453" "2022-07-28 16:00:42" "" "" "SEQ-NG" "DNA" "" "" "0000415792" "00414512" "1" "03453" "03453" "2022-07-28 16:04:17" "" "" "SEQ-NG" "DNA" "" "" "0000415794" "00414513" "1" "03453" "03453" "2022-07-28 16:06:23" "" "" "SEQ-NG" "DNA" "" "" "0000415795" "00414514" "1" "03453" "03453" "2022-07-28 16:07:58" "" "" "SEQ-NG" "DNA" "" "" "0000415796" "00414515" "1" "03453" "03453" "2022-07-28 16:11:28" "" "" "SEQ-NG" "DNA" "" "" "0000415797" "00414516" "1" "03453" "03453" "2022-07-28 16:12:46" "" "" "SEQ-NG" "DNA" "" "" "0000415798" "00414517" "1" "03453" "03453" "2022-07-28 16:13:58" "" "" "SEQ-NG" "DNA" "" "" "0000415799" "00414518" "1" "03453" "03453" "2022-07-28 16:15:40" "" "" "SEQ-NG" "DNA" "" "" "0000415800" "00414519" "1" "03453" "03453" "2022-07-28 16:17:14" "" "" "SEQ-NG" "DNA" "" "" "0000415801" "00414520" "1" "03453" "03453" "2022-07-28 16:20:23" "" "" "SEQ-NG" "DNA" "" "" "0000415802" "00414521" "1" "03453" "03453" "2022-07-28 16:21:52" "" "" "SEQ-NG" "DNA" "" "" "0000448317" "00446742" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448359" "00446784" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000453921" "00452319" "1" "04219" "04219" "2024-07-15 14:30:08" "" "" "SEQ-NG" "DNA" "" "" "0000453922" "00452320" "1" "04219" "04219" "2024-07-15 15:20:32" "" "" "SEQ-NG" "DNA" "" "" "0000454771" "00453160" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454772" "00453161" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{geneid}}" "0000016264" "ACTN2" "0000016264" "DSC2" "0000016264" "LDB3" "0000016264" "MYH7" "0000016264" "MYPN" "0000016264" "RYR2" "0000016264" "TTN" "0000073888" "ACTN2" "0000227299" "ACTN2" "0000266897" "ACTN2" "0000266898" "ACTN2" "0000266899" "ACTN2" "0000266900" "ACTN2" "0000266901" "ACTN2" "0000296800" "ACTN2" "0000296801" "ACTN2" "0000297041" "ACTN2" "0000297812" "ACTN2" "0000317394" "ACTN2" "0000317395" "ACTN2" "0000317396" "ACTN2" "0000317397" "ACTN2" "0000317398" "ACTN2" "0000317399" "ACTN2" "0000317400" "ACTN2" "0000318000" "ACTN2" "0000318001" "ACTN2" "0000318002" "ACTN2" "0000318267" "ACTN2" "0000318268" "ACTN2" "0000318269" "ACTN2" "0000318892" "ACTN2" "0000318893" "ACTN2" "0000318894" "ACTN2" "0000318895" "ACTN2" "0000318896" "ACTN2" "0000321443" "ACTN2" "0000321444" "ACTN2" "0000321445" "ACTN2" "0000406277" "ACTN2" "0000415210" "ACTN2" "0000415770" "A2M" "0000415792" "ACTN2" "0000415796" "ACTN2" "0000453922" "ACTN2" ## 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 = 733 "{{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}}" "0000036011" "1" "50" "1" "236902618" "236902618" "subst" "0.000479375" "00668" "ACTN2_000079" "g.236902618G>A" "" "{PMID:Vrijenhoek 2015:25626705}, {DOI:Vrijenhoek 2015:10.1038/ejhg.2014.279}" "" "" "" "Germline" "?" "" "0" "" "" "g.236739318G>A" "" "VUS" "" "0000096950" "0" "70" "1" "236925905" "236925905" "subst" "0" "01602" "ACTN2_000101" "g.236925905G>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "association with disease phenotype not proven" "Germline" "?" "" "0" "" "" "g.236762605G>T" "" "likely pathogenic (dominant)" "" "0000117651" "0" "90" "1" "0" "0" "" "0" "00006" "ACTN2_000082" "g.?" "" "{DOI:Fatkin 2016:10.1016/j.ppedcard.2016.01.003}" "" "W259X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000169220" "0" "70" "1" "236912449" "236912449" "subst" "4.06184E-6" "00587" "ACTN2_000102" "g.236912449T>C" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001103.3(ACTN2):c.1541T>C p.(Ile514Thr)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.236749149T>C" "" "likely pathogenic" "" "0000218448" "0" "50" "1" "236902618" "236902618" "subst" "0.000479375" "02244" "ACTN2_000079" "g.236902618G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.236739318G>A" "" "VUS" "" "0000218486" "0" "50" "1" "236918402" "236918402" "subst" "0" "02244" "ACTN2_000104" "g.236918402C>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.236755102C>G" "" "VUS" "" "0000218501" "0" "50" "1" "236907962" "236907962" "subst" "0.000292502" "02244" "ACTN2_000103" "g.236907962C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.236744662C>T" "" "VUS" "" "0000245382" "0" "10" "1" "236914923" "236914923" "subst" "0.00475885" "02330" "ACTN2_000184" "g.236914923A>G" "" "" "" "ACTN2(NM_001103.2):c.1810A>G (p.(Met604Val)), ACTN2(NM_001103.3):c.1810A>G (p.M604V), ACTN2(NM_001103.4):c.1810A>G (p.M604V), ACTN2(NM_001278344.2)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751623A>G" "" "benign" "" "0000245432" "0" "50" "1" "236925821" "236925821" "subst" "8.12724E-6" "02330" "ACTN2_000214" "g.236925821A>C" "" "" "" "ACTN2(NM_001278344.2):c.1963A>C (p.I655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762521A>C" "" "VUS" "" "0000245532" "0" "30" "1" "236912427" "236912427" "subst" "0.000109679" "02330" "ACTN2_000172" "g.236912427A>G" "" "" "" "ACTN2(NM_001278344.2):c.895A>G (p.M299V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236749127A>G" "" "likely benign" "" "0000245579" "0" "50" "1" "236912554" "236912554" "subst" "8.12242E-6" "02330" "ACTN2_000174" "g.236912554A>T" "" "" "" "ACTN2(NM_001278344.2):c.1022A>T (p.E341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236749254A>T" "" "VUS" "" "0000245599" "0" "50" "1" "236918395" "236918395" "subst" "4.06091E-6" "02330" "ACTN2_000195" "g.236918395A>T" "" "" "" "ACTN2(NM_001278344.2):c.1427A>T (p.N476I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755095A>T" "" "VUS" "" "0000247872" "0" "30" "1" "236914923" "236914923" "subst" "0.00475885" "02325" "ACTN2_000184" "g.236914923A>G" "" "" "" "ACTN2(NM_001103.2):c.1810A>G (p.(Met604Val)), ACTN2(NM_001103.3):c.1810A>G (p.M604V), ACTN2(NM_001103.4):c.1810A>G (p.M604V), ACTN2(NM_001278344.2)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751623A>G" "" "likely benign" "" "0000249304" "0" "30" "1" "236925821" "236925821" "subst" "8.12724E-6" "02325" "ACTN2_000214" "g.236925821A>C" "" "" "" "ACTN2(NM_001278344.2):c.1963A>C (p.I655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762521A>C" "" "likely benign" "" "0000249741" "0" "50" "1" "236882236" "236882236" "subst" "0" "02325" "ACTN2_000112" "g.236882236A>C" "" "" "" "ACTN2(NM_001103.4):c.284A>C (p.H95P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236718936A>C" "" "VUS" "" "0000250654" "0" "10" "1" "236914923" "236914923" "subst" "0.00475885" "02326" "ACTN2_000184" "g.236914923A>G" "" "" "" "ACTN2(NM_001103.2):c.1810A>G (p.(Met604Val)), ACTN2(NM_001103.3):c.1810A>G (p.M604V), ACTN2(NM_001103.4):c.1810A>G (p.M604V), ACTN2(NM_001278344.2)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751623A>G" "" "benign" "" "0000250814" "0" "30" "1" "236907913" "236907913" "subst" "2.84717E-5" "02326" "ACTN2_000148" "g.236907913A>T" "" "" "" "ACTN2(NM_001103.3):c.1256-13A>T, ACTN2(NM_001278344.2):c.632-13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744613A>T" "" "likely benign" "" "0000253006" "0" "10" "1" "236914923" "236914923" "subst" "0.00475885" "01943" "ACTN2_000184" "g.236914923A>G" "" "" "" "ACTN2(NM_001103.2):c.1810A>G (p.(Met604Val)), ACTN2(NM_001103.3):c.1810A>G (p.M604V), ACTN2(NM_001103.4):c.1810A>G (p.M604V), ACTN2(NM_001278344.2)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751623A>G" "" "benign" "" "0000254033" "0" "30" "1" "236907913" "236907913" "subst" "2.84717E-5" "01943" "ACTN2_000148" "g.236907913A>T" "" "" "" "ACTN2(NM_001103.3):c.1256-13A>T, ACTN2(NM_001278344.2):c.632-13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744613A>T" "" "likely benign" "" "0000257253" "0" "10" "1" "236894624" "236894627" "del" "0" "02330" "ACTN2_000127" "g.236894624_236894627del" "" "" "" "ACTN2(NM_001278344.2):c.-125+10_-125+13delAAAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236731324_236731327del" "" "benign" "" "0000257254" "0" "10" "1" "236891071" "236891071" "subst" "0.000105602" "02330" "ACTN2_000125" "g.236891071C>T" "" "" "" "ACTN2(NM_001103.3):c.615+15C>T, ACTN2(NM_001103.4):c.615+15C>T, ACTN2(NM_001278344.2):c.-207+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236727771C>T" "" "benign" "" "0000257255" "0" "10" "1" "236881150" "236881150" "subst" "8.13054E-6" "02330" "ACTN2_000108" "g.236881150C>G" "" "" "" "ACTN2(NM_001278344.2):c.-695-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236717850C>G" "" "benign" "" "0000257256" "0" "10" "1" "236914754" "236914754" "subst" "0.00102154" "02330" "ACTN2_000177" "g.236914754T>C" "" "" "" "ACTN2(NM_001103.3):c.1657-16T>C, ACTN2(NM_001278344.2):c.1033-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751454T>C" "" "benign" "" "0000257257" "0" "10" "1" "236914781" "236914781" "subst" "0" "02330" "ACTN2_000178" "g.236914781T>G" "" "" "" "ACTN2(NM_001278344.2):c.1044T>G (p.T348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751481T>G" "" "benign" "" "0000257258" "0" "10" "1" "236914806" "236914806" "subst" "0.000101539" "02330" "ACTN2_000179" "g.236914806C>T" "" "" "" "ACTN2(NM_001278344.2):c.1069C>T (p.L357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751506C>T" "" "benign" "" "0000257259" "0" "10" "1" "236914817" "236914817" "subst" "0.000134032" "02330" "ACTN2_000180" "g.236914817G>A" "" "" "" "ACTN2(NM_001103.3):c.1704G>A (p.A568=), ACTN2(NM_001278344.2):c.1080G>A (p.A360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751517G>A" "" "benign" "" "0000257260" "0" "70" "1" "236902824" "236902827" "del" "0" "02330" "ACTN2_000142" "g.236902824_236902827del" "" "" "" "ACTN2(NM_001103.4):c.1099_1102delATGG (p.M367Cfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739524_236739527del" "" "likely pathogenic" "" "0000257261" "0" "10" "1" "236917271" "236917271" "subst" "0.000219336" "02330" "ACTN2_000186" "g.236917271G>A" "" "" "" "ACTN2(NM_001103.3):c.1864G>A (p.D622N), ACTN2(NM_001103.4):c.1864G>A (p.(Asp622Asn)), ACTN2(NM_001278344.2):c.1240G>A (p.D414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236753971G>A" "" "benign" "" "0000257262" "0" "50" "1" "236917325" "236917325" "subst" "1.21947E-5" "02330" "ACTN2_000187" "g.236917325C>T" "" "" "" "ACTN2(NM_001278344.2):c.1294C>T (p.R432C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236754025C>T" "" "VUS" "" "0000257263" "0" "10" "1" "236907966" "236907966" "subst" "0.0154601" "02330" "ACTN2_000149" "g.236907966G>A" "" "" "" "ACTN2(NM_001103.3):c.1296G>A (p.A432=), ACTN2(NM_001103.4):c.1296G>A (p.A432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744666G>A" "" "benign" "" "0000257264" "0" "10" "1" "236908011" "236908011" "subst" "0.00257688" "02330" "ACTN2_000153" "g.236908011C>T" "" "" "" "ACTN2(NM_001103.3):c.1341C>T (p.F447=), ACTN2(NM_001103.4):c.1341C>T (p.F447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744711C>T" "" "benign" "" "0000257265" "0" "10" "1" "236918307" "236918307" "subst" "9.34071E-5" "02330" "ACTN2_000192" "g.236918307C>T" "" "" "" "ACTN2(NM_001103.3):c.1975-12C>T, ACTN2(NM_001278344.2):c.1351-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755007C>T" "" "benign" "" "0000257266" "0" "10" "1" "236918313" "236918313" "subst" "0.00105991" "02330" "ACTN2_000193" "g.236918313C>G" "" "" "" "ACTN2(NM_001103.3):c.1975-6C>G, ACTN2(NM_001278344.2):c.1351-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755013C>G" "" "benign" "" "0000257267" "0" "10" "1" "236908041" "236908041" "subst" "0.0013344" "02330" "ACTN2_000155" "g.236908041C>T" "" "" "" "ACTN2(NM_001103.3):c.1371C>T (p.R457=), ACTN2(NM_001103.4):c.1371C>T (p.R457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744741C>T" "" "benign" "" "0000257268" "0" "10" "1" "236918471" "236918471" "subst" "4.88003E-5" "02330" "ACTN2_000198" "g.236918471C>T" "" "" "" "ACTN2(NM_001278344.2):c.1503C>T (p.D501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755171C>T" "" "benign" "" "0000257269" "0" "10" "1" "236918483" "236918483" "subst" "0.00794834" "02330" "ACTN2_000199" "g.236918483G>A" "" "" "" "ACTN2(NM_001103.3):c.2139G>A (p.T713=), ACTN2(NM_001278344.2):c.1515G>A (p.T505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755183G>A" "" "benign" "" "0000257270" "0" "10" "1" "236918492" "236918492" "subst" "0.000114207" "02330" "ACTN2_000200" "g.236918492G>A" "" "" "" "ACTN2(NM_001103.3):c.2148G>A (p.T716=), ACTN2(NM_001278344.2):c.1524G>A (p.T508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755192G>A" "" "benign" "" "0000257271" "0" "10" "1" "236881196" "236881196" "subst" "0.000166519" "02330" "ACTN2_000109" "g.236881196C>T" "" "" "" "ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236717896C>T" "" "benign" "" "0000257272" "0" "50" "1" "236881197" "236881197" "subst" "4.87389E-5" "02330" "ACTN2_000110" "g.236881197G>A" "" "" "" "ACTN2(NM_001103.4):c.166G>A (p.G56S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236717897G>A" "" "VUS" "" "0000257273" "0" "50" "1" "236900432" "236900432" "subst" "4.06273E-6" "02330" "ACTN2_000132" "g.236900432C>T" "" "" "" "ACTN2(NM_001278344.2):c.170C>T (p.A57V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236737132C>T" "" "VUS" "" "0000257274" "0" "50" "1" "236924314" "236924314" "subst" "0" "02330" "ACTN2_000204" "g.236924314G>A" "" "" "" "ACTN2(NM_001278344.2):c.1744-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236761014G>A" "" "VUS" "" "0000257275" "0" "10" "1" "236924359" "236924359" "subst" "9.74548E-5" "02330" "ACTN2_000208" "g.236924359C>T" "" "" "" "ACTN2(NM_001278344.2):c.1788C>T (p.N596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236761059C>T" "" "benign" "" "0000257276" "0" "10" "1" "236849991" "236849991" "subst" "9.29653E-5" "02330" "ACTN2_000106" "g.236849991C>T" "" "" "" "ACTN2(NM_001103.4):c.18C>T (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236686691C>T" "" "benign" "" "0000257277" "0" "10" "1" "236917339" "236917339" "subst" "0.000711469" "02330" "ACTN2_000189" "g.236917339C>A" "" "" "" "ACTN2(NM_001103.3):c.1932C>A (p.A644=), ACTN2(NM_001103.4):c.1932C>A (p.A644=), ACTN2(NM_001278344.2):c.1308C>A (p.A436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236754039C>A" "" "benign" "" "0000257278" "0" "10" "1" "236925844" "236925844" "subst" "0.168497" "02330" "ACTN2_000217" "g.236925844G>A" "" "" "" "ACTN2(NM_001103.4):c.2610G>A (p.S870=), ACTN2(NM_001278344.2):c.1986G>A (p.S662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762544G>A" "" "benign" "" "0000257279" "0" "10" "1" "236924298" "236924298" "subst" "0.00785323" "02330" "ACTN2_000203" "g.236924298T>C" "" "" "" "ACTN2(NM_001103.3):c.2368-17T>C, ACTN2(NM_001103.4):c.2368-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236760998T>C" "" "benign" "" "0000257280" "0" "10" "1" "236900508" "236900508" "subst" "0.00125969" "02330" "ACTN2_000133" "g.236900508G>A" "" "" "" "ACTN2(NM_001103.3):c.870G>A (p.A290=), ACTN2(NM_001278344.2):c.246G>A (p.A82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236737208G>A" "" "benign" "" "0000257281" "0" "10" "1" "236902596" "236902596" "subst" "0.000166589" "02330" "ACTN2_000136" "g.236902596G>A" "" "" "" "ACTN2(NM_001103.3):c.877-6G>A, ACTN2(NM_001278344.2):c.253-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739296G>A" "" "benign" "" "0000257282" "0" "10" "1" "236902594" "236902594" "subst" "0.775452" "02330" "ACTN2_000135" "g.236902594C>G" "" "" "" "ACTN2(NM_001103.3):c.877-8C>G, ACTN2(NM_001103.4):c.877-8C>G, ACTN2(NM_001278344.2):c.253-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739294C>G" "" "benign" "" "0000257283" "0" "50" "1" "236925803" "236925803" "subst" "2.43924E-5" "02330" "ACTN2_000212" "g.236925803G>C" "" "" "" "ACTN2(NM_001103.3):c.2569G>C (p.D857H), ACTN2(NM_001103.4):c.2569G>C (p.D857H), ACTN2(NM_001278344.2):c.1945G>C (p.D649H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762503G>C" "" "VUS" "" "0000257284" "0" "10" "1" "236925835" "236925835" "subst" "0.000308833" "02330" "ACTN2_000215" "g.236925835C>T" "" "" "" "ACTN2(NM_001103.3):c.2601C>T (p.P867=), ACTN2(NM_001103.4):c.2601C>T (p.(Pro867=), p.P867=), ACTN2(NM_001278344.2):c.1977C>T (p.P659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762535C>T" "" "benign" "" "0000257285" "0" "10" "1" "236925883" "236925883" "subst" "0.000719132" "02330" "ACTN2_000219" "g.236925883G>A" "" "" "" "ACTN2(NM_001103.3):c.2649G>A (p.A883=), ACTN2(NM_001103.4):c.2649G>A (p.(Ala883=)), ACTN2(NM_001278344.2):c.2025G>A (p.A675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762583G>A" "" "benign" "" "0000257286" "0" "10" "1" "236925901" "236925901" "subst" "4.06527E-6" "02330" "ACTN2_000221" "g.236925901C>T" "" "" "" "ACTN2(NM_001103.4):c.2667C>T (p.Y889=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762601C>T" "" "benign" "" "0000257287" "0" "10" "1" "236898999" "236898999" "subst" "2.43669E-5" "02330" "ACTN2_000130" "g.236898999C>T" "" "" "" "ACTN2(NM_001278344.2):c.27C>T (p.H9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236735699C>T" "" "benign" "" "0000257288" "0" "10" "1" "236882303" "236882303" "subst" "0.998449" "02330" "ACTN2_000114" "g.236882303T>C" "" "" "" "ACTN2(NM_001103.4):c.351T>C (p.I117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000257289" "0" "10" "1" "236883421" "236883421" "subst" "0.96185" "02330" "ACTN2_000117" "g.236883421C>T" "" "" "" "ACTN2(NM_001103.4):c.378C>T (p.N126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000257291" "0" "50" "1" "236883476" "236883476" "subst" "0" "02330" "ACTN2_000119" "g.236883476G>T" "" "" "" "ACTN2(NM_001103.4):c.433G>T (p.D145Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236720176G>T" "" "VUS" "" "0000257292" "0" "10" "1" "236883484" "236883484" "subst" "0.000312871" "02330" "ACTN2_000120" "g.236883484G>A" "" "" "" "ACTN2(NM_001103.3):c.441G>A (p.S147=), ACTN2(NM_001103.4):c.441G>A (p.S147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236720184G>A" "" "benign" "" "0000257293" "0" "50" "1" "236906247" "236906247" "subst" "0" "02330" "ACTN2_000143" "g.236906247G>C" "" "" "" "ACTN2(NM_001278344.2):c.535G>C (p.E179Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742947G>C" "" "VUS" "" "0000257294" "0" "50" "1" "236906250" "236906250" "subst" "6.90322E-5" "02330" "ACTN2_000144" "g.236906250T>A" "" "" "" "ACTN2(NM_001103.3):c.1162T>A (p.W388R), ACTN2(NM_001103.4):c.1162T>A (p.W388R), ACTN2(NM_001278344.1):c.538T>A (p.W180R), ACTN2(NM_001278344.2):c.5..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742950T>A" "" "VUS" "" "0000257295" "0" "50" "1" "236906280" "236906280" "subst" "2.03054E-5" "02330" "ACTN2_000146" "g.236906280C>T" "" "" "" "ACTN2(NM_001103.3):c.1192C>T (p.R398C), ACTN2(NM_001278344.1):c.568C>T (p.R190C), ACTN2(NM_001278344.2):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742980C>T" "" "VUS" "" "0000257296" "0" "10" "1" "236894530" "236894530" "subst" "4.06352E-5" "02330" "ACTN2_000126" "g.236894530C>T" "" "" "" "ACTN2(NM_001103.3):c.616-3C>T, ACTN2(NM_001103.4):c.616-3C>T, ACTN2(NM_001278344.2):c.-206-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236731230C>T" "" "benign" "" "0000257297" "0" "10" "1" "236898942" "236898942" "subst" "0.0152182" "02330" "ACTN2_000128" "g.236898942G>C" "" "" "" "ACTN2(NM_001103.4):c.705G>C (p.V235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236735642G>C" "" "benign" "" "0000257298" "0" "50" "1" "236908012" "236908012" "subst" "4.06451E-6" "02330" "ACTN2_000154" "g.236908012G>C" "" "" "" "ACTN2(NM_001278344.2):c.718G>C (p.E240Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744712G>C" "" "VUS" "" "0000257299" "0" "10" "1" "236908053" "236908053" "subst" "0.00104673" "02330" "ACTN2_000156" "g.236908053C>T" "" "" "" "ACTN2(NM_001103.3):c.1383C>T (p.I461=), ACTN2(NM_001103.4):c.1383C>T (p.I461=), ACTN2(NM_001278344.1):c.759C>T (p.I253=), ACTN2(NM_001278344.2):c.7..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744753C>T" "" "benign" "" "0000257300" "0" "10" "1" "236910982" "236910982" "subst" "0" "02330" "ACTN2_000160" "g.236910982C>T" "" "" "" "ACTN2(NM_001278344.2):c.798C>T (p.H266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747682C>T" "" "benign" "" "0000257301" "0" "10" "1" "236910983" "236910983" "subst" "0.00746541" "02330" "ACTN2_000161" "g.236910983G>A" "" "" "" "ACTN2(NM_001103.3):c.1423G>A (p.D475N), ACTN2(NM_001278344.2):c.799G>A (p.D267N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747683G>A" "" "benign" "" "0000257302" "0" "10" "1" "236910985" "236910985" "subst" "4.46784E-5" "02330" "ACTN2_000162" "g.236910985C>T" "" "" "" "ACTN2(NM_001278344.2):c.801C>T (p.D267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747685C>T" "" "benign" "" "0000257303" "0" "10" "1" "236910986" "236910986" "subst" "0.000398044" "02330" "ACTN2_000163" "g.236910986G>A" "" "" "" "ACTN2(NM_001103.3):c.1426G>A (p.A476T), ACTN2(NM_001278344.2):c.802G>A (p.A268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747686G>A" "" "benign" "" "0000257304" "0" "10" "1" "236911045" "236911045" "subst" "4.06306E-5" "02330" "ACTN2_000170" "g.236911045G>A" "" "" "" "ACTN2(NM_001278344.2):c.861G>A (p.T287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747745G>A" "" "benign" "" "0000257305" "0" "10" "1" "236911090" "236911090" "subst" "0.000401713" "02330" "ACTN2_000171" "g.236911090C>T" "" "" "" "ACTN2(NM_001103.3):c.1515+15C>T, ACTN2(NM_001278344.2):c.891+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747790C>T" "" "benign" "" "0000257306" "0" "50" "1" "236912449" "236912449" "subst" "4.06184E-6" "02330" "ACTN2_000102" "g.236912449T>C" "" "" "" "ACTN2(NM_001103.3):c.1541T>C (p.I514T), ACTN2(NM_001278344.2):c.917T>C (p.I306T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236749149T>C" "" "VUS" "" "0000258718" "0" "10" "1" "236925844" "236925844" "subst" "0.168497" "02325" "ACTN2_000217" "g.236925844G>A" "" "" "" "ACTN2(NM_001103.4):c.2610G>A (p.S870=), ACTN2(NM_001278344.2):c.1986G>A (p.S662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762544G>A" "" "benign" "" "0000258719" "0" "10" "1" "236902594" "236902594" "subst" "0.775452" "02325" "ACTN2_000135" "g.236902594C>G" "" "" "" "ACTN2(NM_001103.3):c.877-8C>G, ACTN2(NM_001103.4):c.877-8C>G, ACTN2(NM_001278344.2):c.253-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739294C>G" "" "benign" "" "0000258720" "0" "10" "1" "236882303" "236882303" "subst" "0.998449" "02325" "ACTN2_000114" "g.236882303T>C" "" "" "" "ACTN2(NM_001103.4):c.351T>C (p.I117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000258721" "0" "10" "1" "236883421" "236883421" "subst" "0.96185" "02325" "ACTN2_000117" "g.236883421C>T" "" "" "" "ACTN2(NM_001103.4):c.378C>T (p.N126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000258918" "0" "10" "1" "236849952" "236849952" "subst" "0.0262499" "02325" "ACTN2_000105" "g.236849952C>T" "" "" "" "ACTN2(NM_001103.3):c.-22C>T, ACTN2(NM_001103.4):c.-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236686652C>T" "" "benign" "" "0000258919" "0" "10" "1" "236899904" "236899904" "del" "0" "02325" "ACTN2_000131" "g.236899904del" "" "" "" "ACTN2(NM_001278344.2):c.95delC (p.P32Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236736604del" "" "benign" "" "0000259299" "0" "30" "1" "236891071" "236891071" "subst" "0.000105602" "02325" "ACTN2_000125" "g.236891071C>T" "" "" "" "ACTN2(NM_001103.3):c.615+15C>T, ACTN2(NM_001103.4):c.615+15C>T, ACTN2(NM_001278344.2):c.-207+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236727771C>T" "" "likely benign" "" "0000259300" "0" "30" "1" "236914754" "236914754" "subst" "0.00102154" "02325" "ACTN2_000177" "g.236914754T>C" "" "" "" "ACTN2(NM_001103.3):c.1657-16T>C, ACTN2(NM_001278344.2):c.1033-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751454T>C" "" "likely benign" "" "0000259301" "0" "30" "1" "236914806" "236914806" "subst" "0.000101539" "02325" "ACTN2_000179" "g.236914806C>T" "" "" "" "ACTN2(NM_001278344.2):c.1069C>T (p.L357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751506C>T" "" "likely benign" "" "0000259302" "0" "30" "1" "236908011" "236908011" "subst" "0.00257688" "02325" "ACTN2_000153" "g.236908011C>T" "" "" "" "ACTN2(NM_001103.3):c.1341C>T (p.F447=), ACTN2(NM_001103.4):c.1341C>T (p.F447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744711C>T" "" "likely benign" "" "0000259303" "0" "30" "1" "236918307" "236918307" "subst" "9.34071E-5" "02325" "ACTN2_000192" "g.236918307C>T" "" "" "" "ACTN2(NM_001103.3):c.1975-12C>T, ACTN2(NM_001278344.2):c.1351-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755007C>T" "" "likely benign" "" "0000259304" "0" "30" "1" "236908041" "236908041" "subst" "0.0013344" "02325" "ACTN2_000155" "g.236908041C>T" "" "" "" "ACTN2(NM_001103.3):c.1371C>T (p.R457=), ACTN2(NM_001103.4):c.1371C>T (p.R457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744741C>T" "" "likely benign" "" "0000259305" "0" "30" "1" "236917339" "236917339" "subst" "0.000711469" "02325" "ACTN2_000189" "g.236917339C>A" "" "" "" "ACTN2(NM_001103.3):c.1932C>A (p.A644=), ACTN2(NM_001103.4):c.1932C>A (p.A644=), ACTN2(NM_001278344.2):c.1308C>A (p.A436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236754039C>A" "" "likely benign" "" "0000259306" "0" "30" "1" "236925835" "236925835" "subst" "0.000308833" "02325" "ACTN2_000215" "g.236925835C>T" "" "" "" "ACTN2(NM_001103.3):c.2601C>T (p.P867=), ACTN2(NM_001103.4):c.2601C>T (p.(Pro867=), p.P867=), ACTN2(NM_001278344.2):c.1977C>T (p.P659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762535C>T" "" "likely benign" "" "0000259307" "0" "30" "1" "236925883" "236925883" "subst" "0.000719132" "02325" "ACTN2_000219" "g.236925883G>A" "" "" "" "ACTN2(NM_001103.3):c.2649G>A (p.A883=), ACTN2(NM_001103.4):c.2649G>A (p.(Ala883=)), ACTN2(NM_001278344.2):c.2025G>A (p.A675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762583G>A" "" "likely benign" "" "0000259308" "0" "30" "1" "236894530" "236894530" "subst" "4.06352E-5" "02325" "ACTN2_000126" "g.236894530C>T" "" "" "" "ACTN2(NM_001103.3):c.616-3C>T, ACTN2(NM_001103.4):c.616-3C>T, ACTN2(NM_001278344.2):c.-206-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236731230C>T" "" "likely benign" "" "0000259309" "0" "30" "1" "236908053" "236908053" "subst" "0.00104673" "02325" "ACTN2_000156" "g.236908053C>T" "" "" "" "ACTN2(NM_001103.3):c.1383C>T (p.I461=), ACTN2(NM_001103.4):c.1383C>T (p.I461=), ACTN2(NM_001278344.1):c.759C>T (p.I253=), ACTN2(NM_001278344.2):c.7..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744753C>T" "" "likely benign" "" "0000259310" "0" "30" "1" "236910986" "236910986" "subst" "0.000398044" "02325" "ACTN2_000163" "g.236910986G>A" "" "" "" "ACTN2(NM_001103.3):c.1426G>A (p.A476T), ACTN2(NM_001278344.2):c.802G>A (p.A268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747686G>A" "" "likely benign" "" "0000259388" "0" "30" "1" "236912576" "236912576" "subst" "4.06243E-6" "02325" "ACTN2_000175" "g.236912576G>T" "" "" "" "ACTN2(NM_001278344.2):c.1032+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236749276G>T" "" "likely benign" "" "0000259389" "0" "30" "1" "236912580" "236912580" "subst" "0" "02325" "ACTN2_000176" "g.236912580C>T" "" "" "" "ACTN2(NM_001278344.1):c.1032+16C>T, ACTN2(NM_001278344.2):c.1032+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236749280C>T" "" "likely benign" "" "0000259390" "0" "30" "1" "236914853" "236914853" "subst" "2.8428E-5" "02325" "ACTN2_000181" "g.236914853C>T" "" "" "" "ACTN2(NM_001278344.2):c.1116C>T (p.N372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751553C>T" "" "likely benign" "" "0000259391" "0" "30" "1" "236914936" "236914936" "subst" "6.50417E-5" "02325" "ACTN2_000185" "g.236914936G>A" "" "" "" "ACTN2(NM_001278344.2):c.1199G>A (p.R400Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751636G>A" "" "likely benign" "" "0000259392" "0" "30" "1" "236911012" "236911012" "subst" "0.000450798" "02325" "ACTN2_000166" "g.236911012G>A" "" "" "" "ACTN2(NM_001103.3):c.1452G>A (p.Q484=), ACTN2(NM_001103.4):c.1452G>A (p.Q484=), ACTN2(NM_001278344.2):c.828G>A (p.Q276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747712G>A" "" "likely benign" "" "0000259393" "0" "30" "1" "236925856" "236925856" "subst" "4.06227E-6" "02325" "ACTN2_000218" "g.236925856T>C" "" "" "" "ACTN2(NM_001278344.2):c.1998T>C (p.S666=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762556T>C" "" "likely benign" "" "0000259394" "0" "30" "1" "236918420" "236918420" "subst" "0.000288355" "02325" "ACTN2_000197" "g.236918420C>T" "" "" "" "ACTN2(NM_001103.3):c.2076C>T (p.I692=), ACTN2(NM_001103.4):c.2076C>T (p.I692=), ACTN2(NM_001278344.1):c.1452C>T (p.I484=), ACTN2(NM_001278344.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755120C>T" "" "likely benign" "" "0000259395" "0" "30" "1" "236925802" "236925802" "subst" "0.000182976" "02325" "ACTN2_000211" "g.236925802G>A" "" "" "" "ACTN2(NM_001103.3):c.2568G>A (p.P856=), ACTN2(NM_001103.4):c.2568G>A (p.P856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762502G>A" "" "likely benign" "" "0000259396" "0" "30" "1" "236882306" "236882306" "subst" "6.0931E-5" "02325" "ACTN2_000116" "g.236882306C>T" "" "" "" "ACTN2(NM_001103.4):c.354C>T (p.G118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236719006C>T" "" "likely benign" "" "0000259397" "0" "30" "1" "236908092" "236908092" "del" "0" "02325" "ACTN2_000158" "g.236908092del" "" "" "" "ACTN2(NM_001103.3):c.1406+16delC, ACTN2(NM_001278344.2):c.782+16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744792del" "" "likely benign" "" "0000259398" "0" "30" "1" "236911018" "236911018" "subst" "0" "02325" "ACTN2_000168" "g.236911018T>C" "" "" "" "ACTN2(NM_001278344.2):c.834T>C (p.I278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747718T>C" "" "likely benign" "" "0000259399" "0" "30" "1" "236902652" "236902652" "subst" "0.000113713" "02325" "ACTN2_000139" "g.236902652C>T" "" "" "" "ACTN2(NM_001103.3):c.927C>T (p.P309=), ACTN2(NM_001103.4):c.927C>T (p.P309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739352C>T" "" "likely benign" "" "0000259594" "0" "50" "1" "236925803" "236925803" "subst" "2.43924E-5" "02325" "ACTN2_000212" "g.236925803G>C" "" "" "" "ACTN2(NM_001103.3):c.2569G>C (p.D857H), ACTN2(NM_001103.4):c.2569G>C (p.D857H), ACTN2(NM_001278344.2):c.1945G>C (p.D649H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762503G>C" "" "VUS" "" "0000259595" "0" "50" "1" "236906250" "236906250" "subst" "6.90322E-5" "02325" "ACTN2_000144" "g.236906250T>A" "" "" "" "ACTN2(NM_001103.3):c.1162T>A (p.W388R), ACTN2(NM_001103.4):c.1162T>A (p.W388R), ACTN2(NM_001278344.1):c.538T>A (p.W180R), ACTN2(NM_001278344.2):c.5..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742950T>A" "" "VUS" "" "0000259596" "0" "50" "1" "236906280" "236906280" "subst" "2.03054E-5" "02325" "ACTN2_000146" "g.236906280C>T" "" "" "" "ACTN2(NM_001103.3):c.1192C>T (p.R398C), ACTN2(NM_001278344.1):c.568C>T (p.R190C), ACTN2(NM_001278344.2):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742980C>T" "" "VUS" "" "0000259613" "0" "50" "1" "236902765" "236902765" "subst" "0.000138073" "02325" "ACTN2_000141" "g.236902765C>T" "" "" "" "ACTN2(NM_001103.4):c.1040C>T (p.T347M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739465C>T" "" "VUS" "" "0000259614" "0" "50" "1" "236910986" "236910986" "subst" "4.46784E-5" "02325" "ACTN2_000164" "g.236910986G>T" "" "" "" "ACTN2(NM_001103.3):c.1426G>T (p.A476S), ACTN2(NM_001103.4):c.1426G>T (p.A476S), ACTN2(NM_001278344.2):c.802G>T (p.A268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747686G>T" "" "VUS" "" "0000259615" "0" "50" "1" "236911004" "236911004" "subst" "6.49846E-5" "02325" "ACTN2_000165" "g.236911004C>T" "" "" "" "ACTN2(NM_001103.3):c.1444C>T (p.R482W), ACTN2(NM_001103.4):c.1444C>T (p.R482W), ACTN2(NM_001278344.2):c.820C>T (p.R274W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747704C>T" "" "VUS" "" "0000259616" "0" "50" "1" "236911044" "236911044" "subst" "0.00026814" "02325" "ACTN2_000169" "g.236911044C>T" "" "" "" "ACTN2(NM_001103.3):c.1484C>T (p.T495M), ACTN2(NM_001103.4):c.1484C>T (p.(Thr495Met)), ACTN2(NM_001278344.2):c.860C>T (p.T287M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747744C>T" "" "VUS" "" "0000259617" "0" "50" "1" "236920793" "236920793" "subst" "2.84259E-5" "02325" "ACTN2_000201" "g.236920793G>A" "" "" "" "ACTN2(NM_001278344.2):c.1538G>A (p.R513H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236757493G>A" "" "VUS" "" "0000259618" "0" "50" "1" "236924334" "236924334" "subst" "8.1213E-6" "02325" "ACTN2_000207" "g.236924334G>A" "" "" "" "ACTN2(NM_001278344.2):c.1763G>A (p.R588H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236761034G>A" "" "VUS" "" "0000259619" "0" "50" "1" "236925786" "236925786" "subst" "4.87904E-5" "02325" "ACTN2_000209" "g.236925786G>A" "" "" "" "ACTN2(NM_001278344.2):c.1928G>A (p.R643H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762486G>A" "" "VUS" "" "0000259620" "0" "50" "1" "236925911" "236925911" "subst" "0.000109868" "02325" "ACTN2_000222" "g.236925911G>A" "" "" "" "ACTN2(NM_001278344.2):c.2053G>A (p.D685N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762611G>A" "" "VUS" "" "0000259621" "0" "50" "1" "236924333" "236924333" "subst" "1.21819E-5" "02325" "ACTN2_000206" "g.236924333C>T" "" "" "" "ACTN2(NM_001103.4):c.2386C>T (p.R796C), ACTN2(NM_001278344.2):c.1762C>T (p.R588C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236761033C>T" "" "VUS" "" "0000259622" "0" "50" "1" "236900510" "236900510" "subst" "0" "02325" "ACTN2_000134" "g.236900510G>C" "" "" "" "ACTN2(NM_001278344.2):c.248G>C (p.S83T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236737210G>C" "" "VUS" "" "0000259623" "0" "30" "1" "236902672" "236902672" "subst" "0.000138072" "02325" "ACTN2_000140" "g.236902672T>C" "" "" "" "ACTN2(NM_001278344.2):c.323T>C (p.M108T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739372T>C" "" "likely benign" "" "0000259624" "0" "50" "1" "236906332" "236906332" "subst" "0" "02325" "ACTN2_000147" "g.236906332C>G" "" "" "" "ACTN2(NM_001278344.2):c.620C>G (p.T207S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236743032C>G" "" "VUS" "" "0000259625" "0" "50" "1" "236907974" "236907974" "subst" "1.2187E-5" "02325" "ACTN2_000151" "g.236907974C>T" "" "" "" "ACTN2(NM_001278344.2):c.680C>T (p.T227I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744674C>T" "" "VUS" "" "0000259626" "0" "50" "1" "236898958" "236898958" "subst" "4.06161E-6" "02325" "ACTN2_000129" "g.236898958G>A" "" "" "" "ACTN2(NM_001103.4):c.721G>A (p.D241N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236735658G>A" "" "VUS" "" "0000259718" "0" "70" "1" "236902634" "236902634" "subst" "0" "02325" "ACTN2_000138" "g.236902634G>A" "" "" "" "ACTN2(NM_001103.4):c.909G>A (p.W303*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739334G>A" "" "likely pathogenic" "" "0000260512" "0" "30" "1" "236917271" "236917271" "subst" "0.000219336" "02326" "ACTN2_000186" "g.236917271G>A" "" "" "" "ACTN2(NM_001103.3):c.1864G>A (p.D622N), ACTN2(NM_001103.4):c.1864G>A (p.(Asp622Asn)), ACTN2(NM_001278344.2):c.1240G>A (p.D414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236753971G>A" "" "likely benign" "" "0000260513" "0" "10" "1" "236907966" "236907966" "subst" "0.0154601" "02326" "ACTN2_000149" "g.236907966G>A" "" "" "" "ACTN2(NM_001103.3):c.1296G>A (p.A432=), ACTN2(NM_001103.4):c.1296G>A (p.A432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744666G>A" "" "benign" "" "0000260514" "0" "30" "1" "236910942" "236910942" "subst" "7.84865E-5" "02326" "ACTN2_000159" "g.236910942C>G" "" "" "" "ACTN2(NM_001103.3):c.1407-25C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747642C>G" "" "likely benign" "" "0000260515" "0" "30" "1" "236911012" "236911012" "subst" "0.000450798" "02326" "ACTN2_000166" "g.236911012G>A" "" "" "" "ACTN2(NM_001103.3):c.1452G>A (p.Q484=), ACTN2(NM_001103.4):c.1452G>A (p.Q484=), ACTN2(NM_001278344.2):c.828G>A (p.Q276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747712G>A" "" "likely benign" "" "0000260516" "0" "50" "1" "236914854" "236914854" "subst" "4.06101E-6" "02326" "ACTN2_000182" "g.236914854G>A" "" "" "" "ACTN2(NM_001103.3):c.1741G>A (p.E581K), ACTN2(NM_001278344.2):c.1117G>A (p.E373K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751554G>A" "" "VUS" "" "0000260517" "0" "30" "1" "236917337" "236917337" "subst" "0.000170855" "02326" "ACTN2_000188" "g.236917337G>A" "" "" "" "ACTN2(NM_001103.3):c.1930G>A (p.A644T), ACTN2(NM_001278344.1):c.1306G>A (p.A436T), ACTN2(NM_001278344.2):c.1306G>A (p.A436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236754037G>A" "" "likely benign" "" "0000260518" "0" "30" "1" "236917391" "236917391" "subst" "7.76068E-5" "02326" "ACTN2_000191" "g.236917391C>T" "" "" "" "ACTN2(NM_001103.3):c.1974+10C>T, ACTN2(NM_001278344.2):c.1350+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236754091C>T" "" "likely benign" "" "0000260519" "0" "50" "1" "236918328" "236918328" "subst" "3.24878E-5" "02326" "ACTN2_000194" "g.236918328C>T" "" "" "" "ACTN2(NM_001103.3):c.1984C>T (p.R662W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755028C>T" "" "VUS" "" "0000260520" "0" "30" "1" "236918396" "236918396" "subst" "0.000105584" "02326" "ACTN2_000196" "g.236918396C>T" "" "" "" "ACTN2(NM_001103.3):c.2052C>T (p.N684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755096C>T" "" "likely benign" "" "0000260521" "0" "50" "1" "236924324" "236924324" "subst" "0" "02326" "ACTN2_000205" "g.236924324G>T" "" "" "" "ACTN2(NM_001103.3):c.2377G>T (p.E793*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236761024G>T" "" "VUS" "" "0000260522" "0" "70" "1" "236925843" "236925843" "subst" "0" "02326" "ACTN2_000216" "g.236925843C>A" "" "" "" "ACTN2(NM_001103.3):c.2609C>A (p.S870*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762543C>A" "" "likely pathogenic" "" "0000260523" "0" "30" "1" "236925883" "236925883" "subst" "0.000719132" "02326" "ACTN2_000219" "g.236925883G>A" "" "" "" "ACTN2(NM_001103.3):c.2649G>A (p.A883=), ACTN2(NM_001103.4):c.2649G>A (p.(Ala883=)), ACTN2(NM_001278344.2):c.2025G>A (p.A675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762583G>A" "" "likely benign" "" "0000260524" "0" "50" "1" "236882295" "236882295" "subst" "0" "02326" "ACTN2_000113" "g.236882295G>C" "" "" "" "ACTN2(NM_001103.3):c.343G>C (p.V115L), ACTN2(NM_001103.4):c.343G>C (p.V115L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236718995G>C" "" "VUS" "" "0000260525" "0" "30" "1" "236850011" "236850011" "subst" "0" "02326" "ACTN2_000107" "g.236850011T>A" "" "" "" "ACTN2(NM_001103.3):c.38T>A (p.V13E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236686711T>A" "" "likely benign" "" "0000260526" "0" "50" "1" "236906250" "236906250" "subst" "6.90322E-5" "02326" "ACTN2_000144" "g.236906250T>A" "" "" "" "ACTN2(NM_001103.3):c.1162T>A (p.W388R), ACTN2(NM_001103.4):c.1162T>A (p.W388R), ACTN2(NM_001278344.1):c.538T>A (p.W180R), ACTN2(NM_001278344.2):c.5..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742950T>A" "" "VUS" "" "0000260527" "0" "50" "1" "236906280" "236906280" "subst" "2.03054E-5" "02326" "ACTN2_000146" "g.236906280C>T" "" "" "" "ACTN2(NM_001103.3):c.1192C>T (p.R398C), ACTN2(NM_001278344.1):c.568C>T (p.R190C), ACTN2(NM_001278344.2):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742980C>T" "" "VUS" "" "0000260528" "0" "30" "1" "236908053" "236908053" "subst" "0.00104673" "02326" "ACTN2_000156" "g.236908053C>T" "" "" "" "ACTN2(NM_001103.3):c.1383C>T (p.I461=), ACTN2(NM_001103.4):c.1383C>T (p.I461=), ACTN2(NM_001278344.1):c.759C>T (p.I253=), ACTN2(NM_001278344.2):c.7..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744753C>T" "" "likely benign" "" "0000260529" "0" "10" "1" "236910983" "236910983" "subst" "0.00746541" "02326" "ACTN2_000161" "g.236910983G>A" "" "" "" "ACTN2(NM_001103.3):c.1423G>A (p.D475N), ACTN2(NM_001278344.2):c.799G>A (p.D267N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747683G>A" "" "benign" "" "0000260530" "0" "50" "1" "236912449" "236912449" "subst" "4.06184E-6" "02326" "ACTN2_000102" "g.236912449T>C" "" "" "" "ACTN2(NM_001103.3):c.1541T>C (p.I514T), ACTN2(NM_001278344.2):c.917T>C (p.I306T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236749149T>C" "" "VUS" "" "0000261890" "0" "10" "1" "236891071" "236891071" "subst" "0.000105602" "01943" "ACTN2_000125" "g.236891071C>T" "" "" "" "ACTN2(NM_001103.3):c.615+15C>T, ACTN2(NM_001103.4):c.615+15C>T, ACTN2(NM_001278344.2):c.-207+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236727771C>T" "" "benign" "" "0000261891" "0" "10" "1" "236849952" "236849952" "subst" "0.0262499" "01943" "ACTN2_000105" "g.236849952C>T" "" "" "" "ACTN2(NM_001103.3):c.-22C>T, ACTN2(NM_001103.4):c.-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236686652C>T" "" "benign" "" "0000261892" "0" "10" "1" "236914754" "236914754" "subst" "0.00102154" "01943" "ACTN2_000177" "g.236914754T>C" "" "" "" "ACTN2(NM_001103.3):c.1657-16T>C, ACTN2(NM_001278344.2):c.1033-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751454T>C" "" "benign" "" "0000261893" "0" "30" "1" "236914817" "236914817" "subst" "0.000134032" "01943" "ACTN2_000180" "g.236914817G>A" "" "" "" "ACTN2(NM_001103.3):c.1704G>A (p.A568=), ACTN2(NM_001278344.2):c.1080G>A (p.A360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751517G>A" "" "likely benign" "" "0000261894" "0" "50" "1" "236914867" "236914867" "subst" "0" "01943" "ACTN2_000183" "g.236914867T>C" "" "" "" "ACTN2(NM_001278344.1):c.1130T>C (p.V377A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236751567T>C" "" "VUS" "" "0000261895" "0" "50" "1" "236906268" "236906268" "subst" "3.24865E-5" "01943" "ACTN2_000145" "g.236906268C>T" "" "" "" "ACTN2(NM_001103.3):c.1180C>T (p.R394W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742968C>T" "" "VUS" "" "0000261896" "0" "30" "1" "236917271" "236917271" "subst" "0.000219336" "01943" "ACTN2_000186" "g.236917271G>A" "" "" "" "ACTN2(NM_001103.3):c.1864G>A (p.D622N), ACTN2(NM_001103.4):c.1864G>A (p.(Asp622Asn)), ACTN2(NM_001278344.2):c.1240G>A (p.D414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236753971G>A" "" "likely benign" "" "0000261897" "0" "50" "1" "236908003" "236908003" "subst" "3.25119E-5" "01943" "ACTN2_000152" "g.236908003G>A" "" "" "" "ACTN2(NM_001103.3):c.1333G>A (p.E445K), ACTN2(NM_001278344.2):c.709G>A (p.E237K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744703G>A" "" "VUS" "" "0000261898" "0" "30" "1" "236908011" "236908011" "subst" "0.00257688" "01943" "ACTN2_000153" "g.236908011C>T" "" "" "" "ACTN2(NM_001103.3):c.1341C>T (p.F447=), ACTN2(NM_001103.4):c.1341C>T (p.F447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744711C>T" "" "likely benign" "" "0000261899" "0" "30" "1" "236918313" "236918313" "subst" "0.00105991" "01943" "ACTN2_000193" "g.236918313C>G" "" "" "" "ACTN2(NM_001103.3):c.1975-6C>G, ACTN2(NM_001278344.2):c.1351-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755013C>G" "" "likely benign" "" "0000261900" "0" "10" "1" "236908041" "236908041" "subst" "0.0013344" "01943" "ACTN2_000155" "g.236908041C>T" "" "" "" "ACTN2(NM_001103.3):c.1371C>T (p.R457=), ACTN2(NM_001103.4):c.1371C>T (p.R457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744741C>T" "" "benign" "" "0000261901" "0" "30" "1" "236908084" "236908084" "subst" "0.00020037" "01943" "ACTN2_000157" "g.236908084C>T" "" "" "" "ACTN2(NM_001103.3):c.1406+8C>T, ACTN2(NM_001278344.2):c.782+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744784C>T" "" "likely benign" "" "0000261902" "0" "50" "1" "236911004" "236911004" "subst" "6.49846E-5" "01943" "ACTN2_000165" "g.236911004C>T" "" "" "" "ACTN2(NM_001103.3):c.1444C>T (p.R482W), ACTN2(NM_001103.4):c.1444C>T (p.R482W), ACTN2(NM_001278344.2):c.820C>T (p.R274W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747704C>T" "" "VUS" "" "0000261903" "0" "50" "1" "236911012" "236911012" "subst" "0.00019494" "01943" "ACTN2_000167" "g.236911012G>C" "" "" "" "ACTN2(NM_001103.3):c.1452G>C (p.Q484H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747712G>C" "" "VUS" "" "0000261904" "0" "10" "1" "236918483" "236918483" "subst" "0.00794834" "01943" "ACTN2_000199" "g.236918483G>A" "" "" "" "ACTN2(NM_001103.3):c.2139G>A (p.T713=), ACTN2(NM_001278344.2):c.1515G>A (p.T505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755183G>A" "" "benign" "" "0000261905" "0" "30" "1" "236918492" "236918492" "subst" "0.000114207" "01943" "ACTN2_000200" "g.236918492G>A" "" "" "" "ACTN2(NM_001103.3):c.2148G>A (p.T716=), ACTN2(NM_001278344.2):c.1524G>A (p.T508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236755192G>A" "" "likely benign" "" "0000261906" "0" "50" "1" "236912446" "236912446" "subst" "1.21855E-5" "01943" "ACTN2_000173" "g.236912446C>A" "" "" "" "ACTN2(NM_001103.3):c.1538C>A (p.T513N), ACTN2(NM_001103.4):c.1538C>A (p.T513N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236749146C>A" "" "VUS" "" "0000261907" "0" "10" "1" "236917339" "236917339" "subst" "0.000711469" "01943" "ACTN2_000189" "g.236917339C>A" "" "" "" "ACTN2(NM_001103.3):c.1932C>A (p.A644=), ACTN2(NM_001103.4):c.1932C>A (p.A644=), ACTN2(NM_001278344.2):c.1308C>A (p.A436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236754039C>A" "" "benign" "" "0000261908" "0" "50" "1" "236917361" "236917361" "subst" "0" "01943" "ACTN2_000190" "g.236917361T>C" "" "" "" "ACTN2(NM_001103.3):c.1954T>C (p.W652R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236754061T>C" "" "VUS" "" "0000261909" "0" "50" "1" "236920862" "236920862" "subst" "2.84241E-5" "01943" "ACTN2_000202" "g.236920862C>T" "" "" "" "ACTN2(NM_001103.3):c.2231C>T (p.T744M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236757562C>T" "" "VUS" "" "0000261910" "0" "10" "1" "236924298" "236924298" "subst" "0.00785323" "01943" "ACTN2_000203" "g.236924298T>C" "" "" "" "ACTN2(NM_001103.3):c.2368-17T>C, ACTN2(NM_001103.4):c.2368-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236760998T>C" "" "benign" "" "0000261911" "0" "50" "1" "236881278" "236881278" "subst" "0" "01943" "ACTN2_000111" "g.236881278T>C" "" "" "" "ACTN2(NM_001103.3):c.241+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236717978T>C" "" "VUS" "" "0000261912" "0" "10" "1" "236900508" "236900508" "subst" "0.00125969" "01943" "ACTN2_000133" "g.236900508G>A" "" "" "" "ACTN2(NM_001103.3):c.870G>A (p.A290=), ACTN2(NM_001278344.2):c.246G>A (p.A82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236737208G>A" "" "benign" "" "0000261913" "0" "30" "1" "236902596" "236902596" "subst" "0.000166589" "01943" "ACTN2_000136" "g.236902596G>A" "" "" "" "ACTN2(NM_001103.3):c.877-6G>A, ACTN2(NM_001278344.2):c.253-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739296G>A" "" "likely benign" "" "0000261914" "0" "10" "1" "236902594" "236902594" "subst" "0.775452" "01943" "ACTN2_000135" "g.236902594C>G" "" "" "" "ACTN2(NM_001103.3):c.877-8C>G, ACTN2(NM_001103.4):c.877-8C>G, ACTN2(NM_001278344.2):c.253-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739294C>G" "" "benign" "" "0000261915" "0" "30" "1" "236925794" "236925794" "subst" "2.84657E-5" "01943" "ACTN2_000210" "g.236925794C>T" "" "" "" "ACTN2(NM_001103.3):c.2560C>T (p.L854=), ACTN2(NM_001278344.2):c.1936C>T (p.L646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762494C>T" "" "likely benign" "" "0000261916" "0" "30" "1" "236925802" "236925802" "subst" "0.000182976" "01943" "ACTN2_000211" "g.236925802G>A" "" "" "" "ACTN2(NM_001103.3):c.2568G>A (p.P856=), ACTN2(NM_001103.4):c.2568G>A (p.P856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762502G>A" "" "likely benign" "" "0000261917" "0" "50" "1" "236925803" "236925803" "subst" "2.43924E-5" "01943" "ACTN2_000212" "g.236925803G>C" "" "" "" "ACTN2(NM_001103.3):c.2569G>C (p.D857H), ACTN2(NM_001103.4):c.2569G>C (p.D857H), ACTN2(NM_001278344.2):c.1945G>C (p.D649H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762503G>C" "" "VUS" "" "0000261918" "0" "30" "1" "236925811" "236925811" "subst" "0" "01943" "ACTN2_000213" "g.236925811C>T" "" "" "" "ACTN2(NM_001103.3):c.2577C>T (p.A859=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762511C>T" "" "likely benign" "" "0000261919" "0" "30" "1" "236925883" "236925883" "subst" "0.000719132" "01943" "ACTN2_000219" "g.236925883G>A" "" "" "" "ACTN2(NM_001103.3):c.2649G>A (p.A883=), ACTN2(NM_001103.4):c.2649G>A (p.(Ala883=)), ACTN2(NM_001278344.2):c.2025G>A (p.A675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762583G>A" "" "likely benign" "" "0000261920" "0" "50" "1" "236925893" "236925893" "subst" "0.000146331" "01943" "ACTN2_000220" "g.236925893G>A" "" "" "" "ACTN2(NM_001103.3):c.2659G>A (p.A887T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236762593G>A" "" "VUS" "" "0000261922" "0" "50" "1" "236890968" "236890968" "subst" "0" "01943" "ACTN2_000122" "g.236890968G>A" "" "" "" "ACTN2(NM_001103.3):c.537-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236727668G>A" "" "VUS" "" "0000261923" "0" "50" "1" "236906280" "236906280" "subst" "2.03054E-5" "01943" "ACTN2_000146" "g.236906280C>T" "" "" "" "ACTN2(NM_001103.3):c.1192C>T (p.R398C), ACTN2(NM_001278344.1):c.568C>T (p.R190C), ACTN2(NM_001278344.2):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236742980C>T" "" "VUS" "" "0000261924" "0" "70" "1" "236891015" "236891015" "subst" "8.12163E-6" "01943" "ACTN2_000123" "g.236891015C>T" "" "" "" "ACTN2(NM_001103.3):c.574C>T (p.R192*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236727715C>T" "" "likely pathogenic" "" "0000261925" "0" "70" "1" "236891027" "236891027" "del" "0" "01943" "ACTN2_000124" "g.236891027del" "" "" "" "ACTN2(NM_001103.3):c.586delG (p.D196Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236727727del" "" "likely pathogenic" "" "0000261926" "0" "10" "1" "236907968" "236907968" "subst" "0.000666271" "01943" "ACTN2_000150" "g.236907968C>T" "" "" "" "ACTN2(NM_001103.3):c.1298C>T (p.S433L), ACTN2(NM_001278344.1):c.674C>T (p.S225L), ACTN2(NM_001278344.2):c.674C>T (p.S225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744668C>T" "" "benign" "" "0000261927" "0" "30" "1" "236908053" "236908053" "subst" "0.00104673" "01943" "ACTN2_000156" "g.236908053C>T" "" "" "" "ACTN2(NM_001103.3):c.1383C>T (p.I461=), ACTN2(NM_001103.4):c.1383C>T (p.I461=), ACTN2(NM_001278344.1):c.759C>T (p.I253=), ACTN2(NM_001278344.2):c.7..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236744753C>T" "" "likely benign" "" "0000261928" "0" "10" "1" "236910983" "236910983" "subst" "0.00746541" "01943" "ACTN2_000161" "g.236910983G>A" "" "" "" "ACTN2(NM_001103.3):c.1423G>A (p.D475N), ACTN2(NM_001278344.2):c.799G>A (p.D267N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747683G>A" "" "benign" "" "0000261929" "0" "10" "1" "236911090" "236911090" "subst" "0.000401713" "01943" "ACTN2_000171" "g.236911090C>T" "" "" "" "ACTN2(NM_001103.3):c.1515+15C>T, ACTN2(NM_001278344.2):c.891+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236747790C>T" "" "benign" "" "0000261930" "0" "50" "1" "236902624" "236902624" "subst" "4.8742E-5" "01943" "ACTN2_000137" "g.236902624C>T" "" "" "" "ACTN2(NM_001103.3):c.899C>T (p.T300M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.236739324C>T" "" "VUS" "" "0000368359" "0" "50" "1" "236908012" "236908012" "subst" "4.06451E-6" "02438" "ACTN2_000154" "g.236908012G>C" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "-" "rs764031568" "0" "" "" "g.236744712G>C" "" "VUS" "" "0000464291" "0" "90" "1" "236902684" "236902684" "subst" "8.12137E-6" "02588" "ACTN2_000223" "g.236902684T>G" "" "{PMID:Fan 2018:30630173}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236739384T>G" "" "likely pathogenic (dominant)" "" "0000506130" "0" "10" "1" "236849952" "236849952" "subst" "0.0262499" "02327" "ACTN2_000105" "g.236849952C>T" "" "" "" "ACTN2(NM_001103.3):c.-22C>T, ACTN2(NM_001103.4):c.-22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686652C>T" "" "benign" "" "0000506131" "0" "50" "1" "236849980" "236849980" "subst" "0" "02330" "ACTN2_000224" "g.236849980C>T" "" "" "" "ACTN2(NM_001103.4):c.7C>T (p.Q3*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686680C>T" "" "VUS" "" "0000506132" "0" "10" "1" "236849991" "236849991" "subst" "0.00045553" "02330" "ACTN2_000225" "g.236849991C>A" "" "" "" "ACTN2(NM_001103.4):c.18C>A (p.P6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686691C>A" "" "benign" "" "0000506133" "0" "50" "1" "236849999" "236849999" "subst" "0" "01943" "ACTN2_000226" "g.236849999A>C" "" "" "" "ACTN2(NM_001103.3):c.26A>C (p.Q9P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686699A>C" "" "VUS" "" "0000506134" "0" "50" "1" "236849999" "236849999" "subst" "0.000725173" "01943" "ACTN2_000227" "g.236849999A>G" "" "" "" "ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686699A>G" "" "VUS" "" "0000506135" "0" "30" "1" "236849999" "236849999" "subst" "0.000725173" "02327" "ACTN2_000227" "g.236849999A>G" "" "" "" "ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686699A>G" "" "likely benign" "" "0000506136" "0" "30" "1" "236849999" "236849999" "subst" "0.000725173" "02326" "ACTN2_000227" "g.236849999A>G" "" "" "" "ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686699A>G" "" "likely benign" "" "0000506138" "0" "30" "1" "236850036" "236850036" "subst" "0" "02327" "ACTN2_000229" "g.236850036C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686736C>T" "" "likely benign" "" "0000506139" "0" "10" "1" "236850113" "236850113" "subst" "0.000145287" "02330" "ACTN2_000230" "g.236850113C>T" "" "" "" "ACTN2(NM_001278344.2):c.-696+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686813C>T" "" "benign" "" "0000506140" "0" "30" "1" "236881196" "236881196" "subst" "0.000166519" "02327" "ACTN2_000109" "g.236881196C>T" "" "" "" "ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236717896C>T" "" "likely benign" "" "0000506141" "0" "50" "1" "236881201" "236881201" "subst" "0" "02327" "ACTN2_000231" "g.236881201C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236717901C>G" "" "VUS" "" "0000506142" "0" "50" "1" "236881201" "236881201" "subst" "4.06131E-6" "02325" "ACTN2_000232" "g.236881201C>T" "" "" "" "ACTN2(NM_001103.4):c.170C>T (p.T57I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236717901C>T" "" "VUS" "" "0000506143" "0" "30" "1" "236882188" "236882188" "subst" "1.62464E-5" "02327" "ACTN2_000233" "g.236882188C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236718888C>T" "" "likely benign" "" "0000506145" "0" "30" "1" "236883409" "236883413" "del" "0" "02330" "ACTN2_000235" "g.236883409_236883413del" "" "" "" "ACTN2(NM_001103.4):c.366_370delTGTTG (p.V123Wfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236720109_236720113del" "" "likely benign" "" "0000506146" "0" "50" "1" "236883462" "236883462" "subst" "2.03153E-5" "02327" "ACTN2_000236" "g.236883462G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236720162G>A" "" "VUS" "" "0000506147" "0" "50" "1" "236883475" "236883476" "ins" "0" "02330" "ACTN2_000237" "g.236883475_236883476insT" "" "" "" "ACTN2(NM_001103.4):c.432_433insT (p.D145*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236720175_236720176insT" "" "VUS" "" "0000506148" "0" "30" "1" "236889230" "236889231" "ins" "1.62446E-5" "02325" "ACTN2_000238" "g.236889230_236889231insTTCT" "" "" "" "ACTN2(NM_001278344.2):c.-373-3_-373-2insTTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236725930_236725931insTTCT" "" "likely benign" "" "0000506149" "0" "50" "1" "236889292" "236889292" "subst" "0" "02330" "ACTN2_000239" "g.236889292A>G" "" "" "" "ACTN2(NM_001103.4):c.508A>G (p.N170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236725992A>G" "" "VUS" "" "0000506150" "0" "50" "1" "236889301" "236889301" "subst" "8.12242E-6" "02330" "ACTN2_000240" "g.236889301A>G" "" "" "" "ACTN2(NM_001103.4):c.517A>G (p.I173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236726001A>G" "" "VUS" "" "0000506151" "0" "10" "1" "236889330" "236889330" "subst" "0.000978951" "02330" "ACTN2_000241" "g.236889330C>T" "" "" "" "ACTN2(NM_001103.3):c.536+10C>T, ACTN2(NM_001103.4):c.536+10C>T, ACTN2(NM_001278344.2):c.-286+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236726030C>T" "" "benign" "" "0000506152" "0" "30" "1" "236889330" "236889330" "subst" "0.000978951" "02325" "ACTN2_000241" "g.236889330C>T" "" "" "" "ACTN2(NM_001103.3):c.536+10C>T, ACTN2(NM_001103.4):c.536+10C>T, ACTN2(NM_001278344.2):c.-286+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236726030C>T" "" "likely benign" "" "0000506153" "0" "10" "1" "236889330" "236889330" "subst" "0.000978951" "02326" "ACTN2_000241" "g.236889330C>T" "" "" "" "ACTN2(NM_001103.3):c.536+10C>T, ACTN2(NM_001103.4):c.536+10C>T, ACTN2(NM_001278344.2):c.-286+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236726030C>T" "" "benign" "" "0000506154" "0" "10" "1" "236890987" "236890987" "subst" "0.000869029" "02327" "ACTN2_000242" "g.236890987T>C" "" "" "" "ACTN2(NM_001103.3):c.546T>C (p.D182=), ACTN2(NM_001103.4):c.546T>C (p.D182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236727687T>C" "" "benign" "" "0000506156" "0" "30" "1" "236891071" "236891071" "subst" "0.000105602" "02327" "ACTN2_000125" "g.236891071C>T" "" "" "" "ACTN2(NM_001103.3):c.615+15C>T, ACTN2(NM_001103.4):c.615+15C>T, ACTN2(NM_001278344.2):c.-207+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236727771C>T" "" "likely benign" "" "0000506157" "0" "30" "1" "236894530" "236894530" "subst" "4.06352E-5" "02327" "ACTN2_000126" "g.236894530C>T" "" "" "" "ACTN2(NM_001103.3):c.616-3C>T, ACTN2(NM_001103.4):c.616-3C>T, ACTN2(NM_001278344.2):c.-206-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236731230C>T" "" "likely benign" "" "0000506158" "0" "50" "1" "236894591" "236894591" "subst" "0" "02325" "ACTN2_000244" "g.236894591T>G" "" "" "" "ACTN2(NM_001103.4):c.674T>G (p.I225S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236731291T>G" "" "VUS" "" "0000506159" "0" "50" "1" "236894607" "236894607" "subst" "0.000109693" "02325" "ACTN2_000245" "g.236894607T>A" "" "" "" "ACTN2(NM_001103.4):c.690T>A (p.D230E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236731307T>A" "" "VUS" "" "0000506160" "0" "30" "1" "236897752" "236897752" "subst" "0" "01943" "ACTN2_000246" "g.236897752A>G" "" "" "" "ACTN2(NM_001278343.1):c.717A>G (p.R239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236734452A>G" "" "likely benign" "" "0000506161" "0" "10" "1" "236898942" "236898942" "subst" "0.0152182" "02327" "ACTN2_000128" "g.236898942G>C" "" "" "" "ACTN2(NM_001103.4):c.705G>C (p.V235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236735642G>C" "" "benign" "" "0000506162" "0" "30" "1" "236898999" "236898999" "subst" "2.43669E-5" "02327" "ACTN2_000130" "g.236898999C>T" "" "" "" "ACTN2(NM_001278344.2):c.27C>T (p.H9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236735699C>T" "" "likely benign" "" "0000506163" "0" "50" "1" "236899006" "236899006" "subst" "0" "02327" "ACTN2_000247" "g.236899006G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236735706G>C" "" "VUS" "" "0000506164" "0" "10" "1" "236899904" "236899904" "del" "0" "02330" "ACTN2_000131" "g.236899904del" "" "" "" "ACTN2(NM_001278344.2):c.95delC (p.P32Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236736604del" "" "benign" "" "0000506165" "0" "10" "1" "236899904" "236899904" "del" "0" "02327" "ACTN2_000131" "g.236899904del" "" "" "" "ACTN2(NM_001278344.2):c.95delC (p.P32Lfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236736604del" "" "benign" "" "0000506166" "0" "10" "1" "236902594" "236902594" "subst" "0.775452" "02327" "ACTN2_000135" "g.236902594C>G" "" "" "" "ACTN2(NM_001103.3):c.877-8C>G, ACTN2(NM_001103.4):c.877-8C>G, ACTN2(NM_001278344.2):c.253-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236739294C>G" "" "benign" "" "0000506167" "0" "30" "1" "236902618" "236902618" "subst" "0.000479375" "02330" "ACTN2_000079" "g.236902618G>A" "" "" "" "ACTN2(NM_001103.3):c.893G>A (p.R298H), ACTN2(NM_001278344.2):c.269G>A (p.R90H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236739318G>A" "" "likely benign" "" "0000506168" "0" "30" "1" "236902618" "236902618" "subst" "0.000479375" "02326" "ACTN2_000079" "g.236902618G>A" "" "" "" "ACTN2(NM_001103.3):c.893G>A (p.R298H), ACTN2(NM_001278344.2):c.269G>A (p.R90H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236739318G>A" "" "likely benign" "" "0000506169" "0" "50" "1" "236902644" "236902644" "subst" "2.43679E-5" "02326" "ACTN2_000248" "g.236902644C>T" "" "" "" "ACTN2(NM_001103.3):c.919C>T (p.R307W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236739344C>T" "" "VUS" "" "0000506170" "0" "50" "1" "236902782" "236902782" "subst" "1.62477E-5" "02325" "ACTN2_000249" "g.236902782C>T" "" "" "" "ACTN2(NM_001103.4):c.1057C>T (p.R353W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236739482C>T" "" "VUS" "" "0000506171" "0" "50" "1" "236906209" "236906209" "subst" "0" "02327" "ACTN2_000250" "g.236906209C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236742909C>A" "" "VUS" "" "0000506172" "0" "50" "1" "236906248" "236906248" "subst" "0" "01943" "ACTN2_000251" "g.236906248A>C" "" "" "" "ACTN2(NM_001278344.1):c.536A>C (p.E179A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236742948A>C" "" "VUS" "" "0000506173" "0" "50" "1" "236906250" "236906250" "subst" "6.90322E-5" "01943" "ACTN2_000144" "g.236906250T>A" "" "" "" "ACTN2(NM_001103.3):c.1162T>A (p.W388R), ACTN2(NM_001103.4):c.1162T>A (p.W388R), ACTN2(NM_001278344.1):c.538T>A (p.W180R), ACTN2(NM_001278344.2):c.5..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236742950T>A" "" "VUS" "" "0000506175" "0" "30" "1" "236906323" "236906323" "subst" "8.93474E-5" "01943" "ACTN2_000253" "g.236906323C>T" "" "" "" "ACTN2(NM_001103.3):c.1235C>T (p.T412M), ACTN2(NM_001103.4):c.1235C>T (p.T412M), ACTN2(NM_001278344.1):c.611C>T (p.T204M), ACTN2(NM_001278344.2):c.6..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236743023C>T" "" "likely benign" "" "0000506176" "0" "30" "1" "236906323" "236906323" "subst" "8.93474E-5" "02326" "ACTN2_000253" "g.236906323C>T" "" "" "" "ACTN2(NM_001103.3):c.1235C>T (p.T412M), ACTN2(NM_001103.4):c.1235C>T (p.T412M), ACTN2(NM_001278344.1):c.611C>T (p.T204M), ACTN2(NM_001278344.2):c.6..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236743023C>T" "" "likely benign" "" "0000506177" "0" "50" "1" "236906325" "236906325" "subst" "0" "02327" "ACTN2_000254" "g.236906325C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236743025C>T" "" "VUS" "" "0000506178" "0" "10" "1" "236907968" "236907968" "subst" "0.000666271" "02330" "ACTN2_000150" "g.236907968C>T" "" "" "" "ACTN2(NM_001103.3):c.1298C>T (p.S433L), ACTN2(NM_001278344.1):c.674C>T (p.S225L), ACTN2(NM_001278344.2):c.674C>T (p.S225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744668C>T" "" "benign" "" "0000506179" "0" "30" "1" "236907968" "236907968" "subst" "0.000666271" "02325" "ACTN2_000150" "g.236907968C>T" "" "" "" "ACTN2(NM_001103.3):c.1298C>T (p.S433L), ACTN2(NM_001278344.1):c.674C>T (p.S225L), ACTN2(NM_001278344.2):c.674C>T (p.S225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744668C>T" "" "likely benign" "" "0000506180" "0" "30" "1" "236908008" "236908008" "subst" "5.28395E-5" "02325" "ACTN2_000255" "g.236908008G>A" "" "" "" "ACTN2(NM_001103.4):c.1338G>A (p.A446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744708G>A" "" "likely benign" "" "0000506181" "0" "10" "1" "236908011" "236908011" "subst" "0.00257688" "02327" "ACTN2_000153" "g.236908011C>T" "" "" "" "ACTN2(NM_001103.3):c.1341C>T (p.F447=), ACTN2(NM_001103.4):c.1341C>T (p.F447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744711C>T" "" "benign" "" "0000506182" "0" "30" "1" "236908011" "236908011" "subst" "0.00257688" "02326" "ACTN2_000153" "g.236908011C>T" "" "" "" "ACTN2(NM_001103.3):c.1341C>T (p.F447=), ACTN2(NM_001103.4):c.1341C>T (p.F447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744711C>T" "" "likely benign" "" "0000506183" "0" "30" "1" "236908041" "236908041" "subst" "0.0013344" "02327" "ACTN2_000155" "g.236908041C>T" "" "" "" "ACTN2(NM_001103.3):c.1371C>T (p.R457=), ACTN2(NM_001103.4):c.1371C>T (p.R457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744741C>T" "" "likely benign" "" "0000506184" "0" "50" "1" "236908048" "236908048" "subst" "0" "02326" "ACTN2_000256" "g.236908048C>T" "" "" "" "ACTN2(NM_001103.3):c.1378C>T (p.Q460*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744748C>T" "" "VUS" "" "0000506185" "0" "30" "1" "236908053" "236908053" "subst" "0.00104673" "02327" "ACTN2_000156" "g.236908053C>T" "" "" "" "ACTN2(NM_001103.3):c.1383C>T (p.I461=), ACTN2(NM_001103.4):c.1383C>T (p.I461=), ACTN2(NM_001278344.1):c.759C>T (p.I253=), ACTN2(NM_001278344.2):c.7..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744753C>T" "" "likely benign" "" "0000506186" "0" "30" "1" "236908092" "236908092" "del" "0" "02326" "ACTN2_000158" "g.236908092del" "" "" "" "ACTN2(NM_001103.3):c.1406+16delC, ACTN2(NM_001278344.2):c.782+16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744792del" "" "likely benign" "" "0000506187" "0" "10" "1" "236910983" "236910983" "subst" "0.00746541" "02327" "ACTN2_000161" "g.236910983G>A" "" "" "" "ACTN2(NM_001103.3):c.1423G>A (p.D475N), ACTN2(NM_001278344.2):c.799G>A (p.D267N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747683G>A" "" "benign" "" "0000506188" "0" "50" "1" "236911004" "236911004" "subst" "6.49846E-5" "02327" "ACTN2_000165" "g.236911004C>T" "" "" "" "ACTN2(NM_001103.3):c.1444C>T (p.R482W), ACTN2(NM_001103.4):c.1444C>T (p.R482W), ACTN2(NM_001278344.2):c.820C>T (p.R274W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747704C>T" "" "VUS" "" "0000506189" "0" "50" "1" "236911004" "236911004" "subst" "6.49846E-5" "02326" "ACTN2_000165" "g.236911004C>T" "" "" "" "ACTN2(NM_001103.3):c.1444C>T (p.R482W), ACTN2(NM_001103.4):c.1444C>T (p.R482W), ACTN2(NM_001278344.2):c.820C>T (p.R274W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747704C>T" "" "VUS" "" "0000506190" "0" "10" "1" "236911012" "236911012" "subst" "0.000450798" "02330" "ACTN2_000166" "g.236911012G>A" "" "" "" "ACTN2(NM_001103.3):c.1452G>A (p.Q484=), ACTN2(NM_001103.4):c.1452G>A (p.Q484=), ACTN2(NM_001278344.2):c.828G>A (p.Q276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747712G>A" "" "benign" "" "0000506191" "0" "30" "1" "236911012" "236911012" "subst" "0.000450798" "02327" "ACTN2_000166" "g.236911012G>A" "" "" "" "ACTN2(NM_001103.3):c.1452G>A (p.Q484=), ACTN2(NM_001103.4):c.1452G>A (p.Q484=), ACTN2(NM_001278344.2):c.828G>A (p.Q276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747712G>A" "" "likely benign" "" "0000506192" "0" "30" "1" "236911036" "236911036" "subst" "2.03082E-5" "02326" "ACTN2_000257" "g.236911036A>T" "" "" "" "ACTN2(NM_001103.3):c.1476A>T (p.R492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747736A>T" "" "likely benign" "" "0000506193" "0" "30" "1" "236911044" "236911044" "subst" "0.00026814" "02327" "ACTN2_000169" "g.236911044C>T" "" "" "" "ACTN2(NM_001103.3):c.1484C>T (p.T495M), ACTN2(NM_001103.4):c.1484C>T (p.(Thr495Met)), ACTN2(NM_001278344.2):c.860C>T (p.T287M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747744C>T" "" "likely benign" "" "0000506194" "0" "30" "1" "236911044" "236911044" "subst" "0.00026814" "02326" "ACTN2_000169" "g.236911044C>T" "" "" "" "ACTN2(NM_001103.3):c.1484C>T (p.T495M), ACTN2(NM_001103.4):c.1484C>T (p.(Thr495Met)), ACTN2(NM_001278344.2):c.860C>T (p.T287M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747744C>T" "" "likely benign" "" "0000506195" "0" "30" "1" "236911045" "236911045" "subst" "4.06306E-5" "02327" "ACTN2_000170" "g.236911045G>A" "" "" "" "ACTN2(NM_001278344.2):c.861G>A (p.T287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747745G>A" "" "likely benign" "" "0000506196" "0" "90" "1" "236911055" "236911059" "del" "0" "02325" "ACTN2_000258" "g.236911055_236911059del" "" "" "" "ACTN2(NM_001278344.2):c.871_875delAAGAG (p.K291Efs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747755_236747759del" "" "pathogenic" "" "0000506197" "0" "30" "1" "236912513" "236912513" "subst" "0" "01943" "ACTN2_000259" "g.236912513T>C" "" "" "" "ACTN2(NM_001278344.1):c.981T>C (p.A327=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236749213T>C" "" "likely benign" "" "0000506198" "0" "50" "1" "236912514" "236912514" "subst" "1.21837E-5" "02330" "ACTN2_000260" "g.236912514A>G" "" "" "" "ACTN2(NM_001278344.2):c.982A>G (p.M328V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236749214A>G" "" "VUS" "" "0000506199" "0" "10" "1" "236914754" "236914754" "subst" "0.00102154" "02327" "ACTN2_000177" "g.236914754T>C" "" "" "" "ACTN2(NM_001103.3):c.1657-16T>C, ACTN2(NM_001278344.2):c.1033-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751454T>C" "" "benign" "" "0000506200" "0" "50" "1" "236914812" "236914812" "subst" "0" "01943" "ACTN2_000261" "g.236914812G>A" "" "" "" "ACTN2(NM_001278344.1):c.1075G>A (p.E359K), ACTN2(NM_001278344.2):c.1075G>A (p.E359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751512G>A" "" "VUS" "" "0000506201" "0" "50" "1" "236914854" "236914854" "subst" "4.06101E-6" "02330" "ACTN2_000182" "g.236914854G>A" "" "" "" "ACTN2(NM_001103.3):c.1741G>A (p.E581K), ACTN2(NM_001278344.2):c.1117G>A (p.E373K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751554G>A" "" "VUS" "" "0000506202" "0" "50" "1" "236914858" "236914858" "subst" "0" "02330" "ACTN2_000262" "g.236914858T>C" "" "" "" "ACTN2(NM_001278344.2):c.1121T>C (p.V374A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751558T>C" "" "VUS" "" "0000506204" "0" "10" "1" "236914923" "236914923" "subst" "0.00475885" "02327" "ACTN2_000184" "g.236914923A>G" "" "" "" "ACTN2(NM_001103.2):c.1810A>G (p.(Met604Val)), ACTN2(NM_001103.3):c.1810A>G (p.M604V), ACTN2(NM_001103.4):c.1810A>G (p.M604V), ACTN2(NM_001278344.2)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751623A>G" "" "benign" "" "0000506205" "0" "30" "1" "236914924" "236914924" "subst" "4.06405E-6" "02326" "ACTN2_000264" "g.236914924T>C" "" "" "" "ACTN2(NM_001103.3):c.1811T>C (p.M604T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751624T>C" "" "likely benign" "" "0000506206" "0" "30" "1" "236914946" "236914946" "subst" "0" "02327" "ACTN2_000265" "g.236914946G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751646G>T" "" "likely benign" "" "0000506207" "0" "50" "1" "236917314" "236917314" "subst" "0" "02327" "ACTN2_000266" "g.236917314A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236754014A>G" "" "VUS" "" "0000506208" "0" "50" "1" "236917337" "236917337" "subst" "0.000170855" "01943" "ACTN2_000188" "g.236917337G>A" "" "" "" "ACTN2(NM_001103.3):c.1930G>A (p.A644T), ACTN2(NM_001278344.1):c.1306G>A (p.A436T), ACTN2(NM_001278344.2):c.1306G>A (p.A436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236754037G>A" "" "VUS" "" "0000506209" "0" "30" "1" "236917391" "236917391" "subst" "7.76068E-5" "01943" "ACTN2_000191" "g.236917391C>T" "" "" "" "ACTN2(NM_001103.3):c.1974+10C>T, ACTN2(NM_001278344.2):c.1350+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236754091C>T" "" "likely benign" "" "0000506210" "0" "30" "1" "236918307" "236918307" "subst" "9.34071E-5" "02327" "ACTN2_000192" "g.236918307C>T" "" "" "" "ACTN2(NM_001103.3):c.1975-12C>T, ACTN2(NM_001278344.2):c.1351-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755007C>T" "" "likely benign" "" "0000506211" "0" "50" "1" "236918363" "236918363" "subst" "0" "02327" "ACTN2_000267" "g.236918363C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755063C>A" "" "VUS" "" "0000506212" "0" "50" "1" "236918363" "236918363" "subst" "0" "01943" "ACTN2_000268" "g.236918363C>G" "" "" "" "ACTN2(NM_001278344.1):c.1395C>G (p.D465E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755063C>G" "" "VUS" "" "0000506213" "0" "30" "1" "236918420" "236918420" "subst" "0.000288355" "01943" "ACTN2_000197" "g.236918420C>T" "" "" "" "ACTN2(NM_001103.3):c.2076C>T (p.I692=), ACTN2(NM_001103.4):c.2076C>T (p.I692=), ACTN2(NM_001278344.1):c.1452C>T (p.I484=), ACTN2(NM_001278344.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755120C>T" "" "likely benign" "" "0000506214" "0" "30" "1" "236918420" "236918420" "subst" "0.000288355" "02326" "ACTN2_000197" "g.236918420C>T" "" "" "" "ACTN2(NM_001103.3):c.2076C>T (p.I692=), ACTN2(NM_001103.4):c.2076C>T (p.I692=), ACTN2(NM_001278344.1):c.1452C>T (p.I484=), ACTN2(NM_001278344.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755120C>T" "" "likely benign" "" "0000506215" "0" "50" "1" "236918438" "236918438" "subst" "0" "02330" "ACTN2_000269" "g.236918438C>A" "" "" "" "ACTN2(NM_001278344.2):c.1470C>A (p.D490E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755138C>A" "" "VUS" "" "0000506216" "0" "10" "1" "236918483" "236918483" "subst" "0.00794834" "02327" "ACTN2_000199" "g.236918483G>A" "" "" "" "ACTN2(NM_001103.3):c.2139G>A (p.T713=), ACTN2(NM_001278344.2):c.1515G>A (p.T505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755183G>A" "" "benign" "" "0000506218" "0" "30" "1" "236920862" "236920862" "subst" "2.84241E-5" "02327" "ACTN2_000202" "g.236920862C>T" "" "" "" "ACTN2(NM_001103.3):c.2231C>T (p.T744M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236757562C>T" "" "likely benign" "" "0000506219" "0" "10" "1" "236923097" "236923097" "subst" "0.000101515" "02330" "ACTN2_000271" "g.236923097A>G" "" "" "" "ACTN2(NM_001103.3):c.2367+8A>G, ACTN2(NM_001278344.2):c.1743+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236759797A>G" "" "benign" "" "0000506220" "0" "30" "1" "236923108" "236923108" "subst" "4.06091E-6" "02325" "ACTN2_000272" "g.236923108T>C" "" "" "" "ACTN2(NM_001103.4):c.2367+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236759808T>C" "" "likely benign" "" "0000506221" "0" "10" "1" "236924298" "236924298" "subst" "0.00785323" "02327" "ACTN2_000203" "g.236924298T>C" "" "" "" "ACTN2(NM_001103.3):c.2368-17T>C, ACTN2(NM_001103.4):c.2368-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236760998T>C" "" "benign" "" "0000506222" "0" "30" "1" "236924335" "236924335" "subst" "0" "02330" "ACTN2_000273" "g.236924335C>T" "" "" "" "ACTN2(NM_001278344.2):c.1764C>T (p.R588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761035C>T" "" "likely benign" "" "0000506223" "0" "30" "1" "236924392" "236924392" "subst" "8.93466E-5" "01943" "ACTN2_000274" "g.236924392C>T" "" "" "" "ACTN2(NM_001278344.1):c.1821C>T (p.I607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761092C>T" "" "likely benign" "" "0000506224" "0" "50" "1" "236924423" "236924423" "subst" "8.12466E-6" "02330" "ACTN2_000275" "g.236924423G>A" "" "" "" "ACTN2(NM_001278344.2):c.1852G>A (p.D618N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761123G>A" "" "VUS" "" "0000506225" "0" "30" "1" "236924431" "236924431" "subst" "0" "01943" "ACTN2_000276" "g.236924431C>T" "" "" "" "ACTN2(NM_001103.3):c.2484C>T (p.A828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761131C>T" "" "likely benign" "" "0000506226" "0" "50" "1" "236924453" "236924453" "subst" "4.0655E-6" "01943" "ACTN2_000277" "g.236924453C>T" "" "" "" "ACTN2(NM_001278344.1):c.1882C>T (p.R628W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761153C>T" "" "VUS" "" "0000506227" "0" "30" "1" "236924477" "236924478" "ins" "0" "02327" "ACTN2_000278" "g.236924477_236924478insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761177_236761178insA" "" "likely benign" "" "0000506228" "0" "30" "1" "236924478" "236924479" "ins" "0" "02327" "ACTN2_000279" "g.236924478_236924479insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761178_236761179insA" "" "likely benign" "" "0000506229" "0" "30" "1" "236924481" "236924481" "subst" "2.44437E-5" "02327" "ACTN2_000280" "g.236924481T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761181T>C" "" "likely benign" "" "0000506230" "0" "10" "1" "236924506" "236924506" "subst" "0.853496" "02327" "ACTN2_000281" "g.236924506A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761206A>G" "" "benign" "" "0000506231" "0" "30" "1" "236925741" "236925741" "subst" "0" "02326" "ACTN2_000282" "g.236925741A>G" "" "" "" "ACTN2(NM_001103.3):c.2527-20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762441A>G" "" "likely benign" "" "0000506232" "0" "30" "1" "236925748" "236925748" "subst" "0" "02327" "ACTN2_000283" "g.236925748T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762448T>C" "" "likely benign" "" "0000506233" "0" "30" "1" "236925757" "236925758" "ins" "0" "02327" "ACTN2_000284" "g.236925757_236925758insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762457_236762458insT" "" "likely benign" "" "0000506234" "0" "50" "1" "236925786" "236925786" "subst" "4.87904E-5" "02330" "ACTN2_000209" "g.236925786G>A" "" "" "" "ACTN2(NM_001278344.2):c.1928G>A (p.R643H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762486G>A" "" "VUS" "" "0000506235" "0" "50" "1" "236925803" "236925804" "ins" "0" "02327" "ACTN2_000285" "g.236925803_236925804insC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762503_236762504insC" "" "VUS" "" "0000506236" "0" "30" "1" "236925821" "236925821" "subst" "8.12724E-6" "02327" "ACTN2_000214" "g.236925821A>C" "" "" "" "ACTN2(NM_001278344.2):c.1963A>C (p.I655L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762521A>C" "" "likely benign" "" "0000506237" "0" "10" "1" "236925844" "236925844" "subst" "0.168497" "02327" "ACTN2_000217" "g.236925844G>A" "" "" "" "ACTN2(NM_001103.4):c.2610G>A (p.S870=), ACTN2(NM_001278344.2):c.1986G>A (p.S662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762544G>A" "" "benign" "" "0000506238" "0" "10" "1" "236925883" "236925883" "subst" "0.000719132" "02327" "ACTN2_000219" "g.236925883G>A" "" "" "" "ACTN2(NM_001103.3):c.2649G>A (p.A883=), ACTN2(NM_001103.4):c.2649G>A (p.(Ala883=)), ACTN2(NM_001278344.2):c.2025G>A (p.A675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762583G>A" "" "benign" "" "0000506239" "0" "50" "1" "236926787" "236926787" "subst" "0" "02327" "ACTN2_000286" "g.236926787T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236763487T>G" "" "VUS" "" "0000506240" "0" "50" "1" "236926794" "236926794" "subst" "0" "02327" "ACTN2_000287" "g.236926794G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236763494G>C" "" "VUS" "" "0000506241" "0" "30" "1" "236927207" "236927207" "subst" "0" "02327" "ACTN2_000288" "g.236927207T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236763907T>G" "" "likely benign" "" "0000597736" "1" "90" "1" "236911019" "236911019" "subst" "0" "00006" "ACTN2_000290" "g.236911019T>C" "" "{PMID:Savarese:30900782}" "" "" "" "Germline" "" "" "0" "" "" "g.236747719T>C" "" "pathogenic (dominant)" "" "0000597737" "1" "90" "1" "236911019" "236911019" "subst" "0" "00006" "ACTN2_000290" "g.236911019T>C" "" "Savarese WMS2019, O20" "" "" "" "Germline" "" "" "0" "" "" "g.236747719T>C" "" "pathogenic (dominant)" "" "0000597738" "1" "90" "1" "236911019" "236911019" "subst" "0" "00006" "ACTN2_000290" "g.236911019T>C" "" "Savarese WMS2019, O20" "" "" "" "Germline" "" "" "0" "" "" "g.236747719T>C" "" "pathogenic (dominant)" "" "0000597739" "1" "90" "1" "236883435" "236883435" "subst" "0" "00006" "ACTN2_000289" "g.236883435T>C" "" "{PMID:Savarese:30900782}" "" "" "" "Germline" "" "" "0" "" "" "g.236720135T>C" "" "pathogenic (dominant)" "" "0000597740" "11" "90" "1" "236917245" "236917245" "subst" "0" "00006" "ACTN2_000291" "g.236917245A>T" "" "Savarese WMS2019, O20" "" "" "" "Germline" "" "" "0" "" "" "g.236753945A>T" "" "pathogenic (dominant)" "" "0000605448" "0" "30" "1" "236849938" "236849938" "subst" "9.96264E-6" "02327" "ACTN2_000292" "g.236849938C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686638C>T" "" "likely benign" "" "0000605449" "0" "30" "1" "236849995" "236849995" "subst" "0.000101581" "01943" "ACTN2_000293" "g.236849995G>A" "" "" "" "ACTN2(NM_001103.3):c.22G>A (p.V8M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686695G>A" "" "likely benign" "" "0000605450" "0" "50" "1" "236850044" "236850044" "subst" "0" "02327" "ACTN2_000294" "g.236850044A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686744A>C" "" "VUS" "" "0000605451" "0" "50" "1" "236850045" "236850045" "subst" "0" "02327" "ACTN2_000295" "g.236850045G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686745G>T" "" "VUS" "" "0000605452" "0" "50" "1" "236850049" "236850049" "subst" "0" "02327" "ACTN2_000296" "g.236850049T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686749T>C" "" "VUS" "" "0000605453" "0" "50" "1" "236882211" "236882211" "subst" "0" "02327" "ACTN2_000297" "g.236882211C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236718911C>T" "" "VUS" "" "0000605454" "0" "50" "1" "236889320" "236889320" "subst" "0" "02330" "ACTN2_000298" "g.236889320G>T" "" "" "" "ACTN2(NM_001103.4):c.536G>T (p.S179I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236726020G>T" "" "VUS" "" "0000605455" "0" "50" "1" "236894607" "236894607" "subst" "0.000109693" "02330" "ACTN2_000245" "g.236894607T>A" "" "" "" "ACTN2(NM_001103.4):c.690T>A (p.D230E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236731307T>A" "" "VUS" "" "0000605456" "0" "30" "1" "236899008" "236899008" "subst" "4.0618E-6" "02327" "ACTN2_000300" "g.236899008G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236735708G>A" "" "likely benign" "" "0000605457" "0" "50" "1" "236900446" "236900446" "subst" "0" "01943" "ACTN2_000301" "g.236900446T>C" "" "" "" "ACTN2(NM_001103.3):c.808T>C (p.C270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236737146T>C" "" "VUS" "" "0000605458" "0" "30" "1" "236902618" "236902618" "subst" "0.000479375" "02327" "ACTN2_000079" "g.236902618G>A" "" "" "" "ACTN2(NM_001103.3):c.893G>A (p.R298H), ACTN2(NM_001278344.2):c.269G>A (p.R90H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236739318G>A" "" "likely benign" "" "0000605459" "0" "50" "1" "236906233" "236906233" "subst" "8.1215E-6" "02327" "ACTN2_000302" "g.236906233A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236742933A>G" "" "VUS" "" "0000605460" "0" "50" "1" "236906280" "236906280" "subst" "2.03054E-5" "02327" "ACTN2_000146" "g.236906280C>T" "" "" "" "ACTN2(NM_001103.3):c.1192C>T (p.R398C), ACTN2(NM_001278344.1):c.568C>T (p.R190C), ACTN2(NM_001278344.2):c.568C>T (p.R190C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236742980C>T" "" "VUS" "" "0000605461" "0" "30" "1" "236907942" "236907942" "subst" "0" "02327" "ACTN2_000303" "g.236907942G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744642G>A" "" "likely benign" "" "0000605462" "0" "50" "1" "236907958" "236907958" "subst" "4.06283E-6" "02325" "ACTN2_000305" "g.236907958G>A" "" "" "" "ACTN2(NM_001278344.2):c.664G>A (p.E222K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744658G>A" "" "VUS" "" "0000605463" "0" "10" "1" "236907963" "236907963" "subst" "3.25034E-5" "02330" "ACTN2_000306" "g.236907963G>A" "" "" "" "ACTN2(NM_001278344.2):c.669G>A (p.S223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744663G>A" "" "benign" "" "0000605464" "0" "50" "1" "236911004" "236911004" "subst" "6.49846E-5" "02330" "ACTN2_000165" "g.236911004C>T" "" "" "" "ACTN2(NM_001103.3):c.1444C>T (p.R482W), ACTN2(NM_001103.4):c.1444C>T (p.R482W), ACTN2(NM_001278344.2):c.820C>T (p.R274W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236747704C>T" "" "VUS" "" "0000605465" "0" "50" "1" "236912481" "236912481" "subst" "0" "02325" "ACTN2_000307" "g.236912481G>T" "" "" "" "ACTN2(NM_001278344.2):c.949G>T (p.A317S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236749181G>T" "" "VUS" "" "0000605466" "0" "50" "1" "236914899" "236914899" "dup" "0" "02327" "ACTN2_000308" "g.236914899dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236751599dup" "" "VUS" "" "0000605467" "0" "30" "1" "236917282" "236917282" "subst" "0" "02327" "ACTN2_000309" "g.236917282G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236753982G>A" "" "likely benign" "" "0000605468" "0" "50" "1" "236918379" "236918379" "subst" "8.12183E-6" "02325" "ACTN2_000310" "g.236918379A>C" "" "" "" "ACTN2(NM_001103.4):c.2035A>C (p.K679Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755079A>C" "" "VUS" "" "0000605469" "0" "30" "1" "236918491" "236918491" "subst" "0.00040778" "02325" "ACTN2_000270" "g.236918491C>T" "" "" "" "ACTN2(NM_001103.2):c.2147C>T (p.(Thr716Met)), ACTN2(NM_001103.3):c.2147C>T (p.T716M), ACTN2(NM_001278344.2):c.1523C>T (p.T508M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755191C>T" "" "likely benign" "" "0000605470" "0" "50" "1" "236924376" "236924377" "ins" "0" "02327" "ACTN2_000312" "g.236924376_236924377insG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761076_236761077insG" "" "VUS" "" "0000605471" "0" "50" "1" "236924393" "236924393" "subst" "4.06124E-6" "01804" "ACTN2_000313" "g.236924393G>A" "" "" "" "ACTN2(NM_001103.2):c.2446G>A (p.(Asp816Asn)), ACTN2(NM_001278344.2):c.1822G>A (p.D608N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761093G>A" "" "VUS" "" "0000605472" "0" "50" "1" "236924442" "236924442" "subst" "0" "02330" "ACTN2_000314" "g.236924442T>C" "" "" "" "ACTN2(NM_001278344.2):c.1871T>C (p.I624T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761142T>C" "" "VUS" "" "0000605473" "0" "90" "1" "236924466" "236924467" "ins" "0" "02327" "ACTN2_000315" "g.236924466_236924467insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761166_236761167insA" "" "pathogenic" "" "0000605474" "0" "50" "1" "236924478" "236924478" "delins" "0" "02327" "ACTN2_000316" "g.236924478delinsAGA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761178delinsAGA" "" "VUS" "" "0000605475" "0" "30" "1" "236925743" "236925743" "subst" "8.14438E-6" "02327" "ACTN2_000317" "g.236925743G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762443G>A" "" "likely benign" "" "0000605476" "0" "10" "1" "236925794" "236925794" "subst" "2.84657E-5" "02330" "ACTN2_000210" "g.236925794C>T" "" "" "" "ACTN2(NM_001103.3):c.2560C>T (p.L854=), ACTN2(NM_001278344.2):c.1936C>T (p.L646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762494C>T" "" "benign" "" "0000620569" "0" "50" "1" "236891027" "236891027" "subst" "0" "01943" "ACTN2_000299" "g.236891027G>A" "" "" "" "ACTN2(NM_001103.3):c.586G>A (p.D196N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236727727G>A" "" "VUS" "" "0000620570" "0" "50" "1" "236907956" "236907956" "subst" "4.0626E-6" "02325" "ACTN2_000304" "g.236907956A>G" "" "" "" "ACTN2(NM_001278344.2):c.662A>G (p.Y221C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236744656A>G" "" "VUS" "" "0000620571" "0" "50" "1" "236920831" "236920831" "subst" "4.06072E-6" "02330" "ACTN2_000311" "g.236920831A>G" "" "" "" "ACTN2(NM_001278344.2):c.1576A>G (p.T526A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236757531A>G" "" "VUS" "" "0000647621" "1" "50" "1" "236917271" "236917271" "subst" "0.000219336" "03575" "ACTN2_000186" "g.236917271G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs138452803}" "Germline" "" "rs138452803" "0" "" "" "g.236753971G>A" "" "VUS" "" "0000647622" "1" "70" "1" "236917326" "236917326" "subst" "8.13127E-6" "03575" "ACTN2_000318" "g.236917326G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs772909106}" "Germline" "" "rs772909106" "0" "" "" "g.236754026G>A" "" "likely pathogenic" "" "0000652968" "1" "50" "1" "236920792" "236920792" "subst" "0.000511658" "03575" "ACTN2_000319" "g.236920792C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs149433837}" "Germline" "" "rs149433837" "0" "" "" "g.236757492C>A" "" "VUS" "" "0000653096" "1" "50" "1" "236911044" "236911044" "subst" "0.00026814" "03575" "ACTN2_000169" "g.236911044C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200248944}" "Germline" "" "rs200248944" "0" "" "" "g.236747744C>T" "" "VUS" "" "0000653504" "21" "77" "1" "236910978" "236910978" "subst" "0" "03453" "ACTN2_000320" "g.236910978A>G" "" "{PMID:Good2020:31956495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236747678A>G" "" "likely pathogenic (dominant)" "" "0000653508" "0" "90" "1" "236920811" "236920811" "subst" "0" "03453" "ACTN2_000321" "g.236920811T>G" "" "{PMID:Lornage 2019:30701273}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.236757511T>G" "" "pathogenic (dominant)" "" "0000653509" "0" "90" "1" "236920825" "236920857" "del" "0" "03453" "ACTN2_000322" "g.236920825_236920857del" "" "{PMID:Lornage 2019:30701273}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.236757525_236757557del" "" "pathogenic (dominant)" "" "0000653510" "0" "90" "1" "236898977" "236898977" "subst" "0" "03453" "ACTN2_000323" "g.236898977C>T" "" "{PMID:Prondzynski:31680489}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236735677C>T" "" "pathogenic (dominant)" "" "0000653511" "0" "90" "1" "236898977" "236898977" "subst" "0" "03453" "ACTN2_000323" "g.236898977C>T" "" "{PMID:Prondzynski:31680489}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236735677C>T" "" "pathogenic (dominant)" "" "0000653512" "0" "90" "1" "236898977" "236898977" "subst" "0" "03453" "ACTN2_000323" "g.236898977C>T" "" "{PMID:Prondzynski:31680489}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236735677C>T" "" "pathogenic (dominant)" "" "0000653945" "0" "30" "1" "236849999" "236849999" "subst" "0.000725173" "02330" "ACTN2_000227" "g.236849999A>G" "" "" "" "ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236686699A>G" "" "likely benign" "" "0000653946" "0" "50" "1" "236882295" "236882295" "subst" "0" "02330" "ACTN2_000113" "g.236882295G>C" "" "" "" "ACTN2(NM_001103.3):c.343G>C (p.V115L), ACTN2(NM_001103.4):c.343G>C (p.V115L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236718995G>C" "" "VUS" "" "0000653947" "0" "10" "1" "236894571" "236894571" "subst" "0" "02330" "ACTN2_000324" "g.236894571C>T" "" "" "" "ACTN2(NM_001103.4):c.654C>T (p.I218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236731271C>T" "" "benign" "" "0000653948" "0" "50" "1" "236899883" "236899883" "subst" "0" "02330" "ACTN2_000325" "g.236899883C>T" "" "" "" "ACTN2(NM_001278344.2):c.74C>T (p.S25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236736583C>T" "" "VUS" "" "0000653949" "0" "10" "1" "236906243" "236906243" "subst" "8.12123E-5" "02330" "ACTN2_000326" "g.236906243C>T" "" "" "" "ACTN2(NM_001278344.2):c.531C>T (p.Y177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236742943C>T" "" "benign" "" "0000653950" "0" "10" "1" "236918313" "236918313" "subst" "0.00105991" "02326" "ACTN2_000193" "g.236918313C>G" "" "" "" "ACTN2(NM_001103.3):c.1975-6C>G, ACTN2(NM_001278344.2):c.1351-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755013C>G" "" "benign" "" "0000653951" "0" "10" "1" "236918420" "236918420" "subst" "0.000288355" "02330" "ACTN2_000197" "g.236918420C>T" "" "" "" "ACTN2(NM_001103.3):c.2076C>T (p.I692=), ACTN2(NM_001103.4):c.2076C>T (p.I692=), ACTN2(NM_001278344.1):c.1452C>T (p.I484=), ACTN2(NM_001278344.2):c...." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236755120C>T" "" "benign" "" "0000653952" "0" "10" "1" "236920792" "236920792" "subst" "0.000511658" "02330" "ACTN2_000319" "g.236920792C>A" "" "" "" "ACTN2(NM_001103.3):c.2161C>A (p.(Arg721Ser)), ACTN2(NM_001278344.2):c.1537C>A (p.R513S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236757492C>A" "" "benign" "" "0000653953" "0" "50" "1" "236924333" "236924333" "subst" "1.21819E-5" "02330" "ACTN2_000206" "g.236924333C>T" "" "" "" "ACTN2(NM_001103.4):c.2386C>T (p.R796C), ACTN2(NM_001278344.2):c.1762C>T (p.R588C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761033C>T" "" "VUS" "" "0000653954" "0" "50" "1" "236924383" "236924383" "subst" "4.06088E-6" "02326" "ACTN2_000327" "g.236924383A>T" "" "" "" "ACTN2(NM_001103.3):c.2436A>T (p.Q812H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236761083A>T" "" "VUS" "" "0000653955" "0" "50" "1" "236925803" "236925803" "subst" "2.43924E-5" "02326" "ACTN2_000212" "g.236925803G>C" "" "" "" "ACTN2(NM_001103.3):c.2569G>C (p.D857H), ACTN2(NM_001103.4):c.2569G>C (p.D857H), ACTN2(NM_001278344.2):c.1945G>C (p.D649H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.236762503G>C" "" "VUS" "" "0000675726" "0" "30" "1" "236849999" "236849999" "subst" "0.000725173" "02325" "ACTN2_000227" "g.236849999A>G" "" "" "" "ACTN2(NM_001103.3):c.26A>G (p.Q9R), ACTN2(NM_001103.4):c.26A>G (p.Q9R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675727" "0" "30" "1" "236914923" "236914923" "subst" "0.00475885" "01804" "ACTN2_000184" "g.236914923A>G" "" "" "" "ACTN2(NM_001103.2):c.1810A>G (p.(Met604Val)), ACTN2(NM_001103.3):c.1810A>G (p.M604V), ACTN2(NM_001103.4):c.1810A>G (p.M604V), ACTN2(NM_001278344.2)..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675728" "0" "30" "1" "236917271" "236917271" "subst" "0.000219336" "02327" "ACTN2_000186" "g.236917271G>A" "" "" "" "ACTN2(NM_001103.3):c.1864G>A (p.D622N), ACTN2(NM_001103.4):c.1864G>A (p.(Asp622Asn)), ACTN2(NM_001278344.2):c.1240G>A (p.D414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675729" "0" "30" "1" "236917336" "236917336" "subst" "0" "02326" "ACTN2_000330" "g.236917336T>C" "" "" "" "ACTN2(NM_001103.3):c.1929T>C (p.A643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675730" "0" "50" "1" "236917337" "236917337" "subst" "0.000170855" "02330" "ACTN2_000188" "g.236917337G>A" "" "" "" "ACTN2(NM_001103.3):c.1930G>A (p.A644T), ACTN2(NM_001278344.1):c.1306G>A (p.A436T), ACTN2(NM_001278344.2):c.1306G>A (p.A436T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000675731" "0" "30" "1" "236924359" "236924359" "subst" "9.74548E-5" "02327" "ACTN2_000208" "g.236924359C>T" "" "" "" "ACTN2(NM_001278344.2):c.1788C>T (p.N596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688083" "0" "10" "1" "236907913" "236907913" "subst" "2.84717E-5" "02330" "ACTN2_000148" "g.236907913A>T" "" "" "" "ACTN2(NM_001103.3):c.1256-13A>T, ACTN2(NM_001278344.2):c.632-13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688084" "0" "30" "1" "236911012" "236911012" "subst" "0.000450798" "01943" "ACTN2_000166" "g.236911012G>A" "" "" "" "ACTN2(NM_001103.3):c.1452G>A (p.Q484=), ACTN2(NM_001103.4):c.1452G>A (p.Q484=), ACTN2(NM_001278344.2):c.828G>A (p.Q276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688085" "0" "50" "1" "236912481" "236912481" "subst" "4.06161E-6" "01943" "ACTN2_000331" "g.236912481G>A" "" "" "" "ACTN2(NM_001103.3):c.1573G>A (p.A525T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688086" "0" "30" "1" "236912580" "236912580" "subst" "0" "02326" "ACTN2_000176" "g.236912580C>T" "" "" "" "ACTN2(NM_001278344.1):c.1032+16C>T, ACTN2(NM_001278344.2):c.1032+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688087" "0" "50" "1" "236920844" "236920844" "subst" "4.06062E-6" "02330" "ACTN2_000332" "g.236920844T>A" "" "" "" "ACTN2(NM_001278344.2):c.1589T>A (p.V530E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688088" "0" "10" "1" "236920866" "236920866" "subst" "0.000341089" "02330" "ACTN2_000333" "g.236920866A>G" "" "" "" "ACTN2(NM_001278344.2):c.1611A>G (p.R537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688089" "0" "50" "1" "236925884" "236925884" "subst" "4.06246E-6" "02325" "ACTN2_000334" "g.236925884T>C" "" "" "" "ACTN2(NM_001103.4):c.2650T>C (p.F884L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000700000" "0" "50" "1" "236850031" "236850031" "subst" "0" "00006" "ACTN2_000337" "g.236850031A>G" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236686731A>G" "" "VUS" "" "0000700001" "0" "50" "1" "236882226" "236882226" "subst" "0" "00006" "ACTN2_000339" "g.236882226A>G" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236718926A>G" "" "VUS" "" "0000700002" "0" "50" "1" "236894607" "236894607" "subst" "0.000109693" "00006" "ACTN2_000245" "g.236894607T>A" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236731307T>A" "" "VUS" "" "0000700003" "0" "50" "1" "236902704" "236902704" "subst" "2.03037E-5" "00006" "ACTN2_000342" "g.236902704C>T" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236739404C>T" "" "VUS" "" "0000700004" "0" "50" "1" "236914827" "236914827" "subst" "4.06154E-5" "00006" "ACTN2_000345" "g.236914827C>T" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236751527C>T" "" "VUS" "" "0000700005" "0" "50" "1" "236914884" "236914884" "subst" "4.06164E-6" "00006" "ACTN2_000346" "g.236914884A>G" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236751584A>G" "" "VUS" "" "0000700006" "0" "50" "1" "236917365" "236917365" "subst" "0" "00006" "ACTN2_000347" "g.236917365T>C" "1/807 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236754065T>C" "" "VUS" "" "0000700606" "0" "50" "1" "236881161" "236881161" "subst" "0" "00006" "ACTN2_000338" "g.236881161T>C" "1/305 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236717861T>C" "" "VUS" "" "0000700607" "0" "50" "1" "236890997" "236890997" "subst" "6.09137E-5" "00006" "ACTN2_000243" "g.236890997C>T" "1/305 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236727697C>T" "" "VUS" "" "0000700608" "0" "50" "1" "236920920" "236920920" "subst" "4.06062E-6" "00006" "ACTN2_000349" "g.236920920C>G" "1/305 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236757620C>G" "" "VUS" "" "0000700873" "0" "50" "1" "236902782" "236902782" "subst" "1.62477E-5" "00006" "ACTN2_000249" "g.236902782C>T" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.236739482C>T" "" "VUS" "" "0000700874" "0" "50" "1" "236912501" "236912501" "subst" "0" "00006" "ACTN2_000344" "g.236912501G>A" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.236749201G>A" "" "VUS" "" "0000700875" "0" "50" "1" "236924333" "236924333" "subst" "1.21819E-5" "00006" "ACTN2_000206" "g.236924333C>T" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.236761033C>T" "" "VUS" "" "0000701498" "0" "50" "1" "236882295" "236882295" "subst" "0" "00006" "ACTN2_000340" "g.236882295G>A" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.236718995G>A" "" "VUS" "" "0000701499" "0" "50" "1" "236898973" "236898973" "subst" "0" "00006" "ACTN2_000341" "g.236898973A>G" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.236735673A>G" "" "VUS" "" "0000701500" "0" "50" "1" "236908054" "236908054" "subst" "8.14624E-6" "00006" "ACTN2_000343" "g.236908054G>T" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.236744754G>T" "" "VUS" "" "0000701501" "0" "50" "1" "236914827" "236914827" "subst" "4.06154E-5" "00006" "ACTN2_000345" "g.236914827C>T" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.236751527C>T" "" "VUS" "" "0000701502" "0" "50" "1" "236918347" "236918347" "subst" "5.27923E-5" "00006" "ACTN2_000348" "g.236918347C>G" "1/590 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.236755047C>G" "" "VUS" "" "0000701759" "0" "50" "1" "236923045" "236923045" "subst" "1.21819E-5" "00006" "ACTN2_000335" "g.236923045C>T" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000701760" "0" "50" "1" "236925801" "236925801" "subst" "2.8465E-5" "00006" "ACTN2_000336" "g.236925801C>T" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000704291" "0" "50" "1" "236925807" "236925807" "subst" "8.12922E-6" "03453" "ACTN2_000350" "g.236925807A>C" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000704292" "0" "70" "1" "236882307" "236882307" "subst" "0" "03453" "ACTN2_000351" "g.236882307G>A" "" "{PMID:Isbister 2020:32931854}" "" "" "ACMG: PM2, PP1_moderate, PP3, PS4_supporting" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000704293" "0" "50" "1" "236925836" "236925836" "subst" "4.06349E-5" "03453" "ACTN2_000352" "g.236925836G>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000717300" "0" "10" "1" "236883484" "236883484" "subst" "0.000312871" "01943" "ACTN2_000120" "g.236883484G>A" "" "" "" "ACTN2(NM_001103.3):c.441G>A (p.S147=), ACTN2(NM_001103.4):c.441G>A (p.S147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717301" "0" "50" "1" "236890992" "236890992" "subst" "0" "01943" "ACTN2_000353" "g.236890992T>G" "" "" "" "ACTN2(NM_001103.3):c.551T>G (p.L184R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717302" "0" "30" "1" "236894530" "236894530" "subst" "4.06352E-5" "02326" "ACTN2_000126" "g.236894530C>T" "" "" "" "ACTN2(NM_001103.3):c.616-3C>T, ACTN2(NM_001103.4):c.616-3C>T, ACTN2(NM_001278344.2):c.-206-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717303" "0" "50" "1" "236902832" "236902832" "subst" "5.71727E-5" "02325" "ACTN2_000354" "g.236902832G>A" "" "" "" "ACTN2(NM_001103.4):c.1107G>A (p.S369=), ACTN2(NM_001278344.2):c.483G>A (p.S161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717304" "0" "50" "1" "236908006" "236908006" "subst" "0" "02330" "ACTN2_000355" "g.236908006G>T" "" "" "" "ACTN2(NM_001278344.2):c.712G>T (p.A238S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717305" "0" "10" "1" "236911072" "236911072" "subst" "0" "02330" "ACTN2_000356" "g.236911072A>G" "" "" "" "ACTN2(NM_001103.3):c.1512A>G (p.L504=), ACTN2(NM_001278344.2):c.888A>G (p.L296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717306" "0" "50" "1" "236918347" "236918347" "subst" "5.27923E-5" "01943" "ACTN2_000348" "g.236918347C>G" "" "" "" "ACTN2(NM_001103.3):c.2003C>G (p.T668R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717307" "0" "30" "1" "236918491" "236918491" "subst" "0.00040778" "02326" "ACTN2_000270" "g.236918491C>T" "" "" "" "ACTN2(NM_001103.2):c.2147C>T (p.(Thr716Met)), ACTN2(NM_001103.3):c.2147C>T (p.T716M), ACTN2(NM_001278344.2):c.1523C>T (p.T508M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717308" "0" "50" "1" "236924393" "236924393" "subst" "4.06124E-6" "02330" "ACTN2_000313" "g.236924393G>A" "" "" "" "ACTN2(NM_001103.2):c.2446G>A (p.(Asp816Asn)), ACTN2(NM_001278344.2):c.1822G>A (p.D608N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717309" "0" "30" "1" "236925812" "236925812" "subst" "4.06428E-6" "02326" "ACTN2_000357" "g.236925812C>G" "" "" "" "ACTN2(NM_001103.3):c.2578C>G (p.Q860E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000783231" "0" "55" "1" "236881685" "236891007" "del" "0" "03453" "ACTN2_000358" "g.236881685_236891007del" "" "{PMID:Singer 2021:32973354}" "" "chr1:236881685_236891007del" "" "Germline" "?" "" "0" "" "" "g.236718385_236727707del" "" "VUS" "ACMG" "0000783232" "11" "77" "1" "236894585" "236894585" "subst" "0" "03453" "ACTN2_000359" "g.236894585T>C" "" "{PMID:Park 2021:33859969}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000789641" "0" "50" "1" "236911002" "236911002" "subst" "4.06111E-6" "03779" "ACTN2_000360" "g.236911002A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1057518451" "0" "" "" "" "" "VUS" "" "0000799200" "0" "30" "1" "236881196" "236881196" "subst" "0.000166519" "01943" "ACTN2_000109" "g.236881196C>T" "" "" "" "ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799201" "0" "10" "1" "236890967" "236890967" "subst" "2.43657E-5" "02330" "ACTN2_000361" "g.236890967C>T" "" "" "" "ACTN2(NM_001278344.2):c.-285-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799202" "0" "10" "1" "236890987" "236890987" "subst" "0.000869029" "02326" "ACTN2_000242" "g.236890987T>C" "" "" "" "ACTN2(NM_001103.3):c.546T>C (p.D182=), ACTN2(NM_001103.4):c.546T>C (p.D182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000799203" "0" "30" "1" "236902757" "236902757" "subst" "4.06078E-6" "01943" "ACTN2_000362" "g.236902757C>T" "" "" "" "ACTN2(NM_001103.3):c.1032C>T (p.N344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799204" "0" "50" "1" "236902792" "236902792" "subst" "0" "02330" "ACTN2_000363" "g.236902792A>T" "" "" "" "ACTN2(NM_001278344.2):c.443A>T (p.N148I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799205" "0" "50" "1" "236910999" "236910999" "subst" "4.06095E-6" "01943" "ACTN2_000364" "g.236910999A>G" "" "" "" "ACTN2(NM_001103.3):c.1439A>G (p.N480S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799206" "0" "50" "1" "236911044" "236911044" "subst" "0.00026814" "02330" "ACTN2_000169" "g.236911044C>T" "" "" "" "ACTN2(NM_001103.3):c.1484C>T (p.T495M), ACTN2(NM_001103.4):c.1484C>T (p.(Thr495Met)), ACTN2(NM_001278344.2):c.860C>T (p.T287M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799207" "0" "50" "1" "236911057" "236911057" "subst" "0" "02330" "ACTN2_000365" "g.236911057G>C" "" "" "" "ACTN2(NM_001278344.2):c.873G>C (p.K291N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799208" "0" "30" "1" "236911072" "236911072" "subst" "0" "02326" "ACTN2_000356" "g.236911072A>G" "" "" "" "ACTN2(NM_001103.3):c.1512A>G (p.L504=), ACTN2(NM_001278344.2):c.888A>G (p.L296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799209" "0" "30" "1" "236912421" "236912421" "subst" "0" "02325" "ACTN2_000366" "g.236912421T>C" "" "" "" "ACTN2(NM_001103.4):c.1516-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000799210" "0" "50" "1" "236918328" "236918328" "subst" "3.24878E-5" "01943" "ACTN2_000194" "g.236918328C>T" "" "" "" "ACTN2(NM_001103.3):c.1984C>T (p.R662W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799211" "0" "30" "1" "236925835" "236925835" "subst" "0.000308833" "02326" "ACTN2_000215" "g.236925835C>T" "" "" "" "ACTN2(NM_001103.3):c.2601C>T (p.P867=), ACTN2(NM_001103.4):c.2601C>T (p.(Pro867=), p.P867=), ACTN2(NM_001278344.2):c.1977C>T (p.P659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000833728" "0" "10" "1" "236914741" "236914744" "del" "0" "03779" "ACTN2_000367" "g.236914741_236914744del" "" "" "" "" "" "CLASSIFICATION record" "" "rs140875513" "0" "" "" "g.236751441_236751444del" "" "benign" "" "0000833729" "0" "10" "1" "236902594" "236902594" "subst" "0.775452" "03779" "ACTN2_000135" "g.236902594C>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs2288601" "0" "" "" "" "" "benign" "" "0000842562" "0" "77" "1" "236882284" "236882284" "subst" "0" "03453" "ACTN2_000368" "g.236882284G>T" "" "{PMID:Theis 2006:17097056}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000846470" "0" "70" "1" "236925789" "236925790" "ins" "0" "03779" "ACTN2_000369" "g.236925789_236925790insT" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000848595" "0" "30" "1" "236850102" "236850103" "ins" "0" "02327" "ACTN2_000370" "g.236850102_236850103insCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848596" "0" "30" "1" "236881155" "236881155" "subst" "2.03237E-5" "02330" "ACTN2_000371" "g.236881155C>A" "" "" "" "ACTN2(NM_001278344.2):c.-695-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848597" "0" "30" "1" "236881155" "236881155" "subst" "2.03237E-5" "02327" "ACTN2_000371" "g.236881155C>A" "" "" "" "ACTN2(NM_001278344.2):c.-695-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848598" "0" "50" "1" "236898983" "236898983" "subst" "0" "01943" "ACTN2_000372" "g.236898983T>C" "" "" "" "ACTN2(NM_001103.3):c.746T>C (p.V249A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848599" "0" "30" "1" "236902672" "236902672" "subst" "0.000138072" "02330" "ACTN2_000140" "g.236902672T>C" "" "" "" "ACTN2(NM_001278344.2):c.323T>C (p.M108T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848600" "0" "50" "1" "236906250" "236906250" "subst" "6.90322E-5" "02327" "ACTN2_000144" "g.236906250T>A" "" "" "" "ACTN2(NM_001103.3):c.1162T>A (p.W388R), ACTN2(NM_001103.4):c.1162T>A (p.W388R), ACTN2(NM_001278344.1):c.538T>A (p.W180R), ACTN2(NM_001278344.2):c.5..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848601" "0" "50" "1" "236906323" "236906323" "subst" "8.93474E-5" "02330" "ACTN2_000253" "g.236906323C>T" "" "" "" "ACTN2(NM_001103.3):c.1235C>T (p.T412M), ACTN2(NM_001103.4):c.1235C>T (p.T412M), ACTN2(NM_001278344.1):c.611C>T (p.T204M), ACTN2(NM_001278344.2):c.6..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848602" "0" "50" "1" "236907962" "236907962" "subst" "0.000292502" "01943" "ACTN2_000103" "g.236907962C>T" "" "" "" "ACTN2(NM_001103.3):c.1292C>T (p.S431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848603" "0" "30" "1" "236907962" "236907962" "subst" "0.000292502" "02327" "ACTN2_000103" "g.236907962C>T" "" "" "" "ACTN2(NM_001103.3):c.1292C>T (p.S431L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848604" "0" "50" "1" "236907982" "236907982" "subst" "1.21893E-5" "01943" "ACTN2_000373" "g.236907982C>T" "" "" "" "ACTN2(NM_001103.3):c.1312C>T (p.R438W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848605" "0" "10" "1" "236908002" "236908002" "subst" "0" "02330" "ACTN2_000374" "g.236908002C>T" "" "" "" "ACTN2(NM_001278344.2):c.708C>T (p.H236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000848606" "0" "30" "1" "236910967" "236910967" "subst" "0" "02327" "ACTN2_000375" "g.236910967T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848607" "0" "30" "1" "236910986" "236910986" "subst" "0.000398044" "01943" "ACTN2_000163" "g.236910986G>A" "" "" "" "ACTN2(NM_001103.3):c.1426G>A (p.A476T), ACTN2(NM_001278344.2):c.802G>A (p.A268T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848608" "0" "50" "1" "236914812" "236914812" "subst" "0" "02327" "ACTN2_000261" "g.236914812G>A" "" "" "" "ACTN2(NM_001278344.1):c.1075G>A (p.E359K), ACTN2(NM_001278344.2):c.1075G>A (p.E359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848609" "0" "30" "1" "236914821" "236914821" "subst" "5.28005E-5" "01943" "ACTN2_000377" "g.236914821G>A" "" "" "" "ACTN2(NM_001103.3):c.1708G>A (p.G570R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848610" "0" "30" "1" "236924323" "236924323" "subst" "2.84243E-5" "02327" "ACTN2_000378" "g.236924323C>T" "" "" "" "ACTN2(NM_001278344.2):c.1752C>T (p.A584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848611" "0" "30" "1" "236925835" "236925835" "subst" "0.000308833" "02327" "ACTN2_000215" "g.236925835C>T" "" "" "" "ACTN2(NM_001103.3):c.2601C>T (p.P867=), ACTN2(NM_001103.4):c.2601C>T (p.(Pro867=), p.P867=), ACTN2(NM_001278344.2):c.1977C>T (p.P659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857372" "0" "30" "1" "236902652" "236902652" "subst" "0.000113713" "02326" "ACTN2_000139" "g.236902652C>T" "" "" "" "ACTN2(NM_001103.3):c.927C>T (p.P309=), ACTN2(NM_001103.4):c.927C>T (p.P309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857373" "0" "10" "1" "236912576" "236912576" "subst" "8.12486E-6" "02330" "ACTN2_000376" "g.236912576G>A" "" "" "" "ACTN2(NM_001278344.2):c.1032+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000872468" "0" "75" "1" "236920907" "236920907" "subst" "0" "03453" "ACTN2_000379" "g.236920907G>C" "" "{PMID:Theis 2006:17097056}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872662" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000872664" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000872665" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872666" "0" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872667" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872668" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872669" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872670" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872671" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872672" "10" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872673" "20" "70" "1" "236894600" "236894600" "subst" "0" "04219" "ACTN2_000385" "g.236894600T>C" "" "{PMID:Girolami 2014:25173926}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000872678" "3" "70" "1" "236925812" "236925812" "subst" "0" "04219" "ACTN2_000383" "g.236925812C>T" "" "{PMID:Lindholm 2021:34802252}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000872679" "0" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872680" "0" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "0" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "ACMG" "0000872681" "0" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872682" "10" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872683" "20" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872684" "10" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872685" "10" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872686" "10" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872687" "0" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872688" "0" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872689" "0" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872690" "20" "50" "1" "236898807" "236903093" "delins" "0" "04219" "ACTN2_000382" "g.236898807_236903093delins236904894_236904934" "" "{PMID:Lindholm 2021:34802252}" "" "698-128_1107+261delinsTTCTTCAGCCAGTCCCATTGGCTCTTCTTCCAGAATACATC" "" "Germline" "yes" "" "" "" "" "g.236735507_236739793delins236741594_236741634" "" "VUS" "" "0000872691" "0" "55" "1" "236914861" "236914861" "subst" "2.03054E-5" "04219" "ACTN2_000384" "g.236914861A>C" "" "{PMID:Chiu 2010:20022194}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000872692" "0" "50" "1" "236917290" "236917290" "subst" "0" "04219" "ACTN2_000381" "g.236917290A>G" "" "{PMID:Chiu 2010:20022194}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000872693" "0" "50" "1" "236917290" "236917290" "subst" "0" "04219" "ACTN2_000381" "g.236917290A>G" "" "{PMID:Chiu 2010:20022194}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000872694" "0" "50" "1" "236917290" "236917290" "subst" "0" "04219" "ACTN2_000381" "g.236917290A>G" "" "{PMID:Chiu 2010:20022194}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000872695" "10" "70" "1" "236924451" "236924451" "del" "0" "04219" "ACTN2_000380" "g.236924451del" "" "{PMID:Chen 2021:34170073}" "" "2504delT" "" "Germline" "yes" "" "0" "" "" "g.236761151del" "" "likely pathogenic (dominant)" "" "0000872696" "0" "70" "1" "236924451" "236924451" "del" "0" "04219" "ACTN2_000380" "g.236924451del" "" "{PMID:Chen 2021:34170073}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236761151del" "" "likely pathogenic (dominant)" "" "0000872697" "10" "70" "1" "236924451" "236924451" "del" "0" "04219" "ACTN2_000380" "g.236924451del" "" "{PMID:Chen 2021:34170073}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236761151del" "" "likely pathogenic (dominant)" "" "0000872862" "0" "55" "1" "236881227" "236881227" "subst" "0" "03453" "ACTN2_000387" "g.236881227T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872869" "0" "55" "1" "236881234" "236881234" "subst" "0" "03453" "ACTN2_000388" "g.236881234A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872870" "0" "55" "1" "236894603" "236894603" "subst" "4.06233E-6" "03453" "ACTN2_000389" "g.236894603T>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872871" "0" "55" "1" "236881198" "236881198" "subst" "4.06157E-6" "03453" "ACTN2_000386" "g.236881198G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872872" "0" "55" "1" "236881206" "236881206" "subst" "4.06118E-6" "03453" "ACTN2_000390" "g.236881206A>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000872873" "0" "55" "1" "236882254" "236882254" "subst" "0" "03453" "ACTN2_000391" "g.236882254A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872880" "0" "55" "1" "236883444" "236883444" "subst" "0" "03453" "ACTN2_000392" "g.236883444T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872889" "0" "55" "1" "236889280" "236889280" "subst" "0" "03453" "ACTN2_000393" "g.236889280G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872890" "0" "55" "1" "236891034" "236891034" "subst" "0" "03453" "ACTN2_000394" "g.236891034T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872891" "0" "33" "1" "236902618" "236902618" "subst" "0.000479375" "03453" "ACTN2_000079" "g.236902618G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872892" "0" "55" "1" "236902645" "236902645" "subst" "8.12282E-6" "03453" "ACTN2_000395" "g.236902645G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872897" "0" "55" "1" "236902705" "236902705" "subst" "8.12156E-6" "03453" "ACTN2_000396" "g.236902705G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872898" "0" "55" "1" "236902795" "236902795" "subst" "4.06365E-5" "03453" "ACTN2_000397" "g.236902795G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872899" "0" "55" "1" "236902831" "236902831" "subst" "0" "03453" "ACTN2_000398" "g.236902831C>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000872901" "0" "55" "1" "236902831" "236902831" "subst" "9.7992E-5" "03453" "ACTN2_000399" "g.236902831C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872902" "0" "55" "1" "236906268" "236906268" "subst" "3.24865E-5" "03453" "ACTN2_000145" "g.236906268C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872903" "0" "55" "1" "236906320" "236906320" "subst" "4.06108E-6" "03453" "ACTN2_000400" "g.236906320C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872904" "0" "55" "1" "236906323" "236906323" "subst" "8.93474E-5" "03453" "ACTN2_000253" "g.236906323C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872905" "0" "55" "1" "236906329" "236906329" "subst" "0" "03453" "ACTN2_000401" "g.236906329A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872907" "0" "55" "1" "236907968" "236907968" "subst" "0.000666271" "03453" "ACTN2_000150" "g.236907968C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872908" "0" "55" "1" "236908054" "236908054" "subst" "8.14624E-6" "03453" "ACTN2_000343" "g.236908054G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872909" "0" "55" "1" "236910986" "236910986" "subst" "0.000398044" "03453" "ACTN2_000163" "g.236910986G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872910" "0" "55" "1" "236911004" "236911004" "subst" "6.49846E-5" "03453" "ACTN2_000165" "g.236911004C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872911" "0" "55" "1" "236911028" "236911028" "subst" "0" "03453" "ACTN2_000402" "g.236911028T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872912" "0" "55" "1" "236911034" "236911034" "subst" "0" "03453" "ACTN2_000403" "g.236911034C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872913" "0" "55" "1" "236912446" "236912446" "subst" "1.21855E-5" "03453" "ACTN2_000173" "g.236912446C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872914" "0" "55" "1" "236912446" "236912446" "subst" "1.21855E-5" "03453" "ACTN2_000173" "g.236912446C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872921" "0" "55" "1" "236912460" "236912460" "subst" "5.28035E-5" "03453" "ACTN2_000404" "g.236912460C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872926" "0" "55" "1" "236914804" "236914804" "subst" "1.62464E-5" "03453" "ACTN2_000405" "g.236914804C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872927" "0" "55" "1" "236914821" "236914821" "subst" "5.28005E-5" "03453" "ACTN2_000377" "g.236914821G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872928" "0" "55" "1" "236914902" "236914902" "subst" "8.12493E-6" "03453" "ACTN2_000406" "g.236914902A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872929" "0" "55" "1" "236914935" "236914935" "subst" "1.6259E-5" "03453" "ACTN2_000407" "g.236914935C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872930" "0" "55" "1" "236914936" "236914936" "subst" "6.50417E-5" "03453" "ACTN2_000185" "g.236914936G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872931" "0" "55" "1" "236914936" "236914936" "subst" "6.50417E-5" "03453" "ACTN2_000185" "g.236914936G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872932" "0" "55" "1" "236917298" "236917298" "subst" "4.06283E-6" "03453" "ACTN2_000408" "g.236917298C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872933" "0" "55" "1" "236917326" "236917326" "subst" "8.13127E-6" "03453" "ACTN2_000318" "g.236917326G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872934" "0" "55" "1" "236917337" "236917337" "subst" "0.000170855" "03453" "ACTN2_000188" "g.236917337G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872935" "0" "55" "1" "236917337" "236917337" "subst" "0.000170855" "03453" "ACTN2_000188" "g.236917337G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872943" "0" "55" "1" "236918323" "236918323" "subst" "0" "03453" "ACTN2_000409" "g.236918323T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872944" "0" "55" "1" "236918491" "236918491" "subst" "0.00040778" "03453" "ACTN2_000270" "g.236918491C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872945" "0" "55" "1" "236918491" "236918491" "subst" "0.00040778" "03453" "ACTN2_000270" "g.236918491C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872946" "0" "55" "1" "236920871" "236920871" "subst" "0" "03453" "ACTN2_000410" "g.236920871C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872947" "0" "55" "1" "236920875" "236920875" "subst" "0" "03453" "ACTN2_000411" "g.236920875G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872959" "0" "55" "1" "236924349" "236924349" "subst" "0" "03453" "ACTN2_000412" "g.236924349T>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872960" "0" "55" "1" "236924372" "236924372" "subst" "4.87286E-5" "03453" "ACTN2_000413" "g.236924372G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872961" "0" "55" "1" "236925786" "236925786" "subst" "4.87904E-5" "03453" "ACTN2_000209" "g.236925786G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872962" "0" "55" "1" "236925807" "236925807" "subst" "8.12922E-6" "03453" "ACTN2_000350" "g.236925807A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872963" "0" "55" "1" "236925828" "236925828" "subst" "8.1277E-6" "03453" "ACTN2_000414" "g.236925828G>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872964" "0" "55" "1" "236925836" "236925836" "subst" "4.06349E-5" "03453" "ACTN2_000352" "g.236925836G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872965" "0" "55" "1" "236925836" "236925836" "subst" "4.06349E-5" "03453" "ACTN2_000352" "g.236925836G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872967" "0" "73" "1" "236849999" "236849999" "subst" "0.000725173" "03453" "ACTN2_000227" "g.236849999A>G" "" "{PMID:[Mohapatra]:[14567970]}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872968" "0" "33" "1" "236914923" "236914923" "subst" "0.00475885" "03453" "ACTN2_000184" "g.236914923A>G" "" "{PMID:Mohapatra:14567970}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872973" "0" "75" "1" "236882295" "236882295" "subst" "0" "03453" "ACTN2_000340" "g.236882295G>A" "" "{PMID:Zimmerman:20474083}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872974" "0" "75" "1" "236924467" "236924467" "del" "0" "03453" "ACTN2_000415" "g.236924467del" "" "{PMID:Zimmerman:20474083}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872975" "0" "55" "1" "236920825" "236920825" "subst" "3.24849E-5" "03453" "ACTN2_000416" "g.236920825G>A" "" "{PMID:Zimmerman:20474083}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872976" "0" "73" "1" "236923045" "236923045" "subst" "1.21819E-5" "03453" "ACTN2_000335" "g.236923045C>T" "" "{PMID:Zimmerman:20474083}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872977" "0" "33" "1" "236898999" "236898999" "subst" "2.43669E-5" "03453" "ACTN2_000130" "g.236898999C>T" "" "{PMID:Zimmerman:20474083}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872978" "0" "55" "1" "236902771" "236902771" "subst" "8.12229E-6" "03453" "ACTN2_000417" "g.236902771A>T" "" "{PMID:Gonzalez-Garay:24082139}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000872979" "0" "55" "1" "236911044" "236911044" "subst" "0.00026814" "03453" "ACTN2_000169" "g.236911044C>T" "" "{PMID:Gonzalez-Garay:24082139}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872980" "0" "33" "1" "236849991" "236849991" "subst" "9.29653E-5" "03453" "ACTN2_000106" "g.236849991C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872981" "0" "33" "1" "236849999" "236849999" "subst" "0.000725173" "03453" "ACTN2_000227" "g.236849999A>G" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872982" "0" "33" "1" "236850021" "236850021" "subst" "0" "03453" "ACTN2_000418" "g.236850021G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872983" "0" "33" "1" "236850066" "236850066" "subst" "9.70478E-6" "03453" "ACTN2_000419" "g.236850066C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872984" "0" "33" "1" "236881196" "236881196" "subst" "0.000166519" "03453" "ACTN2_000109" "g.236881196C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872985" "0" "33" "1" "236881217" "236881217" "subst" "5.28013E-5" "03453" "ACTN2_000420" "g.236881217C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872986" "0" "33" "1" "236898999" "236898999" "subst" "2.43669E-5" "03453" "ACTN2_000130" "g.236898999C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872987" "0" "55" "1" "236902618" "236902618" "subst" "0.000479375" "03453" "ACTN2_000079" "g.236902618G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872988" "0" "33" "1" "236902829" "236902829" "subst" "0" "03453" "ACTN2_000421" "g.236902829G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872989" "0" "55" "1" "236906323" "236906323" "subst" "8.93474E-5" "03453" "ACTN2_000253" "g.236906323C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872990" "0" "33" "1" "236908008" "236908008" "subst" "5.28395E-5" "03453" "ACTN2_000255" "g.236908008G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872991" "0" "33" "1" "236908053" "236908053" "subst" "0.00104673" "03453" "ACTN2_000156" "g.236908053C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872992" "0" "55" "1" "236917337" "236917337" "subst" "0.000170855" "03453" "ACTN2_000188" "g.236917337G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872993" "0" "55" "1" "236920792" "236920792" "subst" "0.000511658" "03453" "ACTN2_000319" "g.236920792C>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872994" "0" "33" "1" "236925802" "236925802" "subst" "0.000182976" "03453" "ACTN2_000211" "g.236925802G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872995" "0" "33" "1" "236925910" "236925910" "subst" "2.84828E-5" "03453" "ACTN2_000422" "g.236925910C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872996" "0" "55" "1" "236911044" "236911044" "subst" "0.00026814" "03453" "ACTN2_000169" "g.236911044C>T" "" "{PMID:Akinrinade:26084686}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000872997" "0" "55" "1" "236925803" "236925803" "subst" "2.43924E-5" "03453" "ACTN2_000212" "g.236925803G>C" "" "{PMID:Xu:26573135}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872998" "0" "55" "1" "236917325" "236917325" "subst" "1.21947E-5" "03453" "ACTN2_000187" "g.236917325C>T" "" "{PMID:Chanavat:26688388}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000872999" "0" "75" "1" "236902727" "236902727" "subst" "0" "03453" "ACTN2_000423" "g.236902727G>C" "" "{PMID:Chanavat:26688388}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873008" "0" "30" "1" "236902708" "236902708" "subst" "1.21821E-5" "04219" "ACTN2_000424" "g.236902708G>A" "" "{PMID:Chiu 2010:20022194}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "benign" "ACMG" "0000873009" "0" "10" "1" "236917337" "236917337" "subst" "0.000170855" "04219" "ACTN2_000188" "g.236917337G>A" "" "{PMID:Chiu 2010:20022194}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "benign" "ACMG" "0000873015" "0" "70" "1" "236889307" "236889307" "subst" "0" "04219" "ACTN2_000428" "g.236889307A>T" "" "{PMID:Kostareva 2016:27662471}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873022" "0" "50" "1" "236906281" "236906281" "subst" "1.21833E-5" "04219" "ACTN2_000429" "g.236906281G>A" "" "{PMID:Burns 2017:28790153}" "" "" "" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000873024" "0" "50" "1" "236908039" "236908039" "subst" "8.13663E-6" "04219" "ACTN2_000431" "g.236908039C>T" "" "{PMID:Burns 2017:28790153}" "" "" "" "Germline/De novo (untested)" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000873025" "0" "50" "1" "236914957" "236914957" "subst" "0" "04219" "ACTN2_000433" "g.236914957G>C" "" "{PMID:Cirino 2017:29030401}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873026" "0" "70" "1" "236918457" "236918457" "subst" "0" "04219" "ACTN2_000434" "g.236918457G>A" "" "{PMID:Higashi 2017:28123168}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873027" "0" "50" "1" "236925779" "236925779" "subst" "0" "04219" "ACTN2_000432" "g.236925779G>A" "" "{PMID:Lin 2017:29247119}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873029" "0" "50" "1" "236912494" "236912494" "subst" "3.24915E-5" "04219" "ACTN2_000435" "g.236912494A>G" "" "{PMID:Lu 2018:30165862}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "benign" "ACMG" "0000873031" "0" "50" "1" "236881186" "236881186" "subst" "0" "04219" "ACTN2_000430" "g.236881186T>G" "" "{PMID:Bruel 2019:31231135}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873032" "0" "50" "1" "236882230" "236882230" "subst" "2.03067E-5" "04219" "ACTN2_000436" "g.236882230G>A" "" "{PMID:Marschall 2019:31737537}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873033" "0" "50" "1" "236908049" "236908049" "subst" "0" "04219" "ACTN2_000426" "g.236908049A>G" "" "{PMID:Marschall 2019:31737537}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873034" "0" "50" "1" "236925863" "236925863" "subst" "2.03118E-5" "04219" "ACTN2_000425" "g.236925863G>T" "" "{PMID:Marschall 2019:31737537}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873035" "0" "50" "1" "236910971" "236910971" "subst" "0" "03453" "ACTN2_000437" "g.236910971C>G" "" "{PMID:Mazzarotto:33500567}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873036" "0" "55" "1" "236908013" "236908013" "subst" "4.06448E-6" "03453" "ACTN2_000438" "g.236908013A>C" "" "{PMID:Chung:33658040}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873037" "0" "55" "1" "236902765" "236902765" "subst" "0.000138073" "03453" "ACTN2_000141" "g.236902765C>T" "" "{PMID:Chung:33658040}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873038" "0" "55" "1" "236925780" "236925780" "subst" "0" "03453" "ACTN2_000439" "g.236925780A>G" "" "{PMID:Burstein:32746448}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873039" "0" "55" "1" "236925912" "236925912" "subst" "2.03389E-5" "03453" "ACTN2_000440" "g.236925912A>G" "" "{PMID:Burstein:32746448}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873040" "0" "55" "1" "236849999" "236849999" "subst" "0.000725173" "03453" "ACTN2_000227" "g.236849999A>G" "" "{PMID:Burstein:32746448}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873041" "0" "33" "1" "236907975" "236907975" "subst" "0" "03453" "ACTN2_000441" "g.236907975A>C" "" "{PMID:Burstein:32746448}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873042" "0" "55" "1" "236917314" "236917314" "subst" "0" "03453" "ACTN2_000266" "g.236917314A>G" "" "{PMID:Verdonschot:32880476}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873043" "0" "55" "1" "236911044" "236911044" "subst" "0.00026814" "03453" "ACTN2_000169" "g.236911044C>T" "" "{PMID:Verdonschot:32880476}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873044" "0" "55" "1" "236902608" "236902608" "subst" "0" "03453" "ACTN2_000442" "g.236902608G>T" "" "{PMID:van Wijngaarden:32277046}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873045" "0" "50" "1" "236902783" "236902783" "subst" "3.24995E-5" "04219" "ACTN2_000444" "g.236902783G>A" "" "{PMID:Cronin 2020:32405922}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873046" "0" "50" "1" "236912538" "236912538" "subst" "0" "04219" "ACTN2_000445" "g.236912538A>C" "" "{PMID:Lahrouchi 2020:31534214}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873047" "0" "50" "1" "236925903" "236925903" "subst" "0" "04219" "ACTN2_000446" "g.236925903G>A" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000873048" "0" "50" "1" "236883476" "236883476" "delins" "0" "04219" "ACTN2_000443" "g.236883476delinsTT" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000873049" "0" "55" "1" "236882205" "236882205" "subst" "0" "03453" "ACTN2_000447" "g.236882205C>T" "" "{PMID:Robyns:31513939}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873050" "0" "55" "1" "236924333" "236924333" "subst" "1.21819E-5" "03453" "ACTN2_000206" "g.236924333C>T" "" "{PMID:Robyns:31513939}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873064" "0" "75" "1" "236911044" "236911044" "subst" "0.00026814" "03453" "ACTN2_000169" "g.236911044C>T" "" "{PMID:Theis 2006:17097056}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873066" "0" "33" "1" "236883454" "236883454" "subst" "0" "03453" "ACTN2_000448" "g.236883454C>A" "" "{PMID:Micheu:33297573}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873067" "0" "11" "1" "236902698" "236902698" "subst" "0" "03453" "ACTN2_000449" "g.236902698G>T" "" "{PMID:Micheu:33297573}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873068" "0" "53" "1" "236925836" "236925836" "subst" "4.06349E-5" "03453" "ACTN2_000352" "g.236925836G>A" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873069" "0" "55" "1" "236902620" "236902620" "subst" "1.62492E-5" "03453" "ACTN2_000450" "g.236902620C>T" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873070" "0" "55" "1" "236918368" "236918368" "subst" "0" "03453" "ACTN2_000451" "g.236918368T>C" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873071" "0" "55" "1" "236902689" "236902689" "subst" "0" "03453" "ACTN2_000452" "g.236902689G>A" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873072" "0" "55" "1" "236911060" "236911062" "del" "0" "03453" "ACTN2_000453" "g.236911060_236911062del" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873073" "0" "55" "1" "236918335" "236918335" "subst" "0" "03453" "ACTN2_000427" "g.236918335C>G" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873290" "0" "70" "1" "236911044" "236911044" "subst" "0.00026814" "03453" "ACTN2_000169" "g.236911044C>T" "" "{PMID:Chiu:20022194}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873291" "0" "70" "1" "236882295" "236882295" "subst" "0" "03453" "ACTN2_000340" "g.236882295G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873292" "0" "50" "1" "236914827" "236914827" "subst" "4.06154E-5" "03453" "ACTN2_000345" "g.236914827C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873294" "0" "50" "1" "236906323" "236906323" "subst" "8.93474E-5" "03453" "ACTN2_000253" "g.236906323C>T" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873295" "0" "50" "1" "236918347" "236918347" "subst" "5.27923E-5" "03453" "ACTN2_000348" "g.236918347C>G" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873296" "0" "50" "1" "236902596" "236902596" "subst" "0.000166589" "03453" "ACTN2_000136" "g.236902596G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873297" "0" "50" "1" "236902596" "236902596" "subst" "0.000166589" "03453" "ACTN2_000136" "g.236902596G>A" "" "{PMID:Pugh:24503780}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873298" "0" "50" "1" "236902708" "236902708" "subst" "1.21821E-5" "03453" "ACTN2_000424" "g.236902708G>A" "" "{PMID:Burns:28790153}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873299" "0" "50" "1" "236917290" "236917290" "subst" "0" "03453" "ACTN2_000381" "g.236917290A>G" "" "{PMID:Burns:28790153}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873300" "0" "50" "1" "236914861" "236914861" "subst" "2.03054E-5" "03453" "ACTN2_000384" "g.236914861A>C" "" "{PMID:Burns:28790153}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873301" "0" "50" "1" "236894563" "236894563" "subst" "2.43722E-5" "03453" "ACTN2_000454" "g.236894563A>G" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873302" "0" "50" "1" "236902624" "236902624" "subst" "4.8742E-5" "03453" "ACTN2_000137" "g.236902624C>T" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873303" "0" "50" "1" "236924372" "236924372" "subst" "4.87286E-5" "03453" "ACTN2_000413" "g.236924372G>A" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873304" "0" "50" "1" "236912460" "236912460" "subst" "5.28035E-5" "03453" "ACTN2_000404" "g.236912460C>T" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873305" "0" "50" "1" "236912460" "236912460" "subst" "5.28035E-5" "03453" "ACTN2_000404" "g.236912460C>T" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873306" "0" "50" "1" "236925786" "236925786" "subst" "4.87904E-5" "03453" "ACTN2_000209" "g.236925786G>A" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873307" "0" "50" "1" "236925786" "236925786" "subst" "4.87904E-5" "03453" "ACTN2_000209" "g.236925786G>A" "" "{PMID:Mazzarotto:31983221}" "" "" "{PMID:Mazzarotto:31983221}" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873308" "0" "50" "1" "236910993" "236910993" "subst" "8.93452E-5" "03453" "ACTN2_000455" "g.236910993A>T" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873309" "0" "50" "1" "236907977" "236907977" "subst" "6.09375E-5" "03453" "ACTN2_000456" "g.236907977A>C" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873310" "0" "50" "1" "236894607" "236894607" "subst" "0.000109693" "03453" "ACTN2_000245" "g.236894607T>A" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873311" "0" "50" "1" "236907965" "236907965" "subst" "4.87559E-5" "03453" "ACTN2_000457" "g.236907965C>T" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873312" "0" "50" "1" "236890997" "236890997" "subst" "6.09137E-5" "03453" "ACTN2_000243" "g.236890997C>T" "" "{PMID:Lin:29247119}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873313" "0" "50" "1" "236906323" "236906323" "subst" "8.93474E-5" "03453" "ACTN2_000253" "g.236906323C>T" "" "{PMID:Lin:29247119}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873315" "0" "50" "1" "236917325" "236917325" "subst" "1.21947E-5" "03453" "ACTN2_000187" "g.236917325C>T" "" "{PMID:Lin:29247119}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873316" "0" "50" "1" "236914884" "236914884" "subst" "4.06164E-6" "03453" "ACTN2_000346" "g.236914884A>G" "" "{PMID:Shanks:28986455}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873317" "0" "50" "1" "236920862" "236920862" "subst" "2.84241E-5" "03453" "ACTN2_000202" "g.236920862C>T" "" "{PMID:Shanks:28986455}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873319" "0" "50" "1" "236908012" "236908012" "subst" "4.06451E-6" "03453" "ACTN2_000458" "g.236908012G>A" "" "{PMID:Lu 2018:30165862}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873320" "0" "50" "1" "236914854" "236914854" "subst" "4.06101E-6" "03453" "ACTN2_000182" "g.236914854G>A" "" "{PMID:Stepien-Wojno 2018:30403391}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873322" "0" "70" "1" "236891015" "236891015" "subst" "8.12163E-6" "03453" "ACTN2_000123" "g.236891015C>T" "" "{PMID:van Waning 2018:29447731}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000873323" "0" "70" "1" "236902634" "236902634" "subst" "0" "03453" "ACTN2_000138" "g.236902634G>A" "" "{PMID:van Waning 2018:29447731}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000873324" "0" "50" "1" "236925803" "236925803" "subst" "2.43924E-5" "03453" "ACTN2_000212" "g.236925803G>C" "" "{PMID:van Waning 2018:29447731}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873325" "0" "70" "1" "236891027" "236891027" "del" "0" "03453" "ACTN2_000124" "g.236891027del" "" "{PMID:van Waning 2018:29447731}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000873328" "0" "50" "1" "236917271" "236917271" "subst" "0.000219336" "03453" "ACTN2_000186" "g.236917271G>A" "" "{PMID:Marschall 2019:31737537}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873329" "0" "50" "1" "236918347" "236918347" "subst" "5.27923E-5" "03453" "ACTN2_000348" "g.236918347C>G" "" "{PMID:Richard 2019:30471092}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873331" "0" "50" "1" "236907968" "236907968" "subst" "0.000666271" "03453" "ACTN2_000150" "g.236907968C>T" "" "{PMID:Jaafar 2019:26779504}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873333" "0" "50" "1" "236906323" "236906323" "subst" "8.93474E-5" "03453" "ACTN2_000253" "g.236906323C>T" "" "{PMID:Jelin 2020:31994743}" "" "" "Variant identified in homozigosity in the patient inherited from consanguineous parents (both carrier)" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873334" "0" "50" "1" "236894607" "236894607" "subst" "0.000109693" "03453" "ACTN2_000245" "g.236894607T>A" "" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873335" "0" "50" "1" "236912532" "236912532" "subst" "1.62441E-5" "03453" "ACTN2_000459" "g.236912532A>G" "" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873336" "0" "50" "1" "236925863" "236925863" "subst" "2.03118E-5" "03453" "ACTN2_000425" "g.236925863G>T" "" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873337" "0" "50" "1" "236917325" "236917325" "subst" "1.21947E-5" "03453" "ACTN2_000187" "g.236917325C>T" "" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873338" "0" "50" "1" "236924423" "236924423" "subst" "8.12466E-6" "03453" "ACTN2_000275" "g.236924423G>A" "" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873339" "0" "50" "1" "236902720" "236902720" "subst" "4.06062E-6" "03453" "ACTN2_000460" "g.236902720C>A" "" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873340" "0" "50" "1" "236902645" "236902645" "subst" "8.12282E-6" "03453" "ACTN2_000395" "g.236902645G>A" "" "{PMID:Mazzarotto 2020:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873662" "0" "50" "1" "236902618" "236902618" "subst" "0.000479375" "03453" "ACTN2_000079" "g.236902618G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.236739318G>A" "" "benign" "ACMG" "0000873664" "0" "50" "1" "236902645" "236902645" "subst" "8.12282E-6" "03453" "ACTN2_000395" "g.236902645G>A" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873665" "0" "50" "1" "236902684" "236902684" "subst" "8.12137E-6" "03453" "ACTN2_000223" "g.236902684T>G" "" "{PMID:Mazzarotto:31983221}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000873667" "0" "50" "1" "236906247" "236906247" "subst" "0" "03453" "ACTN2_000143" "g.236906247G>C" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873669" "0" "50" "1" "236906247" "236906247" "subst" "0" "03453" "ACTN2_000143" "g.236906247G>C" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873670" "0" "50" "1" "236906250" "236906250" "subst" "6.90322E-5" "03453" "ACTN2_000144" "g.236906250T>A" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873671" "0" "50" "1" "236906250" "236906250" "subst" "6.90322E-5" "03453" "ACTN2_000144" "g.236906250T>A" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873672" "0" "50" "1" "236906280" "236906280" "subst" "2.03054E-5" "03453" "ACTN2_000146" "g.236906280C>T" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873673" "0" "50" "1" "236910983" "236910983" "subst" "0.00746541" "03453" "ACTN2_000161" "g.236910983G>A" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873674" "0" "50" "1" "236910983" "236910983" "subst" "0.00746541" "03453" "ACTN2_000161" "g.236910983G>A" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873676" "0" "50" "1" "236912449" "236912449" "subst" "4.06184E-6" "03453" "ACTN2_000102" "g.236912449T>C" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873677" "0" "50" "1" "236912514" "236912514" "subst" "1.21837E-5" "03453" "ACTN2_000260" "g.236912514A>G" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873678" "0" "50" "1" "236912554" "236912554" "subst" "8.12242E-6" "03453" "ACTN2_000174" "g.236912554A>T" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873679" "0" "50" "1" "236881197" "236881197" "subst" "4.87389E-5" "03453" "ACTN2_000110" "g.236881197G>A" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873680" "0" "50" "1" "236924314" "236924314" "subst" "0" "03453" "ACTN2_000204" "g.236924314G>A" "" "{PMID:van Lint 2019:30847666}" "" "NM_001278344:c.1744-1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000873681" "0" "50" "1" "236917325" "236917325" "subst" "1.21947E-5" "03453" "ACTN2_000187" "g.236917325C>T" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873683" "0" "50" "1" "236925786" "236925786" "subst" "4.87904E-5" "03453" "ACTN2_000209" "g.236925786G>A" "" "{PMID:van Lint 2019:30847666}" "" "c.1928G>A p.(Arg643His)" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873685" "0" "50" "1" "236918395" "236918395" "subst" "4.06091E-6" "03453" "ACTN2_000195" "g.236918395A>T" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873686" "0" "50" "1" "236925803" "236925803" "subst" "2.43924E-5" "03453" "ACTN2_000212" "g.236925803G>C" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873687" "0" "50" "1" "236889292" "236889292" "subst" "0" "03453" "ACTN2_000239" "g.236889292A>G" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873688" "0" "50" "1" "236889301" "236889301" "subst" "8.12242E-6" "03453" "ACTN2_000240" "g.236889301A>G" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873689" "0" "50" "1" "236908012" "236908012" "subst" "4.06451E-6" "03453" "ACTN2_000154" "g.236908012G>C" "" "{PMID:van Lint 2019:30847666}" "" "NM_001278344:c.718C>G" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873690" "0" "50" "1" "236900432" "236900432" "subst" "4.06273E-6" "03453" "ACTN2_000132" "g.236900432C>T" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000873691" "0" "50" "1" "236902618" "236902618" "subst" "0.000479375" "03453" "ACTN2_000079" "g.236902618G>A" "" "{PMID:van Lint 2019:30847666}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873692" "0" "11" "1" "236849999" "236849999" "subst" "0.000725173" "03453" "ACTN2_000227" "g.236849999A>G" "" "{PMID:Cuenca 2016:26899768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000873693" "0" "50" "1" "236902765" "236902765" "subst" "0.000138073" "03453" "ACTN2_000141" "g.236902765C>T" "" "{PMID:Cuenca 2016:26899768}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "benign" "ACMG" "0000883239" "0" "30" "1" "236850105" "236850105" "del" "0" "02327" "ACTN2_000461" "g.236850105del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883240" "0" "30" "1" "236881196" "236881196" "subst" "0.000166519" "02326" "ACTN2_000109" "g.236881196C>T" "" "" "" "ACTN2(NM_001103.3):c.165C>T (p.A55=), ACTN2(NM_001103.4):c.165C>T (p.A55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883241" "0" "50" "1" "236882230" "236882230" "subst" "2.03067E-5" "01804" "ACTN2_000436" "g.236882230G>A" "" "" "" "ACTN2(NM_001103.2):c.278G>A (p.(Arg93Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883242" "0" "10" "1" "236890987" "236890987" "subst" "0.000869029" "02330" "ACTN2_000242" "g.236890987T>C" "" "" "" "ACTN2(NM_001103.3):c.546T>C (p.D182=), ACTN2(NM_001103.4):c.546T>C (p.D182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883243" "0" "50" "1" "236894572" "236894572" "subst" "0" "02326" "ACTN2_000462" "g.236894572G>A" "" "" "" "ACTN2(NM_001103.3):c.655G>A (p.A219T), ACTN2(NM_001103.4):c.655G>A (p.A219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883244" "0" "50" "1" "236899012" "236899012" "subst" "0" "02326" "ACTN2_000463" "g.236899012G>A" "" "" "" "ACTN2(NM_001103.3):c.775G>A (p.A259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883245" "0" "10" "1" "236902832" "236902832" "subst" "5.71727E-5" "02330" "ACTN2_000354" "g.236902832G>A" "" "" "" "ACTN2(NM_001103.4):c.1107G>A (p.S369=), ACTN2(NM_001278344.2):c.483G>A (p.S161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883246" "0" "50" "1" "236908060" "236908060" "subst" "4.07525E-6" "01804" "ACTN2_000464" "g.236908060A>G" "" "" "" "ACTN2(NM_001103.2):c.1390A>G (p.(Ile464Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883247" "0" "50" "1" "236912455" "236912455" "subst" "0" "02330" "ACTN2_000465" "g.236912455A>G" "" "" "" "ACTN2(NM_001278344.2):c.923A>G (p.Q308R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883248" "0" "30" "1" "236912522" "236912522" "subst" "2.43675E-5" "02327" "ACTN2_000466" "g.236912522T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883249" "0" "30" "1" "236914821" "236914821" "subst" "5.28005E-5" "02326" "ACTN2_000377" "g.236914821G>A" "" "" "" "ACTN2(NM_001103.3):c.1708G>A (p.G570R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883250" "0" "30" "1" "236918492" "236918492" "subst" "0.000114207" "02327" "ACTN2_000200" "g.236918492G>A" "" "" "" "ACTN2(NM_001103.3):c.2148G>A (p.T716=), ACTN2(NM_001278344.2):c.1524G>A (p.T508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883251" "0" "50" "1" "236918503" "236918503" "subst" "0" "02330" "ACTN2_000467" "g.236918503G>A" "" "" "" "ACTN2(NM_001278344.2):c.1530+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883252" "0" "10" "1" "236918518" "236918518" "subst" "1.23304E-5" "02330" "ACTN2_000468" "g.236918518G>A" "" "" "" "ACTN2(NM_001278344.2):c.1530+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883253" "0" "30" "1" "236920857" "236920857" "subst" "4.06065E-6" "02327" "ACTN2_000469" "g.236920857C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883254" "0" "30" "1" "236924422" "236924422" "subst" "4.06204E-5" "02326" "ACTN2_000470" "g.236924422C>T" "" "" "" "ACTN2(NM_001103.3):c.2475C>T (p.T825=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883255" "0" "50" "1" "236925789" "236925789" "subst" "7.72653E-5" "02330" "ACTN2_000471" "g.236925789G>A" "" "" "" "ACTN2(NM_001103.3):c.2555G>A (p.R852Q), ACTN2(NM_001103.4):c.2555G>A (p.(Arg852Gln)), ACTN2(NM_001278344.2):c.1931G>A (p.R644Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883256" "0" "30" "1" "236925794" "236925794" "subst" "2.84657E-5" "02327" "ACTN2_000210" "g.236925794C>T" "" "" "" "ACTN2(NM_001103.3):c.2560C>T (p.L854=), ACTN2(NM_001278344.2):c.1936C>T (p.L646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883257" "0" "50" "1" "236925801" "236925801" "subst" "2.8465E-5" "02330" "ACTN2_000336" "g.236925801C>T" "" "" "" "ACTN2(NM_001278344.2):c.1943C>T (p.P648L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883258" "0" "50" "1" "236925843" "236925843" "subst" "4.06283E-6" "02330" "ACTN2_000472" "g.236925843C>T" "" "" "" "ACTN2(NM_001278344.2):c.1985C>T (p.S662L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910990" "0" "50" "1" "236894553" "236894555" "dup" "0" "02325" "ACTN2_000473" "g.236894553_236894555dup" "" "" "" "ACTN2(NM_001103.4):c.636_638dupTAA (p.N213dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910991" "0" "30" "1" "236906323" "236906323" "subst" "8.93474E-5" "02327" "ACTN2_000253" "g.236906323C>T" "" "" "" "ACTN2(NM_001103.3):c.1235C>T (p.T412M), ACTN2(NM_001103.4):c.1235C>T (p.T412M), ACTN2(NM_001278344.1):c.611C>T (p.T204M), ACTN2(NM_001278344.2):c.6..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910992" "0" "50" "1" "236914804" "236914804" "subst" "1.62464E-5" "02327" "ACTN2_000405" "g.236914804C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000910993" "0" "30" "1" "236923097" "236923097" "subst" "0.000101515" "02326" "ACTN2_000271" "g.236923097A>G" "" "" "" "ACTN2(NM_001103.3):c.2367+8A>G, ACTN2(NM_001278344.2):c.1743+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923120" "0" "10" "1" "236907957" "236907957" "subst" "2.03138E-5" "02330" "ACTN2_000474" "g.236907957C>T" "" "" "" "ACTN2(NM_001278344.2):c.663C>T (p.Y221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923121" "0" "10" "1" "236908092" "236908092" "del" "0" "02330" "ACTN2_000158" "g.236908092del" "" "" "" "ACTN2(NM_001103.3):c.1406+16delC, ACTN2(NM_001278344.2):c.782+16delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923122" "0" "10" "1" "236912510" "236912510" "subst" "3.24913E-5" "02330" "ACTN2_000475" "g.236912510C>T" "" "" "" "ACTN2(NM_001278344.2):c.978C>T (p.G326=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923123" "0" "10" "1" "236918327" "236918327" "subst" "0.000125888" "02330" "ACTN2_000476" "g.236918327C>T" "" "" "" "ACTN2(NM_001278344.2):c.1359C>T (p.A453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923124" "0" "50" "1" "236918452" "236918452" "subst" "4.06306E-5" "02330" "ACTN2_000477" "g.236918452A>T" "" "" "" "ACTN2(NM_001278344.2):c.1484A>T (p.Q495L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923125" "0" "50" "1" "236920825" "236920825" "subst" "0" "02330" "ACTN2_000478" "g.236920825G>T" "" "" "" "ACTN2(NM_001278344.2):c.1570G>T (p.A524S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923126" "0" "50" "1" "236924382" "236924382" "subst" "0" "02325" "ACTN2_000479" "g.236924382A>C" "" "" "" "ACTN2(NM_001103.4):c.2435A>C (p.Q812P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923127" "0" "50" "1" "236924393" "236924393" "subst" "4.06124E-6" "02327" "ACTN2_000313" "g.236924393G>A" "" "" "" "ACTN2(NM_001103.2):c.2446G>A (p.(Asp816Asn)), ACTN2(NM_001278344.2):c.1822G>A (p.D608N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928133" "0" "50" "1" "236900514" "236900514" "subst" "0" "02330" "ACTN2_000480" "g.236900514G>A" "" "" "" "ACTN2(NM_001278344.2):c.252G>A (p.E84=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928134" "0" "30" "1" "236907968" "236907968" "subst" "0.000666271" "02326" "ACTN2_000150" "g.236907968C>T" "" "" "" "ACTN2(NM_001103.3):c.1298C>T (p.S433L), ACTN2(NM_001278344.1):c.674C>T (p.S225L), ACTN2(NM_001278344.2):c.674C>T (p.S225L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928135" "0" "10" "1" "236908041" "236908041" "subst" "0.0013344" "02326" "ACTN2_000155" "g.236908041C>T" "" "" "" "ACTN2(NM_001103.3):c.1371C>T (p.R457=), ACTN2(NM_001103.4):c.1371C>T (p.R457=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928136" "0" "30" "1" "236914754" "236914754" "subst" "0.00102154" "02326" "ACTN2_000177" "g.236914754T>C" "" "" "" "ACTN2(NM_001103.3):c.1657-16T>C, ACTN2(NM_001278344.2):c.1033-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928137" "0" "50" "1" "236918491" "236918491" "subst" "0.00040778" "02330" "ACTN2_000270" "g.236918491C>T" "" "" "" "ACTN2(NM_001103.2):c.2147C>T (p.(Thr716Met)), ACTN2(NM_001103.3):c.2147C>T (p.T716M), ACTN2(NM_001278344.2):c.1523C>T (p.T508M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928138" "0" "30" "1" "236918491" "236918491" "subst" "0.00040778" "01804" "ACTN2_000270" "g.236918491C>T" "" "" "" "ACTN2(NM_001103.2):c.2147C>T (p.(Thr716Met)), ACTN2(NM_001103.3):c.2147C>T (p.T716M), ACTN2(NM_001278344.2):c.1523C>T (p.T508M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928139" "0" "10" "1" "236924323" "236924323" "subst" "2.84243E-5" "02330" "ACTN2_000378" "g.236924323C>T" "" "" "" "ACTN2(NM_001278344.2):c.1752C>T (p.A584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000947172" "0" "50" "1" "236912446" "236912446" "subst" "1.21855E-5" "02326" "ACTN2_000173" "g.236912446C>A" "" "" "" "ACTN2(NM_001103.3):c.1538C>A (p.T513N), ACTN2(NM_001103.4):c.1538C>A (p.T513N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947173" "0" "50" "1" "236912446" "236912446" "subst" "1.21855E-5" "02325" "ACTN2_000173" "g.236912446C>A" "" "" "" "ACTN2(NM_001103.3):c.1538C>A (p.T513N), ACTN2(NM_001103.4):c.1538C>A (p.T513N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947174" "0" "10" "1" "236924377" "236924377" "subst" "0" "02330" "ACTN2_000481" "g.236924377C>A" "" "" "" "ACTN2(NM_001278344.2):c.1806C>A (p.T602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000957766" "0" "50" "1" "236902618" "236902618" "subst" "0.000479375" "00006" "ACTN2_000079" "g.236902618G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.236739318G>A" "" "VUS" "" "0000957918" "0" "50" "1" "236902618" "236902618" "subst" "0.000479375" "00006" "ACTN2_000079" "g.236902618G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.236739318G>A" "" "VUS" "" "0000960916" "0" "50" "1" "236902621" "236902621" "subst" "3.24979E-5" "02325" "ACTN2_000482" "g.236902621G>A" "" "" "" "ACTN2(NM_001103.4):c.896G>A (p.R299H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960917" "0" "50" "1" "236906323" "236906323" "subst" "8.93474E-5" "02325" "ACTN2_000253" "g.236906323C>T" "" "" "" "ACTN2(NM_001103.3):c.1235C>T (p.T412M), ACTN2(NM_001103.4):c.1235C>T (p.T412M), ACTN2(NM_001278344.1):c.611C>T (p.T204M), ACTN2(NM_001278344.2):c.6..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960918" "0" "50" "1" "236912533" "236912533" "subst" "4.06111E-6" "02325" "ACTN2_000483" "g.236912533T>C" "" "" "" "ACTN2(NM_001103.4):c.1625T>C (p.M542T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960919" "0" "50" "1" "236914812" "236914812" "subst" "0" "02330" "ACTN2_000261" "g.236914812G>A" "" "" "" "ACTN2(NM_001278344.1):c.1075G>A (p.E359K), ACTN2(NM_001278344.2):c.1075G>A (p.E359K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960920" "0" "10" "1" "236917391" "236917391" "subst" "7.76068E-5" "02330" "ACTN2_000191" "g.236917391C>T" "" "" "" "ACTN2(NM_001103.3):c.1974+10C>T, ACTN2(NM_001278344.2):c.1350+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000960921" "0" "50" "1" "236918380" "236918380" "subst" "8.1217E-6" "02326" "ACTN2_000484" "g.236918380A>G" "" "" "" "ACTN2(NM_001103.3):c.2036A>G (p.K679R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973789" "0" "10" "1" "236889338" "236889338" "subst" "4.46828E-5" "02330" "ACTN2_000485" "g.236889338C>T" "" "" "" "ACTN2(NM_001278344.2):c.-286+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000973790" "0" "50" "1" "236908017" "236908017" "subst" "0" "02330" "ACTN2_000486" "g.236908017C>A" "" "" "" "ACTN2(NM_001278344.2):c.723C>A (p.S241R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973791" "0" "50" "1" "236912494" "236912494" "subst" "3.24915E-5" "02330" "ACTN2_000435" "g.236912494A>G" "" "" "" "ACTN2(NM_001278344.2):c.962A>G (p.N321S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973792" "0" "50" "1" "236914901" "236914902" "ins" "0" "02330" "ACTN2_000487" "g.236914901_236914902insTG" "" "" "" "ACTN2(NM_001278344.2):c.1164_1165insTG (p.N389*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973793" "0" "30" "1" "236925835" "236925835" "subst" "0.000308833" "01804" "ACTN2_000215" "g.236925835C>T" "" "" "" "ACTN2(NM_001103.3):c.2601C>T (p.P867=), ACTN2(NM_001103.4):c.2601C>T (p.(Pro867=), p.P867=), ACTN2(NM_001278344.2):c.1977C>T (p.P659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000988699" "0" "70" "1" "236924467" "236924467" "del" "0" "04219" "ACTN2_000415" "g.236924467del" "" "{DOI:Ranta-aho 2024:10.1101/2024.01.17.23298671}" "" "" "" "Germline" "yes" "" "" "" "" "g.236761167del" "" "likely pathogenic (dominant)" "" "0000988700" "0" "70" "1" "236925791" "236925803" "del" "0" "04219" "ACTN2_000488" "g.236925791_236925803del" "" "{DOI:Ranta-aho 2024:10.1101/2024.01.17.23298671}" "" "" "" "Germline" "yes" "" "0" "" "" "g.236762491_236762503del" "" "likely pathogenic (dominant)" "" "0000989672" "0" "50" "1" "236917337" "236917337" "subst" "0.000170855" "02515" "ACTN2_000188" "g.236917337G>A" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs146164600" "0" "" "" "g.236754037G>A" "" "VUS" "" "0000989673" "0" "50" "1" "236902617" "236902617" "subst" "1.21873E-5" "02515" "ACTN2_000489" "g.236902617C>T" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs1060503683" "0" "" "" "g.236739317C>T" "" "VUS" "" "0000990998" "0" "90" "1" "236882307" "236882307" "subst" "0" "02330" "ACTN2_000351" "g.236882307G>A" "" "" "" "ACTN2(NM_001103.4):c.355G>A (p.A119T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990999" "0" "50" "1" "236883450" "236883450" "subst" "4.0627E-6" "01804" "ACTN2_000490" "g.236883450C>G" "" "" "" "ACTN2(NM_001103.3):c.407C>G (p.(Thr136Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991000" "0" "10" "1" "236890964" "236890964" "subst" "3.65494E-5" "02330" "ACTN2_000491" "g.236890964C>T" "" "" "" "ACTN2(NM_001278344.2):c.-285-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991001" "0" "50" "1" "236899012" "236899012" "subst" "0" "02327" "ACTN2_000463" "g.236899012G>A" "" "" "" "ACTN2(NM_001103.3):c.775G>A (p.A259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991002" "0" "50" "1" "236920792" "236920792" "subst" "0.000511658" "01804" "ACTN2_000319" "g.236920792C>A" "" "" "" "ACTN2(NM_001103.3):c.2161C>A (p.(Arg721Ser)), ACTN2(NM_001278344.2):c.1537C>A (p.R513S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013289" "0" "10" "1" "236894527" "236894527" "subst" "4.06322E-6" "02330" "ACTN2_000492" "g.236894527A>C" "" "" "" "ACTN2(NM_001278344.2):c.-206-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013290" "0" "50" "1" "236908003" "236908003" "subst" "3.25119E-5" "02330" "ACTN2_000152" "g.236908003G>A" "" "" "" "ACTN2(NM_001103.3):c.1333G>A (p.E445K), ACTN2(NM_001278344.2):c.709G>A (p.E237K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013291" "0" "50" "1" "236910986" "236910986" "subst" "4.46784E-5" "02326" "ACTN2_000164" "g.236910986G>T" "" "" "" "ACTN2(NM_001103.3):c.1426G>T (p.A476S), ACTN2(NM_001103.4):c.1426G>T (p.A476S), ACTN2(NM_001278344.2):c.802G>T (p.A268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013292" "0" "50" "1" "236912502" "236912502" "subst" "8.12269E-6" "02330" "ACTN2_000493" "g.236912502A>T" "" "" "" "ACTN2(NM_001278344.2):c.970A>T (p.M324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013293" "0" "10" "1" "236914784" "236914784" "subst" "1.62529E-5" "02330" "ACTN2_000494" "g.236914784G>A" "" "" "" "ACTN2(NM_001278344.2):c.1047G>A (p.A349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013294" "0" "50" "1" "236917305" "236917305" "subst" "0" "02325" "ACTN2_000495" "g.236917305A>G" "" "" "" "ACTN2(NM_001103.4):c.1898A>G (p.H633R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013295" "0" "30" "1" "236925932" "236925932" "subst" "1.63721E-5" "02330" "ACTN2_000496" "g.236925932G>T" "" "" "" "ACTN2(NM_001278344.2):c.*13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024128" "0" "50" "1" "236894572" "236894572" "subst" "0" "02330" "ACTN2_000462" "g.236894572G>A" "" "" "" "ACTN2(NM_001103.3):c.655G>A (p.A219T), ACTN2(NM_001103.4):c.655G>A (p.A219T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024129" "0" "30" "1" "236908084" "236908084" "subst" "0.00020037" "02330" "ACTN2_000157" "g.236908084C>T" "" "" "" "ACTN2(NM_001103.3):c.1406+8C>T, ACTN2(NM_001278344.2):c.782+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024130" "0" "30" "1" "236918307" "236918307" "subst" "9.34071E-5" "02326" "ACTN2_000192" "g.236918307C>T" "" "" "" "ACTN2(NM_001103.3):c.1975-12C>T, ACTN2(NM_001278344.2):c.1351-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024131" "0" "50" "1" "236925789" "236925789" "subst" "7.72653E-5" "02326" "ACTN2_000471" "g.236925789G>A" "" "" "" "ACTN2(NM_001103.3):c.2555G>A (p.R852Q), ACTN2(NM_001103.4):c.2555G>A (p.(Arg852Gln)), ACTN2(NM_001278344.2):c.1931G>A (p.R644Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024132" "0" "30" "1" "236925802" "236925802" "subst" "0.000182976" "02326" "ACTN2_000211" "g.236925802G>A" "" "" "" "ACTN2(NM_001103.3):c.2568G>A (p.P856=), ACTN2(NM_001103.4):c.2568G>A (p.P856=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024133" "0" "50" "1" "236925828" "236925828" "subst" "8.1277E-6" "02327" "ACTN2_000414" "g.236925828G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031847" "0" "50" "1" "236894560" "236894560" "subst" "0" "02330" "ACTN2_000497" "g.236894560G>A" "" "" "" "ACTN2(NM_001103.4):c.643G>A (p.A215T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031848" "0" "50" "1" "236899961" "236899961" "subst" "0" "02330" "ACTN2_000498" "g.236899961G>C" "" "" "" "ACTN2(NM_001278344.2):c.152G>C (p.S51T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031849" "0" "30" "1" "236911044" "236911044" "subst" "0.00026814" "01804" "ACTN2_000169" "g.236911044C>T" "" "" "" "ACTN2(NM_001103.3):c.1484C>T (p.T495M), ACTN2(NM_001103.4):c.1484C>T (p.(Thr495Met)), ACTN2(NM_001278344.2):c.860C>T (p.T287M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031850" "0" "30" "1" "236917271" "236917271" "subst" "0.000219336" "01804" "ACTN2_000186" "g.236917271G>A" "" "" "" "ACTN2(NM_001103.3):c.1864G>A (p.D622N), ACTN2(NM_001103.4):c.1864G>A (p.(Asp622Asn)), ACTN2(NM_001278344.2):c.1240G>A (p.D414N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031851" "0" "30" "1" "236925789" "236925789" "subst" "7.72653E-5" "01804" "ACTN2_000471" "g.236925789G>A" "" "" "" "ACTN2(NM_001103.3):c.2555G>A (p.R852Q), ACTN2(NM_001103.4):c.2555G>A (p.(Arg852Gln)), ACTN2(NM_001278344.2):c.1931G>A (p.R644Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031852" "0" "10" "1" "236925883" "236925883" "subst" "0.000719132" "01804" "ACTN2_000219" "g.236925883G>A" "" "" "" "ACTN2(NM_001103.3):c.2649G>A (p.A883=), ACTN2(NM_001103.4):c.2649G>A (p.(Ala883=)), ACTN2(NM_001278344.2):c.2025G>A (p.A675=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001045106" "0" "50" "1" "236910999" "236910999" "subst" "4.06095E-6" "03779" "ACTN2_000364" "g.236910999A>G" "" "" "" "" "" "Unknown" "" "rs1197619498" "0" "" "" "" "" "VUS" "" "0001045665" "0" "30" "1" "236918426" "236918426" "subst" "3.24905E-5" "02326" "ACTN2_000499" "g.236918426G>C" "" "" "" "ACTN2(NM_001103.3):c.2082G>C (p.K694N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047029" "0" "50" "1" "236907917" "236907917" "subst" "0" "03779" "ACTN2_000500" "g.236907917C>G" "" "" "" "" "" "Unknown" "" "rs2527614116" "0" "" "" "" "" "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 ACTN2 ## Count = 733 "{{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}}" "0000036011" "00024136" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "10" "0000096950" "00024136" "70" "2671" "0" "2671" "0" "c.2671G>T" "r.(?)" "p.(Glu891*)" "21" "0000117651" "00024136" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.Trp?*" "" "0000169220" "00024136" "00" "1541" "0" "1541" "0" "c.1541T>C" "r.(?)" "p.(Ile514Thr)" "" "0000218448" "00024136" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000218486" "00024136" "50" "2058" "0" "2058" "0" "c.2058C>G" "r.(?)" "p.(Ile686Met)" "" "0000218501" "00024136" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Leu)" "" "0000245382" "00024136" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Met604Val)" "" "0000245432" "00024136" "50" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Ile863Leu)" "" "0000245532" "00024136" "30" "1519" "0" "1519" "0" "c.1519A>G" "r.(?)" "p.(Met507Val)" "" "0000245579" "00024136" "50" "1646" "0" "1646" "0" "c.1646A>T" "r.(?)" "p.(Glu549Val)" "" "0000245599" "00024136" "50" "2051" "0" "2051" "0" "c.2051A>T" "r.(?)" "p.(Asn684Ile)" "" "0000247872" "00024136" "30" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Met604Val)" "" "0000249304" "00024136" "30" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Ile863Leu)" "" "0000249741" "00024136" "50" "284" "0" "284" "0" "c.284A>C" "r.(?)" "p.(His95Pro)" "" "0000250654" "00024136" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Met604Val)" "" "0000250814" "00024136" "30" "1256" "-13" "1256" "-13" "c.1256-13A>T" "r.(=)" "p.(=)" "" "0000253006" "00024136" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Met604Val)" "" "0000254033" "00024136" "30" "1256" "-13" "1256" "-13" "c.1256-13A>T" "r.(=)" "p.(=)" "" "0000257253" "00024136" "10" "697" "10" "697" "13" "c.697+10_697+13del" "r.(=)" "p.(=)" "" "0000257254" "00024136" "10" "615" "15" "615" "15" "c.615+15C>T" "r.(=)" "p.(=)" "" "0000257255" "00024136" "10" "127" "-8" "127" "-8" "c.127-8C>G" "r.(=)" "p.(=)" "" "0000257256" "00024136" "10" "1657" "-16" "1657" "-16" "c.1657-16T>C" "r.(=)" "p.(=)" "" "0000257257" "00024136" "10" "1668" "0" "1668" "0" "c.1668T>G" "r.(?)" "p.(Thr556=)" "" "0000257258" "00024136" "10" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Leu565=)" "" "0000257259" "00024136" "10" "1704" "0" "1704" "0" "c.1704G>A" "r.(?)" "p.(Ala568=)" "" "0000257260" "00024136" "70" "1099" "0" "1102" "0" "c.1099_1102del" "r.(?)" "p.(Met367CysfsTer67)" "" "0000257261" "00024136" "10" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Asp622Asn)" "" "0000257262" "00024136" "50" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "" "0000257263" "00024136" "10" "1296" "0" "1296" "0" "c.1296G>A" "r.(?)" "p.(Ala432=)" "" "0000257264" "00024136" "10" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Phe447=)" "" "0000257265" "00024136" "10" "1975" "-12" "1975" "-12" "c.1975-12C>T" "r.(=)" "p.(=)" "" "0000257266" "00024136" "10" "1975" "-6" "1975" "-6" "c.1975-6C>G" "r.(=)" "p.(=)" "" "0000257267" "00024136" "10" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Arg457=)" "" "0000257268" "00024136" "10" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Asp709=)" "" "0000257269" "00024136" "10" "2139" "0" "2139" "0" "c.2139G>A" "r.(?)" "p.(Thr713=)" "" "0000257270" "00024136" "10" "2148" "0" "2148" "0" "c.2148G>A" "r.(?)" "p.(Thr716=)" "" "0000257271" "00024136" "10" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Ala55=)" "" "0000257272" "00024136" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Ser)" "" "0000257273" "00024136" "50" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Ala265Val)" "" "0000257274" "00024136" "50" "2368" "-1" "2368" "-1" "c.2368-1G>A" "r.spl?" "p.?" "" "0000257275" "00024136" "10" "2412" "0" "2412" "0" "c.2412C>T" "r.(?)" "p.(Asn804=)" "" "0000257276" "00024136" "10" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Pro6=)" "" "0000257277" "00024136" "10" "1932" "0" "1932" "0" "c.1932C>A" "r.(?)" "p.(Ala644=)" "" "0000257278" "00024136" "10" "2610" "0" "2610" "0" "c.2610G>A" "r.(?)" "p.(Ser870=)" "" "0000257279" "00024136" "10" "2368" "-17" "2368" "-17" "c.2368-17T>C" "r.(=)" "p.(=)" "" "0000257280" "00024136" "10" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Ala290=)" "" "0000257281" "00024136" "10" "877" "-6" "877" "-6" "c.877-6G>A" "r.(=)" "p.(=)" "" "0000257282" "00024136" "10" "877" "-8" "877" "-8" "c.877-8C>G" "r.(=)" "p.(=)" "" "0000257283" "00024136" "50" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Asp857His)" "" "0000257284" "00024136" "10" "2601" "0" "2601" "0" "c.2601C>T" "r.(?)" "p.(Pro867=)" "" "0000257285" "00024136" "10" "2649" "0" "2649" "0" "c.2649G>A" "r.(?)" "p.(Ala883=)" "" "0000257286" "00024136" "10" "2667" "0" "2667" "0" "c.2667C>T" "r.(?)" "p.(Tyr889=)" "" "0000257287" "00024136" "10" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(His254=)" "" "0000257288" "00024136" "10" "351" "0" "351" "0" "c.351=" "r.(=)" "p.(Ile117=)" "" "0000257289" "00024136" "10" "378" "0" "378" "0" "c.378=" "r.(=)" "p.(Asn126=)" "" "0000257291" "00024136" "50" "433" "0" "433" "0" "c.433G>T" "r.(?)" "p.(Asp145Tyr)" "" "0000257292" "00024136" "10" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Ser147=)" "" "0000257293" "00024136" "50" "1159" "0" "1159" "0" "c.1159G>C" "r.(?)" "p.(Glu387Gln)" "" "0000257294" "00024136" "50" "1162" "0" "1162" "0" "c.1162T>A" "r.(?)" "p.(Trp388Arg)" "" "0000257295" "00024136" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0000257296" "00024136" "10" "616" "-3" "616" "-3" "c.616-3C>T" "r.spl?" "p.?" "" "0000257297" "00024136" "10" "705" "0" "705" "0" "c.705G>C" "r.(?)" "p.(Val235=)" "" "0000257298" "00024136" "50" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Glu448Gln)" "" "0000257299" "00024136" "10" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Ile461=)" "" "0000257300" "00024136" "10" "1422" "0" "1422" "0" "c.1422C>T" "r.(?)" "p.(His474=)" "" "0000257301" "00024136" "10" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "" "0000257302" "00024136" "10" "1425" "0" "1425" "0" "c.1425C>T" "r.(?)" "p.(Asp475=)" "" "0000257303" "00024136" "10" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Ala476Thr)" "" "0000257304" "00024136" "10" "1485" "0" "1485" "0" "c.1485G>A" "r.(?)" "p.(Thr495=)" "" "0000257305" "00024136" "10" "1515" "15" "1515" "15" "c.1515+15C>T" "r.(=)" "p.(=)" "" "0000257306" "00024136" "50" "1541" "0" "1541" "0" "c.1541T>C" "r.(?)" "p.(Ile514Thr)" "" "0000258718" "00024136" "10" "2610" "0" "2610" "0" "c.2610G>A" "r.(?)" "p.(Ser870=)" "" "0000258719" "00024136" "10" "877" "-8" "877" "-8" "c.877-8C>G" "r.(=)" "p.(=)" "" "0000258720" "00024136" "10" "351" "0" "351" "0" "c.351=" "r.(=)" "p.(Ile117=)" "" "0000258721" "00024136" "10" "378" "0" "378" "0" "c.378=" "r.(=)" "p.(Asn126=)" "" "0000258918" "00024136" "10" "-22" "0" "-22" "0" "c.-22C>T" "r.(?)" "p.(=)" "" "0000258919" "00024136" "10" "784" "-518" "784" "-518" "c.784-518del" "r.(=)" "p.(=)" "" "0000259299" "00024136" "30" "615" "15" "615" "15" "c.615+15C>T" "r.(=)" "p.(=)" "" "0000259300" "00024136" "30" "1657" "-16" "1657" "-16" "c.1657-16T>C" "r.(=)" "p.(=)" "" "0000259301" "00024136" "30" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Leu565=)" "" "0000259302" "00024136" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Phe447=)" "" "0000259303" "00024136" "30" "1975" "-12" "1975" "-12" "c.1975-12C>T" "r.(=)" "p.(=)" "" "0000259304" "00024136" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Arg457=)" "" "0000259305" "00024136" "30" "1932" "0" "1932" "0" "c.1932C>A" "r.(?)" "p.(Ala644=)" "" "0000259306" "00024136" "30" "2601" "0" "2601" "0" "c.2601C>T" "r.(?)" "p.(Pro867=)" "" "0000259307" "00024136" "30" "2649" "0" "2649" "0" "c.2649G>A" "r.(?)" "p.(Ala883=)" "" "0000259308" "00024136" "30" "616" "-3" "616" "-3" "c.616-3C>T" "r.spl?" "p.?" "" "0000259309" "00024136" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Ile461=)" "" "0000259310" "00024136" "30" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Ala476Thr)" "" "0000259388" "00024136" "30" "1656" "12" "1656" "12" "c.1656+12G>T" "r.(=)" "p.(=)" "" "0000259389" "00024136" "30" "1656" "16" "1656" "16" "c.1656+16C>T" "r.(=)" "p.(=)" "" "0000259390" "00024136" "30" "1740" "0" "1740" "0" "c.1740C>T" "r.(?)" "p.(Asn580=)" "" "0000259391" "00024136" "30" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "" "0000259392" "00024136" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Gln484=)" "" "0000259393" "00024136" "30" "2622" "0" "2622" "0" "c.2622T>C" "r.(?)" "p.(Ser874=)" "" "0000259394" "00024136" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ile692=)" "" "0000259395" "00024136" "30" "2568" "0" "2568" "0" "c.2568G>A" "r.(?)" "p.(Pro856=)" "" "0000259396" "00024136" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Gly118=)" "" "0000259397" "00024136" "30" "1406" "16" "1406" "16" "c.1406+16del" "r.(=)" "p.(=)" "" "0000259398" "00024136" "30" "1458" "0" "1458" "0" "c.1458T>C" "r.(?)" "p.(Ile486=)" "" "0000259399" "00024136" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Pro309=)" "" "0000259594" "00024136" "50" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Asp857His)" "" "0000259595" "00024136" "50" "1162" "0" "1162" "0" "c.1162T>A" "r.(?)" "p.(Trp388Arg)" "" "0000259596" "00024136" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0000259613" "00024136" "50" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Thr347Met)" "" "0000259614" "00024136" "50" "1426" "0" "1426" "0" "c.1426G>T" "r.(?)" "p.(Ala476Ser)" "" "0000259615" "00024136" "50" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "" "0000259616" "00024136" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "" "0000259617" "00024136" "50" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Arg721His)" "" "0000259618" "00024136" "50" "2387" "0" "2387" "0" "c.2387G>A" "r.(?)" "p.(Arg796His)" "" "0000259619" "00024136" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Arg851His)" "" "0000259620" "00024136" "50" "2677" "0" "2677" "0" "c.2677G>A" "r.(?)" "p.(Asp893Asn)" "" "0000259621" "00024136" "50" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Arg796Cys)" "" "0000259622" "00024136" "50" "872" "0" "872" "0" "c.872G>C" "r.(?)" "p.(Ser291Thr)" "" "0000259623" "00024136" "30" "947" "0" "947" "0" "c.947T>C" "r.(?)" "p.(Met316Thr)" "" "0000259624" "00024136" "50" "1244" "0" "1244" "0" "c.1244C>G" "r.(?)" "p.(Thr415Ser)" "" "0000259625" "00024136" "50" "1304" "0" "1304" "0" "c.1304C>T" "r.(?)" "p.(Thr435Ile)" "" "0000259626" "00024136" "50" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Asp241Asn)" "" "0000259718" "00024136" "70" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Trp303Ter)" "" "0000260512" "00024136" "30" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Asp622Asn)" "" "0000260513" "00024136" "10" "1296" "0" "1296" "0" "c.1296G>A" "r.(?)" "p.(Ala432=)" "" "0000260514" "00024136" "30" "1407" "-25" "1407" "-25" "c.1407-25C>G" "r.(=)" "p.(=)" "" "0000260515" "00024136" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Gln484=)" "" "0000260516" "00024136" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Glu581Lys)" "" "0000260517" "00024136" "30" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "" "0000260518" "00024136" "30" "1974" "10" "1974" "10" "c.1974+10C>T" "r.(=)" "p.(=)" "" "0000260519" "00024136" "50" "1984" "0" "1984" "0" "c.1984C>T" "r.(?)" "p.(Arg662Trp)" "" "0000260520" "00024136" "30" "2052" "0" "2052" "0" "c.2052C>T" "r.(?)" "p.(Asn684=)" "" "0000260521" "00024136" "50" "2377" "0" "2377" "0" "c.2377G>T" "r.(?)" "p.(Glu793Ter)" "" "0000260522" "00024136" "70" "2609" "0" "2609" "0" "c.2609C>A" "r.(?)" "p.(Ser870Ter)" "" "0000260523" "00024136" "30" "2649" "0" "2649" "0" "c.2649G>A" "r.(?)" "p.(Ala883=)" "" "0000260524" "00024136" "50" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Val115Leu)" "" "0000260525" "00024136" "30" "38" "0" "38" "0" "c.38T>A" "r.(?)" "p.(Val13Glu)" "" "0000260526" "00024136" "50" "1162" "0" "1162" "0" "c.1162T>A" "r.(?)" "p.(Trp388Arg)" "" "0000260527" "00024136" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0000260528" "00024136" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Ile461=)" "" "0000260529" "00024136" "10" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "" "0000260530" "00024136" "50" "1541" "0" "1541" "0" "c.1541T>C" "r.(?)" "p.(Ile514Thr)" "" "0000261890" "00024136" "10" "615" "15" "615" "15" "c.615+15C>T" "r.(=)" "p.(=)" "" "0000261891" "00024136" "10" "-22" "0" "-22" "0" "c.-22C>T" "r.(?)" "p.(=)" "" "0000261892" "00024136" "10" "1657" "-16" "1657" "-16" "c.1657-16T>C" "r.(=)" "p.(=)" "" "0000261893" "00024136" "30" "1704" "0" "1704" "0" "c.1704G>A" "r.(?)" "p.(Ala568=)" "" "0000261894" "00024136" "50" "1754" "0" "1754" "0" "c.1754T>C" "r.(?)" "p.(Val585Ala)" "" "0000261895" "00024136" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Trp)" "" "0000261896" "00024136" "30" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Asp622Asn)" "" "0000261897" "00024136" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Glu445Lys)" "" "0000261898" "00024136" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Phe447=)" "" "0000261899" "00024136" "30" "1975" "-6" "1975" "-6" "c.1975-6C>G" "r.(=)" "p.(=)" "" "0000261900" "00024136" "10" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Arg457=)" "" "0000261901" "00024136" "30" "1406" "8" "1406" "8" "c.1406+8C>T" "r.(=)" "p.(=)" "" "0000261902" "00024136" "50" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "" "0000261903" "00024136" "50" "1452" "0" "1452" "0" "c.1452G>C" "r.(?)" "p.(Gln484His)" "" "0000261904" "00024136" "10" "2139" "0" "2139" "0" "c.2139G>A" "r.(?)" "p.(Thr713=)" "" "0000261905" "00024136" "30" "2148" "0" "2148" "0" "c.2148G>A" "r.(?)" "p.(Thr716=)" "" "0000261906" "00024136" "50" "1538" "0" "1538" "0" "c.1538C>A" "r.(?)" "p.(Thr513Asn)" "" "0000261907" "00024136" "10" "1932" "0" "1932" "0" "c.1932C>A" "r.(?)" "p.(Ala644=)" "" "0000261908" "00024136" "50" "1954" "0" "1954" "0" "c.1954T>C" "r.(?)" "p.(Trp652Arg)" "" "0000261909" "00024136" "50" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Met)" "" "0000261910" "00024136" "10" "2368" "-17" "2368" "-17" "c.2368-17T>C" "r.(=)" "p.(=)" "" "0000261911" "00024136" "50" "241" "6" "241" "6" "c.241+6T>C" "r.(=)" "p.(=)" "" "0000261912" "00024136" "10" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Ala290=)" "" "0000261913" "00024136" "30" "877" "-6" "877" "-6" "c.877-6G>A" "r.(=)" "p.(=)" "" "0000261914" "00024136" "10" "877" "-8" "877" "-8" "c.877-8C>G" "r.(=)" "p.(=)" "" "0000261915" "00024136" "30" "2560" "0" "2560" "0" "c.2560C>T" "r.(?)" "p.(Leu854=)" "" "0000261916" "00024136" "30" "2568" "0" "2568" "0" "c.2568G>A" "r.(?)" "p.(Pro856=)" "" "0000261917" "00024136" "50" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Asp857His)" "" "0000261918" "00024136" "30" "2577" "0" "2577" "0" "c.2577C>T" "r.(?)" "p.(Ala859=)" "" "0000261919" "00024136" "30" "2649" "0" "2649" "0" "c.2649G>A" "r.(?)" "p.(Ala883=)" "" "0000261920" "00024136" "50" "2659" "0" "2659" "0" "c.2659G>A" "r.(?)" "p.(Ala887Thr)" "" "0000261922" "00024136" "50" "537" "-10" "537" "-10" "c.537-10G>A" "r.(=)" "p.(=)" "" "0000261923" "00024136" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0000261924" "00024136" "70" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Ter)" "" "0000261925" "00024136" "70" "586" "0" "586" "0" "c.586del" "r.(?)" "p.(Asp196ThrfsTer14)" "" "0000261926" "00024136" "10" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ser433Leu)" "" "0000261927" "00024136" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Ile461=)" "" "0000261928" "00024136" "10" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "" "0000261929" "00024136" "10" "1515" "15" "1515" "15" "c.1515+15C>T" "r.(=)" "p.(=)" "" "0000261930" "00024136" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "" "0000368359" "00024136" "50" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Glu448Gln)" "12" "0000464291" "00024136" "90" "959" "0" "959" "0" "c.959T>G" "r.(?)" "p.(Leu320Arg)" "" "0000506130" "00024136" "10" "-22" "0" "-22" "0" "c.-22C>T" "r.(?)" "p.(=)" "" "0000506131" "00024136" "50" "7" "0" "7" "0" "c.7C>T" "r.(?)" "p.(Gln3Ter)" "" "0000506132" "00024136" "10" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Pro6=)" "" "0000506133" "00024136" "50" "26" "0" "26" "0" "c.26A>C" "r.(?)" "p.(Gln9Pro)" "" "0000506134" "00024136" "50" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "" "0000506135" "00024136" "30" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "" "0000506136" "00024136" "30" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "" "0000506138" "00024136" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Ile21=)" "" "0000506139" "00024136" "10" "126" "14" "126" "14" "c.126+14C>T" "r.(=)" "p.(=)" "" "0000506140" "00024136" "30" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Ala55=)" "" "0000506141" "00024136" "50" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Thr57Ser)" "" "0000506142" "00024136" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Thr57Ile)" "" "0000506143" "00024136" "30" "242" "-6" "242" "-6" "c.242-6C>T" "r.(=)" "p.(=)" "" "0000506145" "00024136" "30" "366" "0" "370" "0" "c.366_370del" "r.(?)" "p.(Val123TrpfsTer25)" "" "0000506146" "00024136" "50" "419" "0" "419" "0" "c.419G>A" "r.(?)" "p.(Arg140His)" "" "0000506147" "00024136" "50" "432" "0" "433" "0" "c.432_433insT" "r.(?)" "p.(Asp145Ter)" "" "0000506148" "00024136" "30" "449" "-3" "449" "-2" "c.449-3_449-2insTTCT" "r.spl?" "p.?" "" "0000506149" "00024136" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Asn170Asp)" "" "0000506150" "00024136" "50" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Ile173Val)" "" "0000506151" "00024136" "10" "536" "10" "536" "10" "c.536+10C>T" "r.(=)" "p.(=)" "" "0000506152" "00024136" "30" "536" "10" "536" "10" "c.536+10C>T" "r.(=)" "p.(=)" "" "0000506153" "00024136" "10" "536" "10" "536" "10" "c.536+10C>T" "r.(=)" "p.(=)" "" "0000506154" "00024136" "10" "546" "0" "546" "0" "c.546T>C" "r.(?)" "p.(Asp182=)" "" "0000506156" "00024136" "30" "615" "15" "615" "15" "c.615+15C>T" "r.(=)" "p.(=)" "" "0000506157" "00024136" "30" "616" "-3" "616" "-3" "c.616-3C>T" "r.spl?" "p.?" "" "0000506158" "00024136" "50" "674" "0" "674" "0" "c.674T>G" "r.(?)" "p.(Ile225Ser)" "" "0000506159" "00024136" "50" "690" "0" "690" "0" "c.690T>A" "r.(?)" "p.(Asp230Glu)" "" "0000506160" "00024136" "30" "698" "-1183" "698" "-1183" "c.698-1183A>G" "r.(=)" "p.(=)" "" "0000506161" "00024136" "10" "705" "0" "705" "0" "c.705G>C" "r.(?)" "p.(Val235=)" "" "0000506162" "00024136" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(His254=)" "" "0000506163" "00024136" "50" "769" "0" "769" "0" "c.769G>C" "r.(?)" "p.(Ala257Pro)" "" "0000506164" "00024136" "10" "784" "-518" "784" "-518" "c.784-518del" "r.(=)" "p.(=)" "" "0000506165" "00024136" "10" "784" "-518" "784" "-518" "c.784-518del" "r.(=)" "p.(=)" "" "0000506166" "00024136" "10" "877" "-8" "877" "-8" "c.877-8C>G" "r.(=)" "p.(=)" "" "0000506167" "00024136" "30" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000506168" "00024136" "30" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000506169" "00024136" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Trp)" "" "0000506170" "00024136" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Trp)" "" "0000506171" "00024136" "50" "1121" "0" "1121" "0" "c.1121C>A" "r.(?)" "p.(Ala374Asp)" "" "0000506172" "00024136" "50" "1160" "0" "1160" "0" "c.1160A>C" "r.(?)" "p.(Glu387Ala)" "" "0000506173" "00024136" "50" "1162" "0" "1162" "0" "c.1162T>A" "r.(?)" "p.(Trp388Arg)" "" "0000506175" "00024136" "30" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "" "0000506176" "00024136" "30" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "" "0000506177" "00024136" "50" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(His413Tyr)" "" "0000506178" "00024136" "10" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ser433Leu)" "" "0000506179" "00024136" "30" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ser433Leu)" "" "0000506180" "00024136" "30" "1338" "0" "1338" "0" "c.1338G>A" "r.(?)" "p.(Ala446=)" "" "0000506181" "00024136" "10" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Phe447=)" "" "0000506182" "00024136" "30" "1341" "0" "1341" "0" "c.1341C>T" "r.(?)" "p.(Phe447=)" "" "0000506183" "00024136" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Arg457=)" "" "0000506184" "00024136" "50" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Gln460Ter)" "" "0000506185" "00024136" "30" "1383" "0" "1383" "0" "c.1383C>T" "r.(?)" "p.(Ile461=)" "" "0000506186" "00024136" "30" "1406" "16" "1406" "16" "c.1406+16del" "r.(=)" "p.(=)" "" "0000506187" "00024136" "10" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "" "0000506188" "00024136" "50" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "" "0000506189" "00024136" "50" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "" "0000506190" "00024136" "10" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Gln484=)" "" "0000506191" "00024136" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Gln484=)" "" "0000506192" "00024136" "30" "1476" "0" "1476" "0" "c.1476A>T" "r.(?)" "p.(Arg492=)" "" "0000506193" "00024136" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "" "0000506194" "00024136" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "" "0000506195" "00024136" "30" "1485" "0" "1485" "0" "c.1485G>A" "r.(?)" "p.(Thr495=)" "" "0000506196" "00024136" "90" "1495" "0" "1499" "0" "c.1495_1499del" "r.(?)" "p.(Lys499GlufsTer15)" "" "0000506197" "00024136" "30" "1605" "0" "1605" "0" "c.1605T>C" "r.(?)" "p.(Ala535=)" "" "0000506198" "00024136" "50" "1606" "0" "1606" "0" "c.1606A>G" "r.(?)" "p.(Met536Val)" "" "0000506199" "00024136" "10" "1657" "-16" "1657" "-16" "c.1657-16T>C" "r.(=)" "p.(=)" "" "0000506200" "00024136" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Glu567Lys)" "" "0000506201" "00024136" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Glu581Lys)" "" "0000506202" "00024136" "50" "1745" "0" "1745" "0" "c.1745T>C" "r.(?)" "p.(Val582Ala)" "" "0000506204" "00024136" "10" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Met604Val)" "" "0000506205" "00024136" "30" "1811" "0" "1811" "0" "c.1811T>C" "r.(?)" "p.(Met604Thr)" "" "0000506206" "00024136" "30" "1833" "0" "1833" "0" "c.1833G>T" "r.(?)" "p.(Trp611Cys)" "" "0000506207" "00024136" "50" "1907" "0" "1907" "0" "c.1907A>G" "r.(?)" "p.(Glu636Gly)" "" "0000506208" "00024136" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "" "0000506209" "00024136" "30" "1974" "10" "1974" "10" "c.1974+10C>T" "r.(=)" "p.(=)" "" "0000506210" "00024136" "30" "1975" "-12" "1975" "-12" "c.1975-12C>T" "r.(=)" "p.(=)" "" "0000506211" "00024136" "50" "2019" "0" "2019" "0" "c.2019C>A" "r.(?)" "p.(Asp673Glu)" "" "0000506212" "00024136" "50" "2019" "0" "2019" "0" "c.2019C>G" "r.(?)" "p.(Asp673Glu)" "" "0000506213" "00024136" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ile692=)" "" "0000506214" "00024136" "30" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ile692=)" "" "0000506215" "00024136" "50" "2094" "0" "2094" "0" "c.2094C>A" "r.(?)" "p.(Asp698Glu)" "" "0000506216" "00024136" "10" "2139" "0" "2139" "0" "c.2139G>A" "r.(?)" "p.(Thr713=)" "" "0000506218" "00024136" "30" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Met)" "" "0000506219" "00024136" "10" "2367" "8" "2367" "8" "c.2367+8A>G" "r.(=)" "p.(=)" "" "0000506220" "00024136" "30" "2367" "19" "2367" "19" "c.2367+19T>C" "r.(=)" "p.(=)" "" "0000506221" "00024136" "10" "2368" "-17" "2368" "-17" "c.2368-17T>C" "r.(=)" "p.(=)" "" "0000506222" "00024136" "30" "2388" "0" "2388" "0" "c.2388C>T" "r.(?)" "p.(Arg796=)" "" "0000506223" "00024136" "30" "2445" "0" "2445" "0" "c.2445C>T" "r.(?)" "p.(Ile815=)" "" "0000506224" "00024136" "50" "2476" "0" "2476" "0" "c.2476G>A" "r.(?)" "p.(Asp826Asn)" "" "0000506225" "00024136" "30" "2484" "0" "2484" "0" "c.2484C>T" "r.(?)" "p.(Ala828=)" "" "0000506226" "00024136" "50" "2506" "0" "2506" "0" "c.2506C>T" "r.(?)" "p.(Arg836Trp)" "" "0000506227" "00024136" "30" "2526" "4" "2526" "5" "c.2526+4_2526+5insA" "r.spl?" "p.?" "" "0000506228" "00024136" "30" "2526" "5" "2526" "6" "c.2526+5_2526+6insA" "r.spl?" "p.?" "" "0000506229" "00024136" "30" "2526" "8" "2526" "8" "c.2526+8T>C" "r.(=)" "p.(=)" "" "0000506230" "00024136" "10" "2526" "33" "2526" "33" "c.2526+33A>G" "r.(=)" "p.(=)" "" "0000506231" "00024136" "30" "2527" "-20" "2527" "-20" "c.2527-20A>G" "r.(=)" "p.(=)" "" "0000506232" "00024136" "30" "2527" "-13" "2527" "-13" "c.2527-13T>C" "r.(=)" "p.(=)" "" "0000506233" "00024136" "30" "2527" "-4" "2527" "-3" "c.2527-4_2527-3insT" "r.spl?" "p.?" "" "0000506234" "00024136" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Arg851His)" "" "0000506235" "00024136" "50" "2569" "0" "2570" "0" "c.2569_2570insC" "r.(?)" "p.(Asp857AlafsTer83)" "" "0000506236" "00024136" "30" "2587" "0" "2587" "0" "c.2587A>C" "r.(?)" "p.(Ile863Leu)" "" "0000506237" "00024136" "10" "2610" "0" "2610" "0" "c.2610G>A" "r.(?)" "p.(Ser870=)" "" "0000506238" "00024136" "10" "2649" "0" "2649" "0" "c.2649G>A" "r.(?)" "p.(Ala883=)" "" "0000506239" "00024136" "50" "3553" "0" "3553" "0" "c.*868T>G" "r.(=)" "p.(=)" "" "0000506240" "00024136" "50" "3560" "0" "3560" "0" "c.*875G>C" "r.(=)" "p.(=)" "" "0000506241" "00024136" "30" "3973" "0" "3973" "0" "c.*1288T>G" "r.(=)" "p.(=)" "" "0000597736" "00024136" "90" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Cys487Arg)" "" "0000597737" "00024136" "90" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Cys487Arg)" "" "0000597738" "00024136" "90" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Cys487Arg)" "" "0000597739" "00024136" "90" "392" "0" "392" "0" "c.392T>C" "r.(?)" "p.(Leu131Pro)" "" "0000597740" "00024136" "90" "1840" "-2" "1840" "-2" "c.1840-2A>T" "r.spl" "p.?" "" "0000605448" "00024136" "30" "-36" "0" "-36" "0" "c.-36C>T" "r.(?)" "p.(=)" "" "0000605449" "00024136" "30" "22" "0" "22" "0" "c.22G>A" "r.(?)" "p.(Val8Met)" "" "0000605450" "00024136" "50" "71" "0" "71" "0" "c.71A>C" "r.(?)" "p.(Glu24Ala)" "" "0000605451" "00024136" "50" "72" "0" "72" "0" "c.72G>T" "r.(?)" "p.(Glu24Asp)" "" "0000605452" "00024136" "50" "76" "0" "76" "0" "c.76T>C" "r.(?)" "p.(Trp26Arg)" "" "0000605453" "00024136" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "" "0000605454" "00024136" "50" "536" "0" "536" "0" "c.536G>T" "r.(?)" "p.(Ser179Ile)" "" "0000605455" "00024136" "50" "690" "0" "690" "0" "c.690T>A" "r.(?)" "p.(Asp230Glu)" "" "0000605456" "00024136" "30" "771" "0" "771" "0" "c.771G>A" "r.(?)" "p.(Ala257=)" "" "0000605457" "00024136" "50" "808" "0" "808" "0" "c.808T>C" "r.(?)" "p.(Cys270Arg)" "" "0000605458" "00024136" "30" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000605459" "00024136" "50" "1145" "0" "1145" "0" "c.1145A>G" "r.(?)" "p.(Glu382Gly)" "" "0000605460" "00024136" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "" "0000605461" "00024136" "30" "1272" "0" "1272" "0" "c.1272G>A" "r.(?)" "p.(Leu424=)" "" "0000605462" "00024136" "50" "1288" "0" "1288" "0" "c.1288G>A" "r.(?)" "p.(Glu430Lys)" "" "0000605463" "00024136" "10" "1293" "0" "1293" "0" "c.1293G>A" "r.(?)" "p.(Ser431=)" "" "0000605464" "00024136" "50" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "" "0000605465" "00024136" "50" "1573" "0" "1573" "0" "c.1573G>T" "r.(?)" "p.(Ala525Ser)" "" "0000605466" "00024136" "50" "1786" "0" "1786" "0" "c.1786dup" "r.(?)" "p.(Ser596LysfsTer11)" "" "0000605467" "00024136" "30" "1875" "0" "1875" "0" "c.1875G>A" "r.(?)" "p.(Leu625=)" "" "0000605468" "00024136" "50" "2035" "0" "2035" "0" "c.2035A>C" "r.(?)" "p.(Lys679Gln)" "" "0000605469" "00024136" "30" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "" "0000605470" "00024136" "50" "2429" "0" "2430" "0" "c.2429_2430insG" "r.(?)" "p.(Phe811LeufsTer10)" "" "0000605471" "00024136" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Asp816Asn)" "" "0000605472" "00024136" "50" "2495" "0" "2495" "0" "c.2495T>C" "r.(?)" "p.(Ile832Thr)" "" "0000605473" "00024136" "90" "2519" "0" "2520" "0" "c.2519_2520insA" "r.(?)" "p.(Asp841Ter)" "" "0000605474" "00024136" "50" "2526" "5" "2526" "5" "c.2526+5delinsAGA" "r.spl?" "p.?" "" "0000605475" "00024136" "30" "2527" "-18" "2527" "-18" "c.2527-18G>A" "r.(=)" "p.(=)" "" "0000605476" "00024136" "10" "2560" "0" "2560" "0" "c.2560C>T" "r.(?)" "p.(Leu854=)" "" "0000620569" "00024136" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" "0000620570" "00024136" "50" "1286" "0" "1286" "0" "c.1286A>G" "r.(?)" "p.(Tyr429Cys)" "" "0000620571" "00024136" "50" "2200" "0" "2200" "0" "c.2200A>G" "r.(?)" "p.(Thr734Ala)" "" "0000647621" "00024136" "50" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Asp622Asn)" "" "0000647622" "00024136" "70" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640His)" "" "0000652968" "00024136" "50" "2161" "0" "2161" "0" "c.2161C>A" "r.(?)" "p.(Arg721Ser)" "" "0000653096" "00024136" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "" "0000653504" "00024136" "77" "1418" "0" "1418" "0" "c.1418A>G" "r.(?)" "p.(Tyr473Cys)" "13" "0000653508" "00024136" "90" "2180" "0" "2180" "0" "c.2180T>G" "r.(?)" "p.(Leu727Arg)" "" "0000653509" "00024136" "90" "2194" "0" "2226" "0" "c.2194_2226del" "r.(?)" "p.(Ala732_Ile742del)" "" "0000653510" "00024136" "90" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Thr247Met)" "" "0000653511" "00024136" "90" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Thr247Met)" "" "0000653512" "00024136" "90" "740" "0" "740" "0" "c.740C>T" "r.(?)" "p.(Thr247Met)" "" "0000653945" "00024136" "30" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "" "0000653946" "00024136" "50" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Val115Leu)" "" "0000653947" "00024136" "10" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Ile218=)" "" "0000653948" "00024136" "50" "784" "-539" "784" "-539" "c.784-539C>T" "r.(=)" "p.(=)" "" "0000653949" "00024136" "10" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Tyr385=)" "" "0000653950" "00024136" "10" "1975" "-6" "1975" "-6" "c.1975-6C>G" "r.(=)" "p.(=)" "" "0000653951" "00024136" "10" "2076" "0" "2076" "0" "c.2076C>T" "r.(?)" "p.(Ile692=)" "" "0000653952" "00024136" "10" "2161" "0" "2161" "0" "c.2161C>A" "r.(?)" "p.(Arg721Ser)" "" "0000653953" "00024136" "50" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Arg796Cys)" "" "0000653954" "00024136" "50" "2436" "0" "2436" "0" "c.2436A>T" "r.(?)" "p.(Gln812His)" "" "0000653955" "00024136" "50" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Asp857His)" "" "0000675726" "00024136" "30" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "" "0000675727" "00024136" "30" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Met604Val)" "" "0000675728" "00024136" "30" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Asp622Asn)" "" "0000675729" "00024136" "30" "1929" "0" "1929" "0" "c.1929T>C" "r.(?)" "p.(Ala643=)" "" "0000675730" "00024136" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "" "0000675731" "00024136" "30" "2412" "0" "2412" "0" "c.2412C>T" "r.(?)" "p.(Asn804=)" "" "0000688083" "00024136" "10" "1256" "-13" "1256" "-13" "c.1256-13A>T" "r.(=)" "p.(=)" "" "0000688084" "00024136" "30" "1452" "0" "1452" "0" "c.1452G>A" "r.(?)" "p.(Gln484=)" "" "0000688085" "00024136" "50" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Ala525Thr)" "" "0000688086" "00024136" "30" "1656" "16" "1656" "16" "c.1656+16C>T" "r.(=)" "p.(=)" "" "0000688087" "00024136" "50" "2213" "0" "2213" "0" "c.2213T>A" "r.(?)" "p.(Val738Glu)" "" "0000688088" "00024136" "10" "2235" "0" "2235" "0" "c.2235A>G" "r.(?)" "p.(Arg745=)" "" "0000688089" "00024136" "50" "2650" "0" "2650" "0" "c.2650T>C" "r.(?)" "p.(Phe884Leu)" "" "0000700000" "00024136" "50" "58" "0" "58" "0" "c.58A>G" "r.(?)" "p.(Met20Val)" "" "0000700001" "00024136" "50" "274" "0" "274" "0" "c.274A>G" "r.(?)" "p.(Met92Val)" "" "0000700002" "00024136" "50" "690" "0" "690" "0" "c.690T>A" "r.(?)" "p.(Asp230Glu)" "" "0000700003" "00024136" "50" "979" "0" "979" "0" "c.979C>T" "r.(?)" "p.(Arg327Cys)" "" "0000700004" "00024136" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Trp)" "" "0000700005" "00024136" "50" "1771" "0" "1771" "0" "c.1771A>G" "r.(?)" "p.(Ile591Val)" "" "0000700006" "00024136" "50" "1958" "0" "1958" "0" "c.1958T>C" "r.(?)" "p.(Ile653Thr)" "" "0000700606" "00024136" "50" "130" "0" "130" "0" "c.130T>C" "r.(?)" "p.(Phe44Leu)" "" "0000700607" "00024136" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "" "0000700608" "00024136" "50" "2289" "0" "2289" "0" "c.2289C>G" "r.(?)" "p.(Asn763Lys)" "" "0000700873" "00024136" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Trp)" "" "0000700874" "00024136" "50" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(Trp531*)" "" "0000700875" "00024136" "50" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Arg796Cys)" "" "0000701498" "00024136" "50" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Val115Met)" "" "0000701499" "00024136" "50" "736" "0" "736" "0" "c.736A>G" "r.(?)" "p.(Met246Val)" "" "0000701500" "00024136" "50" "1384" "0" "1384" "0" "c.1384G>T" "r.(?)" "p.(Ala462Ser)" "" "0000701501" "00024136" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Trp)" "" "0000701502" "00024136" "50" "2003" "0" "2003" "0" "c.2003C>G" "r.(?)" "p.(Thr668Arg)" "" "0000701759" "00024136" "50" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(His775Tyr)" "" "0000701760" "00024136" "50" "2567" "0" "2567" "0" "c.2567C>T" "r.(?)" "p.(Pro856Leu)" "" "0000704291" "00024136" "50" "2573" "0" "2573" "0" "c.2573A>C" "r.(?)" "p.(Gln858Pro)" "" "0000704292" "00024136" "70" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Ala119Thr)" "" "0000704293" "00024136" "50" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Ala868Thr)" "21" "0000717300" "00024136" "10" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Ser147=)" "" "0000717301" "00024136" "50" "551" "0" "551" "0" "c.551T>G" "r.(?)" "p.(Leu184Arg)" "" "0000717302" "00024136" "30" "616" "-3" "616" "-3" "c.616-3C>T" "r.spl?" "p.?" "" "0000717303" "00024136" "50" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Ser369=)" "" "0000717304" "00024136" "50" "1336" "0" "1336" "0" "c.1336G>T" "r.(?)" "p.(Ala446Ser)" "" "0000717305" "00024136" "10" "1512" "0" "1512" "0" "c.1512A>G" "r.(?)" "p.(Leu504=)" "" "0000717306" "00024136" "50" "2003" "0" "2003" "0" "c.2003C>G" "r.(?)" "p.(Thr668Arg)" "" "0000717307" "00024136" "30" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "" "0000717308" "00024136" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Asp816Asn)" "" "0000717309" "00024136" "30" "2578" "0" "2578" "0" "c.2578C>G" "r.(?)" "p.(Gln860Glu)" "" "0000783231" "00024136" "55" "241" "413" "566" "0" "c.241+413_566del" "r.?" "p.?" "2i_6" "0000783232" "00024136" "77" "668" "0" "668" "0" "c.668T>C" "r.(?)" "p.(Leu223Pro)" "7" "0000789641" "00024136" "50" "1442" "0" "1442" "0" "c.1442A>G" "r.(?)" "p.(Asp481Gly)" "" "0000799200" "00024136" "30" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Ala55=)" "" "0000799201" "00024136" "10" "537" "-11" "537" "-11" "c.537-11C>T" "r.(=)" "p.(=)" "" "0000799202" "00024136" "10" "546" "0" "546" "0" "c.546T>C" "r.(?)" "p.(Asp182=)" "" "0000799203" "00024136" "30" "1032" "0" "1032" "0" "c.1032C>T" "r.(?)" "p.(Asn344=)" "" "0000799204" "00024136" "50" "1067" "0" "1067" "0" "c.1067A>T" "r.(?)" "p.(Asn356Ile)" "" "0000799205" "00024136" "50" "1439" "0" "1439" "0" "c.1439A>G" "r.(?)" "p.(Asn480Ser)" "" "0000799206" "00024136" "50" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "" "0000799207" "00024136" "50" "1497" "0" "1497" "0" "c.1497G>C" "r.(?)" "p.(Lys499Asn)" "" "0000799208" "00024136" "30" "1512" "0" "1512" "0" "c.1512A>G" "r.(?)" "p.(Leu504=)" "" "0000799209" "00024136" "30" "1516" "-3" "1516" "-3" "c.1516-3T>C" "r.spl?" "p.?" "" "0000799210" "00024136" "50" "1984" "0" "1984" "0" "c.1984C>T" "r.(?)" "p.(Arg662Trp)" "" "0000799211" "00024136" "30" "2601" "0" "2601" "0" "c.2601C>T" "r.(?)" "p.(Pro867=)" "" "0000833728" "00024136" "10" "1657" "-29" "1657" "-26" "c.1657-29_1657-26del" "r.(?)" "p.(?)" "" "0000833729" "00024136" "10" "877" "-8" "877" "-8" "c.877-8C>G" "r.(?)" "p.(?)" "" "0000842562" "00024136" "77" "332" "0" "332" "0" "c.332G>T" "r.(?)" "p.(Gly111Val)" "" "0000846470" "00024136" "70" "2555" "0" "2556" "0" "c.2555_2556insT" "r.(?)" "p.(Glu853GlyfsTer87)" "" "0000848595" "00024136" "30" "126" "3" "126" "4" "c.126+3_126+4insCT" "r.spl?" "p.?" "" "0000848596" "00024136" "30" "127" "-3" "127" "-3" "c.127-3C>A" "r.spl?" "p.?" "" "0000848597" "00024136" "30" "127" "-3" "127" "-3" "c.127-3C>A" "r.spl?" "p.?" "" "0000848598" "00024136" "50" "746" "0" "746" "0" "c.746T>C" "r.(?)" "p.(Val249Ala)" "" "0000848599" "00024136" "30" "947" "0" "947" "0" "c.947T>C" "r.(?)" "p.(Met316Thr)" "" "0000848600" "00024136" "50" "1162" "0" "1162" "0" "c.1162T>A" "r.(?)" "p.(Trp388Arg)" "" "0000848601" "00024136" "50" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "" "0000848602" "00024136" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Leu)" "" "0000848603" "00024136" "30" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Ser431Leu)" "" "0000848604" "00024136" "50" "1312" "0" "1312" "0" "c.1312C>T" "r.(?)" "p.(Arg438Trp)" "" "0000848605" "00024136" "10" "1332" "0" "1332" "0" "c.1332C>T" "r.(?)" "p.(His444=)" "" "0000848606" "00024136" "30" "1407" "0" "1407" "0" "c.1407T>C" "r.(?)" "p.(Asn469=)" "" "0000848607" "00024136" "30" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Ala476Thr)" "" "0000848608" "00024136" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Glu567Lys)" "" "0000848609" "00024136" "30" "1708" "0" "1708" "0" "c.1708G>A" "r.(?)" "p.(Gly570Arg)" "" "0000848610" "00024136" "30" "2376" "0" "2376" "0" "c.2376C>T" "r.(?)" "p.(Ala792=)" "" "0000848611" "00024136" "30" "2601" "0" "2601" "0" "c.2601C>T" "r.(?)" "p.(Pro867=)" "" "0000857372" "00024136" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Pro309=)" "" "0000857373" "00024136" "10" "1656" "12" "1656" "12" "c.1656+12G>A" "r.(=)" "p.(=)" "" "0000872468" "00024136" "75" "2276" "0" "2276" "0" "c.2276G>C" "r.(?)" "p.(Arg759Thr)" "" "0000872662" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872664" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872665" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872666" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872667" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872668" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872669" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872670" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872671" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872672" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872673" "00024136" "70" "683" "0" "683" "0" "c.683T>C" "r.(?)" "p.(Met228Thr)" "7" "0000872678" "00024136" "70" "2578" "0" "2578" "0" "c.2578C>T" "r.(?)" "p.(Gln860*)" "21" "0000872679" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872680" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872681" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872682" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872683" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872684" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872685" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872686" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872687" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872688" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872689" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872690" "00024136" "50" "698" "-128" "1107" "261" "c.698-128_1107+261delins1108-1302_1108-1262" "r.?" "p.?" "7i_10i" "0000872691" "00024136" "55" "1748" "0" "1748" "0" "c.1748A>C" "r.(?)" "p.(Glu583Ala)" "15" "0000872692" "00024136" "50" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Glu628Gly)" "16" "0000872693" "00024136" "50" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Glu628Gly)" "16" "0000872694" "00024136" "50" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Glu628Gly)" "16" "0000872695" "00024136" "70" "2504" "0" "2504" "0" "c.2504del" "r.(?)" "p.(Phe835Serfs*66)" "20" "0000872696" "00024136" "70" "2504" "0" "2504" "0" "c.2504del" "r.(?)" "p.(Phe835Serfs*66)" "20" "0000872697" "00024136" "70" "2504" "0" "2504" "0" "c.2504del" "r.(?)" "p.(Phe835Serfs*66)" "20" "0000872862" "00024136" "55" "196" "0" "196" "0" "c.196T>A" "r.(?)" "p.(Phe66Ile)" "2" "0000872869" "00024136" "55" "203" "0" "203" "0" "c.203A>G" "r.(?)" "p.(Asn68Ser)" "2" "0000872870" "00024136" "55" "686" "0" "686" "0" "c.686T>G" "r.(?)" "p.(Leu229Trp)" "7" "0000872871" "00024136" "55" "167" "0" "167" "0" "c.167G>A" "r.(?)" "p.(Gly56Asp)" "2" "0000872872" "00024136" "55" "175" "0" "175" "0" "c.175A>G" "r.(?)" "p.(Ile59Val)" "2" "0000872873" "00024136" "55" "302" "0" "302" "0" "c.302A>G" "r.(?)" "p.(Asn101Ser)" "3" "0000872880" "00024136" "55" "401" "0" "401" "0" "c.401T>A" "r.(?)" "p.(Ile134Asn)" "4" "0000872889" "00024136" "55" "496" "0" "496" "0" "c.496G>C" "r.(?)" "p.(Ala166Pro)" "5" "0000872890" "00024136" "55" "593" "0" "593" "0" "c.593T>C" "r.(?)" "p.(Ile198Thr)" "6" "0000872891" "00024136" "33" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "10" "0000872892" "00024136" "55" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "10" "0000872897" "00024136" "55" "980" "0" "980" "0" "c.980G>A" "r.(?)" "p.(Arg327His)" "10" "0000872898" "00024136" "55" "1070" "0" "1070" "0" "c.1070G>A" "r.(?)" "p.(Arg357His)" "10" "0000872899" "00024136" "55" "1106" "0" "1106" "0" "c.1106C>G" "r.(?)" "p.(Ser369Trp)" "10" "0000872901" "00024136" "55" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Ser369Leu)" "10" "0000872902" "00024136" "55" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Trp)" "11" "0000872903" "00024136" "55" "1232" "0" "1232" "0" "c.1232C>T" "r.(?)" "p.(Ser411Leu)" "11" "0000872904" "00024136" "55" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "11" "0000872905" "00024136" "55" "1241" "0" "1241" "0" "c.1241A>C" "r.(?)" "p.(Glu414Ala)" "11" "0000872907" "00024136" "55" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ser433Leu)" "12" "0000872908" "00024136" "55" "1384" "0" "1384" "0" "c.1384G>T" "r.(?)" "p.(Ala462Ser)" "12" "0000872909" "00024136" "55" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Ala476Thr)" "13" "0000872910" "00024136" "55" "1444" "0" "1444" "0" "c.1444C>T" "r.(?)" "p.(Arg482Trp)" "13" "0000872911" "00024136" "55" "1468" "0" "1468" "0" "c.1468T>C" "r.(?)" "p.(Trp490Arg)" "13" "0000872912" "00024136" "55" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492*)" "13" "0000872913" "00024136" "55" "1538" "0" "1538" "0" "c.1538C>A" "r.(?)" "p.(Thr513Asn)" "14" "0000872914" "00024136" "55" "1538" "0" "1538" "0" "c.1538C>A" "r.(?)" "p.(Thr513Asn)" "14" "0000872921" "00024136" "55" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(His518Tyr)" "14" "0000872926" "00024136" "55" "1691" "0" "1691" "0" "c.1691C>T" "r.(?)" "p.(Thr564Met)" "15" "0000872927" "00024136" "55" "1708" "0" "1708" "0" "c.1708G>A" "r.(?)" "p.(Gly570Arg)" "15" "0000872928" "00024136" "55" "1789" "0" "1789" "0" "c.1789A>C" "r.(?)" "p.(Asn597His)" "15" "0000872929" "00024136" "55" "1822" "0" "1822" "0" "c.1822C>T" "r.(?)" "p.(Arg608Trp)" "15" "0000872930" "00024136" "55" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "15" "0000872931" "00024136" "55" "1823" "0" "1823" "0" "c.1823G>A" "r.(?)" "p.(Arg608Gln)" "15" "0000872932" "00024136" "55" "1891" "0" "1891" "0" "c.1891C>T" "r.(?)" "p.(Arg631Cys)" "16" "0000872933" "00024136" "55" "1919" "0" "1919" "0" "c.1919G>A" "r.(?)" "p.(Arg640His)" "16" "0000872934" "00024136" "55" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "16" "0000872935" "00024136" "55" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "16" "0000872943" "00024136" "55" "1979" "0" "1979" "0" "c.1979T>C" "r.(?)" "p.(Ile660Thr)" "17" "0000872944" "00024136" "55" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "17" "0000872945" "00024136" "55" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "17" "0000872946" "00024136" "55" "2240" "0" "2240" "0" "c.2240C>T" "r.(?)" "p.(Ala747Val)" "18" "0000872947" "00024136" "55" "2244" "0" "2244" "0" "c.2244G>C" "r.(?)" "p.(Lys748Asn)" "18" "0000872959" "00024136" "55" "2402" "0" "2402" "0" "c.2402T>A" "r.(?)" "p.(Val801Glu)" "20" "0000872960" "00024136" "55" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Val809Ile)" "20" "0000872961" "00024136" "55" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Arg851His)" "21" "0000872962" "00024136" "55" "2573" "0" "2573" "0" "c.2573A>C" "r.(?)" "p.(Gln858Pro)" "21" "0000872963" "00024136" "55" "2594" "0" "2594" "0" "c.2594G>C" "r.(?)" "p.(Arg865Thr)" "21" "0000872964" "00024136" "55" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Ala868Thr)" "21" "0000872965" "00024136" "55" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Ala868Thr)" "21" "0000872967" "00024136" "73" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "1" "0000872968" "00024136" "33" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Met604Val)" "" "0000872973" "00024136" "75" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Val115Met)" "3" "0000872974" "00024136" "75" "2520" "0" "2520" "0" "c.2520del" "r.(?)" "p.(Asp841Ilefs*60)" "20" "0000872975" "00024136" "55" "2194" "0" "2194" "0" "c.2194G>A" "r.(?)" "p.(Ala732Thr)" "18" "0000872976" "00024136" "73" "2323" "0" "2323" "0" "c.2323C>T" "r.(?)" "p.(His775Tyr)" "19" "0000872977" "00024136" "33" "762" "0" "762" "0" "c.762C>T" "r.(=)" "p.(=)" "8" "0000872978" "00024136" "55" "1046" "0" "1046" "0" "c.1046A>T" "r.(?)" "p.(Gln349Leu)" "10" "0000872979" "00024136" "55" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "13" "0000872980" "00024136" "33" "18" "0" "18" "0" "c.18C>T" "r.(=)" "p.(=)" "1" "0000872981" "00024136" "33" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "1" "0000872982" "00024136" "33" "48" "0" "48" "0" "c.48G>A" "r.(=)" "p.(=)" "1" "0000872983" "00024136" "33" "93" "0" "93" "0" "c.93C>T" "r.(=)" "p.(=)" "1" "0000872984" "00024136" "33" "165" "0" "165" "0" "c.165C>T" "r.(=)" "p.(=)" "2" "0000872985" "00024136" "33" "186" "0" "186" "0" "c.186C>T" "r.(=)" "p.(=)" "2" "0000872986" "00024136" "33" "762" "0" "762" "0" "c.762C>T" "r.(=)" "p.(=)" "8" "0000872987" "00024136" "55" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "10" "0000872988" "00024136" "33" "1104" "0" "1104" "0" "c.1104G>A" "r.(=)" "p.(=)" "10" "0000872989" "00024136" "55" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "11" "0000872990" "00024136" "33" "1338" "0" "1338" "0" "c.1338G>A" "r.(=)" "p.(=)" "12" "0000872991" "00024136" "33" "1383" "0" "1383" "0" "c.1383C>T" "r.(=)" "p.(=)" "12" "0000872992" "00024136" "55" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "16" "0000872993" "00024136" "55" "2161" "0" "2161" "0" "c.2161C>A" "r.(?)" "p.(Arg721Ser)" "18" "0000872994" "00024136" "33" "2568" "0" "2568" "0" "c.2568G>A" "r.(=)" "p.(=)" "21" "0000872995" "00024136" "33" "2676" "0" "2676" "0" "c.2676C>T" "r.(=)" "p.(=)" "21" "0000872996" "00024136" "55" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "13" "0000872997" "00024136" "55" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Asp857His)" "21" "0000872998" "00024136" "55" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "16" "0000872999" "00024136" "75" "1002" "0" "1002" "0" "c.1002G>C" "r.(?)" "p.(Lys334Asn)" "10" "0000873008" "00024136" "30" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328Gln)" "10" "0000873009" "00024136" "10" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "16" "0000873015" "00024136" "70" "523" "0" "523" "0" "c.523A>T" "r.(?)" "p.(Asn175Tyr)" "5" "0000873022" "00024136" "50" "1193" "0" "1193" "0" "c.1193G>A" "r.(?)" "p.(Arg398His)" "" "0000873024" "00024136" "50" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Arg457Cys)" "12" "0000873025" "00024136" "50" "1839" "5" "1839" "5" "c.1839+5G>C" "r.spl?" "p.?" "" "0000873026" "00024136" "70" "2113" "0" "2113" "0" "c.2113G>A" "r.(?)" "p.(Ala705Thr)" "17" "0000873027" "00024136" "50" "2545" "0" "2545" "0" "c.2545G>A" "r.(?)" "p.(Glu849Lys)" "21" "0000873029" "00024136" "50" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asn529Ser)" "14" "0000873031" "00024136" "50" "155" "0" "155" "0" "c.155T>G" "r.(?)" "p.(Leu52Arg)" "2" "0000873032" "00024136" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "3" "0000873033" "00024136" "50" "1379" "0" "1379" "0" "c.1379A>G" "r.(?)" "p.(Gln460Arg)" "12" "0000873034" "00024136" "50" "2629" "0" "2629" "0" "c.2629G>T" "r.(?)" "p.(Gly877Cys)" "21" "0000873035" "00024136" "50" "1411" "0" "1411" "0" "c.1411C>G" "r.(?)" "p.(Leu471Val)" "13" "0000873036" "00024136" "55" "1343" "0" "1343" "0" "c.1343A>C" "r.(?)" "p.(Glu448Ala)" "12" "0000873037" "00024136" "55" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Thr347Met)" "10" "0000873038" "00024136" "55" "2546" "0" "2546" "0" "c.2546A>G" "r.(?)" "p.(Glu849Gly)" "21" "0000873039" "00024136" "55" "2678" "0" "2678" "0" "c.2678A>G" "r.(?)" "p.(Asp893Gly)" "21" "0000873040" "00024136" "55" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "1" "0000873041" "00024136" "33" "1305" "0" "1305" "0" "c.1305A>C" "r.(=)" "p.(=)" "12" "0000873042" "00024136" "55" "1907" "0" "1907" "0" "c.1907A>G" "r.(?)" "p.(Glu636Gly)" "16" "0000873043" "00024136" "55" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "13" "0000873044" "00024136" "55" "883" "0" "883" "0" "c.883G>T" "r.(?)" "p.(Glu295*)" "10" "0000873045" "00024136" "50" "1058" "0" "1058" "0" "c.1058G>A" "r.(?)" "p.(Arg353Gln)" "10" "0000873046" "00024136" "50" "1630" "0" "1630" "0" "c.1630A>C" "r.(?)" "p.(Ile544Leu)" "14" "0000873047" "00024136" "50" "2669" "0" "2669" "0" "c.2669G>A" "r.(?)" "p.(Gly890Glu)" "21" "0000873048" "00024136" "50" "433" "0" "433" "0" "c.433delinsTT" "r.(?)" "p.(Asp145Leufs*5)" "4" "0000873049" "00024136" "55" "253" "0" "253" "0" "c.253C>T" "r.(?)" "p.(Pro85Ser)" "3" "0000873050" "00024136" "55" "2386" "0" "2386" "0" "c.2386C>T" "r.(?)" "p.(Arg796Cys)" "20" "0000873064" "00024136" "75" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "13" "0000873066" "00024136" "33" "411" "0" "411" "0" "c.411C>A" "r.(=)" "p.(=)" "" "0000873067" "00024136" "11" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Asp325Tyr)" "" "0000873068" "00024136" "53" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Ala868Thr)" "21" "0000873069" "00024136" "55" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "10" "0000873070" "00024136" "55" "2024" "0" "2024" "0" "c.2024T>C" "r.(?)" "p.(Met675Thr)" "17" "0000873071" "00024136" "55" "964" "0" "964" "0" "c.964G>A" "r.(?)" "p.(Asp322Asn)" "10" "0000873072" "00024136" "55" "1500" "0" "1502" "0" "c.1500_1502del" "r.(?)" "p.(Arg501del)" "13" "0000873073" "00024136" "55" "1991" "0" "1991" "0" "c.1991C>G" "r.(?)" "p.(Ser664Cys)" "17" "0000873290" "00024136" "70" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "5" "0000873291" "00024136" "70" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Val115Met)" "3" "0000873292" "00024136" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Trp)" "15" "0000873294" "00024136" "50" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "11" "0000873295" "00024136" "50" "2003" "0" "2003" "0" "c.2003C>G" "r.(?)" "p.(Thr668Arg)" "17" "0000873296" "00024136" "50" "877" "-6" "877" "-6" "c.877-6G>A" "r.(=)" "p.(=)" "" "0000873297" "00024136" "50" "877" "-6" "877" "-6" "c.877-6G>A" "r.(=)" "p.(=)" "" "0000873298" "00024136" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Arg328Gln)" "10" "0000873299" "00024136" "50" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(Glu628Gly)" "16" "0000873300" "00024136" "50" "1748" "0" "1748" "0" "c.1748A>C" "r.(?)" "p.(Glu583Ala)" "15" "0000873301" "00024136" "50" "646" "0" "646" "0" "c.646A>G" "r.(?)" "p.(Met216Val)" "7" "0000873302" "00024136" "50" "899" "0" "899" "0" "c.899C>T" "r.(?)" "p.(Thr300Met)" "10" "0000873303" "00024136" "50" "2425" "0" "2425" "0" "c.2425G>A" "r.(?)" "p.(Val809Ile)" "20" "0000873304" "00024136" "50" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(His518Tyr)" "5" "0000873305" "00024136" "50" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(His518Tyr)" "5" "0000873306" "00024136" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Arg851His)" "21" "0000873307" "00024136" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Arg851His)" "21" "0000873308" "00024136" "50" "1433" "0" "1433" "0" "c.1433A>T" "r.(?)" "p.(Asn478Ile)" "13" "0000873309" "00024136" "50" "1307" "0" "1307" "0" "c.1307A>C" "r.(?)" "p.(Glu436Ala)" "12" "0000873310" "00024136" "50" "690" "0" "690" "0" "c.690T>A" "r.(?)" "p.(Asp230Glu)" "7" "0000873311" "00024136" "50" "1295" "0" "1295" "0" "c.1295C>T" "r.(?)" "p.(Ala432Val)" "12" "0000873312" "00024136" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Leu186Phe)" "6" "0000873313" "00024136" "50" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "11" "0000873315" "00024136" "50" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "16" "0000873316" "00024136" "50" "1771" "0" "1771" "0" "c.1771A>G" "r.(?)" "p.(Ile591Val)" "6" "0000873317" "00024136" "50" "2231" "0" "2231" "0" "c.2231C>T" "r.(?)" "p.(Thr744Met)" "8" "0000873319" "00024136" "50" "1342" "0" "1342" "0" "c.1342G>A" "r.(?)" "p.(Glu448Lys)" "12" "0000873320" "00024136" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Glu581Lys)" "15" "0000873322" "00024136" "70" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192*)" "6" "0000873323" "00024136" "70" "909" "0" "909" "0" "c.909G>A" "r.(?)" "p.(Trp303*)" "10" "0000873324" "00024136" "50" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Asp857His)" "21" "0000873325" "00024136" "70" "586" "0" "586" "0" "c.586del" "r.(?)" "p.(Asp196Thrfs*14)" "6" "0000873328" "00024136" "50" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Asp622Asn)" "16" "0000873329" "00024136" "50" "2003" "0" "2003" "0" "c.2003C>G" "r.(?)" "p.(Thr668Arg)" "17" "0000873331" "00024136" "50" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ser433Leu)" "12" "0000873333" "00024136" "50" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "11" "0000873334" "00024136" "50" "690" "0" "690" "0" "c.690T>A" "r.(?)" "p.(Asp230Glu)" "" "0000873335" "00024136" "50" "1624" "0" "1624" "0" "c.1624A>G" "r.(?)" "p.(Met542Val)" "14" "0000873336" "00024136" "50" "2629" "0" "2629" "0" "c.2629G>T" "r.(?)" "p.(Gly877Cys)" "21" "0000873337" "00024136" "50" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "16" "0000873338" "00024136" "50" "2476" "0" "2476" "0" "c.2476G>A" "r.(?)" "p.(Asp826Asn)" "20" "0000873339" "00024136" "50" "995" "0" "995" "0" "c.995C>A" "r.(?)" "p.(Pro332Gln)" "10" "0000873340" "00024136" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "10" "0000873662" "00024136" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "10" "0000873664" "00024136" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "10" "0000873665" "00024136" "50" "959" "0" "959" "0" "c.959T>G" "r.(?)" "p.(Leu320Arg)" "10" "0000873667" "00024136" "50" "1159" "0" "1159" "0" "c.1159G>C" "r.(?)" "p.(Glu387Gln)" "11" "0000873669" "00024136" "50" "1159" "0" "1159" "0" "c.1159G>C" "r.(?)" "p.(Glu387Gln)" "11" "0000873670" "00024136" "50" "1162" "0" "1162" "0" "c.1162T>A" "r.(?)" "p.(Trp388Arg)" "11" "0000873671" "00024136" "50" "1162" "0" "1162" "0" "c.1162T>A" "r.(?)" "p.(Trp388Arg)" "11" "0000873672" "00024136" "50" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Cys)" "11" "0000873673" "00024136" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "13" "0000873674" "00024136" "50" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Asp475Asn)" "13" "0000873676" "00024136" "50" "1541" "0" "1541" "0" "c.1541T>C" "r.(?)" "p.(Ile514Thr)" "14" "0000873677" "00024136" "50" "1606" "0" "1606" "0" "c.1606A>G" "r.(?)" "p.(Met536Val)" "14" "0000873678" "00024136" "50" "1646" "0" "1646" "0" "c.1646A>T" "r.(?)" "p.(Glu549Val)" "14" "0000873679" "00024136" "50" "166" "0" "166" "0" "c.166G>A" "r.(?)" "p.(Gly56Ser)" "15" "0000873680" "00024136" "50" "2368" "-1" "2368" "-1" "c.2368-1G>A" "r.spl?" "p.?" "" "0000873681" "00024136" "50" "1918" "0" "1918" "0" "c.1918C>T" "r.(?)" "p.(Arg640Cys)" "16" "0000873683" "00024136" "50" "2552" "0" "2552" "0" "c.2552G>A" "r.(?)" "p.(Arg851His)" "21" "0000873685" "00024136" "50" "2051" "0" "2051" "0" "c.2051A>T" "r.(?)" "p.(Asn684Ile)" "17" "0000873686" "00024136" "50" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Asp857His)" "21" "0000873687" "00024136" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Asn170Asp)" "5" "0000873688" "00024136" "50" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Ile173Val)" "5" "0000873689" "00024136" "50" "1342" "0" "1342" "0" "c.1342G>C" "r.(?)" "p.(Glu448Gln)" "12" "0000873690" "00024136" "50" "794" "0" "794" "0" "c.794C>T" "r.(?)" "p.(Ala265Val)" "9" "0000873691" "00024136" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "10" "0000873692" "00024136" "11" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Gln9Arg)" "1" "0000873693" "00024136" "50" "1040" "0" "1040" "0" "c.1040C>T" "r.(?)" "p.(Thr347Met)" "10" "0000883239" "00024136" "30" "126" "6" "126" "6" "c.126+6del" "r.(=)" "p.(=)" "" "0000883240" "00024136" "30" "165" "0" "165" "0" "c.165C>T" "r.(?)" "p.(Ala55=)" "" "0000883241" "00024136" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93Gln)" "" "0000883242" "00024136" "10" "546" "0" "546" "0" "c.546T>C" "r.(?)" "p.(Asp182=)" "" "0000883243" "00024136" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Ala219Thr)" "" "0000883244" "00024136" "50" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "" "0000883245" "00024136" "10" "1107" "0" "1107" "0" "c.1107G>A" "r.(?)" "p.(Ser369=)" "" "0000883246" "00024136" "50" "1390" "0" "1390" "0" "c.1390A>G" "r.(?)" "p.(Ile464Val)" "" "0000883247" "00024136" "50" "1547" "0" "1547" "0" "c.1547A>G" "r.(?)" "p.(Gln516Arg)" "" "0000883248" "00024136" "30" "1614" "0" "1614" "0" "c.1614T>C" "r.(?)" "p.(Asp538=)" "" "0000883249" "00024136" "30" "1708" "0" "1708" "0" "c.1708G>A" "r.(?)" "p.(Gly570Arg)" "" "0000883250" "00024136" "30" "2148" "0" "2148" "0" "c.2148G>A" "r.(?)" "p.(Thr716=)" "" "0000883251" "00024136" "50" "2154" "5" "2154" "5" "c.2154+5G>A" "r.spl?" "p.?" "" "0000883252" "00024136" "10" "2154" "20" "2154" "20" "c.2154+20G>A" "r.(=)" "p.(=)" "" "0000883253" "00024136" "30" "2226" "0" "2226" "0" "c.2226C>T" "r.(?)" "p.(Ile742=)" "" "0000883254" "00024136" "30" "2475" "0" "2475" "0" "c.2475C>T" "r.(?)" "p.(Thr825=)" "" "0000883255" "00024136" "50" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852Gln)" "" "0000883256" "00024136" "30" "2560" "0" "2560" "0" "c.2560C>T" "r.(?)" "p.(Leu854=)" "" "0000883257" "00024136" "50" "2567" "0" "2567" "0" "c.2567C>T" "r.(?)" "p.(Pro856Leu)" "" "0000883258" "00024136" "50" "2609" "0" "2609" "0" "c.2609C>T" "r.(?)" "p.(Ser870Leu)" "" "0000910990" "00024136" "50" "636" "0" "638" "0" "c.636_638dup" "r.(?)" "p.(Asn213dup)" "" "0000910991" "00024136" "30" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "" "0000910992" "00024136" "50" "1691" "0" "1691" "0" "c.1691C>T" "r.(?)" "p.(Thr564Met)" "" "0000910993" "00024136" "30" "2367" "8" "2367" "8" "c.2367+8A>G" "r.(=)" "p.(=)" "" "0000923120" "00024136" "10" "1287" "0" "1287" "0" "c.1287C>T" "r.(?)" "p.(Tyr429=)" "" "0000923121" "00024136" "10" "1406" "16" "1406" "16" "c.1406+16del" "r.(=)" "p.(=)" "" "0000923122" "00024136" "10" "1602" "0" "1602" "0" "c.1602C>T" "r.(?)" "p.(Gly534=)" "" "0000923123" "00024136" "10" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Ala661=)" "" "0000923124" "00024136" "50" "2108" "0" "2108" "0" "c.2108A>T" "r.(?)" "p.(Gln703Leu)" "" "0000923125" "00024136" "50" "2194" "0" "2194" "0" "c.2194G>T" "r.(?)" "p.(Ala732Ser)" "" "0000923126" "00024136" "50" "2435" "0" "2435" "0" "c.2435A>C" "r.(?)" "p.(Gln812Pro)" "" "0000923127" "00024136" "50" "2446" "0" "2446" "0" "c.2446G>A" "r.(?)" "p.(Asp816Asn)" "" "0000928133" "00024136" "50" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(=)" "" "0000928134" "00024136" "30" "1298" "0" "1298" "0" "c.1298C>T" "r.(?)" "p.(Ser433Leu)" "" "0000928135" "00024136" "10" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Arg457=)" "" "0000928136" "00024136" "30" "1657" "-16" "1657" "-16" "c.1657-16T>C" "r.(=)" "p.(=)" "" "0000928137" "00024136" "50" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "" "0000928138" "00024136" "30" "2147" "0" "2147" "0" "c.2147C>T" "r.(?)" "p.(Thr716Met)" "" "0000928139" "00024136" "10" "2376" "0" "2376" "0" "c.2376C>T" "r.(?)" "p.(Ala792=)" "" "0000947172" "00024136" "50" "1538" "0" "1538" "0" "c.1538C>A" "r.(?)" "p.(Thr513Asn)" "" "0000947173" "00024136" "50" "1538" "0" "1538" "0" "c.1538C>A" "r.(?)" "p.(Thr513Asn)" "" "0000947174" "00024136" "10" "2430" "0" "2430" "0" "c.2430C>A" "r.(?)" "p.(=)" "" "0000957766" "00024136" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000957918" "00024136" "50" "893" "0" "893" "0" "c.893G>A" "r.(?)" "p.(Arg298His)" "" "0000960916" "00024136" "50" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299His)" "" "0000960917" "00024136" "50" "1235" "0" "1235" "0" "c.1235C>T" "r.(?)" "p.(Thr412Met)" "" "0000960918" "00024136" "50" "1625" "0" "1625" "0" "c.1625T>C" "r.(?)" "p.(Met542Thr)" "" "0000960919" "00024136" "50" "1699" "0" "1699" "0" "c.1699G>A" "r.(?)" "p.(Glu567Lys)" "" "0000960920" "00024136" "10" "1974" "10" "1974" "10" "c.1974+10C>T" "r.(=)" "p.(=)" "" "0000960921" "00024136" "50" "2036" "0" "2036" "0" "c.2036A>G" "r.(?)" "p.(Lys679Arg)" "" "0000973789" "00024136" "10" "536" "18" "536" "18" "c.536+18C>T" "r.(=)" "p.(=)" "" "0000973790" "00024136" "50" "1347" "0" "1347" "0" "c.1347C>A" "r.(?)" "p.(Ser449Arg)" "" "0000973791" "00024136" "50" "1586" "0" "1586" "0" "c.1586A>G" "r.(?)" "p.(Asn529Ser)" "" "0000973792" "00024136" "50" "1788" "0" "1789" "0" "c.1788_1789insTG" "r.(?)" "p.(Asn597*)" "" "0000973793" "00024136" "30" "2601" "0" "2601" "0" "c.2601C>T" "r.(?)" "p.(Pro867=)" "" "0000988699" "00024136" "70" "2520" "0" "2520" "0" "c.2520del" "r.(?)" "p.(Asp841Ilefs*60)" "20" "0000988700" "00024136" "70" "2557" "0" "2569" "0" "c.2557_2569del" "r.(?)" "p.(Glu853Ilefs*44)" "21" "0000989672" "00024136" "50" "1930" "0" "1930" "0" "c.1930G>A" "r.(?)" "p.(Ala644Thr)" "" "0000989673" "00024136" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Cys)" "" "0000990998" "00024136" "90" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Ala119Thr)" "" "0000990999" "00024136" "50" "407" "0" "407" "0" "c.407C>G" "r.(?)" "p.(Thr136Ser)" "" "0000991000" "00024136" "10" "537" "-14" "537" "-14" "c.537-14C>T" "r.(=)" "p.(=)" "" "0000991001" "00024136" "50" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "" "0000991002" "00024136" "50" "2161" "0" "2161" "0" "c.2161C>A" "r.(?)" "p.(Arg721Ser)" "" "0001013289" "00024136" "10" "616" "-6" "616" "-6" "c.616-6A>C" "r.(=)" "p.(=)" "" "0001013290" "00024136" "50" "1333" "0" "1333" "0" "c.1333G>A" "r.(?)" "p.(Glu445Lys)" "" "0001013291" "00024136" "50" "1426" "0" "1426" "0" "c.1426G>T" "r.(?)" "p.(Ala476Ser)" "" "0001013292" "00024136" "50" "1594" "0" "1594" "0" "c.1594A>T" "r.(?)" "p.(Met532Leu)" "" "0001013293" "00024136" "10" "1671" "0" "1671" "0" "c.1671G>A" "r.(?)" "p.(=)" "" "0001013294" "00024136" "50" "1898" "0" "1898" "0" "c.1898A>G" "r.(?)" "p.(His633Arg)" "" "0001013295" "00024136" "30" "2698" "0" "2698" "0" "c.*13G>T" "r.(=)" "p.(=)" "" "0001024128" "00024136" "50" "655" "0" "655" "0" "c.655G>A" "r.(?)" "p.(Ala219Thr)" "" "0001024129" "00024136" "30" "1406" "8" "1406" "8" "c.1406+8C>T" "r.(=)" "p.(=)" "" "0001024130" "00024136" "30" "1975" "-12" "1975" "-12" "c.1975-12C>T" "r.(=)" "p.(=)" "" "0001024131" "00024136" "50" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852Gln)" "" "0001024132" "00024136" "30" "2568" "0" "2568" "0" "c.2568G>A" "r.(?)" "p.(Pro856=)" "" "0001024133" "00024136" "50" "2594" "0" "2594" "0" "c.2594G>C" "r.(?)" "p.(Arg865Thr)" "" "0001031847" "00024136" "50" "643" "0" "643" "0" "c.643G>A" "r.(?)" "p.(Ala215Thr)" "" "0001031848" "00024136" "50" "784" "-461" "784" "-461" "c.784-461G>C" "r.(=)" "p.(=)" "" "0001031849" "00024136" "30" "1484" "0" "1484" "0" "c.1484C>T" "r.(?)" "p.(Thr495Met)" "" "0001031850" "00024136" "30" "1864" "0" "1864" "0" "c.1864G>A" "r.(?)" "p.(Asp622Asn)" "" "0001031851" "00024136" "30" "2555" "0" "2555" "0" "c.2555G>A" "r.(?)" "p.(Arg852Gln)" "" "0001031852" "00024136" "10" "2649" "0" "2649" "0" "c.2649G>A" "r.(?)" "p.(Ala883=)" "" "0001045106" "00024136" "50" "1439" "0" "1439" "0" "c.1439A>G" "r.(?)" "p.(Asn480Ser)" "" "0001045665" "00024136" "30" "2082" "0" "2082" "0" "c.2082G>C" "r.(?)" "p.(Lys694Asn)" "" "0001047029" "00024136" "50" "1256" "-9" "1256" "-9" "c.1256-9C>G" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 274 "{{screeningid}}" "{{variantid}}" "0000016264" "0000036011" "0000065279" "0000096950" "0000073888" "0000117651" "0000104479" "0000169220" "0000129290" "0000218448" "0000129317" "0000218486" "0000129328" "0000218501" "0000164762" "0000368359" "0000227299" "0000464291" "0000266897" "0000597736" "0000266898" "0000597737" "0000266899" "0000597738" "0000266900" "0000597739" "0000266901" "0000597740" "0000290932" "0000647621" "0000290933" "0000647622" "0000296279" "0000652968" "0000296407" "0000653096" "0000296797" "0000653508" "0000296798" "0000653509" "0000296799" "0000653510" "0000296800" "0000653511" "0000296801" "0000653512" "0000297041" "0000653504" "0000297812" "0000701759" "0000297812" "0000701760" "0000317394" "0000700000" "0000317395" "0000700001" "0000317396" "0000700002" "0000317397" "0000700003" "0000317398" "0000700004" "0000317399" "0000700005" "0000317400" "0000700006" "0000318000" "0000700606" "0000318001" "0000700607" "0000318002" "0000700608" "0000318267" "0000700873" "0000318268" "0000700874" "0000318269" "0000700875" "0000318892" "0000701498" "0000318893" "0000701499" "0000318894" "0000701500" "0000318895" "0000701501" "0000318896" "0000701502" "0000321443" "0000704291" "0000321444" "0000704292" "0000321445" "0000704293" "0000373262" "0000783231" "0000373263" "0000783232" "0000406277" "0000842562" "0000414756" "0000872468" "0000414941" "0000872662" "0000414943" "0000872664" "0000414944" "0000872665" "0000414945" "0000872666" "0000414946" "0000872667" "0000414947" "0000872668" "0000414948" "0000872669" "0000414949" "0000872670" "0000414950" "0000872671" "0000414951" "0000872672" "0000414952" "0000872673" "0000414955" "0000872678" "0000414956" "0000872679" "0000414957" "0000872680" "0000414958" "0000872681" "0000414959" "0000872682" "0000414960" "0000872683" "0000414961" "0000872684" "0000414962" "0000872685" "0000414963" "0000872686" "0000414964" "0000872687" "0000414965" "0000872688" "0000414966" "0000872689" "0000414967" "0000872690" "0000414968" "0000872691" "0000414969" "0000872692" "0000414970" "0000872693" "0000414971" "0000872694" "0000414972" "0000872695" "0000414973" "0000872696" "0000414974" "0000872697" "0000415112" "0000872862" "0000415117" "0000872869" "0000415118" "0000872870" "0000415119" "0000872871" "0000415120" "0000872872" "0000415121" "0000872873" "0000415122" "0000872880" "0000415135" "0000872889" "0000415136" "0000872890" "0000415137" "0000872891" "0000415138" "0000872892" "0000415143" "0000872897" "0000415144" "0000872898" "0000415146" "0000872899" "0000415147" "0000872901" "0000415148" "0000872902" "0000415149" "0000872903" "0000415150" "0000872904" "0000415151" "0000872905" "0000415153" "0000872907" "0000415154" "0000872908" "0000415155" "0000872909" "0000415156" "0000872910" "0000415157" "0000872911" "0000415158" "0000872912" "0000415159" "0000872913" "0000415160" "0000872914" "0000415167" "0000872921" "0000415172" "0000872926" "0000415173" "0000872927" "0000415174" "0000872928" "0000415175" "0000872929" "0000415176" "0000872930" "0000415177" "0000872931" "0000415178" "0000872932" "0000415179" "0000872933" "0000415180" "0000872934" "0000415181" "0000872935" "0000415187" "0000872943" "0000415188" "0000872944" "0000415189" "0000872945" "0000415190" "0000872946" "0000415191" "0000872947" "0000415203" "0000872959" "0000415204" "0000872960" "0000415205" "0000872961" "0000415206" "0000872962" "0000415207" "0000872963" "0000415208" "0000872964" "0000415209" "0000872965" "0000415210" "0000872967" "0000415211" "0000872968" "0000415215" "0000872973" "0000415216" "0000872974" "0000415216" "0000872975" "0000415217" "0000872976" "0000415218" "0000872977" "0000415219" "0000872978" "0000415220" "0000872979" "0000415221" "0000872980" "0000415222" "0000872981" "0000415223" "0000872982" "0000415224" "0000872983" "0000415225" "0000872984" "0000415226" "0000872985" "0000415226" "0000873296" "0000415227" "0000872986" 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