### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYL3) # 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}}" "MYL3" "myosin, light chain 3, alkali; ventricular, skeletal, slow" "3" "p" "unknown" "NG_007555.2" "UD_132084429743" "" "https://www.LOVD.nl/MYL3" "" "1" "7584" "4634" "160790" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/MYL3_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-05-01 00:00:00" "00006" "2018-12-27 16:57:14" "00000" "2025-07-08 13:22:38" ## 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}}" "00014150" "MYL3" "myosin, light chain 3, alkali; ventricular, skeletal, slow" "001" "NM_000258.2" "" "NP_000249.1" "" "" "" "-93" "836" "588" "46904973" "46899357" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "02786" "CMH8" "cardiomyopathy, hypertrophic, familial, type 8 (CMH-8)" "AD;AR" "608751" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05098" "RCM" "cardiomyopathy, restrictive (RCM)" "" "" "" "" "" "00006" "2015-10-31 13:09:49" "00006" "2018-12-27 11:15:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYL3" "02786" ## Individuals ## Do not remove or alter this header ## ## Count = 59 "{{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}}" "00016148" "" "" "" "1" "" "00668" "" "" "?" "?" "Netherlands" "" "0" "" "" "white" "" "00064156" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064193" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00210250" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "12707239-?" "00210251" "" "" "" "13" "" "00006" "{PMID:Poetter 1996:8673105}, {OMIM160790:0001}" "large 3-generation family, 13 affecteds" "" "" "" "" "0" "" "" "" "" "00210252" "" "" "" "1" "" "00006" "{PMID:Poetter 1996:8673105}, {OMIM160790:0002}" "" "M" "" "" "" "0" "" "" "" "" "00210253" "" "" "" "2" "" "00006" "{PMID:Andersen 2009:19035361}" "2 affected siblings" "" "" "Denmark" "" "0" "" "" "" "" "00210254" "" "" "" "1" "" "00006" "{PMID:Fokstuen 2008:18409188}" "" "M" "" "" "" "0" "" "" "" "" "00210255" "" "" "" "2" "" "00006" "{PMID:Morita 2006:16754800}" "" "" "" "United States" "" "0" "" "" "" "16754800-s" "00210256" "" "" "" "1" "" "00006" "{PMID:Morita 2008:18403758}" "" "" "" "United States" "" "0" "" "" "" "" "00210257" "" "" "" "12" "" "00006" "{PMID:Lee 2001:11174330}" "3-generation family, 4-affecteds, 8 unaffected carriers" "" "" "Korea" "" "0" "" "" "" "11174330-SM101" "00210258" "" "" "" "3" "" "00006" "{PMID:Olson 2002:12021217}" "5-generation family, 3 affected brothers" "" "yes" "Guatemala" "" "0" "" "" "" "12021217-Famp" "00210259" "" "" "" "2" "" "00006" "{PMID:Lee 2001:11174330}" "2-generation family, affected father and son" "" "" "Korea" "" "0" "" "" "" "11174330-SM325" "00210260" "" "" "" "1" "" "00006" "{PMID:Lee 2001:11174330}" "" "M" "" "Japan" ">54y" "0" "" "" "" "11174330-J0831" "00210261" "" "" "" "4" "" "00006" "{PMID:Olson 2002:12021217}" "5-generation family, 4 unaffected heterozygous carriers" "" "yes" "United States" "" "0" "" "" "" "12021217-Famc" "00210262" "" "" "" "2" "" "00006" "{PMID:Morita 2006:16754800}" "2 subjects, 1 left atrial enlargement" "" "" "United States" "" "0" "" "" "" "16754800-r" "00210263" "" "" "" "1" "" "00006" "{PMID:Morita 2008:18403758}" "" "" "" "United States" "" "0" "" "" "" "" "00210264" "" "" "" "1" "" "00006" "{PMID:Fokstuen 2008:18409188}, {PMID:Fokstuen 2011:18409188}" "" "" "" "" "" "0" "" "" "" "" "00210265" "" "" "" "1" "" "00006" "{PMID:Andersen 2009:19035361}" "" "" "" "" "" "0" "" "" "" "" "00210266" "" "" "" "1" "" "00006" "{PMID:Kaski 2009:20031618}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00210267" "" "" "" "1" "" "00006" "{PMID:Kaski 2009:20031618}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00210268" "" "" "" "1" "" "00006" "{PMID:Garcia-Pavia 2011:21896538}" "5-generation family, 5 affecteds" "F" "" "Spain" "" "0" "" "" "" "21896538-Fam25" "00210269" "" "" "" "1" "" "00006" "{PMID:Caleshu 2011:21823217}" "2-generation family" "F" "" "El Salvador" "" "0" "" "" "" "12021217-FamPat1" "00210270" "" "" "" "1" "" "00006" "{PMID:Fokstuen 2008:18409188}, {PMID:Fokstuen 2011:18409188}" "" "" "" "" "" "0" "" "" "" "" "00210271" "" "" "" "12" "" "00006" "{PMID:Arad 2005:16267253}, {OMIM160790:0001}" "large family, 12 affecteds" "F" "" "" "" "0" "" "" "" "" "00210272" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "Denmark;South Africa" "" "0" "" "" "white" "" "00210273" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "South Africa" "" "0" "" "" "" "" "00210274" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "South Africa" "" "0" "" "" "" "" "00210275" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "white" "" "00210276" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "" "" "00293406" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293407" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00316702" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316703" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316704" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316705" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316706" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316707" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316708" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316709" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316710" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316711" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316712" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316713" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317570" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317571" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317572" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317573" "" "" "" "4" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317574" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317575" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317576" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317577" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317578" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317579" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317580" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317581" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317582" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00320309" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "CQG1" "00453127" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam48Pat86" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 59 "{{individualid}}" "{{diseaseid}}" "00016148" "00351" "00064156" "00351" "00064193" "00351" "00210250" "00351" "00210251" "00351" "00210252" "00351" "00210253" "00351" "00210254" "00351" "00210255" "00198" "00210256" "00351" "00210257" "00351" "00210258" "00351" "00210259" "00351" "00210260" "00351" "00210261" "00000" "00210262" "00000" "00210263" "00351" "00210264" "00351" "00210265" "00351" "00210266" "00351" "00210267" "00351" "00210268" "00351" "00210269" "05098" "00210270" "00351" "00210271" "00351" "00210272" "00351" "00210273" "00351" "00210274" "00351" "00210275" "00351" "00210276" "00351" "00293406" "00198" "00293407" "00198" "00316702" "04172" "00316703" "04172" "00316704" "04172" "00316705" "04172" "00316706" "04172" "00316707" "04172" "00316708" "04172" "00316709" "04172" "00316710" "04172" "00316711" "04172" "00316712" "04172" "00316713" "04172" "00317570" "04172" "00317571" "04172" "00317572" "04172" "00317573" "04172" "00317574" "04172" "00317575" "04172" "00317576" "04172" "00317577" "04172" "00317578" "04172" "00317579" "04172" "00317580" "04172" "00317581" "04172" "00317582" "04172" "00320309" "04172" "00453127" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 02786, 04172, 05098 ## Count = 57 "{{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}}" "0000014933" "00351" "00016148" "00668" "Unknown" "" "originally diagnosed with hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000050672" "00351" "00064156" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050709" "00351" "00064193" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158816" "00351" "00210250" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158817" "00351" "00210251" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158818" "00351" "00210252" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158819" "00351" "00210253" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158820" "00351" "00210254" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158821" "00198" "00210255" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "increased left ventricular wall thickness" "" "0000158822" "00351" "00210256" "00006" "Unknown" "" "childhood onset" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158823" "00351" "00210257" "00006" "Unknown" "" "classic asymmetric septal hypertrophy, widely varying expressivity" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158824" "00351" "00210258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158825" "00351" "00210259" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158826" "00351" "00210260" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158827" "00000" "00210261" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158828" "00000" "00210262" "00006" "Unknown" "" "no increased left ventricular wall thickness" "" "" "" "" "" "" "" "" "" "" "" "0000158829" "00351" "00210263" "00006" "Unknown" "" "childhood onset" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158830" "00351" "00210264" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158831" "00351" "00210265" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158832" "00351" "00210266" "00006" "Unknown" "" "childhood (<13y) onset" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158833" "00351" "00210267" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158834" "00351" "00210268" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158835" "05098" "00210269" "00006" "Familial, autosomal recessive" "" "carrier mother MYL2:G57E and MYL3:E143K" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000158836" "00351" "00210270" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158837" "00351" "00210271" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158838" "00351" "00210272" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158839" "00351" "00210273" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158840" "00351" "00210274" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158841" "00351" "00210275" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158842" "00351" "00210276" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240448" "04172" "00316702" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240449" "04172" "00316703" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240450" "04172" "00316704" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240451" "04172" "00316705" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240452" "04172" "00316706" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240453" "04172" "00316707" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240454" "04172" "00316708" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240455" "04172" "00316709" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240456" "04172" "00316710" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240457" "04172" "00316711" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240458" "04172" "00316712" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240459" "04172" "00316713" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241316" "04172" "00317570" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241317" "04172" "00317571" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241318" "04172" "00317572" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241319" "04172" "00317573" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241320" "04172" "00317574" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241321" "04172" "00317575" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241322" "04172" "00317576" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241323" "04172" "00317577" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241324" "04172" "00317578" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241325" "04172" "00317579" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241326" "04172" "00317580" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241327" "04172" "00317581" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241328" "04172" "00317582" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000242337" "04172" "00320309" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000341773" "04172" "00453127" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016270" "00016148" "1" "00668" "00006" "2014-03-14 12:29:13" "" "" "SEQ;SEQ-NG" "DNA" "leukocyte" "" "0000064289" "00064156" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064326" "00064193" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000211326" "00210250" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211327" "00210251" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211328" "00210252" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211329" "00210253" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-27 18:48:45" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211330" "00210254" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "arraySEQ;SEQ" "DNA" "" "" "0000211331" "00210255" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211332" "00210256" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211333" "00210257" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211334" "00210258" "1" "00006" "00006" "2010-07-23 17:26:40" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211335" "00210259" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "SEQ" "DNA" "" "" "0000211336" "00210260" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "SEQ" "DNA" "" "" "0000211337" "00210261" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "SEQ" "DNA" "" "" "0000211338" "00210262" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "SEQ" "DNA" "" "" "0000211339" "00210263" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211340" "00210264" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "arraySEQ;SEQ" "DNA" "" "" "0000211341" "00210265" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "SEQ" "DNA" "" "" "0000211342" "00210266" "1" "00006" "00006" "2012-03-18 21:48:19" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000211343" "00210267" "1" "00006" "00006" "2012-03-18 21:48:19" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" "" "0000211344" "00210268" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "SEQ" "DNA" "" "" "0000211345" "00210269" "1" "00006" "00006" "2012-03-18 21:48:19" "00006" "2012-03-26 16:00:39" "SEQ" "DNA" "" "" "0000211346" "00210270" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "arraySEQ;SEQ" "DNA" "" "" "0000211347" "00210271" "1" "00006" "00006" "2012-03-18 21:48:19" "" "" "SEQ" "DNA" "" "" "0000211348" "00210272" "1" "00006" "00006" "2012-03-26 16:51:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211349" "00210273" "1" "00006" "00006" "2012-03-26 16:51:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211350" "00210274" "1" "00006" "00006" "2012-03-26 16:51:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211351" "00210275" "1" "00006" "00006" "2012-03-26 16:51:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211352" "00210276" "1" "00006" "00006" "2012-03-26 16:51:44" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000294574" "00293406" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294575" "00293407" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000317884" "00316702" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317885" "00316703" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317886" "00316704" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317887" "00316705" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317888" "00316706" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317889" "00316707" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317890" "00316708" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317891" "00316709" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317892" "00316710" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317893" "00316711" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317894" "00316712" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317895" "00316713" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318752" "00317570" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318753" "00317571" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318754" "00317572" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318755" "00317573" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318756" "00317574" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318757" "00317575" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318758" "00317576" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318759" "00317577" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318760" "00317578" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318761" "00317579" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318762" "00317580" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318763" "00317581" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318764" "00317582" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000321495" "00320309" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454738" "00453127" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{geneid}}" "0000016270" "GLA" "0000016270" "MYBPC3" "0000016270" "MYL3" "0000016270" "TTN" "0000064289" "TTN" "0000064326" "TTN" "0000211326" "MYL3" "0000211327" "MYL3" "0000211328" "MYL3" "0000211329" "MYL3" "0000211330" "MYL3" "0000211331" "MYL3" "0000211332" "MYL3" "0000211333" "MYL3" "0000211334" "MYL3" "0000211335" "MYL3" "0000211336" "MYL3" "0000211337" "MYL3" "0000211338" "MYL3" "0000211339" "MYL3" "0000211340" "MYL3" "0000211341" "MYL3" "0000211342" "MYL3" "0000211343" "MYL3" "0000211344" "MYL3" "0000211345" "MYL3" "0000211346" "MYL3" "0000211347" "MYL3" "0000211348" "MYL3" "0000211349" "MYL3" "0000211350" "MYL3" "0000211351" "MYL3" "0000211352" "MYL3" "0000317884" "MYL3" "0000317885" "MYL3" "0000317886" "MYL3" "0000317887" "MYL3" "0000317888" "MYL3" "0000317889" "MYL3" "0000317890" "MYL3" "0000317891" "MYL3" "0000317892" "MYL3" "0000317893" "MYL3" "0000317894" "MYL3" "0000317895" "MYL3" "0000318752" "MYL3" "0000318753" "MYL3" "0000318754" "MYL3" "0000318755" "MYL3" "0000318756" "MYL3" "0000318757" "MYL3" "0000318758" "MYL3" "0000318759" "MYL3" "0000318760" "MYL3" "0000318761" "MYL3" "0000318762" "MYL3" "0000318763" "MYL3" "0000318764" "MYL3" "0000321495" "ELAC2" "0000321495" "MYL3" ## 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 = 191 "{{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}}" "0000036028" "1" "55" "3" "46900970" "46900970" "subst" "2.84435E-5" "00668" "MYL3_000021" "g.46900970G>A" "" "Vrijenhoek, submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.46859480G>A" "" "VUS" "" "0000095512" "0" "50" "3" "46900986" "46900986" "subst" "1.21849E-5" "00006" "MYL3_000020" "g.46900986G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000258:c.C460T" "" "Germline" "" "" "0" "" "" "g.46859496G>A" "" "VUS" "" "0000095638" "0" "50" "3" "46900970" "46900970" "subst" "2.84435E-5" "00006" "MYL3_000021" "g.46900970G>A" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000258:c.C476T" "" "Germline" "" "" "0" "" "" "g.46859480G>A" "" "VUS" "" "0000254206" "0" "30" "3" "46904800" "46904800" "subst" "0.000362883" "01943" "MYL3_000033" "g.46904800A>G" "" "" "" "MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863310A>G" "" "likely benign" "" "0000292783" "0" "10" "3" "46904893" "46904893" "subst" "0" "02330" "MYL3_000038" "g.46904893G>A" "" "" "" "MYL3(NM_000258.3):c.-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863403G>A" "" "benign" "" "0000292785" "0" "50" "3" "46902253" "46902253" "subst" "7.30929E-5" "02330" "MYL3_000049" "g.46902253C>T" "" "" "" "MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46860763C>T" "" "VUS" "" "0000292786" "0" "10" "3" "46902251" "46902251" "subst" "2.43637E-5" "02330" "MYL3_000048" "g.46902251C>T" "" "" "" "MYL3(NM_000258.3):c.222G>A (p.G74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46860761C>T" "" "benign" "" "0000292787" "0" "50" "3" "46902238" "46902238" "subst" "2.43639E-5" "02330" "MYL3_000047" "g.46902238C>T" "" "" "" "MYL3(NM_000258.3):c.235G>A (p.V79I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46860748C>T" "" "VUS" "" "0000292789" "0" "10" "3" "46902206" "46902206" "subst" "0" "02330" "MYL3_000045" "g.46902206C>T" "" "" "" "MYL3(NM_000258.3):c.267G>A (p.Q89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46860716C>T" "" "benign" "" "0000292791" "0" "50" "3" "46901019" "46901019" "subst" "8.12117E-6" "02330" "MYL3_000009" "g.46901019C>T" "" "" "" "MYL3(NM_000258.3):c.427G>A (p.E143K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46859529C>T" "" "VUS" "" "0000292792" "0" "50" "3" "46901007" "46901007" "subst" "4.06075E-6" "02330" "MYL3_000040" "g.46901007T>C" "" "" "" "MYL3(NM_000258.3):c.439A>G (p.T147A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46859517T>C" "" "VUS" "" "0000292794" "0" "10" "3" "46899968" "46899968" "subst" "0.000189694" "02330" "MYL3_000025" "g.46899968G>A" "" "" "" "MYL3(NM_000258.2):c.482-17C>T, MYL3(NM_000258.3):c.482-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46858478G>A" "" "benign" "" "0000292795" "0" "50" "3" "46904877" "46904877" "subst" "4.48098E-5" "02330" "MYL3_000037" "g.46904877C>G" "" "" "" "MYL3(NM_000258.2):c.4G>C (p.A2P), MYL3(NM_000258.3):c.4G>C (p.A2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863387C>G" "" "VUS" "" "0000292796" "0" "10" "3" "46899868" "46899868" "subst" "0.000182835" "02330" "MYL3_000010" "g.46899868G>A" "" "" "" "MYL3(NM_000258.3):c.559+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46858378G>A" "" "benign" "" "0000292797" "0" "10" "3" "46904812" "46904812" "subst" "0.0199632" "02330" "MYL3_000014" "g.46904812G>A" "" "" "" "MYL3(NM_000258.2):c.69C>T (p.P23=), MYL3(NM_000258.3):c.69C>T (p.P23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863322G>A" "" "benign" "" "0000296191" "0" "30" "3" "46899969" "46899969" "subst" "0" "02325" "MYL3_000026" "g.46899969C>T" "" "" "" "MYL3(NM_000258.2):c.482-18G>A, MYL3(NM_000258.3):c.482-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46858479C>T" "" "likely benign" "" "0000296192" "0" "70" "3" "46899916" "46899916" "subst" "4.06666E-6" "02325" "MYL3_000007" "g.46899916T>C" "" "" "" "MYL3(NM_000258.3):c.517A>G (p.M173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46858426T>C" "" "likely pathogenic" "" "0000299756" "0" "30" "3" "46904907" "46904907" "subst" "0.000217105" "02326" "MYL3_000039" "g.46904907G>A" "" "" "" "MYL3(NM_000258.2):c.-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863417G>A" "" "likely benign" "" "0000299757" "0" "50" "3" "46902253" "46902253" "subst" "7.30929E-5" "02326" "MYL3_000049" "g.46902253C>T" "" "" "" "MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46860763C>T" "" "VUS" "" "0000299758" "0" "50" "3" "46901025" "46901025" "subst" "4.06072E-6" "02326" "MYL3_000042" "g.46901025C>T" "" "" "" "MYL3(NM_000258.2):c.421G>A (p.D141N), MYL3(NM_000258.3):c.421G>A (p.D141N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46859535C>T" "" "VUS" "" "0000299759" "0" "50" "3" "46900985" "46900985" "subst" "2.4371E-5" "02326" "MYL3_000003" "g.46900985C>T" "" "" "" "MYL3(NM_000258.2):c.461G>A (p.R154H), MYL3(NM_000258.3):c.461G>A (p.R154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46859495C>T" "" "VUS" "" "0000302545" "0" "50" "3" "46899726" "46899726" "subst" "1.2183E-5" "01943" "MYL3_000022" "g.46899726C>T" "" "" "" "MYL3(NM_000258.2):c.*8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46858236C>T" "" "VUS" "" "0000302546" "0" "50" "3" "46904871" "46904871" "subst" "0" "01943" "MYL3_000036" "g.46904871T>G" "" "" "" "MYL3(NM_000258.2):c.10A>C (p.K4Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863381T>G" "" "VUS" "" "0000302547" "0" "10" "3" "46904697" "46904698" "del" "0" "01943" "MYL3_000031" "g.46904697_46904698del" "" "" "" "MYL3(NM_000258.2):c.129+54_129+55delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863207_46863208del" "" "benign" "" "0000302548" "0" "50" "3" "46901035" "46901035" "subst" "0.000133998" "01943" "MYL3_000043" "g.46901035C>A" "" "" "" "MYL3(NM_000258.2):c.411G>T (p.L137=), MYL3(NM_000258.3):c.411G>T (p.L137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46859545C>A" "" "VUS" "" "0000302549" "0" "70" "3" "46900983" "46900983" "subst" "0" "01943" "MYL3_000028" "g.46900983G>A" "" "" "" "MYL3(NM_000258.2):c.463C>T (p.H155Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46859493G>A" "" "likely pathogenic" "" "0000302550" "0" "50" "3" "46904877" "46904877" "subst" "4.48098E-5" "01943" "MYL3_000037" "g.46904877C>G" "" "" "" "MYL3(NM_000258.2):c.4G>C (p.A2P), MYL3(NM_000258.3):c.4G>C (p.A2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863387C>G" "" "VUS" "" "0000302551" "0" "10" "3" "46904812" "46904812" "subst" "0.0199632" "01943" "MYL3_000014" "g.46904812G>A" "" "" "" "MYL3(NM_000258.2):c.69C>T (p.P23=), MYL3(NM_000258.3):c.69C>T (p.P23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46863322G>A" "" "benign" "" "0000442810" "1" "90" "3" "46902306" "46902306" "subst" "0" "00006" "MYL3_000001" "g.46902306T>C" "" "{PMID:Richard 2003:12707239}" "" "E56G" "net charge substitution -1 to 0" "Germline" "" "" "0" "" "" "g.46860816T>C" "" "pathogenic" "" "0000442811" "1" "90" "3" "46901001" "46901001" "subst" "0" "00006" "MYL3_000002" "g.46901001T>C" "" "{PMID:Poetter 1996:08673105}, {OMIM160790:0001}" "NlaIII-" "" "not in 378 control/762 CMH chromosomes" "Germline" "" "" "0" "" "" "g.46859511T>C" "" "pathogenic" "" "0000442812" "1" "90" "3" "46900985" "46900985" "subst" "2.4371E-5" "00006" "MYL3_000003" "g.46900985C>T" "" "{PMID:Poetter 1996:08673105}, {OMIM160790:0002}" "" "" "not in 378 control/762 CMH chromosomes" "Germline" "" "" "0" "" "" "g.46859495C>T" "" "pathogenic" "" "0000442813" "1" "90" "3" "46899953" "46899953" "subst" "0" "00006" "MYL3_000004" "g.46899953T>C" "" "{PMID:Andersen 2009:19035361}" "" "" "" "Germline" "" "" "0" "" "" "g.46858463T>C" "" "pathogenic" "" "0000442814" "1" "90" "3" "46902192" "46902192" "subst" "8.12565E-6" "00006" "MYL3_000005" "g.46902192C>T" "" "{PMID:Fokstuen 2008:18409188}" "" "" "not in 192 control chromosomes" "Germline" "" "" "0" "" "" "g.46860702C>T" "" "pathogenic" "" "0000442815" "1" "90" "3" "46900980" "46900980" "subst" "1.62488E-5" "00006" "MYL3_000006" "g.46900980C>T" "2/50 patients" "{PMID:Morita 2006:16754800}" "" "G>A (Val156Met)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.46859490C>T" "" "pathogenic" "" "0000442816" "1" "90" "3" "46899916" "46899916" "subst" "4.06666E-6" "00006" "MYL3_000007" "g.46899916T>C" "" "{PMID:Morita 2008:18403758}" "" "Met173Val" "not in >1000 control chromosomes" "Germline" "" "" "0" "" "" "g.46858426T>C" "" "pathogenic" "" "0000442817" "1" "70" "3" "46902303" "46902303" "subst" "7.30964E-5" "00006" "MYL3_000008" "g.46902303G>C" "" "{PMID:Lee 2001:11174330}" "" "" "not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.46860813G>C" "" "likely pathogenic" "" "0000442818" "3" "90" "3" "46901019" "46901019" "subst" "8.12117E-6" "00006" "MYL3_000009" "g.46901019C>T" "" "{PMID:Olson 2002:12021217}, {OMIM160790:0003}" "" "G>A (Glu143Lys)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.46859529C>T" "" "pathogenic" "" "0000442819" "1" "70" "3" "46902303" "46902303" "subst" "7.30964E-5" "00006" "MYL3_000008" "g.46902303G>C" "" "{PMID:Lee 2001:11174330}" "" "" "not in 500 control chromosomes" "Germline" "" "" "0" "" "" "g.46860813G>C" "" "likely pathogenic" "" "0000442820" "1" "70" "3" "46902303" "46902303" "subst" "7.30964E-5" "00006" "MYL3_000008" "g.46902303G>C" "" "{PMID:Lee 2001:11174330}" "" "" "" "Unknown" "" "" "0" "" "" "g.46860813G>C" "" "likely pathogenic" "" "0000442821" "1" "90" "3" "46901019" "46901019" "subst" "8.12117E-6" "00006" "MYL3_000009" "g.46901019C>T" "" "{PMID:Olson 2002:12021217}" "" "G>A (Glu143Lys)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.46859529C>T" "" "pathogenic" "" "0000442822" "1" "90" "3" "46900980" "46900980" "subst" "1.62488E-5" "00006" "MYL3_000006" "g.46900980C>T" "2/4068" "{PMID:Morita 2006:16754800}" "" "G>A (Val156Met)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.46859490C>T" "" "pathogenic" "" "0000442823" "1" "30" "3" "46899868" "46899868" "subst" "0.000182835" "00006" "MYL3_000010" "g.46899868G>A" "" "{PMID:Morita 2008:18403758}" "" "IVS5+6C>T" "" "Germline" "" "" "0" "" "" "g.46858378G>A" "" "likely benign" "" "0000442824" "1" "90" "3" "46902231" "46902231" "subst" "0" "00006" "MYL3_000018" "g.46902231C>T" "" "{PMID:Fokstuen 2008:18409188}, {PMID:Fokstuen 2011:18409188}" "" "Arg81His" "not in 192 control chromosomes" "Germline" "" "" "0" "" "" "g.46860741C>T" "" "pathogenic" "" "0000442825" "1" "50" "3" "46899578" "46899578" "subst" "0" "00006" "MYL3_000004" "g.46899578C>T" "" "{PMID:Andersen 2009:19035361}" "" "*+27G>A" "potentially affecting mRNA stability" "Germline" "" "" "0" "" "" "g.46858088C>T" "" "VUS" "" "0000442826" "1" "90" "3" "46900992" "46900992" "subst" "0" "00006" "MYL3_000011" "g.46900992C>T" "" "{PMID:Kaski 2009:20031618}" "" "4940G>A" "" "Germline" "" "" "0" "" "" "g.46859502C>T" "" "pathogenic" "" "0000442827" "1" "90" "3" "46900983" "46900983" "subst" "0" "00006" "MYL3_000012" "g.46900983G>C" "" "{PMID:Kaski 2009:20031618}" "" "4949C>G" "" "Germline" "" "" "0" "" "" "g.46859493G>C" "" "pathogenic" "" "0000442828" "1" "90" "3" "46901064" "46901064" "subst" "0" "00006" "MYL3_000013" "g.46901064C>A" "" "{PMID:Garcia-Pavia 2011:21896538}" "" "" "" "Germline" "" "" "0" "" "" "g.46859574C>A" "" "pathogenic" "" "0000442829" "21" "90" "3" "46901019" "46901019" "subst" "8.12117E-6" "00006" "MYL3_000009" "g.46901019C>T" "" "{PMID:Caleshu 2011:21823217}, {OMIM160790:0003}" "" "G>A (Glu143Lys)" "not in 380 control chromosomes" "Germline" "" "" "0" "" "" "g.46859529C>T" "" "pathogenic" "" "0000442830" "10" "90" "3" "46901019" "46901019" "subst" "8.12117E-6" "00006" "MYL3_000009" "g.46901019C>T" "" "{PMID:Caleshu 2011:21823217}, {OMIM160790:0003}" "" "G>A (Glu143Lys)" "not in 380 control chromosomes" "Germline" "" "" "0" "" "" "g.46859529C>T" "" "pathogenic" "" "0000442831" "1" "90" "3" "46902303" "46902303" "subst" "0.000166497" "00006" "MYL3_000019" "g.46902303G>T" "" "{PMID:Fokstuen 2008:18409188}, {PMID:Fokstuen 2011:18409188}" "" "" "not in 192 control chromosomes" "Unknown" "" "" "0" "" "" "g.46860813G>T" "" "pathogenic" "" "0000442832" "1" "90" "3" "46901001" "46901001" "subst" "0" "00006" "MYL3_000002" "g.46901001T>C" "" "{PMID:Arad 2005:16267253}, {OMIM160790:0001}" "NlaIII-" "" "not in >200 control chromosomes" "Germline" "" "" "0" "" "" "g.46859511T>C" "" "pathogenic" "" "0000442833" "0" "30" "3" "46904812" "46904812" "subst" "0.0199632" "00006" "MYL3_000014" "g.46904812G>A" "" "{PMID:Andersen 2001:11748309}" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.46863322G>A" "" "likely benign" "" "0000442834" "0" "30" "3" "46902212" "46902212" "subst" "0.000231502" "00006" "MYL3_000015" "g.46902212G>A" "" "{PMID:Andersen 2001:11748309}" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.46860722G>A" "" "likely benign" "" "0000442835" "0" "30" "3" "46901047" "46901047" "subst" "8.1211E-6" "00006" "MYL3_000016" "g.46901047G>A" "" "{PMID:Andersen 2001:11748309}" "" "" "present in controls" "Germline" "" "" "0" "" "" "g.46859557G>A" "" "likely benign" "" "0000442836" "0" "10" "3" "46904812" "46904812" "subst" "0.0199632" "00006" "MYL3_000014" "g.46904812G>A" "" "{PMID:Kabaeva 2002:12404107}" "" "Pro23Pro" "present in controls" "Germline" "" "" "0" "" "" "g.46863322G>A" "" "benign" "" "0000442837" "0" "10" "3" "46901026" "46901026" "subst" "4.46671E-5" "00006" "MYL3_000017" "g.46901026G>A" "" "{PMID:Kabaeva 2002:12404107}" "" "Phe140Phe" "present in controls" "Germline" "" "" "0" "" "" "g.46859536G>A" "" "benign" "" "0000519923" "0" "10" "3" "46899387" "46899387" "subst" "0" "02327" "MYL3_000050" "g.46899387T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46857897T>C" "" "benign" "" "0000519924" "0" "10" "3" "46899516" "46899516" "subst" "0" "02327" "MYL3_000051" "g.46899516C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858026C>T" "" "benign" "" "0000519925" "0" "50" "3" "46899538" "46899538" "subst" "0" "02327" "MYL3_000052" "g.46899538G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858048G>A" "" "VUS" "" "0000519926" "0" "30" "3" "46899604" "46899604" "subst" "0" "02327" "MYL3_000053" "g.46899604G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858114G>C" "" "likely benign" "" "0000519928" "0" "50" "3" "46899903" "46899903" "subst" "6.09761E-5" "02327" "MYL3_000055" "g.46899903T>C" "" "" "" "MYL3(NM_000258.2):c.530A>G (p.E177G), MYL3(NM_000258.3):c.530A>G (p.E177G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858413T>C" "" "VUS" "" "0000519929" "0" "70" "3" "46899915" "46899915" "subst" "0" "02327" "MYL3_000056" "g.46899915A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858425A>G" "" "likely pathogenic" "" "0000519930" "0" "50" "3" "46899916" "46899916" "subst" "4.06666E-6" "02327" "MYL3_000007" "g.46899916T>C" "" "" "" "MYL3(NM_000258.3):c.517A>G (p.M173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858426T>C" "" "VUS" "" "0000519931" "0" "30" "3" "46899968" "46899968" "subst" "0.000189694" "02326" "MYL3_000025" "g.46899968G>A" "" "" "" "MYL3(NM_000258.2):c.482-17C>T, MYL3(NM_000258.3):c.482-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858478G>A" "" "likely benign" "" "0000519932" "0" "30" "3" "46899969" "46899969" "subst" "0" "02327" "MYL3_000026" "g.46899969C>T" "" "" "" "MYL3(NM_000258.2):c.482-18G>A, MYL3(NM_000258.3):c.482-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858479C>T" "" "likely benign" "" "0000519933" "0" "30" "3" "46899977" "46899977" "subst" "1.24483E-5" "02327" "MYL3_000057" "g.46899977G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858487G>A" "" "likely benign" "" "0000519934" "0" "10" "3" "46900051" "46900051" "subst" "0" "02327" "MYL3_000058" "g.46900051G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858561G>A" "" "benign" "" "0000519935" "0" "10" "3" "46900857" "46900857" "subst" "0" "02327" "MYL3_000059" "g.46900857G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859367G>A" "" "benign" "" "0000519936" "0" "50" "3" "46900970" "46900970" "subst" "2.84435E-5" "02327" "MYL3_000021" "g.46900970G>A" "" "" "" "MYL3(NM_000258.3):c.476C>T (p.T159M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859480G>A" "" "VUS" "" "0000519937" "0" "50" "3" "46900980" "46900980" "subst" "1.62488E-5" "01943" "MYL3_000006" "g.46900980C>T" "" "" "" "MYL3(NM_000258.2):c.466G>A (p.V156M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859490C>T" "" "VUS" "" "0000519938" "0" "70" "3" "46900985" "46900985" "subst" "2.4371E-5" "01943" "MYL3_000003" "g.46900985C>T" "" "" "" "MYL3(NM_000258.2):c.461G>A (p.R154H), MYL3(NM_000258.3):c.461G>A (p.R154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859495C>T" "" "likely pathogenic" "" "0000519939" "0" "70" "3" "46900985" "46900985" "subst" "2.4371E-5" "02327" "MYL3_000003" "g.46900985C>T" "" "" "" "MYL3(NM_000258.2):c.461G>A (p.R154H), MYL3(NM_000258.3):c.461G>A (p.R154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859495C>T" "" "likely pathogenic" "" "0000519940" "0" "50" "3" "46900994" "46900994" "subst" "0" "02330" "MYL3_000060" "g.46900994G>A" "" "" "" "MYL3(NM_000258.2):c.452C>T (p.A151V), MYL3(NM_000258.3):c.452C>T (p.A151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859504G>A" "" "VUS" "" "0000519941" "0" "90" "3" "46900994" "46900994" "subst" "0" "01943" "MYL3_000060" "g.46900994G>A" "" "" "" "MYL3(NM_000258.2):c.452C>T (p.A151V), MYL3(NM_000258.3):c.452C>T (p.A151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859504G>A" "" "pathogenic" "" "0000519942" "0" "90" "3" "46900994" "46900994" "subst" "0" "02327" "MYL3_000060" "g.46900994G>A" "" "" "" "MYL3(NM_000258.2):c.452C>T (p.A151V), MYL3(NM_000258.3):c.452C>T (p.A151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859504G>A" "" "pathogenic" "" "0000519943" "0" "90" "3" "46900994" "46900994" "subst" "0" "02325" "MYL3_000060" "g.46900994G>A" "" "" "" "MYL3(NM_000258.2):c.452C>T (p.A151V), MYL3(NM_000258.3):c.452C>T (p.A151V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859504G>A" "" "pathogenic" "" "0000519944" "0" "10" "3" "46901047" "46901047" "subst" "8.1211E-6" "02330" "MYL3_000016" "g.46901047G>A" "" "" "" "MYL3(NM_000258.3):c.399C>T (p.F133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859557G>A" "" "benign" "" "0000519945" "0" "10" "3" "46902129" "46902129" "subst" "0.251739" "02327" "MYL3_000061" "g.46902129T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860639T>G" "" "benign" "" "0000519946" "0" "10" "3" "46902150" "46902150" "subst" "0.000155233" "02330" "MYL3_000062" "g.46902150C>T" "" "" "" "MYL3(NM_000258.3):c.307+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860660C>T" "" "benign" "" "0000519947" "0" "10" "3" "46902151" "46902151" "subst" "0.000314455" "02330" "MYL3_000063" "g.46902151G>A" "" "" "" "MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860661G>A" "" "benign" "" "0000519948" "0" "30" "3" "46902151" "46902151" "subst" "0.000314455" "01943" "MYL3_000063" "g.46902151G>A" "" "" "" "MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860661G>A" "" "likely benign" "" "0000519949" "0" "30" "3" "46902151" "46902151" "subst" "0.000314455" "02327" "MYL3_000063" "g.46902151G>A" "" "" "" "MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860661G>A" "" "likely benign" "" "0000519950" "0" "30" "3" "46902151" "46902151" "subst" "0.000314455" "02325" "MYL3_000063" "g.46902151G>A" "" "" "" "MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860661G>A" "" "likely benign" "" "0000519951" "0" "30" "3" "46902151" "46902151" "subst" "0.000314455" "02326" "MYL3_000063" "g.46902151G>A" "" "" "" "MYL3(NM_000258.2):c.307+15C>T, MYL3(NM_000258.3):c.307+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860661G>A" "" "likely benign" "" "0000519952" "0" "30" "3" "46902226" "46902226" "subst" "8.12236E-6" "01943" "MYL3_000064" "g.46902226G>A" "" "" "" "MYL3(NM_000258.2):c.247C>T (p.L83=), MYL3(NM_000258.3):c.247C>T (p.L83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860736G>A" "" "likely benign" "" "0000519953" "0" "30" "3" "46902226" "46902226" "subst" "8.12236E-6" "02327" "MYL3_000064" "g.46902226G>A" "" "" "" "MYL3(NM_000258.2):c.247C>T (p.L83=), MYL3(NM_000258.3):c.247C>T (p.L83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860736G>A" "" "likely benign" "" "0000519954" "0" "50" "3" "46902286" "46902286" "subst" "1.62437E-5" "02330" "MYL3_000065" "g.46902286G>A" "" "" "" "MYL3(NM_000258.2):c.187C>T (p.R63C), MYL3(NM_000258.3):c.187C>T (p.R63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860796G>A" "" "VUS" "" "0000519955" "0" "50" "3" "46902286" "46902286" "subst" "1.62437E-5" "01943" "MYL3_000065" "g.46902286G>A" "" "" "" "MYL3(NM_000258.2):c.187C>T (p.R63C), MYL3(NM_000258.3):c.187C>T (p.R63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860796G>A" "" "VUS" "" "0000519957" "0" "50" "3" "46902286" "46902286" "subst" "1.62437E-5" "02326" "MYL3_000065" "g.46902286G>A" "" "" "" "MYL3(NM_000258.2):c.187C>T (p.R63C), MYL3(NM_000258.3):c.187C>T (p.R63C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860796G>A" "" "VUS" "" "0000519958" "0" "90" "3" "46902303" "46902303" "subst" "0.000166497" "02330" "MYL3_000019" "g.46902303G>T" "" "" "" "MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860813G>T" "" "pathogenic" "" "0000519959" "0" "50" "3" "46902303" "46902303" "subst" "0.000166497" "01943" "MYL3_000019" "g.46902303G>T" "" "" "" "MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860813G>T" "" "VUS" "" "0000519960" "0" "50" "3" "46902303" "46902303" "subst" "0.000166497" "02327" "MYL3_000019" "g.46902303G>T" "" "" "" "MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860813G>T" "" "VUS" "" "0000519961" "0" "50" "3" "46902303" "46902303" "subst" "0.000166497" "02326" "MYL3_000019" "g.46902303G>T" "" "" "" "MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860813G>T" "" "VUS" "" "0000519962" "0" "10" "3" "46902320" "46902320" "del" "0" "02330" "MYL3_000066" "g.46902320del" "" "" "" "MYL3(NM_000258.3):c.158-4delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860830del" "" "benign" "" "0000519963" "0" "10" "3" "46902491" "46902491" "subst" "0.00163536" "02330" "MYL3_000067" "g.46902491C>A" "" "" "" "MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46861001C>A" "" "benign" "" "0000519964" "0" "10" "3" "46902491" "46902491" "subst" "0.00163536" "01943" "MYL3_000067" "g.46902491C>A" "" "" "" "MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46861001C>A" "" "benign" "" "0000519965" "0" "30" "3" "46902491" "46902491" "subst" "0.00163536" "02327" "MYL3_000067" "g.46902491C>A" "" "" "" "MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46861001C>A" "" "likely benign" "" "0000519966" "0" "30" "3" "46902491" "46902491" "subst" "0.00163536" "02325" "MYL3_000067" "g.46902491C>A" "" "" "" "MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46861001C>A" "" "likely benign" "" "0000519967" "0" "10" "3" "46902491" "46902491" "subst" "0.00163536" "02326" "MYL3_000067" "g.46902491C>A" "" "" "" "MYL3(NM_000258.2):c.130-14G>T, MYL3(NM_000258.3):c.130-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46861001C>A" "" "benign" "" "0000519968" "0" "30" "3" "46904697" "46904698" "del" "0" "02327" "MYL3_000031" "g.46904697_46904698del" "" "" "" "MYL3(NM_000258.2):c.129+54_129+55delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863207_46863208del" "" "likely benign" "" "0000519969" "0" "10" "3" "46904708" "46904708" "subst" "0.206518" "02327" "MYL3_000068" "g.46904708C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863218C>A" "" "benign" "" "0000519970" "0" "50" "3" "46904789" "46904789" "subst" "8.1602E-5" "02330" "MYL3_000069" "g.46904789C>T" "" "" "" "MYL3(NM_000258.3):c.92G>A (p.R31H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863299C>T" "" "VUS" "" "0000519971" "0" "10" "3" "46904812" "46904812" "subst" "0.0199632" "02327" "MYL3_000014" "g.46904812G>A" "" "" "" "MYL3(NM_000258.2):c.69C>T (p.P23=), MYL3(NM_000258.3):c.69C>T (p.P23=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863322G>A" "" "benign" "" "0000519972" "0" "50" "3" "46904827" "46904827" "subst" "8.13815E-6" "02327" "MYL3_000070" "g.46904827C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863337C>G" "" "VUS" "" "0000519973" "0" "50" "3" "46904871" "46904871" "subst" "0" "02327" "MYL3_000036" "g.46904871T>G" "" "" "" "MYL3(NM_000258.2):c.10A>C (p.K4Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863381T>G" "" "VUS" "" "0000608733" "0" "30" "3" "46899905" "46899905" "subst" "0" "02327" "MYL3_000072" "g.46899905T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858415T>C" "" "likely benign" "" "0000608734" "0" "30" "3" "46900969" "46900969" "subst" "3.25124E-5" "02327" "MYL3_000073" "g.46900969C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859479C>T" "" "likely benign" "" "0000608735" "0" "50" "3" "46900970" "46900970" "subst" "2.84435E-5" "02330" "MYL3_000021" "g.46900970G>A" "" "" "" "MYL3(NM_000258.3):c.476C>T (p.T159M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859480G>A" "" "VUS" "" "0000608736" "0" "70" "3" "46901033" "46901033" "subst" "4.06072E-6" "02327" "MYL3_000074" "g.46901033C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46859543C>T" "" "likely pathogenic" "" "0000608737" "0" "30" "3" "46902320" "46902320" "del" "0" "02327" "MYL3_000066" "g.46902320del" "" "" "" "MYL3(NM_000258.3):c.158-4delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860830del" "" "likely benign" "" "0000608738" "0" "10" "3" "46904800" "46904800" "subst" "0.000362883" "02330" "MYL3_000033" "g.46904800A>G" "" "" "" "MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863310A>G" "" "benign" "" "0000608739" "0" "30" "3" "46904800" "46904800" "subst" "0.000362883" "02327" "MYL3_000033" "g.46904800A>G" "" "" "" "MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863310A>G" "" "likely benign" "" "0000608740" "0" "50" "3" "46904867" "46904867" "subst" "0" "02326" "MYL3_000075" "g.46904867T>C" "" "" "" "MYL3(NM_000258.2):c.14A>G (p.K5R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863377T>C" "" "VUS" "" "0000608741" "0" "50" "3" "46904879" "46904879" "subst" "0" "02327" "MYL3_000076" "g.46904879A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46863389A>T" "" "VUS" "" "0000621279" "0" "30" "3" "46899716" "46899716" "subst" "0.000365512" "01943" "MYL3_000071" "g.46899716C>G" "" "" "" "MYL3(NM_000258.2):c.*13+5G>C, MYL3(NM_000258.3):c.*13+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858226C>G" "" "likely benign" "" "0000651263" "1" "50" "3" "46900985" "46900985" "subst" "2.4371E-5" "03575" "MYL3_000003" "g.46900985C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs104893749}" "Germline" "" "rs104893749" "0" "" "" "g.46859495C>T" "" "VUS" "" "0000651264" "1" "50" "3" "46900986" "46900986" "subst" "1.21849E-5" "03575" "MYL3_000020" "g.46900986G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs143852164}" "Germline" "" "rs143852164" "0" "" "" "g.46859496G>A" "" "VUS" "" "0000654963" "0" "10" "3" "46899716" "46899716" "subst" "0.000365512" "02330" "MYL3_000071" "g.46899716C>G" "" "" "" "MYL3(NM_000258.2):c.*13+5G>C, MYL3(NM_000258.3):c.*13+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858226C>G" "" "benign" "" "0000654964" "0" "50" "3" "46899903" "46899903" "subst" "6.09761E-5" "01943" "MYL3_000055" "g.46899903T>C" "" "" "" "MYL3(NM_000258.2):c.530A>G (p.E177G), MYL3(NM_000258.3):c.530A>G (p.E177G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46858413T>C" "" "VUS" "" "0000654965" "0" "50" "3" "46902228" "46902228" "subst" "3.24905E-5" "02326" "MYL3_000077" "g.46902228G>A" "" "" "" "MYL3(NM_000258.2):c.245C>T (p.A82V), MYL3(NM_000258.3):c.245C>T (p.A82V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.46860738G>A" "" "VUS" "" "0000677006" "0" "50" "3" "46899876" "46899876" "subst" "8.12632E-6" "02330" "MYL3_000078" "g.46899876T>G" "" "" "" "MYL3(NM_000258.3):c.557A>C (p.E186A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677007" "0" "30" "3" "46899968" "46899968" "subst" "0.000189694" "02327" "MYL3_000025" "g.46899968G>A" "" "" "" "MYL3(NM_000258.2):c.482-17C>T, MYL3(NM_000258.3):c.482-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677008" "0" "50" "3" "46901025" "46901025" "subst" "4.06072E-6" "02330" "MYL3_000042" "g.46901025C>T" "" "" "" "MYL3(NM_000258.2):c.421G>A (p.D141N), MYL3(NM_000258.3):c.421G>A (p.D141N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689090" "0" "50" "3" "46899903" "46899903" "subst" "6.09761E-5" "02325" "MYL3_000055" "g.46899903T>C" "" "" "" "MYL3(NM_000258.2):c.530A>G (p.E177G), MYL3(NM_000258.3):c.530A>G (p.E177G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689091" "0" "70" "3" "46900985" "46900985" "subst" "2.4371E-5" "02330" "MYL3_000003" "g.46900985C>T" "" "" "" "MYL3(NM_000258.2):c.461G>A (p.R154H), MYL3(NM_000258.3):c.461G>A (p.R154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000700490" "0" "50" "3" "46904817" "46904817" "subst" "0" "00006" "MYL3_000089" "g.46904817C>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46863327C>A" "" "VUS" "" "0000700491" "0" "50" "3" "46904753" "46904753" "subst" "0" "00006" "MYL3_000088" "g.46904753T>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46863263T>G" "" "VUS" "" "0000700492" "0" "50" "3" "46902285" "46902285" "subst" "2.03042E-5" "00006" "MYL3_000087" "g.46902285C>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46860795C>T" "" "VUS" "" "0000700493" "0" "50" "3" "46901063" "46901063" "subst" "0" "00006" "MYL3_000085" "g.46901063C>T" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859573C>T" "" "VUS" "" "0000700494" "0" "90" "3" "46901001" "46901001" "subst" "0" "00006" "MYL3_000002" "g.46901001T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859511T>C" "" "pathogenic" "" "0000700495" "0" "50" "3" "46900992" "46900992" "subst" "0" "00006" "MYL3_000011" "g.46900992C>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859502C>T" "" "VUS" "" "0000700496" "0" "50" "3" "46900986" "46900986" "subst" "1.21849E-5" "00006" "MYL3_000020" "g.46900986G>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859496G>A" "" "VUS" "" "0000700497" "0" "50" "3" "46900985" "46900985" "subst" "2.4371E-5" "00006" "MYL3_000003" "g.46900985C>T" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859495C>T" "" "VUS" "" "0000700498" "0" "90" "3" "46900983" "46900983" "subst" "0" "00006" "MYL3_000012" "g.46900983G>C" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859493G>C" "" "pathogenic" "" "0000700499" "0" "50" "3" "46900980" "46900980" "subst" "4.0622E-6" "00006" "MYL3_000082" "g.46900980C>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859490C>G" "" "VUS" "" "0000700500" "0" "50" "3" "46899912" "46899912" "subst" "8.13431E-6" "00006" "MYL3_000080" "g.46899912G>A" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46858422G>A" "" "VUS" "" "0000700501" "0" "50" "3" "46899894" "46899894" "subst" "0" "00006" "MYL3_000079" "g.46899894T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46858404T>C" "" "VUS" "" "0000701358" "0" "50" "3" "46904870" "46904870" "subst" "0" "00006" "MYL3_000090" "g.46904870T>C" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46863380T>C" "" "VUS" "" "0000701359" "0" "70" "3" "46902303" "46902303" "subst" "7.30964E-5" "00006" "MYL3_000008" "g.46902303G>C" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46860813G>C" "" "likely pathogenic" "" "0000701360" "0" "50" "3" "46902286" "46902286" "subst" "1.62437E-5" "00006" "MYL3_000065" "g.46902286G>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46860796G>A" "" "VUS" "" "0000701361" "0" "70" "3" "46902192" "46902192" "subst" "8.12565E-6" "00006" "MYL3_000005" "g.46902192C>T" "4/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46860702C>T" "" "likely pathogenic" "" "0000701362" "0" "50" "3" "46901108" "46901108" "subst" "0" "00006" "MYL3_000086" "g.46901108G>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859618G>A" "" "VUS" "" "0000701363" "0" "50" "3" "46901019" "46901019" "subst" "8.12117E-6" "00006" "MYL3_000009" "g.46901019C>T" "3/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859529C>T" "" "VUS" "" "0000701364" "0" "50" "3" "46901000" "46901000" "subst" "0" "00006" "MYL3_000084" "g.46901000A>G" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859510A>G" "" "VUS" "" "0000701365" "0" "50" "3" "46900986" "46900986" "subst" "1.21849E-5" "00006" "MYL3_000020" "g.46900986G>A" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.46859496G>A" "" "VUS" "" "0000701366" "0" "50" "3" "46900985" "46900985" "subst" "2.4371E-5" "00006" "MYL3_000003" "g.46900985C>T" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.46859495C>T" "" "VUS" "" "0000701367" "0" "50" "3" "46900980" "46900980" "subst" "1.62488E-5" "00006" "MYL3_000006" "g.46900980C>T" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859490C>T" "" "VUS" "" "0000701368" "0" "50" "3" "46900980" "46900980" "subst" "8.1244E-6" "00006" "MYL3_000083" "g.46900980C>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46859490C>A" "" "VUS" "" "0000701369" "0" "50" "3" "46899916" "46899916" "subst" "4.06666E-6" "00006" "MYL3_000007" "g.46899916T>C" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.46858426T>C" "" "VUS" "" "0000701370" "0" "50" "3" "46899913" "46899913" "subst" "4.06709E-6" "00006" "MYL3_000081" "g.46899913C>G" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.46858423C>G" "" "VUS" "" "0000704368" "0" "50" "3" "46904855" "46904855" "subst" "0" "00006" "MYL3_000091" "g.46904855T>C" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.46863365T>C" "" "VUS" "ACMG" "0000719448" "0" "30" "3" "46899969" "46899969" "subst" "0" "02326" "MYL3_000026" "g.46899969C>T" "" "" "" "MYL3(NM_000258.2):c.482-18G>A, MYL3(NM_000258.3):c.482-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719449" "0" "50" "3" "46902193" "46902193" "subst" "2.0314E-5" "01943" "MYL3_000092" "g.46902193G>A" "" "" "" "MYL3(NM_000258.2):c.280C>T (p.R94C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719450" "0" "10" "3" "46902226" "46902226" "subst" "8.12236E-6" "02330" "MYL3_000064" "g.46902226G>A" "" "" "" "MYL3(NM_000258.2):c.247C>T (p.L83=), MYL3(NM_000258.3):c.247C>T (p.L83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000801245" "0" "50" "3" "46899903" "46899903" "subst" "6.09761E-5" "02330" "MYL3_000055" "g.46899903T>C" "" "" "" "MYL3(NM_000258.2):c.530A>G (p.E177G), MYL3(NM_000258.3):c.530A>G (p.E177G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801246" "0" "50" "3" "46902253" "46902253" "subst" "7.30929E-5" "01943" "MYL3_000049" "g.46902253C>T" "" "" "" "MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850340" "0" "10" "3" "46899855" "46899855" "subst" "0.000564724" "02330" "MYL3_000093" "g.46899855C>T" "" "" "" "MYL3(NM_000258.3):c.559+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850341" "0" "30" "3" "46899929" "46899929" "subst" "0" "02327" "MYL3_000094" "g.46899929T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850342" "0" "30" "3" "46899947" "46899947" "subst" "0" "02327" "MYL3_000095" "g.46899947C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859036" "0" "50" "3" "46899916" "46899916" "subst" "4.06666E-6" "02330" "MYL3_000007" "g.46899916T>C" "" "" "" "MYL3(NM_000258.3):c.517A>G (p.M173V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885851" "0" "30" "3" "46899901" "46899901" "subst" "0.000219494" "02330" "MYL3_000054" "g.46899901C>T" "" "" "" "MYL3(NM_000258.3):c.532G>A (p.D178N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885852" "0" "50" "3" "46900980" "46900980" "subst" "8.1244E-6" "02325" "MYL3_000083" "g.46900980C>A" "" "" "" "MYL3(NM_000258.3):c.466G>T (p.V156L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885853" "0" "10" "3" "46901053" "46901053" "subst" "8.1211E-6" "02330" "MYL3_000097" "g.46901053C>T" "" "" "" "MYL3(NM_000258.3):c.393G>A (p.E131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885854" "0" "50" "3" "46902246" "46902246" "subst" "0" "02330" "MYL3_000098" "g.46902246C>A" "" "" "" "MYL3(NM_000258.3):c.227G>T (p.C76F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885855" "0" "50" "3" "46902253" "46902253" "subst" "7.30929E-5" "02325" "MYL3_000049" "g.46902253C>T" "" "" "" "MYL3(NM_000258.2):c.220G>A (p.G74R), MYL3(NM_000258.3):c.220G>A (p.G74R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885856" "0" "70" "3" "46902303" "46902303" "subst" "7.30964E-5" "02330" "MYL3_000008" "g.46902303G>C" "" "" "" "MYL3(NM_000258.2):c.170C>G (p.A57G), MYL3(NM_000258.3):c.170C>G (p.A57G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885857" "0" "50" "3" "46904775" "46904775" "subst" "1.22464E-5" "02326" "MYL3_000099" "g.46904775C>T" "" "" "" "MYL3(NM_000258.2):c.106G>A (p.E36K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911949" "0" "50" "3" "46902303" "46902303" "subst" "0.000166497" "02325" "MYL3_000019" "g.46902303G>T" "" "" "" "MYL3(NM_000258.2):c.170C>A (p.A57D), MYL3(NM_000258.3):c.170C>A (p.A57D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923956" "0" "30" "3" "46899701" "46899701" "subst" "8.12374E-6" "02326" "MYL3_000100" "g.46899701A>G" "" "" "" "MYL3(NM_000258.2):c.*13+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928790" "0" "50" "3" "46902303" "46902303" "subst" "0" "02325" "MYL3_000101" "g.46902303G>A" "" "" "" "MYL3(NM_000258.3):c.170C>T (p.A57V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948175" "0" "30" "3" "46899716" "46899716" "subst" "0.000365512" "02327" "MYL3_000071" "g.46899716C>G" "" "" "" "MYL3(NM_000258.2):c.*13+5G>C, MYL3(NM_000258.3):c.*13+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948176" "0" "10" "3" "46902150" "46902150" "subst" "0" "02330" "MYL3_000102" "g.46902150C>G" "" "" "" "MYL3(NM_000258.3):c.307+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948177" "0" "30" "3" "46902227" "46902227" "subst" "8.93495E-5" "02325" "MYL3_000103" "g.46902227C>T" "" "" "" "MYL3(NM_000258.3):c.246G>A (p.A82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948178" "0" "50" "3" "46902232" "46902232" "subst" "2.84278E-5" "02327" "MYL3_000104" "g.46902232G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962792" "0" "10" "3" "46901035" "46901035" "subst" "0.000133998" "02330" "MYL3_000043" "g.46901035C>A" "" "" "" "MYL3(NM_000258.2):c.411G>T (p.L137=), MYL3(NM_000258.3):c.411G>T (p.L137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962793" "0" "70" "3" "46902231" "46902231" "subst" "0" "01804" "MYL3_000018" "g.46902231C>T" "" "" "" "MYL3(NM_000258.2):c.242G>A (p.(Arg81Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000962794" "0" "50" "3" "46904877" "46904877" "subst" "4.48098E-5" "02325" "MYL3_000037" "g.46904877C>G" "" "" "" "MYL3(NM_000258.2):c.4G>C (p.A2P), MYL3(NM_000258.3):c.4G>C (p.A2P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975843" "0" "10" "3" "46904735" "46904735" "subst" "0" "02330" "MYL3_000105" "g.46904735C>A" "" "" "" "MYL3(NM_000258.3):c.129+17G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989639" "0" "50" "3" "46899903" "46899903" "subst" "6.09761E-5" "02515" "MYL3_000055" "g.46899903T>C" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "rs193922391" "0" "" "" "g.46858413T>C" "" "VUS" "" "0000993687" "0" "30" "3" "46899729" "46899729" "subst" "8.52792E-5" "02330" "MYL3_000106" "g.46899729G>A" "" "" "" "MYL3(NM_000258.3):c.*5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993688" "0" "50" "3" "46899901" "46899901" "subst" "0.000219494" "02325" "MYL3_000054" "g.46899901C>T" "" "" "" "MYL3(NM_000258.3):c.532G>A (p.D178N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024826" "0" "50" "3" "46899912" "46899912" "subst" "8.13431E-6" "02330" "MYL3_000080" "g.46899912G>A" "" "" "" "MYL3(NM_000258.3):c.521C>T (p.A174V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024827" "0" "50" "3" "46900985" "46900985" "subst" "2.4371E-5" "02325" "MYL3_000003" "g.46900985C>T" "" "" "" "MYL3(NM_000258.2):c.461G>A (p.R154H), MYL3(NM_000258.3):c.461G>A (p.R154H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024828" "0" "50" "3" "46902467" "46902467" "subst" "2.43752E-5" "02325" "MYL3_000107" "g.46902467G>A" "" "" "" "MYL3(NM_000258.3):c.140C>T (p.T47I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030892" "0" "50" "3" "46902279" "46902279" "subst" "0" "03779" "MYL3_000108" "g.46902279G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001030939" "0" "50" "3" "46904871" "46904871" "subst" "0" "03779" "MYL3_000036" "g.46904871T>G" "" "" "" "" "" "Unknown" "" "rs1404760917" "0" "" "" "" "" "VUS" "" "0001033979" "0" "50" "3" "46901034" "46901034" "subst" "4.06065E-6" "01804" "MYL3_000109" "g.46901034G>A" "" "" "" "MYL3(NM_000258.3):c.412C>T (p.(Arg138Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033980" "0" "50" "3" "46902228" "46902228" "subst" "3.24905E-5" "02325" "MYL3_000077" "g.46902228G>A" "" "" "" "MYL3(NM_000258.2):c.245C>T (p.A82V), MYL3(NM_000258.3):c.245C>T (p.A82V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033981" "0" "30" "3" "46904800" "46904800" "subst" "0.000362883" "02326" "MYL3_000033" "g.46904800A>G" "" "" "" "MYL3(NM_000258.2):c.81T>C (p.P27=), MYL3(NM_000258.3):c.81T>C (p.P27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045924" "0" "50" "3" "46899877" "46899877" "subst" "0" "02326" "MYL3_000110" "g.46899877C>T" "" "" "" "MYL3(NM_000258.2):c.556G>A (p.E186K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045925" "0" "50" "3" "46902303" "46902303" "subst" "7.30964E-5" "02326" "MYL3_000008" "g.46902303G>C" "" "" "" "MYL3(NM_000258.2):c.170C>G (p.A57G), MYL3(NM_000258.3):c.170C>G (p.A57G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MYL3 ## Count = 191 "{{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}}" "0000036028" "00014150" "55" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Met)" "?" "0000095512" "00014150" "50" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Cys)" "" "0000095638" "00014150" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Met)" "" "0000254206" "00014150" "30" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(Pro27=)" "" "0000292783" "00014150" "10" "-13" "0" "-13" "0" "c.-13C>T" "r.(?)" "p.(=)" "" "0000292785" "00014150" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Gly74Arg)" "" "0000292786" "00014150" "10" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Gly74=)" "" "0000292787" "00014150" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Val79Ile)" "" "0000292789" "00014150" "10" "267" "0" "267" "0" "c.267G>A" "r.(?)" "p.(Gln89=)" "" "0000292791" "00014150" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "" "0000292792" "00014150" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Thr147Ala)" "" "0000292794" "00014150" "10" "482" "-17" "482" "-17" "c.482-17C>T" "r.(=)" "p.(=)" "" "0000292795" "00014150" "50" "4" "0" "4" "0" "c.4G>C" "r.(?)" "p.(Ala2Pro)" "" "0000292796" "00014150" "10" "559" "6" "559" "6" "c.559+6C>T" "r.(=)" "p.(=)" "" "0000292797" "00014150" "10" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(Pro23=)" "" "0000296191" "00014150" "30" "482" "-18" "482" "-18" "c.482-18G>A" "r.(=)" "p.(=)" "" "0000296192" "00014150" "70" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Met173Val)" "" "0000299756" "00014150" "30" "-27" "0" "-27" "0" "c.-27C>T" "r.(?)" "p.(=)" "" "0000299757" "00014150" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Gly74Arg)" "" "0000299758" "00014150" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Asp141Asn)" "" "0000299759" "00014150" "50" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0000302545" "00014150" "50" "596" "0" "596" "0" "c.*8G>A" "r.(=)" "p.(=)" "" "0000302546" "00014150" "50" "10" "0" "10" "0" "c.10A>C" "r.(?)" "p.(Lys4Gln)" "" "0000302547" "00014150" "10" "129" "54" "129" "55" "c.129+54_129+55del" "r.(=)" "p.(=)" "" "0000302548" "00014150" "50" "411" "0" "411" "0" "c.411G>T" "r.(?)" "p.(Leu137=)" "" "0000302549" "00014150" "70" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(His155Tyr)" "" "0000302550" "00014150" "50" "4" "0" "4" "0" "c.4G>C" "r.(?)" "p.(Ala2Pro)" "" "0000302551" "00014150" "10" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(Pro23=)" "" "0000442810" "00014150" "90" "167" "0" "167" "0" "c.167A>G" "r.(?)" "p.(Glu56Gly)" "3" "0000442811" "00014150" "90" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Met149Val)" "4" "0000442812" "00014150" "90" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "4" "0000442813" "00014150" "90" "482" "-2" "482" "-2" "c.482-2A>G" "r.482_559del" "p.Gly161_Glu186del" "4i" "0000442814" "00014150" "90" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "3" "0000442815" "00014150" "90" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Val156Met)" "4" "0000442816" "00014150" "90" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Met173Val)" "5" "0000442817" "00014150" "70" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "3" "0000442818" "00014150" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "4" "0000442819" "00014150" "70" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "3" "0000442820" "00014150" "70" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "3" "0000442821" "00014150" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "4" "0000442822" "00014150" "90" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Val156Met)" "4" "0000442823" "00014150" "30" "559" "6" "559" "6" "c.559+6C>T" "r.=" "p.=" "5i" "0000442824" "00014150" "90" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "3" "0000442825" "00014150" "50" "615" "0" "615" "0" "c.*27G>A" "r.(?)" "p.(=)" "7" "0000442826" "00014150" "90" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "4" "0000442827" "00014150" "90" "463" "0" "463" "0" "c.463C>G" "r.(?)" "p.(His155Asp)" "4" "0000442828" "00014150" "90" "382" "0" "382" "0" "c.382G>T" "r.(?)" "p.(Gly128Cys)" "4" "0000442829" "00014150" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "4" "0000442830" "00014150" "90" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "4" "0000442831" "00014150" "90" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "3" "0000442832" "00014150" "90" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Met149Val)" "4" "0000442833" "00014150" "30" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(=)" "1" "0000442834" "00014150" "30" "261" "0" "261" "0" "c.261C>T" "r.(?)" "p.(=)" "3" "0000442835" "00014150" "30" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(=)" "4" "0000442836" "00014150" "10" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(=)" "1" "0000442837" "00014150" "10" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(=)" "4" "0000519923" "00014150" "10" "806" "0" "806" "0" "c.*218A>G" "r.(=)" "p.(=)" "" "0000519924" "00014150" "10" "677" "0" "677" "0" "c.*89G>A" "r.(=)" "p.(=)" "" "0000519925" "00014150" "50" "655" "0" "655" "0" "c.*67C>T" "r.(=)" "p.(=)" "" "0000519926" "00014150" "30" "602" "-13" "602" "-13" "c.*14-13C>G" "r.(=)" "p.(=)" "" "0000519928" "00014150" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Glu177Gly)" "" "0000519929" "00014150" "70" "518" "0" "518" "0" "c.518T>C" "r.(?)" "p.(Met173Thr)" "" "0000519930" "00014150" "50" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Met173Val)" "" "0000519931" "00014150" "30" "482" "-17" "482" "-17" "c.482-17C>T" "r.(=)" "p.(=)" "" "0000519932" "00014150" "30" "482" "-18" "482" "-18" "c.482-18G>A" "r.(=)" "p.(=)" "" "0000519933" "00014150" "30" "482" "-26" "482" "-26" "c.482-26C>T" "r.(=)" "p.(=)" "" "0000519934" "00014150" "10" "482" "-100" "482" "-100" "c.482-100C>T" "r.(=)" "p.(=)" "" "0000519935" "00014150" "10" "481" "108" "481" "108" "c.481+108C>T" "r.(=)" "p.(=)" "" "0000519936" "00014150" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Met)" "" "0000519937" "00014150" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Val156Met)" "" "0000519938" "00014150" "70" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0000519939" "00014150" "70" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0000519940" "00014150" "50" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ala151Val)" "" "0000519941" "00014150" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ala151Val)" "" "0000519942" "00014150" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ala151Val)" "" "0000519943" "00014150" "90" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Ala151Val)" "" "0000519944" "00014150" "10" "399" "0" "399" "0" "c.399C>T" "r.(?)" "p.(Phe133=)" "" "0000519945" "00014150" "10" "307" "37" "307" "37" "c.307+37A>C" "r.(=)" "p.(=)" "" "0000519946" "00014150" "10" "307" "16" "307" "16" "c.307+16G>A" "r.(=)" "p.(=)" "" "0000519947" "00014150" "10" "307" "15" "307" "15" "c.307+15C>T" "r.(=)" "p.(=)" "" "0000519948" "00014150" "30" "307" "15" "307" "15" "c.307+15C>T" "r.(=)" "p.(=)" "" "0000519949" "00014150" "30" "307" "15" "307" "15" "c.307+15C>T" "r.(=)" "p.(=)" "" "0000519950" "00014150" "30" "307" "15" "307" "15" "c.307+15C>T" "r.(=)" "p.(=)" "" "0000519951" "00014150" "30" "307" "15" "307" "15" "c.307+15C>T" "r.(=)" "p.(=)" "" "0000519952" "00014150" "30" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Leu83=)" "" "0000519953" "00014150" "30" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Leu83=)" "" "0000519954" "00014150" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0000519955" "00014150" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0000519957" "00014150" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0000519958" "00014150" "90" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000519959" "00014150" "50" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000519960" "00014150" "50" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000519961" "00014150" "50" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000519962" "00014150" "10" "158" "-4" "158" "-4" "c.158-4del" "r.spl?" "p.?" "" "0000519963" "00014150" "10" "130" "-14" "130" "-14" "c.130-14G>T" "r.(=)" "p.(=)" "" "0000519964" "00014150" "10" "130" "-14" "130" "-14" "c.130-14G>T" "r.(=)" "p.(=)" "" "0000519965" "00014150" "30" "130" "-14" "130" "-14" "c.130-14G>T" "r.(=)" "p.(=)" "" "0000519966" "00014150" "30" "130" "-14" "130" "-14" "c.130-14G>T" "r.(=)" "p.(=)" "" "0000519967" "00014150" "10" "130" "-14" "130" "-14" "c.130-14G>T" "r.(=)" "p.(=)" "" "0000519968" "00014150" "30" "129" "54" "129" "55" "c.129+54_129+55del" "r.(=)" "p.(=)" "" "0000519969" "00014150" "10" "129" "44" "129" "44" "c.129+44G>T" "r.(=)" "p.(=)" "" "0000519970" "00014150" "50" "92" "0" "92" "0" "c.92G>A" "r.(?)" "p.(Arg31His)" "" "0000519971" "00014150" "10" "69" "0" "69" "0" "c.69C>T" "r.(?)" "p.(Pro23=)" "" "0000519972" "00014150" "50" "54" "0" "54" "0" "c.54G>C" "r.(?)" "p.(Lys18Asn)" "" "0000519973" "00014150" "50" "10" "0" "10" "0" "c.10A>C" "r.(?)" "p.(Lys4Gln)" "" "0000608733" "00014150" "30" "528" "0" "528" "0" "c.528A>G" "r.(?)" "p.(Gln176=)" "" "0000608734" "00014150" "30" "477" "0" "477" "0" "c.477G>A" "r.(?)" "p.(Thr159=)" "" "0000608735" "00014150" "50" "476" "0" "476" "0" "c.476C>T" "r.(?)" "p.(Thr159Met)" "" "0000608736" "00014150" "70" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "0000608737" "00014150" "30" "158" "-4" "158" "-4" "c.158-4del" "r.spl?" "p.?" "" "0000608738" "00014150" "10" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(Pro27=)" "" "0000608739" "00014150" "30" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(Pro27=)" "" "0000608740" "00014150" "50" "14" "0" "14" "0" "c.14A>G" "r.(?)" "p.(Lys5Arg)" "" "0000608741" "00014150" "50" "2" "0" "2" "0" "c.2T>A" "r.(?)" "p.(Met1?)" "" "0000621279" "00014150" "30" "601" "5" "601" "5" "c.*13+5G>C" "r.spl?" "p.?" "" "0000651263" "00014150" "50" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0000651264" "00014150" "50" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Cys)" "" "0000654963" "00014150" "10" "601" "5" "601" "5" "c.*13+5G>C" "r.spl?" "p.?" "" "0000654964" "00014150" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Glu177Gly)" "" "0000654965" "00014150" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Ala82Val)" "" "0000677006" "00014150" "50" "557" "0" "557" "0" "c.557A>C" "r.(?)" "p.(Glu186Ala)" "" "0000677007" "00014150" "30" "482" "-17" "482" "-17" "c.482-17C>T" "r.(=)" "p.(=)" "" "0000677008" "00014150" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Asp141Asn)" "" "0000689090" "00014150" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Glu177Gly)" "" "0000689091" "00014150" "70" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0000700490" "00014150" "50" "64" "0" "64" "0" "c.64G>T" "r.(?)" "p.(Ala22Ser)" "" "0000700491" "00014150" "50" "128" "0" "128" "0" "c.128A>C" "r.(?)" "p.(Lys43Thr)" "" "0000700492" "00014150" "50" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63His)" "" "0000700493" "00014150" "50" "383" "0" "383" "0" "c.383G>A" "r.(?)" "p.(Gly128Asp)" "" "0000700494" "00014150" "90" "445" "0" "445" "0" "c.445A>G" "r.(?)" "p.(Met149Val)" "" "0000700495" "00014150" "50" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Glu152Lys)" "" "0000700496" "00014150" "50" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Cys)" "" "0000700497" "00014150" "50" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0000700498" "00014150" "90" "463" "0" "463" "0" "c.463C>G" "r.(?)" "p.(His155Asp)" "" "0000700499" "00014150" "50" "466" "0" "466" "0" "c.466G>C" "r.(?)" "p.(Val156Leu)" "" "0000700500" "00014150" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ala174Val)" "" "0000700501" "00014150" "50" "539" "0" "539" "0" "c.539A>G" "r.(?)" "p.(Asn180Ser)" "" "0000701358" "00014150" "50" "11" "0" "11" "0" "c.11A>G" "r.(?)" "p.(Lys4Arg)" "" "0000701359" "00014150" "70" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "" "0000701360" "00014150" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Cys)" "" "0000701361" "00014150" "70" "281" "0" "281" "0" "c.281G>A" "r.(?)" "p.(Arg94His)" "" "0000701362" "00014150" "50" "338" "0" "338" "0" "c.338C>T" "r.(?)" "p.(Thr113Ile)" "" "0000701363" "00014150" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "" "0000701364" "00014150" "50" "446" "0" "446" "0" "c.446T>C" "r.(?)" "p.(Met149Thr)" "" "0000701365" "00014150" "50" "460" "0" "460" "0" "c.460C>T" "r.(?)" "p.(Arg154Cys)" "" "0000701366" "00014150" "50" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0000701367" "00014150" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Val156Met)" "" "0000701368" "00014150" "50" "466" "0" "466" "0" "c.466G>T" "r.(?)" "p.(Val156Leu)" "" "0000701369" "00014150" "50" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Met173Val)" "" "0000701370" "00014150" "50" "520" "0" "520" "0" "c.520G>C" "r.(?)" "p.(Ala174Pro)" "" "0000704368" "00014150" "50" "26" "0" "26" "0" "c.26A>G" "r.(?)" "p.(Lys9Arg)" "" "0000719448" "00014150" "30" "482" "-18" "482" "-18" "c.482-18G>A" "r.(=)" "p.(=)" "" "0000719449" "00014150" "50" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94Cys)" "" "0000719450" "00014150" "10" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Leu83=)" "" "0000801245" "00014150" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Glu177Gly)" "" "0000801246" "00014150" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Gly74Arg)" "" "0000850340" "00014150" "10" "559" "19" "559" "19" "c.559+19G>A" "r.(=)" "p.(=)" "" "0000850341" "00014150" "30" "504" "0" "504" "0" "c.504A>G" "r.(?)" "p.(Glu168=)" "" "0000850342" "00014150" "30" "486" "0" "486" "0" "c.486G>A" "r.(?)" "p.(Glu162=)" "" "0000859036" "00014150" "50" "517" "0" "517" "0" "c.517A>G" "r.(?)" "p.(Met173Val)" "" "0000885851" "00014150" "30" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Asp178Asn)" "" "0000885852" "00014150" "50" "466" "0" "466" "0" "c.466G>T" "r.(?)" "p.(Val156Leu)" "" "0000885853" "00014150" "10" "393" "0" "393" "0" "c.393G>A" "r.(?)" "p.(Glu131=)" "" "0000885854" "00014150" "50" "227" "0" "227" "0" "c.227G>T" "r.(?)" "p.(Cys76Phe)" "" "0000885855" "00014150" "50" "220" "0" "220" "0" "c.220G>A" "r.(?)" "p.(Gly74Arg)" "" "0000885856" "00014150" "70" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "" "0000885857" "00014150" "50" "106" "0" "106" "0" "c.106G>A" "r.(?)" "p.(Glu36Lys)" "" "0000911949" "00014150" "50" "170" "0" "170" "0" "c.170C>A" "r.(?)" "p.(Ala57Asp)" "" "0000923956" "00014150" "30" "601" "20" "601" "20" "c.*13+20T>C" "r.(=)" "p.(=)" "" "0000928790" "00014150" "50" "170" "0" "170" "0" "c.170C>T" "r.(?)" "p.(Ala57Val)" "" "0000948175" "00014150" "30" "601" "5" "601" "5" "c.*13+5G>C" "r.spl?" "p.?" "" "0000948176" "00014150" "10" "307" "16" "307" "16" "c.307+16G>C" "r.(=)" "p.(=)" "" "0000948177" "00014150" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(=)" "" "0000948178" "00014150" "50" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Arg81Trp)" "" "0000962792" "00014150" "10" "411" "0" "411" "0" "c.411G>T" "r.(?)" "p.(Leu137=)" "" "0000962793" "00014150" "70" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0000962794" "00014150" "50" "4" "0" "4" "0" "c.4G>C" "r.(?)" "p.(Ala2Pro)" "" "0000975843" "00014150" "10" "129" "17" "129" "17" "c.129+17G>T" "r.(=)" "p.(=)" "" "0000989639" "00014150" "50" "530" "0" "530" "0" "c.530A>G" "r.(?)" "p.(Glu177Gly)" "" "0000993687" "00014150" "30" "593" "0" "593" "0" "c.*5C>T" "r.(=)" "p.(=)" "" "0000993688" "00014150" "50" "532" "0" "532" "0" "c.532G>A" "r.(?)" "p.(Asp178Asn)" "" "0001024826" "00014150" "50" "521" "0" "521" "0" "c.521C>T" "r.(?)" "p.(Ala174Val)" "" "0001024827" "00014150" "50" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Arg154His)" "" "0001024828" "00014150" "50" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Thr47Ile)" "" "0001030892" "00014150" "50" "194" "0" "194" "0" "c.194C>A" "r.(?)" "p.(Pro65His)" "" "0001030939" "00014150" "50" "10" "0" "10" "0" "c.10A>C" "r.(?)" "p.(Lys4Gln)" "" "0001033979" "00014150" "50" "412" "0" "412" "0" "c.412C>T" "r.(?)" "p.(Arg138Trp)" "" "0001033980" "00014150" "50" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Ala82Val)" "" "0001033981" "00014150" "30" "81" "0" "81" "0" "c.81T>C" "r.(?)" "p.(Pro27=)" "" "0001045924" "00014150" "50" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Glu186Lys)" "" "0001045925" "00014150" "50" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ala57Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{variantid}}" "0000016270" "0000036028" "0000064289" "0000095512" "0000064326" "0000095638" "0000211326" "0000442810" "0000211327" "0000442811" "0000211328" "0000442812" "0000211329" "0000442813" "0000211330" "0000442814" "0000211331" "0000442815" "0000211332" "0000442816" "0000211333" "0000442817" "0000211334" "0000442818" "0000211335" "0000442819" "0000211336" "0000442820" "0000211337" "0000442821" "0000211338" "0000442822" "0000211339" "0000442823" "0000211340" "0000442824" "0000211341" "0000442825" "0000211342" "0000442826" "0000211343" "0000442827" "0000211344" "0000442828" "0000211345" "0000442829" "0000211345" "0000442830" "0000211346" "0000442831" "0000211347" "0000442832" "0000211348" "0000442833" "0000211349" "0000442834" "0000211350" "0000442835" "0000211351" "0000442836" "0000211352" "0000442837" "0000294574" "0000651263" "0000294575" "0000651264" "0000317884" "0000700490" "0000317885" "0000700491" "0000317886" "0000700492" "0000317887" "0000700493" "0000317888" "0000700494" "0000317889" "0000700495" "0000317890" "0000700496" "0000317891" "0000700497" "0000317892" "0000700498" "0000317893" "0000700499" "0000317894" "0000700500" "0000317895" "0000700501" "0000318752" "0000701358" "0000318753" "0000701359" "0000318754" "0000701360" "0000318755" "0000701361" "0000318756" "0000701362" "0000318757" "0000701363" "0000318758" "0000701364" "0000318759" "0000701365" "0000318760" "0000701366" "0000318761" "0000701367" "0000318762" "0000701368" "0000318763" "0000701369" "0000318764" "0000701370" "0000321495" "0000704368" "0000454738" "0000989639"