### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYL2) # 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}}" "MYL2" "myosin, light chain 2, regulatory, cardiac, slow" "12" "q24.11" "unknown" "NG_007554.1" "UD_132119066843" "" "https://www.LOVD.nl/MYL2" "" "1" "7583" "4633" "160781" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/MYL2_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 16:25:29" "00000" "2025-05-30 15:56:03" ## 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}}" "00014149" "MYL2" "myosin, light chain 2, regulatory, cardiac, slow" "001" "NM_000432.3" "" "NP_000423.2" "" "" "" "-71" "759" "501" "111358404" "111348623" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "01959" "CMYO4A;CFTD" "myopathy, congenital, type 4A" "AD" "255310" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-02-07 14:49:08" "02787" "CMH10" "cardiomyopathy, hypertrophic, familial, type 10 (CMH-10)" "AD" "608758" "" "" "" "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" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "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}}" "MYL2" "02787" ## Individuals ## Do not remove or alter this header ## ## Count = 86 "{{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}}" "00064075" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064085" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064094" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00064199" "" "" "" "1" "" "00006" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "analysis of 223 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00108633" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "M" "" "Italy" "" "0" "" "" "" "Pat865" "00163746" "" "" "" "1" "" "02444" "Congenital fiber type disproportion with cardiomyopathy associated with variants in MYL2 and NEB Marttila, M., Al Ghamdi, F., Abdel-Hamid, H., Lacomis, D., Beggs, A. H." "" "M" "no" "United States" "" "0" "" "" "" "BOS1053" "00163885" "" "" "" "1" "" "02438" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "3-generation family, 2 affected siblings (2F), 3 unaffected (2M, 1F)" "F" "" "Netherlands" "00y06m" "" "yes" "" "white" "" "00210208" "" "" "" "1" "" "00006" "{PMID:Poetter:8673105}" "affected individual, family members variable expression/decreased penetrance" "" "" "United States" "" "0" "" "" "" "" "00210209" "" "" "" "12" "" "00006" "{PMID:Flavigny 1998:9535554}, {OMIM160781:0005}" "4-generation family, 8 affecteds, 4 unaffected young carriers" "" "" "France" "" "0" "" "" "" "Fam734" "00210210" "" "" "" "2" "" "00006" "{PMID:Poetter:8673105}" "2 affected brothers" "" "" "United States" "" "0" "" "" "" "" "00210211" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}, {PMID:Hougs 2005:15483641}" "1 affected" "" "" "Denmark" "" "0" "" "" "" "Pat-ZG" "00210212" "" "" "" "4" "" "00006" "{PMID:Flavigny 1998:9535554}, {OMIM160781:0004}" "family, 3 affecteds, 1 unaffected carrier" "" "" "France" "" "0" "" "" "" "Fam747" "00210213" "" "" "" "2" "" "00006" "{PMID:Andersen 2001:11748309}" "3-generation family, affected father/son, unaffected mother/aunt 310A>G carrier, unaffected double carrier sister" "" "" "Denmark" "" "0" "" "" "" "Fam-ZY" "00210214" "" "" "" "1" "" "00006" "{PMID:Poetter:8673105}" "" "" "" "United States" "" "0" "" "" "" "" "00210215" "" "" "" "5" "" "00006" "{PMID:Flavigny 1998:9535554}, {OMIM160781:0004}" "family, 5 affecteds" "" "" "France" "" "0" "" "" "" "Fam701" "00210216" "" "" "" "1" "" "00006" "{PMID:Poetter:8673105}" "" "" "" "United States" "" "0" "" "" "" "" "00210217" "" "" "" "1" "" "00006" "{PMID:Caleshu 2011:21823217}" "2-generation family" "F" "" "El Salvador" "" "0" "" "" "" "12021217-FamPat1" "00210218" "" "" "" "3" "" "00006" "{PMID:Andersen 2001:11748309}" "family, 2 affecteds, unaffected young carrier" "" "" "Denmark" "" "0" "" "" "" "Fam-T" "00210219" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "South Africa" "" "0" "" "" "" "" "00210220" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "Denmark" "" "0" "" "" "Denmark;African" "" "00210221" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "Denmark;South Africa" "" "0" "" "" "" "" "00210222" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "2-generation family, 3 affecteds" "" "" "Germany" "" "0" "" "" "white" "Fam-B" "00210223" "" "" "" "7" "" "00006" "{PMID:Kabaeva 2002:12404107}" "4-generation family, 4 affecteds, 3 uncertain carriers" "" "" "Germany" "" "0" "" "" "white" "Fam-K" "00210224" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "white" "" "00210225" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "white" "" "00210226" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "white" "" "00210227" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "white" "" "00210228" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "white" "" "00210229" "" "" "" "1" "" "00006" "{PMID:Kabaeva 2002:12404107}" "" "" "" "Germany" "" "0" "" "" "white" "" "00210230" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00210231" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00210232" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00210233" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "France" "" "0" "" "" "" "" "00210234" "" "" "" "2" "" "00006" "{PMID:Garcia-Pavia 2011:21896538}" "" "" "" "Spain" "" "0" "" "" "" "Fam6-H6" "00210235" "" "" "" "1" "" "00006" "{PMID:Morner 2003:12818575}" "" "" "" "Sweden" "" "0" "" "" "" "12818575-XII" "00210236" "" "" "" "1" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "Italy" "" "0" "" "" "" "" "00210237" "" "" "" "1" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "Italy" "" "0" "" "" "" "" "00210238" "" "" "" "3" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "Italy" "" "0" "" "" "" "" "00210239" "" "" "" "2" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "Italy" "" "0" "" "" "" "" "00210240" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "" "" "0" "" "" "" "" "00210241" "" "" "" "1" "" "00006" "{PMID:Flavigny 1998:9535554}" "" "" "" "" "" "0" "" "" "" "" "00210242" "" "" "" "1" "" "00006" "{PMID:Poetter 1996:8673105}" "" "" "" "" "" "0" "" "" "" "" "00210243" "" "" "" "1" "" "00006" "{PMID:Andersen 2001:11748309}" "" "" "" "" "" "0" "" "" "" "" "00210244" "" "" "" "1" "" "00006" "{PMID:Poetter 1996:8673105}" "" "" "" "" "" "0" "" "" "" "" "00210245" "" "" "" "1" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "" "" "0" "" "" "" "" "00210246" "" "" "" "1" "" "00006" "{PMID:Olivotto 2008:18533079}" "" "" "" "" "" "0" "" "" "" "" "00210247" "" "" "" "1" "" "00006" "{PMID:Richard 2003:12707239}" "" "" "" "" "" "0" "" "" "" "" "00210248" "" "" "" "1" "" "00006" "{PMID:Flavigny 1998:9535554}" "" "" "" "" "" "0" "" "" "" "" "00210249" "" "" "" "1" "" "00006" "{PMID:Poetter 1996:8673105}" "" "" "" "" "" "0" "" "" "" "" "00219095" "" "" "" "12" "" "02588" "{PMID:Renaudin 2018:29549657}" "4-generation family, proband, 11 affected carriers (mean age: 34.1y). There are also 4 children (mean age: 6.3y) carrying the variant, but are not yet affected." "-" "?" "France" "" "0" "" "" "" "Proband-Fam" "00295256" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296719" "" "" "" "1" "" "00006" "{PMID:Haskell 2017:28611029}" "analysis 55 patients" "M" "" "United States" "" "0" "" "" "white" "NCG_00687" "00316695" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316696" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316697" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316698" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316699" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316700" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00316701" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00317547" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317548" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317549" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317550" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317551" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317552" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317553" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317554" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317555" "" "" "" "5" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317556" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317557" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317558" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317559" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317560" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317561" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317562" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317563" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317564" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317565" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317566" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317567" "" "" "" "2" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317568" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317569" "" "" "" "3" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317851" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00446779" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat54" "00453158" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "M" "" "Italy" "" "0" "" "" "white" "Fam321Pat349" "00453227" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam44Pat82" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 86 "{{individualid}}" "{{diseaseid}}" "00064075" "00351" "00064085" "00351" "00064094" "00351" "00064199" "00351" "00108633" "00351" "00163746" "01959" "00163885" "00352" "00210208" "00351" "00210209" "00351" "00210210" "00351" "00210211" "00351" "00210212" "00351" "00210213" "00351" "00210214" "00351" "00210215" "00351" "00210216" "00351" "00210217" "05098" "00210218" "00351" "00210219" "00000" "00210220" "00000" "00210221" "00000" "00210222" "00351" "00210223" "00351" "00210224" "00351" "00210225" "00351" "00210226" "00351" "00210227" "00351" "00210228" "00351" "00210229" "00351" "00210230" "00351" "00210231" "00351" "00210232" "00351" "00210233" "00351" "00210234" "00351" "00210235" "00351" "00210236" "00351" "00210237" "00351" "00210238" "00351" "00210239" "00351" "00210240" "00351" "00210241" "00351" "00210242" "00351" "00210243" "00351" "00210244" "00351" "00210245" "00351" "00210246" "00351" "00210247" "00351" "00210248" "00351" "00210249" "00351" "00219095" "00351" "00295256" "00198" "00296719" "00198" "00316695" "04172" "00316696" "04172" "00316697" "04172" "00316698" "04172" "00316699" "04172" "00316700" "04172" "00316701" "04172" "00317547" "04172" "00317548" "04172" "00317549" "04172" "00317550" "04172" "00317551" "04172" "00317552" "04172" "00317553" "04172" "00317554" "04172" "00317555" "04172" "00317556" "04172" "00317557" "04172" "00317558" "04172" "00317559" "04172" "00317560" "04172" "00317561" "04172" "00317562" "04172" "00317563" "04172" "00317564" "04172" "00317565" "04172" "00317566" "04172" "00317567" "04172" "00317568" "04172" "00317569" "04172" "00317851" "04172" "00446779" "04173" "00453158" "04172" "00453227" "04172" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00351, 00352, 01959, 02787, 04172, 04173, 05098 ## Count = 75 "{{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}}" "0000050591" "00351" "00064075" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050601" "00351" "00064085" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050610" "00351" "00064094" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050715" "00351" "00064199" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000086107" "00351" "00108633" "01401" "Familial" "" "fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; left ventricular wall thickness (mm) 28; hypertrophic obstructive cardiomyopathy, myocardial bridge on anterior interventricular artery, ventricula fibrillation; left ventricular ejection fraction 0.61" "14y" "" "" "" "" "" "" "" "" "" "" "0000128884" "01959" "00163746" "02444" "Familial, autosomal recessive" "" "CFTD with ilated cardiomyopathy (HP:0001644), congenital" "" "" "" "" "" "" "" "" "" "" "" "0000128997" "00352" "00163885" "02438" "Familial, autosomal recessive" "00y06m" "generalized myopathy" "" "00y00m" "" "" "" "" "" "" "" "" "" "0000158774" "00351" "00210208" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158775" "00351" "00210209" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158776" "00351" "00210210" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158777" "00351" "00210211" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158778" "00351" "00210212" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158779" "00351" "00210213" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158780" "00351" "00210214" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158781" "00351" "00210215" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158782" "00351" "00210216" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158783" "05098" "00210217" "00006" "Familial, autosomal recessive" "" "carrier mother MYL2:G57E and MYL3:E143K" "" "" "" "" "" "" "" "" "" "restrictive cardiomyopathy" "" "0000158784" "00351" "00210218" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158785" "00000" "00210219" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158786" "00000" "00210220" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158787" "00000" "00210221" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158788" "00351" "00210222" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158789" "00351" "00210223" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158790" "00351" "00210224" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158791" "00351" "00210225" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158792" "00351" "00210226" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158793" "00351" "00210227" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158794" "00351" "00210228" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158795" "00351" "00210229" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158796" "00351" "00210230" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158797" "00351" "00210231" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158798" "00351" "00210232" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158799" "00351" "00210233" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158800" "00351" "00210234" "00006" "Familial, autosomal recessive" "" "3-generation family, 2 affecteds, 4 unaffected carriers" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158801" "00351" "00210235" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158802" "00351" "00210236" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158803" "00351" "00210237" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158804" "00351" "00210238" "00006" "Unknown" "" "3 cases" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000158805" "00351" "00210239" "00006" "Unknown" "" "2 cases" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000167652" "00351" "00219095" "02588" "Familial, autosomal dominant" "51y" "See paper" "" "44y" "" "" "" "" "" "" "" "" "" "0000224119" "00198" "00296719" "00006" "Unknown" "60y" "hypertrophic cardiomyopathy" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000240441" "04172" "00316695" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240442" "04172" "00316696" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240443" "04172" "00316697" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240444" "04172" "00316698" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240445" "04172" "00316699" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240446" "04172" "00316700" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000240447" "04172" "00316701" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241293" "04172" "00317547" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241294" "04172" "00317548" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241295" "04172" "00317549" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241296" "04172" "00317550" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241297" "04172" "00317551" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241298" "04172" "00317552" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241299" "04172" "00317553" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241300" "04172" "00317554" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241301" "04172" "00317555" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241302" "04172" "00317556" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241303" "04172" "00317557" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241304" "04172" "00317558" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241305" "04172" "00317559" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241306" "04172" "00317560" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241307" "04172" "00317561" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241308" "04172" "00317562" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241309" "04172" "00317563" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241310" "04172" "00317564" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241311" "04172" "00317565" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241312" "04172" "00317566" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241313" "04172" "00317567" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241314" "04172" "00317568" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241315" "04172" "00317569" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "" "0000241597" "04172" "00317851" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000335983" "04173" "00446779" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000341804" "04172" "00453158" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" "" "0000341873" "04172" "00453227" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 86 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064208" "00064075" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064218" "00064085" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064227" "00064094" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000064332" "00064199" "1" "00006" "00006" "2016-04-27 08:53:12" "" "" "SEQ" "DNA" "" "" "0000109098" "00108633" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000164611" "00163746" "1" "02444" "02444" "2018-04-06 12:16:14" "00006" "2018-05-11 17:03:27" "SEQ" "DNA" "" "" "0000164749" "00163885" "1" "02438" "02438" "2018-04-22 18:36:33" "" "" "SEQ-NG" "DNA" "" "Dutch core cardiomyopathy panel" "0000211284" "00210208" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211285" "00210209" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211286" "00210210" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211287" "00210211" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-27 20:16:44" "PCR;SEQ;SSCA" "DNA" "" "" "0000211288" "00210212" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211289" "00210213" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211290" "00210214" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211291" "00210215" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211292" "00210216" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211293" "00210217" "1" "00006" "00006" "2012-03-18 21:48:19" "00006" "2012-03-26 16:00:39" "SEQ" "DNA" "" "" "0000211294" "00210218" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211295" "00210219" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211296" "00210220" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211297" "00210221" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211298" "00210222" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211299" "00210223" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "PCR;SEQ;SSCA" "DNA" "" "" "0000211300" "00210224" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211301" "00210225" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211302" "00210226" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211303" "00210227" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211304" "00210228" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211305" "00210229" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "PCR;SEQ;SSCA" "DNA" "" "" "0000211306" "00210230" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "SEQ;SSCA" "DNA" "" "" "0000211307" "00210231" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "SEQ;SSCA" "DNA" "" "" "0000211308" "00210232" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "SEQ;SSCA" "DNA" "" "" "0000211309" "00210233" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "SEQ;SSCA" "DNA" "" "" "0000211310" "00210234" "1" "00006" "00006" "2012-03-26 16:34:46" "" "" "SEQ" "DNA" "" "" "0000211311" "00210235" "1" "00006" "00006" "2012-03-26 16:34:45" "" "" "SEQ" "DNA" "" "" "0000211312" "00210236" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211313" "00210237" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211314" "00210238" "1" "00006" "00006" "2010-07-23 17:13:31" "00006" "2012-03-04 15:57:47" "SEQ" "DNA" "" "" "0000211315" "00210239" "1" "00006" "00006" "2012-03-26 16:34:46" "" "" "SEQ" "DNA" "" "" "0000211316" "00210240" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211317" "00210241" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211318" "00210242" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211319" "00210243" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211320" "00210244" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211321" "00210245" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211322" "00210246" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211323" "00210247" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211324" "00210248" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000211325" "00210249" "1" "00006" "00006" "2012-11-07 11:14:24" "" "" "SEQ" "DNA" "" "" "0000220167" "00219095" "1" "02588" "02588" "2019-02-05 12:46:35" "" "" "SEQ-NG" "DNA" "blood" "" "0000296424" "00295256" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297829" "00296719" "1" "00006" "00006" "2020-04-11 10:26:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000317877" "00316695" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317878" "00316696" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317879" "00316697" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317880" "00316698" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317881" "00316699" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317882" "00316700" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000317883" "00316701" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318729" "00317547" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318730" "00317548" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318731" "00317549" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318732" "00317550" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318733" "00317551" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318734" "00317552" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318735" "00317553" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318736" "00317554" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318737" "00317555" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318738" "00317556" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318739" "00317557" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318740" "00317558" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318741" "00317559" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318742" "00317560" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318743" "00317561" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318744" "00317562" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318745" "00317563" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318746" "00317564" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318747" "00317565" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318748" "00317566" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318749" "00317567" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318750" "00317568" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000318751" "00317569" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319033" "00317851" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000448354" "00446779" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454769" "00453158" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000454838" "00453227" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 81 "{{screeningid}}" "{{geneid}}" "0000064208" "TTN" "0000064218" "TTN" "0000064227" "TTN" "0000064332" "TTN" "0000164611" "MYL2" "0000164611" "NEB" "0000211284" "MYL2" "0000211285" "MYL2" "0000211286" "MYL2" "0000211287" "MYL2" "0000211288" "MYL2" "0000211289" "MYL2" "0000211290" "MYL2" "0000211291" "MYL2" "0000211292" "MYL2" "0000211293" "MYL2" "0000211294" "MYL2" "0000211295" "MYL2" "0000211296" "MYL2" "0000211297" "MYL2" "0000211298" "MYL2" "0000211299" "MYL2" "0000211300" "MYL2" "0000211301" "MYL2" "0000211302" "MYL2" "0000211303" "MYL2" "0000211304" "MYL2" "0000211305" "MYL2" "0000211306" "MYL2" "0000211307" "MYL2" "0000211308" "MYL2" "0000211309" "MYL2" "0000211310" "MYL2" "0000211311" "MYL2" "0000211312" "MYL2" "0000211313" "MYL2" "0000211314" "MYL2" "0000211315" "MYL2" "0000211316" "MYL2" "0000211317" "MYL2" "0000211318" "MYL2" "0000211319" "MYL2" "0000211320" "MYL2" "0000211321" "MYL2" "0000211322" "MYL2" "0000211323" "MYL2" "0000211324" "MYL2" "0000211325" "MYL2" "0000220167" "MYL2" "0000297829" "MYL2" "0000317877" "MYL2" "0000317878" "MYL2" "0000317879" "MYL2" "0000317880" "MYL2" "0000317881" "MYL2" "0000317882" "MYL2" "0000317883" "MYL2" "0000318729" "MYL2" "0000318730" "MYL2" "0000318731" "MYL2" "0000318732" "MYL2" "0000318733" "MYL2" "0000318734" "MYL2" "0000318735" "MYL2" "0000318736" "MYL2" "0000318737" "MYL2" "0000318738" "MYL2" "0000318739" "MYL2" "0000318740" "MYL2" "0000318741" "MYL2" "0000318742" "MYL2" "0000318743" "MYL2" "0000318744" "MYL2" "0000318745" "MYL2" "0000318746" "MYL2" "0000318747" "MYL2" "0000318748" "MYL2" "0000318749" "MYL2" "0000318750" "MYL2" "0000318751" "MYL2" "0000319033" "MYL2" ## 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 = 263 "{{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}}" "0000095211" "0" "50" "12" "111350901" "111350901" "subst" "0.000190849" "00006" "MYL2_000014" "g.111350901T>G" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000432:c.A401C" "" "Germline" "" "" "0" "" "" "g.110913097T>G" "" "VUS" "" "0000095248" "0" "50" "12" "111356964" "111356964" "subst" "0.000373713" "00006" "MYL2_000001" "g.111356964C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000432:c.G37A" "" "Germline" "" "" "0" "" "" "g.110919160C>T" "" "VUS" "" "0000095284" "0" "50" "12" "111356964" "111356964" "subst" "0.000373713" "00006" "MYL2_000001" "g.111356964C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000432:c.G37A" "" "Germline" "" "" "0" "" "" "g.110919160C>T" "" "VUS" "" "0000095656" "0" "50" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "1/223 cases HCM" "{PMID:Lopes 2013:23396983}, {DOI:Lopes 2013:10.1136/jmedgenet-2012-101270}" "" "NM_000432:c.G64A" "" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "VUS" "" "0000175167" "1" "90" "12" "111350901" "111350901" "subst" "0.000190849" "01401" "MYL2_000014" "g.111350901T>G" "reads 0.51" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.110913097T>G" "" "pathogenic" "" "0000175201" "1" "90" "12" "111352058" "111352058" "subst" "0" "01401" "MYL2_000065" "g.111352058A>G" "reads 0.46" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "NCBI reference KU319885" "Germline" "" "" "0" "" "" "g.110914254A>G" "" "pathogenic" "" "0000247068" "0" "10" "12" "111353556" "111353556" "subst" "0.100487" "02330" "MYL2_000015" "g.111353556A>G" "" "" "" "MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110915752A>G" "" "benign" "" "0000247077" "0" "10" "12" "111352113" "111352113" "subst" "0.000837603" "02330" "MYL2_000060" "g.111352113A>G" "" "" "" "MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914309A>G" "" "benign" "" "0000247174" "0" "90" "12" "111348950" "111348950" "del" "0" "02330" "MYL2_000059" "g.111348950del" "" "" "" "MYL2(NM_000432.4):c.432delT (p.D145Tfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110911146del" "" "pathogenic" "" "0000247834" "0" "10" "12" "111353556" "111353556" "subst" "0.100487" "02325" "MYL2_000015" "g.111353556A>G" "" "" "" "MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110915752A>G" "" "benign" "" "0000248051" "0" "30" "12" "111352113" "111352113" "subst" "0.000837603" "02325" "MYL2_000060" "g.111352113A>G" "" "" "" "MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914309A>G" "" "likely benign" "" "0000249557" "0" "30" "12" "111351970" "111351970" "subst" "0" "02325" "MYL2_000038" "g.111351970A>G" "" "" "" "MYL2(NM_000432.4):c.274+20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914166A>G" "" "likely benign" "" "0000250616" "0" "10" "12" "111353556" "111353556" "subst" "0.100487" "02326" "MYL2_000015" "g.111353556A>G" "" "" "" "MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110915752A>G" "" "benign" "" "0000252968" "0" "10" "12" "111353556" "111353556" "subst" "0.100487" "01943" "MYL2_000015" "g.111353556A>G" "" "" "" "MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110915752A>G" "" "benign" "" "0000253312" "0" "10" "12" "111352113" "111352113" "subst" "0.000837603" "01943" "MYL2_000060" "g.111352113A>G" "" "" "" "MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914309A>G" "" "benign" "" "0000253854" "0" "10" "12" "111351003" "111351003" "subst" "2.48932E-5" "01943" "MYL2_000026" "g.111351003A>G" "" "" "" "MYL2(NM_000432.3):c.353+47T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913199A>G" "" "benign" "" "0000292759" "0" "10" "12" "111352042" "111352042" "subst" "3.24844E-5" "02330" "MYL2_000049" "g.111352042C>T" "" "" "" "MYL2(NM_000432.4):c.222G>A (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914238C>T" "" "benign" "" "0000292760" "0" "10" "12" "111351977" "111351977" "subst" "0" "02330" "MYL2_000044" "g.111351977C>T" "" "" "" "MYL2(NM_000432.4):c.274+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914173C>T" "" "benign" "" "0000292761" "0" "10" "12" "111351974" "111351975" "ins" "0" "02330" "MYL2_000042" "g.111351974_111351975insGA" "" "" "" "MYL2(NM_000432.3):c.274+16_274+17insCT, MYL2(NM_000432.4):c.274+15delGinsGTC, MYL2(NM_000432.4):c.274+16_274+17insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914170_110914171insGA" "" "benign" "" "0000292767" "0" "10" "12" "111351142" "111351142" "subst" "5.27932E-5" "02330" "MYL2_000034" "g.111351142C>G" "" "" "" "MYL2(NM_000432.4):c.275-14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913338C>G" "" "benign" "" "0000292768" "0" "10" "12" "111351144" "111351144" "subst" "4.06105E-6" "02330" "MYL2_000035" "g.111351144G>C" "" "" "" "MYL2(NM_000432.4):c.275-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913340G>C" "" "benign" "" "0000292770" "0" "10" "12" "111351124" "111351124" "subst" "0.000259884" "02330" "MYL2_000033" "g.111351124C>T" "" "" "" "MYL2(NM_000432.3):c.279G>A (p.A93=), MYL2(NM_000432.4):c.279G>A (p.A93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913320C>T" "" "benign" "" "0000292771" "0" "10" "12" "111351034" "111351034" "del" "0" "02330" "MYL2_000029" "g.111351034del" "" "" "" "MYL2(NM_000432.3):c.353+20delG, MYL2(NM_000432.4):c.353+20delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913230del" "" "benign" "" "0000292773" "0" "30" "12" "111356964" "111356964" "subst" "0.000373713" "02330" "MYL2_000001" "g.111356964C>T" "" "" "" "MYL2(NM_000432.3):c.37G>A (p.A13T), MYL2(NM_000432.4):c.37G>A (p.A13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919160C>T" "" "likely benign" "" "0000292775" "0" "10" "12" "111350921" "111350921" "subst" "0.00113289" "02330" "MYL2_000069" "g.111350921C>T" "" "" "" "MYL2(NM_000432.3):c.381G>A (p.A127=), MYL2(NM_000432.4):c.381G>A (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913117C>T" "" "benign" "" "0000292776" "0" "10" "12" "111357011" "111357011" "subst" "0.00962144" "02330" "MYL2_000054" "g.111357011G>A" "" "" "" "MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919207G>A" "" "benign" "" "0000292777" "0" "10" "12" "111357011" "111357011" "del" "0.00028609" "02330" "MYL2_000055" "g.111357011del" "" "" "" "MYL2(NM_000432.3):c.4-14delC, MYL2(NM_000432.4):c.4-14delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919207del" "" "benign" "" "0000292779" "0" "10" "12" "111357015" "111357018" "del" "0" "02330" "MYL2_000057" "g.111357015_111357018del" "" "" "" "MYL2(NM_000432.4):c.4-19_4-16delCGAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919211_110919214del" "" "benign" "" "0000292780" "0" "50" "12" "111350901" "111350901" "subst" "0.000190849" "02330" "MYL2_000014" "g.111350901T>G" "" "" "" "MYL2(NM_000432.3):c.401A>C (p.E134A), MYL2(NM_000432.4):c.401A>C (p.E134A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913097T>G" "" "VUS" "" "0000292781" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "02330" "MYL2_000003" "g.111356937C>T" "" "" "" "MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000292782" "0" "30" "12" "111356987" "111356993" "del" "0" "02330" "MYL2_000053" "g.111356987_111356993del" "" "" "" "MYL2(NM_000432.4):c.8_14delCTAAGAA (p.P3Qfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919183_110919189del" "" "likely benign" "" "0000296183" "0" "30" "12" "111352042" "111352042" "subst" "3.24844E-5" "02325" "MYL2_000049" "g.111352042C>T" "" "" "" "MYL2(NM_000432.4):c.222G>A (p.P74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914238C>T" "" "likely benign" "" "0000296184" "0" "30" "12" "111351974" "111351975" "ins" "0" "02325" "MYL2_000042" "g.111351974_111351975insGA" "" "" "" "MYL2(NM_000432.3):c.274+16_274+17insCT, MYL2(NM_000432.4):c.274+15delGinsGTC, MYL2(NM_000432.4):c.274+16_274+17insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914170_110914171insGA" "" "likely benign" "" "0000296186" "0" "30" "12" "111351036" "111351036" "subst" "0" "02325" "MYL2_000031" "g.111351036C>T" "" "" "" "MYL2(NM_000432.4):c.353+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913232C>T" "" "likely benign" "" "0000296187" "0" "10" "12" "111351034" "111351034" "del" "0" "02325" "MYL2_000029" "g.111351034del" "" "" "" "MYL2(NM_000432.3):c.353+20delG, MYL2(NM_000432.4):c.353+20delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913230del" "" "benign" "" "0000296188" "0" "30" "12" "111351034" "111351034" "subst" "8.56053E-5" "02325" "MYL2_000030" "g.111351034C>T" "" "" "" "MYL2(NM_000432.3):c.353+16G>A, MYL2(NM_000432.4):c.353+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913230C>T" "" "likely benign" "" "0000296189" "0" "30" "12" "111350966" "111350966" "subst" "4.46708E-5" "02325" "MYL2_000022" "g.111350966C>T" "" "" "" "MYL2(NM_000432.3):c.354-18G>A, MYL2(NM_000432.4):c.354-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913162C>T" "" "likely benign" "" "0000296190" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "02325" "MYL2_000003" "g.111356937C>T" "" "" "" "MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000299751" "0" "30" "12" "111351982" "111351982" "subst" "5.6862E-5" "02326" "MYL2_000047" "g.111351982G>A" "" "" "" "MYL2(NM_000432.3):c.274+8C>T, MYL2(NM_000432.4):c.274+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914178G>A" "" "likely benign" "" "0000299752" "0" "10" "12" "111351034" "111351034" "del" "0" "02326" "MYL2_000016" "g.111351034del" "" "" "" "MYL2(NM_000432.3):c.353+20delG, MYL2(NM_000432.4):c.353+20delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913230del" "" "benign" "" "0000299753" "0" "70" "12" "111350944" "111350944" "subst" "0" "02326" "MYL2_000021" "g.111350944G>A" "" "" "" "MYL2(NM_000432.3):c.358C>T (p.R120W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913140G>A" "" "likely pathogenic" "" "0000299754" "0" "10" "12" "111357011" "111357011" "subst" "0.00962144" "02326" "MYL2_000054" "g.111357011G>A" "" "" "" "MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919207G>A" "" "benign" "" "0000299755" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "02326" "MYL2_000003" "g.111356937C>T" "" "" "" "MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000302526" "0" "50" "12" "111352059" "111352059" "subst" "0" "01943" "MYL2_000050" "g.111352059T>C" "" "" "" "MYL2(NM_000432.3):c.205A>G (p.M69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914255T>C" "" "VUS" "" "0000302527" "0" "70" "12" "111352017" "111352017" "subst" "0" "01943" "MYL2_000048" "g.111352017G>A" "" "" "" "MYL2(NM_000432.3):c.247C>T (p.L83F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914213G>A" "" "likely pathogenic" "" "0000302529" "0" "10" "12" "111351973" "111351973" "subst" "0" "01943" "MYL2_000041" "g.111351973C>G" "" "" "" "MYL2(NM_000432.3):c.274+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110914169C>G" "" "benign" "" "0000302531" "0" "10" "12" "111351124" "111351124" "subst" "0.000259884" "01943" "MYL2_000033" "g.111351124C>T" "" "" "" "MYL2(NM_000432.3):c.279G>A (p.A93=), MYL2(NM_000432.4):c.279G>A (p.A93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913320C>T" "" "benign" "" "0000302532" "0" "90" "12" "111351117" "111351117" "subst" "0" "01943" "MYL2_000032" "g.111351117C>T" "" "" "" "MYL2(NM_000432.3):c.286G>A (p.E96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913313C>T" "" "pathogenic" "" "0000302533" "0" "10" "12" "111351034" "111351034" "subst" "8.56053E-5" "01943" "MYL2_000030" "g.111351034C>T" "" "" "" "MYL2(NM_000432.3):c.353+16G>A, MYL2(NM_000432.4):c.353+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913230C>T" "" "benign" "" "0000302534" "0" "10" "12" "111351034" "111351034" "del" "0" "01943" "MYL2_000016" "g.111351034del" "" "" "" "MYL2(NM_000432.3):c.353+20delG, MYL2(NM_000432.4):c.353+20delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913230del" "" "benign" "" "0000302535" "0" "10" "12" "111351008" "111351008" "dup" "0" "01943" "MYL2_000027" "g.111351008dup" "" "" "" "MYL2(NM_000432.3):c.353+46dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913204dup" "" "benign" "" "0000302537" "0" "10" "12" "111350999" "111350999" "subst" "0" "01943" "MYL2_000023" "g.111350999G>T" "" "" "" "MYL2(NM_000432.3):c.354-51C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913195G>T" "" "benign" "" "0000302538" "0" "10" "12" "111350999" "111350999" "subst" "0" "01943" "MYL2_000018" "g.111350999G>A" "" "" "" "MYL2(NM_000432.3):c.354-51C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913195G>A" "" "benign" "" "0000302539" "0" "90" "12" "111350926" "111350926" "subst" "0" "01943" "MYL2_000024" "g.111350926G>A" "" "" "" "MYL2(NM_000432.3):c.376C>T (p.Q126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913122G>A" "" "pathogenic" "" "0000302540" "0" "10" "12" "111350921" "111350921" "subst" "0.00113289" "01943" "MYL2_000069" "g.111350921C>T" "" "" "" "MYL2(NM_000432.3):c.381G>A (p.A127=), MYL2(NM_000432.4):c.381G>A (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110913117C>T" "" "benign" "" "0000302541" "0" "10" "12" "111357011" "111357011" "subst" "0.00962144" "01943" "MYL2_000054" "g.111357011G>A" "" "" "" "MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919207G>A" "" "benign" "" "0000302542" "0" "50" "12" "111348961" "111348961" "subst" "0" "01943" "MYL2_000067" "g.111348961C>T" "" "" "" "MYL2(NM_000432.3):c.421G>A (p.A141T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110911157C>T" "" "VUS" "" "0000302543" "0" "50" "12" "111348913" "111348913" "subst" "0" "01943" "MYL2_000066" "g.111348913G>C" "" "" "" "MYL2(NM_000432.3):c.469C>G (p.H157D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110911109G>C" "" "VUS" "" "0000302544" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "01943" "MYL2_000003" "g.111356937C>T" "" "" "" "MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000367860" "3" "90" "12" "111352080" "111352080" "del" "0" "02444" "MYL2_000058" "g.111352080del" "" "Congenital fiber type disproportion with cardiomyopathy associated with variants in MYL2 and NEB Marttila, M., Al Ghamdi, F., Abdel-Hamid, H., Lacomis, D., Beggs, A. H." "" "" "" "Germline" "" "" "0" "" "" "g.110914276del" "" "pathogenic" "" "0000368331" "3" "90" "12" "111350926" "111350926" "subst" "0" "02438" "MYL2_000024" "g.111350926G>A" "" "{PMID:Verhagen 2018:29988065}, {DOI:Verhagen 2018:10.1038/s41431-018-0208-1}" "" "" "" "Germline" "yes" "" "0" "" "" "g.110913122G>A" "" "pathogenic" "" "0000442755" "1" "70" "12" "111356964" "111356964" "subst" "0.000373713" "00006" "MYL2_000001" "g.111356964C>T" "" "{PMID:Poetter 1996:08673105}, {OMIM160781:0001}" "" "" "not in 378 control/790 CMH chromosomes; may disrupt the phosphorylation site" "Germline" "" "" "0" "" "" "g.110919160C>T" "" "likely pathogenic" "" "0000442756" "1" "90" "12" "111356949" "111356949" "subst" "0" "00006" "MYL2_000002" "g.111356949A>G" "" "{PMID:Flavigny 1998:09535554}, {OMIM160781:0005}" "AspH1+" "T52C" "not in 200 normal chromosomes; may disrupt the phosphorylation site" "Germline" "" "rs28932774" "0" "" "" "g.110919145A>G" "" "pathogenic" "" "0000442757" "1" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Poetter 1996:08673105}, {OMIM160781:0002}" "" "(Glu22Leu)" "not in 378 control/790 CMH chromosomes; may disrupt the phosphorylation site" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000442758" "1" "90" "12" "111353547" "111353547" "subst" "0.000174653" "00006" "MYL2_000004" "g.111353547G>T" "" "{PMID:Andersen 2001:11748309}, {PMID:Hougs 2005:15483641}" "" "C>A (Asn47Lys)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.110915743G>T" "" "pathogenic" "" "0000442759" "1" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Flavigny 1998:09535554}, {OMIM160781:0004}" "" "G173A" "not in 200 normal chromosomes; Mg2+ binding site disrupted" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000442760" "11" "70" "12" "111348980" "111348980" "subst" "4.52653E-5" "00006" "MYL2_000009" "g.111348980C>G" "" "{PMID:Andersen 2001:11748309}" "" "IVS6-1G>C" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.110911176C>G" "" "likely pathogenic" "" "0000442761" "21" "50" "12" "111351093" "111351093" "subst" "4.06055E-6" "00006" "MYL2_000011" "g.111351093T>C" "" "{PMID:Andersen 2001:11748309}" "" "g8486A>G (Lys103Glu)" "not in 300 control chromosomes" "Germline" "" "" "0" "" "" "g.110913289T>C" "" "VUS" "" "0000442762" "1" "90" "12" "111351120" "111351120" "subst" "0" "00006" "MYL2_000007" "g.111351120G>C" "" "{PMID:Poetter 1996:08673105}, {OMIM160781:0003}" "" "(Pro95Arg)" "not in 378 control/790 CMH chromosomes; may disrupt the phosphorylation site" "Germline" "" "" "0" "" "" "g.110913316G>C" "" "pathogenic" "" "0000442763" "1" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Flavigny 1998:09535554}, {OMIM160781:0004}" "" "G173A" "not in 200 normal chromosomes; Mg2+ binding site disrupted" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000442764" "1" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Poetter 1996:08673105}, {OMIM160781:0002}" "" "(Glu22Leu)" "not in 378 control/790 CMH chromosomes; may disrupt the phosphorylation site" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000442765" "21" "90" "12" "111352094" "111352094" "subst" "4.06141E-6" "00006" "MYL2_000020" "g.111352094C>T" "" "{PMID:Caleshu 2011:21823217}" "" "" "not in 380 control chromosomes" "Germline" "" "" "0" "" "" "g.110914290C>T" "" "pathogenic" "" "0000442766" "1" "90" "12" "111356964" "111356964" "subst" "0.000373713" "00006" "MYL2_000001" "g.111356964C>T" "" "{PMID:Andersen 2001:11748309}, {PMID:Hougs 2005:15483641}, {PMID:Andersen 2009:19035361}" "" "G>A (Ala13Thr)" "not in 300 control chromosomes; segregates" "Germline" "" "" "0" "" "" "g.110919160C>T" "" "pathogenic" "" "0000442767" "0" "10" "12" "111357010" "111357010" "subst" "0" "00006" "MYL2_000012" "g.111357010A>G" "" "{PMID:Andersen 2001:11748309}" "" "g2579C>T (L01652 ?)" "" "Germline" "" "" "0" "" "" "g.110919206A>G" "" "benign" "" "0000442768" "0" "10" "12" "111353553" "111353553" "subst" "0" "00006" "MYL2_000013" "g.111353553G>A" "" "{PMID:Andersen 2001:11748309}" "" "g6027T>C (L01652 ?)" "" "Germline" "" "" "0" "" "" "g.110915749G>A" "" "benign" "" "0000442769" "0" "10" "12" "111351186" "111351186" "subst" "0" "00006" "MYL2_000014" "g.111351186C>T" "" "{PMID:Andersen 2001:11748309}" "" "g8393G>A (L01652 ?)" "" "Germline" "" "" "0" "" "" "g.110913382C>T" "" "benign" "" "0000442770" "1" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Kabaeva 2002:12404107}, {OMIM160781:0004}" "" "" "not in 210 control chromosomes" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000442771" "1" "70" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Kabaeva 2002:12404107}, {OMIM160781:0002}" "TaqI-" "(Glu22Lys)" "not in 210 control chromosomes" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "likely pathogenic" "" "0000442772" "0" "10" "12" "111353556" "111353556" "subst" "0.100487" "00006" "MYL2_000015" "g.111353556A>G" "1/372 chromosomes" "{PMID:Kabaeva 2002:12404107}" "" "Ile44Ile" "" "Germline" "" "" "0" "" "" "g.110915752A>G" "" "benign" "" "0000442773" "0" "10" "12" "111351186" "111351186" "subst" "0" "00006" "MYL2_000014" "g.111351186C>T" "1/372 chromosomes" "{PMID:Kabaeva 2002:12404107}" "" "IVS4-58G>A" "" "Germline" "" "" "0" "" "" "g.110913382C>T" "" "benign" "" "0000442774" "0" "10" "12" "111351034" "111351034" "del" "0" "00006" "MYL2_000016" "g.111351034del" "1/372 chromosomes" "{PMID:Kabaeva 2002:12404107}" "" "IVS5+20delG" "" "Germline" "" "" "0" "" "" "g.110913230del" "" "benign" "" "0000442775" "0" "10" "12" "111351989" "111351989" "subst" "0" "00006" "MYL2_000017" "g.111351989C>G" "" "{PMID:Kabaeva 2002:12404107}" "" "IVS4+17G>C" "" "Germline" "" "" "0" "" "" "g.110914185C>G" "" "benign" "" "0000442776" "0" "10" "12" "111350999" "111350999" "subst" "0" "00006" "MYL2_000018" "g.111350999G>A" "" "{PMID:Kabaeva 2002:12404107}" "" "IVS5-61insC" "" "Germline" "" "" "0" "" "" "g.110913195G>A" "" "benign" "" "0000442777" "0" "10" "12" "111351008" "111351008" "dup" "0" "00006" "MYL2_000019" "g.111351008dup" "" "{PMID:Kabaeva 2002:12404107}" "" "IVS5-51C>T/A" "" "Germline" "" "" "0" "" "" "g.110913204dup" "" "benign" "" "0000442778" "1" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "1/124 familial CMH" "{PMID:Richard 2003:12707239}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000442779" "1" "90" "12" "111350950" "111350950" "subst" "0" "00006" "MYL2_000008" "g.111350950T>C" "1/124 familial CMH" "{PMID:Richard 2003:12707239}" "" "IVS5-2A>G" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.110913146T>C" "" "pathogenic" "" "0000442780" "1" "90" "12" "111348885" "111348885" "subst" "0" "00006" "MYL2_000010" "g.111348885T>A" "1/124 familial CMH" "{PMID:Richard 2003:12707239}" "" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.110911081T>A" "" "pathogenic" "" "0000442781" "1" "90" "12" "111356949" "111356949" "subst" "0" "00006" "MYL2_000002" "g.111356949A>G" "1/124 familial CMH" "{PMID:Richard 2003:12707239}" "" "" "not in 200 control chromosomes" "Germline" "" "rs28932774" "0" "" "" "g.110919145A>G" "" "pathogenic" "" "0000442782" "11" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Garcia-Pavia 2011:21896538}" "" "(Glu22Lys)" "" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000442783" "21" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Garcia-Pavia 2011:21896538}" "" "(Glu22Lys)" "" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000442784" "1" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Morner 2003:12818575}" "" "" "" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000442785" "1" "90" "12" "111350901" "111350901" "subst" "0.000190849" "00006" "MYL2_000014" "g.111350901T>G" "" "{PMID:Olivotto 2008:18533079}" "" "" "" "Germline" "" "" "0" "" "" "g.110913097T>G" "" "pathogenic" "" "0000442786" "1" "90" "12" "111348898" "111348898" "subst" "0" "00006" "MYL2_000013" "g.111348898C>T" "" "{PMID:Olivotto 2008:18533079}" "" "" "" "Germline" "" "" "0" "" "" "g.110911094C>T" "" "pathogenic" "" "0000442787" "1" "90" "12" "111356943" "111356943" "subst" "0" "00006" "MYL2_000012" "g.111356943T>G" "" "{PMID:Olivotto 2008:18533079}" "" "" "" "Germline" "" "" "0" "" "" "g.110919139T>G" "" "pathogenic" "" "0000442788" "1" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Olivotto 2008:18533079}" "" "" "" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000442789" "0" "90" "12" "111353547" "111353547" "subst" "0.000174653" "00006" "MYL2_000004" "g.111353547G>T" "" "{PMID:Andersen 2001:11748309}" "" "" "" "Germline" "" "" "0" "" "" "g.110915743G>T" "" "pathogenic" "" "0000442790" "0" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Flavigny 1998:09535554}" "" "" "" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000442791" "0" "90" "12" "111351120" "111351120" "subst" "0" "00006" "MYL2_000007" "g.111351120G>C" "" "{PMID:Poetter 1996:08673105}" "" "" "" "Germline" "" "" "0" "" "" "g.110913316G>C" "" "pathogenic" "" "0000442792" "0" "90" "12" "111351093" "111351093" "subst" "4.06055E-6" "00006" "MYL2_000011" "g.111351093T>C" "" "{PMID:Andersen 2001:11748309}" "" "" "" "Germline" "" "" "0" "" "" "g.110913289T>C" "" "pathogenic" "" "0000442793" "0" "90" "12" "111356964" "111356964" "subst" "0.000373713" "00006" "MYL2_000001" "g.111356964C>T" "" "{PMID:Poetter 1996:08673105}" "" "" "" "Germline" "" "rs104894363" "0" "" "" "g.110919160C>T" "" "pathogenic" "" "0000442794" "0" "90" "12" "111350901" "111350901" "subst" "0.000190849" "00006" "MYL2_000014" "g.111350901T>G" "" "{PMID:Olivotto 2008:18533079}" "" "" "" "Germline" "" "rs143139258" "0" "" "" "g.110913097T>G" "" "pathogenic" "" "0000442795" "0" "90" "12" "111348898" "111348898" "subst" "0" "00006" "MYL2_000013" "g.111348898C>T" "" "{PMID:Olivotto 2008:18533079}" "" "" "" "Germline" "" "" "0" "" "" "g.110911094C>T" "" "pathogenic" "" "0000442796" "0" "90" "12" "111348885" "111348885" "subst" "0" "00006" "MYL2_000010" "g.111348885T>A" "" "{PMID:Richard 2003:12707239}" "" "" "" "Germline" "" "" "0" "" "" "g.110911081T>A" "" "pathogenic" "" "0000442797" "0" "90" "12" "111356949" "111356949" "subst" "0" "00006" "MYL2_000002" "g.111356949A>G" "" "{PMID:Flavigny 1998:09535554}" "" "" "" "Germline" "" "rs28932774" "0" "" "" "g.110919145A>G" "" "pathogenic" "" "0000442798" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Poetter 1996:08673105}" "" "" "" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000442799" "0" "50" "12" "111356949" "111356949" "subst" "0" "00006" "MYL2_000002" "g.111356949A>G" "" "{PMID:Szczesna 2001:11102452}" "" "" "in vitro expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110919145A>G" "" "NA" "" "0000442800" "0" "50" "12" "111351120" "111351120" "subst" "0" "00006" "MYL2_000007" "g.111351120G>C" "" "{PMID:Szczesna 2001:11102452}" "" "" "in vitro expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110913316G>C" "" "NA" "" "0000442801" "0" "70" "12" "111356964" "111356964" "subst" "0.000373713" "00006" "MYL2_000001" "g.111356964C>T" "" "{PMID:Szczesna 2001:11102452}" "" "" "in vitro expression cloning, 3x reduced Ca2+ binding properties, phosphorylation increases Ca2+ binding" "In vitro (cloned)" "" "" "0" "" "" "g.110919160C>T" "" "NA" "" "0000442802" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Szczesna 2001:11102452}" "" "" "in vitro expression cloning, 17x reduced Ca2+ binding properties, no phosphorylation" "In vitro (cloned)" "" "" "0" "" "" "g.110919133C>T" "" "NA" "" "0000442803" "0" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Szczesna 2001:11102452}" "" "" "in vitro expression cloning, no Ca2+ binding" "In vitro (cloned)" "" "" "0" "" "" "g.110914287C>T" "" "NA" "" "0000442804" "1" "70" "12" "111356964" "111356964" "subst" "0.000373713" "00006" "MYL2_000001" "g.111356964C>T" "" "{PMID:Szczesna-Cordary:14594949}" "" "" "expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110919160C>T" "" "NA" "" "0000442805" "1" "70" "12" "111356949" "111356949" "subst" "0" "00006" "MYL2_000002" "g.111356949A>G" "" "{PMID:Szczesna-Cordary:14594949}" "" "" "expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110919145A>G" "" "NA" "" "0000442806" "1" "70" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "" "{PMID:Szczesna-Cordary:14594949}" "" "(Glu22Leu)" "expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110919133C>T" "" "NA" "" "0000442807" "1" "70" "12" "111351120" "111351120" "subst" "0" "00006" "MYL2_000007" "g.111351120G>C" "" "{PMID:Szczesna-Cordary:14594949}" "" "(Pro95Arg)" "expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110913316G>C" "" "NA" "" "0000442808" "1" "90" "12" "111353547" "111353547" "subst" "0.000174653" "00006" "MYL2_000004" "g.111353547G>T" "" "{PMID:Szczesna-Cordary:14594949}" "" "" "expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110915743G>T" "" "NA" "" "0000442809" "1" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "" "{PMID:Szczesna-Cordary:14594949}" "" "" "expression cloning" "In vitro (cloned)" "" "" "0" "" "" "g.110914287C>T" "" "NA" "" "0000455082" "0" "70" "12" "111348897" "111348897" "subst" "0" "02588" "MYL2_000070" "g.111348897C>T" "" "{PMID:Renaudin 2018:29549657}" "" "" "" "Unknown" "yes" "rs397516406" "0" "" "" "g.110911093C>T" "" "pathogenic" "" "0000546503" "0" "10" "12" "111348550" "111348550" "subst" "0" "02327" "CCDC63_000001" "g.111348550C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110910746C>G" "" "benign" "" "0000546504" "0" "10" "12" "111348639" "111348639" "subst" "0" "02327" "CCDC63_000002" "g.111348639C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110910835C>T" "" "benign" "" "0000546505" "0" "10" "12" "111348640" "111348640" "subst" "0" "02327" "CCDC63_000003" "g.111348640G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110910836G>A" "" "benign" "" "0000546506" "0" "30" "12" "111348709" "111348709" "subst" "0" "02327" "CCDC63_000004" "g.111348709C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110910905C>T" "" "likely benign" "" "0000546507" "0" "30" "12" "111348718" "111348718" "subst" "0" "02327" "CCDC63_000005" "g.111348718A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110910914A>G" "" "likely benign" "" "0000546508" "0" "30" "12" "111348754" "111348754" "subst" "0" "02327" "CCDC63_000006" "g.111348754G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110910950G>A" "" "likely benign" "" "0000546509" "0" "30" "12" "111348779" "111348779" "subst" "0" "02327" "CCDC63_000007" "g.111348779G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110910975G>T" "" "likely benign" "" "0000546510" "0" "90" "12" "111348899" "111348899" "subst" "0" "02325" "CCDC63_000008" "g.111348899G>T" "" "" "" "MYL2(NM_000432.3):c.483C>A (p.H161Q), MYL2(NM_000432.4):c.483C>A (p.H161Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911095G>T" "" "pathogenic" "" "0000546511" "0" "50" "12" "111348952" "111348952" "subst" "4.10425E-6" "02330" "CCDC63_000009" "g.111348952G>A" "" "" "" "MYL2(NM_000432.4):c.430C>T (p.P144S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911148G>A" "" "VUS" "" "0000546512" "0" "50" "12" "111348963" "111348963" "subst" "0" "02327" "CCDC63_000010" "g.111348963G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911159G>A" "" "VUS" "" "0000546513" "0" "90" "12" "111348980" "111348980" "subst" "4.52653E-5" "02330" "MYL2_000009" "g.111348980C>G" "" "" "" "MYL2(NM_000432.3):c.403-1G>C, MYL2(NM_000432.4):c.403-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911176C>G" "" "pathogenic" "" "0000546514" "0" "90" "12" "111348980" "111348980" "subst" "4.52653E-5" "01943" "MYL2_000009" "g.111348980C>G" "" "" "" "MYL2(NM_000432.3):c.403-1G>C, MYL2(NM_000432.4):c.403-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911176C>G" "" "pathogenic" "" "0000546515" "0" "90" "12" "111348980" "111348980" "subst" "4.52653E-5" "02327" "MYL2_000009" "g.111348980C>G" "" "" "" "MYL2(NM_000432.3):c.403-1G>C, MYL2(NM_000432.4):c.403-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911176C>G" "" "pathogenic" "" "0000546516" "0" "90" "12" "111348980" "111348980" "subst" "4.52653E-5" "02325" "MYL2_000009" "g.111348980C>G" "" "" "" "MYL2(NM_000432.3):c.403-1G>C, MYL2(NM_000432.4):c.403-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911176C>G" "" "pathogenic" "" "0000546517" "0" "70" "12" "111348980" "111348980" "subst" "4.52653E-5" "02326" "MYL2_000009" "g.111348980C>G" "" "" "" "MYL2(NM_000432.3):c.403-1G>C, MYL2(NM_000432.4):c.403-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911176C>G" "" "likely pathogenic" "" "0000546518" "0" "30" "12" "111350921" "111350921" "subst" "0.00113289" "02327" "MYL2_000069" "g.111350921C>T" "" "" "" "MYL2(NM_000432.3):c.381G>A (p.A127=), MYL2(NM_000432.4):c.381G>A (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913117C>T" "" "likely benign" "" "0000546519" "0" "90" "12" "111350926" "111350926" "subst" "0" "02327" "MYL2_000024" "g.111350926G>A" "" "" "" "MYL2(NM_000432.3):c.376C>T (p.Q126*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913122G>A" "" "pathogenic" "" "0000546520" "0" "50" "12" "111350928" "111350928" "subst" "0.000105575" "02327" "MYL2_000071" "g.111350928G>A" "" "" "" "MYL2(NM_000432.4):c.374C>T (p.T125M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913124G>A" "" "VUS" "" "0000546521" "0" "50" "12" "111350928" "111350928" "subst" "0.000105575" "02325" "MYL2_000071" "g.111350928G>A" "" "" "" "MYL2(NM_000432.4):c.374C>T (p.T125M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913124G>A" "" "VUS" "" "0000546522" "0" "10" "12" "111350982" "111350982" "subst" "2.03127E-5" "02327" "MYL2_000072" "g.111350982T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913178T>C" "" "benign" "" "0000546523" "0" "10" "12" "111350999" "111350999" "subst" "0" "02327" "MYL2_000023" "g.111350999G>T" "" "" "" "MYL2(NM_000432.3):c.354-51C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913195G>T" "" "benign" "" "0000546524" "0" "10" "12" "111351009" "111351009" "subst" "0.00119004" "02327" "MYL2_000073" "g.111351009C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913205C>A" "" "benign" "" "0000546525" "0" "10" "12" "111351018" "111351018" "subst" "0.000413697" "01943" "MYL2_000074" "g.111351018A>G" "" "" "" "MYL2(NM_000432.3):c.353+32T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913214A>G" "" "benign" "" "0000546526" "0" "10" "12" "111351034" "111351034" "del" "0" "02327" "MYL2_000016" "g.111351034del" "" "" "" "MYL2(NM_000432.3):c.353+20delG, MYL2(NM_000432.4):c.353+20delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913230del" "" "benign" "" "0000546527" "0" "30" "12" "111351038" "111351038" "subst" "0.000527945" "02330" "MYL2_000075" "g.111351038G>T" "" "" "" "MYL2(NM_000432.4):c.353+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913234G>T" "" "likely benign" "" "0000546528" "0" "30" "12" "111351061" "111351061" "subst" "5.2788E-5" "02327" "MYL2_000076" "g.111351061C>T" "" "" "" "MYL2(NM_000432.3):c.342G>A (p.L114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913257C>T" "" "likely benign" "" "0000546529" "0" "30" "12" "111351140" "111351140" "subst" "4.06091E-5" "02327" "MYL2_000077" "g.111351140C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913336C>T" "" "likely benign" "" "0000546530" "0" "30" "12" "111351144" "111351144" "subst" "4.06105E-6" "02327" "MYL2_000035" "g.111351144G>C" "" "" "" "MYL2(NM_000432.4):c.275-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913340G>C" "" "likely benign" "" "0000546531" "0" "10" "12" "111351186" "111351186" "subst" "0" "02327" "MYL2_000014" "g.111351186C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913382C>T" "" "benign" "" "0000546532" "0" "10" "12" "111351964" "111351965" "ins" "0" "02327" "MYL2_000078" "g.111351964_111351965insAC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914160_110914161insAC" "" "benign" "" "0000546533" "0" "30" "12" "111351972" "111351973" "ins" "0" "02327" "MYL2_000039" "g.111351972_111351973insAG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914168_110914169insAG" "" "likely benign" "" "0000546534" "0" "10" "12" "111351974" "111351975" "ins" "0" "02330" "MYL2_000079" "g.111351974_111351975insAG" "" "" "" "MYL2(NM_000432.4):c.274+15_274+16insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914170_110914171insAG" "" "benign" "" "0000546535" "0" "10" "12" "111351974" "111351975" "ins" "0" "01943" "MYL2_000042" "g.111351974_111351975insGA" "" "" "" "MYL2(NM_000432.3):c.274+16_274+17insCT, MYL2(NM_000432.4):c.274+15delGinsGTC, MYL2(NM_000432.4):c.274+16_274+17insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914170_110914171insGA" "" "benign" "" "0000546536" "0" "10" "12" "111351974" "111351975" "ins" "0" "02330" "MYL2_000080" "g.111351974_111351975insTC" "" "" "" "MYL2(NM_000432.4):c.274+16_274+17insAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914170_110914171insTC" "" "benign" "" "0000546537" "0" "30" "12" "111351975" "111351976" "ins" "0" "02325" "MYL2_000081" "g.111351975_111351976insGA" "" "" "" "MYL2(NM_000432.4):c.274+15_274+16insCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914171_110914172insGA" "" "likely benign" "" "0000546538" "0" "10" "12" "111351980" "111351981" "dup" "0" "01943" "MYL2_000082" "g.111351980_111351981dup" "" "" "" "MYL2(NM_000432.3):c.274+25_274+26dupGT, MYL2(NM_000432.4):c.274+24_274+25dupTG, MYL2(NM_000432.4):c.274+25_274+26dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914176_110914177dup" "" "benign" "" "0000546539" "0" "10" "12" "111351980" "111351981" "dup" "0" "02330" "MYL2_000082" "g.111351980_111351981dup" "" "" "" "MYL2(NM_000432.3):c.274+25_274+26dupGT, MYL2(NM_000432.4):c.274+24_274+25dupTG, MYL2(NM_000432.4):c.274+25_274+26dupGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914176_110914177dup" "" "benign" "" "0000546540" "0" "30" "12" "111351980" "111351981" "ins" "0" "02327" "MYL2_000083" "g.111351980_111351981insGT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914176_110914177insGT" "" "likely benign" "" "0000546541" "0" "50" "12" "111352001" "111352001" "subst" "0" "02327" "MYL2_000084" "g.111352001T>G" "" "" "" "MYL2(NM_000432.4):c.263A>C (p.E88A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914197T>G" "" "VUS" "" "0000546542" "0" "90" "12" "111352001" "111352001" "subst" "0" "02325" "MYL2_000084" "g.111352001T>G" "" "" "" "MYL2(NM_000432.4):c.263A>C (p.E88A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914197T>G" "" "pathogenic" "" "0000546543" "0" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "01943" "MYL2_000005" "g.111352091C>T" "" "" "" "MYL2(NM_000432.3):c.173G>A (p.R58Q), MYL2(NM_000432.4):c.173G>A (p.R58Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914287C>T" "" "pathogenic" "" "0000546544" "0" "10" "12" "111352113" "111352113" "subst" "0.000837603" "02327" "MYL2_000060" "g.111352113A>G" "" "" "" "MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914309A>G" "" "benign" "" "0000546545" "0" "30" "12" "111352115" "111352116" "del" "0" "02327" "MYL2_000085" "g.111352115_111352116del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914311_110914312del" "" "likely benign" "" "0000546546" "0" "30" "12" "111352148" "111352148" "subst" "0" "02327" "MYL2_000086" "g.111352148A>G" "" "" "" "MYL2(NM_000432.4):c.170-54T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914344A>G" "" "likely benign" "" "0000546547" "0" "10" "12" "111353328" "111353328" "del" "0" "02327" "MYL2_000087" "g.111353328del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110915524del" "" "benign" "" "0000546548" "0" "50" "12" "111353525" "111353525" "subst" "0" "01943" "MYL2_000088" "g.111353525C>A" "" "" "" "MYL2(NM_000432.3):c.163G>T (p.A55S), MYL2(NM_000432.4):c.163G>T (p.A55S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110915721C>A" "" "VUS" "" "0000546549" "0" "50" "12" "111353553" "111353553" "subst" "0" "02327" "MYL2_000089" "g.111353553G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110915749G>T" "" "VUS" "" "0000546550" "0" "10" "12" "111353556" "111353556" "subst" "0.100487" "02327" "MYL2_000015" "g.111353556A>G" "" "" "" "MYL2(NM_000432.3):c.132T>C (p.I44=), MYL2(NM_000432.4):c.132T>C (p.I44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110915752A>G" "" "benign" "" "0000546551" "0" "50" "12" "111353575" "111353575" "subst" "0" "02327" "MYL2_000090" "g.111353575T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110915771T>C" "" "VUS" "" "0000546552" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "02327" "MYL2_000003" "g.111356937C>T" "" "" "" "MYL2(NM_000432.3):c.64G>A (p.E22K), MYL2(NM_000432.4):c.64G>A (p.E22K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919133C>T" "" "pathogenic" "" "0000546553" "0" "30" "12" "111356964" "111356964" "subst" "0.000373713" "01943" "MYL2_000001" "g.111356964C>T" "" "" "" "MYL2(NM_000432.3):c.37G>A (p.A13T), MYL2(NM_000432.4):c.37G>A (p.A13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919160C>T" "" "likely benign" "" "0000546554" "0" "10" "12" "111356965" "111356965" "subst" "0.000142157" "02330" "MYL2_000091" "g.111356965G>A" "" "" "" "MYL2(NM_000432.3):c.36C>T (p.G12=), MYL2(NM_000432.4):c.36C>T (p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919161G>A" "" "benign" "" "0000546555" "0" "30" "12" "111356965" "111356965" "subst" "0.000142157" "01943" "MYL2_000091" "g.111356965G>A" "" "" "" "MYL2(NM_000432.3):c.36C>T (p.G12=), MYL2(NM_000432.4):c.36C>T (p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919161G>A" "" "likely benign" "" "0000546556" "0" "30" "12" "111356968" "111356968" "subst" "0.000398008" "02327" "MYL2_000092" "g.111356968C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919164C>T" "" "likely benign" "" "0000546557" "0" "10" "12" "111357011" "111357011" "subst" "0.00962144" "02327" "MYL2_000054" "g.111357011G>A" "" "" "" "MYL2(NM_000432.3):c.4-14C>T, MYL2(NM_000432.4):c.4-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919207G>A" "" "benign" "" "0000546558" "0" "10" "12" "111357074" "111357074" "subst" "0" "02327" "MYL2_000093" "g.111357074T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919270T>A" "" "benign" "" "0000546559" "0" "10" "12" "111357120" "111357120" "subst" "0" "02327" "MYL2_000094" "g.111357120G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919316G>A" "" "benign" "" "0000546560" "0" "10" "12" "111358234" "111358234" "subst" "0" "02327" "MYL2_000095" "g.111358234G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110920430G>A" "" "benign" "" "0000546561" "0" "10" "12" "111358266" "111358266" "subst" "0" "02327" "MYL2_000096" "g.111358266C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110920462C>T" "" "benign" "" "0000546562" "0" "30" "12" "111358298" "111358298" "subst" "0.00211661" "02327" "MYL2_000097" "g.111358298G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110920494G>A" "" "likely benign" "" "0000546563" "0" "30" "12" "111358403" "111358403" "subst" "0" "02327" "MYL2_000098" "g.111358403A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110920599A>C" "" "likely benign" "" "0000546564" "0" "50" "12" "111358404" "111358404" "subst" "0" "02327" "MYL2_000099" "g.111358404C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110920600C>A" "" "VUS" "" "0000546565" "0" "30" "12" "111358616" "111358616" "subst" "0" "02327" "MYL2_000100" "g.111358616C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110920812C>T" "" "likely benign" "" "0000613843" "0" "90" "12" "111348898" "111348898" "subst" "0" "02327" "MYL2_000013" "g.111348898C>T" "" "" "" "MYL2(NM_000432.4):c.484G>A (p.G162R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911094C>T" "" "pathogenic" "" "0000613844" "0" "50" "12" "111348916" "111348916" "subst" "0" "02327" "CCDC63_000011" "g.111348916C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911112C>T" "" "VUS" "" "0000613845" "0" "50" "12" "111348928" "111348928" "subst" "0" "02327" "CCDC63_000013" "g.111348928A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911124A>C" "" "VUS" "" "0000613846" "0" "50" "12" "111348946" "111348946" "subst" "2.8713E-5" "02327" "CCDC63_000014" "g.111348946C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911142C>T" "" "VUS" "" "0000613847" "0" "10" "12" "111348972" "111348972" "subst" "0" "02327" "CCDC63_000015" "g.111348972T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911168T>C" "" "benign" "" "0000613848" "0" "50" "12" "111350901" "111350901" "subst" "0.000190849" "02325" "MYL2_000014" "g.111350901T>G" "" "" "" "MYL2(NM_000432.3):c.401A>C (p.E134A), MYL2(NM_000432.4):c.401A>C (p.E134A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913097T>G" "" "VUS" "" "0000613849" "0" "50" "12" "111350904" "111350904" "subst" "0" "02327" "MYL2_000101" "g.111350904T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913100T>C" "" "VUS" "" "0000613850" "0" "70" "12" "111351117" "111351117" "subst" "0" "02327" "MYL2_000032" "g.111351117C>T" "" "" "" "MYL2(NM_000432.3):c.286G>A (p.E96K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913313C>T" "" "likely pathogenic" "" "0000613851" "0" "70" "12" "111352032" "111352032" "subst" "0" "02327" "MYL2_000103" "g.111352032T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914228T>G" "" "likely pathogenic" "" "0000613852" "0" "50" "12" "111356941" "111356941" "subst" "0" "02330" "MYL2_000104" "g.111356941C>A" "" "" "" "MYL2(NM_000432.4):c.60G>T (p.M20I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919137C>A" "" "VUS" "" "0000613853" "0" "30" "12" "111356965" "111356965" "subst" "0.000142157" "02327" "MYL2_000091" "g.111356965G>A" "" "" "" "MYL2(NM_000432.3):c.36C>T (p.G12=), MYL2(NM_000432.4):c.36C>T (p.G12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110919161G>A" "" "likely benign" "" "0000622783" "0" "30" "12" "111348926" "111348926" "subst" "0.000110645" "01943" "CCDC63_000012" "g.111348926G>A" "" "" "" "MYL2(NM_000432.3):c.456C>T (p.Y152=), MYL2(NM_000432.4):c.456C>T (p.Y152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110911122G>A" "" "likely benign" "" "0000622784" "0" "30" "12" "111350947" "111350947" "subst" "2.84241E-5" "02326" "MYL2_000102" "g.111350947C>T" "" "" "" "MYL2(NM_000432.3):c.355G>A (p.V119I), MYL2(NM_000432.4):c.355G>A (p.V119I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913143C>T" "" "likely benign" "" "0000622785" "0" "10" "12" "111352113" "111352113" "subst" "0.000837603" "02326" "MYL2_000060" "g.111352113A>G" "" "" "" "MYL2(NM_000432.3):c.170-19T>C, MYL2(NM_000432.4):c.170-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110914309A>G" "" "benign" "" "0000653113" "1" "70" "12" "111352091" "111352091" "subst" "8.12275E-6" "03575" "MYL2_000005" "g.111352091C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894369}" "Germline" "" "rs104894369" "0" "" "" "g.110914287C>T" "" "likely pathogenic" "" "0000656982" "0" "50" "12" "111350947" "111350947" "subst" "2.84241E-5" "02330" "MYL2_000102" "g.111350947C>T" "" "" "" "MYL2(NM_000432.3):c.355G>A (p.V119I), MYL2(NM_000432.4):c.355G>A (p.V119I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110913143C>T" "" "VUS" "" "0000679396" "0" "70" "12" "111350901" "111350901" "subst" "0.000190849" "02327" "MYL2_000014" "g.111350901T>G" "" "" "" "MYL2(NM_000432.3):c.401A>C (p.E134A), MYL2(NM_000432.4):c.401A>C (p.E134A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000679397" "0" "50" "12" "111356959" "111356959" "dup" "0" "01804" "MYL2_000105" "g.111356959dup" "" "" "" "MYL2(NM_000432.3):c.42dup (p.(Ser15LeufsTer16))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691243" "0" "10" "12" "111351034" "111351034" "subst" "8.56053E-5" "02330" "MYL2_000030" "g.111351034C>T" "" "" "" "MYL2(NM_000432.3):c.353+16G>A, MYL2(NM_000432.4):c.353+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000700483" "0" "90" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "3/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "pathogenic" "" "0000700484" "0" "50" "12" "111356921" "111356921" "subst" "0" "00006" "MYL2_000125" "g.111356921T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110919117T>C" "" "VUS" "" "0000700485" "0" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000700486" "0" "50" "12" "111352007" "111352007" "subst" "2.03028E-5" "00006" "MYL2_000118" "g.111352007A>G" "2/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110914203A>G" "" "VUS" "" "0000700487" "0" "50" "12" "111348924" "111348924" "subst" "0" "00006" "MYL2_000111" "g.111348924T>C" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110911120T>C" "" "VUS" "" "0000700488" "0" "50" "12" "111348896" "111348898" "del" "0" "00006" "MYL2_000108" "g.111348896_111348898del" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110911092_110911094del" "" "VUS" "" "0000700489" "0" "50" "12" "111348883" "111348883" "subst" "0" "00006" "MYL2_000107" "g.111348883A>G" "1/1535 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110911079A>G" "" "VUS" "" "0000701335" "0" "50" "12" "111356955" "111356956" "delins" "0" "00006" "MYL2_000126" "g.111356955_111356956delinsA" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110919151_110919152delinsA" "" "VUS" "" "0000701336" "0" "70" "12" "111356937" "111356937" "subst" "2.03039E-5" "00006" "MYL2_000003" "g.111356937C>T" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110919133C>T" "" "likely pathogenic" "" "0000701337" "0" "70" "12" "111356921" "111356921" "subst" "0" "00006" "MYL2_000125" "g.111356921T>C" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110919117T>C" "" "likely pathogenic" "" "0000701338" "0" "50" "12" "111356917" "111356917" "subst" "0" "00006" "MYL2_000124" "g.111356917T>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110919113T>A" "" "VUS" "" "0000701339" "0" "50" "12" "111353569" "111353569" "subst" "0" "00006" "MYL2_000123" "g.111353569C>T" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110915765C>T" "" "VUS" "" "0000701340" "0" "50" "12" "111353546" "111353546" "subst" "0" "00006" "MYL2_000122" "g.111353546C>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110915742C>A" "" "VUS" "" "0000701341" "0" "50" "12" "111353525" "111353525" "subst" "0" "00006" "MYL2_000088" "g.111353525C>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110915721C>A" "" "VUS" "" "0000701342" "0" "70" "12" "111352094" "111352094" "subst" "4.06141E-6" "00006" "MYL2_000020" "g.111352094C>T" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110914290C>T" "" "likely pathogenic" "" "0000701343" "0" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "00006" "MYL2_000005" "g.111352091C>T" "5/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110914287C>T" "" "pathogenic" "" "0000701344" "0" "50" "12" "111352080" "111352080" "subst" "8.1215E-6" "00006" "MYL2_000121" "g.111352080T>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110914276T>A" "" "VUS" "" "0000701345" "0" "70" "12" "111352071" "111352071" "subst" "0" "00006" "MYL2_000120" "g.111352071C>T" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110914267C>T" "" "likely pathogenic" "" "0000701346" "0" "70" "12" "111352025" "111352025" "subst" "0" "00006" "MYL2_000119" "g.111352025G>T" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110914221G>T" "" "likely pathogenic" "" "0000701347" "0" "70" "12" "111352004" "111352004" "subst" "0" "00006" "MYL2_000117" "g.111352004C>G" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110914200C>G" "" "likely pathogenic" "" "0000701348" "0" "70" "12" "111351128" "111351128" "subst" "0" "00006" "MYL2_000116" "g.111351128C>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110913324C>A" "" "likely pathogenic" "" "0000701349" "0" "50" "12" "111351090" "111351090" "subst" "0" "00006" "MYL2_000115" "g.111351090C>T" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110913286C>T" "" "VUS" "" "0000701350" "0" "50" "12" "111350944" "111350944" "subst" "0" "00006" "MYL2_000021" "g.111350944G>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110913140G>A" "" "VUS" "" "0000701351" "0" "50" "12" "111350928" "111350928" "subst" "0.000105575" "00006" "MYL2_000071" "g.111350928G>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour benign" "Germline" "" "" "0" "" "" "g.110913124G>A" "" "VUS" "" "0000701352" "0" "50" "12" "111350910" "111350910" "subst" "0" "00006" "MYL2_000114" "g.111350910G>C" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110913106G>C" "" "VUS" "" "0000701353" "0" "50" "12" "111350900" "111350900" "subst" "0" "00006" "MYL2_000113" "g.111350900C>G" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.110913096C>G" "" "VUS" "" "0000701354" "0" "50" "12" "111348954" "111348954" "subst" "2.05162E-5" "00006" "MYL2_000112" "g.111348954G>A" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110911150G>A" "" "VUS" "" "0000701355" "0" "50" "12" "111348923" "111348923" "subst" "2.86784E-5" "00006" "MYL2_000110" "g.111348923C>G" "2/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110911119C>G" "" "VUS" "" "0000701356" "0" "70" "12" "111348900" "111348900" "subst" "0" "00006" "MYL2_000109" "g.111348900T>C" "1/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110911096T>C" "" "likely pathogenic" "" "0000701357" "0" "70" "12" "111348897" "111348897" "subst" "0" "00006" "MYL2_000070" "g.111348897C>T" "3/2650 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110911093C>T" "" "likely pathogenic" "" "0000701639" "0" "50" "12" "111356970" "111356970" "subst" "0" "00006" "MYL2_000127" "g.111356970C>T" "1/188 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.110919166C>T" "" "VUS" "" "0000701782" "0" "50" "12" "111348949" "111348949" "subst" "2.05113E-5" "00006" "MYL2_000106" "g.111348949C>T" "" "{PMID:Haskell 2017:28611029}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000723829" "0" "10" "12" "111351979" "111351980" "ins" "0" "02330" "MYL2_000128" "g.111351979_111351980insGC" "" "" "" "MYL2(NM_000432.4):c.274+11_274+12insCG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723830" "0" "50" "12" "111352017" "111352017" "subst" "0" "02326" "MYL2_000048" "g.111352017G>A" "" "" "" "MYL2(NM_000432.3):c.247C>T (p.L83F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805525" "0" "90" "12" "111348899" "111348899" "subst" "0" "01943" "CCDC63_000008" "g.111348899G>T" "" "" "" "MYL2(NM_000432.3):c.483C>A (p.H161Q), MYL2(NM_000432.4):c.483C>A (p.H161Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853257" "0" "10" "12" "111348926" "111348926" "subst" "0.000110645" "02330" "CCDC63_000012" "g.111348926G>A" "" "" "" "MYL2(NM_000432.3):c.456C>T (p.Y152=), MYL2(NM_000432.4):c.456C>T (p.Y152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853258" "0" "90" "12" "111352091" "111352091" "subst" "8.12275E-6" "02330" "MYL2_000005" "g.111352091C>T" "" "" "" "MYL2(NM_000432.3):c.173G>A (p.R58Q), MYL2(NM_000432.4):c.173G>A (p.R58Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000853259" "0" "50" "12" "111356955" "111356955" "del" "0" "02330" "MYL2_000129" "g.111356955del" "" "" "" "MYL2(NM_000432.4):c.47delA (p.N16Tfs*34)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853260" "0" "10" "12" "111356956" "111356956" "subst" "4.06105E-6" "02330" "MYL2_000130" "g.111356956G>A" "" "" "" "MYL2(NM_000432.4):c.45C>T (p.S15=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862801" "0" "50" "12" "111348891" "111348891" "subst" "0" "01943" "CCDC63_000016" "g.111348891T>G" "" "" "" "MYL2(NM_000432.3):c.491A>C (p.E164A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890267" "0" "50" "12" "111348927" "111348927" "subst" "0" "01804" "CCDC63_000017" "g.111348927T>C" "" "" "" "MYL2(NM_000432.3):c.455A>G (p.(Tyr152Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890268" "0" "50" "12" "111348939" "111348939" "subst" "0" "02330" "CCDC63_000018" "g.111348939C>T" "" "" "" "MYL2(NM_000432.4):c.443G>A (p.G148D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890269" "0" "30" "12" "111348974" "111348974" "subst" "4.1112E-6" "02327" "CCDC63_000019" "g.111348974G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890270" "0" "30" "12" "111350921" "111350921" "subst" "0.00113289" "02326" "MYL2_000069" "g.111350921C>T" "" "" "" "MYL2(NM_000432.3):c.381G>A (p.A127=), MYL2(NM_000432.4):c.381G>A (p.A127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890271" "0" "90" "12" "111356949" "111356949" "subst" "0" "02325" "MYL2_000002" "g.111356949A>G" "" "" "" "MYL2(NM_000432.4):c.52T>C (p.F18L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890272" "0" "30" "12" "111356964" "111356964" "subst" "0.000373713" "02325" "MYL2_000001" "g.111356964C>T" "" "" "" "MYL2(NM_000432.3):c.37G>A (p.A13T), MYL2(NM_000432.4):c.37G>A (p.A13T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913742" "0" "70" "12" "111348898" "111348898" "subst" "0" "02325" "MYL2_000013" "g.111348898C>T" "" "" "" "MYL2(NM_000432.4):c.484G>A (p.G162R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913743" "0" "10" "12" "111352148" "111352148" "subst" "0" "02325" "MYL2_000086" "g.111352148A>G" "" "" "" "MYL2(NM_000432.4):c.170-54T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913744" "0" "30" "12" "111357011" "111357011" "del" "0.00028609" "02326" "MYL2_000055" "g.111357011del" "" "" "" "MYL2(NM_000432.3):c.4-14delC, MYL2(NM_000432.4):c.4-14delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925535" "0" "50" "12" "111350901" "111350901" "subst" "0.000190849" "02326" "MYL2_000014" "g.111350901T>G" "" "" "" "MYL2(NM_000432.3):c.401A>C (p.E134A), MYL2(NM_000432.4):c.401A>C (p.E134A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925536" "0" "10" "12" "111351982" "111351982" "subst" "5.6862E-5" "02330" "MYL2_000047" "g.111351982G>A" "" "" "" "MYL2(NM_000432.3):c.274+8C>T, MYL2(NM_000432.4):c.274+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925537" "0" "50" "12" "111353533" "111353533" "subst" "0" "02327" "MYL2_000131" "g.111353533G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930008" "0" "30" "12" "111350966" "111350966" "subst" "4.46708E-5" "02326" "MYL2_000022" "g.111350966C>T" "" "" "" "MYL2(NM_000432.3):c.354-18G>A, MYL2(NM_000432.4):c.354-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949838" "0" "30" "12" "111351981" "111351982" "ins" "4.87325E-5" "02330" "MYL2_000132" "g.111351981_111351982insAT" "" "" "" "MYL2(NM_000432.4):c.274+8_274+9insAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949839" "0" "50" "12" "111353525" "111353525" "subst" "0" "02330" "MYL2_000088" "g.111353525C>A" "" "" "" "MYL2(NM_000432.3):c.163G>T (p.A55S), MYL2(NM_000432.4):c.163G>T (p.A55S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000957761" "0" "70" "12" "111352043" "111352043" "subst" "4.06062E-6" "00006" "MYL2_000133" "g.111352043G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.110914239G>A" "" "likely pathogenic" "" "0000966691" "0" "30" "12" "111351124" "111351124" "subst" "0.000259884" "02326" "MYL2_000033" "g.111351124C>T" "" "" "" "MYL2(NM_000432.3):c.279G>A (p.A93=), MYL2(NM_000432.4):c.279G>A (p.A93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966692" "0" "10" "12" "111357015" "111357015" "subst" "2.46176E-5" "02330" "MYL2_000134" "g.111357015C>T" "" "" "" "MYL2(NM_000432.4):c.4-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000989670" "0" "70" "12" "111350901" "111350901" "subst" "0.000190849" "02515" "MYL2_000014" "g.111350901T>G" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "rs143139258" "0" "" "" "g.110913097T>G" "" "likely pathogenic" "" "0000989739" "0" "50" "12" "111352058" "111352058" "subst" "0" "02515" "MYL2_000065" "g.111352058A>G" "" "Fusco 2042, submitted" "" "" "variant definitively linked to disease" "Germline" "" "" "0" "" "" "g.110914254A>G" "" "VUS" "" "0001014903" "0" "10" "12" "111348950" "111348950" "subst" "0" "02330" "CCDC63_000020" "g.111348950A>G" "" "" "" "MYL2(NM_000432.4):c.432T>C (p.P144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001026096" "0" "30" "12" "111351061" "111351061" "subst" "5.2788E-5" "02326" "MYL2_000076" "g.111351061C>T" "" "" "" "MYL2(NM_000432.3):c.342G>A (p.L114=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026097" "0" "50" "12" "111351125" "111351125" "subst" "8.1215E-6" "02330" "MYL2_000135" "g.111351125G>A" "" "" "" "MYL2(NM_000432.4):c.278C>T (p.A93V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045084" "0" "50" "12" "111353546" "111353546" "subst" "0" "03779" "MYL2_000136" "g.111353546C>T" "" "" "" "" "" "Unknown" "" "rs727504405" "0" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MYL2 ## Count = 263 "{{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}}" "0000095211" "00014149" "50" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "" "0000095248" "00014149" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "0000095284" "00014149" "50" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "0000095656" "00014149" "50" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000175167" "00014149" "90" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "6" "0000175201" "00014149" "90" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Met69Thr)" "4" "0000247068" "00014149" "10" "132" "0" "132" "0" "c.132T>C" "r.(?)" "p.(Ile44=)" "" "0000247077" "00014149" "10" "170" "-19" "170" "-19" "c.170-19T>C" "r.(=)" "p.(=)" "" "0000247174" "00014149" "90" "432" "0" "432" "0" "c.432del" "r.(?)" "p.(Asp145ThrfsTer2)" "" "0000247834" "00014149" "10" "132" "0" "132" "0" "c.132T>C" "r.(?)" "p.(Ile44=)" "" "0000248051" "00014149" "30" "170" "-19" "170" "-19" "c.170-19T>C" "r.(=)" "p.(=)" "" "0000249557" "00014149" "30" "274" "20" "274" "20" "c.274+20T>C" "r.(=)" "p.(=)" "" "0000250616" "00014149" "10" "132" "0" "132" "0" "c.132T>C" "r.(?)" "p.(Ile44=)" "" "0000252968" "00014149" "10" "132" "0" "132" "0" "c.132T>C" "r.(?)" "p.(Ile44=)" "" "0000253312" "00014149" "10" "170" "-19" "170" "-19" "c.170-19T>C" "r.(=)" "p.(=)" "" "0000253854" "00014149" "10" "353" "47" "353" "47" "c.353+47T>C" "r.(=)" "p.(=)" "" "0000292759" "00014149" "10" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Pro74=)" "" "0000292760" "00014149" "10" "274" "13" "274" "13" "c.274+13G>A" "r.(=)" "p.(=)" "" "0000292761" "00014149" "10" "274" "16" "274" "17" "c.274+16_274+17insCT" "r.(=)" "p.(=)" "" "0000292767" "00014149" "10" "275" "-14" "275" "-14" "c.275-14G>C" "r.(=)" "p.(=)" "" "0000292768" "00014149" "10" "275" "-16" "275" "-16" "c.275-16C>G" "r.(=)" "p.(=)" "" "0000292770" "00014149" "10" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Ala93=)" "" "0000292771" "00014149" "10" "353" "20" "353" "20" "c.353+20del" "r.(=)" "p.(=)" "" "0000292773" "00014149" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "0000292775" "00014149" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Ala127=)" "" "0000292776" "00014149" "10" "4" "-14" "4" "-14" "c.4-14C>T" "r.(=)" "p.(=)" "" "0000292777" "00014149" "10" "4" "-14" "4" "-14" "c.4-14del" "r.(=)" "p.(=)" "" "0000292779" "00014149" "10" "4" "-19" "4" "-16" "c.4-19_4-16del" "r.(=)" "p.(=)" "" "0000292780" "00014149" "50" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "" "0000292781" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000292782" "00014149" "30" "8" "0" "14" "0" "c.8_14del" "r.(?)" "p.(Pro3GlnfsTer45)" "" "0000296183" "00014149" "30" "222" "0" "222" "0" "c.222G>A" "r.(?)" "p.(Pro74=)" "" "0000296184" "00014149" "30" "274" "16" "274" "17" "c.274+16_274+17insCT" "r.(=)" "p.(=)" "" "0000296186" "00014149" "30" "353" "14" "353" "14" "c.353+14G>A" "r.(=)" "p.(=)" "" "0000296187" "00014149" "10" "353" "20" "353" "20" "c.353+20del" "r.(=)" "p.(=)" "" "0000296188" "00014149" "30" "353" "16" "353" "16" "c.353+16G>A" "r.(=)" "p.(=)" "" "0000296189" "00014149" "30" "354" "-18" "354" "-18" "c.354-18G>A" "r.(=)" "p.(=)" "" "0000296190" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000299751" "00014149" "30" "274" "8" "274" "8" "c.274+8C>T" "r.(=)" "p.(=)" "" "0000299752" "00014149" "10" "353" "20" "353" "20" "c.353+20del" "r.(=)" "p.(=)" "" "0000299753" "00014149" "70" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000299754" "00014149" "10" "4" "-14" "4" "-14" "c.4-14C>T" "r.(=)" "p.(=)" "" "0000299755" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000302526" "00014149" "50" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Met69Val)" "" "0000302527" "00014149" "70" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Leu83Phe)" "" "0000302529" "00014149" "10" "274" "17" "274" "17" "c.274+17G>C" "r.(=)" "p.(=)" "" "0000302531" "00014149" "10" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Ala93=)" "" "0000302532" "00014149" "90" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "0000302533" "00014149" "10" "353" "16" "353" "16" "c.353+16G>A" "r.(=)" "p.(=)" "" "0000302534" "00014149" "10" "353" "20" "353" "20" "c.353+20del" "r.(=)" "p.(=)" "" "0000302535" "00014149" "10" "353" "46" "353" "46" "c.353+46dup" "r.(=)" "p.(=)" "" "0000302537" "00014149" "10" "353" "51" "353" "51" "c.353+51C>A" "r.(=)" "p.(=)" "" "0000302538" "00014149" "10" "353" "51" "353" "51" "c.353+51C>T" "r.(=)" "p.(=)" "" "0000302539" "00014149" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Gln126Ter)" "" "0000302540" "00014149" "10" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Ala127=)" "" "0000302541" "00014149" "10" "4" "-14" "4" "-14" "c.4-14C>T" "r.(=)" "p.(=)" "" "0000302542" "00014149" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Ala141Thr)" "" "0000302543" "00014149" "50" "469" "0" "469" "0" "c.469C>G" "r.(?)" "p.(His157Asp)" "" "0000302544" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000367860" "00014149" "90" "188" "0" "188" "0" "c.188del" "r.(188del)" "p.(Asn63Metfs*7)" "4" "0000368331" "00014149" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Gln126*)" "6" "0000442755" "00014149" "70" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "2" "0000442756" "00014149" "90" "52" "0" "52" "0" "c.52T>C" "r.(?)" "p.(Phe18Leu)" "2" "0000442757" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "2" "0000442758" "00014149" "90" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Asn47Lys)" "3" "0000442759" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "4" "0000442760" "00014149" "70" "403" "-1" "403" "-1" "c.403-1G>C" "r.spl" "p.?" "6i" "0000442761" "00014149" "50" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Lys104Glu)" "5" "0000442762" "00014149" "90" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.(Pro95Ala)" "5" "0000442763" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "4" "0000442764" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "2" "0000442765" "00014149" "90" "170" "0" "170" "0" "c.170G>A" "r.(spl?)" "p.(Gly57Glu)" "4" "0000442766" "00014149" "90" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "2" "0000442767" "00014149" "10" "4" "-13" "4" "-13" "c.4-13T>C" "r.(=)" "p.(=)" "1i" "0000442768" "00014149" "10" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(=)" "3" "0000442769" "00014149" "10" "275" "-58" "275" "-58" "c.275-58G>A" "r.(=)" "p.(=)" "4i" "0000442770" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "4" "0000442771" "00014149" "70" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "2" "0000442772" "00014149" "10" "132" "0" "132" "0" "c.132T>C" "r.(?)" "p.(=)" "3" "0000442773" "00014149" "10" "275" "-58" "275" "-58" "c.275-58G>A" "r.(?)" "p.(=)" "4i" "0000442774" "00014149" "10" "353" "20" "353" "20" "c.353+20del" "r.(?)" "p.(=)" "5i" "0000442775" "00014149" "10" "274" "1" "274" "1" "c.274+1G>C" "r.(?)" "p.(=)" "4i" "0000442776" "00014149" "10" "353" "51" "353" "51" "c.353+51C>T" "r.(?)" "p.(=)" "5i" "0000442777" "00014149" "10" "353" "46" "353" "46" "c.353+46dup" "r.(?)" "p.(=)" "5i" "0000442778" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "4" "0000442779" "00014149" "90" "354" "-2" "354" "-2" "c.354-2A>G" "r.spl" "p.?" "5i" "0000442780" "00014149" "90" "497" "0" "497" "0" "c.497A>T" "r.(?)" "p.(Asp166Val)" "7" "0000442781" "00014149" "90" "52" "0" "52" "0" "c.52T>C" "r.(?)" "p.(Phe18Leu)" "2" "0000442782" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "2" "0000442783" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "2" "0000442784" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "4" "0000442785" "00014149" "90" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "6" "0000442786" "00014149" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "7" "0000442787" "00014149" "90" "58" "0" "58" "0" "c.58A>C" "r.(?)" "p.(Met20Leu)" "2" "0000442788" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "4" "0000442789" "00014149" "90" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Asn47Lys)" "3" "0000442790" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "4" "0000442791" "00014149" "90" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.(Pro95Ala)" "5" "0000442792" "00014149" "90" "310" "0" "310" "0" "c.310A>G" "r.(?)" "p.(Lys104Glu)" "5" "0000442793" "00014149" "90" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "2" "0000442794" "00014149" "90" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "6" "0000442795" "00014149" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "7" "0000442796" "00014149" "90" "497" "0" "497" "0" "c.497A>T" "r.(?)" "p.(Asp166Val)" "7" "0000442797" "00014149" "90" "52" "0" "52" "0" "c.52T>C" "r.(?)" "p.(Phe18Leu)" "2" "0000442798" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "2" "0000442799" "00014149" "50" "52" "0" "52" "0" "c.52T>C" "r.(?)" "p.Phe18Leu" "2" "0000442800" "00014149" "50" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.Pro95Ala" "5" "0000442801" "00014149" "70" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.Ala13Thr" "2" "0000442802" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.Glu22Lys" "2" "0000442803" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.Arg58Gln" "4" "0000442804" "00014149" "70" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.Ala13Thr" "2" "0000442805" "00014149" "70" "52" "0" "52" "0" "c.52T>C" "r.(?)" "p.Phe18Leu" "2" "0000442806" "00014149" "70" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.Glu22Lys" "2" "0000442807" "00014149" "70" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.Pro95Ala" "5" "0000442808" "00014149" "90" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.Asn47Lys" "3" "0000442809" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.Arg58Gln" "4" "0000455082" "00014149" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Gly162Glu)" "" "0000546503" "00014149" "10" "832" "0" "832" "0" "c.*331G>C" "r.(=)" "p.(=)" "" "0000546504" "00014149" "10" "743" "0" "743" "0" "c.*242G>A" "r.(=)" "p.(=)" "" "0000546505" "00014149" "10" "742" "0" "742" "0" "c.*241C>T" "r.(=)" "p.(=)" "" "0000546506" "00014149" "30" "673" "0" "673" "0" "c.*172G>A" "r.(=)" "p.(=)" "" "0000546507" "00014149" "30" "664" "0" "664" "0" "c.*163T>C" "r.(=)" "p.(=)" "" "0000546508" "00014149" "30" "628" "0" "628" "0" "c.*127C>T" "r.(=)" "p.(=)" "" "0000546509" "00014149" "30" "603" "0" "603" "0" "c.*102C>A" "r.(=)" "p.(=)" "" "0000546510" "00014149" "90" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(His161Gln)" "" "0000546511" "00014149" "50" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(Pro144Ser)" "" "0000546512" "00014149" "50" "419" "0" "419" "0" "c.419C>T" "r.(?)" "p.(Ala140Val)" "" "0000546513" "00014149" "90" "403" "-1" "403" "-1" "c.403-1G>C" "r.spl?" "p.?" "" "0000546514" "00014149" "90" "403" "-1" "403" "-1" "c.403-1G>C" "r.spl?" "p.?" "" "0000546515" "00014149" "90" "403" "-1" "403" "-1" "c.403-1G>C" "r.spl?" "p.?" "" "0000546516" "00014149" "90" "403" "-1" "403" "-1" "c.403-1G>C" "r.spl?" "p.?" "" "0000546517" "00014149" "70" "403" "-1" "403" "-1" "c.403-1G>C" "r.spl?" "p.?" "" "0000546518" "00014149" "30" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Ala127=)" "" "0000546519" "00014149" "90" "376" "0" "376" "0" "c.376C>T" "r.(?)" "p.(Gln126Ter)" "" "0000546520" "00014149" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "" "0000546521" "00014149" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "" "0000546522" "00014149" "10" "354" "-34" "354" "-34" "c.354-34A>G" "r.(=)" "p.(=)" "" "0000546523" "00014149" "10" "353" "51" "353" "51" "c.353+51C>A" "r.(=)" "p.(=)" "" "0000546524" "00014149" "10" "353" "41" "353" "41" "c.353+41G>T" "r.(=)" "p.(=)" "" "0000546525" "00014149" "10" "353" "32" "353" "32" "c.353+32T>C" "r.(=)" "p.(=)" "" "0000546526" "00014149" "10" "353" "20" "353" "20" "c.353+20del" "r.(=)" "p.(=)" "" "0000546527" "00014149" "30" "353" "12" "353" "12" "c.353+12C>A" "r.(=)" "p.(=)" "" "0000546528" "00014149" "30" "342" "0" "342" "0" "c.342G>A" "r.(?)" "p.(Leu114=)" "" "0000546529" "00014149" "30" "275" "-12" "275" "-12" "c.275-12G>A" "r.(=)" "p.(=)" "" "0000546530" "00014149" "30" "275" "-16" "275" "-16" "c.275-16C>G" "r.(=)" "p.(=)" "" "0000546531" "00014149" "10" "275" "-58" "275" "-58" "c.275-58G>A" "r.(=)" "p.(=)" "" "0000546532" "00014149" "10" "274" "25" "274" "26" "c.274+25_274+26insGT" "r.(=)" "p.(=)" "" "0000546533" "00014149" "30" "274" "17" "274" "18" "c.274+17_274+18insCT" "r.(=)" "p.(=)" "" "0000546534" "00014149" "10" "274" "15" "274" "16" "c.274+15_274+16insCT" "r.(=)" "p.(=)" "" "0000546535" "00014149" "10" "274" "16" "274" "17" "c.274+16_274+17insCT" "r.(=)" "p.(=)" "" "0000546536" "00014149" "10" "274" "15" "274" "16" "c.274+15_274+16insGA" "r.(=)" "p.(=)" "" "0000546537" "00014149" "30" "274" "14" "274" "15" "c.274+14_274+15insTC" "r.(=)" "p.(=)" "" "0000546538" "00014149" "10" "274" "25" "274" "26" "c.274+25_274+26dup" "r.(=)" "p.(=)" "" "0000546539" "00014149" "10" "274" "25" "274" "26" "c.274+25_274+26dup" "r.(=)" "p.(=)" "" "0000546540" "00014149" "30" "274" "9" "274" "10" "c.274+9_274+10insAC" "r.(=)" "p.(=)" "" "0000546541" "00014149" "50" "263" "0" "263" "0" "c.263A>C" "r.(?)" "p.(Glu88Ala)" "" "0000546542" "00014149" "90" "263" "0" "263" "0" "c.263A>C" "r.(?)" "p.(Glu88Ala)" "" "0000546543" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000546544" "00014149" "10" "170" "-19" "170" "-19" "c.170-19T>C" "r.(=)" "p.(=)" "" "0000546545" "00014149" "30" "170" "-21" "170" "-20" "c.170-21_170-20del" "r.(=)" "p.(=)" "" "0000546546" "00014149" "30" "170" "-54" "170" "-54" "c.170-54T>C" "r.(=)" "p.(=)" "" "0000546547" "00014149" "10" "169" "198" "169" "198" "c.169+198del" "r.(=)" "p.(=)" "" "0000546548" "00014149" "50" "163" "0" "163" "0" "c.163G>T" "r.(?)" "p.(Ala55Ser)" "" "0000546549" "00014149" "50" "135" "0" "135" "0" "c.135C>A" "r.(?)" "p.(Asp45Glu)" "" "0000546550" "00014149" "10" "132" "0" "132" "0" "c.132T>C" "r.(?)" "p.(Ile44=)" "" "0000546551" "00014149" "50" "113" "0" "113" "0" "c.113A>G" "r.(?)" "p.(Gln38Arg)" "" "0000546552" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000546553" "00014149" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "0000546554" "00014149" "10" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Gly12=)" "" "0000546555" "00014149" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Gly12=)" "" "0000546556" "00014149" "30" "33" "0" "33" "0" "c.33G>A" "r.(?)" "p.(Gly11=)" "" "0000546557" "00014149" "10" "4" "-14" "4" "-14" "c.4-14C>T" "r.(=)" "p.(=)" "" "0000546558" "00014149" "10" "4" "-77" "4" "-77" "c.4-77A>T" "r.(=)" "p.(=)" "" "0000546559" "00014149" "10" "4" "-123" "4" "-123" "c.4-123C>T" "r.(=)" "p.(=)" "" "0000546560" "00014149" "10" "3" "97" "3" "97" "c.3+97C>T" "r.(=)" "p.(=)" "" "0000546561" "00014149" "10" "3" "65" "3" "65" "c.3+65G>A" "r.(=)" "p.(=)" "" "0000546562" "00014149" "30" "3" "33" "3" "33" "c.3+33C>T" "r.(=)" "p.(=)" "" "0000546563" "00014149" "30" "-70" "0" "-70" "0" "c.-70T>G" "r.(?)" "p.(=)" "" "0000546564" "00014149" "50" "-71" "0" "-71" "0" "c.-71G>T" "r.(?)" "p.(=)" "" "0000546565" "00014149" "30" "-283" "0" "-283" "0" "c.-283G>A" "r.(?)" "p.(=)" "" "0000613843" "00014149" "90" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "" "0000613844" "00014149" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Val156Met)" "" "0000613845" "00014149" "50" "454" "0" "454" "0" "c.454T>G" "r.(?)" "p.(Tyr152Asp)" "" "0000613846" "00014149" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Val146Met)" "" "0000613847" "00014149" "10" "410" "0" "410" "0" "c.410A>G" "r.(?)" "p.(Gln137Arg)" "" "0000613848" "00014149" "50" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "" "0000613849" "00014149" "50" "398" "0" "398" "0" "c.398A>G" "r.(?)" "p.(Glu133Gly)" "" "0000613850" "00014149" "70" "286" "0" "286" "0" "c.286G>A" "r.(?)" "p.(Glu96Lys)" "" "0000613851" "00014149" "70" "232" "0" "232" "0" "c.232A>C" "r.(?)" "p.(Asn78His)" "" "0000613852" "00014149" "50" "60" "0" "60" "0" "c.60G>T" "r.(?)" "p.(Met20Ile)" "" "0000613853" "00014149" "30" "36" "0" "36" "0" "c.36C>T" "r.(?)" "p.(Gly12=)" "" "0000622783" "00014149" "30" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Tyr152=)" "" "0000622784" "00014149" "30" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "" "0000622785" "00014149" "10" "170" "-19" "170" "-19" "c.170-19T>C" "r.(=)" "p.(=)" "" "0000653113" "00014149" "70" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000656982" "00014149" "50" "355" "0" "355" "0" "c.355G>A" "r.(?)" "p.(Val119Ile)" "" "0000679396" "00014149" "70" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "" "0000679397" "00014149" "50" "42" "0" "42" "0" "c.42dup" "r.(?)" "p.(Ser15LeufsTer16)" "" "0000691243" "00014149" "10" "353" "16" "353" "16" "c.353+16G>A" "r.(=)" "p.(=)" "" "0000700483" "00014149" "90" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000700484" "00014149" "50" "80" "0" "80" "0" "c.80A>G" "r.(?)" "p.(Gln27Arg)" "" "0000700485" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000700486" "00014149" "50" "257" "0" "257" "0" "c.257T>C" "r.(?)" "p.(Phe86Ser)" "" "0000700487" "00014149" "50" "458" "0" "458" "0" "c.458A>G" "r.(?)" "p.(Lys153Arg)" "" "0000700488" "00014149" "50" "485" "0" "487" "0" "c.485_487del" "r.(?)" "p.(Gly162del)" "" "0000700489" "00014149" "50" "499" "0" "499" "0" "c.499T>C" "r.(?)" "p.(*167Glnext*?)" "" "0000701335" "00014149" "50" "45" "0" "46" "0" "c.45_46delinsT" "r.(?)" "p.(Asn16Thrfs*34)" "" "0000701336" "00014149" "70" "64" "0" "64" "0" "c.64G>A" "r.(?)" "p.(Glu22Lys)" "" "0000701337" "00014149" "70" "80" "0" "80" "0" "c.80A>G" "r.(?)" "p.(Gln27Arg)" "" "0000701338" "00014149" "50" "84" "0" "84" "0" "c.84A>T" "r.(?)" "p.(Glu28Asp)" "" "0000701339" "00014149" "50" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Lys)" "" "0000701340" "00014149" "50" "142" "0" "142" "0" "c.142G>T" "r.(?)" "p.(Asp48Tyr)" "" "0000701341" "00014149" "50" "163" "0" "163" "0" "c.163G>T" "r.(?)" "p.(Ala55Ser)" "" "0000701342" "00014149" "70" "170" "0" "170" "0" "c.170G>A" "r.(?)" "p.(Gly57Glu)" "" "0000701343" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000701344" "00014149" "50" "184" "0" "184" "0" "c.184A>T" "r.(?)" "p.(Lys62*)" "" "0000701345" "00014149" "70" "193" "0" "193" "0" "c.193G>A" "r.(?)" "p.(Glu65Lys)" "" "0000701346" "00014149" "70" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Thr80Asn)" "" "0000701347" "00014149" "70" "260" "0" "260" "0" "c.260G>C" "r.(?)" "p.(Gly87Ala)" "" "0000701348" "00014149" "70" "275" "0" "275" "0" "c.275G>T" "r.(?)" "p.(Gly92Val)" "" "0000701349" "00014149" "50" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Val105Met)" "" "0000701350" "00014149" "50" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Arg120Trp)" "" "0000701351" "00014149" "50" "374" "0" "374" "0" "c.374C>T" "r.(?)" "p.(Thr125Met)" "" "0000701352" "00014149" "50" "392" "0" "392" "0" "c.392C>G" "r.(?)" "p.(Ser131Cys)" "" "0000701353" "00014149" "50" "402" "0" "402" "0" "c.402G>C" "r.(?)" "p.(Glu134Asp)" "" "0000701354" "00014149" "50" "428" "0" "428" "0" "c.428C>T" "r.(?)" "p.(Pro143Leu)" "" "0000701355" "00014149" "50" "459" "0" "459" "0" "c.459G>C" "r.(?)" "p.(Lys153Asn)" "" "0000701356" "00014149" "70" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(His161Arg)" "" "0000701357" "00014149" "70" "485" "0" "485" "0" "c.485G>A" "r.(?)" "p.(Gly162Glu)" "" "0000701639" "00014149" "50" "31" "0" "31" "0" "c.31G>A" "r.(?)" "p.(Gly11Arg)" "" "0000701782" "00014149" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Asp145Asn)" "" "0000723829" "00014149" "10" "274" "11" "274" "12" "c.274+11_274+12insCG" "r.(=)" "p.(=)" "" "0000723830" "00014149" "50" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Leu83Phe)" "" "0000805525" "00014149" "90" "483" "0" "483" "0" "c.483C>A" "r.(?)" "p.(His161Gln)" "" "0000853257" "00014149" "10" "456" "0" "456" "0" "c.456C>T" "r.(?)" "p.(Tyr152=)" "" "0000853258" "00014149" "90" "173" "0" "173" "0" "c.173G>A" "r.(?)" "p.(Arg58Gln)" "" "0000853259" "00014149" "50" "47" "0" "47" "0" "c.47del" "r.(?)" "p.(Asn16Thrfs*34)" "" "0000853260" "00014149" "10" "45" "0" "45" "0" "c.45C>T" "r.(?)" "p.(Ser15=)" "" "0000862801" "00014149" "50" "491" "0" "491" "0" "c.491A>C" "r.(?)" "p.(Glu164Ala)" "" "0000890267" "00014149" "50" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Tyr152Cys)" "" "0000890268" "00014149" "50" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Gly148Asp)" "" "0000890269" "00014149" "30" "408" "0" "408" "0" "c.408C>T" "r.(?)" "p.(Asp136=)" "" "0000890270" "00014149" "30" "381" "0" "381" "0" "c.381G>A" "r.(?)" "p.(Ala127=)" "" "0000890271" "00014149" "90" "52" "0" "52" "0" "c.52T>C" "r.(?)" "p.(Phe18Leu)" "" "0000890272" "00014149" "30" "37" "0" "37" "0" "c.37G>A" "r.(?)" "p.(Ala13Thr)" "" "0000913742" "00014149" "70" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Gly162Arg)" "" "0000913743" "00014149" "10" "170" "-54" "170" "-54" "c.170-54T>C" "r.(=)" "p.(=)" "" "0000913744" "00014149" "30" "4" "-14" "4" "-14" "c.4-14del" "r.(=)" "p.(=)" "" "0000925535" "00014149" "50" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "" "0000925536" "00014149" "10" "274" "8" "274" "8" "c.274+8C>T" "r.(=)" "p.(=)" "" "0000925537" "00014149" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Thr52Ile)" "" "0000930008" "00014149" "30" "354" "-18" "354" "-18" "c.354-18G>A" "r.(=)" "p.(=)" "" "0000949838" "00014149" "30" "274" "8" "274" "9" "c.274+8_274+9insAT" "r.(=)" "p.(=)" "" "0000949839" "00014149" "50" "163" "0" "163" "0" "c.163G>T" "r.(?)" "p.(Ala55Ser)" "" "0000957761" "00014149" "70" "221" "0" "221" "0" "c.221C>T" "r.(?)" "p.(Pro74Leu)" "" "0000966691" "00014149" "30" "279" "0" "279" "0" "c.279G>A" "r.(?)" "p.(Ala93=)" "" "0000966692" "00014149" "10" "4" "-18" "4" "-18" "c.4-18G>A" "r.(=)" "p.(=)" "" "0000989670" "00014149" "70" "401" "0" "401" "0" "c.401A>C" "r.(?)" "p.(Glu134Ala)" "" "0000989739" "00014149" "50" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Met69Thr)" "" "0001014903" "00014149" "10" "432" "0" "432" "0" "c.432T>C" "r.(?)" "p.(=)" "" "0001026096" "00014149" "30" "342" "0" "342" "0" "c.342G>A" "r.(?)" "p.(Leu114=)" "" "0001026097" "00014149" "50" "278" "0" "278" "0" "c.278C>T" "r.(?)" "p.(Ala93Val)" "" "0001045084" "00014149" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Asp48Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000064208" "0000095211" "0000064218" "0000095248" "0000064227" "0000095284" "0000064332" "0000095656" "0000109098" "0000175167" "0000109098" "0000175201" "0000164611" "0000367860" "0000164749" "0000368331" "0000211284" "0000442755" "0000211285" "0000442756" "0000211286" "0000442757" "0000211287" "0000442758" "0000211288" "0000442759" "0000211289" "0000442760" "0000211289" "0000442761" "0000211290" "0000442762" "0000211291" "0000442763" "0000211292" "0000442764" "0000211293" "0000442765" "0000211294" "0000442766" "0000211295" "0000442767" "0000211296" "0000442768" "0000211297" "0000442769" "0000211298" "0000442770" "0000211299" "0000442771" "0000211300" "0000442772" "0000211301" "0000442773" "0000211302" "0000442774" "0000211303" "0000442775" "0000211304" "0000442776" "0000211305" "0000442777" "0000211306" "0000442778" "0000211307" "0000442779" "0000211308" "0000442780" "0000211309" "0000442781" "0000211310" "0000442782" "0000211310" "0000442783" "0000211311" "0000442784" "0000211312" "0000442785" "0000211313" "0000442786" "0000211314" "0000442787" "0000211315" "0000442788" "0000211316" "0000442789" "0000211317" "0000442790" "0000211318" "0000442791" "0000211319" "0000442792" "0000211320" "0000442793" "0000211321" "0000442794" "0000211322" "0000442795" "0000211323" "0000442796" "0000211324" "0000442797" "0000211325" "0000442798" "0000220167" "0000455082" "0000296424" "0000653113" "0000297829" "0000701782" "0000317877" "0000700483" "0000317878" "0000700484" "0000317879" "0000700485" "0000317880" "0000700486" "0000317881" "0000700487" "0000317882" "0000700488" "0000317883" "0000700489" "0000318729" "0000701335" "0000318730" "0000701336" "0000318731" "0000701337" "0000318732" "0000701338" "0000318733" "0000701339" "0000318734" "0000701340" "0000318735" "0000701341" "0000318736" "0000701342" "0000318737" "0000701343" "0000318738" "0000701344" "0000318739" "0000701345" "0000318740" "0000701346" "0000318741" "0000701347" "0000318742" "0000701348" "0000318743" "0000701349" "0000318744" "0000701350" "0000318745" "0000701351" "0000318746" "0000701352" "0000318747" "0000701353" "0000318748" "0000701354" "0000318749" "0000701355" "0000318750" "0000701356" "0000318751" "0000701357" "0000319033" "0000701639" "0000448354" "0000957761" "0000454769" "0000989670" "0000454838" "0000989739"